16-2089742-G-A |
c.12897C>T |
p.H4299= |
Synonymous |
46/46 |
- |
1 |
16-2089749-T-C |
c.12890A>G |
p.K4297R |
Missense |
46/46 |
- |
1 |
16-2089751-G-C |
c.12888C>G |
p.N4296K |
Missense |
46/46 |
- |
2 |
16-2089756-T-A |
c.12883A>T |
p.K4295* |
Nonsense |
46/46 |
- |
1 |
16-2089762-G-A |
c.12877C>T |
p.R4293W |
Missense |
46/46 |
- |
2 |
16-2089762-G-T |
c.12877C>A |
p.R4293= |
Synonymous |
46/46 |
- |
1 |
16-2089764-A-G |
c.12875T>C |
p.L4292P |
Missense |
46/46 |
- |
1 |
16-2089768-G-GT |
c.12870dup |
p.P4291Tfs*95 |
Frameshift |
46/46 |
- |
2 |
16-2089775-G-C |
c.12864C>G |
p.S4288R |
Missense |
46/46 |
- |
1 |
16-2089777-T-C |
c.12862A>G |
p.S4288G |
Missense |
46/46 |
- |
2 |
16-2089777-T-G |
c.12862A>C |
p.S4288R |
Missense |
46/46 |
- |
1 |
16-2089778-G-A |
c.12861C>T |
p.P4287= |
Synonymous |
46/46 |
- |
1 |
16-2089778-G-T |
c.12861C>A |
p.P4287= |
Synonymous |
46/46 |
- |
1 |
16-2089781-G-GC |
c.12857dup |
p.S4288Qfs*98 |
Frameshift |
46/46 |
- |
1 |
16-2089785-G-C |
c.12854C>G |
p.T4285S |
Missense |
46/46 |
- |
2 |
16-2089785-G-GC |
c.12853_12854insG |
p.T4285Sfs*101 |
Frameshift |
46/46 |
- |
1 |
16-2089786-T-C |
c.12853A>G |
p.T4285A |
Missense |
46/46 |
- |
2 |
16-2089789-C-A |
c.12850G>T |
p.A4284S |
Missense |
46/46 |
- |
1 |
16-2089789-C-T |
c.12850G>A |
p.A4284T |
Missense |
46/46 |
- |
2 |
16-2089795-C-G |
c.12844G>C |
p.D4282H |
Missense |
46/46 |
- |
2 |
16-2089796-C-A |
c.12843G>T |
p.V4281= |
Synonymous |
46/46 |
- |
1 |
16-2089796-C-G |
c.12843G>C |
p.V4281= |
Synonymous |
46/46 |
- |
1 |
16-2089796-C-T |
c.12843G>A |
p.V4281= |
Synonymous |
46/46 |
- |
2 |
16-2089801-C-A |
c.12838G>T |
p.G4280C |
Missense |
46/46 |
- |
1 |
16-2089803-C-G |
c.12836G>C |
p.R4279P |
Missense |
46/46 |
- |
1 |
16-2089803-C-T |
c.12836G>A |
p.R4279Q |
Missense |
46/46 |
- |
2 |
16-2089804-G-T |
c.12835C>A |
p.R4279= |
Synonymous |
46/46 |
- |
1 |
16-2089806-C-T |
c.12833G>A |
p.S4278N |
Missense |
46/46 |
- |
2 |
16-2089810-C-T |
c.12829G>A |
p.A4277T |
Missense |
46/46 |
- |
1 |
16-2089812-C-T |
c.12827G>A |
p.R4276Q |
Missense |
46/46 |
- |
2 |
16-2089813-G-A |
c.12826C>T |
p.R4276W |
Missense |
46/46 |
- |
13 |
16-2089815-G-A |
c.12824C>T |
p.A4275V |
Missense |
46/46 |
- |
2 |
16-2089807-TGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCA-T |
c.12797_12831del |
p.L4266Qfs*108 |
Frameshift |
46/46 |
- |
1 |
16-2089816-C-T |
c.12823G>A |
p.A4275T |
Missense |
46/46 |
- |
1 |
16-2089820-G-A |
c.12819C>T |
p.R4273= |
Synonymous |
46/46 |
- |
1 |
16-2089821-C-G |
c.12818G>C |
p.R4273P |
Missense |
46/46 |
- |
1 |
16-2089821-C-T |
c.12818G>A |
p.R4273H |
Missense |
46/46 |
- |
1 |
16-2089822-G-A |
c.12817C>T |
p.R4273C |
Missense |
46/46 |
- |
3 |
16-2089822-G-C |
c.12817C>G |
p.R4273G |
Missense |
46/46 |
- |
1 |
16-2089822-G-T |
c.12817C>A |
p.R4273S |
Missense |
46/46 |
- |
1 |
16-2089823-G-A |
c.12816C>T |
p.S4272= |
Synonymous |
46/46 |
- |
1 |
16-2089824-CT-TA |
c.12814_12815delinsTA |
p.S4272Y |
Missense |
46/46 |
- |
1 |
16-2089828-G-A |
c.12811C>T |
p.P4271S |
Missense |
46/46 |
- |
1 |
16-2089833-G-A |
c.12806C>T |
p.A4269V |
Missense |
46/46 |
- |
1 |
16-2089834-C-T |
c.12805G>A |
p.A4269T |
Missense |
46/46 |
- |
1 |
16-2089836-G-A |
c.12803C>T |
p.P4268L |
Missense |
46/46 |
- |
3 |
16-2089837-G-A |
c.12802C>T |
p.P4268S |
Missense |
46/46 |
- |
1 |
16-2089839-C-T |
c.12800G>A |
p.R4267Q |
Missense |
46/46 |
- |
3 |
16-2089840-G-A |
c.12799C>T |
p.R4267W |
Missense |
46/46 |
- |
2 |
16-2089848-G-A |
c.12791C>T |
p.P4264L |
Missense |
46/46 |
- |
1 |
16-2089848-G-T |
c.12791C>A |
p.P4264Q |
Missense |
46/46 |
- |
1 |
16-2089851-G-A |
c.12788C>T |
p.S4263F |
Missense |
46/46 |
- |
1 |
16-2089854-G-A |
c.12785C>T |
p.P4262L |
Missense |
46/46 |
- |
1 |
16-2089857-C-T |
c.12782G>A |
p.G4261D |
Missense |
46/46 |
- |
1 |
16-2089858-C-T |
c.12781G>A |
p.G4261S |
Missense |
46/46 |
- |
1 |
16-2089859-A-G |
c.12780T>C |
p.R4260= |
Synonymous |
46/46 |
- |
1 |
16-2089860-C-T |
c.12779G>A |
p.R4260H |
Missense |
46/46 |
- |
2 |
16-2089861-G-A |
c.12778C>T |
p.R4260C |
Missense |
46/46 |
- |
2 |
16-2089861-G-T |
c.12778C>A |
p.R4260S |
Missense |
46/46 |
- |
1 |
16-2089866-G-GA |
c.12772dup |
p.S4258Ffs*128 |
Frameshift |
46/46 |
- |
1 |
16-2089869-C-G |
c.12770G>C |
p.G4257A |
Missense |
46/46 |
- |
1 |
16-2089870-C-A |
c.12769G>T |
p.G4257* |
Nonsense |
46/46 |
- |
1 |
16-2089870-C-T |
c.12769G>A |
p.G4257R |
Missense |
46/46 |
- |
2 |
16-2089871-G-A |
c.12768C>T |
p.A4256= |
Synonymous |
46/46 |
- |
1 |
16-2089871-G-T |
c.12768C>A |
p.A4256= |
Synonymous |
46/46 |
- |
1 |
16-2089872-G-A |
c.12767C>T |
p.A4256V |
Missense |
46/46 |
- |
1 |
16-2089873-C-A |
c.12766G>T |
p.A4256S |
Missense |
46/46 |
- |
2 |
16-2089873-C-T |
c.12766G>A |
p.A4256T |
Missense |
46/46 |
- |
1 |
16-2089874-G-A |
c.12765C>T |
p.P4255= |
Synonymous |
46/46 |
- |
8 |
16-2089874-G-C |
c.12765C>G |
p.P4255= |
Synonymous |
46/46 |
- |
2 |
16-2089874-G-T |
c.12765C>A |
p.P4255= |
Synonymous |
46/46 |
- |
2 |
16-2089875-G-A |
c.12764C>T |
p.P4255L |
Missense |
46/46 |
- |
1 |
16-2089878-G-A |
c.12761C>T |
p.A4254V |
Missense |
46/46 |
- |
2 |
16-2089878-G-C |
c.12761C>G |
p.A4254G |
Missense |
46/46 |
- |
1 |
16-2089881-C-T |
c.12758G>A |
p.R4253Q |
Missense |
46/46 |
- |
1 |
16-2089882-G-A |
c.12757C>T |
p.R4253W |
Missense |
46/46 |
- |
3 |
16-2089891-T-A |
c.12748A>T |
p.R4250W |
Missense |
46/46 |
- |
1 |
16-2089892-G-A |
c.12747C>T |
p.R4249= |
Synonymous |
46/46 |
- |
3 |
16-2089892-G-C |
c.12747C>G |
p.R4249= |
Synonymous |
46/46 |
- |
1 |
16-2089892-G-T |
c.12747C>A |
p.R4249= |
Synonymous |
46/46 |
- |
1 |
16-2089893-C-T |
c.12746G>A |
p.R4249H |
Missense |
46/46 |
- |
1 |
16-2089894-G-A |
c.12745C>T |
p.R4249C |
Missense |
46/46 |
- |
1 |
16-2089894-G-T |
c.12745C>A |
p.R4249S |
Missense |
46/46 |
- |
1 |
16-2089900-G-A |
c.12739C>T |
p.Q4247* |
Nonsense |
46/46 |
- |
2 |
16-2089903-G-A |
c.12736C>T |
p.L4246= |
Synonymous |
46/46 |
- |
2 |
16-2089905-C-G |
c.12734G>C |
p.S4245T |
Missense |
46/46 |
- |
1 |
16-2089909-G-A |
c.12730C>T |
p.H4244Y |
Missense |
46/46 |
- |
1 |
16-2089911-A-C |
c.12728T>G |
p.L4243R |
Missense |
46/46 |
- |
1 |
16-2089915-G-A |
c.12724C>T |
p.Q4242* |
Nonsense |
46/46 |
- |
2 |
16-2089917-TG-GC |
c.12721_12722delinsGC |
p.Q4241A |
Missense |
46/46 |
- |
1 |
16-2089918-G-A |
c.12721C>T |
p.Q4241* |
Nonsense |
46/46 |
- |
1 |
16-2089920-CT-C |
c.12719del |
p.E4240Gfs*118 |
Frameshift |
46/46 |
- |
1 |
16-2089920-T-C |
c.12719A>G |
p.E4240G |
Missense |
46/46 |
- |
1 |
16-2089927-G-A |
c.12712C>T |
p.Q4238* |
Nonsense |
46/46 |
- |
4 |
16-2089928-G-T |
c.12711C>A |
p.Y4237* |
Nonsense |
46/46 |
- |
1 |
16-2089929-T-A |
c.12710A>T |
p.Y4237F |
Missense |
46/46 |
- |
1 |
16-2089932-A-T |
c.12707T>A |
p.V4236D |
Missense |
46/46 |
- |
1 |
16-2089934-G-A |
c.12705C>T |
p.D4235= |
Synonymous |
46/46 |
- |
1 |
16-2089939-C-T |
c.12700G>A |
p.E4234K |
Missense |
46/46 |
- |
2 |
16-2089948-G-A |
c.12691C>T |
p.Q4231* |
Nonsense |
46/46 |
- |
3 |
16-2089948-G-C |
c.12691C>G |
p.Q4231E |
Missense |
46/46 |
- |
1 |
16-2089948-GGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGC-G |
c.12633_12690del |
p.E4211Dfs*128 |
Frameshift |
46/46 |
- |
1 |
16-2089949-G-A |
c.12690C>T |
p.N4230= |
Synonymous |
46/46 |
- |
2 |
16-2089945-CCTGGTTGAGTCGGTCAAA-C |
c.12676_12693del |
p.F4226_Q4231del |
InFrameDeletion |
46/46 |
- |
1 |
16-2089949-G-GT |
c.12689dup |
p.N4230Kfs*156 |
Frameshift |
46/46 |
- |
1 |
16-2089951-T-TA |
c.12687_12688insT |
p.N4230* |
Nonsense |
46/46 |
- |
2 |
16-2089952-G-A |
c.12687C>T |
p.L4229= |
Synonymous |
46/46 |
- |
1 |
16-2089952-G-GA |
c.12686dup |
p.N4230Qfs*156 |
Frameshift |
46/46 |
- |
1 |
16-2089953-AG-GC |
c.12685_12686delinsGC |
p.L4229A |
Missense |
46/46 |
- |
1 |
16-2089956-C-G |
c.12683G>C |
p.R4228P |
Missense |
46/46 |
- |
2 |
16-2089955-T-A |
c.12684A>T |
p.R4228= |
Synonymous |
46/46 |
- |
1 |
16-2089955-T-C |
c.12684A>G |
p.R4228= |
Synonymous |
46/46 |
- |
2 |
16-2089955-T-G |
c.12684A>C |
p.R4228= |
Synonymous |
46/46 |
- |
1 |
16-2089957-G-A |
c.12682C>T |
p.R4228* |
Nonsense |
46/46 |
- |
11 |
16-2089957-G-T |
c.12682C>A |
p.R4228= |
Synonymous |
46/46 |
- |
1 |
16-2089962-A-G |
c.12677T>C |
p.F4226S |
Missense |
46/46 |
- |
2 |
16-2089960-CA-C |
c.12678del |
p.F4226Lfs*132 |
Frameshift |
46/46 |
- |
1 |
16-2089965-T-C |
c.12674A>G |
p.Q4225R |
Missense |
46/46 |
- |
1 |
16-2089965-T-G |
c.12674A>C |
p.Q4225P |
Missense |
46/46 |
- |
4 |
16-2089966-G-A |
c.12673C>T |
p.Q4225* |
Nonsense |
46/46 |
- |
2 |
16-2089964-CTGGG-C |
c.12671_12674del |
p.T4224Sfs*133 |
Frameshift |
46/46 |
- |
1 |
16-2089967-G-A |
c.12672C>T |
p.T4224= |
Synonymous |
46/46 |
- |
1 |
16-2089967-G-C |
c.12672C>G |
p.T4224= |
Synonymous |
46/46 |
- |
1 |
16-2089967-GG-CC |
c.12671_12672inv |
p.T4224R |
Missense |
46/46 |
- |
1 |
16-2089967-G-T |
c.12672C>A |
p.T4224= |
Synonymous |
46/46 |
- |
1 |
16-2089968-G-C |
c.12671C>G |
p.T4224S |
Missense |
46/46 |
- |
1 |
16-2089968-G-T |
c.12671C>A |
p.T4224N |
Missense |
46/46 |
- |
3 |
16-2089971-A-C |
c.12668T>G |
p.L4223R |
Missense |
46/46 |
- |
1 |
16-2089973-C-A |
c.12666G>T |
p.L4222= |
Synonymous |
46/46 |
- |
1 |
16-2089973-C-G |
c.12666G>C |
p.L4222= |
Synonymous |
46/46 |
- |
1 |
16-2089973-C-T |
c.12666G>A |
p.L4222= |
Synonymous |
46/46 |
- |
1 |
16-2089975-G-A |
c.12664C>T |
p.L4222= |
Synonymous |
46/46 |
- |
1 |
16-2089976-G-T |
c.12663C>A |
p.A4221= |
Synonymous |
46/46 |
- |
1 |
16-2089978-C-T |
c.12661G>A |
p.A4221T |
Missense |
46/46 |
- |
1 |
16-2089981-C-A |
c.12658G>T |
p.E4220* |
Nonsense |
46/46 |
- |
1 |
16-2089982-G-A |
c.12657C>T |
p.F4219= |
Synonymous |
46/46 |
- |
1 |
16-2089987-C-A |
c.12652G>T |
p.V4218L |
Missense |
46/46 |
- |
1 |
16-2089987-C-G |
c.12652G>C |
p.V4218L |
Missense |
46/46 |
- |
1 |
16-2089988-G-A |
c.12651C>T |
p.A4217= |
Synonymous |
46/46 |
- |
2 |
16-2089988-G-C |
c.12651C>G |
p.A4217= |
Synonymous |
46/46 |
- |
1 |
16-2089988-G-T |
c.12651C>A |
p.A4217= |
Synonymous |
46/46 |
- |
1 |
16-2089991-T-G |
c.12648A>C |
p.Q4216H |
Missense |
46/46 |
- |
2 |
16-2089993-G-A |
c.12646C>T |
p.Q4216* |
Nonsense |
46/46 |
- |
1 |
16-2089998-C-T |
c.12641G>A |
p.R4214H |
Missense |
46/46 |
- |
2 |
16-2089999-G-A |
c.12640C>T |
p.R4214C |
Missense |
46/46 |
- |
4 |
16-2090000-GG-TT |
c.12638_12639delinsAA |
p.S4213* |
Nonsense |
46/46 |
- |
1 |
16-2090005-G-T |
c.12634C>A |
p.P4212T |
Missense |
46/46 |
- |
1 |
16-2090003-GGGCTCAGGCTCACACCTTGTCCCCAGCC-G |
c.12608_12635del |
p.R4203Pfs*146 |
Frameshift |
46/46 |
- |
2 |
16-2090007-T-G |
c.12632A>C |
p.E4211A |
Missense |
46/46 |
- |
1 |
16-2090008-C-A |
c.12631G>T |
p.E4211* |
Nonsense |
46/46 |
- |
1 |
16-2090009-A-C |
c.12630T>G |
p.P4210= |
Synonymous |
46/46 |
- |
12 |
16-2090009-A-G |
c.12630T>C |
p.P4210= |
Synonymous |
46/46 |
- |
15 |
16-2090009-A-T |
c.12630T>A |
p.P4210= |
Synonymous |
46/46 |
- |
12 |
16-2090014-C-G |
c.12625G>C |
p.E4209Q |
Missense |
46/46 |
- |
3 |
16-2090007-TCAGGCTCACACCTTGTCCCCAGCCGGCC-T |
c.12604_12631del |
p.G4202Sfs*147 |
Frameshift |
46/46 |
- |
2 |
16-2090018-C-G |
c.12621G>C |
p.R4207S |
Missense |
46/46 |
- |
1 |
16-2090023-T-C |
c.12616A>G |
p.T4206A |
Missense |
46/46 |
- |
1 |
16-2090028-A-T |
c.12611T>A |
p.L4204Q |
Missense |
46/46 |
- |
1 |
16-2090031-C-T |
c.12608G>A |
p.R4203Q |
Missense |
46/46 |
- |
1 |
16-2090032-G-A |
c.12607C>T |
p.R4203W |
Missense |
46/46 |
- |
2 |
16-2090033-G-A |
c.12606C>T |
p.G4202= |
Synonymous |
46/46 |
- |
1 |
16-2090034-C-G |
c.12605G>C |
p.G4202A |
Missense |
46/46 |
- |
1 |
16-2090040-C-CGTGA |
c.12598_12599insTCAC |
p.S4200Ifs*11 |
Frameshift |
46/46 |
- |
1 |
16-2090041-T-C |
c.12598A>G |
p.S4200G |
Missense |
46/46 |
- |
1 |
16-2090056-C-T |
c.12583G>A |
p.D4195N |
Missense |
46/46 |
- |
1 |
16-2090062-G-A |
c.12577C>T |
p.Q4193* |
Nonsense |
46/46 |
- |
1 |
16-2090064-C-T |
c.12575G>A |
p.S4192N |
Missense |
46/46 |
- |
1 |
16-2090068-A-T |
c.12571T>A |
p.S4191T |
Missense |
46/46 |
- |
1 |
16-2090069-G-A |
c.12570C>T |
p.S4190= |
Synonymous |
46/46 |
- |
1 |
16-2090070-G-A |
c.12569C>T |
p.S4190F |
Missense |
46/46 |
- |
5 |
16-2090070-G-T |
c.12569C>A |
p.S4190Y |
Missense |
46/46 |
- |
1 |
16-2090071-A-T |
c.12568T>A |
p.S4190T |
Missense |
46/46 |
- |
1 |
16-2090074-T-A |
c.12565A>T |
p.T4189S |
Missense |
46/46 |
- |
1 |
16-2090076-G-A |
c.12563C>T |
p.S4188F |
Missense |
46/46 |
- |
1 |
16-2090081-G-A |
c.12558C>T |
p.H4186= |
Synonymous |
46/46 |
- |
1 |
16-2090085-G-A |
c.12554C>T |
p.S4185L |
Missense |
46/46 |
- |
1 |
16-2090085-G-C |
c.12554C>G |
p.S4185W |
Missense |
46/46 |
- |
1 |
16-2090088-G-A |
c.12551C>T |
p.A4184V |
Missense |
46/46 |
- |
1 |
16-2090092-C-T |
c.12547G>A |
p.D4183N |
Missense |
46/46 |
- |
1 |
16-2090100-G-A |
c.12539C>T |
p.A4180V |
Missense |
46/46 |
- |
2 |
16-2090102-G-A |
c.12537C>T |
p.S4179= |
Synonymous |
46/46 |
- |
2 |
16-2090106-G-A |
c.12533C>T |
p.P4178L |
Missense |
46/46 |
- |
1 |
16-2090107-G-A |
c.12532C>T |
p.P4178S |
Missense |
46/46 |
- |
1 |
16-2090109-G-A |
c.12530C>T |
p.P4177L |
Missense |
46/46 |
- |
1 |
16-2090110-G-GT |
c.12528_12529insA |
p.P4177Tfs*33 |
Frameshift |
46/46 |
- |
1 |
16-2090112-G-A |
c.12527C>T |
p.P4176L |
Missense |
46/46 |
- |
1 |
16-2090108-TG-T |
c.12530del |
p.P4177Hfs*21 |
Frameshift |
46/46 |
- |
1 |
16-2090116-C-T |
c.12523G>A |
p.V4175M |
Missense |
46/46 |
- |
1 |
16-2090120-C-A |
c.12519G>T |
p.P4173= |
Synonymous |
46/46 |
- |
2 |
16-2090120-C-G |
c.12519G>C |
p.P4173= |
Synonymous |
46/46 |
- |
2 |
16-2090120-C-T |
c.12519G>A |
p.P4173= |
Synonymous |
46/46 |
- |
2 |
16-2090121-G-A |
c.12518C>T |
p.P4173L |
Missense |
46/46 |
- |
2 |
16-2090120-CG-C |
c.12518del |
p.P4173Rfs*25 |
Frameshift |
46/46 |
- |
1 |
16-2090125-A-G |
c.12514T>C |
p.S4172P |
Missense |
46/46 |
- |
1 |
16-2090132-G-A |
c.12507C>T |
p.S4169= |
Synonymous |
46/46 |
- |
3 |
16-2090133-G-C |
c.12506C>G |
p.S4169C |
Missense |
46/46 |
- |
2 |
16-2090138-CCCTGGAGG-C |
c.12494_12501del |
p.S4165Wfs*42 |
Frameshift |
46/46 |
- |
1 |
16-2090135-G-GC |
c.12503dup |
p.S4169Lfs*41 |
Frameshift |
46/46 |
- |
2 |
16-2090143-A-C |
c.12496T>G |
p.S4166A |
Missense |
46/46 |
- |
1 |
16-2090145-G-A |
c.12494C>T |
p.S4165F |
Missense |
46/46 |
- |
3 |
16-2090149-CG-C |
c.12490del |
p.R4164Afs*34 |
Frameshift |
46/46 |
- |
1 |
16-2090149-G-A |
c.12490C>T |
p.R4164C |
Missense |
46/46 |
- |
1 |
16-2090150-A-T |
c.12489T>A |
p.S4163= |
Synonymous |
46/46 |
- |
1 |
16-2090151-G-C |
c.12488C>G |
p.S4163C |
Missense |
46/46 |
- |
1 |
16-2090152-A-G |
c.12487T>C |
p.S4163P |
Missense |
46/46 |
- |
1 |
16-2090154-G-A |
c.12485C>T |
p.P4162L |
Missense |
46/46 |
- |
1 |
16-2090155-G-A |
c.12484C>T |
p.P4162S |
Missense |
46/46 |
- |
1 |
16-2090163-T-C |
c.12476A>G |
p.E4159G |
Missense |
46/46 |
- |
1 |
16-2090166-A-G |
c.12473T>C |
p.M4158T |
Missense |
46/46 |
- |
3 |
16-2090167-TC-T |
c.12471del |
p.M4158Wfs*40 |
Frameshift |
46/46 |
- |
1 |
16-2090175-AA-GC |
c.12463_12464delinsGC |
p.F4155A |
Missense |
46/46 |
- |
1 |
16-2090176-A-C |
c.12463T>G |
p.F4155V |
Missense |
46/46 |
- |
3 |
16-2090178-CG-GC |
c.12460_12461delinsGC |
p.R4154A |
Missense |
46/46 |
- |
1 |
16-2090179-G-A |
c.12460C>T |
p.R4154C |
Missense |
46/46 |
- |
9 |
16-2090181-A-G |
c.12458T>C |
p.V4153A |
Missense |
46/46 |
- |
1 |
16-2090184-T-C |
c.12455A>G |
p.K4152R |
Missense |
46/46 |
- |
6 |
16-2090184-T-G |
c.12455A>C |
p.K4152T |
Missense |
46/46 |
- |
5 |
16-2090184-TT-GC |
c.12454_12455delinsGC |
p.K4152A |
Missense |
46/46 |
- |
1 |
16-2090182-CT-C |
c.12456del |
p.V4153Sfs*45 |
Frameshift |
46/46 |
- |
1 |
16-2090185-T-C |
c.12454A>G |
p.K4152E |
Missense |
46/46 |
- |
1 |
16-2090185-T-G |
c.12454A>C |
p.K4152Q |
Missense |
46/46 |
- |
1 |
16-2090186-G-C |
c.12453C>G |
p.H4151Q |
Missense |
46/46 |
- |
3 |
16-2090186-G-T |
c.12453C>A |
p.H4151Q |
Missense |
46/46 |
- |
2 |
16-2090187-TG-GC |
c.12451_12452delinsGC |
p.H4151A |
Missense |
46/46 |
- |
1 |
16-2090188-G-A |
c.12451C>T |
p.H4151Y |
Missense |
46/46 |
- |
1 |
16-2090189-G-C |
c.12450C>G |
p.R4150= |
Synonymous |
46/46 |
- |
1 |
16-2090190-CG-GC |
c.12448_12449delinsGC |
p.R4150A |
Missense |
46/46 |
- |
1 |
16-2090191-G-A |
c.12448C>T |
p.R4150C |
Missense |
46/46 |
- |
8 |
16-2090192-G-A |
c.12447C>T |
p.F4149= |
Synonymous |
46/46 |
- |
3 |
16-2090251-C-T |
c.12444+34G>A |
- |
IntronicSNV |
- |
45/45 |
1 |
16-2090284-C-T |
c.12444+1G>A |
- |
IntronicSNV |
- |
45/45 |
2 |
16-2090285-C-A |
c.12444G>T |
p.E4148D |
Missense |
45/46 |
- |
1 |
16-2090285-C-G |
c.12444G>C |
p.E4148D |
Missense |
45/46 |
- |
1 |
16-2090285-C-T |
c.12444G>A |
p.E4148= |
Synonymous |
45/46 |
- |
2 |
16-2090287-C-A |
c.12442G>T |
p.E4148* |
Nonsense |
45/46 |
- |
1 |
16-2090287-C-T |
c.12442G>A |
p.E4148K |
Missense |
45/46 |
- |
1 |
16-2090286-TC-T |
c.12442del |
p.E4148Sfs*50 |
Frameshift |
45/46 |
- |
1 |
16-2090288-CCTT-C |
c.12439_12441del |
p.K4147del |
InFrameDeletion |
45/46 |
- |
2 |
16-2090289-T-C |
c.12440A>G |
p.K4147R |
Missense |
45/46 |
- |
1 |
16-2090288-C-CT |
c.12440dup |
p.E4148Gfs*9 |
Frameshift |
45/46 |
- |
1 |
16-2090293-C-G |
c.12436G>C |
p.V4146L |
Missense |
45/46 |
- |
5 |
16-2090293-C-T |
c.12436G>A |
p.V4146I |
Missense |
45/46 |
- |
18 |
16-2090298-C-G |
c.12431G>C |
p.S4144T |
Missense |
45/46 |
- |
1 |
16-2090298-CT-TC |
c.12430_12431delinsGA |
p.S4144D |
Missense |
45/46 |
- |
2 |
16-2090300-G-A |
c.12429C>T |
p.L4143= |
Synonymous |
45/46 |
- |
2 |
16-2090300-G-C |
c.12429C>G |
p.L4143= |
Synonymous |
45/46 |
- |
3 |
16-2090300-G-T |
c.12429C>A |
p.L4143= |
Synonymous |
45/46 |
- |
2 |
16-2090301-A-C |
c.12428T>G |
p.L4143R |
Missense |
45/46 |
- |
1 |
16-2090302-G-A |
c.12427C>T |
p.L4143F |
Missense |
45/46 |
- |
1 |
16-2090302-G-C |
c.12427C>G |
p.L4143V |
Missense |
45/46 |
- |
1 |
16-2090304-C-A |
c.12425G>T |
p.G4142V |
Missense |
45/46 |
- |
1 |
16-2090304-C-T |
c.12425G>A |
p.G4142D |
Missense |
45/46 |
- |
1 |
16-2090305-C-A |
c.12424G>T |
p.G4142C |
Missense |
45/46 |
- |
1 |
16-2090309-C-T |
c.12420G>A |
p.W4140* |
Nonsense |
45/46 |
- |
3 |
16-2090310-C-T |
c.12419G>A |
p.W4140* |
Nonsense |
45/46 |
- |
2 |
16-2090313-A-G |
c.12416T>C |
p.L4139P |
Missense |
45/46 |
- |
1 |
16-2090314-G-A |
c.12415C>T |
p.L4139F |
Missense |
45/46 |
- |
1 |
16-2090316-C-T |
c.12413G>A |
p.R4138H |
Missense |
45/46 |
- |
2 |
16-2090317-G-A |
c.12412C>T |
p.R4138C |
Missense |
45/46 |
- |
1 |
16-2090318-C-A |
c.12411G>T |
p.L4137= |
Synonymous |
45/46 |
- |
1 |
16-2090318-C-G |
c.12411G>C |
p.L4137= |
Synonymous |
45/46 |
- |
1 |
16-2090318-C-T |
c.12411G>A |
p.L4137= |
Synonymous |
45/46 |
- |
1 |
16-2090319-A-G |
c.12410T>C |
p.L4137P |
Missense |
45/46 |
- |
2 |
16-2090320-G-A |
c.12409C>T |
p.L4137= |
Synonymous |
45/46 |
- |
14 |
16-2090320-G-C |
c.12409C>G |
p.L4137V |
Missense |
45/46 |
- |
1 |
16-2090322-C-G |
c.12407G>C |
p.R4136T |
Missense |
45/46 |
- |
1 |
16-2090323-T-C |
c.12406A>G |
p.R4136G |
Missense |
45/46 |
- |
4 |
16-2090325-C-A |
c.12404G>T |
p.R4135L |
Missense |
45/46 |
- |
1 |
16-2090325-C-T |
c.12404G>A |
p.R4135H |
Missense |
45/46 |
- |
1 |
16-2090326-CGCAGGAACA-C |
c.12395_12403del |
p.L4132_R4135delinsC |
MultiAAMissense |
45/46 |
- |
1 |
16-2090330-G-A |
c.12399C>T |
p.F4133= |
Synonymous |
45/46 |
- |
5 |
16-2090330-G-T |
c.12399C>A |
p.F4133L |
Missense |
45/46 |
- |
2 |
16-2090333-CAA-GTC |
c.12394_12396delinsGAC |
p.L4132D |
Missense |
45/46 |
- |
1 |
16-2090334-AA-GC |
c.12394_12395delinsGC |
p.L4132A |
Missense |
45/46 |
- |
2 |
16-2090334-A-T |
c.12395T>A |
p.L4132* |
Nonsense |
45/46 |
- |
1 |
16-2090335-ACTC-A |
c.12391_12393del |
p.E4131del |
InFrameDeletion |
45/46 |
- |
1 |
16-2090337-TC-AG |
c.12391_12392delinsCT |
p.E4131L |
Missense |
45/46 |
- |
1 |
16-2090338-C-A |
c.12391G>T |
p.E4131* |
Nonsense |
45/46 |
- |
4 |
16-2090337-TC-T |
c.12391del |
p.E4131Sfs*67 |
Frameshift |
45/46 |
- |
1 |
16-2090337-TCCA-T |
c.12389_12391del |
p.V4130del |
InFrameDeletion |
45/46 |
- |
1 |
16-2090342-C-G |
c.12387G>C |
p.M4129I |
Missense |
45/46 |
- |
1 |
16-2090342-C-T |
c.12387G>A |
p.M4129I |
Missense |
45/46 |
- |
1 |
16-2090343-A-T |
c.12386T>A |
p.M4129K |
Missense |
45/46 |
- |
1 |
16-2090344-T-C |
c.12385A>G |
p.M4129V |
Missense |
45/46 |
- |
1 |
16-2090349-T-A |
c.12380A>T |
p.Y4127F |
Missense |
45/46 |
- |
1 |
16-2090353-C-T |
c.12376G>A |
p.D4126N |
Missense |
45/46 |
- |
4 |
16-2090354-C-T |
c.12375G>A |
p.Q4125= |
Synonymous |
45/46 |
- |
1 |
16-2090356-G-A |
c.12373C>T |
p.Q4125* |
Nonsense |
45/46 |
- |
1 |
16-2090359-G-A |
c.12370C>T |
p.P4124S |
Missense |
45/46 |
- |
2 |
16-2090360-C-A |
c.12369G>T |
p.E4123D |
Missense |
45/46 |
- |
1 |
16-2090360-C-CT |
c.12368dup |
p.P4124Afs*33 |
Frameshift |
45/46 |
- |
1 |
16-2090363-C-T |
c.12366G>A |
p.W4122* |
Nonsense |
45/46 |
- |
2 |
16-2090364-C-T |
c.12365G>A |
p.W4122* |
Nonsense |
45/46 |
- |
1 |
16-2090367-G-A |
c.12362C>T |
p.A4121V |
Missense |
45/46 |
- |
1 |
16-2090367-G-T |
c.12362C>A |
p.A4121D |
Missense |
45/46 |
- |
1 |
16-2090368-C-T |
c.12361G>A |
p.A4121T |
Missense |
45/46 |
- |
1 |
16-2090370-G-A |
c.12359C>T |
p.P4120L |
Missense |
45/46 |
- |
2 |
16-2090373-C-T |
c.12356G>A |
p.R4119Q |
Missense |
45/46 |
- |
1 |
16-2090374-G-A |
c.12355C>T |
p.R4119W |
Missense |
45/46 |
- |
4 |
16-2090383-C-T |
c.12346G>A |
p.E4116K |
Missense |
45/46 |
- |
1 |
16-2090384-T-A |
c.12345A>T |
p.G4115= |
Synonymous |
45/46 |
- |
1 |
16-2090384-T-C |
c.12345A>G |
p.G4115= |
Synonymous |
45/46 |
- |
1 |
16-2090384-T-G |
c.12345A>C |
p.G4115= |
Synonymous |
45/46 |
- |
1 |
16-2090396-G-A |
c.12333C>T |
p.H4111= |
Synonymous |
45/46 |
- |
1 |
16-2090397-TG-CC |
c.12331_12332delinsGG |
p.H4111G |
Missense |
45/46 |
- |
1 |
16-2090403-C-T |
c.12326G>A |
p.R4109H |
Missense |
45/46 |
- |
1 |
16-2090404-G-A |
c.12325C>T |
p.R4109C |
Missense |
45/46 |
- |
6 |
16-2090405-C-T |
c.12324G>A |
p.W4108* |
Nonsense |
45/46 |
- |
1 |
16-2090409-C-A |
c.12320G>T |
p.R4107L |
Missense |
45/46 |
- |
1 |
16-2090409-C-T |
c.12320G>A |
p.R4107H |
Missense |
45/46 |
- |
1 |
16-2090410-G-C |
c.12319C>G |
p.R4107G |
Missense |
45/46 |
- |
1 |
16-2090412-A-G |
c.12317T>C |
p.L4106P |
Missense |
45/46 |
- |
2 |
16-2090413-G-A |
c.12316C>T |
p.L4106F |
Missense |
45/46 |
- |
1 |
16-2090413-G-C |
c.12316C>G |
p.L4106V |
Missense |
45/46 |
- |
1 |
16-2090416-T-C |
c.12313A>G |
p.I4105V |
Missense |
45/46 |
- |
4 |
16-2090416-T-G |
c.12313A>C |
p.I4105L |
Missense |
45/46 |
- |
5 |
16-2090421-G-T |
c.12308C>A |
p.A4103D |
Missense |
45/46 |
- |
1 |
16-2090424-C-T |
c.12305G>A |
p.G4102E |
Missense |
45/46 |
- |
2 |
16-2090421-G-GC |
c.12307dup |
p.A4103Gfs*54 |
Frameshift |
45/46 |
- |
1 |
16-2090428-AG-A |
c.12301del |
p.L4101Wfs*97 |
Frameshift |
45/46 |
- |
1 |
16-2090428-G-T |
c.12301C>A |
p.L4101M |
Missense |
45/46 |
- |
1 |
16-2090429-C-CCTA |
c.12299_12300insTAG |
p.R4100dup |
InFrameInsertion |
45/46 |
- |
1 |
16-2090430-CG-TA |
c.12298_12299delinsTA |
p.R4100* |
Nonsense |
45/46 |
- |
1 |
16-2090431-G-C |
c.12298C>G |
p.R4100G |
Missense |
45/46 |
- |
1 |
16-2090432-T-A |
c.12297A>T |
p.L4099= |
Synonymous |
45/46 |
- |
1 |
16-2090432-T-C |
c.12297A>G |
p.L4099= |
Synonymous |
45/46 |
- |
1 |
16-2090432-T-G |
c.12297A>C |
p.L4099= |
Synonymous |
45/46 |
- |
1 |
16-2090434-G-A |
c.12295C>T |
p.L4099= |
Synonymous |
45/46 |
- |
1 |
16-2090435-G-A |
c.12294C>T |
p.A4098= |
Synonymous |
45/46 |
- |
2 |
16-2090437-C-T |
c.12292G>A |
p.A4098T |
Missense |
45/46 |
- |
2 |
16-2090443-A-G |
c.12286T>C |
p.W4096R |
Missense |
45/46 |
- |
2 |
16-2090443-A-T |
c.12286T>A |
p.W4096R |
Missense |
45/46 |
- |
2 |
16-2090449-G-A |
c.12280C>T |
p.R4094W |
Missense |
45/46 |
- |
1 |
16-2090453-T-C |
c.12276A>G |
p.A4092= |
Synonymous |
45/46 |
- |
17 |
16-2090453-T-G |
c.12276A>C |
p.A4092= |
Synonymous |
45/46 |
- |
13 |
16-2090454-G-A |
c.12275C>T |
p.A4092V |
Missense |
45/46 |
- |
1 |
16-2090455-C-T |
c.12274G>A |
p.A4092T |
Missense |
45/46 |
- |
3 |
16-2090459-G-C |
c.12270C>G |
p.L4090= |
Synonymous |
45/46 |
- |
1 |
16-2090461-G-A |
c.12268C>T |
p.L4090F |
Missense |
45/46 |
- |
1 |
16-2090468-A-T |
c.12261T>A |
p.C4087* |
Nonsense |
45/46 |
- |
1 |
16-2090464-CCA-C |
c.12263_12264del |
p.V4088Gfs*68 |
Frameshift |
45/46 |
- |
1 |
16-2090473-G-A |
c.12256C>T |
p.L4086= |
Synonymous |
45/46 |
- |
1 |
16-2090474-C-A |
c.12255G>T |
p.L4085= |
Synonymous |
45/46 |
- |
1 |
16-2090474-C-G |
c.12255G>C |
p.L4085= |
Synonymous |
45/46 |
- |
1 |
16-2090474-C-T |
c.12255G>A |
p.L4085= |
Synonymous |
45/46 |
- |
1 |
16-2090476-G-A |
c.12253C>T |
p.L4085= |
Synonymous |
45/46 |
- |
1 |
16-2090476-G-T |
c.12253C>A |
p.L4085M |
Missense |
45/46 |
- |
1 |
16-2090479-G-A |
c.12250C>T |
p.P4084S |
Missense |
45/46 |
- |
2 |
16-2090484-CA-C |
c.12245del |
p.L4082Rfs*116 |
Frameshift |
45/46 |
- |
1 |
16-2090486-G-C |
c.12243C>G |
p.H4081Q |
Missense |
45/46 |
- |
1 |
16-2090488-G-T |
c.12241C>A |
p.H4081N |
Missense |
45/46 |
- |
1 |
16-2090492-G-A |
c.12237C>T |
p.S4079= |
Synonymous |
45/46 |
- |
1 |
16-2090496-TC-CT |
c.12232_12233delinsAG |
p.E4078R |
Missense |
45/46 |
- |
1 |
16-2090499-G-A |
c.12230C>T |
p.A4077V |
Missense |
45/46 |
- |
1 |
16-2090502-G-C |
c.12227C>G |
p.P4076R |
Missense |
45/46 |
- |
1 |
16-2090502-G-T |
c.12227C>A |
p.P4076H |
Missense |
45/46 |
- |
1 |
16-2090507-C-T |
c.12222G>A |
p.L4074= |
Synonymous |
45/46 |
- |
1 |
16-2090508-CAG-C |
c.12220_12221del |
p.L4074Vfs*82 |
Frameshift |
45/46 |
- |
1 |
16-2090512-GTA-G |
c.12216_12217del |
p.T4073Pfs*83 |
Frameshift |
45/46 |
- |
1 |
16-2090512-T-C |
c.12217A>G |
p.T4073A |
Missense |
45/46 |
- |
3 |
16-2090517-A-G |
c.12212T>C |
p.L4071P |
Missense |
45/46 |
- |
1 |
16-2090520-C-T |
c.12209G>A |
p.G4070E |
Missense |
45/46 |
- |
1 |
16-2090523-G-A |
c.12206C>T |
p.T4069I |
Missense |
45/46 |
- |
1 |
16-2090525-C-A |
c.12204G>T |
p.G4068= |
Synonymous |
45/46 |
- |
1 |
16-2090525-C-G |
c.12204G>C |
p.G4068= |
Synonymous |
45/46 |
- |
1 |
16-2090525-C-T |
c.12204G>A |
p.G4068= |
Synonymous |
45/46 |
- |
1 |
16-2090528-A-G |
c.12201T>C |
p.P4067= |
Synonymous |
45/46 |
- |
1 |
16-2090530-G-A |
c.12199C>T |
p.P4067S |
Missense |
45/46 |
- |
1 |
16-2090531-G-A |
c.12198C>T |
p.C4066= |
Synonymous |
45/46 |
- |
1 |
16-2090534-C-T |
c.12195G>A |
p.L4065= |
Synonymous |
45/46 |
- |
1 |
16-2090547-G-A |
c.12182C>T |
p.A4061V |
Missense |
45/46 |
- |
1 |
16-2090547-G-C |
c.12182C>G |
p.A4061G |
Missense |
45/46 |
- |
1 |
16-2090549-C-G |
c.12180G>C |
p.Q4060H |
Missense |
45/46 |
- |
1 |
16-2090550-T-TG |
c.12178dup |
p.Q4060Pfs*97 |
Frameshift |
45/46 |
- |
1 |
16-2090553-G-A |
c.12176C>T |
p.A4059V |
Missense |
45/46 |
- |
22 |
16-2090553-G-C |
c.12176C>G |
p.A4059G |
Missense |
45/46 |
- |
7 |
16-2090556-A-G |
c.12173T>C |
p.V4058A |
Missense |
45/46 |
- |
2 |
16-2090557-AC-A |
c.12172del |
p.V4058Wfs*140 |
Frameshift |
45/46 |
- |
1 |
16-2090556-ACG-A |
c.12171_12172del |
p.V4058Gfs*98 |
Frameshift |
45/46 |
- |
1 |
16-2090559-C-T |
c.12170G>A |
p.S4057N |
Missense |
45/46 |
- |
1 |
16-2090568-G-A |
c.12161C>T |
p.S4054F |
Missense |
45/46 |
- |
3 |
16-2090568-G-T |
c.12161C>A |
p.S4054Y |
Missense |
45/46 |
- |
1 |
16-2090572-CCA-C |
c.12155_12156del |
p.V4052Gfs*104 |
Frameshift |
45/46 |
- |
1 |
16-2090577-C-G |
c.12152G>C |
p.C4051S |
Missense |
45/46 |
- |
1 |
16-2090578-AG-A |
c.12150del |
p.C4051Vfs*147 |
Frameshift |
45/46 |
- |
1 |
16-2090580-G-A |
c.12149C>T |
p.S4050F |
Missense |
45/46 |
- |
1 |
16-2090580-G-C |
c.12149C>G |
p.S4050C |
Missense |
45/46 |
- |
1 |
16-2090583-G-A |
c.12146C>T |
p.S4049F |
Missense |
45/46 |
- |
3 |
16-2090583-G-C |
c.12146C>G |
p.S4049C |
Missense |
45/46 |
- |
2 |
16-2090585-C-CGGA |
c.12143_12144insTCC |
p.V4048_S4049insP |
InFrameInsertion |
45/46 |
- |
1 |
16-2090585-C-CTGCGGGGAAGACTGCGGGGA |
c.12143_12144insTCCCCGCAGTCTTCCCCGCA |
p.S4049Pfs*156 |
Frameshift |
45/46 |
- |
1 |
16-2090586-A-G |
c.12143T>C |
p.V4048A |
Missense |
45/46 |
- |
1 |
16-2090587-C-A |
c.12142G>T |
p.V4048L |
Missense |
45/46 |
- |
1 |
16-2090587-C-G |
c.12142G>C |
p.V4048L |
Missense |
45/46 |
- |
1 |
16-2090587-C-T |
c.12142G>A |
p.V4048M |
Missense |
45/46 |
- |
7 |
16-2090588-G-A |
c.12141C>T |
p.L4047= |
Synonymous |
45/46 |
- |
2 |
16-2090588-G-C |
c.12141C>G |
p.L4047= |
Synonymous |
45/46 |
- |
1 |
16-2090595-G-A |
c.12139-5C>T |
- |
IntronicSNV |
- |
44/45 |
1 |
16-2090651-TC-T |
c.12138+22del |
- |
IntronicDeletion |
- |
44/45 |
2 |
16-2090669-C-T |
c.12138+5G>A |
- |
IntronicSNV |
- |
44/45 |
2 |
16-2090674-C-G |
c.12138G>C |
p.L4046= |
Synonymous |
44/46 |
- |
1 |
16-2090674-C-T |
c.12138G>A |
p.L4046= |
Synonymous |
44/46 |
- |
2 |
16-2090675-A-G |
c.12137T>C |
p.L4046P |
Missense |
44/46 |
- |
1 |
16-2090675-A-AG |
c.12136dup |
p.L4046Pfs*111 |
SpliceDonorInsertion |
44/46 |
- |
1 |
16-2090678-A-G |
c.12134T>C |
p.I4045T |
Missense |
44/46 |
- |
1 |
16-2090679-T-C |
c.12133A>G |
p.I4045V |
Missense |
44/46 |
- |
30 |
16-2090688-G-A |
c.12124C>T |
p.Q4042* |
Nonsense |
44/46 |
- |
6 |
16-2090689-G-A |
c.12123C>T |
p.A4041= |
Synonymous |
44/46 |
- |
1 |
16-2090691-C-T |
c.12121G>A |
p.A4041T |
Missense |
44/46 |
- |
2 |
16-2090692-G-C |
c.12120C>G |
p.Y4040* |
Nonsense |
44/46 |
- |
1 |
16-2090696-G-C |
c.12116C>G |
p.A4039G |
Missense |
44/46 |
- |
1 |
16-2090700-C-T |
c.12112G>A |
p.V4038I |
Missense |
44/46 |
- |
1 |
16-2090701-C-T |
c.12111G>A |
p.G4037= |
Synonymous |
44/46 |
- |
1 |
16-2090699-A-AC |
c.12112dup |
p.V4038Gfs*119 |
Frameshift |
44/46 |
- |
1 |
16-2090704-G-A |
c.12108C>T |
p.L4036= |
Synonymous |
44/46 |
- |
1 |
16-2090709-C-T |
c.12103G>A |
p.V4035M |
Missense |
44/46 |
- |
1 |
16-2090711-CA-C |
c.12101del |
p.V4034Gfs*5 |
Frameshift |
44/46 |
- |
1 |
16-2090711-AC-A |
c.12100del |
p.V4034Wfs*5 |
Frameshift |
44/46 |
- |
2 |
16-2090717-C-A |
c.12095G>T |
p.G4032V |
Missense |
44/46 |
- |
1 |
16-2090717-C-T |
c.12095G>A |
p.G4032D |
Missense |
44/46 |
- |
3 |
16-2090718-C-T |
c.12094G>A |
p.G4032S |
Missense |
44/46 |
- |
1 |
16-2090719-C-A |
c.12093G>T |
p.L4031F |
Missense |
44/46 |
- |
1 |
16-2090720-A-G |
c.12092T>C |
p.L4031S |
Missense |
44/46 |
- |
1 |
16-2090720-A-T |
c.12092T>A |
p.L4031* |
Nonsense |
44/46 |
- |
1 |
16-2090725-G-T |
c.12087C>A |
p.V4029= |
Synonymous |
44/46 |
- |
1 |
16-2090726-A-C |
c.12086T>G |
p.V4029G |
Missense |
44/46 |
- |
1 |
16-2090727-C-T |
c.12085G>A |
p.V4029I |
Missense |
44/46 |
- |
3 |
16-2090730-C-T |
c.12082G>A |
p.G4028R |
Missense |
44/46 |
- |
1 |
16-2090726-AC-A |
c.12085del |
p.V4029Sfs*10 |
Frameshift |
44/46 |
- |
1 |
16-2090736-G-C |
c.12076C>G |
p.L4026V |
Missense |
44/46 |
- |
1 |
16-2090737-C-A |
c.12075G>T |
p.E4025D |
Missense |
44/46 |
- |
1 |
16-2090737-C-G |
c.12075G>C |
p.E4025D |
Missense |
44/46 |
- |
1 |
16-2090738-T-C |
c.12074A>G |
p.E4025G |
Missense |
44/46 |
- |
2 |
16-2090739-C-G |
c.12073G>C |
p.E4025Q |
Missense |
44/46 |
- |
1 |
16-2090742-G-A |
c.12070C>T |
p.P4024S |
Missense |
44/46 |
- |
1 |
16-2090742-G-C |
c.12070C>G |
p.P4024A |
Missense |
44/46 |
- |
1 |
16-2090745-G-C |
c.12067C>G |
p.L4023V |
Missense |
44/46 |
- |
1 |
16-2090747-G-A |
c.12065C>T |
p.A4022V |
Missense |
44/46 |
- |
1 |
16-2090751-G-A |
c.12061C>T |
p.R4021* |
Nonsense |
44/46 |
- |
7 |
16-2090752-G-T |
c.12060C>A |
p.C4020* |
Nonsense |
44/46 |
- |
1 |
16-2090756-A-C |
c.12056T>G |
p.L4019* |
Nonsense |
44/46 |
- |
1 |
16-2090759-G-A |
c.12053C>T |
p.T4018I |
Missense |
44/46 |
- |
2 |
16-2090761-C-G |
c.12051G>C |
p.K4017N |
Missense |
44/46 |
- |
2 |
16-2090764-G-A |
c.12048C>T |
p.G4016= |
Synonymous |
44/46 |
- |
1 |
16-2090764-G-C |
c.12048C>G |
p.G4016= |
Synonymous |
44/46 |
- |
1 |
16-2090764-G-T |
c.12048C>A |
p.G4016= |
Synonymous |
44/46 |
- |
1 |
16-2090768-A-C |
c.12044T>G |
p.F4015C |
Missense |
44/46 |
- |
1 |
16-2090769-A-C |
c.12043T>G |
p.F4015V |
Missense |
44/46 |
- |
2 |
16-2090773-G-A |
c.12039C>T |
p.S4013= |
Synonymous |
44/46 |
- |
4 |
16-2090775-A-G |
c.12037T>C |
p.S4013P |
Missense |
44/46 |
- |
1 |
16-2090777-C-T |
c.12035G>A |
p.W4012* |
Nonsense |
44/46 |
- |
2 |
16-2090779-C-T |
c.12033G>A |
p.Q4011= |
Synonymous |
44/46 |
- |
3 |
16-2090780-T-A |
c.12032A>T |
p.Q4011L |
Missense |
44/46 |
- |
1 |
16-2090781-G-A |
c.12031C>T |
p.Q4011* |
Nonsense |
44/46 |
- |
3 |
16-2090783-C-G |
c.12029G>C |
p.R4010P |
Missense |
44/46 |
- |
1 |
16-2090784-G-A |
c.12028C>T |
p.R4010C |
Missense |
44/46 |
- |
4 |
16-2090786-A-T |
c.12026T>A |
p.V4009E |
Missense |
44/46 |
- |
1 |
16-2090787-C-T |
c.12025G>A |
p.V4009M |
Missense |
44/46 |
- |
2 |
16-2090788-G-A |
c.12024C>T |
p.F4008= |
Synonymous |
44/46 |
- |
1 |
16-2090793-G-A |
c.12019C>T |
p.R4007C |
Missense |
44/46 |
- |
3 |
16-2090793-G-T |
c.12019C>A |
p.R4007S |
Missense |
44/46 |
- |
1 |
16-2090796-G-A |
c.12016C>T |
p.L4006= |
Synonymous |
44/46 |
- |
3 |
16-2090796-G-C |
c.12016C>G |
p.L4006V |
Missense |
44/46 |
- |
1 |
16-2090798-T-C |
c.12014A>G |
p.Q4005R |
Missense |
44/46 |
- |
3 |
16-2090799-G-A |
c.12013C>T |
p.Q4005* |
Nonsense |
44/46 |
- |
4 |
16-2090801-T-C |
c.12011A>G |
p.Q4004R |
Missense |
44/46 |
- |
1 |
16-2090802-G-A |
c.12010C>T |
p.Q4004* |
Nonsense |
44/46 |
- |
13 |
16-2090801-TGGGCA-T |
c.12006_12010del |
p.Q4004Afs*151 |
Frameshift |
44/46 |
- |
1 |
16-2090804-G-C |
c.12008C>G |
p.A4003G |
Missense |
44/46 |
- |
1 |
16-2090805-C-T |
c.12007G>A |
p.A4003T |
Missense |
44/46 |
- |
1 |
16-2090807-G-C |
c.12005C>G |
p.A4002G |
Missense |
44/46 |
- |
1 |
16-2090808-C-T |
c.12004G>A |
p.A4002T |
Missense |
44/46 |
- |
1 |
16-2090817-G-A |
c.12004-9C>T |
- |
IntronicSNV |
- |
43/45 |
1 |
16-2090817-G-T |
c.12004-9C>A |
- |
IntronicSNV |
- |
43/45 |
1 |
16-2090842-G-A |
c.12004-34C>T |
- |
IntronicSNV |
- |
43/45 |
3 |
16-2090842-G-C |
c.12004-34C>G |
- |
IntronicSNV |
- |
43/45 |
3 |
16-2090842-G-T |
c.12004-34C>A |
- |
IntronicSNV |
- |
43/45 |
3 |
16-2090848-T-G |
c.12003+36A>C |
- |
IntronicSNV |
- |
43/45 |
1 |
16-2090882-A-G |
c.12003+2T>C |
- |
IntronicSNV |
- |
43/45 |
1 |
16-2090883-C-T |
c.12003+1G>A |
- |
IntronicSNV |
- |
43/45 |
1 |
16-2090884-C-G |
c.12003G>C |
p.K4001N |
Missense |
43/46 |
- |
3 |
16-2090890-C-CAAAAGAAGA |
c.11996_11997insTCTTCTTTT |
p.F3996_L3998dup |
InFrameInsertion |
43/46 |
- |
1 |
16-2090902-G-A |
c.11985C>T |
p.L3995= |
Synonymous |
43/46 |
- |
1 |
16-2090902-G-C |
c.11985C>G |
p.L3995= |
Synonymous |
43/46 |
- |
1 |
16-2090902-G-T |
c.11985C>A |
p.L3995= |
Synonymous |
43/46 |
- |
1 |
16-2090903-A-T |
c.11984T>A |
p.L3995H |
Missense |
43/46 |
- |
1 |
16-2090909-G-A |
c.11978C>T |
p.S3993L |
Missense |
43/46 |
- |
3 |
16-2090911-G-A |
c.11976C>T |
p.A3992= |
Synonymous |
43/46 |
- |
2 |
16-2090911-G-C |
c.11976C>G |
p.A3992= |
Synonymous |
43/46 |
- |
2 |
16-2090911-G-T |
c.11976C>A |
p.A3992= |
Synonymous |
43/46 |
- |
1 |
16-2090914-C-A |
c.11973G>T |
p.A3991= |
Synonymous |
43/46 |
- |
1 |
16-2090914-C-G |
c.11973G>C |
p.A3991= |
Synonymous |
43/46 |
- |
1 |
16-2090914-C-T |
c.11973G>A |
p.A3991= |
Synonymous |
43/46 |
- |
1 |
16-2090915-CG-C |
c.11972del |
p.A3991Gfs*48 |
Frameshift |
43/46 |
- |
1 |
16-2090918-A-C |
c.11969T>G |
p.L3990R |
Missense |
43/46 |
- |
1 |
16-2090923-ACG-CTT |
c.11962_11964delinsAAG |
p.R3988K |
Missense |
43/46 |
- |
1 |
16-2090924-C-T |
c.11963G>A |
p.R3988H |
Missense |
43/46 |
- |
2 |
16-2090925-G-A |
c.11962C>T |
p.R3988C |
Missense |
43/46 |
- |
3 |
16-2090925-G-C |
c.11962C>G |
p.R3988G |
Missense |
43/46 |
- |
1 |
16-2090925-G-T |
c.11962C>A |
p.R3988S |
Missense |
43/46 |
- |
1 |
16-2090926-G-A |
c.11961C>T |
p.A3987= |
Synonymous |
43/46 |
- |
1 |
16-2090927-G-A |
c.11960C>T |
p.A3987V |
Missense |
43/46 |
- |
1 |
16-2090927-G-C |
c.11960C>G |
p.A3987G |
Missense |
43/46 |
- |
1 |
16-2090927-G-GTT |
c.11959_11960insAA |
p.A3987Efs*53 |
Frameshift |
43/46 |
- |
1 |
16-2090930-G-A |
c.11957C>T |
p.A3986V |
Missense |
43/46 |
- |
1 |
16-2090930-G-GC |
c.11956dup |
p.A3986Gfs*171 |
Frameshift |
43/46 |
- |
1 |
16-2090931-C-T |
c.11956G>A |
p.A3986T |
Missense |
43/46 |
- |
1 |
16-2090931-C-CG |
c.11955dup |
p.A3986Rfs*171 |
Frameshift |
43/46 |
- |
1 |
16-2090942-T-G |
c.11945A>C |
p.Q3982P |
Missense |
43/46 |
- |
1 |
16-2090943-G-A |
c.11944C>T |
p.Q3982* |
Nonsense |
43/46 |
- |
3 |
16-2090945-G-A |
c.11942C>T |
p.A3981V |
Missense |
43/46 |
- |
2 |
16-2090952-G-A |
c.11935C>T |
p.Q3979* |
Nonsense |
43/46 |
- |
2 |
16-2090956-G-A |
c.11931C>T |
p.F3977= |
Synonymous |
43/46 |
- |
1 |
16-2090960-C-A |
c.11927G>T |
p.S3976I |
Missense |
43/46 |
- |
1 |
16-2090960-C-G |
c.11927G>C |
p.S3976T |
Missense |
43/46 |
- |
1 |
16-2090970-G-A |
c.11917C>T |
p.R3973C |
Missense |
43/46 |
- |
1 |
16-2090971-G-A |
c.11916C>T |
p.R3972= |
Synonymous |
43/46 |
- |
3 |
16-2090971-G-C |
c.11916C>G |
p.R3972= |
Synonymous |
43/46 |
- |
1 |
16-2090972-C-T |
c.11915G>A |
p.R3972H |
Missense |
43/46 |
- |
1 |
16-2090973-G-A |
c.11914C>T |
p.R3972C |
Missense |
43/46 |
- |
1 |
16-2090974-CGGGCGGCCGCGCACGAAACGGGTCCACTG-C |
c.11884_11912del |
p.Q3962Afs*5 |
Frameshift |
43/46 |
- |
1 |
16-2090979-G-A |
c.11908C>T |
p.R3970C |
Missense |
43/46 |
- |
1 |
16-2090981-C-A |
c.11906G>T |
p.G3969V |
Missense |
43/46 |
- |
1 |
16-2090982-C-T |
c.11905G>A |
p.G3969S |
Missense |
43/46 |
- |
1 |
16-2090999-C-A |
c.11888G>T |
p.W3963L |
Missense |
43/46 |
- |
1 |
16-2090999-C-T |
c.11888G>A |
p.W3963* |
Nonsense |
43/46 |
- |
1 |
16-2091002-CT-C |
c.11885del |
p.Q3962Rfs*22 |
Frameshift |
43/46 |
- |
1 |
16-2091003-G-A |
c.11884C>T |
p.Q3962* |
Nonsense |
43/46 |
- |
4 |
16-2091005-C-A |
c.11882G>T |
p.R3961L |
Missense |
43/46 |
- |
1 |
16-2091007-G-C |
c.11880C>G |
p.D3960E |
Missense |
43/46 |
- |
1 |
16-2091006-GGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCC-G |
c.11835_11880del |
p.A3947Sfs*22 |
Frameshift |
43/46 |
- |
1 |
16-2091015-C-G |
c.11872G>C |
p.A3958P |
Missense |
43/46 |
- |
2 |
16-2091017-C-T |
c.11870G>A |
p.G3957D |
Missense |
43/46 |
- |
4 |
16-2091019-C-T |
c.11868G>A |
p.L3956= |
Synonymous |
43/46 |
- |
1 |
16-2091023-T-A |
c.11864A>T |
p.Q3955L |
Missense |
43/46 |
- |
1 |
16-2091024-G-A |
c.11863C>T |
p.Q3955* |
Nonsense |
43/46 |
- |
1 |
16-2091023-T-TG |
c.11863dup |
p.Q3955Pfs*6 |
Frameshift |
43/46 |
- |
2 |
16-2091027-C-G |
c.11860G>C |
p.A3954P |
Missense |
43/46 |
- |
3 |
16-2091028-G-A |
c.11859C>T |
p.L3953= |
Synonymous |
43/46 |
- |
1 |
16-2091031-G-C |
c.11856C>G |
p.R3952= |
Synonymous |
43/46 |
- |
1 |
16-2091033-G-A |
c.11854C>T |
p.R3952C |
Missense |
43/46 |
- |
1 |
16-2091033-G-GT |
c.11853dup |
p.R3952Tfs*9 |
Frameshift |
43/46 |
- |
1 |
16-2091035-A-C |
c.11852T>G |
p.V3951G |
Missense |
43/46 |
- |
1 |
16-2091040-T-TG |
c.11846dup |
p.L3950Tfs*11 |
Frameshift |
43/46 |
- |
1 |
16-2091042-GCCGTGGCCGCCGTCAGCGCCACCAGC-G |
c.11820_11845del |
p.L3941Tfs*11 |
Frameshift |
43/46 |
- |
1 |
16-2091051-C-T |
c.11836G>A |
p.A3946T |
Missense |
43/46 |
- |
1 |
16-2091053-G-A |
c.11834C>T |
p.T3945M |
Missense |
43/46 |
- |
3 |
16-2091056-A-C |
c.11831T>G |
p.L3944R |
Missense |
43/46 |
- |
1 |
16-2091064-C-T |
c.11823G>A |
p.L3941= |
Synonymous |
43/46 |
- |
1 |
16-2091070-C-T |
c.11817G>A |
p.W3939* |
Nonsense |
43/46 |
- |
1 |
16-2091074-C-T |
c.11813G>A |
p.R3938Q |
Missense |
43/46 |
- |
1 |
16-2091079-C-T |
c.11808G>A |
p.W3936* |
Nonsense |
43/46 |
- |
1 |
16-2091080-C-T |
c.11807G>A |
p.W3936* |
Nonsense |
43/46 |
- |
1 |
16-2091086-C-G |
c.11801G>C |
p.G3934A |
Missense |
43/46 |
- |
1 |
16-2091088-G-A |
c.11799C>T |
p.L3933= |
Synonymous |
43/46 |
- |
1 |
16-2091088-G-C |
c.11799C>G |
p.L3933= |
Synonymous |
43/46 |
- |
1 |
16-2091088-G-T |
c.11799C>A |
p.L3933= |
Synonymous |
43/46 |
- |
1 |
16-2091091-C-A |
c.11796G>T |
p.R3932= |
Synonymous |
43/46 |
- |
1 |
16-2091091-C-G |
c.11796G>C |
p.R3932= |
Synonymous |
43/46 |
- |
1 |
16-2091091-C-T |
c.11796G>A |
p.R3932= |
Synonymous |
43/46 |
- |
1 |
16-2091093-G-T |
c.11794C>A |
p.R3932= |
Synonymous |
43/46 |
- |
1 |
16-2091105-A-C |
c.11782T>G |
p.W3928G |
Missense |
43/46 |
- |
1 |
16-2091105-CA-C |
c.11782del |
p.W3928Gfs*17 |
Frameshift |
43/46 |
- |
1 |
16-2091119-T-TTTGG |
c.11767_11768insCCAA |
p.H3923Pfs*39 |
Frameshift |
43/46 |
- |
1 |
16-2091121-C-T |
c.11766G>A |
p.W3922* |
Nonsense |
43/46 |
- |
1 |
16-2091128-C-CG |
c.11758dup |
p.R3920Pfs*41 |
Frameshift |
43/46 |
- |
1 |
16-2091132-CCTCGGCCA-C |
c.11747_11754del |
p.V3916Gfs*42 |
Frameshift |
43/46 |
- |
1 |
16-2091135-C-A |
c.11752G>T |
p.E3918* |
Nonsense |
43/46 |
- |
1 |
16-2091135-C-T |
c.11752G>A |
p.E3918K |
Missense |
43/46 |
- |
1 |
16-2091143-G-T |
c.11744C>A |
p.A3915D |
Missense |
43/46 |
- |
1 |
16-2091164-A-G |
c.11723T>C |
p.L3908P |
Missense |
43/46 |
- |
1 |
16-2091159-ACAG-A |
c.11725_11727del |
p.L3909del |
InFrameDeletion |
43/46 |
- |
1 |
16-2091170-C-A |
c.11717G>T |
p.C3906F |
Missense |
43/46 |
- |
1 |
16-2091247-C-CGAGGGGGCGGGGCGCTG |
c.11713-74_11713-73insCAGCGCCCCGCCCCCTC |
- |
IntronicInsertion |
- |
42/45 |
1 |
16-2091248-C-A |
c.11713-74G>T |
- |
IntronicSNV |
- |
42/45 |
1 |
16-2091248-C-G |
c.11713-74G>C |
- |
IntronicSNV |
- |
42/45 |
1 |
16-2091248-C-T |
c.11713-74G>A |
- |
IntronicSNV |
- |
42/45 |
1 |
16-2091259-C-G |
c.11713-85G>C |
- |
IntronicSNV |
- |
42/45 |
1 |
16-2091262-A-C |
c.11713-88T>G |
- |
IntronicSNV |
- |
42/45 |
4 |
16-2091262-A-G |
c.11713-88T>C |
- |
IntronicSNV |
- |
42/45 |
4 |
16-2091296-G-A |
c.11713-122C>T |
- |
IntronicSNV |
- |
42/45 |
1 |
16-2091394-G-A |
c.11712+29C>T |
- |
IntronicSNV |
- |
42/45 |
1 |
16-2091422-C-T |
c.11712+1G>A |
- |
IntronicSNV |
- |
42/45 |
1 |
16-2091423-C-T |
c.11712G>A |
p.S3904= |
Synonymous |
42/46 |
- |
1 |
16-2091431-G-T |
c.11704C>A |
p.L3902I |
Missense |
42/46 |
- |
1 |
16-2091432-C-A |
c.11703G>T |
p.L3901= |
Synonymous |
42/46 |
- |
1 |
16-2091432-C-G |
c.11703G>C |
p.L3901= |
Synonymous |
42/46 |
- |
1 |
16-2091432-C-T |
c.11703G>A |
p.L3901= |
Synonymous |
42/46 |
- |
1 |
16-2091433-A-G |
c.11702T>C |
p.L3901P |
Missense |
42/46 |
- |
1 |
16-2091434-G-A |
c.11701C>T |
p.L3901= |
Synonymous |
42/46 |
- |
2 |
16-2091434-G-C |
c.11701C>G |
p.L3901V |
Missense |
42/46 |
- |
2 |
16-2091437-G-A |
c.11698C>T |
p.P3900S |
Missense |
42/46 |
- |
2 |
16-2091442-G-A |
c.11693C>T |
p.S3898L |
Missense |
42/46 |
- |
1 |
16-2091442-G-T |
c.11693C>A |
p.S3898* |
Nonsense |
42/46 |
- |
2 |
16-2091441-CGAGA-C |
c.11690_11693del |
p.L3897Rfs*47 |
Frameshift |
42/46 |
- |
1 |
16-2091446-G-A |
c.11689C>T |
p.L3897F |
Missense |
42/46 |
- |
3 |
16-2091453-G-A |
c.11682C>T |
p.S3894= |
Synonymous |
42/46 |
- |
4 |
16-2091452-CGCT-C |
c.11680_11682del |
p.S3894del |
InFrameDeletion |
42/46 |
- |
1 |
16-2091456-G-A |
c.11679C>T |
p.L3893= |
Synonymous |
42/46 |
- |
1 |
16-2091451-GCGCTGAGGCGGCGCAGCGCAAAGGGGCGGA-G |
c.11654_11683del |
p.V3885_S3894del |
InFrameDeletion |
42/46 |
- |
1 |
16-2091460-C-T |
c.11675G>A |
p.R3892H |
Missense |
42/46 |
- |
1 |
16-2091463-C-T |
c.11672G>A |
p.R3891H |
Missense |
42/46 |
- |
4 |
16-2091464-G-T |
c.11671C>A |
p.R3891S |
Missense |
42/46 |
- |
1 |
16-2091475-G-C |
c.11660C>G |
p.P3887R |
Missense |
42/46 |
- |
1 |
16-2091483-G-A |
c.11652C>T |
p.S3884= |
Synonymous |
42/46 |
- |
1 |
16-2091490-GGCGGCCAGGGCGCGGCCGGCCGC-G |
c.11623_11645del |
p.A3875Pfs*78 |
Frameshift |
42/46 |
- |
1 |
16-2091498-GGGCGCGGCCGGCCGCCGGGAA-G |
c.11617_11637del |
p.F3873_A3879del |
InFrameDeletion |
42/46 |
- |
1 |
16-2091499-G-A |
c.11636C>T |
p.A3879V |
Missense |
42/46 |
- |
1 |
16-2091500-C-T |
c.11635G>A |
p.A3879T |
Missense |
42/46 |
- |
2 |
16-2091503-G-T |
c.11632C>A |
p.R3878S |
Missense |
42/46 |
- |
1 |
16-2091504-G-A |
c.11631C>T |
p.G3877= |
Synonymous |
42/46 |
- |
1 |
16-2091504-G-C |
c.11631C>G |
p.G3877= |
Synonymous |
42/46 |
- |
1 |
16-2091504-G-T |
c.11631C>A |
p.G3877= |
Synonymous |
42/46 |
- |
1 |
16-2091518-A-C |
c.11617T>G |
p.F3873V |
Missense |
42/46 |
- |
1 |
16-2091519-C-T |
c.11616G>A |
p.E3872= |
Synonymous |
42/46 |
- |
4 |
16-2091521-C-A |
c.11614G>T |
p.E3872* |
Nonsense |
42/46 |
- |
5 |
16-2091521-C-T |
c.11614G>A |
p.E3872K |
Missense |
42/46 |
- |
1 |
16-2091527-G-A |
c.11608C>T |
p.R3870C |
Missense |
42/46 |
- |
1 |
16-2091531-C-G |
c.11604G>C |
p.T3868= |
Synonymous |
42/46 |
- |
1 |
16-2091537-G-A |
c.11598C>T |
p.A3866= |
Synonymous |
42/46 |
- |
1 |
16-2091537-G-C |
c.11598C>G |
p.A3866= |
Synonymous |
42/46 |
- |
1 |
16-2091537-G-T |
c.11598C>A |
p.A3866= |
Synonymous |
42/46 |
- |
1 |
16-2091539-C-T |
c.11596G>A |
p.A3866T |
Missense |
42/46 |
- |
1 |
16-2091540-G-A |
c.11595C>T |
p.A3865= |
Synonymous |
42/46 |
- |
1 |
16-2091540-G-C |
c.11595C>G |
p.A3865= |
Synonymous |
42/46 |
- |
1 |
16-2091540-G-T |
c.11595C>A |
p.A3865= |
Synonymous |
42/46 |
- |
1 |
16-2091544-T-G |
c.11591A>C |
p.H3864P |
Missense |
42/46 |
- |
1 |
16-2091550-C-T |
c.11585G>A |
p.G3862E |
Missense |
42/46 |
- |
1 |
16-2091551-C-G |
c.11584G>C |
p.G3862R |
Missense |
42/46 |
- |
1 |
16-2091551-C-T |
c.11584G>A |
p.G3862R |
Missense |
42/46 |
- |
1 |
16-2091568-C-T |
c.11567G>A |
p.R3856H |
Missense |
42/46 |
- |
1 |
16-2091569-G-A |
c.11566C>T |
p.R3856C |
Missense |
42/46 |
- |
1 |
16-2091576-C-A |
c.11559G>T |
p.E3853D |
Missense |
42/46 |
- |
1 |
16-2091579-C-A |
c.11556G>T |
p.L3852= |
Synonymous |
42/46 |
- |
2 |
16-2091579-C-G |
c.11556G>C |
p.L3852= |
Synonymous |
42/46 |
- |
1 |
16-2091579-C-T |
c.11556G>A |
p.L3852= |
Synonymous |
42/46 |
- |
1 |
16-2091581-G-A |
c.11554C>T |
p.L3852= |
Synonymous |
42/46 |
- |
1 |
16-2091580-A-G |
c.11555T>C |
p.L3852P |
Missense |
42/46 |
- |
1 |
16-2091580-AG-A |
c.11554del |
p.L3852Wfs*93 |
Frameshift |
42/46 |
- |
3 |
16-2091587-C-T |
c.11548G>A |
p.V3850M |
Missense |
42/46 |
- |
1 |
16-2091589-GC-AG |
c.11545_11546delinsCT |
p.A3849L |
Missense |
42/46 |
- |
1 |
16-2091590-C-G |
c.11545G>C |
p.A3849P |
Missense |
42/46 |
- |
1 |
16-2091590-GC-G |
c.11545del |
p.A3849Lfs*96 |
Frameshift |
42/46 |
- |
1 |
16-2091591-GCG-CTC |
c.11542_11544delinsGAG |
p.R3848E |
Missense |
42/46 |
- |
1 |
16-2091594-G-C |
c.11541C>G |
p.S3847R |
Missense |
42/46 |
- |
2 |
16-2091594-G-T |
c.11541C>A |
p.S3847R |
Missense |
42/46 |
- |
1 |
16-2091596-T-G |
c.11539A>C |
p.S3847R |
Missense |
42/46 |
- |
2 |
16-2091614-G-A |
c.11538-17C>T |
- |
IntronicSNV |
- |
41/45 |
1 |
16-2091614-G-C |
c.11538-17C>G |
- |
IntronicSNV |
- |
41/45 |
1 |
16-2091614-G-T |
c.11538-17C>A |
- |
IntronicSNV |
- |
41/45 |
1 |
16-2091688-GC-G |
c.11537+92del |
- |
IntronicDeletion |
- |
41/45 |
1 |
16-2091761-G-A |
c.11537+20C>T |
- |
IntronicSNV |
- |
41/45 |
1 |
16-2091764-G-A |
c.11537+17C>T |
- |
IntronicSNV |
- |
41/45 |
1 |
16-2091764-G-T |
c.11537+17C>A |
- |
IntronicSNV |
- |
41/45 |
1 |
16-2091775-T-TCCC |
c.11537+3_11537+5dup |
- |
IntronicInsertion |
- |
41/45 |
3 |
16-2091775-T-TC |
c.11537+5dup |
- |
IntronicInsertion |
- |
41/45 |
3 |
16-2091779-A-C |
c.11537+2T>G |
- |
IntronicSNV |
- |
41/45 |
1 |
16-2091779-A-T |
c.11537+2T>A |
- |
IntronicSNV |
- |
41/45 |
1 |
16-2091782-T-C |
c.11536A>G |
p.R3846G |
Missense |
41/46 |
- |
1 |
16-2091784-T-C |
c.11534A>G |
p.N3845S |
Missense |
41/46 |
- |
1 |
16-2091783-G-GT |
c.11534dup |
p.N3845Kfs*116 |
Frameshift |
41/46 |
- |
1 |
16-2091785-T-C |
c.11533A>G |
p.N3845D |
Missense |
41/46 |
- |
1 |
16-2091782-TGTTGTCCAGCCA-T |
c.11524_11535del |
p.W3842_N3845del |
InFrameDeletion |
41/46 |
- |
1 |
16-2091790-A-G |
c.11528T>C |
p.L3843P |
Missense |
41/46 |
- |
1 |
16-2091791-G-C |
c.11527C>G |
p.L3843V |
Missense |
41/46 |
- |
1 |
16-2091792-C-A |
c.11526G>T |
p.W3842C |
Missense |
41/46 |
- |
1 |
16-2091792-C-T |
c.11526G>A |
p.W3842* |
Nonsense |
41/46 |
- |
1 |
16-2091793-C-T |
c.11525G>A |
p.W3842* |
Nonsense |
41/46 |
- |
3 |
16-2091794-A-G |
c.11524T>C |
p.W3842R |
Missense |
41/46 |
- |
5 |
16-2091794-A-T |
c.11524T>A |
p.W3842R |
Missense |
41/46 |
- |
1 |
16-2091795-G-A |
c.11523C>T |
p.N3841= |
Synonymous |
41/46 |
- |
2 |
16-2091799-T-C |
c.11519A>G |
p.H3840R |
Missense |
41/46 |
- |
1 |
16-2091800-G-T |
c.11518C>A |
p.H3840N |
Missense |
41/46 |
- |
1 |
16-2091806-G-A |
c.11512C>T |
p.Q3838* |
Nonsense |
41/46 |
- |
3 |
16-2091806-G-T |
c.11512C>A |
p.Q3838K |
Missense |
41/46 |
- |
1 |
16-2091808-A-G |
c.11510T>C |
p.L3837P |
Missense |
41/46 |
- |
1 |
16-2091809-G-T |
c.11509C>A |
p.L3837M |
Missense |
41/46 |
- |
1 |
16-2091814-CG-GC |
c.11503_11504delinsGC |
p.R3835A |
Missense |
41/46 |
- |
1 |
16-2091814-C-T |
c.11504G>A |
p.R3835H |
Missense |
41/46 |
- |
1 |
16-2091815-G-A |
c.11503C>T |
p.R3835C |
Missense |
41/46 |
- |
1 |
16-2091817-A-T |
c.11501T>A |
p.L3834Q |
Missense |
41/46 |
- |
1 |
16-2091820-C-A |
c.11498G>T |
p.R3833L |
Missense |
41/46 |
- |
1 |
16-2091820-C-G |
c.11498G>C |
p.R3833P |
Missense |
41/46 |
- |
1 |
16-2091821-G-A |
c.11497C>T |
p.R3833W |
Missense |
41/46 |
- |
1 |
16-2091821-G-C |
c.11497C>G |
p.R3833G |
Missense |
41/46 |
- |
1 |
16-2091822-G-A |
c.11496C>T |
p.D3832= |
Synonymous |
41/46 |
- |
1 |
16-2091822-G-C |
c.11496C>G |
p.D3832E |
Missense |
41/46 |
- |
1 |
16-2091824-C-A |
c.11494G>T |
p.D3832Y |
Missense |
41/46 |
- |
1 |
16-2091827-G-GGCGGTC |
c.11490_11491insGACCGC |
p.S3830_R3831insDR |
InFrameInsertion |
41/46 |
- |
1 |
16-2091829-GCTC-G |
c.11487_11489del |
p.E3829_S3830delinsD |
MultiAAMissense |
41/46 |
- |
1 |
16-2091831-C-T |
c.11487G>A |
p.E3829= |
Synonymous |
41/46 |
- |
1 |
16-2091833-C-T |
c.11485G>A |
p.E3829K |
Missense |
41/46 |
- |
1 |
16-2091830-TCTC-T |
c.11485_11487del |
p.E3829del |
InFrameDeletion |
41/46 |
- |
1 |
16-2091835-T-C |
c.11483A>G |
p.E3828G |
Missense |
41/46 |
- |
1 |
16-2091844-A-AG |
c.11473dup |
p.L3825Pfs*136 |
Frameshift |
41/46 |
- |
1 |
16-2091847-C-A |
c.11471G>T |
p.G3824V |
Missense |
41/46 |
- |
1 |
16-2091850-A-G |
c.11468T>C |
p.L3823P |
Missense |
41/46 |
- |
1 |
16-2091853-T-C |
c.11465A>G |
p.E3822G |
Missense |
41/46 |
- |
1 |
16-2091861-G-C |
c.11457C>G |
p.Y3819* |
Nonsense |
41/46 |
- |
2 |
16-2091861-G-T |
c.11457C>A |
p.Y3819* |
Nonsense |
41/46 |
- |
3 |
16-2091862-T-C |
c.11456A>G |
p.Y3819C |
Missense |
41/46 |
- |
1 |
16-2091863-A-T |
c.11455T>A |
p.Y3819N |
Missense |
41/46 |
- |
1 |
16-2091864-G-A |
c.11454C>T |
p.G3818= |
Synonymous |
41/46 |
- |
1 |
16-2091865-C-G |
c.11453G>C |
p.G3818A |
Missense |
41/46 |
- |
2 |
16-2091865-C-T |
c.11453G>A |
p.G3818D |
Missense |
41/46 |
- |
3 |
16-2091866-C-A |
c.11452G>T |
p.G3818C |
Missense |
41/46 |
- |
1 |
16-2091866-C-G |
c.11452G>C |
p.G3818R |
Missense |
41/46 |
- |
2 |
16-2091866-C-T |
c.11452G>A |
p.G3818S |
Missense |
41/46 |
- |
1 |
16-2091867-CC-GT |
c.11450_11451delinsAC |
p.G3817D |
Missense |
41/46 |
- |
1 |
16-2091869-C-G |
c.11449G>C |
p.G3817R |
Missense |
41/46 |
- |
1 |
16-2091871-C-T |
c.11447G>A |
p.S3816N |
Missense |
41/46 |
- |
1 |
16-2091875-C-T |
c.11443G>A |
p.D3815N |
Missense |
41/46 |
- |
1 |
16-2091882-G-A |
c.11436C>T |
p.A3812= |
Synonymous |
41/46 |
- |
3 |
16-2091882-G-C |
c.11436C>G |
p.A3812= |
Synonymous |
41/46 |
- |
1 |
16-2091883-G-GA |
c.11434_11435insT |
p.A3812Vfs*4 |
Frameshift |
41/46 |
- |
1 |
16-2091889-G-T |
c.11429C>A |
p.S3810Y |
Missense |
41/46 |
- |
1 |
16-2091892-C-A |
c.11426G>T |
p.G3809V |
Missense |
41/46 |
- |
1 |
16-2091892-C-T |
c.11426G>A |
p.G3809D |
Missense |
41/46 |
- |
1 |
16-2091895-C-T |
c.11423G>A |
p.W3808* |
Nonsense |
41/46 |
- |
1 |
16-2091896-A-G |
c.11422T>C |
p.W3808R |
Missense |
41/46 |
- |
1 |
16-2091898-G-A |
c.11420C>T |
p.S3807F |
Missense |
41/46 |
- |
1 |
16-2091901-C-T |
c.11417G>A |
p.W3806* |
Nonsense |
41/46 |
- |
1 |
16-2091904-G-A |
c.11414C>T |
p.A3805V |
Missense |
41/46 |
- |
1 |
16-2092047-C-A |
c.11411G>T |
p.G3804V |
Missense |
40/46 |
- |
1 |
16-2092045-A-AC |
c.11411+1dup |
- |
Frameshift |
40/46 |
- |
1 |
16-2092062-G-A |
c.11396C>T |
p.A3799V |
Missense |
40/46 |
- |
1 |
16-2092065-GA-G |
c.11392del |
p.S3798Qfs*28 |
Frameshift |
40/46 |
- |
1 |
16-2092068-T-C |
c.11390A>G |
p.Y3797C |
Missense |
40/46 |
- |
1 |
16-2092071-G-C |
c.11387C>G |
p.A3796G |
Missense |
40/46 |
- |
1 |
16-2092077-G-A |
c.11381C>T |
p.T3794M |
Missense |
40/46 |
- |
1 |
16-2092077-G-T |
c.11381C>A |
p.T3794K |
Missense |
40/46 |
- |
1 |
16-2092080-C-G |
c.11378G>C |
p.G3793A |
Missense |
40/46 |
- |
1 |
16-2092078-TC-T |
c.11379del |
p.T3794Rfs*32 |
Frameshift |
40/46 |
- |
3 |
16-2092082-C-G |
c.11376G>C |
p.S3792= |
Synonymous |
40/46 |
- |
1 |
16-2092082-C-CG |
c.11375dup |
p.T3794Dfs*22 |
Frameshift |
40/46 |
- |
1 |
16-2092085-G-GTC |
c.11372_11373insGA |
p.S3792Tfs*35 |
Frameshift |
40/46 |
- |
1 |
16-2092088-A-G |
c.11370T>C |
p.N3790= |
Synonymous |
40/46 |
- |
1 |
16-2092091-G-T |
c.11367C>A |
p.H3789Q |
Missense |
40/46 |
- |
1 |
16-2092093-G-A |
c.11365C>T |
p.H3789Y |
Missense |
40/46 |
- |
1 |
16-2092097-A-T |
c.11361T>A |
p.S3787R |
Missense |
40/46 |
- |
1 |
16-2092098-C-T |
c.11360G>A |
p.S3787N |
Missense |
40/46 |
- |
1 |
16-2092097-ACT-A |
c.11359_11360del |
p.P3788Sfs*27 |
Frameshift |
40/46 |
- |
2 |
16-2092102-C-G |
c.11356G>C |
p.E3786Q |
Missense |
40/46 |
- |
2 |
16-2092103-C-T |
c.11355G>A |
p.W3785* |
Nonsense |
40/46 |
- |
2 |
16-2092104-C-A |
c.11354G>T |
p.W3785L |
Missense |
40/46 |
- |
1 |
16-2092104-C-G |
c.11354G>C |
p.W3785S |
Missense |
40/46 |
- |
1 |
16-2092104-C-T |
c.11354G>A |
p.W3785* |
Nonsense |
40/46 |
- |
1 |
16-2092107-C-A |
c.11351G>T |
p.G3784V |
Missense |
40/46 |
- |
1 |
16-2092111-C-T |
c.11347G>A |
p.V3783I |
Missense |
40/46 |
- |
4 |
16-2092112-G-A |
c.11346C>T |
p.D3782= |
Synonymous |
40/46 |
- |
7 |
16-2092112-G-T |
c.11346C>A |
p.D3782E |
Missense |
40/46 |
- |
1 |
16-2092110-ACGTCGTAAT-A |
c.11339_11347del |
p.D3780_D3782del |
InFrameDeletion |
40/46 |
- |
2 |
16-2092112-G-GT |
c.11345dup |
p.D3782Efs*34 |
Frameshift |
40/46 |
- |
1 |
16-2092110-ACGT-A |
c.11345_11347del |
p.D3782del |
InFrameDeletion |
40/46 |
- |
2 |
16-2092111-C-CGTCATA |
c.11346_11347insTATGAC |
p.Y3781_D3782dup |
InFrameInsertion |
40/46 |
- |
1 |
16-2092112-G-GTCT |
c.11345_11346insAGA |
p.Y3781_D3782insE |
InFrameInsertion |
40/46 |
- |
1 |
16-2092114-C-T |
c.11344G>A |
p.D3782N |
Missense |
40/46 |
- |
1 |
16-2092115-G-C |
c.11343C>G |
p.Y3781* |
Nonsense |
40/46 |
- |
4 |
16-2092115-G-T |
c.11343C>A |
p.Y3781* |
Nonsense |
40/46 |
- |
4 |
16-2092112-GTCGTAA-G |
c.11340_11345del |
p.Y3781_D3782del |
InFrameDeletion |
40/46 |
- |
1 |
16-2092115-GTAA-G |
c.11340_11342del |
p.Y3781del |
InFrameDeletion |
40/46 |
- |
1 |
16-2092121-G-C |
c.11337C>G |
p.S3779R |
Missense |
40/46 |
- |
3 |
16-2092124-G-C |
c.11334C>G |
p.T3778= |
Synonymous |
40/46 |
- |
1 |
16-2092125-G-T |
c.11333C>A |
p.T3778N |
Missense |
40/46 |
- |
7 |
16-2092126-T-C |
c.11332A>G |
p.T3778A |
Missense |
40/46 |
- |
1 |
16-2092131-A-G |
c.11327T>C |
p.F3776S |
Missense |
40/46 |
- |
1 |
16-2092135-C-T |
c.11323G>A |
p.G3775S |
Missense |
40/46 |
- |
1 |
16-2092137-C-A |
c.11321G>T |
p.G3774V |
Missense |
40/46 |
- |
1 |
16-2092141-C-CG |
c.11316dup |
p.A3773Rfs*43 |
Frameshift |
40/46 |
- |
1 |
16-2092144-C-A |
c.11314G>T |
p.A3772S |
Missense |
40/46 |
- |
1 |
16-2092143-GC-G |
c.11314del |
p.A3772Pfs*54 |
Frameshift |
40/46 |
- |
2 |
16-2092145-C-T |
c.11313G>A |
p.S3771= |
Synonymous |
40/46 |
- |
2 |
16-2092151-ACGT-A |
c.11305_11307del |
p.T3769del |
InFrameDeletion |
40/46 |
- |
1 |
16-2092152-G-A |
c.11306C>T |
p.T3769M |
Missense |
40/46 |
- |
2 |
16-2092151-CGT-C |
c.11305_11306del |
p.T3769Vfs*46 |
Frameshift |
40/46 |
- |
1 |
16-2092168-C-T |
c.11290G>A |
p.G3764S |
Missense |
40/46 |
- |
1 |
16-2092173-G-A |
c.11285C>T |
p.P3762L |
Missense |
40/46 |
- |
2 |
16-2092182-TAG-T |
c.11274_11275del |
p.Y3759Pfs*56 |
Frameshift |
40/46 |
- |
2 |
16-2092186-G-A |
c.11272C>T |
p.L3758F |
Missense |
40/46 |
- |
1 |
16-2092352-G-A |
c.11269+128C>T |
- |
IntronicSNV |
- |
39/45 |
3 |
16-2092479-C-G |
c.11269+1G>C |
- |
IntronicSNV |
- |
39/45 |
2 |
16-2092479-C-T |
c.11269+1G>A |
- |
IntronicSNV |
- |
39/45 |
1 |
16-2092480-C-CA |
c.11268_11269insT |
p.A3757Cfs*59 |
SpliceDonorInsertion |
39/46 |
- |
1 |
16-2092480-C-CG |
c.11268_11269insC |
p.A3757Rfs*59 |
SpliceDonorInsertion |
39/46 |
- |
1 |
16-2092480-C-CT |
c.11268dup |
p.A3757Sfs*59 |
SpliceDonorInsertion |
39/46 |
- |
1 |
16-2092483-C-T |
c.11266G>A |
p.E3756K |
Missense |
39/46 |
- |
1 |
16-2092487-C-G |
c.11262G>C |
p.L3754= |
Synonymous |
39/46 |
- |
2 |
16-2092489-G-A |
c.11260C>T |
p.L3754= |
Synonymous |
39/46 |
- |
1 |
16-2092491-C-A |
c.11258G>T |
p.R3753L |
Missense |
39/46 |
- |
1 |
16-2092491-C-G |
c.11258G>C |
p.R3753P |
Missense |
39/46 |
- |
1 |
16-2092491-C-T |
c.11258G>A |
p.R3753Q |
Missense |
39/46 |
- |
5 |
16-2092492-G-A |
c.11257C>T |
p.R3753W |
Missense |
39/46 |
- |
10 |
16-2092492-G-C |
c.11257C>G |
p.R3753G |
Missense |
39/46 |
- |
1 |
16-2092492-G-T |
c.11257C>A |
p.R3753= |
Synonymous |
39/46 |
- |
1 |
16-2092485-TGCAGCCGCACCTGCC-T |
c.11249_11263del |
p.R3750_L3754del |
InFrameDeletion |
39/46 |
- |
1 |
16-2092492-G-GC |
c.11256dup |
p.R3753Afs*63 |
Frameshift |
39/46 |
- |
1 |
16-2092495-C-G |
c.11254G>C |
p.V3752L |
Missense |
39/46 |
- |
1 |
16-2092497-T-A |
c.11252A>T |
p.Q3751L |
Missense |
39/46 |
- |
2 |
16-2092497-T-C |
c.11252A>G |
p.Q3751R |
Missense |
39/46 |
- |
2 |
16-2092498-G-A |
c.11251C>T |
p.Q3751* |
Nonsense |
39/46 |
- |
1 |
16-2092500-C-G |
c.11249G>C |
p.R3750P |
Missense |
39/46 |
- |
2 |
16-2092500-C-T |
c.11249G>A |
p.R3750Q |
Missense |
39/46 |
- |
6 |
16-2092501-G-A |
c.11248C>T |
p.R3750W |
Missense |
39/46 |
- |
1 |
16-2092501-G-C |
c.11248C>G |
p.R3750G |
Missense |
39/46 |
- |
3 |
16-2092503-A-G |
c.11246T>C |
p.L3749P |
Missense |
39/46 |
- |
1 |
16-2092504-G-T |
c.11245C>A |
p.L3749M |
Missense |
39/46 |
- |
1 |
16-2092506-C-G |
c.11243G>C |
p.R3748P |
Missense |
39/46 |
- |
1 |
16-2092508-TG-T |
c.11240del |
p.P3747Hfs*79 |
Frameshift |
39/46 |
- |
2 |
16-2092513-G-C |
c.11236C>G |
p.P3746A |
Missense |
39/46 |
- |
1 |
16-2092519-G-C |
c.11230C>G |
p.L3744V |
Missense |
39/46 |
- |
1 |
16-2092524-G-C |
c.11225C>G |
p.P3742R |
Missense |
39/46 |
- |
1 |
16-2092525-G-A |
c.11224C>T |
p.P3742S |
Missense |
39/46 |
- |
1 |
16-2092527-C-A |
c.11222G>T |
p.S3741I |
Missense |
39/46 |
- |
1 |
16-2092538-C-T |
c.11211G>A |
p.G3737= |
Synonymous |
39/46 |
- |
2 |
16-2092539-C-T |
c.11210G>A |
p.G3737E |
Missense |
39/46 |
- |
1 |
16-2092540-C-G |
c.11209G>C |
p.G3737R |
Missense |
39/46 |
- |
1 |
16-2092540-C-T |
c.11209G>A |
p.G3737R |
Missense |
39/46 |
- |
2 |
16-2092546-C-T |
c.11203G>A |
p.V3735I |
Missense |
39/46 |
- |
1 |
16-2092547-G-A |
c.11202C>T |
p.Y3734= |
Synonymous |
39/46 |
- |
2 |
16-2092547-G-T |
c.11202C>A |
p.Y3734* |
Nonsense |
39/46 |
- |
1 |
16-2092548-T-C |
c.11201A>G |
p.Y3734C |
Missense |
39/46 |
- |
2 |
16-2092549-A-G |
c.11200T>C |
p.Y3734H |
Missense |
39/46 |
- |
1 |
16-2092553-C-T |
c.11196G>A |
p.L3732= |
Synonymous |
39/46 |
- |
1 |
16-2092557-A-C |
c.11192T>G |
p.L3731R |
Missense |
39/46 |
- |
1 |
16-2092557-A-T |
c.11192T>A |
p.L3731Q |
Missense |
39/46 |
- |
1 |
16-2092562-G-A |
c.11187C>T |
p.H3729= |
Synonymous |
39/46 |
- |
3 |
16-2092563-T-G |
c.11186A>C |
p.H3729P |
Missense |
39/46 |
- |
1 |
16-2092564-G-A |
c.11185C>T |
p.H3729Y |
Missense |
39/46 |
- |
1 |
16-2092567-C-T |
c.11182G>A |
p.A3728T |
Missense |
39/46 |
- |
1 |
16-2092569-A-G |
c.11180T>C |
p.M3727T |
Missense |
39/46 |
- |
1 |
16-2092572-C-G |
c.11177G>C |
p.W3726S |
Missense |
39/46 |
- |
1 |
16-2092573-A-G |
c.11176T>C |
p.W3726R |
Missense |
39/46 |
- |
1 |
16-2092576-G-A |
c.11173C>T |
p.P3725S |
Missense |
39/46 |
- |
1 |
16-2092577-C-T |
c.11172G>A |
p.W3724* |
Nonsense |
39/46 |
- |
1 |
16-2092578-C-T |
c.11171G>A |
p.W3724* |
Nonsense |
39/46 |
- |
2 |
16-2092582-G-A |
c.11167C>T |
p.L3723F |
Missense |
39/46 |
- |
2 |
16-2092588-C-T |
c.11161G>A |
p.E3721K |
Missense |
39/46 |
- |
1 |
16-2092941-C-T |
c.11156+13G>A |
- |
IntronicSNV |
- |
38/45 |
2 |
16-2092942-G-A |
c.11156+12C>T |
- |
IntronicSNV |
- |
38/45 |
1 |
16-2092953-C-G |
c.11156+1G>C |
- |
IntronicSNV |
- |
38/45 |
1 |
16-2092953-C-T |
c.11156+1G>A |
- |
IntronicSNV |
- |
38/45 |
1 |
16-2092954-C-A |
c.11156G>T |
p.R3719L |
Missense |
38/46 |
- |
1 |
16-2092954-C-T |
c.11156G>A |
p.R3719Q |
Missense |
38/46 |
- |
6 |
16-2092957-G-A |
c.11153C>T |
p.T3718M |
Missense |
38/46 |
- |
1 |
16-2092963-G-C |
c.11147C>G |
p.A3716G |
Missense |
38/46 |
- |
1 |
16-2092966-AG-A |
c.11143del |
p.L3715Wfs*111 |
Frameshift |
38/46 |
- |
1 |
16-2092975-C-G |
c.11135G>C |
p.R3712P |
Missense |
38/46 |
- |
1 |
16-2092975-C-T |
c.11135G>A |
p.R3712Q |
Missense |
38/46 |
- |
1 |
16-2092976-G-A |
c.11134C>T |
p.R3712W |
Missense |
38/46 |
- |
2 |
16-2092975-CG-C |
c.11134del |
p.R3712Gfs*114 |
Frameshift |
38/46 |
- |
2 |
16-2092982-G-T |
c.11128C>A |
p.H3710N |
Missense |
38/46 |
- |
1 |
16-2092983-C-A |
c.11127G>T |
p.L3709= |
Synonymous |
38/46 |
- |
1 |
16-2092983-C-G |
c.11127G>C |
p.L3709= |
Synonymous |
38/46 |
- |
1 |
16-2092983-C-T |
c.11127G>A |
p.L3709= |
Synonymous |
38/46 |
- |
1 |
16-2092985-G-A |
c.11125C>T |
p.L3709= |
Synonymous |
38/46 |
- |
1 |
16-2092995-G-A |
c.11115C>T |
p.I3705= |
Synonymous |
38/46 |
- |
2 |
16-2092995-G-T |
c.11115C>A |
p.I3705= |
Synonymous |
38/46 |
- |
2 |
16-2092997-T-A |
c.11113A>T |
p.I3705F |
Missense |
38/46 |
- |
2 |
16-2092997-T-C |
c.11113A>G |
p.I3705V |
Missense |
38/46 |
- |
2 |
16-2093000-C-T |
c.11110G>A |
p.A3704T |
Missense |
38/46 |
- |
3 |
16-2093002-C-G |
c.11108G>C |
p.S3703T |
Missense |
38/46 |
- |
1 |
16-2093004-TTGCAGACGG-T |
c.11097_11105del |
p.Y3699_Q3702delins* |
MultiAAMissense |
38/46 |
- |
1 |
16-2093006-G-A |
c.11104C>T |
p.Q3702* |
Nonsense |
38/46 |
- |
1 |
16-2093009-G-A |
c.11101C>T |
p.L3701= |
Synonymous |
38/46 |
- |
1 |
16-2093011-C-A |
c.11099G>T |
p.R3700L |
Missense |
38/46 |
- |
2 |
16-2093011-C-T |
c.11099G>A |
p.R3700H |
Missense |
38/46 |
- |
1 |
16-2093012-G-A |
c.11098C>T |
p.R3700C |
Missense |
38/46 |
- |
1 |
16-2093013-G-A |
c.11097C>T |
p.Y3699= |
Synonymous |
38/46 |
- |
1 |
16-2093014-T-C |
c.11096A>G |
p.Y3699C |
Missense |
38/46 |
- |
1 |
16-2093016-G-C |
c.11094C>G |
p.A3698= |
Synonymous |
38/46 |
- |
1 |
16-2093018-C-A |
c.11092G>T |
p.A3698S |
Missense |
38/46 |
- |
2 |
16-2093019-G-A |
c.11091C>T |
p.H3697= |
Synonymous |
38/46 |
- |
2 |
16-2093019-G-GT |
c.11090dup |
p.H3697Qfs*25 |
Frameshift |
38/46 |
- |
1 |
16-2093021-G-A |
c.11089C>T |
p.H3697Y |
Missense |
38/46 |
- |
1 |
16-2093021-TGCCCA-T |
c.11085_11089del |
p.H3695Qfs*25 |
Frameshift |
38/46 |
- |
1 |
16-2093026-T-C |
c.11084A>G |
p.H3695R |
Missense |
38/46 |
- |
1 |
16-2093028-G-C |
c.11082C>G |
p.C3694W |
Missense |
38/46 |
- |
1 |
16-2093030-A-G |
c.11080T>C |
p.C3694R |
Missense |
38/46 |
- |
1 |
16-2093032-G-A |
c.11078C>T |
p.S3693L |
Missense |
38/46 |
- |
3 |
16-2093033-A-G |
c.11077T>C |
p.S3693P |
Missense |
38/46 |
- |
1 |
16-2093044-T-G |
c.11066A>C |
p.Y3689S |
Missense |
38/46 |
- |
1 |
16-2093052-C-T |
c.11058G>A |
p.L3686= |
Synonymous |
38/46 |
- |
1 |
16-2093062-AC-TA |
c.11047_11048delinsTA |
p.V3683* |
Nonsense |
38/46 |
- |
1 |
16-2093065-A-G |
c.11045T>C |
p.L3682P |
Missense |
38/46 |
- |
1 |
16-2093065-A-T |
c.11045T>A |
p.L3682Q |
Missense |
38/46 |
- |
1 |
16-2093075-G-A |
c.11035C>T |
p.L3679F |
Missense |
38/46 |
- |
1 |
16-2093075-G-C |
c.11035C>G |
p.L3679V |
Missense |
38/46 |
- |
1 |
16-2093077-A-G |
c.11033T>C |
p.M3678T |
Missense |
38/46 |
- |
1 |
16-2093083-A-C |
c.11027T>G |
p.V3676G |
Missense |
38/46 |
- |
1 |
16-2093084-C-A |
c.11026G>T |
p.V3676L |
Missense |
38/46 |
- |
1 |
16-2093084-C-G |
c.11026G>C |
p.V3676L |
Missense |
38/46 |
- |
1 |
16-2093091-G-T |
c.11019C>A |
p.S3673R |
Missense |
38/46 |
- |
1 |
16-2093469-T-C |
c.11016+75A>G |
- |
IntronicSNV |
- |
37/45 |
1 |
16-2093507-C-T |
c.11016+37G>A |
- |
IntronicSNV |
- |
37/45 |
1 |
16-2093544-C-G |
c.11016G>C |
p.R3672= |
Synonymous |
37/46 |
- |
1 |
16-2093545-C-T |
c.11015G>A |
p.R3672Q |
Missense |
37/46 |
- |
5 |
16-2093545-C-CG |
c.11014dup |
p.R3672Pfs*50 |
SpliceDonorInsertion |
37/46 |
- |
1 |
16-2093546-G-A |
c.11014C>T |
p.R3672W |
Missense |
37/46 |
- |
2 |
16-2093549-G-A |
c.11011C>T |
p.L3671= |
Synonymous |
37/46 |
- |
1 |
16-2093551-A-T |
c.11009T>A |
p.M3670K |
Missense |
37/46 |
- |
1 |
16-2093553-G-A |
c.11007C>T |
p.G3669= |
Synonymous |
37/46 |
- |
1 |
16-2093557-T-G |
c.11003A>C |
p.H3668P |
Missense |
37/46 |
- |
1 |
16-2093558-G-A |
c.11002C>T |
p.H3668Y |
Missense |
37/46 |
- |
1 |
16-2093562-C-A |
c.10998G>T |
p.R3666S |
Missense |
37/46 |
- |
1 |
16-2093568-G-A |
c.10992C>T |
p.V3664= |
Synonymous |
37/46 |
- |
1 |
16-2093568-G-C |
c.10992C>G |
p.V3664= |
Synonymous |
37/46 |
- |
1 |
16-2093568-G-T |
c.10992C>A |
p.V3664= |
Synonymous |
37/46 |
- |
1 |
16-2093571-CT-C |
c.10988del |
p.K3663Rfs*21 |
Frameshift |
37/46 |
- |
1 |
16-2093575-C-A |
c.10985G>T |
p.R3662L |
Missense |
37/46 |
- |
1 |
16-2093578-GGCT-G |
c.10980_10982del |
p.E3660_A3661delinsD |
MultiAAMissense |
37/46 |
- |
1 |
16-2093582-CT-C |
c.10977del |
p.E3660Kfs*24 |
Frameshift |
37/46 |
- |
1 |
16-2093584-TC-T |
c.10975del |
p.E3659Kfs*25 |
Frameshift |
37/46 |
- |
1 |
16-2093586-C-A |
c.10974G>T |
p.K3658N |
Missense |
37/46 |
- |
1 |
16-2093587-T-C |
c.10973A>G |
p.K3658R |
Missense |
37/46 |
- |
2 |
16-2093592-C-A |
c.10968G>T |
p.L3656= |
Synonymous |
37/46 |
- |
1 |
16-2093592-C-G |
c.10968G>C |
p.L3656= |
Synonymous |
37/46 |
- |
1 |
16-2093592-C-T |
c.10968G>A |
p.L3656= |
Synonymous |
37/46 |
- |
1 |
16-2093594-G-A |
c.10966C>T |
p.L3656= |
Synonymous |
37/46 |
- |
1 |
16-2093593-CA-C |
c.10967del |
p.L3656Rfs*28 |
Frameshift |
37/46 |
- |
1 |
16-2093593-AG-A |
c.10966del |
p.L3656Wfs*28 |
Frameshift |
37/46 |
- |
2 |
16-2093595-G-A |
c.10965C>T |
p.F3655= |
Synonymous |
37/46 |
- |
1 |
16-2093596-A-G |
c.10964T>C |
p.F3655S |
Missense |
37/46 |
- |
1 |
16-2093598-G-A |
c.10962C>T |
p.L3654= |
Synonymous |
37/46 |
- |
2 |
16-2093599-A-T |
c.10961T>A |
p.L3654H |
Missense |
37/46 |
- |
1 |
16-2093600-G-C |
c.10960C>G |
p.L3654V |
Missense |
37/46 |
- |
2 |
16-2093606-AGCCGTGGG-A |
c.10946_10953del |
p.P3649Lfs*70 |
Frameshift |
37/46 |
- |
1 |
16-2093609-C-A |
c.10951G>T |
p.G3651C |
Missense |
37/46 |
- |
1 |
16-2093609-C-T |
c.10951G>A |
p.G3651S |
Missense |
37/46 |
- |
6 |
16-2093610-G-A |
c.10950C>T |
p.H3650= |
Synonymous |
37/46 |
- |
2 |
16-2093612-G-A |
c.10948C>T |
p.H3650Y |
Missense |
37/46 |
- |
2 |
16-2093613-G-A |
c.10947C>T |
p.P3649= |
Synonymous |
37/46 |
- |
1 |
16-2093614-G-A |
c.10946C>T |
p.P3649L |
Missense |
37/46 |
- |
1 |
16-2093611-TG-T |
c.10948del |
p.H3650Tfs*34 |
Frameshift |
37/46 |
- |
2 |
16-2093618-G-T |
c.10942C>A |
p.P3648T |
Missense |
37/46 |
- |
1 |
16-2093619-C-T |
c.10941G>A |
p.R3647= |
Synonymous |
37/46 |
- |
1 |
16-2093620-C-T |
c.10940G>A |
p.R3647Q |
Missense |
37/46 |
- |
1 |
16-2093621-G-A |
c.10939C>T |
p.R3647W |
Missense |
37/46 |
- |
3 |
16-2093623-A-C |
c.10937T>G |
p.V3646G |
Missense |
37/46 |
- |
1 |
16-2093624-C-T |
c.10936G>A |
p.V3646I |
Missense |
37/46 |
- |
1 |
16-2093626-C-A |
c.10934G>T |
p.R3645L |
Missense |
37/46 |
- |
1 |
16-2093627-G-A |
c.10933C>T |
p.R3645C |
Missense |
37/46 |
- |
2 |
16-2093628-G-A |
c.10932C>T |
p.P3644= |
Synonymous |
37/46 |
- |
1 |
16-2093626-CG-C |
c.10933del |
p.R3645Afs*39 |
Frameshift |
37/46 |
- |
2 |
16-2093634-A-C |
c.10926T>G |
p.R3642= |
Synonymous |
37/46 |
- |
1 |
16-2093634-A-G |
c.10926T>C |
p.R3642= |
Synonymous |
37/46 |
- |
1 |
16-2093634-A-T |
c.10926T>A |
p.R3642= |
Synonymous |
37/46 |
- |
1 |
16-2093636-G-A |
c.10924C>T |
p.R3642C |
Missense |
37/46 |
- |
2 |
16-2093637-T-TG |
c.10922dup |
p.R3642Tfs*80 |
Frameshift |
37/46 |
- |
1 |
16-2093638-G-A |
c.10922C>T |
p.A3641V |
Missense |
37/46 |
- |
1 |
16-2093639-C-T |
c.10921G>A |
p.A3641T |
Missense |
37/46 |
- |
3 |
16-2093640-G-A |
c.10920C>T |
p.S3640= |
Synonymous |
37/46 |
- |
1 |
16-2093645-C-T |
c.10915G>A |
p.V3639M |
Missense |
37/46 |
- |
1 |
16-2093647-G-A |
c.10913C>T |
p.P3638L |
Missense |
37/46 |
- |
1 |
16-2093656-G-T |
c.10904C>A |
p.A3635D |
Missense |
37/46 |
- |
2 |
16-2093657-C-T |
c.10903G>A |
p.A3635T |
Missense |
37/46 |
- |
1 |
16-2093659-G-A |
c.10901C>T |
p.P3634L |
Missense |
37/46 |
- |
2 |
16-2093659-G-T |
c.10901C>A |
p.P3634Q |
Missense |
37/46 |
- |
1 |
16-2093664-C-A |
c.10896G>T |
p.E3632D |
Missense |
37/46 |
- |
1 |
16-2093664-C-G |
c.10896G>C |
p.E3632D |
Missense |
37/46 |
- |
1 |
16-2093661-GCT-G |
c.10897_10898del |
p.S3633Pfs*88 |
Frameshift |
37/46 |
- |
1 |
16-2093666-C-G |
c.10894G>C |
p.E3632Q |
Missense |
37/46 |
- |
1 |
16-2093666-C-T |
c.10894G>A |
p.E3632K |
Missense |
37/46 |
- |
2 |
16-2093669-C-T |
c.10891G>A |
p.V3631I |
Missense |
37/46 |
- |
1 |
16-2093670-C-A |
c.10890G>T |
p.L3630= |
Synonymous |
37/46 |
- |
1 |
16-2093670-C-G |
c.10890G>C |
p.L3630= |
Synonymous |
37/46 |
- |
1 |
16-2093670-C-T |
c.10890G>A |
p.L3630= |
Synonymous |
37/46 |
- |
1 |
16-2093672-G-A |
c.10888C>T |
p.L3630= |
Synonymous |
37/46 |
- |
1 |
16-2093674-G-A |
c.10886C>T |
p.T3629I |
Missense |
37/46 |
- |
2 |
16-2093675-GT-G |
c.10885del |
p.T3629Pfs*3 |
Frameshift |
37/46 |
- |
1 |
16-2093677-T-C |
c.10883A>G |
p.D3628G |
Missense |
37/46 |
- |
1 |
16-2093678-C-A |
c.10882G>T |
p.D3628Y |
Missense |
37/46 |
- |
1 |
16-2093681-C-G |
c.10879G>C |
p.D3627H |
Missense |
37/46 |
- |
1 |
16-2093684-C-T |
c.10876G>A |
p.E3626K |
Missense |
37/46 |
- |
1 |
16-2093683-TCATC-T |
c.10873_10876del |
p.D3625Kfs*6 |
Frameshift |
37/46 |
- |
1 |
16-2093687-C-T |
c.10873G>A |
p.D3625N |
Missense |
37/46 |
- |
3 |
16-2093688-C-T |
c.10872G>A |
p.P3624= |
Synonymous |
37/46 |
- |
1 |
16-2093700-C-CT |
c.10859dup |
p.R3621Afs*6 |
Frameshift |
37/46 |
- |
1 |
16-2093704-G-A |
c.10856C>T |
p.A3619V |
Missense |
37/46 |
- |
1 |
16-2093707-A-G |
c.10853T>C |
p.V3618A |
Missense |
37/46 |
- |
1 |
16-2093710-A-G |
c.10850T>C |
p.L3617P |
Missense |
37/46 |
- |
1 |
16-2093713-G-A |
c.10847C>T |
p.S3616L |
Missense |
37/46 |
- |
1 |
16-2093713-G-T |
c.10847C>A |
p.S3616* |
Nonsense |
37/46 |
- |
1 |
16-2093714-A-C |
c.10846T>G |
p.S3616A |
Missense |
37/46 |
- |
1 |
16-2093722-A-G |
c.10838T>C |
p.L3613P |
Missense |
37/46 |
- |
2 |
16-2093729-C-T |
c.10831G>A |
p.E3611K |
Missense |
37/46 |
- |
1 |
16-2093731-A-G |
c.10829T>C |
p.L3610P |
Missense |
37/46 |
- |
1 |
16-2093733-C-A |
c.10827G>T |
p.L3609F |
Missense |
37/46 |
- |
1 |
16-2093733-C-G |
c.10827G>C |
p.L3609F |
Missense |
37/46 |
- |
1 |
16-2093746-G-A |
c.10822-8C>T |
- |
IntronicSNV |
- |
36/45 |
1 |
16-2093746-G-C |
c.10822-8C>G |
- |
IntronicSNV |
- |
36/45 |
1 |
16-2093752-G-A |
c.10822-14C>T |
- |
IntronicSNV |
- |
36/45 |
2 |
16-2093780-G-A |
c.10821+31C>T |
- |
IntronicSNV |
- |
36/45 |
1 |
16-2093807-T-C |
c.10821+4A>G |
- |
IntronicSNV |
- |
36/45 |
1 |
16-2093810-C-G |
c.10821+1G>C |
- |
IntronicSNV |
- |
36/45 |
1 |
16-2093810-C-T |
c.10821+1G>A |
- |
IntronicSNV |
- |
36/45 |
1 |
16-2093812-T-A |
c.10820A>T |
p.K3607M |
Missense |
36/46 |
- |
1 |
16-2093816-G-T |
c.10816C>A |
p.L3606M |
Missense |
36/46 |
- |
1 |
16-2093822-C-T |
c.10810G>A |
p.E3604K |
Missense |
36/46 |
- |
3 |
16-2093823-C-T |
c.10809G>A |
p.W3603* |
Nonsense |
36/46 |
- |
4 |
16-2093824-C-T |
c.10808G>A |
p.W3603* |
Nonsense |
36/46 |
- |
4 |
16-2093825-A-G |
c.10807T>C |
p.W3603R |
Missense |
36/46 |
- |
1 |
16-2093825-A-T |
c.10807T>A |
p.W3603R |
Missense |
36/46 |
- |
1 |
16-2093828-C-G |
c.10804G>C |
p.G3602R |
Missense |
36/46 |
- |
2 |
16-2093828-C-T |
c.10804G>A |
p.G3602S |
Missense |
36/46 |
- |
3 |
16-2093831-G-A |
c.10801C>T |
p.L3601F |
Missense |
36/46 |
- |
1 |
16-2093831-GGAAT-G |
c.10797_10800del |
p.F3600Sfs*6 |
Frameshift |
36/46 |
- |
1 |
16-2093836-G-A |
c.10796C>T |
p.S3599L |
Missense |
36/46 |
- |
1 |
16-2093851-G-A |
c.10781C>T |
p.A3594V |
Missense |
36/46 |
- |
1 |
16-2093852-C-T |
c.10780G>A |
p.A3594T |
Missense |
36/46 |
- |
1 |
16-2093853-G-A |
c.10779C>T |
p.S3593= |
Synonymous |
36/46 |
- |
1 |
16-2093853-G-C |
c.10779C>G |
p.S3593R |
Missense |
36/46 |
- |
1 |
16-2093857-C-A |
c.10775G>T |
p.S3592I |
Missense |
36/46 |
- |
7 |
16-2093860-G-A |
c.10772C>T |
p.S3591F |
Missense |
36/46 |
- |
1 |
16-2093864-G-A |
c.10768C>T |
p.L3590= |
Synonymous |
36/46 |
- |
6 |
16-2093864-G-T |
c.10768C>A |
p.L3590M |
Missense |
36/46 |
- |
1 |
16-2093865-G-A |
c.10767C>T |
p.L3589= |
Synonymous |
36/46 |
- |
1 |
16-2093865-G-C |
c.10767C>G |
p.L3589= |
Synonymous |
36/46 |
- |
1 |
16-2093865-G-T |
c.10767C>A |
p.L3589= |
Synonymous |
36/46 |
- |
1 |
16-2093868-C-T |
c.10764G>A |
p.W3588* |
Nonsense |
36/46 |
- |
1 |
16-2093871-C-T |
c.10761G>A |
p.A3587= |
Synonymous |
36/46 |
- |
1 |
16-2093872-G-A |
c.10760C>T |
p.A3587V |
Missense |
36/46 |
- |
1 |
16-2093873-GC-G |
c.10759del |
p.A3587Rfs*20 |
Frameshift |
36/46 |
- |
1 |
16-2093876-C-T |
c.10756G>A |
p.V3586I |
Missense |
36/46 |
- |
1 |
16-2093874-AAC-A |
c.10756_10757del |
p.V3586Cfs*40 |
Frameshift |
36/46 |
- |
1 |
16-2093878-CT-GC |
c.10753_10754delinsGC |
p.S3585A |
Missense |
36/46 |
- |
1 |
16-2093883-G-A |
c.10749C>T |
p.G3583= |
Synonymous |
36/46 |
- |
4 |
16-2093883-G-C |
c.10749C>G |
p.G3583= |
Synonymous |
36/46 |
- |
1 |
16-2093883-G-T |
c.10749C>A |
p.G3583= |
Synonymous |
36/46 |
- |
1 |
16-2093885-C-T |
c.10747G>A |
p.G3583S |
Missense |
36/46 |
- |
5 |
16-2093883-GC-G |
c.10748del |
p.G3583Afs*2 |
Frameshift |
36/46 |
- |
1 |
16-2093888-G-C |
c.10744C>G |
p.P3582A |
Missense |
36/46 |
- |
1 |
16-2093886-C-CG |
c.10745dup |
p.V3584Rfs*43 |
Frameshift |
36/46 |
- |
2 |
16-2093886-CG-C |
c.10745del |
p.P3582Rfs*3 |
Frameshift |
36/46 |
- |
5 |
16-2093894-A-C |
c.10738T>G |
p.F3580V |
Missense |
36/46 |
- |
1 |
16-2093899-G-A |
c.10733C>T |
p.A3578V |
Missense |
36/46 |
- |
1 |
16-2093900-C-T |
c.10732G>A |
p.A3578T |
Missense |
36/46 |
- |
1 |
16-2093905-A-C |
c.10727T>G |
p.V3576G |
Missense |
36/46 |
- |
1 |
16-2093908-C-T |
c.10724G>A |
p.W3575* |
Nonsense |
36/46 |
- |
1 |
16-2093911-C-CCCCT |
c.10720_10721insAGGG |
p.G3574Efs*54 |
Frameshift |
36/46 |
- |
1 |
16-2093912-CCT-C |
c.10719_10720del |
p.G3574Vfs*52 |
Frameshift |
36/46 |
- |
1 |
16-2093916-GAC-TTG |
c.10714_10716delinsCAA |
p.V3572Q |
Missense |
36/46 |
- |
1 |
16-2093914-GAGAC-G |
c.10714_10717del |
p.V3572Qfs*12 |
Frameshift |
36/46 |
- |
1 |
16-2093917-ACAG-A |
c.10712_10714del |
p.A3571del |
InFrameDeletion |
36/46 |
- |
1 |
16-2093920-GC-G |
c.10711del |
p.A3571Lfs*14 |
Frameshift |
36/46 |
- |
1 |
16-2093916-GACAGCC-G |
c.10710_10715del |
p.A3571_V3572del |
InFrameDeletion |
36/46 |
- |
3 |
16-2093933-C-A |
c.10699G>T |
p.A3567S |
Missense |
36/46 |
- |
2 |
16-2093934-CAC-GAT |
c.10696_10698delinsATC |
p.V3566I |
Missense |
36/46 |
- |
1 |
16-2093942-G-A |
c.10690C>T |
p.L3564F |
Missense |
36/46 |
- |
2 |
16-2093943-CAG-AAA |
c.10687_10689delinsTTT |
p.L3563F |
Missense |
36/46 |
- |
1 |
16-2093945-G-A |
c.10687C>T |
p.L3563= |
Synonymous |
36/46 |
- |
2 |
16-2093947-C-T |
c.10685G>A |
p.S3562N |
Missense |
36/46 |
- |
2 |
16-2093953-C-A |
c.10679G>T |
p.G3560V |
Missense |
36/46 |
- |
3 |
16-2093954-C-G |
c.10678G>C |
p.G3560R |
Missense |
36/46 |
- |
3 |
16-2093954-C-T |
c.10678G>A |
p.G3560R |
Missense |
36/46 |
- |
11 |
16-2093956-T-G |
c.10676A>C |
p.H3559P |
Missense |
36/46 |
- |
1 |
16-2093958-G-A |
c.10674C>T |
p.A3558= |
Synonymous |
36/46 |
- |
1 |
16-2093973-C-A |
c.10659G>T |
p.W3553C |
Missense |
36/46 |
- |
1 |
16-2093973-C-G |
c.10659G>C |
p.W3553C |
Missense |
36/46 |
- |
1 |
16-2093972-AC-A |
c.10659del |
p.W3553Cfs*32 |
Frameshift |
36/46 |
- |
1 |
16-2093974-C-T |
c.10658G>A |
p.W3553* |
Nonsense |
36/46 |
- |
1 |
16-2093976-G-A |
c.10656C>T |
p.A3552= |
Synonymous |
36/46 |
- |
1 |
16-2093976-G-C |
c.10656C>G |
p.A3552= |
Synonymous |
36/46 |
- |
1 |
16-2093976-G-T |
c.10656C>A |
p.A3552= |
Synonymous |
36/46 |
- |
1 |
16-2093977-G-A |
c.10655C>T |
p.A3552V |
Missense |
36/46 |
- |
1 |
16-2093978-C-A |
c.10654G>T |
p.A3552S |
Missense |
36/46 |
- |
1 |
16-2093980-G-A |
c.10652C>T |
p.P3551L |
Missense |
36/46 |
- |
1 |
16-2093979-C-CG |
c.10652dup |
p.A3552Gfs*75 |
Frameshift |
36/46 |
- |
1 |
16-2093981-G-A |
c.10651C>T |
p.P3551S |
Missense |
36/46 |
- |
1 |
16-2093989-C-T |
c.10643G>A |
p.R3548H |
Missense |
36/46 |
- |
1 |
16-2093990-G-C |
c.10642C>G |
p.R3548G |
Missense |
36/46 |
- |
1 |
16-2093990-G-T |
c.10642C>A |
p.R3548S |
Missense |
36/46 |
- |
1 |
16-2093995-C-T |
c.10637G>A |
p.R3546Q |
Missense |
36/46 |
- |
1 |
16-2094013-C-G |
c.10619G>C |
p.G3540A |
Missense |
36/46 |
- |
1 |
16-2094073-CGGG-C |
c.10618+16_10618+18del |
- |
IntronicDeletion |
- |
35/45 |
1 |
16-2094091-C-T |
c.10618+1G>A |
- |
IntronicSNV |
- |
35/45 |
1 |
16-2094090-AC-A |
c.10618+1del |
- |
IntronicDeletion |
35/46 |
- |
1 |
16-2094092-C-A |
c.10618G>T |
p.G3540* |
Nonsense |
35/46 |
- |
1 |
16-2094092-C-CA |
c.10617_10618insT |
p.G3540Wfs*87 |
SpliceDonorInsertion |
35/46 |
- |
1 |
16-2094092-C-CG |
c.10617_10618insC |
p.G3540Rfs*87 |
SpliceDonorInsertion |
35/46 |
- |
1 |
16-2094092-C-CT |
c.10617dup |
p.G3540Rfs*87 |
SpliceDonorInsertion |
35/46 |
- |
1 |
16-2094094-G-A |
c.10616C>T |
p.T3539I |
Missense |
35/46 |
- |
1 |
16-2094099-G-A |
c.10611C>T |
p.S3537= |
Synonymous |
35/46 |
- |
3 |
16-2094099-G-C |
c.10611C>G |
p.S3537= |
Synonymous |
35/46 |
- |
2 |
16-2094099-G-T |
c.10611C>A |
p.S3537= |
Synonymous |
35/46 |
- |
2 |
16-2094102-C-A |
c.10608G>T |
p.L3536= |
Synonymous |
35/46 |
- |
1 |
16-2094102-C-G |
c.10608G>C |
p.L3536= |
Synonymous |
35/46 |
- |
1 |
16-2094102-C-T |
c.10608G>A |
p.L3536= |
Synonymous |
35/46 |
- |
1 |
16-2094104-G-A |
c.10606C>T |
p.L3536= |
Synonymous |
35/46 |
- |
1 |
16-2094108-C-A |
c.10602G>T |
p.A3534= |
Synonymous |
35/46 |
- |
2 |
16-2094108-C-G |
c.10602G>C |
p.A3534= |
Synonymous |
35/46 |
- |
2 |
16-2094108-C-T |
c.10602G>A |
p.A3534= |
Synonymous |
35/46 |
- |
2 |
16-2094109-G-A |
c.10601C>T |
p.A3534V |
Missense |
35/46 |
- |
1 |
16-2094111-T-A |
c.10599A>T |
p.A3533= |
Synonymous |
35/46 |
- |
1 |
16-2094111-T-C |
c.10599A>G |
p.A3533= |
Synonymous |
35/46 |
- |
1 |
16-2094111-T-G |
c.10599A>C |
p.A3533= |
Synonymous |
35/46 |
- |
1 |
16-2094112-G-A |
c.10598C>T |
p.A3533V |
Missense |
35/46 |
- |
1 |
16-2094112-G-C |
c.10598C>G |
p.A3533G |
Missense |
35/46 |
- |
1 |
16-2094121-T-G |
c.10589A>C |
p.Q3530P |
Missense |
35/46 |
- |
1 |
16-2094122-G-A |
c.10588C>T |
p.Q3530* |
Nonsense |
35/46 |
- |
2 |
16-2094125-C-A |
c.10585G>T |
p.E3529* |
Nonsense |
35/46 |
- |
1 |
16-2094141-G-GAA |
c.10568_10569insTT |
p.P3524Sfs*4 |
Frameshift |
35/46 |
- |
1 |
16-2094144-TGGGTGGCC-T |
c.10559_10566del |
p.G3520Efs*104 |
Frameshift |
35/46 |
- |
1 |
16-2094146-G-A |
c.10564C>T |
p.P3522S |
Missense |
35/46 |
- |
1 |
16-2094147-T-A |
c.10563A>T |
p.P3521= |
Synonymous |
35/46 |
- |
1 |
16-2094147-T-C |
c.10563A>G |
p.P3521= |
Synonymous |
35/46 |
- |
1 |
16-2094147-T-G |
c.10563A>C |
p.P3521= |
Synonymous |
35/46 |
- |
1 |
16-2094150-CCC-ACA |
c.10558_10560delinsTGT |
p.G3520C |
Missense |
35/46 |
- |
1 |
16-2094149-GCCCCAGCTCC-G |
c.10551_10560del |
p.E3518Hfs*6 |
Frameshift |
35/46 |
- |
1 |
16-2094149-G-GC |
c.10560dup |
p.P3521Afs*106 |
Frameshift |
35/46 |
- |
1 |
16-2094158-C-A |
c.10552G>T |
p.E3518* |
Nonsense |
35/46 |
- |
1 |
16-2094167-T-A |
c.10543A>T |
p.R3515W |
Missense |
35/46 |
- |
2 |
16-2094170-G-A |
c.10540C>T |
p.Q3514* |
Nonsense |
35/46 |
- |
2 |
16-2094173-G-C |
c.10537C>G |
p.L3513V |
Missense |
35/46 |
- |
1 |
16-2094174-C-A |
c.10536G>T |
p.A3512= |
Synonymous |
35/46 |
- |
1 |
16-2094174-C-G |
c.10536G>C |
p.A3512= |
Synonymous |
35/46 |
- |
1 |
16-2094174-C-T |
c.10536G>A |
p.A3512= |
Synonymous |
35/46 |
- |
1 |
16-2094175-G-A |
c.10535C>T |
p.A3512V |
Missense |
35/46 |
- |
25 |
16-2094178-A-G |
c.10532T>C |
p.L3511P |
Missense |
35/46 |
- |
1 |
16-2094179-G-A |
c.10531C>T |
p.L3511= |
Synonymous |
35/46 |
- |
1 |
16-2094179-G-C |
c.10531C>G |
p.L3511V |
Missense |
35/46 |
- |
8 |
16-2094180-C-A |
c.10530G>T |
p.T3510= |
Synonymous |
35/46 |
- |
1 |
16-2094180-C-G |
c.10530G>C |
p.T3510= |
Synonymous |
35/46 |
- |
1 |
16-2094180-C-T |
c.10530G>A |
p.T3510= |
Synonymous |
35/46 |
- |
1 |
16-2094181-G-A |
c.10529C>T |
p.T3510M |
Missense |
35/46 |
- |
22 |
16-2094181-GTC-G |
c.10527_10528del |
p.E3509Dfs*117 |
Frameshift |
35/46 |
- |
3 |
16-2094190-T-C |
c.10520A>G |
p.K3507R |
Missense |
35/46 |
- |
1 |
16-2094197-C-A |
c.10513G>T |
p.G3505W |
Missense |
35/46 |
- |
1 |
16-2094206-T-C |
c.10504A>G |
p.S3502G |
Missense |
35/46 |
- |
1 |
16-2094284-G-A |
c.10500-74C>T |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2094298-T-G |
c.10500-88A>C |
- |
IntronicSNV |
- |
34/45 |
3 |
16-2095105-A-T |
c.10500-895T>A |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2095128-G-T |
c.10500-918C>A |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2095372-G-A |
c.10500-1162C>T |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2095786-A-C |
c.10499+1362T>G |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2096287-C-T |
c.10499+861G>A |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2096705-C-A |
c.10499+443G>T |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2096705-C-T |
c.10499+443G>A |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2097054-ACCCCACCCTACCCCAGGCGGGAACCACGGCTGCCTGGCCTGAGTCCCGGCCCCTCCTCT-A |
c.10499+36_10499+94del |
- |
Unclassified |
- |
34/45 |
1 |
16-2097080-C-T |
c.10499+68G>A |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2097142-A-C |
c.10499+6T>G |
- |
IntronicSNV |
- |
34/45 |
1 |
16-2097149-G-GA |
c.10497_10498insT |
p.L3500Sfs*127 |
SpliceDonorInsertion |
34/46 |
- |
1 |
16-2097149-G-GC |
c.10497_10498insG |
p.L3500Afs*127 |
SpliceDonorInsertion |
34/46 |
- |
1 |
16-2097149-G-GT |
c.10497_10498insA |
p.L3500Tfs*127 |
SpliceDonorInsertion |
34/46 |
- |
1 |
16-2097148-A-AG |
c.10498dup |
p.L3500Pfs*127 |
SpliceDonorInsertion |
34/46 |
- |
1 |
16-2097158-G-A |
c.10489C>T |
p.L3497F |
Missense |
34/46 |
- |
1 |
16-2097159-C-T |
c.10488G>A |
p.L3496= |
Synonymous |
34/46 |
- |
1 |
16-2097161-G-C |
c.10486C>G |
p.L3496V |
Missense |
34/46 |
- |
1 |
16-2097162-G-A |
c.10485C>T |
p.D3495= |
Synonymous |
34/46 |
- |
1 |
16-2097166-G-A |
c.10481C>T |
p.T3494M |
Missense |
34/46 |
- |
1 |
16-2097176-G-C |
c.10471C>G |
p.H3491D |
Missense |
34/46 |
- |
1 |
16-2097178-G-C |
c.10469C>G |
p.T3490S |
Missense |
34/46 |
- |
1 |
16-2097179-T-A |
c.10468A>T |
p.T3490S |
Missense |
34/46 |
- |
1 |
16-2097179-T-C |
c.10468A>G |
p.T3490A |
Missense |
34/46 |
- |
1 |
16-2097185-G-A |
c.10462C>T |
p.Q3488* |
Nonsense |
34/46 |
- |
2 |
16-2097186-G-A |
c.10461C>T |
p.T3487= |
Synonymous |
34/46 |
- |
2 |
16-2097186-G-C |
c.10461C>G |
p.T3487= |
Synonymous |
34/46 |
- |
1 |
16-2097186-G-T |
c.10461C>A |
p.T3487= |
Synonymous |
34/46 |
- |
1 |
16-2097190-G-T |
c.10457C>A |
p.P3486H |
Missense |
34/46 |
- |
1 |
16-2097197-G-C |
c.10450C>G |
p.P3484A |
Missense |
34/46 |
- |
1 |
16-2097200-T-G |
c.10447A>C |
p.S3483R |
Missense |
34/46 |
- |
1 |
16-2097207-C-T |
c.10440G>A |
p.G3480= |
Synonymous |
34/46 |
- |
1 |
16-2097205-AC-A |
c.10441del |
p.V3481Sfs*46 |
Frameshift |
34/46 |
- |
1 |
16-2097212-C-T |
c.10435G>A |
p.E3479K |
Missense |
34/46 |
- |
1 |
16-2097215-C-A |
c.10432G>T |
p.A3478S |
Missense |
34/46 |
- |
1 |
16-2097215-C-T |
c.10432G>A |
p.A3478T |
Missense |
34/46 |
- |
1 |
16-2097218-G-C |
c.10429C>G |
p.L3477V |
Missense |
34/46 |
- |
1 |
16-2097219-G-A |
c.10428C>T |
p.V3476= |
Synonymous |
34/46 |
- |
1 |
16-2097219-G-C |
c.10428C>G |
p.V3476= |
Synonymous |
34/46 |
- |
1 |
16-2097219-G-T |
c.10428C>A |
p.V3476= |
Synonymous |
34/46 |
- |
1 |
16-2097221-C-G |
c.10426G>C |
p.V3476L |
Missense |
34/46 |
- |
1 |
16-2097221-C-T |
c.10426G>A |
p.V3476I |
Missense |
34/46 |
- |
1 |
16-2097222-C-G |
c.10425G>C |
p.Q3475H |
Missense |
34/46 |
- |
1 |
16-2097224-G-A |
c.10423C>T |
p.Q3475* |
Nonsense |
34/46 |
- |
2 |
16-2097226-T-A |
c.10421A>T |
p.Q3474L |
Missense |
34/46 |
- |
1 |
16-2097227-G-A |
c.10420C>T |
p.Q3474* |
Nonsense |
34/46 |
- |
3 |
16-2097227-G-C |
c.10420C>G |
p.Q3474E |
Missense |
34/46 |
- |
1 |
16-2097226-TG-T |
c.10420del |
p.Q3474Sfs*53 |
Frameshift |
34/46 |
- |
1 |
16-2097228-G-A |
c.10419C>T |
p.I3473= |
Synonymous |
34/46 |
- |
2 |
16-2097238-T-A |
c.10409A>T |
p.E3470V |
Missense |
34/46 |
- |
1 |
16-2097240-A-AC |
c.10406_10407insG |
p.D3469Efs*2 |
SpliceAcceptorInsertion |
34/46 |
- |
1 |
16-2097241-T-C |
c.10406A>G |
p.D3469G |
Missense |
34/46 |
- |
1 |
16-2097245-G-A |
c.10406-4C>T |
- |
IntronicSNV |
- |
33/45 |
1 |
16-2097245-G-C |
c.10406-4C>G |
- |
IntronicSNV |
- |
33/45 |
1 |
16-2097319-C-A |
c.10405G>T |
p.D3469Y |
Missense |
33/46 |
- |
1 |
16-2097319-C-T |
c.10405G>A |
p.D3469N |
Missense |
33/46 |
- |
2 |
16-2097321-G-C |
c.10403C>G |
p.S3468* |
Nonsense |
33/46 |
- |
1 |
16-2097326-T-C |
c.10398A>G |
p.S3466= |
Synonymous |
33/46 |
- |
1 |
16-2097327-G-A |
c.10397C>T |
p.S3466L |
Missense |
33/46 |
- |
3 |
16-2097327-G-C |
c.10397C>G |
p.S3466* |
Nonsense |
33/46 |
- |
2 |
16-2097328-A-T |
c.10396T>A |
p.S3466T |
Missense |
33/46 |
- |
3 |
16-2097332-G-A |
c.10392C>T |
p.S3464= |
Synonymous |
33/46 |
- |
1 |
16-2097333-G-A |
c.10391C>T |
p.S3464F |
Missense |
33/46 |
- |
2 |
16-2097339-G-A |
c.10385C>T |
p.A3462V |
Missense |
33/46 |
- |
1 |
16-2097337-TGGCAGGCGAGTAGG-T |
c.10373_10386del |
p.P3458Qfs*8 |
Frameshift |
33/46 |
- |
1 |
16-2097343-G-A |
c.10381C>T |
p.P3461S |
Missense |
33/46 |
- |
1 |
16-2097344-C-A |
c.10380G>T |
p.S3460= |
Synonymous |
33/46 |
- |
2 |
16-2097344-C-G |
c.10380G>C |
p.S3460= |
Synonymous |
33/46 |
- |
1 |
16-2097344-C-T |
c.10380G>A |
p.S3460= |
Synonymous |
33/46 |
- |
3 |
16-2097345-G-A |
c.10379C>T |
p.S3460L |
Missense |
33/46 |
- |
2 |
16-2097351-G-A |
c.10373C>T |
p.P3458L |
Missense |
33/46 |
- |
1 |
16-2097351-G-T |
c.10373C>A |
p.P3458H |
Missense |
33/46 |
- |
2 |
16-2097353-G-A |
c.10371C>T |
p.S3457= |
Synonymous |
33/46 |
- |
1 |
16-2097355-T-TGAG |
c.10368_10369insCTC |
p.A3456_S3457insL |
InFrameInsertion |
33/46 |
- |
1 |
16-2097356-G-A |
c.10368C>T |
p.A3456= |
Synonymous |
33/46 |
- |
4 |
16-2097356-G-C |
c.10368C>G |
p.A3456= |
Synonymous |
33/46 |
- |
1 |
16-2097356-G-T |
c.10368C>A |
p.A3456= |
Synonymous |
33/46 |
- |
1 |
16-2097364-GA-G |
c.10360del |
p.S3454Pfs*19 |
Frameshift |
33/46 |
- |
1 |
16-2097370-C-A |
c.10354G>T |
p.G3452C |
Missense |
33/46 |
- |
1 |
16-2097370-C-T |
c.10354G>A |
p.G3452S |
Missense |
33/46 |
- |
1 |
16-2097373-C-T |
c.10351G>A |
p.D3451N |
Missense |
33/46 |
- |
6 |
16-2097374-C-G |
c.10350G>C |
p.E3450D |
Missense |
33/46 |
- |
1 |
16-2097376-C-A |
c.10348G>T |
p.E3450* |
Nonsense |
33/46 |
- |
2 |
16-2097376-C-T |
c.10348G>A |
p.E3450K |
Missense |
33/46 |
- |
4 |
16-2097379-C-T |
c.10345G>A |
p.E3449K |
Missense |
33/46 |
- |
1 |
16-2097382-G-A |
c.10342C>T |
p.P3448S |
Missense |
33/46 |
- |
1 |
16-2097380-TG-T |
c.10343del |
p.P3448Qfs*25 |
Frameshift |
33/46 |
- |
1 |
16-2097384-C-T |
c.10340G>A |
p.G3447D |
Missense |
33/46 |
- |
1 |
16-2097387-CA-C |
c.10337del |
p.L3446Rfs*27 |
Frameshift |
33/46 |
- |
1 |
16-2097390-C-A |
c.10334G>T |
p.G3445V |
Missense |
33/46 |
- |
1 |
16-2097394-TGGCCCGCCTGG-T |
c.10320_10330del |
p.Q3441Wfs*26 |
Frameshift |
33/46 |
- |
2 |
16-2097395-GCCCGCCTGGCC-G |
c.10318_10328del |
p.G3440Pfs*27 |
Frameshift |
33/46 |
- |
1 |
16-2097398-C-T |
c.10326G>A |
p.A3442= |
Synonymous |
33/46 |
- |
5 |
16-2097399-G-A |
c.10325C>T |
p.A3442V |
Missense |
33/46 |
- |
2 |
16-2097401-C-T |
c.10323G>A |
p.Q3441= |
Synonymous |
33/46 |
- |
1 |
16-2097403-G-A |
c.10321C>T |
p.Q3441* |
Nonsense |
33/46 |
- |
3 |
16-2097404-GC-G |
c.10319del |
p.G3440Afs*33 |
Frameshift |
33/46 |
- |
1 |
16-2097408-C-T |
c.10316G>A |
p.R3439Q |
Missense |
33/46 |
- |
1 |
16-2097409-G-A |
c.10315C>T |
p.R3439W |
Missense |
33/46 |
- |
2 |
16-2097409-G-C |
c.10315C>G |
p.R3439G |
Missense |
33/46 |
- |
2 |
16-2097412-C-T |
c.10312G>A |
p.A3438T |
Missense |
33/46 |
- |
2 |
16-2097414-A-T |
c.10310T>A |
p.L3437Q |
Missense |
33/46 |
- |
1 |
16-2097415-G-T |
c.10309C>A |
p.L3437M |
Missense |
33/46 |
- |
1 |
16-2097416-C-T |
c.10308G>A |
p.Q3436= |
Synonymous |
33/46 |
- |
3 |
16-2097420-C-T |
c.10304G>A |
p.R3435Q |
Missense |
33/46 |
- |
7 |
16-2097421-G-A |
c.10303C>T |
p.R3435W |
Missense |
33/46 |
- |
3 |
16-2097425-A-C |
c.10299T>G |
p.N3433K |
Missense |
33/46 |
- |
1 |
16-2097425-A-T |
c.10299T>A |
p.N3433K |
Missense |
33/46 |
- |
1 |
16-2097431-AC-A |
c.10292del |
p.G3431Vfs*42 |
Frameshift |
33/46 |
- |
1 |
16-2097439-T-G |
c.10285A>C |
p.I3429L |
Missense |
33/46 |
- |
1 |
16-2097443-C-T |
c.10281G>A |
p.P3427= |
Synonymous |
33/46 |
- |
1 |
16-2097460-C-T |
c.10264G>A |
p.D3422N |
Missense |
33/46 |
- |
1 |
16-2097462-G-A |
c.10262C>T |
p.P3421L |
Missense |
33/46 |
- |
1 |
16-2097462-G-C |
c.10262C>G |
p.P3421R |
Missense |
33/46 |
- |
1 |
16-2097464-C-T |
c.10260G>A |
p.W3420* |
Nonsense |
33/46 |
- |
1 |
16-2097465-C-A |
c.10259G>T |
p.W3420L |
Missense |
33/46 |
- |
1 |
16-2097465-C-T |
c.10259G>A |
p.W3420* |
Nonsense |
33/46 |
- |
1 |
16-2097470-G-C |
c.10254C>G |
p.L3418= |
Synonymous |
33/46 |
- |
1 |
16-2097479-C-T |
c.10245G>A |
p.E3415= |
Synonymous |
33/46 |
- |
2 |
16-2097481-C-T |
c.10243G>A |
p.E3415K |
Missense |
33/46 |
- |
2 |
16-2097484-C-T |
c.10240G>A |
p.G3414S |
Missense |
33/46 |
- |
4 |
16-2097485-G-A |
c.10239C>T |
p.S3413= |
Synonymous |
33/46 |
- |
1 |
16-2097486-G-A |
c.10238C>T |
p.S3413F |
Missense |
33/46 |
- |
3 |
16-2097486-GA-CC |
c.10237_10238delinsGG |
p.S3413G |
Missense |
33/46 |
- |
1 |
16-2097490-G-A |
c.10234C>T |
p.P3412S |
Missense |
33/46 |
- |
3 |
16-2097491-C-T |
c.10233G>A |
p.W3411* |
Nonsense |
33/46 |
- |
1 |
16-2097492-C-T |
c.10232G>A |
p.W3411* |
Nonsense |
33/46 |
- |
2 |
16-2097499-C-G |
c.10225G>C |
p.V3409L |
Missense |
33/46 |
- |
2 |
16-2097726-A-C |
c.10220+2T>G |
- |
IntronicSNV |
- |
32/45 |
1 |
16-2097726-A-G |
c.10220+2T>C |
- |
IntronicSNV |
- |
32/45 |
1 |
16-2097727-C-T |
c.10220+1G>A |
- |
IntronicSNV |
- |
32/45 |
2 |
16-2097730-C-A |
c.10218G>T |
p.K3406N |
Missense |
32/46 |
- |
1 |
16-2097730-C-G |
c.10218G>C |
p.K3406N |
Missense |
32/46 |
- |
2 |
16-2097730-C-CT |
c.10217dup |
p.S3407Efs*20 |
Frameshift |
32/46 |
- |
1 |
16-2097732-T-TA |
c.10215dup |
p.K3406* |
Nonsense |
32/46 |
- |
1 |
16-2097734-G-T |
c.10214C>A |
p.S3405Y |
Missense |
32/46 |
- |
1 |
16-2097747-A-T |
c.10201T>A |
p.F3401I |
Missense |
32/46 |
- |
1 |
16-2097752-T-C |
c.10196A>G |
p.D3399G |
Missense |
32/46 |
- |
1 |
16-2097755-C-G |
c.10193G>C |
p.S3398T |
Missense |
32/46 |
- |
1 |
16-2097757-C-A |
c.10191G>T |
p.K3397N |
Missense |
32/46 |
- |
2 |
16-2097757-C-G |
c.10191G>C |
p.K3397N |
Missense |
32/46 |
- |
2 |
16-2097759-T-TC |
c.10188dup |
p.K3397Efs*3 |
Frameshift |
32/46 |
- |
1 |
16-2097762-T-C |
c.10186A>G |
p.M3396V |
Missense |
32/46 |
- |
1 |
16-2097765-G-A |
c.10183C>T |
p.Q3395* |
Nonsense |
32/46 |
- |
2 |
16-2097766-T-A |
c.10182A>T |
p.G3394= |
Synonymous |
32/46 |
- |
1 |
16-2097766-T-C |
c.10182A>G |
p.G3394= |
Synonymous |
32/46 |
- |
1 |
16-2097766-T-G |
c.10182A>C |
p.G3394= |
Synonymous |
32/46 |
- |
1 |
16-2097767-C-A |
c.10181G>T |
p.G3394V |
Missense |
32/46 |
- |
2 |
16-2097779-T-TG |
c.10168dup |
p.Q3390Pfs*10 |
SpliceAcceptorInsertion |
- |
- |
1 |
16-2097780-G-A |
c.10168C>T |
p.Q3390* |
Nonsense |
32/46 |
- |
1 |
16-2097788-G-A |
c.10168-8C>T |
- |
IntronicSNV |
- |
31/45 |
1 |
16-2097841-GC-G |
c.10167+26del |
- |
IntronicDeletion |
- |
31/45 |
1 |
16-2097867-C-T |
c.10167+1G>A |
- |
IntronicSNV |
- |
31/45 |
1 |
16-2097870-C-CA |
c.10164dup |
p.E3389* |
Nonsense |
31/46 |
- |
1 |
16-2097873-C-T |
c.10162G>A |
p.A3388T |
Missense |
31/46 |
- |
1 |
16-2097876-G-A |
c.10159C>T |
p.H3387Y |
Missense |
31/46 |
- |
1 |
16-2097881-C-T |
c.10154G>A |
p.G3385D |
Missense |
31/46 |
- |
1 |
16-2097884-G-C |
c.10151C>G |
p.S3384* |
Nonsense |
31/46 |
- |
1 |
16-2097890-G-A |
c.10145C>T |
p.T3382M |
Missense |
31/46 |
- |
3 |
16-2097894-G-A |
c.10141C>T |
p.L3381F |
Missense |
31/46 |
- |
5 |
16-2097893-AG-A |
c.10141del |
p.L3381Sfs*16 |
Frameshift |
31/46 |
- |
1 |
16-2097898-G-T |
c.10137C>A |
p.S3379= |
Synonymous |
31/46 |
- |
1 |
16-2097899-G-A |
c.10136C>T |
p.S3379F |
Missense |
31/46 |
- |
2 |
16-2097912-C-T |
c.10123G>A |
p.V3375M |
Missense |
31/46 |
- |
2 |
16-2097914-G-A |
c.10121C>T |
p.S3374F |
Missense |
31/46 |
- |
4 |
16-2097922-C-T |
c.10113G>A |
p.L3371= |
Synonymous |
31/46 |
- |
1 |
16-2097923-A-G |
c.10112T>C |
p.L3371P |
Missense |
31/46 |
- |
1 |
16-2097925-G-T |
c.10110C>A |
p.C3370* |
Nonsense |
31/46 |
- |
1 |
16-2097928-G-A |
c.10107C>T |
p.S3369= |
Synonymous |
31/46 |
- |
2 |
16-2097929-C-T |
c.10106G>A |
p.S3369N |
Missense |
31/46 |
- |
1 |
16-2097933-C-T |
c.10102G>A |
p.D3368N |
Missense |
31/46 |
- |
8 |
16-2097934-G-A |
c.10101C>T |
p.I3367= |
Synonymous |
31/46 |
- |
2 |
16-2097934-G-C |
c.10101C>G |
p.I3367M |
Missense |
31/46 |
- |
2 |
16-2097934-G-T |
c.10101C>A |
p.I3367= |
Synonymous |
31/46 |
- |
1 |
16-2097936-T-C |
c.10099A>G |
p.I3367V |
Missense |
31/46 |
- |
2 |
16-2097947-T-A |
c.10088A>T |
p.Q3363L |
Missense |
31/46 |
- |
1 |
16-2097948-G-A |
c.10087C>T |
p.Q3363* |
Nonsense |
31/46 |
- |
4 |
16-2097949-C-A |
c.10086G>T |
p.Q3362H |
Missense |
31/46 |
- |
2 |
16-2097951-G-A |
c.10084C>T |
p.Q3362* |
Nonsense |
31/46 |
- |
2 |
16-2097951-TG-T |
c.10084del |
p.Q3362Sfs*35 |
Frameshift |
31/46 |
- |
1 |
16-2097954-C-T |
c.10081G>A |
p.G3361R |
Missense |
31/46 |
- |
2 |
16-2097955-G-A |
c.10080C>T |
p.A3360= |
Synonymous |
31/46 |
- |
1 |
16-2097955-G-C |
c.10080C>G |
p.A3360= |
Synonymous |
31/46 |
- |
1 |
16-2097955-G-T |
c.10080C>A |
p.A3360= |
Synonymous |
31/46 |
- |
1 |
16-2097960-G-C |
c.10075C>G |
p.P3359A |
Missense |
31/46 |
- |
1 |
16-2097961-TGTG-T |
c.10071_10073del |
p.T3358del |
InFrameDeletion |
31/46 |
- |
1 |
16-2097963-T-G |
c.10072A>C |
p.T3358P |
Missense |
31/46 |
- |
1 |
16-2097970-C-A |
c.10065G>T |
p.P3355= |
Synonymous |
31/46 |
- |
2 |
16-2097971-G-A |
c.10064C>T |
p.P3355L |
Missense |
31/46 |
- |
4 |
16-2097972-G-T |
c.10063C>A |
p.P3355T |
Missense |
31/46 |
- |
5 |
16-2097984-C-T |
c.10051G>A |
p.V3351M |
Missense |
31/46 |
- |
1 |
16-2098009-C-A |
c.10051-25G>T |
- |
IntronicSNV |
- |
30/45 |
2 |
16-2098009-C-T |
c.10051-25G>A |
- |
IntronicSNV |
- |
30/45 |
2 |
16-2098419-A-C |
c.10051-435T>G |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2098853-T-C |
c.10050+791A>G |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2098883-T-C |
c.10050+761A>G |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2098894-A-G |
c.10050+750T>C |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2098980-G-A |
c.10050+664C>T |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2099174-A-G |
c.10050+470T>C |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2099235-T-C |
c.10050+409A>G |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2099301-T-C |
c.10050+343A>G |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2099416-G-A |
c.10050+228C>T |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2099474-T-G |
c.10050+170A>C |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2099582-A-G |
c.10050+62T>C |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2099590-T-C |
c.10050+54A>G |
- |
IntronicSNV |
- |
30/45 |
2 |
16-2099590-T-G |
c.10050+54A>C |
- |
IntronicSNV |
- |
30/45 |
1 |
16-2099646-T-A |
c.10048A>T |
p.K3350* |
Nonsense |
30/46 |
- |
1 |
16-2099648-C-T |
c.10046G>A |
p.S3349N |
Missense |
30/46 |
- |
1 |
16-2099650-C-T |
c.10044G>A |
p.R3348= |
Synonymous |
30/46 |
- |
1 |
16-2099651-C-T |
c.10043G>A |
p.R3348Q |
Missense |
30/46 |
- |
4 |
16-2099652-G-A |
c.10042C>T |
p.R3348W |
Missense |
30/46 |
- |
1 |
16-2099653-G-A |
c.10041C>T |
p.S3347= |
Synonymous |
30/46 |
- |
3 |
16-2099653-G-C |
c.10041C>G |
p.S3347= |
Synonymous |
30/46 |
- |
1 |
16-2099671-A-C |
c.10023T>G |
p.L3341= |
Synonymous |
30/46 |
- |
2 |
16-2099671-A-G |
c.10023T>C |
p.L3341= |
Synonymous |
30/46 |
- |
2 |
16-2099671-A-T |
c.10023T>A |
p.L3341= |
Synonymous |
30/46 |
- |
2 |
16-2099673-G-A |
c.10021C>T |
p.L3341F |
Missense |
30/46 |
- |
2 |
16-2099674-G-A |
c.10020C>T |
p.I3340= |
Synonymous |
30/46 |
- |
1 |
16-2099690-G-A |
c.10004C>T |
p.P3335L |
Missense |
30/46 |
- |
3 |
16-2099694-A-G |
c.10000T>C |
p.Y3334H |
Missense |
30/46 |
- |
1 |
16-2099694-TAGACAAC-T |
c.9994_10000del |
p.V3332Ifs*63 |
Frameshift |
30/46 |
- |
1 |
16-2099695-GAC-CAT |
c.9997_9999delinsATG |
p.V3333M |
Missense |
30/46 |
- |
1 |
16-2099697-CA-C |
c.9996del |
p.V3333Sfs*64 |
Frameshift |
30/46 |
- |
1 |
16-2099699-A-G |
c.9995T>C |
p.V3332A |
Missense |
30/46 |
- |
1 |
16-2099700-C-A |
c.9994G>T |
p.V3332F |
Missense |
30/46 |
- |
1 |
16-2099702-A-C |
c.9992T>G |
p.V3331G |
Missense |
30/46 |
- |
1 |
16-2099719-AAC-CAT |
c.9973_9975delinsATG |
p.V3325M |
Missense |
30/46 |
- |
1 |
16-2099729-G-A |
c.9965C>T |
p.T3322I |
Missense |
30/46 |
- |
1 |
16-2099727-CTG-C |
c.9965_9966del |
p.T3322Sfs*67 |
Frameshift |
30/46 |
- |
1 |
16-2099731-G-A |
c.9963C>T |
p.D3321= |
Synonymous |
30/46 |
- |
1 |
16-2099733-C-T |
c.9961G>A |
p.D3321N |
Missense |
30/46 |
- |
3 |
16-2099734-G-A |
c.9960C>T |
p.V3320= |
Synonymous |
30/46 |
- |
3 |
16-2099734-G-C |
c.9960C>G |
p.V3320= |
Synonymous |
30/46 |
- |
1 |
16-2099734-G-T |
c.9960C>A |
p.V3320= |
Synonymous |
30/46 |
- |
1 |
16-2099737-G-A |
c.9957C>T |
p.S3319= |
Synonymous |
30/46 |
- |
1 |
16-2099744-G-A |
c.9950C>T |
p.P3317L |
Missense |
30/46 |
- |
1 |
16-2099747-C-T |
c.9947G>A |
p.S3316N |
Missense |
30/46 |
- |
1 |
16-2099757-A-G |
c.9937T>C |
p.S3313P |
Missense |
30/46 |
- |
1 |
16-2099762-T-C |
c.9932A>G |
p.H3311R |
Missense |
30/46 |
- |
4 |
16-2099819-G-A |
c.9923+42C>T |
- |
IntronicSNV |
- |
29/45 |
1 |
16-2099860-C-A |
c.9923+1G>T |
- |
IntronicSNV |
- |
29/45 |
2 |
16-2099861-C-T |
c.9923G>A |
p.S3308N |
Missense |
29/46 |
- |
2 |
16-2099868-CAG-C |
c.9914_9915del |
p.S3305Cfs*84 |
Frameshift |
29/46 |
- |
1 |
16-2099871-A-T |
c.9913T>A |
p.S3305T |
Missense |
29/46 |
- |
1 |
16-2099874-C-T |
c.9910G>A |
p.D3304N |
Missense |
29/46 |
- |
1 |
16-2099875-G-A |
c.9909C>T |
p.G3303= |
Synonymous |
29/46 |
- |
2 |
16-2099875-G-C |
c.9909C>G |
p.G3303= |
Synonymous |
29/46 |
- |
1 |
16-2099875-G-T |
c.9909C>A |
p.G3303= |
Synonymous |
29/46 |
- |
3 |
16-2099880-C-G |
c.9904G>C |
p.V3302L |
Missense |
29/46 |
- |
1 |
16-2099884-C-A |
c.9900G>T |
p.G3300= |
Synonymous |
29/46 |
- |
1 |
16-2099886-C-G |
c.9898G>C |
p.G3300R |
Missense |
29/46 |
- |
2 |
16-2099886-C-T |
c.9898G>A |
p.G3300R |
Missense |
29/46 |
- |
6 |
16-2099890-C-T |
c.9894G>A |
p.W3298* |
Nonsense |
29/46 |
- |
1 |
16-2099895-C-T |
c.9889G>A |
p.V3297M |
Missense |
29/46 |
- |
3 |
16-2099898-C-T |
c.9886G>A |
p.A3296T |
Missense |
29/46 |
- |
3 |
16-2099899-G-A |
c.9885C>T |
p.N3295= |
Synonymous |
29/46 |
- |
1 |
16-2099899-G-C |
c.9885C>G |
p.N3295K |
Missense |
29/46 |
- |
1 |
16-2099900-T-C |
c.9884A>G |
p.N3295S |
Missense |
29/46 |
- |
5 |
16-2099902-G-T |
c.9882C>A |
p.A3294= |
Synonymous |
29/46 |
- |
1 |
16-2099911-G-A |
c.9873C>T |
p.F3291= |
Synonymous |
29/46 |
- |
1 |
16-2099917-G-A |
c.9867C>T |
p.C3289= |
Synonymous |
29/46 |
- |
1 |
16-2099924-A-G |
c.9860T>C |
p.L3287P |
Missense |
29/46 |
- |
1 |
16-2099925-G-T |
c.9859C>A |
p.L3287I |
Missense |
29/46 |
- |
1 |
16-2099922-TGAG-T |
c.9859_9861del |
p.L3287del |
InFrameDeletion |
29/46 |
- |
5 |
16-2099930-A-C |
c.9854T>G |
p.V3285G |
Missense |
29/46 |
- |
1 |
16-2099931-C-G |
c.9853G>C |
p.V3285L |
Missense |
29/46 |
- |
1 |
16-2099931-C-T |
c.9853G>A |
p.V3285I |
Missense |
29/46 |
- |
6 |
16-2099932-G-T |
c.9852C>A |
p.C3284* |
Nonsense |
29/46 |
- |
1 |
16-2099936-C-G |
c.9848G>C |
p.C3283S |
Missense |
29/46 |
- |
1 |
16-2099937-A-T |
c.9847T>A |
p.C3283S |
Missense |
29/46 |
- |
1 |
16-2099939-G-T |
c.9845C>A |
p.T3282N |
Missense |
29/46 |
- |
1 |
16-2099943-C-T |
c.9841G>A |
p.A3281T |
Missense |
29/46 |
- |
1 |
16-2099945-CT-TA |
c.9838_9839delinsTA |
p.R3280* |
Nonsense |
29/46 |
- |
1 |
16-2099949-G-A |
c.9835C>T |
p.Q3279* |
Nonsense |
29/46 |
- |
1 |
16-2099955-G-A |
c.9829C>T |
p.R3277C |
Missense |
29/46 |
- |
66 |
16-2099957-AG-A |
c.9827del |
p.T3276Ifs*40 |
Frameshift |
29/46 |
- |
1 |
16-2099963-C-T |
c.9821G>A |
p.R3274H |
Missense |
29/46 |
- |
2 |
16-2099964-G-A |
c.9820C>T |
p.R3274C |
Missense |
29/46 |
- |
3 |
16-2099966-C-T |
c.9818G>A |
p.S3273N |
Missense |
29/46 |
- |
1 |
16-2099968-A-C |
c.9816T>G |
p.R3272= |
Synonymous |
29/46 |
- |
2 |
16-2099968-A-G |
c.9816T>C |
p.R3272= |
Synonymous |
29/46 |
- |
2 |
16-2099968-A-T |
c.9816T>A |
p.R3272= |
Synonymous |
29/46 |
- |
2 |
16-2099969-C-T |
c.9815G>A |
p.R3272H |
Missense |
29/46 |
- |
2 |
16-2099970-G-A |
c.9814C>T |
p.R3272C |
Missense |
29/46 |
- |
1 |
16-2099974-C-A |
c.9810G>T |
p.P3270= |
Synonymous |
29/46 |
- |
1 |
16-2099974-C-G |
c.9810G>C |
p.P3270= |
Synonymous |
29/46 |
- |
1 |
16-2099974-C-T |
c.9810G>A |
p.P3270= |
Synonymous |
29/46 |
- |
1 |
16-2099977-CCG-ACA |
c.9805_9807delinsTGT |
p.R3269C |
Missense |
29/46 |
- |
3 |
16-2099978-C-A |
c.9806G>T |
p.R3269L |
Missense |
29/46 |
- |
1 |
16-2099978-C-T |
c.9806G>A |
p.R3269Q |
Missense |
29/46 |
- |
3 |
16-2099979-G-A |
c.9805C>T |
p.R3269W |
Missense |
29/46 |
- |
1 |
16-2099980-G-T |
c.9804C>A |
p.D3268E |
Missense |
29/46 |
- |
1 |
16-2099983-C-T |
c.9801G>A |
p.W3267* |
Nonsense |
29/46 |
- |
1 |
16-2099984-C-A |
c.9800G>T |
p.W3267L |
Missense |
29/46 |
- |
1 |
16-2099986-T-C |
c.9798A>G |
p.I3266M |
Missense |
29/46 |
- |
1 |
16-2099989-G-A |
c.9795C>T |
p.S3265= |
Synonymous |
29/46 |
- |
2 |
16-2099989-G-C |
c.9795C>G |
p.S3265= |
Synonymous |
29/46 |
- |
1 |
16-2099989-G-T |
c.9795C>A |
p.S3265= |
Synonymous |
29/46 |
- |
1 |
16-2099995-C-A |
c.9789G>T |
p.W3263C |
Missense |
29/46 |
- |
1 |
16-2099997-A-G |
c.9787T>C |
p.W3263R |
Missense |
29/46 |
- |
1 |
16-2100000-T-C |
c.9784A>G |
p.I3262V |
Missense |
29/46 |
- |
1 |
16-2100007-TGTCAAAG-T |
c.9771_9777del |
p.F3257Lfs*57 |
Frameshift |
29/46 |
- |
1 |
16-2100010-A-C |
c.9774T>G |
p.F3258L |
Missense |
29/46 |
- |
1 |
16-2100015-A-G |
c.9769T>C |
p.F3257L |
Missense |
29/46 |
- |
2 |
16-2100015-A-AG |
c.9768dup |
p.F3257Lfs*3 |
Frameshift |
29/46 |
- |
1 |
16-2100021-G-A |
c.9763C>T |
p.R3255C |
Missense |
29/46 |
- |
1 |
16-2100026-A-G |
c.9758T>C |
p.L3253P |
Missense |
29/46 |
- |
1 |
16-2100028-C-G |
c.9756G>C |
p.E3252D |
Missense |
29/46 |
- |
2 |
16-2100028-GCTC-G |
c.9754_9756del |
p.E3252del |
InFrameDeletion |
29/46 |
- |
1 |
16-2100024-GCAGCT-G |
c.9755_9759del |
p.E3252Afs*6 |
Frameshift |
29/46 |
- |
1 |
16-2100027-GCT-G |
c.9755_9756del |
p.E3252Afs*7 |
Frameshift |
29/46 |
- |
1 |
16-2100038-A-G |
c.9746T>C |
p.L3249P |
Missense |
29/46 |
- |
2 |
16-2100044-C-T |
c.9740G>A |
p.R3247H |
Missense |
29/46 |
- |
2 |
16-2100045-G-A |
c.9739C>T |
p.R3247C |
Missense |
29/46 |
- |
3 |
16-2100049-G-A |
c.9735C>T |
p.F3245= |
Synonymous |
29/46 |
- |
1 |
16-2100049-G-C |
c.9735C>G |
p.F3245L |
Missense |
29/46 |
- |
1 |
16-2100053-C-T |
c.9731G>A |
p.R3244H |
Missense |
29/46 |
- |
3 |
16-2100054-G-A |
c.9730C>T |
p.R3244C |
Missense |
29/46 |
- |
2 |
16-2100059-A-G |
c.9725T>C |
p.L3242P |
Missense |
29/46 |
- |
1 |
16-2100066-C-T |
c.9718G>A |
p.A3240T |
Missense |
29/46 |
- |
3 |
16-2100067-G-A |
c.9717C>T |
p.D3239= |
Synonymous |
29/46 |
- |
1 |
16-2100070-CG-C |
c.9714del |
p.S3238Rfs*78 |
Frameshift |
29/46 |
- |
1 |
16-2100070-G-A |
c.9714C>T |
p.S3238= |
Synonymous |
29/46 |
- |
1 |
16-2100075-G-A |
c.9713-4C>T |
- |
IntronicSNV |
- |
28/45 |
1 |
16-2100136-A-C |
c.9712+30T>G |
- |
IntronicSNV |
- |
28/45 |
1 |
16-2100165-C-A |
c.9712+1G>T |
- |
IntronicSNV |
- |
28/45 |
1 |
16-2100165-C-T |
c.9712+1G>A |
- |
IntronicSNV |
- |
28/45 |
1 |
16-2100165-C-CT |
c.9712dup |
p.S3238Kfs*15 |
SpliceDonorInsertion |
28/46 |
- |
1 |
16-2100166-T-TA |
c.9711_9712insT |
p.S3238* |
SpliceDonorInsertion |
28/46 |
- |
1 |
16-2100166-T-TG |
c.9711_9712insC |
p.S3238Qfs*15 |
SpliceDonorInsertion |
28/46 |
- |
1 |
16-2100166-T-TC |
c.9711dup |
p.S3238Efs*15 |
SpliceDonorInsertion |
28/46 |
- |
1 |
16-2100176-C-A |
c.9702G>T |
p.V3234= |
Synonymous |
28/46 |
- |
1 |
16-2100176-C-G |
c.9702G>C |
p.V3234= |
Synonymous |
28/46 |
- |
1 |
16-2100176-C-T |
c.9702G>A |
p.V3234= |
Synonymous |
28/46 |
- |
1 |
16-2100179-C-T |
c.9699G>A |
p.E3233= |
Synonymous |
28/46 |
- |
1 |
16-2100180-T-A |
c.9698A>T |
p.E3233V |
Missense |
28/46 |
- |
1 |
16-2100184-T-A |
c.9694A>T |
p.K3232* |
Nonsense |
28/46 |
- |
1 |
16-2100184-T-C |
c.9694A>G |
p.K3232E |
Missense |
28/46 |
- |
1 |
16-2100185-C-A |
c.9693G>T |
p.E3231D |
Missense |
28/46 |
- |
1 |
16-2100185-C-G |
c.9693G>C |
p.E3231D |
Missense |
28/46 |
- |
2 |
16-2100188-C-T |
c.9690G>A |
p.V3230= |
Synonymous |
28/46 |
- |
1 |
16-2100198-C-T |
c.9680G>A |
p.G3227E |
Missense |
28/46 |
- |
1 |
16-2100200-G-A |
c.9678C>T |
p.N3226= |
Synonymous |
28/46 |
- |
2 |
16-2100201-T-G |
c.9677A>C |
p.N3226T |
Missense |
28/46 |
- |
3 |
16-2100204-G-A |
c.9674C>T |
p.A3225V |
Missense |
28/46 |
- |
2 |
16-2100209-C-A |
c.9669G>T |
p.T3223= |
Synonymous |
28/46 |
- |
1 |
16-2100209-C-G |
c.9669G>C |
p.T3223= |
Synonymous |
28/46 |
- |
1 |
16-2100209-C-T |
c.9669G>A |
p.T3223= |
Synonymous |
28/46 |
- |
2 |
16-2100210-G-A |
c.9668C>T |
p.T3223M |
Missense |
28/46 |
- |
3 |
16-2100210-GTC-G |
c.9666_9667del |
p.E3222Dfs*30 |
Frameshift |
28/46 |
- |
1 |
16-2100214-C-G |
c.9664G>C |
p.E3222Q |
Missense |
28/46 |
- |
1 |
16-2100219-G-A |
c.9659C>T |
p.S3220L |
Missense |
28/46 |
- |
3 |
16-2100219-G-T |
c.9659C>A |
p.S3220* |
Nonsense |
28/46 |
- |
1 |
16-2100232-T-C |
c.9646A>G |
p.N3216D |
Missense |
28/46 |
- |
1 |
16-2100234-A-G |
c.9644T>C |
p.V3215A |
Missense |
28/46 |
- |
1 |
16-2100237-AG-GA |
c.9640_9641delinsTC |
p.L3214S |
Missense |
28/46 |
- |
1 |
16-2100238-G-A |
c.9640C>T |
p.L3214= |
Synonymous |
28/46 |
- |
2 |
16-2100241-A-C |
c.9637T>G |
p.F3213V |
Missense |
28/46 |
- |
1 |
16-2100243-A-G |
c.9635T>C |
p.F3212S |
Missense |
28/46 |
- |
1 |
16-2100244-A-C |
c.9634T>G |
p.F3212V |
Missense |
28/46 |
- |
1 |
16-2100246-G-A |
c.9632C>T |
p.A3211V |
Missense |
28/46 |
- |
1 |
16-2100247-C-T |
c.9631G>A |
p.A3211T |
Missense |
28/46 |
- |
2 |
16-2100252-C-T |
c.9626G>A |
p.R3209H |
Missense |
28/46 |
- |
1 |
16-2100253-G-A |
c.9625C>T |
p.R3209C |
Missense |
28/46 |
- |
1 |
16-2100256-C-T |
c.9622G>A |
p.A3208T |
Missense |
28/46 |
- |
1 |
16-2100258-G-A |
c.9620C>T |
p.T3207M |
Missense |
28/46 |
- |
1 |
16-2100262-G-A |
c.9616C>T |
p.Q3206* |
Nonsense |
28/46 |
- |
2 |
16-2100274-C-T |
c.9604G>A |
p.V3202I |
Missense |
28/46 |
- |
1 |
16-2100286-G-A |
c.9592C>T |
p.Q3198* |
Nonsense |
28/46 |
- |
1 |
16-2100290-G-A |
c.9588C>T |
p.F3196= |
Synonymous |
28/46 |
- |
1 |
16-2100293-C-A |
c.9585G>T |
p.W3195C |
Missense |
28/46 |
- |
1 |
16-2100293-C-T |
c.9585G>A |
p.W3195* |
Nonsense |
28/46 |
- |
2 |
16-2100294-C-T |
c.9584G>A |
p.W3195* |
Nonsense |
28/46 |
- |
1 |
16-2100295-A-G |
c.9583T>C |
p.W3195R |
Missense |
28/46 |
- |
2 |
16-2100295-A-T |
c.9583T>A |
p.W3195R |
Missense |
28/46 |
- |
1 |
16-2100296-G-A |
c.9582C>T |
p.A3194= |
Synonymous |
28/46 |
- |
2 |
16-2100297-G-A |
c.9581C>T |
p.A3194V |
Missense |
28/46 |
- |
1 |
16-2100300-G-A |
c.9578C>T |
p.P3193L |
Missense |
28/46 |
- |
8 |
16-2100303-C-T |
c.9575G>A |
p.S3192N |
Missense |
28/46 |
- |
1 |
16-2100309-C-A |
c.9569G>T |
p.G3190V |
Missense |
28/46 |
- |
2 |
16-2100322-A-C |
c.9569-13T>G |
- |
IntronicSNV |
- |
27/45 |
2 |
16-2100322-A-G |
c.9569-13T>C |
- |
IntronicSNV |
- |
27/45 |
2 |
16-2100396-C-A |
c.9568G>T |
p.G3190W |
Missense |
27/46 |
- |
1 |
16-2100396-C-T |
c.9568G>A |
p.G3190R |
Missense |
27/46 |
- |
1 |
16-2100400-G-C |
c.9564C>G |
p.N3188K |
Missense |
27/46 |
- |
1 |
16-2100400-G-T |
c.9564C>A |
p.N3188K |
Missense |
27/46 |
- |
1 |
16-2100401-T-A |
c.9563A>T |
p.N3188I |
Missense |
27/46 |
- |
1 |
16-2100401-T-C |
c.9563A>G |
p.N3188S |
Missense |
27/46 |
- |
3 |
16-2100397-TTTG-T |
c.9564_9566del |
p.N3188del |
InFrameDeletion |
27/46 |
- |
1 |
16-2100402-T-C |
c.9562A>G |
p.N3188D |
Missense |
27/46 |
- |
3 |
16-2100403-G-T |
c.9561C>A |
p.D3187E |
Missense |
27/46 |
- |
1 |
16-2100402-TGTC-T |
c.9559_9561del |
p.D3187del |
InFrameDeletion |
27/46 |
- |
2 |
16-2100405-C-CA |
c.9558_9559insT |
p.D3187* |
Nonsense |
27/46 |
- |
1 |
16-2100408-G-A |
c.9556C>T |
p.H3186Y |
Missense |
27/46 |
- |
1 |
16-2100409-C-G |
c.9555G>C |
p.W3185C |
Missense |
27/46 |
- |
1 |
16-2100410-C-T |
c.9554G>A |
p.W3185* |
Nonsense |
27/46 |
- |
1 |
16-2100415-T-G |
c.9549A>C |
p.R3183= |
Synonymous |
27/46 |
- |
1 |
16-2100416-C-T |
c.9548G>A |
p.R3183Q |
Missense |
27/46 |
- |
10 |
16-2100417-G-A |
c.9547C>T |
p.R3183* |
Nonsense |
27/46 |
- |
3 |
16-2100418-G-A |
c.9546C>T |
p.I3182= |
Synonymous |
27/46 |
- |
2 |
16-2100423-T-C |
c.9541A>G |
p.K3181E |
Missense |
27/46 |
- |
1 |
16-2100424-C-T |
c.9540G>A |
p.W3180* |
Nonsense |
27/46 |
- |
1 |
16-2100425-C-T |
c.9539G>A |
p.W3180* |
Nonsense |
27/46 |
- |
2 |
16-2100429-C-T |
c.9535G>A |
p.V3179M |
Missense |
27/46 |
- |
1 |
16-2100431-C-A |
c.9533G>T |
p.S3178I |
Missense |
27/46 |
- |
1 |
16-2100441-T-A |
c.9523A>T |
p.S3175C |
Missense |
27/46 |
- |
1 |
16-2100445-C-A |
c.9519G>T |
p.P3173= |
Synonymous |
27/46 |
- |
1 |
16-2100446-G-A |
c.9518C>T |
p.P3173L |
Missense |
27/46 |
- |
2 |
16-2100447-G-A |
c.9517C>T |
p.P3173S |
Missense |
27/46 |
- |
4 |
16-2100445-CG-C |
c.9518del |
p.P3173Rfs*143 |
Frameshift |
27/46 |
- |
1 |
16-2100450-TG-T |
c.9513del |
p.T3172Pfs*144 |
Frameshift |
27/46 |
- |
2 |
16-2100452-G-A |
c.9512C>T |
p.A3171V |
Missense |
27/46 |
- |
1 |
16-2100454-G-A |
c.9510C>T |
p.I3170= |
Synonymous |
27/46 |
- |
1 |
16-2100456-TC-T |
c.9507del |
p.I3170Sfs*146 |
Frameshift |
27/46 |
- |
1 |
16-2100458-C-T |
c.9506G>A |
p.R3169Q |
Missense |
27/46 |
- |
7 |
16-2100459-G-A |
c.9505C>T |
p.R3169W |
Missense |
27/46 |
- |
1 |
16-2100460-G-C |
c.9504C>G |
p.F3168L |
Missense |
27/46 |
- |
3 |
16-2100459-GGAA-G |
c.9502_9504del |
p.F3168del |
InFrameDeletion |
27/46 |
- |
1 |
16-2100460-G-T |
c.9504C>A |
p.F3168L |
Missense |
27/46 |
- |
1 |
16-2100462-A-C |
c.9502T>G |
p.F3168V |
Missense |
27/46 |
- |
1 |
16-2100462-A-G |
c.9502T>C |
p.F3168L |
Missense |
27/46 |
- |
1 |
16-2100465-T-A |
c.9499A>T |
p.I3167F |
Missense |
27/46 |
- |
10 |
16-2100468-C-A |
c.9496G>T |
p.D3166Y |
Missense |
27/46 |
- |
1 |
16-2100471-G-A |
c.9493C>T |
p.L3165= |
Synonymous |
27/46 |
- |
1 |
16-2100472-G-A |
c.9492C>T |
p.S3164= |
Synonymous |
27/46 |
- |
1 |
16-2100473-CT-GC |
c.9490_9491delinsGC |
p.S3164A |
Missense |
27/46 |
- |
1 |
16-2100473-CT-TC |
c.9490_9491delinsGA |
p.S3164D |
Missense |
27/46 |
- |
1 |
16-2100479-C-A |
c.9485G>T |
p.R3162L |
Missense |
27/46 |
- |
1 |
16-2100480-G-A |
c.9484C>T |
p.R3162C |
Missense |
27/46 |
- |
6 |
16-2100488-GCT-G |
c.9474_9475del |
p.R3158Sfs*20 |
Frameshift |
27/46 |
- |
1 |
16-2100491-C-T |
c.9473G>A |
p.R3158K |
Missense |
27/46 |
- |
1 |
16-2100495-C-T |
c.9469G>A |
p.D3157N |
Missense |
27/46 |
- |
1 |
16-2100499-G-A |
c.9465C>T |
p.D3155= |
Synonymous |
27/46 |
- |
1 |
16-2100503-A-G |
c.9461T>C |
p.L3154P |
Missense |
27/46 |
- |
2 |
16-2100508-C-CG |
c.9455_9456insC |
p.H3153Afs*26 |
Frameshift |
27/46 |
- |
1 |
16-2100510-G-A |
c.9454C>T |
p.R3152W |
Missense |
27/46 |
- |
1 |
16-2100516-C-A |
c.9448G>T |
p.G3150C |
Missense |
27/46 |
- |
1 |
16-2100521-C-T |
c.9443G>A |
p.R3148Q |
Missense |
27/46 |
- |
1 |
16-2100526-G-C |
c.9438C>G |
p.D3146E |
Missense |
27/46 |
- |
1 |
16-2100526-G-T |
c.9438C>A |
p.D3146E |
Missense |
27/46 |
- |
1 |
16-2100532-C-A |
c.9432G>T |
p.G3144= |
Synonymous |
27/46 |
- |
1 |
16-2100532-C-G |
c.9432G>C |
p.G3144= |
Synonymous |
27/46 |
- |
1 |
16-2100532-C-T |
c.9432G>A |
p.G3144= |
Synonymous |
27/46 |
- |
1 |
16-2100533-C-G |
c.9431G>C |
p.G3144A |
Missense |
27/46 |
- |
2 |
16-2100540-G-A |
c.9424C>T |
p.L3142= |
Synonymous |
27/46 |
- |
1 |
16-2100541-C-A |
c.9423G>T |
p.M3141I |
Missense |
27/46 |
- |
2 |
16-2100541-C-G |
c.9423G>C |
p.M3141I |
Missense |
27/46 |
- |
1 |
16-2100541-C-T |
c.9423G>A |
p.M3141I |
Missense |
27/46 |
- |
1 |
16-2100544-G-T |
c.9420C>A |
p.I3140= |
Synonymous |
27/46 |
- |
1 |
16-2100548-C-A |
c.9416G>T |
p.G3139V |
Missense |
27/46 |
- |
3 |
16-2100548-C-T |
c.9416G>A |
p.G3139D |
Missense |
27/46 |
- |
1 |
16-2100552-C-A |
c.9412G>T |
p.V3138L |
Missense |
27/46 |
- |
1 |
16-2100552-C-T |
c.9412G>A |
p.V3138M |
Missense |
27/46 |
- |
5 |
16-2100553-G-A |
c.9411C>T |
p.H3137= |
Synonymous |
27/46 |
- |
1 |
16-2100554-T-G |
c.9410A>C |
p.H3137P |
Missense |
27/46 |
- |
1 |
16-2100557-G-A |
c.9407C>T |
p.A3136V |
Missense |
27/46 |
- |
1 |
16-2100559-C-A |
c.9405G>T |
p.T3135= |
Synonymous |
27/46 |
- |
1 |
16-2100559-C-G |
c.9405G>C |
p.T3135= |
Synonymous |
27/46 |
- |
1 |
16-2100559-CG-GA |
c.9404_9405delinsTC |
p.T3135I |
Missense |
27/46 |
- |
1 |
16-2100559-C-T |
c.9405G>A |
p.T3135= |
Synonymous |
27/46 |
- |
1 |
16-2100560-G-A |
c.9404C>T |
p.T3135M |
Missense |
27/46 |
- |
6 |
16-2100561-T-C |
c.9403A>G |
p.T3135A |
Missense |
27/46 |
- |
1 |
16-2100564-T-C |
c.9400A>G |
p.T3134A |
Missense |
27/46 |
- |
2 |
16-2100566-C-A |
c.9398G>T |
p.G3133V |
Missense |
27/46 |
- |
1 |
16-2101220-C-G |
c.9398-654G>C |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101220-C-T |
c.9398-654G>A |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101349-A-G |
c.9397+712T>C |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101365-C-A |
c.9397+696G>T |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101475-G-A |
c.9397+586C>T |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101507-C-T |
c.9397+554G>A |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101514-G-C |
c.9397+547C>G |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101665-C-T |
c.9397+396G>A |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101725-G-A |
c.9397+336C>T |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101836-G-A |
c.9397+225C>T |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101892-G-C |
c.9397+169C>G |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101910-G-A |
c.9397+151C>T |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2101997-G-A |
c.9397+64C>T |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2102047-G-A |
c.9397+14C>T |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2102060-C-T |
c.9397+1G>A |
- |
IntronicSNV |
- |
26/45 |
1 |
16-2102063-G-A |
c.9395C>T |
p.S3132L |
Missense |
26/46 |
- |
3 |
16-2102066-C-A |
c.9392G>T |
p.G3131V |
Missense |
26/46 |
- |
1 |
16-2102067-C-T |
c.9391G>A |
p.G3131S |
Missense |
26/46 |
- |
1 |
16-2102064-AGCCCCG-A |
c.9388_9393del |
p.R3130_G3131del |
InFrameDeletion |
26/46 |
- |
1 |
16-2102070-G-A |
c.9388C>T |
p.R3130W |
Missense |
26/46 |
- |
2 |
16-2102076-A-C |
c.9382T>G |
p.W3128G |
Missense |
26/46 |
- |
1 |
16-2102078-C-A |
c.9380G>T |
p.G3127V |
Missense |
26/46 |
- |
2 |
16-2102078-C-G |
c.9380G>C |
p.G3127A |
Missense |
26/46 |
- |
2 |
16-2102078-C-T |
c.9380G>A |
p.G3127D |
Missense |
26/46 |
- |
1 |
16-2102079-C-T |
c.9379G>A |
p.G3127S |
Missense |
26/46 |
- |
1 |
16-2102081-G-A |
c.9377C>T |
p.T3126I |
Missense |
26/46 |
- |
1 |
16-2102090-AG-GC |
c.9367_9368delinsGC |
p.L3123A |
Missense |
26/46 |
- |
1 |
16-2102091-G-A |
c.9367C>T |
p.L3123F |
Missense |
26/46 |
- |
1 |
16-2102091-G-C |
c.9367C>G |
p.L3123V |
Missense |
26/46 |
- |
1 |
16-2102094-T-G |
c.9364A>C |
p.I3122L |
Missense |
26/46 |
- |
1 |
16-2102095-CTCG-C |
c.9360_9362del |
p.Y3120_E3121delins* |
MultiAAMissense |
26/46 |
- |
1 |
16-2102097-C-T |
c.9361G>A |
p.E3121K |
Missense |
26/46 |
- |
3 |
16-2102098-G-GT |
c.9359dup |
p.Y3120* |
Nonsense |
26/46 |
- |
1 |
16-2102099-T-A |
c.9359A>T |
p.Y3120F |
Missense |
26/46 |
- |
1 |
16-2102100-A-T |
c.9358T>A |
p.Y3120N |
Missense |
26/46 |
- |
1 |
16-2102104-G-A |
c.9354C>T |
p.F3118= |
Synonymous |
26/46 |
- |
2 |
16-2102105-A-T |
c.9353T>A |
p.F3118Y |
Missense |
26/46 |
- |
1 |
16-2102108-C-T |
c.9350G>A |
p.R3117H |
Missense |
26/46 |
- |
1 |
16-2102111-C-A |
c.9347G>T |
p.G3116V |
Missense |
26/46 |
- |
1 |
16-2102115-G-A |
c.9343C>T |
p.R3115W |
Missense |
26/46 |
- |
3 |
16-2102118-G-A |
c.9340C>T |
p.Q3114* |
Nonsense |
26/46 |
- |
3 |
16-2102120-C-T |
c.9338G>A |
p.G3113E |
Missense |
26/46 |
- |
1 |
16-2102123-C-A |
c.9335G>T |
p.C3112F |
Missense |
26/46 |
- |
1 |
16-2102125-G-C |
c.9333C>G |
p.F3111L |
Missense |
26/46 |
- |
1 |
16-2102127-A-T |
c.9331T>A |
p.F3111I |
Missense |
26/46 |
- |
1 |
16-2102128-A-C |
c.9330T>G |
p.P3110= |
Synonymous |
26/46 |
- |
2 |
16-2102128-A-G |
c.9330T>C |
p.P3110= |
Synonymous |
26/46 |
- |
7 |
16-2102130-G-A |
c.9328C>T |
p.P3110S |
Missense |
26/46 |
- |
6 |
16-2102134-G-T |
c.9324C>A |
p.A3108= |
Synonymous |
26/46 |
- |
1 |
16-2102133-TG-T |
c.9324del |
p.I3109Sfs*207 |
Frameshift |
26/46 |
- |
1 |
16-2102136-C-T |
c.9322G>A |
p.A3108T |
Missense |
26/46 |
- |
2 |
16-2102137-G-A |
c.9321C>T |
p.R3107= |
Synonymous |
26/46 |
- |
1 |
16-2102137-G-C |
c.9321C>G |
p.R3107= |
Synonymous |
26/46 |
- |
1 |
16-2102137-G-T |
c.9321C>A |
p.R3107= |
Synonymous |
26/46 |
- |
1 |
16-2102141-C-T |
c.9317G>A |
p.G3106D |
Missense |
26/46 |
- |
1 |
16-2102142-C-G |
c.9316G>C |
p.G3106R |
Missense |
26/46 |
- |
1 |
16-2102144-C-G |
c.9314G>C |
p.R3105P |
Missense |
26/46 |
- |
1 |
16-2102145-G-A |
c.9313C>T |
p.R3105W |
Missense |
26/46 |
- |
2 |
16-2102145-G-C |
c.9313C>G |
p.R3105G |
Missense |
26/46 |
- |
1 |
16-2102146-G-A |
c.9312C>T |
p.S3104= |
Synonymous |
26/46 |
- |
1 |
16-2102147-C-A |
c.9311G>T |
p.S3104I |
Missense |
26/46 |
- |
1 |
16-2102157-A-C |
c.9301T>G |
p.L3101V |
Missense |
26/46 |
- |
1 |
16-2102158-C-A |
c.9300G>T |
p.Q3100H |
Missense |
26/46 |
- |
1 |
16-2102158-C-G |
c.9300G>C |
p.Q3100H |
Missense |
26/46 |
- |
1 |
16-2102159-T-G |
c.9299A>C |
p.Q3100P |
Missense |
26/46 |
- |
1 |
16-2102165-A-C |
c.9293T>G |
p.L3098R |
Missense |
26/46 |
- |
1 |
16-2102167-C-A |
c.9291G>T |
p.K3097N |
Missense |
26/46 |
- |
1 |
16-2102174-A-G |
c.9284T>C |
p.L3095P |
Missense |
26/46 |
- |
1 |
16-2102175-G-A |
c.9283C>T |
p.L3095= |
Synonymous |
26/46 |
- |
1 |
16-2102181-C-A |
c.9277G>T |
p.A3093S |
Missense |
26/46 |
- |
1 |
16-2102181-C-T |
c.9277G>A |
p.A3093T |
Missense |
26/46 |
- |
2 |
16-2102186-A-C |
c.9272T>G |
p.M3091R |
Missense |
26/46 |
- |
1 |
16-2102188-G-A |
c.9270C>T |
p.V3090= |
Synonymous |
26/46 |
- |
2 |
16-2102194-G-A |
c.9264C>T |
p.Y3088= |
Synonymous |
26/46 |
- |
2 |
16-2102197-G-A |
c.9261C>T |
p.T3087= |
Synonymous |
26/46 |
- |
1 |
16-2102197-G-C |
c.9261C>G |
p.T3087= |
Synonymous |
26/46 |
- |
1 |
16-2102197-G-T |
c.9261C>A |
p.T3087= |
Synonymous |
26/46 |
- |
1 |
16-2102198-G-C |
c.9260C>G |
p.T3087S |
Missense |
26/46 |
- |
1 |
16-2102202-C-T |
c.9256G>A |
p.V3086M |
Missense |
26/46 |
- |
1 |
16-2102205-G-A |
c.9253C>T |
p.L3085= |
Synonymous |
26/46 |
- |
1 |
16-2102210-A-G |
c.9248T>C |
p.V3083A |
Missense |
26/46 |
- |
1 |
16-2102216-C-A |
c.9242G>T |
p.C3081F |
Missense |
26/46 |
- |
2 |
16-2102217-A-G |
c.9241T>C |
p.C3081R |
Missense |
26/46 |
- |
2 |
16-2102217-CAT-C |
c.9240_9241del |
p.A3082Cfs*96 |
Frameshift |
26/46 |
- |
3 |
16-2102218-AT-A |
c.9240del |
p.C3081Vfs*6 |
Frameshift |
26/46 |
- |
1 |
16-2102229-C-T |
c.9229G>A |
p.V3077I |
Missense |
26/46 |
- |
1 |
16-2102236-G-C |
c.9222C>G |
p.N3074K |
Missense |
26/46 |
- |
3 |
16-2102236-G-T |
c.9222C>A |
p.N3074K |
Missense |
26/46 |
- |
1 |
16-2102236-GTT-TTG |
c.9220_9222delinsCAA |
p.N3074Q |
Missense |
26/46 |
- |
1 |
16-2102237-TT-GC |
c.9220_9221delinsGC |
p.N3074A |
Missense |
26/46 |
- |
1 |
16-2102245-C-T |
c.9213G>A |
p.A3071= |
Synonymous |
26/46 |
- |
1 |
16-2102246-G-A |
c.9212C>T |
p.A3071V |
Missense |
26/46 |
- |
1 |
16-2102250-T-C |
c.9208A>G |
p.T3070A |
Missense |
26/46 |
- |
1 |
16-2102251-C-A |
c.9207G>T |
p.P3069= |
Synonymous |
26/46 |
- |
1 |
16-2102251-C-G |
c.9207G>C |
p.P3069= |
Synonymous |
26/46 |
- |
1 |
16-2102251-C-T |
c.9207G>A |
p.P3069= |
Synonymous |
26/46 |
- |
1 |
16-2102252-G-T |
c.9206C>A |
p.P3069Q |
Missense |
26/46 |
- |
1 |
16-2102373-TCACTCACAGGAAACACAAAGCGGA-T |
c.9185_9201+7del |
- |
SpliceDonorDeletion |
25/46 |
25/45 |
1 |
16-2102379-A-G |
c.9201+2T>C |
- |
IntronicSNV |
- |
25/45 |
1 |
16-2102380-C-G |
c.9201+1G>C |
- |
IntronicSNV |
- |
25/45 |
1 |
16-2102380-C-T |
c.9201+1G>A |
- |
IntronicSNV |
- |
25/45 |
1 |
16-2102384-A-C |
c.9198T>G |
p.F3066L |
Missense |
25/46 |
- |
5 |
16-2102384-A-T |
c.9198T>A |
p.F3066L |
Missense |
25/46 |
- |
5 |
16-2102386-A-C |
c.9196T>G |
p.F3066V |
Missense |
25/46 |
- |
1 |
16-2102386-AC-GG |
c.9195_9196delinsCC |
p.F3066L |
Missense |
25/46 |
- |
2 |
16-2102386-A-G |
c.9196T>C |
p.F3066L |
Missense |
25/46 |
- |
19 |
16-2102387-C-A |
c.9195G>T |
p.V3065= |
Synonymous |
25/46 |
- |
4 |
16-2102387-C-G |
c.9195G>C |
p.V3065= |
Synonymous |
25/46 |
- |
11 |
16-2102390-A-C |
c.9192T>G |
p.F3064L |
Missense |
25/46 |
- |
2 |
16-2102390-A-T |
c.9192T>A |
p.F3064L |
Missense |
25/46 |
- |
2 |
16-2102392-A-G |
c.9190T>C |
p.F3064L |
Missense |
25/46 |
- |
2 |
16-2102394-C-G |
c.9188G>C |
p.R3063P |
Missense |
25/46 |
- |
2 |
16-2102394-C-T |
c.9188G>A |
p.R3063H |
Missense |
25/46 |
- |
2 |
16-2102395-G-A |
c.9187C>T |
p.R3063C |
Missense |
25/46 |
- |
4 |
16-2102396-G-A |
c.9186C>T |
p.V3062= |
Synonymous |
25/46 |
- |
2 |
16-2102396-G-C |
c.9186C>G |
p.V3062= |
Synonymous |
25/46 |
- |
1 |
16-2102396-G-T |
c.9186C>A |
p.V3062= |
Synonymous |
25/46 |
- |
1 |
16-2102397-A-T |
c.9185T>A |
p.V3062D |
Missense |
25/46 |
- |
1 |
16-2102398-C-T |
c.9184G>A |
p.V3062I |
Missense |
25/46 |
- |
2 |
16-2102406-G-T |
c.9176C>A |
p.P3059Q |
Missense |
25/46 |
- |
1 |
16-2102409-G-A |
c.9173C>T |
p.P3058L |
Missense |
25/46 |
- |
1 |
16-2102405-TG-T |
c.9176del |
p.P3059Qfs*15 |
Frameshift |
25/46 |
- |
2 |
16-2102413-C-T |
c.9169G>A |
p.V3057M |
Missense |
25/46 |
- |
6 |
16-2102414-G-A |
c.9168C>T |
p.F3056= |
Synonymous |
25/46 |
- |
3 |
16-2102416-A-G |
c.9166T>C |
p.F3056L |
Missense |
25/46 |
- |
2 |
16-2102419-G-A |
c.9163C>T |
p.L3055F |
Missense |
25/46 |
- |
1 |
16-2102423-G-A |
c.9159C>T |
p.A3053= |
Synonymous |
25/46 |
- |
1 |
16-2102424-G-T |
c.9158C>A |
p.A3053D |
Missense |
25/46 |
- |
1 |
16-2102425-C-T |
c.9157G>A |
p.A3053T |
Missense |
25/46 |
- |
4 |
16-2102426-G-A |
c.9156C>T |
p.G3052= |
Synonymous |
25/46 |
- |
1 |
16-2102426-G-C |
c.9156C>G |
p.G3052= |
Synonymous |
25/46 |
- |
2 |
16-2102428-C-G |
c.9154G>C |
p.G3052R |
Missense |
25/46 |
- |
2 |
16-2102429-G-A |
c.9153C>T |
p.F3051= |
Synonymous |
25/46 |
- |
3 |
16-2102432-G-GC |
c.9149_9150insG |
p.F3051Lfs*18 |
Frameshift |
25/46 |
- |
1 |
16-2102433-G-T |
c.9149C>A |
p.A3050D |
Missense |
25/46 |
- |
1 |
16-2102433-G-GC |
c.9148dup |
p.A3050Gfs*19 |
Frameshift |
25/46 |
- |
1 |
16-2102434-C-T |
c.9148G>A |
p.A3050T |
Missense |
25/46 |
- |
1 |
16-2102435-GG-CC |
c.9146_9147inv |
p.T3049R |
Missense |
25/46 |
- |
2 |
16-2102435-GGT-TTA |
c.9145_9147delinsTAA |
p.T3049* |
Nonsense |
25/46 |
- |
1 |
16-2102436-G-C |
c.9146C>G |
p.T3049S |
Missense |
25/46 |
- |
1 |
16-2102436-GT-AC |
c.9145_9146inv |
p.T3049V |
Missense |
25/46 |
- |
2 |
16-2102436-GT-CA |
c.9145_9146delinsTG |
p.T3049C |
Missense |
25/46 |
- |
1 |
16-2102436-GT-CC |
c.9145_9146delinsGG |
p.T3049G |
Missense |
25/46 |
- |
1 |
16-2102437-T-A |
c.9145A>T |
p.T3049S |
Missense |
25/46 |
- |
1 |
16-2102438-G-A |
c.9144C>T |
p.L3048= |
Synonymous |
25/46 |
- |
1 |
16-2102438-G-C |
c.9144C>G |
p.L3048= |
Synonymous |
25/46 |
- |
1 |
16-2102438-G-T |
c.9144C>A |
p.L3048= |
Synonymous |
25/46 |
- |
1 |
16-2102445-C-G |
c.9137G>C |
p.R3046P |
Missense |
25/46 |
- |
1 |
16-2102446-G-A |
c.9136C>T |
p.R3046C |
Missense |
25/46 |
- |
8 |
16-2102453-G-T |
c.9129C>A |
p.C3043* |
Nonsense |
25/46 |
- |
1 |
16-2102454-CA-GT |
c.9127_9128delinsAC |
p.C3043T |
Missense |
25/46 |
- |
1 |
16-2102454-C-T |
c.9128G>A |
p.C3043Y |
Missense |
25/46 |
- |
1 |
16-2102455-A-G |
c.9127T>C |
p.C3043R |
Missense |
25/46 |
- |
1 |
16-2102456-G-A |
c.9126C>T |
p.V3042= |
Synonymous |
25/46 |
- |
1 |
16-2102456-G-C |
c.9126C>G |
p.V3042= |
Synonymous |
25/46 |
- |
1 |
16-2102456-G-T |
c.9126C>A |
p.V3042= |
Synonymous |
25/46 |
- |
1 |
16-2102457-A-G |
c.9125T>C |
p.V3042A |
Missense |
25/46 |
- |
1 |
16-2102458-C-T |
c.9124G>A |
p.V3042I |
Missense |
25/46 |
- |
1 |
16-2102466-C-T |
c.9116G>A |
p.R3039H |
Missense |
25/46 |
- |
4 |
16-2102467-G-A |
c.9115C>T |
p.R3039C |
Missense |
25/46 |
- |
2 |
16-2102467-G-T |
c.9115C>A |
p.R3039S |
Missense |
25/46 |
- |
2 |
16-2102472-G-T |
c.9110C>A |
p.S3037* |
Nonsense |
25/46 |
- |
1 |
16-2102473-A-G |
c.9109T>C |
p.S3037P |
Missense |
25/46 |
- |
1 |
16-2102475-G-A |
c.9107C>T |
p.T3036I |
Missense |
25/46 |
- |
1 |
16-2102478-CTCCTCCA-C |
c.9098_9104del |
p.L3033Rfs*39 |
Frameshift |
25/46 |
- |
1 |
16-2102479-C-CA |
c.9102_9103insT |
p.E3035* |
Nonsense |
25/46 |
- |
1 |
16-2102485-G-T |
c.9097C>A |
p.L3033M |
Missense |
25/46 |
- |
1 |
16-2102486-G-A |
c.9096C>T |
p.P3032= |
Synonymous |
25/46 |
- |
2 |
16-2102485-GGGGCAGCA-G |
c.9089_9096del |
p.L3030Pfs*36 |
Frameshift |
25/46 |
- |
1 |
16-2102487-G-C |
c.9095C>G |
p.P3032R |
Missense |
25/46 |
- |
1 |
16-2102484-AG-A |
c.9097del |
p.L3033Wfs*41 |
Frameshift |
25/46 |
- |
3 |
16-2102491-G-C |
c.9091C>G |
p.L3031V |
Missense |
25/46 |
- |
1 |
16-2102494-AG-A |
c.9088del |
p.L3030Cfs*44 |
Frameshift |
25/46 |
- |
1 |
16-2102502-G-C |
c.9080C>G |
p.T3027R |
Missense |
25/46 |
- |
1 |
16-2102506-G-A |
c.9076C>T |
p.R3026W |
Missense |
25/46 |
- |
1 |
16-2102507-C-T |
c.9075G>A |
p.W3025* |
Nonsense |
25/46 |
- |
1 |
16-2102508-C-T |
c.9074G>A |
p.W3025* |
Nonsense |
25/46 |
- |
1 |
16-2102515-T-C |
c.9067A>G |
p.M3023V |
Missense |
25/46 |
- |
8 |
16-2102517-T-G |
c.9065A>C |
p.D3022A |
Missense |
25/46 |
- |
1 |
16-2102524-C-A |
c.9058G>T |
p.E3020* |
Nonsense |
25/46 |
- |
3 |
16-2102528-GA-G |
c.9053del |
p.F3018Sfs*56 |
Frameshift |
25/46 |
- |
1 |
16-2102531-G-C |
c.9051C>G |
p.Y3017* |
Nonsense |
25/46 |
- |
2 |
16-2102535-T-C |
c.9047A>G |
p.Q3016R |
Missense |
25/46 |
- |
11 |
16-2102539-A-T |
c.9043T>A |
p.C3015S |
Missense |
25/46 |
- |
1 |
16-2102541-A-G |
c.9041T>C |
p.L3014P |
Missense |
25/46 |
- |
1 |
16-2102543-GGGA-G |
c.9037_9039del |
p.S3013del |
InFrameDeletion |
25/46 |
- |
1 |
16-2102542-GGGACGT-G |
c.9034_9039del |
p.T3012_S3013del |
InFrameDeletion |
25/46 |
- |
1 |
16-2102544-G-A |
c.9038C>T |
p.S3013F |
Missense |
25/46 |
- |
1 |
16-2102543-GGACGT-G |
c.9034_9038del |
p.T3012Pfs*55 |
Frameshift |
25/46 |
- |
1 |
16-2102545-GAC-G |
c.9036_9037del |
p.S3013Pfs*55 |
Frameshift |
25/46 |
- |
1 |
16-2102546-C-T |
c.9036G>A |
p.T3012= |
Synonymous |
25/46 |
- |
2 |
16-2102547-G-A |
c.9035C>T |
p.T3012M |
Missense |
25/46 |
- |
3 |
16-2102548-T-G |
c.9034A>C |
p.T3012P |
Missense |
25/46 |
- |
1 |
16-2102549-G-C |
c.9033C>G |
p.Y3011* |
Nonsense |
25/46 |
- |
1 |
16-2102550-T-C |
c.9032A>G |
p.Y3011C |
Missense |
25/46 |
- |
1 |
16-2102553-A-G |
c.9029T>C |
p.L3010P |
Missense |
25/46 |
- |
1 |
16-2102553-A-T |
c.9029T>A |
p.L3010Q |
Missense |
25/46 |
- |
1 |
16-2102554-G-T |
c.9028C>A |
p.L3010M |
Missense |
25/46 |
- |
1 |
16-2102560-C-A |
c.9022G>T |
p.V3008L |
Missense |
25/46 |
- |
2 |
16-2102560-C-G |
c.9022G>C |
p.V3008L |
Missense |
25/46 |
- |
2 |
16-2102560-C-T |
c.9022G>A |
p.V3008M |
Missense |
25/46 |
- |
10 |
16-2102562-G-A |
c.9020C>T |
p.S3007F |
Missense |
25/46 |
- |
3 |
16-2102563-A-G |
c.9019T>C |
p.S3007P |
Missense |
25/46 |
- |
1 |
16-2102569-G-C |
c.9013C>G |
p.Q3005E |
Missense |
25/46 |
- |
5 |
16-2102572-G-T |
c.9010C>A |
p.L3004M |
Missense |
25/46 |
- |
1 |
16-2102573-C-T |
c.9009G>A |
p.A3003= |
Synonymous |
25/46 |
- |
1 |
16-2102576-C-T |
c.9006G>A |
p.S3002= |
Synonymous |
25/46 |
- |
2 |
16-2102576-C-CG |
c.9005dup |
p.A3003Gfs*66 |
Frameshift |
25/46 |
- |
1 |
16-2102577-G-A |
c.9005C>T |
p.S3002L |
Missense |
25/46 |
- |
1 |
16-2102584-G-A |
c.8998C>T |
p.R3000C |
Missense |
25/46 |
- |
1 |
16-2102583-CG-C |
c.8998del |
p.R3000Afs*74 |
Frameshift |
25/46 |
- |
1 |
16-2102585-G-GC |
c.8996_8997insG |
p.F2999Lfs*70 |
Frameshift |
25/46 |
- |
1 |
16-2102586-A-T |
c.8996T>A |
p.F2999Y |
Missense |
25/46 |
- |
2 |
16-2102587-A-C |
c.8995T>G |
p.F2999V |
Missense |
25/46 |
- |
1 |
16-2102591-G-C |
c.8991C>G |
p.S2997R |
Missense |
25/46 |
- |
2 |
16-2102592-C-A |
c.8990G>T |
p.S2997I |
Missense |
25/46 |
- |
1 |
16-2102592-C-G |
c.8990G>C |
p.S2997T |
Missense |
25/46 |
- |
1 |
16-2102595-G-A |
c.8987C>T |
p.S2996F |
Missense |
25/46 |
- |
2 |
16-2102595-G-C |
c.8987C>G |
p.S2996C |
Missense |
25/46 |
- |
1 |
16-2102596-A-G |
c.8986T>C |
p.S2996P |
Missense |
25/46 |
- |
1 |
16-2102597-G-A |
c.8985C>T |
p.L2995= |
Synonymous |
25/46 |
- |
2 |
16-2102598-A-C |
c.8984T>G |
p.L2995R |
Missense |
25/46 |
- |
2 |
16-2102599-G-A |
c.8983C>T |
p.L2995F |
Missense |
25/46 |
- |
3 |
16-2102602-T-C |
c.8980A>G |
p.N2994D |
Missense |
25/46 |
- |
1 |
16-2102604-A-G |
c.8978T>C |
p.L2993P |
Missense |
25/46 |
- |
6 |
16-2102609-G-T |
c.8973C>A |
p.Y2991* |
Nonsense |
25/46 |
- |
1 |
16-2102610-GTAA-G |
c.8970_8972del |
p.Y2991del |
InFrameDeletion |
25/46 |
- |
1 |
16-2102611-A-C |
c.8971T>G |
p.Y2991D |
Missense |
25/46 |
- |
1 |
16-2102613-C-T |
c.8969G>A |
p.S2990N |
Missense |
25/46 |
- |
1 |
16-2102616-C-G |
c.8966G>C |
p.G2989A |
Missense |
25/46 |
- |
1 |
16-2102618-C-A |
c.8964G>T |
p.A2988= |
Synonymous |
25/46 |
- |
1 |
16-2102618-C-G |
c.8964G>C |
p.A2988= |
Synonymous |
25/46 |
- |
1 |
16-2102618-C-T |
c.8964G>A |
p.A2988= |
Synonymous |
25/46 |
- |
6 |
16-2102619-G-A |
c.8963C>T |
p.A2988V |
Missense |
25/46 |
- |
3 |
16-2102629-T-A |
c.8953A>T |
p.R2985* |
Nonsense |
25/46 |
- |
1 |
16-2102629-T-C |
c.8953A>G |
p.R2985G |
Missense |
25/46 |
- |
3 |
16-2102630-G-C |
c.8952C>G |
p.S2984R |
Missense |
25/46 |
- |
1 |
16-2102630-G-T |
c.8952C>A |
p.S2984R |
Missense |
25/46 |
- |
1 |
16-2102632-T-G |
c.8950A>C |
p.S2984R |
Missense |
25/46 |
- |
1 |
16-2102632-T-C |
c.8950A>G |
p.S2984G |
Missense |
25/46 |
- |
1 |
16-2102650-T-C |
c.8949-17A>G |
- |
IntronicSNV |
- |
24/45 |
5 |
16-2102653-C-T |
c.8949-20G>A |
- |
IntronicSNV |
- |
24/45 |
1 |
16-2102797-T-C |
c.8948+17A>G |
- |
IntronicSNV |
- |
24/45 |
2 |
16-2102799-G-A |
c.8948+15C>T |
- |
IntronicSNV |
- |
24/45 |
1 |
16-2102803-G-A |
c.8948+11C>T |
- |
IntronicSNV |
- |
24/45 |
1 |
16-2102808-G-C |
c.8948+6C>G |
- |
IntronicSNV |
- |
24/45 |
1 |
16-2102811-C-CA |
c.8948+2dup |
- |
SpliceDonorInsertion |
- |
24/45 |
1 |
16-2102813-C-T |
c.8948+1G>A |
- |
IntronicSNV |
- |
24/45 |
1 |
16-2102816-C-A |
c.8946G>T |
p.P2982= |
Synonymous |
24/46 |
- |
1 |
16-2102816-C-G |
c.8946G>C |
p.P2982= |
Synonymous |
24/46 |
- |
1 |
16-2102816-C-T |
c.8946G>A |
p.P2982= |
Synonymous |
24/46 |
- |
1 |
16-2102820-G-A |
c.8942C>T |
p.S2981F |
Missense |
24/46 |
- |
2 |
16-2102825-G-A |
c.8937C>T |
p.F2979= |
Synonymous |
24/46 |
- |
2 |
16-2102828-G-A |
c.8934C>T |
p.F2978= |
Synonymous |
24/46 |
- |
1 |
16-2102824-TGAA-T |
c.8935_8937del |
p.F2979del |
InFrameDeletion |
24/46 |
- |
5 |
16-2102829-A-G |
c.8933T>C |
p.F2978S |
Missense |
24/46 |
- |
1 |
16-2102831-G-A |
c.8931C>T |
p.T2977= |
Synonymous |
24/46 |
- |
3 |
16-2102832-G-T |
c.8930C>A |
p.T2977N |
Missense |
24/46 |
- |
4 |
16-2102837-G-A |
c.8925C>T |
p.P2975= |
Synonymous |
24/46 |
- |
1 |
16-2102841-C-A |
c.8921G>T |
p.R2974L |
Missense |
24/46 |
- |
2 |
16-2102842-G-A |
c.8920C>T |
p.R2974W |
Missense |
24/46 |
- |
1 |
16-2102846-G-A |
c.8916C>T |
p.D2972= |
Synonymous |
24/46 |
- |
3 |
16-2102848-C-T |
c.8914G>A |
p.D2972N |
Missense |
24/46 |
- |
4 |
16-2102849-A-G |
c.8913T>C |
p.A2971= |
Synonymous |
24/46 |
- |
2 |
16-2102857-G-A |
c.8905C>T |
p.Q2969* |
Nonsense |
24/46 |
- |
2 |
16-2102857-G-C |
c.8905C>G |
p.Q2969E |
Missense |
24/46 |
- |
1 |
16-2102864-C-A |
c.8898G>T |
p.E2966D |
Missense |
24/46 |
- |
4 |
16-2102864-C-G |
c.8898G>C |
p.E2966D |
Missense |
24/46 |
- |
8 |
16-2102866-C-G |
c.8896G>C |
p.E2966Q |
Missense |
24/46 |
- |
1 |
16-2102874-A-G |
c.8888T>C |
p.I2963T |
Missense |
24/46 |
- |
1 |
16-2102879-C-A |
c.8883G>T |
p.R2961S |
Missense |
24/46 |
- |
1 |
16-2102879-C-G |
c.8883G>C |
p.R2961S |
Missense |
24/46 |
- |
1 |
16-2102888-C-A |
c.8874G>T |
p.S2958= |
Synonymous |
24/46 |
- |
1 |
16-2102889-G-A |
c.8873C>T |
p.S2958L |
Missense |
24/46 |
- |
3 |
16-2102892-C-T |
c.8870G>A |
p.C2957Y |
Missense |
24/46 |
- |
1 |
16-2102896-T-A |
c.8866A>T |
p.N2956Y |
Missense |
24/46 |
- |
1 |
16-2102897-G-C |
c.8865C>G |
p.H2955Q |
Missense |
24/46 |
- |
2 |
16-2102897-G-T |
c.8865C>A |
p.H2955Q |
Missense |
24/46 |
- |
1 |
16-2102898-GT-G |
c.8864del |
p.H2955Pfs*39 |
Frameshift |
24/46 |
- |
1 |
16-2102901-T-A |
c.8861A>T |
p.E2954V |
Missense |
24/46 |
- |
1 |
16-2102902-C-A |
c.8860G>T |
p.E2954* |
Nonsense |
24/46 |
- |
1 |
16-2102902-C-G |
c.8860G>C |
p.E2954Q |
Missense |
24/46 |
- |
1 |
16-2102902-C-CA |
c.8859dup |
p.E2954* |
Nonsense |
24/46 |
- |
1 |
16-2102904-T-C |
c.8858A>G |
p.N2953S |
Missense |
24/46 |
- |
2 |
16-2102908-G-A |
c.8854C>T |
p.P2952S |
Missense |
24/46 |
- |
2 |
16-2102911-G-A |
c.8851C>T |
p.R2951W |
Missense |
24/46 |
- |
2 |
16-2102918-C-T |
c.8844G>A |
p.S2948= |
Synonymous |
24/46 |
- |
1 |
16-2102919-GA-CC |
c.8842_8843delinsGG |
p.S2948G |
Missense |
24/46 |
- |
1 |
16-2102919-G-T |
c.8843C>A |
p.S2948* |
Nonsense |
24/46 |
- |
1 |
16-2102923-G-T |
c.8839C>A |
p.H2947N |
Missense |
24/46 |
- |
1 |
16-2102926-AGGT-A |
c.8834_8836del |
p.Y2945del |
InFrameDeletion |
24/46 |
- |
1 |
16-2102927-G-C |
c.8835C>G |
p.Y2945* |
Nonsense |
24/46 |
- |
1 |
16-2102928-T-C |
c.8834A>G |
p.Y2945C |
Missense |
24/46 |
- |
1 |
16-2102932-C-A |
c.8830G>T |
p.V2944F |
Missense |
24/46 |
- |
1 |
16-2102943-G-A |
c.8819C>T |
p.P2940L |
Missense |
24/46 |
- |
1 |
16-2102947-C-A |
c.8815G>T |
p.E2939* |
Nonsense |
24/46 |
- |
1 |
16-2102948-A-C |
c.8814T>G |
p.P2938= |
Synonymous |
24/46 |
- |
1 |
16-2102948-A-G |
c.8814T>C |
p.P2938= |
Synonymous |
24/46 |
- |
1 |
16-2102951-T-G |
c.8811A>C |
p.E2937D |
Missense |
24/46 |
- |
1 |
16-2102958-G-A |
c.8804C>T |
p.S2935F |
Missense |
24/46 |
- |
1 |
16-2102965-TAG-T |
c.8796_8797del |
p.H2932Qfs*4 |
Frameshift |
24/46 |
- |
1 |
16-2102966-G-GT |
c.8795dup |
p.H2932Qfs*5 |
Frameshift |
24/46 |
- |
2 |
16-2103176-A-G |
c.8791+90T>C |
- |
IntronicSNV |
- |
23/45 |
1 |
16-2103253-C-T |
c.8791+13G>A |
- |
IntronicSNV |
- |
23/45 |
1 |
16-2103266-C-T |
c.8791G>A |
p.G2931S |
Missense |
23/46 |
- |
1 |
16-2103268-T-G |
c.8789A>C |
p.D2930A |
Missense |
23/46 |
- |
1 |
16-2103269-C-A |
c.8788G>T |
p.D2930Y |
Missense |
23/46 |
- |
2 |
16-2103270-C-CGCAGCGTATAGTTGAGCTGCAGAT |
c.8786_8787insATCTGCAGCTCAACTATACGCTGC |
p.L2929_D2930insSAAQLYAA |
InFrameInsertion |
23/46 |
- |
1 |
16-2103275-G-T |
c.8782C>A |
p.L2928M |
Missense |
23/46 |
- |
1 |
16-2103276-C-T |
c.8781G>A |
p.T2927= |
Synonymous |
23/46 |
- |
1 |
16-2103277-G-A |
c.8780C>T |
p.T2927M |
Missense |
23/46 |
- |
6 |
16-2103280-T-C |
c.8777A>G |
p.Y2926C |
Missense |
23/46 |
- |
1 |
16-2103280-TAGTTG-T |
c.8772_8776del |
p.N2925Yfs*10 |
Frameshift |
23/46 |
- |
1 |
16-2103287-G-T |
c.8770C>A |
p.L2924I |
Missense |
23/46 |
- |
1 |
16-2103288-C-G |
c.8769G>C |
p.Q2923H |
Missense |
23/46 |
- |
1 |
16-2103288-C-T |
c.8769G>A |
p.Q2923= |
Synonymous |
23/46 |
- |
1 |
16-2103291-GC-G |
c.8766del |
p.Q2923Sfs*71 |
Frameshift |
23/46 |
- |
1 |
16-2103294-A-G |
c.8763T>C |
p.H2921= |
Synonymous |
23/46 |
- |
1 |
16-2103295-T-C |
c.8762A>G |
p.H2921R |
Missense |
23/46 |
- |
1 |
16-2103295-T-G |
c.8762A>C |
p.H2921P |
Missense |
23/46 |
- |
4 |
16-2103296-G-A |
c.8761C>T |
p.H2921Y |
Missense |
23/46 |
- |
1 |
16-2103301-C-A |
c.8756G>T |
p.G2919V |
Missense |
23/46 |
- |
1 |
16-2103298-AGCCCG-A |
c.8754_8758del |
p.G2919Afs*16 |
Frameshift |
23/46 |
- |
1 |
16-2103302-C-T |
c.8755G>A |
p.G2919R |
Missense |
23/46 |
- |
1 |
16-2103303-G-A |
c.8754C>T |
p.A2918= |
Synonymous |
23/46 |
- |
1 |
16-2103307-G-A |
c.8750C>T |
p.A2917V |
Missense |
23/46 |
- |
7 |
16-2103311-G-A |
c.8746C>T |
p.P2916S |
Missense |
23/46 |
- |
3 |
16-2103313-T-C |
c.8744A>G |
p.N2915S |
Missense |
23/46 |
- |
2 |
16-2103321-G-T |
c.8736C>A |
p.D2912E |
Missense |
23/46 |
- |
2 |
16-2103323-C-A |
c.8734G>T |
p.D2912Y |
Missense |
23/46 |
- |
1 |
16-2103323-C-T |
c.8734G>A |
p.D2912N |
Missense |
23/46 |
- |
2 |
16-2103338-C-A |
c.8719G>T |
p.A2907S |
Missense |
23/46 |
- |
1 |
16-2103340-C-T |
c.8717G>A |
p.G2906D |
Missense |
23/46 |
- |
2 |
16-2103341-C-T |
c.8716G>A |
p.G2906S |
Missense |
23/46 |
- |
2 |
16-2103344-C-T |
c.8713G>A |
p.V2905I |
Missense |
23/46 |
- |
7 |
16-2103348-G-T |
c.8709C>A |
p.A2903= |
Synonymous |
23/46 |
- |
1 |
16-2103350-C-G |
c.8707G>C |
p.A2903P |
Missense |
23/46 |
- |
1 |
16-2103352-TG-T |
c.8704del |
p.Q2902Rfs*92 |
Frameshift |
23/46 |
- |
1 |
16-2103356-G-T |
c.8701C>A |
p.P2901T |
Missense |
23/46 |
- |
1 |
16-2103357-C-A |
c.8700G>T |
p.Q2900H |
Missense |
23/46 |
- |
1 |
16-2103357-C-G |
c.8700G>C |
p.Q2900H |
Missense |
23/46 |
- |
1 |
16-2103359-G-A |
c.8698C>T |
p.Q2900* |
Nonsense |
23/46 |
- |
1 |
16-2103363-C-A |
c.8694G>T |
p.V2898= |
Synonymous |
23/46 |
- |
1 |
16-2103363-C-G |
c.8694G>C |
p.V2898= |
Synonymous |
23/46 |
- |
1 |
16-2103363-C-T |
c.8694G>A |
p.V2898= |
Synonymous |
23/46 |
- |
1 |
16-2103364-A-AAACTCCGTT |
c.8692_8693insAACGGAGTT |
p.V2898delinsERSL |
MultiAAMissense |
23/46 |
- |
1 |
16-2103366-CAA-C |
c.8690_8691del |
p.V2897Gfs*39 |
Frameshift |
23/46 |
- |
1 |
16-2103367-A-G |
c.8690T>C |
p.V2897A |
Missense |
23/46 |
- |
1 |
16-2103368-C-A |
c.8689G>T |
p.V2897F |
Missense |
23/46 |
- |
1 |
16-2103368-C-CCGGAGTTGG |
c.8688_8689insCCAACTCCG |
p.S2896_V2897insPTP |
InFrameInsertion |
23/46 |
- |
1 |
16-2103369-G-A |
c.8688C>T |
p.S2896= |
Synonymous |
23/46 |
- |
2 |
16-2103369-G-C |
c.8688C>G |
p.S2896= |
Synonymous |
23/46 |
- |
2 |
16-2103369-G-T |
c.8688C>A |
p.S2896= |
Synonymous |
23/46 |
- |
2 |
16-2103368-CGGA-C |
c.8686_8688del |
p.S2896del |
InFrameDeletion |
23/46 |
- |
1 |
16-2103370-G-A |
c.8687C>T |
p.S2896F |
Missense |
23/46 |
- |
7 |
16-2103377-C-T |
c.8680G>A |
p.A2894T |
Missense |
23/46 |
- |
1 |
16-2103378-G-A |
c.8679C>T |
p.S2893= |
Synonymous |
23/46 |
- |
2 |
16-2103378-G-C |
c.8679C>G |
p.S2893= |
Synonymous |
23/46 |
- |
2 |
16-2103378-G-GGAGCTGC |
c.8678_8679insGCAGCTC |
p.A2894Qfs*45 |
Frameshift |
23/46 |
- |
1 |
16-2103367-ACGGAGTTGG-A |
c.8681_8689del |
p.A2894_S2896del |
InFrameDeletion |
23/46 |
- |
4 |
16-2103386-C-T |
c.8671G>A |
p.A2891T |
Missense |
23/46 |
- |
3 |
16-2103388-G-A |
c.8669C>T |
p.S2890F |
Missense |
23/46 |
- |
1 |
16-2103390-G-C |
c.8667C>G |
p.S2889R |
Missense |
23/46 |
- |
2 |
16-2103390-G-T |
c.8667C>A |
p.S2889R |
Missense |
23/46 |
- |
2 |
16-2103392-T-G |
c.8665A>C |
p.S2889R |
Missense |
23/46 |
- |
2 |
16-2103393-G-A |
c.8664C>T |
p.R2888= |
Synonymous |
23/46 |
- |
1 |
16-2103394-C-T |
c.8663G>A |
p.R2888H |
Missense |
23/46 |
- |
2 |
16-2103395-G-A |
c.8662C>T |
p.R2888C |
Missense |
23/46 |
- |
1 |
16-2103395-G-C |
c.8662C>G |
p.R2888G |
Missense |
23/46 |
- |
3 |
16-2103403-C-A |
c.8654G>T |
p.R2885L |
Missense |
23/46 |
- |
1 |
16-2103403-C-T |
c.8654G>A |
p.R2885Q |
Missense |
23/46 |
- |
1 |
16-2103404-G-A |
c.8653C>T |
p.R2885W |
Missense |
23/46 |
- |
1 |
16-2103413-A-T |
c.8644T>A |
p.W2882R |
Missense |
23/46 |
- |
5 |
16-2103415-T-C |
c.8642A>G |
p.D2881G |
Missense |
23/46 |
- |
1 |
16-2103416-C-A |
c.8641G>T |
p.D2881Y |
Missense |
23/46 |
- |
1 |
16-2103418-G-A |
c.8639C>T |
p.S2880L |
Missense |
23/46 |
- |
1 |
16-2103420-G-T |
c.8637C>A |
p.N2879K |
Missense |
23/46 |
- |
1 |
16-2103426-G-A |
c.8631C>T |
p.P2877= |
Synonymous |
23/46 |
- |
1 |
16-2103427-G-A |
c.8630C>T |
p.P2877L |
Missense |
23/46 |
- |
1 |
16-2103428-G-A |
c.8629C>T |
p.P2877S |
Missense |
23/46 |
- |
2 |
16-2103433-T-A |
c.8624A>T |
p.K2875M |
Missense |
23/46 |
- |
1 |
16-2103433-T-G |
c.8624A>C |
p.K2875T |
Missense |
23/46 |
- |
1 |
16-2103437-C-G |
c.8620G>C |
p.V2874L |
Missense |
23/46 |
- |
1 |
16-2103439-G-A |
c.8618C>T |
p.T2873I |
Missense |
23/46 |
- |
3 |
16-2103442-A-C |
c.8615T>G |
p.I2872S |
Missense |
23/46 |
- |
1 |
16-2103443-AT-A |
c.8614del |
p.I2872Sfs*3 |
Frameshift |
23/46 |
- |
5 |
16-2103446-C-T |
c.8611G>A |
p.A2871T |
Missense |
23/46 |
- |
1 |
16-2103454-G-C |
c.8603C>G |
p.S2868* |
Nonsense |
23/46 |
- |
1 |
16-2103454-G-T |
c.8603C>A |
p.S2868* |
Nonsense |
23/46 |
- |
1 |
16-2103458-C-T |
c.8599G>A |
p.A2867T |
Missense |
23/46 |
- |
3 |
16-2103460-A-G |
c.8597T>C |
p.L2866P |
Missense |
23/46 |
- |
2 |
16-2103463-C-T |
c.8594G>A |
p.R2865Q |
Missense |
23/46 |
- |
1 |
16-2103464-G-A |
c.8593C>T |
p.R2865W |
Missense |
23/46 |
- |
4 |
16-2103467-C-A |
c.8590G>T |
p.E2864* |
Nonsense |
23/46 |
- |
2 |
16-2103470-T-C |
c.8587A>G |
p.I2863V |
Missense |
23/46 |
- |
1 |
16-2103470-TG-T |
c.8586del |
p.I2863Sfs*12 |
Frameshift |
23/46 |
- |
1 |
16-2103478-T-C |
c.8579A>G |
p.Q2860R |
Missense |
23/46 |
- |
1 |
16-2103479-G-A |
c.8578C>T |
p.Q2860* |
Nonsense |
23/46 |
- |
1 |
16-2103482-C-A |
c.8575G>T |
p.A2859S |
Missense |
23/46 |
- |
3 |
16-2103482-C-T |
c.8575G>A |
p.A2859T |
Missense |
23/46 |
- |
4 |
16-2103483-G-A |
c.8574C>T |
p.G2858= |
Synonymous |
23/46 |
- |
2 |
16-2103483-G-C |
c.8574C>G |
p.G2858= |
Synonymous |
23/46 |
- |
2 |
16-2103483-G-T |
c.8574C>A |
p.G2858= |
Synonymous |
23/46 |
- |
1 |
16-2103485-C-T |
c.8572G>A |
p.G2858S |
Missense |
23/46 |
- |
5 |
16-2103487-G-T |
c.8570C>A |
p.A2857D |
Missense |
23/46 |
- |
2 |
16-2103496-T-C |
c.8561A>G |
p.Q2854R |
Missense |
23/46 |
- |
1 |
16-2103498-G-A |
c.8559C>T |
p.F2853= |
Synonymous |
23/46 |
- |
2 |
16-2103499-A-G |
c.8558T>C |
p.F2853S |
Missense |
23/46 |
- |
5 |
16-2103501-T-A |
c.8556A>T |
p.A2852= |
Synonymous |
23/46 |
- |
1 |
16-2103501-T-C |
c.8556A>G |
p.A2852= |
Synonymous |
23/46 |
- |
1 |
16-2103501-T-G |
c.8556A>C |
p.A2852= |
Synonymous |
23/46 |
- |
1 |
16-2103505-A-T |
c.8552T>A |
p.M2851K |
Missense |
23/46 |
- |
2 |
16-2103507-C-T |
c.8550G>A |
p.S2850= |
Synonymous |
23/46 |
- |
1 |
16-2103508-CG-C |
c.8549del |
p.S2850* |
Frameshift |
23/46 |
- |
1 |
16-2103509-A-G |
c.8548T>C |
p.S2850P |
Missense |
23/46 |
- |
2 |
16-2103514-A-G |
c.8543T>C |
p.V2848A |
Missense |
23/46 |
- |
1 |
16-2103516-C-T |
c.8541G>A |
p.K2847= |
Synonymous |
23/46 |
- |
1 |
16-2103519-G-A |
c.8538C>T |
p.T2846= |
Synonymous |
23/46 |
- |
1 |
16-2103519-GG-CT |
c.8537_8538delinsAG |
p.T2846K |
Missense |
23/46 |
- |
1 |
16-2103521-T-C |
c.8536A>G |
p.T2846A |
Missense |
23/46 |
- |
1 |
16-2103521-T-G |
c.8536A>C |
p.T2846P |
Missense |
23/46 |
- |
1 |
16-2103527-C-T |
c.8530G>A |
p.V2844I |
Missense |
23/46 |
- |
2 |
16-2103528-G-A |
c.8529C>T |
p.T2843= |
Synonymous |
23/46 |
- |
2 |
16-2103528-G-C |
c.8529C>G |
p.T2843= |
Synonymous |
23/46 |
- |
1 |
16-2103528-G-T |
c.8529C>A |
p.T2843= |
Synonymous |
23/46 |
- |
1 |
16-2103527-CGGT-C |
c.8527_8529del |
p.T2843del |
InFrameDeletion |
23/46 |
- |
1 |
16-2103542-T-A |
c.8515A>T |
p.I2839F |
Missense |
23/46 |
- |
1 |
16-2103542-T-C |
c.8515A>G |
p.I2839V |
Missense |
23/46 |
- |
3 |
16-2103546-G-A |
c.8511C>T |
p.G2837= |
Synonymous |
23/46 |
- |
1 |
16-2103547-C-G |
c.8510G>C |
p.G2837A |
Missense |
23/46 |
- |
1 |
16-2103548-CA-C |
c.8508del |
p.F2836Lfs*39 |
Frameshift |
23/46 |
- |
2 |
16-2103552-G-A |
c.8505C>T |
p.P2835= |
Synonymous |
23/46 |
- |
4 |
16-2103553-G-A |
c.8504C>T |
p.P2835L |
Missense |
23/46 |
- |
2 |
16-2103554-G-A |
c.8503C>T |
p.P2835S |
Missense |
23/46 |
- |
4 |
16-2103558-G-A |
c.8499C>T |
p.P2833= |
Synonymous |
23/46 |
- |
3 |
16-2103558-G-C |
c.8499C>G |
p.P2833= |
Synonymous |
23/46 |
- |
1 |
16-2103558-G-T |
c.8499C>A |
p.P2833= |
Synonymous |
23/46 |
- |
2 |
16-2103560-G-A |
c.8497C>T |
p.P2833S |
Missense |
23/46 |
- |
1 |
16-2103561-A-C |
c.8496T>G |
p.N2832K |
Missense |
23/46 |
- |
1 |
16-2103561-A-T |
c.8496T>A |
p.N2832K |
Missense |
23/46 |
- |
2 |
16-2103562-T-C |
c.8495A>G |
p.N2832S |
Missense |
23/46 |
- |
1 |
16-2103574-A-G |
c.8483T>C |
p.L2828P |
Missense |
23/46 |
- |
1 |
16-2103579-G-C |
c.8478C>G |
p.I2826M |
Missense |
23/46 |
- |
4 |
16-2103580-A-G |
c.8477T>C |
p.I2826T |
Missense |
23/46 |
- |
2 |
16-2103584-G-A |
c.8473C>T |
p.L2825F |
Missense |
23/46 |
- |
2 |
16-2103585-C-T |
c.8472G>A |
p.Q2824= |
Synonymous |
23/46 |
- |
1 |
16-2103586-T-G |
c.8471A>C |
p.Q2824P |
Missense |
23/46 |
- |
1 |
16-2103587-G-A |
c.8470C>T |
p.Q2824* |
Nonsense |
23/46 |
- |
1 |
16-2103587-G-T |
c.8470C>A |
p.Q2824K |
Missense |
23/46 |
- |
1 |
16-2103593-C-T |
c.8464G>A |
p.V2822M |
Missense |
23/46 |
- |
4 |
16-2103594-G-A |
c.8463C>T |
p.D2821= |
Synonymous |
23/46 |
- |
1 |
16-2103594-G-T |
c.8463C>A |
p.D2821E |
Missense |
23/46 |
- |
2 |
16-2103598-C-A |
c.8459G>T |
p.S2820I |
Missense |
23/46 |
- |
2 |
16-2103604-T-C |
c.8453A>G |
p.N2818S |
Missense |
23/46 |
- |
1 |
16-2103606-G-T |
c.8451C>A |
p.A2817= |
Synonymous |
23/46 |
- |
1 |
16-2103607-G-A |
c.8450C>T |
p.A2817V |
Missense |
23/46 |
- |
1 |
16-2103608-C-T |
c.8449G>A |
p.A2817T |
Missense |
23/46 |
- |
1 |
16-2103610-A-G |
c.8447T>C |
p.L2816P |
Missense |
23/46 |
- |
7 |
16-2103610-A-T |
c.8447T>A |
p.L2816Q |
Missense |
23/46 |
- |
1 |
16-2103613-G-A |
c.8444C>T |
p.A2815V |
Missense |
23/46 |
- |
5 |
16-2103617-C-G |
c.8440G>C |
p.G2814R |
Missense |
23/46 |
- |
2 |
16-2103617-C-T |
c.8440G>A |
p.G2814R |
Missense |
23/46 |
- |
12 |
16-2103618-G-A |
c.8439C>T |
p.S2813= |
Synonymous |
23/46 |
- |
5 |
16-2103621-G-A |
c.8436C>T |
p.F2812= |
Synonymous |
23/46 |
- |
3 |
16-2103628-CTCGG-C |
c.8426_8429del |
p.P2809Rfs*65 |
Frameshift |
23/46 |
- |
1 |
16-2103629-C-A |
c.8428G>T |
p.E2810* |
Nonsense |
23/46 |
- |
3 |
16-2103629-C-T |
c.8428G>A |
p.E2810K |
Missense |
23/46 |
- |
1 |
16-2103629-TCGG-T |
c.8426_8428del |
p.P2809_E2810delinsQ |
MultiAAMissense |
23/46 |
- |
1 |
16-2103630-G-A |
c.8427C>T |
p.P2809= |
Synonymous |
23/46 |
- |
1 |
16-2103631-G-A |
c.8426C>T |
p.P2809L |
Missense |
23/46 |
- |
2 |
16-2103632-G-A |
c.8425C>T |
p.P2809S |
Missense |
23/46 |
- |
5 |
16-2103629-CG-C |
c.8427del |
p.E2810Rfs*65 |
Frameshift |
23/46 |
- |
2 |
16-2103633-G-A |
c.8424C>T |
p.I2808= |
Synonymous |
23/46 |
- |
2 |
16-2103636-G-A |
c.8421C>T |
p.S2807= |
Synonymous |
23/46 |
- |
3 |
16-2103635-T-TG |
c.8421dup |
p.I2808Hfs*14 |
Frameshift |
23/46 |
- |
1 |
16-2103639-G-A |
c.8418C>T |
p.F2806= |
Synonymous |
23/46 |
- |
1 |
16-2103640-A-G |
c.8417T>C |
p.F2806S |
Missense |
23/46 |
- |
1 |
16-2103646-C-A |
c.8411G>T |
p.C2804F |
Missense |
23/46 |
- |
1 |
16-2103646-C-T |
c.8411G>A |
p.C2804Y |
Missense |
23/46 |
- |
1 |
16-2103648-G-A |
c.8409C>T |
p.G2803= |
Synonymous |
23/46 |
- |
3 |
16-2103649-C-A |
c.8408G>T |
p.G2803V |
Missense |
23/46 |
- |
4 |
16-2103652-G-A |
c.8405C>T |
p.P2802L |
Missense |
23/46 |
- |
3 |
16-2103653-G-A |
c.8404C>T |
p.P2802S |
Missense |
23/46 |
- |
1 |
16-2103653-G-T |
c.8404C>A |
p.P2802T |
Missense |
23/46 |
- |
1 |
16-2103660-G-A |
c.8397C>T |
p.A2799= |
Synonymous |
23/46 |
- |
2 |
16-2103660-G-C |
c.8397C>G |
p.A2799= |
Synonymous |
23/46 |
- |
2 |
16-2103660-G-T |
c.8397C>A |
p.A2799= |
Synonymous |
23/46 |
- |
2 |
16-2103663-G-A |
c.8394C>T |
p.G2798= |
Synonymous |
23/46 |
- |
1 |
16-2103663-G-C |
c.8394C>G |
p.G2798= |
Synonymous |
23/46 |
- |
1 |
16-2103663-G-T |
c.8394C>A |
p.G2798= |
Synonymous |
23/46 |
- |
1 |
16-2103665-C-T |
c.8392G>A |
p.G2798S |
Missense |
23/46 |
- |
1 |
16-2103666-G-A |
c.8391C>T |
p.G2797= |
Synonymous |
23/46 |
- |
2 |
16-2103669-A-T |
c.8388T>A |
p.Y2796* |
Nonsense |
23/46 |
- |
1 |
16-2103672-G-A |
c.8385C>T |
p.C2795= |
Synonymous |
23/46 |
- |
1 |
16-2103672-G-T |
c.8385C>A |
p.C2795* |
Nonsense |
23/46 |
- |
2 |
16-2103676-A-G |
c.8381T>C |
p.L2794P |
Missense |
23/46 |
- |
1 |
16-2103680-G-C |
c.8377C>G |
p.L2793V |
Missense |
23/46 |
- |
2 |
16-2103683-CTCCGCGG-C |
c.8368_8374del |
p.P2790Afs*83 |
Frameshift |
23/46 |
- |
1 |
16-2103684-C-T |
c.8373G>A |
p.R2791= |
Synonymous |
23/46 |
- |
1 |
16-2103685-C-A |
c.8372G>T |
p.R2791L |
Missense |
23/46 |
- |
1 |
16-2103685-C-T |
c.8372G>A |
p.R2791Q |
Missense |
23/46 |
- |
5 |
16-2103687-C-A |
c.8370G>T |
p.P2790= |
Synonymous |
23/46 |
- |
1 |
16-2103687-C-G |
c.8370G>C |
p.P2790= |
Synonymous |
23/46 |
- |
1 |
16-2103687-C-T |
c.8370G>A |
p.P2790= |
Synonymous |
23/46 |
- |
2 |
16-2103688-G-A |
c.8369C>T |
p.P2790L |
Missense |
23/46 |
- |
1 |
16-2103689-G-A |
c.8368C>T |
p.P2790S |
Missense |
23/46 |
- |
2 |
16-2103687-CG-C |
c.8369del |
p.P2790Rfs*85 |
Frameshift |
23/46 |
- |
2 |
16-2103693-C-A |
c.8364G>T |
p.S2788= |
Synonymous |
23/46 |
- |
2 |
16-2103693-C-T |
c.8364G>A |
p.S2788= |
Synonymous |
23/46 |
- |
4 |
16-2103694-G-A |
c.8363C>T |
p.S2788L |
Missense |
23/46 |
- |
1 |
16-2103694-G-C |
c.8363C>G |
p.S2788W |
Missense |
23/46 |
- |
2 |
16-2103697-C-G |
c.8360G>C |
p.R2787P |
Missense |
23/46 |
- |
1 |
16-2103697-C-T |
c.8360G>A |
p.R2787H |
Missense |
23/46 |
- |
1 |
16-2103698-G-A |
c.8359C>T |
p.R2787C |
Missense |
23/46 |
- |
1 |
16-2103698-G-C |
c.8359C>G |
p.R2787G |
Missense |
23/46 |
- |
1 |
16-2103702-G-A |
c.8355C>T |
p.G2785= |
Synonymous |
23/46 |
- |
1 |
16-2103702-G-C |
c.8355C>G |
p.G2785= |
Synonymous |
23/46 |
- |
1 |
16-2103702-G-T |
c.8355C>A |
p.G2785= |
Synonymous |
23/46 |
- |
1 |
16-2103703-C-T |
c.8354G>A |
p.G2785D |
Missense |
23/46 |
- |
3 |
16-2103704-C-G |
c.8353G>C |
p.G2785R |
Missense |
23/46 |
- |
1 |
16-2103705-C-CG |
c.8351_8352insC |
p.Q2784Hfs*38 |
Frameshift |
23/46 |
- |
1 |
16-2103705-CCT-C |
c.8351_8352del |
p.Q2784Rfs*37 |
Frameshift |
23/46 |
- |
1 |
16-2103706-T-C |
c.8351A>G |
p.Q2784R |
Missense |
23/46 |
- |
2 |
16-2103707-G-A |
c.8350C>T |
p.Q2784* |
Nonsense |
23/46 |
- |
1 |
16-2103710-C-G |
c.8347G>C |
p.A2783P |
Missense |
23/46 |
- |
2 |
16-2103713-C-T |
c.8344G>A |
p.V2782M |
Missense |
23/46 |
- |
6 |
16-2103714-G-A |
c.8343C>T |
p.I2781= |
Synonymous |
23/46 |
- |
1 |
16-2103719-C-A |
c.8338G>T |
p.E2780* |
Nonsense |
23/46 |
- |
1 |
16-2103722-C-T |
c.8335G>A |
p.E2779K |
Missense |
23/46 |
- |
5 |
16-2103723-G-A |
c.8334C>T |
p.G2778= |
Synonymous |
23/46 |
- |
1 |
16-2103723-G-GC |
c.8333dup |
p.E2779Rfs*43 |
Frameshift |
23/46 |
- |
1 |
16-2103730-A-G |
c.8327T>C |
p.L2776P |
Missense |
23/46 |
- |
1 |
16-2103732-C-G |
c.8325G>C |
p.T2775= |
Synonymous |
23/46 |
- |
2 |
16-2103732-C-T |
c.8325G>A |
p.T2775= |
Synonymous |
23/46 |
- |
1 |
16-2103736-A-G |
c.8321T>C |
p.L2774P |
Missense |
23/46 |
- |
1 |
16-2103740-G-A |
c.8317C>T |
p.P2773S |
Missense |
23/46 |
- |
1 |
16-2103746-C-T |
c.8311G>A |
p.E2771K |
Missense |
23/46 |
- |
35 |
16-2103748-GTTGAGCA-G |
c.8303_8309del |
p.V2768Afs*5 |
Frameshift |
23/46 |
- |
1 |
16-2103748-T-A |
c.8309A>T |
p.N2770I |
Missense |
23/46 |
- |
1 |
16-2103750-G-A |
c.8307C>T |
p.L2769= |
Synonymous |
23/46 |
- |
1 |
16-2103750-G-C |
c.8307C>G |
p.L2769= |
Synonymous |
23/46 |
- |
1 |
16-2103750-G-T |
c.8307C>A |
p.L2769= |
Synonymous |
23/46 |
- |
1 |
16-2103752-G-A |
c.8305C>T |
p.L2769F |
Missense |
23/46 |
- |
1 |
16-2103748-TTGAGCACGCGGGAGCGCA-T |
c.8291_8308del |
p.M2764_L2769del |
InFrameDeletion |
23/46 |
- |
1 |
16-2103751-AGCAC-A |
c.8302_8305del |
p.V2768Sfs*6 |
Frameshift |
23/46 |
- |
1 |
16-2103755-C-A |
c.8302G>T |
p.V2768L |
Missense |
23/46 |
- |
1 |
16-2103755-C-T |
c.8302G>A |
p.V2768M |
Missense |
23/46 |
- |
9 |
16-2103757-C-G |
c.8300G>C |
p.R2767P |
Missense |
23/46 |
- |
1 |
16-2103757-C-T |
c.8300G>A |
p.R2767H |
Missense |
23/46 |
- |
1 |
16-2103758-G-A |
c.8299C>T |
p.R2767C |
Missense |
23/46 |
- |
7 |
16-2103758-G-C |
c.8299C>G |
p.R2767G |
Missense |
23/46 |
- |
1 |
16-2103759-G-A |
c.8298C>T |
p.S2766= |
Synonymous |
23/46 |
- |
1 |
16-2103759-G-C |
c.8298C>G |
p.S2766= |
Synonymous |
23/46 |
- |
2 |
16-2103759-G-T |
c.8298C>A |
p.S2766= |
Synonymous |
23/46 |
- |
1 |
16-2103758-GGGA-G |
c.8296_8298del |
p.S2766del |
InFrameDeletion |
23/46 |
- |
1 |
16-2103762-G-A |
c.8295C>T |
p.R2765= |
Synonymous |
23/46 |
- |
1 |
16-2103762-G-C |
c.8295C>G |
p.R2765= |
Synonymous |
23/46 |
- |
1 |
16-2103762-G-T |
c.8295C>A |
p.R2765= |
Synonymous |
23/46 |
- |
1 |
16-2103763-C-A |
c.8294G>T |
p.R2765L |
Missense |
23/46 |
- |
1 |
16-2103763-C-T |
c.8294G>A |
p.R2765H |
Missense |
23/46 |
- |
4 |
16-2103764-G-A |
c.8293C>T |
p.R2765C |
Missense |
23/46 |
- |
26 |
16-2103764-G-C |
c.8293C>G |
p.R2765G |
Missense |
23/46 |
- |
3 |
16-2103766-A-G |
c.8291T>C |
p.M2764T |
Missense |
23/46 |
- |
7 |
16-2103769-A-G |
c.8288T>C |
p.L2763P |
Missense |
23/46 |
- |
1 |
16-2103770-G-C |
c.8287C>G |
p.L2763V |
Missense |
23/46 |
- |
2 |
16-2103772-GA-G |
c.8285del |
p.I2762Tfs*13 |
Frameshift |
23/46 |
- |
1 |
16-2103775-C-G |
c.8282G>C |
p.R2761P |
Missense |
23/46 |
- |
4 |
16-2103775-C-T |
c.8282G>A |
p.R2761H |
Missense |
23/46 |
- |
2 |
16-2103777-C-A |
c.8280G>T |
p.M2760I |
Missense |
23/46 |
- |
1 |
16-2103777-C-G |
c.8280G>C |
p.M2760I |
Missense |
23/46 |
- |
1 |
16-2103777-C-T |
c.8280G>A |
p.M2760I |
Missense |
23/46 |
- |
1 |
16-2103778-A-C |
c.8279T>G |
p.M2760R |
Missense |
23/46 |
- |
1 |
16-2103778-A-G |
c.8279T>C |
p.M2760T |
Missense |
23/46 |
- |
5 |
16-2103778-A-T |
c.8279T>A |
p.M2760K |
Missense |
23/46 |
- |
1 |
16-2103787-G-C |
c.8270C>G |
p.S2757C |
Missense |
23/46 |
- |
2 |
16-2103790-G-A |
c.8267C>T |
p.T2756I |
Missense |
23/46 |
- |
1 |
16-2103796-GTTGT-G |
c.8258_8261del |
p.Y2753Sfs*2 |
Frameshift |
23/46 |
- |
1 |
16-2103798-G-C |
c.8259C>G |
p.Y2753* |
Nonsense |
23/46 |
- |
2 |
16-2103800-A-AGATC |
c.8256_8257insGATC |
p.Y2753Dfs*70 |
Frameshift |
23/46 |
- |
1 |
16-2103802-G-C |
c.8255C>G |
p.A2752G |
Missense |
23/46 |
- |
1 |
16-2103802-G-T |
c.8255C>A |
p.A2752D |
Missense |
23/46 |
- |
5 |
16-2103806-G-A |
c.8251C>T |
p.Q2751* |
Nonsense |
23/46 |
- |
2 |
16-2103807-G-A |
c.8250C>T |
p.S2750= |
Synonymous |
23/46 |
- |
1 |
16-2103807-G-C |
c.8250C>G |
p.S2750= |
Synonymous |
23/46 |
- |
1 |
16-2103807-G-T |
c.8250C>A |
p.S2750= |
Synonymous |
23/46 |
- |
1 |
16-2103810-C-A |
c.8247G>T |
p.A2749= |
Synonymous |
23/46 |
- |
1 |
16-2103810-C-G |
c.8247G>C |
p.A2749= |
Synonymous |
23/46 |
- |
1 |
16-2103810-C-T |
c.8247G>A |
p.A2749= |
Synonymous |
23/46 |
- |
4 |
16-2103815-C-T |
c.8242G>A |
p.V2748M |
Missense |
23/46 |
- |
1 |
16-2103817-A-G |
c.8240T>C |
p.M2747T |
Missense |
23/46 |
- |
1 |
16-2103820-C-A |
c.8237G>T |
p.R2746L |
Missense |
23/46 |
- |
1 |
16-2103820-C-G |
c.8237G>C |
p.R2746P |
Missense |
23/46 |
- |
4 |
16-2103833-C-A |
c.8224G>T |
p.E2742* |
Nonsense |
23/46 |
- |
1 |
16-2103833-C-T |
c.8224G>A |
p.E2742K |
Missense |
23/46 |
- |
4 |
16-2103837-T-C |
c.8220A>G |
p.G2740= |
Synonymous |
23/46 |
- |
1 |
16-2103838-C-T |
c.8219G>A |
p.G2740E |
Missense |
23/46 |
- |
1 |
16-2103837-T-TC |
c.8219dup |
p.A2741Sfs*81 |
Frameshift |
23/46 |
- |
1 |
16-2103840-C-A |
c.8217G>T |
p.L2739= |
Synonymous |
23/46 |
- |
2 |
16-2103840-C-G |
c.8217G>C |
p.L2739= |
Synonymous |
23/46 |
- |
2 |
16-2103840-C-T |
c.8217G>A |
p.L2739= |
Synonymous |
23/46 |
- |
2 |
16-2103842-G-A |
c.8215C>T |
p.L2739= |
Synonymous |
23/46 |
- |
3 |
16-2103845-C-A |
c.8212G>T |
p.E2738* |
Nonsense |
23/46 |
- |
1 |
16-2103845-C-G |
c.8212G>C |
p.E2738Q |
Missense |
23/46 |
- |
2 |
16-2103847-G-A |
c.8210C>T |
p.S2737L |
Missense |
23/46 |
- |
4 |
16-2103847-G-C |
c.8210C>G |
p.S2737* |
Nonsense |
23/46 |
- |
1 |
16-2103850-G-C |
c.8207C>G |
p.P2736R |
Missense |
23/46 |
- |
2 |
16-2103853-T-A |
c.8204A>T |
p.Q2735L |
Missense |
23/46 |
- |
3 |
16-2103855-T-C |
c.8202A>G |
p.P2734= |
Synonymous |
23/46 |
- |
1 |
16-2103857-G-T |
c.8200C>A |
p.P2734T |
Missense |
23/46 |
- |
3 |
16-2103862-C-T |
c.8195G>A |
p.R2732Q |
Missense |
23/46 |
- |
1 |
16-2103863-G-A |
c.8194C>T |
p.R2732W |
Missense |
23/46 |
- |
2 |
16-2103866-C-T |
c.8191G>A |
p.V2731M |
Missense |
23/46 |
- |
1 |
16-2103868-T-C |
c.8189A>G |
p.D2730G |
Missense |
23/46 |
- |
1 |
16-2103870-C-A |
c.8187G>T |
p.S2729= |
Synonymous |
23/46 |
- |
1 |
16-2103870-C-T |
c.8187G>A |
p.S2729= |
Synonymous |
23/46 |
- |
3 |
16-2103871-G-T |
c.8186C>A |
p.S2729* |
Nonsense |
23/46 |
- |
1 |
16-2103872-A-G |
c.8185T>C |
p.S2729P |
Missense |
23/46 |
- |
1 |
16-2103878-C-T |
c.8179G>A |
p.A2727T |
Missense |
23/46 |
- |
1 |
16-2103880-A-G |
c.8177T>C |
p.L2726P |
Missense |
23/46 |
- |
1 |
16-2103932-G-A |
c.8162-37C>T |
- |
IntronicSNV |
- |
22/45 |
2 |
16-2103932-G-C |
c.8162-37C>G |
- |
IntronicSNV |
- |
22/45 |
2 |
16-2104453-G-A |
c.8161+45C>T |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104453-G-T |
c.8161+45C>A |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104457-G-A |
c.8161+41C>T |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104459-A-G |
c.8161+39T>C |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104460-C-A |
c.8161+38G>T |
- |
IntronicSNV |
- |
22/45 |
4 |
16-2104460-C-G |
c.8161+38G>C |
- |
IntronicSNV |
- |
22/45 |
4 |
16-2104460-C-T |
c.8161+38G>A |
- |
IntronicSNV |
- |
22/45 |
7 |
16-2104467-G-A |
c.8161+31C>T |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104468-G-C |
c.8161+30C>G |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104469-C-T |
c.8161+29G>A |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104469-GC-G |
c.8161+29del |
- |
IntronicDeletion |
- |
22/45 |
1 |
16-2104473-T-C |
c.8161+25A>G |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104474-G-C |
c.8161+24C>G |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104475-G-A |
c.8161+23C>T |
- |
IntronicSNV |
- |
22/45 |
2 |
16-2104477-A-C |
c.8161+21T>G |
- |
IntronicSNV |
- |
22/45 |
7 |
16-2104477-A-G |
c.8161+21T>C |
- |
IntronicSNV |
- |
22/45 |
12 |
16-2104486-G-A |
c.8161+12C>T |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104490-C-T |
c.8161+8G>A |
- |
IntronicSNV |
- |
22/45 |
2 |
16-2104497-C-G |
c.8161+1G>C |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104497-C-T |
c.8161+1G>A |
- |
IntronicSNV |
- |
22/45 |
1 |
16-2104499-CTGT-C |
c.8158_8160del |
p.T2720del |
InFrameDeletion |
22/46 |
- |
1 |
16-2104501-T-G |
c.8158A>C |
p.T2720P |
Missense |
22/46 |
- |
1 |
16-2104502-G-A |
c.8157C>T |
p.I2719= |
Synonymous |
22/46 |
- |
2 |
16-2104513-T-G |
c.8146A>C |
p.I2716L |
Missense |
22/46 |
- |
1 |
16-2104515-C-A |
c.8144G>T |
p.S2715I |
Missense |
22/46 |
- |
1 |
16-2104515-C-T |
c.8144G>A |
p.S2715N |
Missense |
22/46 |
- |
1 |
16-2104517-G-A |
c.8142C>T |
p.D2714= |
Synonymous |
22/46 |
- |
1 |
16-2104522-C-G |
c.8137G>C |
p.G2713R |
Missense |
22/46 |
- |
1 |
16-2104522-C-T |
c.8137G>A |
p.G2713R |
Missense |
22/46 |
- |
1 |
16-2104523-G-A |
c.8136C>T |
p.I2712= |
Synonymous |
22/46 |
- |
1 |
16-2104523-G-T |
c.8136C>A |
p.I2712= |
Synonymous |
22/46 |
- |
1 |
16-2104530-G-A |
c.8129C>T |
p.T2710I |
Missense |
22/46 |
- |
1 |
16-2104530-G-T |
c.8129C>A |
p.T2710N |
Missense |
22/46 |
- |
2 |
16-2104531-TGGGC-T |
c.8124_8127del |
p.T2710Pfs*45 |
Frameshift |
22/46 |
- |
1 |
16-2104536-G-A |
c.8123C>T |
p.T2708M |
Missense |
22/46 |
- |
14 |
16-2104540-C-T |
c.8119G>A |
p.V2707M |
Missense |
22/46 |
- |
1 |
16-2104542-G-A |
c.8117C>T |
p.T2706I |
Missense |
22/46 |
- |
3 |
16-2104547-C-T |
c.8112G>A |
p.A2704= |
Synonymous |
22/46 |
- |
1 |
16-2104548-G-A |
c.8111C>T |
p.A2704V |
Missense |
22/46 |
- |
6 |
16-2104549-C-G |
c.8110G>C |
p.A2704P |
Missense |
22/46 |
- |
2 |
16-2104549-C-T |
c.8110G>A |
p.A2704T |
Missense |
22/46 |
- |
2 |
16-2104554-G-A |
c.8105C>T |
p.T2702I |
Missense |
22/46 |
- |
1 |
16-2104554-G-T |
c.8105C>A |
p.T2702N |
Missense |
22/46 |
- |
1 |
16-2104559-T-C |
c.8100A>G |
p.A2700= |
Synonymous |
22/46 |
- |
1 |
16-2104560-G-A |
c.8099C>T |
p.A2700V |
Missense |
22/46 |
- |
1 |
16-2104564-G-A |
c.8095C>T |
p.Q2699* |
Nonsense |
22/46 |
- |
5 |
16-2104566-A-G |
c.8093T>C |
p.L2698P |
Missense |
22/46 |
- |
1 |
16-2104571-G-A |
c.8088C>T |
p.L2696= |
Synonymous |
22/46 |
- |
1 |
16-2104571-G-C |
c.8088C>G |
p.L2696= |
Synonymous |
22/46 |
- |
1 |
16-2104571-G-T |
c.8088C>A |
p.L2696= |
Synonymous |
22/46 |
- |
1 |
16-2104572-A-C |
c.8087T>G |
p.L2696R |
Missense |
22/46 |
- |
16 |
16-2104582-C-T |
c.8077G>A |
p.A2693T |
Missense |
22/46 |
- |
2 |
16-2104583-C-T |
c.8076G>A |
p.E2692= |
Synonymous |
22/46 |
- |
1 |
16-2104591-T-A |
c.8068A>T |
p.K2690* |
Nonsense |
22/46 |
- |
1 |
16-2104592-G-C |
c.8067C>G |
p.H2689Q |
Missense |
22/46 |
- |
1 |
16-2104594-G-A |
c.8065C>T |
p.H2689Y |
Missense |
22/46 |
- |
1 |
16-2104598-C-T |
c.8061G>A |
p.T2687= |
Synonymous |
22/46 |
- |
1 |
16-2104603-G-A |
c.8056C>T |
p.Q2686* |
Nonsense |
22/46 |
- |
2 |
16-2104605-T-A |
c.8054A>T |
p.K2685M |
Missense |
22/46 |
- |
1 |
16-2104605-T-C |
c.8054A>G |
p.K2685R |
Missense |
22/46 |
- |
1 |
16-2104613-C-T |
c.8046G>A |
p.S2682= |
Synonymous |
22/46 |
- |
1 |
16-2104618-G-A |
c.8041C>T |
p.R2681C |
Missense |
22/46 |
- |
3 |
16-2104625-G-A |
c.8034C>T |
p.L2678= |
Synonymous |
22/46 |
- |
1 |
16-2104627-G-A |
c.8032C>T |
p.L2678F |
Missense |
22/46 |
- |
2 |
16-2104628-C-A |
c.8031G>T |
p.E2677D |
Missense |
22/46 |
- |
1 |
16-2104628-C-G |
c.8031G>C |
p.E2677D |
Missense |
22/46 |
- |
1 |
16-2104632-C-A |
c.8027G>T |
p.R2676M |
Missense |
22/46 |
- |
3 |
16-2104632-C-G |
c.8027G>C |
p.R2676T |
Missense |
22/46 |
- |
2 |
16-2104635-C-G |
c.8024G>C |
p.S2675T |
Missense |
22/46 |
- |
1 |
16-2104638-G-GACA |
c.8020_8021insTGT |
p.P2674delinsLS |
MultiAAMissense |
22/46 |
- |
1 |
16-2104639-G-A |
c.8020C>T |
p.P2674S |
Missense |
22/46 |
- |
14 |
16-2104642-C-G |
c.8017G>C |
p.G2673R |
Missense |
22/46 |
- |
1 |
16-2104639-GC-G |
c.8019del |
- |
Frameshift |
- |
21/45 |
1 |
16-2104734-C-T |
c.8017-92G>A |
- |
IntronicSNV |
- |
21/45 |
1 |
16-2105042-G-A |
c.8016+280C>T |
- |
IntronicSNV |
- |
21/45 |
1 |
16-2105188-G-T |
c.8016+134C>A |
- |
IntronicSNV |
- |
21/45 |
1 |
16-2105245-G-A |
c.8016+77C>T |
- |
IntronicSNV |
- |
21/45 |
1 |
16-2105251-C-T |
c.8016+71G>A |
- |
IntronicSNV |
- |
21/45 |
2 |
16-2105261-G-A |
c.8016+61C>T |
- |
IntronicSNV |
- |
21/45 |
1 |
16-2105274-T-C |
c.8016+48A>G |
- |
IntronicSNV |
- |
21/45 |
1 |
16-2105276-C-T |
c.8016+46G>A |
- |
IntronicSNV |
- |
21/45 |
1 |
16-2105296-A-G |
c.8016+26T>C |
- |
IntronicSNV |
- |
21/45 |
4 |
16-2105308-TG-T |
c.8016+13del |
- |
IntronicDeletion |
- |
21/45 |
1 |
16-2105321-C-T |
c.8016+1G>A |
- |
IntronicSNV |
- |
21/45 |
1 |
16-2105320-AC-A |
c.8016+1del |
- |
IntronicDeletion |
21/46 |
- |
1 |
16-2105329-T-C |
c.8009A>G |
p.Q2670R |
Missense |
21/46 |
- |
1 |
16-2105332-G-A |
c.8006C>T |
p.A2669V |
Missense |
21/46 |
- |
1 |
16-2105335-A-G |
c.8003T>C |
p.L2668P |
Missense |
21/46 |
- |
1 |
16-2105338-G-T |
c.8000C>A |
p.A2667E |
Missense |
21/46 |
- |
1 |
16-2105339-C-G |
c.7999G>C |
p.A2667P |
Missense |
21/46 |
- |
1 |
16-2105345-C-G |
c.7993G>C |
p.A2665P |
Missense |
21/46 |
- |
1 |
16-2105351-G-A |
c.7987C>T |
p.Q2663* |
Nonsense |
21/46 |
- |
2 |
16-2105352-C-CT |
c.7985dup |
p.Q2663Afs*159 |
Frameshift |
21/46 |
- |
1 |
16-2105354-G-A |
c.7984C>T |
p.Q2662* |
Nonsense |
21/46 |
- |
3 |
16-2105353-TG-T |
c.7984del |
p.Q2662Sfs*23 |
Frameshift |
21/46 |
- |
1 |
16-2105356-A-C |
c.7982T>G |
p.I2661S |
Missense |
21/46 |
- |
1 |
16-2105358-G-A |
c.7980C>T |
p.D2660= |
Synonymous |
21/46 |
- |
1 |
16-2105359-T-A |
c.7979A>T |
p.D2660V |
Missense |
21/46 |
- |
1 |
16-2105360-C-A |
c.7978G>T |
p.D2660Y |
Missense |
21/46 |
- |
2 |
16-2105360-C-T |
c.7978G>A |
p.D2660N |
Missense |
21/46 |
- |
1 |
16-2105363-CCACAGTGTGGACCCTCAGGGACA-C |
c.7952_7974del |
p.V2651Gfs*2 |
Frameshift |
21/46 |
- |
1 |
16-2105363-CCA-C |
c.7973_7974del |
p.V2658Gfs*2 |
Frameshift |
21/46 |
- |
1 |
16-2105369-T-G |
c.7969A>C |
p.T2657P |
Missense |
21/46 |
- |
1 |
16-2105369-T-TTGGACCCTCA |
c.7968_7969insTGAGGGTCCA |
p.T2657* |
Nonsense |
21/46 |
- |
1 |
16-2105370-G-GGGACCCTCA |
c.7967_7968insTGAGGGTCC |
p.H2656_T2657insEGP |
InFrameInsertion |
21/46 |
- |
1 |
16-2105377-CT-GG |
c.7960_7961delinsCC |
p.R2654P |
Missense |
21/46 |
- |
1 |
16-2105377-CT-TG |
c.7960_7961delinsCA |
p.R2654Q |
Missense |
21/46 |
- |
1 |
16-2105378-T-C |
c.7960A>G |
p.R2654G |
Missense |
21/46 |
- |
3 |
16-2105379-C-A |
c.7959G>T |
p.L2653= |
Synonymous |
21/46 |
- |
1 |
16-2105379-C-G |
c.7959G>C |
p.L2653= |
Synonymous |
21/46 |
- |
1 |
16-2105379-C-T |
c.7959G>A |
p.L2653= |
Synonymous |
21/46 |
- |
1 |
16-2105381-G-A |
c.7957C>T |
p.L2653= |
Synonymous |
21/46 |
- |
1 |
16-2105381-G-C |
c.7957C>G |
p.L2653V |
Missense |
21/46 |
- |
1 |
16-2105385-CACCAG-C |
c.7948_7952del |
p.L2650Vfs*9 |
Frameshift |
21/46 |
- |
1 |
16-2105388-CAG-C |
c.7948_7949del |
p.L2650Gfs*10 |
Frameshift |
21/46 |
- |
3 |
16-2105392-G-A |
c.7946C>T |
p.T2649I |
Missense |
21/46 |
- |
2 |
16-2105397-C-T |
c.7941G>A |
p.T2647= |
Synonymous |
21/46 |
- |
1 |
16-2105398-G-A |
c.7940C>T |
p.T2647M |
Missense |
21/46 |
- |
1 |
16-2105399-T-G |
c.7939A>C |
p.T2647P |
Missense |
21/46 |
- |
1 |
16-2105401-A-G |
c.7937T>C |
p.I2646T |
Missense |
21/46 |
- |
3 |
16-2105410-C-G |
c.7928G>C |
p.R2643P |
Missense |
21/46 |
- |
1 |
16-2105411-CG-C |
c.7927del |
p.R2643Afs*11 |
Frameshift |
21/46 |
- |
2 |
16-2105411-G-A |
c.7927C>T |
p.R2643C |
Missense |
21/46 |
- |
5 |
16-2105417-G-A |
c.7921C>T |
p.Q2641* |
Nonsense |
21/46 |
- |
2 |
16-2105419-G-A |
c.7919C>T |
p.A2640V |
Missense |
21/46 |
- |
1 |
16-2105420-C-A |
c.7918G>T |
p.A2640S |
Missense |
21/46 |
- |
1 |
16-2105420-C-T |
c.7918G>A |
p.A2640T |
Missense |
21/46 |
- |
1 |
16-2105422-C-T |
c.7916G>A |
p.R2639Q |
Missense |
21/46 |
- |
1 |
16-2105421-T-A |
c.7917A>T |
p.R2639= |
Synonymous |
21/46 |
- |
1 |
16-2105421-T-C |
c.7917A>G |
p.R2639= |
Synonymous |
21/46 |
- |
1 |
16-2105421-T-G |
c.7917A>C |
p.R2639= |
Synonymous |
21/46 |
- |
1 |
16-2105423-G-A |
c.7915C>T |
p.R2639* |
Nonsense |
21/46 |
- |
6 |
16-2105423-G-T |
c.7915C>A |
p.R2639= |
Synonymous |
21/46 |
- |
1 |
16-2105422-C-CG |
c.7915dup |
p.R2639Pfs*22 |
Frameshift |
21/46 |
- |
1 |
16-2105425-T-C |
c.7913A>G |
p.H2638R |
Missense |
21/46 |
- |
13 |
16-2105426-G-A |
c.7912C>T |
p.H2638Y |
Missense |
21/46 |
- |
1 |
16-2105429-G-A |
c.7909C>T |
p.Q2637* |
Nonsense |
21/46 |
- |
2 |
16-2105432-G-A |
c.7906C>T |
p.R2636W |
Missense |
21/46 |
- |
1 |
16-2105433-C-T |
c.7905G>A |
p.E2635= |
Synonymous |
21/46 |
- |
1 |
16-2105434-T-A |
c.7904A>T |
p.E2635V |
Missense |
21/46 |
- |
1 |
16-2105444-G-A |
c.7894C>T |
p.P2632S |
Missense |
21/46 |
- |
1 |
16-2105449-G-A |
c.7889C>T |
p.A2630V |
Missense |
21/46 |
- |
1 |
16-2105451-C-CG |
c.7886dup |
p.A2630Gfs*31 |
Frameshift |
21/46 |
- |
1 |
16-2105453-C-T |
c.7885G>A |
p.A2629T |
Missense |
21/46 |
- |
2 |
16-2105463-G-T |
c.7875C>A |
p.A2625= |
Synonymous |
21/46 |
- |
2 |
16-2105461-AG-A |
c.7876del |
p.L2626Wfs*28 |
Frameshift |
21/46 |
- |
1 |
16-2105466-C-A |
c.7872G>T |
p.R2624= |
Synonymous |
21/46 |
- |
1 |
16-2105466-CCG-GAT |
c.7870_7872delinsATC |
p.R2624I |
Missense |
21/46 |
- |
1 |
16-2105471-C-A |
c.7867G>T |
p.E2623* |
Nonsense |
21/46 |
- |
2 |
16-2105472-G-A |
c.7866C>T |
p.Y2622= |
Synonymous |
21/46 |
- |
2 |
16-2105472-G-C |
c.7866C>G |
p.Y2622* |
Nonsense |
21/46 |
- |
2 |
16-2105472-G-T |
c.7866C>A |
p.Y2622* |
Nonsense |
21/46 |
- |
1 |
16-2105760-C-T |
c.7863+105G>A |
- |
IntronicSNV |
- |
20/45 |
1 |
16-2105771-G-A |
c.7863+94C>T |
- |
IntronicSNV |
- |
20/45 |
1 |
16-2105798-G-A |
c.7863+67C>T |
- |
IntronicSNV |
- |
20/45 |
1 |
16-2105818-A-C |
c.7863+47T>G |
- |
IntronicSNV |
- |
20/45 |
3 |
16-2105864-C-A |
c.7863+1G>T |
- |
IntronicSNV |
- |
20/45 |
2 |
16-2105865-CCTCGT-C |
c.7859_7863del |
p.N2620Ifs*39 |
SpliceDonorDeletion |
20/46 |
- |
1 |
16-2105867-C-T |
c.7861G>A |
p.E2621K |
Missense |
20/46 |
- |
1 |
16-2105869-T-C |
c.7859A>G |
p.N2620S |
Missense |
20/46 |
- |
4 |
16-2105871-C-A |
c.7857G>T |
p.L2619= |
Synonymous |
20/46 |
- |
1 |
16-2105871-C-G |
c.7857G>C |
p.L2619= |
Synonymous |
20/46 |
- |
1 |
16-2105871-C-T |
c.7857G>A |
p.L2619= |
Synonymous |
20/46 |
- |
1 |
16-2105873-G-A |
c.7855C>T |
p.L2619= |
Synonymous |
20/46 |
- |
1 |
16-2105872-A-C |
c.7856T>G |
p.L2619R |
Missense |
20/46 |
- |
1 |
16-2105872-A-G |
c.7856T>C |
p.L2619P |
Missense |
20/46 |
- |
2 |
16-2105875-A-T |
c.7853T>A |
p.V2618E |
Missense |
20/46 |
- |
1 |
16-2105876-C-T |
c.7852G>A |
p.V2618M |
Missense |
20/46 |
- |
1 |
16-2105877-G-A |
c.7851C>T |
p.T2617= |
Synonymous |
20/46 |
- |
2 |
16-2105877-G-C |
c.7851C>G |
p.T2617= |
Synonymous |
20/46 |
- |
1 |
16-2105877-G-T |
c.7851C>A |
p.T2617= |
Synonymous |
20/46 |
- |
1 |
16-2105878-G-A |
c.7850C>T |
p.T2617I |
Missense |
20/46 |
- |
1 |
16-2105882-C-G |
c.7846G>C |
p.V2616L |
Missense |
20/46 |
- |
1 |
16-2105884-A-C |
c.7844T>G |
p.L2615R |
Missense |
20/46 |
- |
1 |
16-2105884-A-G |
c.7844T>C |
p.L2615P |
Missense |
20/46 |
- |
2 |
16-2105885-G-A |
c.7843C>T |
p.L2615= |
Synonymous |
20/46 |
- |
1 |
16-2105886-G-T |
c.7842C>A |
p.A2614= |
Synonymous |
20/46 |
- |
1 |
16-2105887-G-A |
c.7841C>T |
p.A2614V |
Missense |
20/46 |
- |
2 |
16-2105888-C-A |
c.7840G>T |
p.A2614S |
Missense |
20/46 |
- |
1 |
16-2105889-C-T |
c.7839G>A |
p.L2613= |
Synonymous |
20/46 |
- |
1 |
16-2105891-A-G |
c.7837T>C |
p.L2613= |
Synonymous |
20/46 |
- |
1 |
16-2105892-C-T |
c.7836G>A |
p.S2612= |
Synonymous |
20/46 |
- |
1 |
16-2105893-GA-CC |
c.7834_7835delinsGG |
p.S2612G |
Missense |
20/46 |
- |
1 |
16-2105893-G-C |
c.7835C>G |
p.S2612W |
Missense |
20/46 |
- |
1 |
16-2105895-G-A |
c.7833C>T |
p.Y2611= |
Synonymous |
20/46 |
- |
1 |
16-2105895-G-C |
c.7833C>G |
p.Y2611* |
Nonsense |
20/46 |
- |
1 |
16-2105897-A-G |
c.7831T>C |
p.Y2611H |
Missense |
20/46 |
- |
1 |
16-2105898-C-T |
c.7830G>A |
p.E2610= |
Synonymous |
20/46 |
- |
1 |
16-2105903-T-C |
c.7825A>G |
p.I2609V |
Missense |
20/46 |
- |
1 |
16-2105906-C-T |
c.7822G>A |
p.V2608I |
Missense |
20/46 |
- |
2 |
16-2105907-G-A |
c.7821C>T |
p.H2607= |
Synonymous |
20/46 |
- |
1 |
16-2105908-T-A |
c.7820A>T |
p.H2607L |
Missense |
20/46 |
- |
3 |
16-2105912-G-A |
c.7816C>T |
p.Q2606* |
Nonsense |
20/46 |
- |
2 |
16-2105911-TG-T |
c.7816del |
p.Q2606Sfs*14 |
Frameshift |
20/46 |
- |
1 |
16-2105918-C-T |
c.7810G>A |
p.D2604N |
Missense |
20/46 |
- |
3 |
16-2105921-C-A |
c.7807G>T |
p.A2603S |
Missense |
20/46 |
- |
1 |
16-2105922-C-T |
c.7806G>A |
p.Q2602= |
Synonymous |
20/46 |
- |
2 |
16-2105924-G-A |
c.7804C>T |
p.Q2602* |
Nonsense |
20/46 |
- |
5 |
16-2105927-G-A |
c.7801C>T |
p.R2601W |
Missense |
20/46 |
- |
1 |
16-2105928-C-A |
c.7800G>T |
p.L2600= |
Synonymous |
20/46 |
- |
2 |
16-2105928-C-G |
c.7800G>C |
p.L2600= |
Synonymous |
20/46 |
- |
2 |
16-2105928-C-T |
c.7800G>A |
p.L2600= |
Synonymous |
20/46 |
- |
2 |
16-2105930-G-A |
c.7798C>T |
p.L2600= |
Synonymous |
20/46 |
- |
2 |
16-2105932-A-C |
c.7796T>G |
p.L2599R |
Missense |
20/46 |
- |
1 |
16-2105935-C-A |
c.7793G>T |
p.G2598V |
Missense |
20/46 |
- |
1 |
16-2105937-T-A |
c.7791A>T |
p.P2597= |
Synonymous |
20/46 |
- |
2 |
16-2105937-T-C |
c.7791A>G |
p.P2597= |
Synonymous |
20/46 |
- |
2 |
16-2105937-T-G |
c.7791A>C |
p.P2597= |
Synonymous |
20/46 |
- |
2 |
16-2105939-G-A |
c.7789C>T |
p.P2597S |
Missense |
20/46 |
- |
1 |
16-2105939-G-T |
c.7789C>A |
p.P2597T |
Missense |
20/46 |
- |
2 |
16-2105942-G-A |
c.7786C>T |
p.L2596F |
Missense |
20/46 |
- |
1 |
16-2105942-G-C |
c.7786C>G |
p.L2596V |
Missense |
20/46 |
- |
1 |
16-2105951-C-T |
c.7777G>A |
p.A2593T |
Missense |
20/46 |
- |
1 |
16-2105952-G-A |
c.7776C>T |
p.T2592= |
Synonymous |
20/46 |
- |
2 |
16-2105952-G-C |
c.7776C>G |
p.T2592= |
Synonymous |
20/46 |
- |
1 |
16-2105952-G-T |
c.7776C>A |
p.T2592= |
Synonymous |
20/46 |
- |
1 |
16-2105953-G-A |
c.7775C>T |
p.T2592I |
Missense |
20/46 |
- |
2 |
16-2105963-GCAGC-G |
c.7761_7764del |
p.W2587Cfs*32 |
Frameshift |
20/46 |
- |
1 |
16-2105967-C-A |
c.7761G>T |
p.W2587C |
Missense |
20/46 |
- |
1 |
16-2105967-C-G |
c.7761G>C |
p.W2587C |
Missense |
20/46 |
- |
1 |
16-2105967-C-T |
c.7761G>A |
p.W2587* |
Nonsense |
20/46 |
- |
2 |
16-2105968-C-T |
c.7760G>A |
p.W2587* |
Nonsense |
20/46 |
- |
1 |
16-2105978-GC-G |
c.7749del |
p.L2584Sfs*36 |
Frameshift |
20/46 |
- |
1 |
16-2105982-C-A |
c.7746G>T |
p.T2582= |
Synonymous |
20/46 |
- |
1 |
16-2105982-CG-GA |
c.7745_7746delinsTC |
p.T2582I |
Missense |
20/46 |
- |
1 |
16-2105983-G-A |
c.7745C>T |
p.T2582M |
Missense |
20/46 |
- |
6 |
16-2105988-G-A |
c.7740C>T |
p.S2580= |
Synonymous |
20/46 |
- |
1 |
16-2105990-TGCC-T |
c.7735_7737del |
p.G2579del |
InFrameDeletion |
20/46 |
- |
1 |
16-2106001-T-C |
c.7727A>G |
p.E2576G |
Missense |
20/46 |
- |
1 |
16-2106005-G-T |
c.7723C>A |
p.P2575T |
Missense |
20/46 |
- |
1 |
16-2106009-G-A |
c.7719C>T |
p.T2573= |
Synonymous |
20/46 |
- |
1 |
16-2106009-G-C |
c.7719C>G |
p.T2573= |
Synonymous |
20/46 |
- |
1 |
16-2106009-G-T |
c.7719C>A |
p.T2573= |
Synonymous |
20/46 |
- |
1 |
16-2106012-G-T |
c.7716C>A |
p.I2572= |
Synonymous |
20/46 |
- |
2 |
16-2106015-G-A |
c.7713C>T |
p.A2571= |
Synonymous |
20/46 |
- |
1 |
16-2106018-C-A |
c.7710G>T |
p.L2570F |
Missense |
20/46 |
- |
1 |
16-2106018-C-G |
c.7710G>C |
p.L2570F |
Missense |
20/46 |
- |
1 |
16-2106020-A-G |
c.7708T>C |
p.L2570= |
Synonymous |
20/46 |
- |
7 |
16-2106022-G-C |
c.7706C>G |
p.S2569C |
Missense |
20/46 |
- |
2 |
16-2106067-G-A |
c.7703+24C>T |
- |
IntronicSNV |
- |
19/45 |
1 |
16-2106067-G-T |
c.7703+24C>A |
- |
IntronicSNV |
- |
19/45 |
2 |
16-2106078-C-T |
c.7703+13G>A |
- |
IntronicSNV |
- |
19/45 |
1 |
16-2106086-C-A |
c.7703+5G>T |
- |
IntronicSNV |
- |
19/45 |
2 |
16-2106087-T-A |
c.7703+4A>T |
- |
IntronicSNV |
- |
19/45 |
1 |
16-2106090-C-G |
c.7703+1G>C |
- |
IntronicSNV |
- |
19/45 |
1 |
16-2106092-T-C |
c.7702A>G |
p.R2568G |
Missense |
19/46 |
- |
1 |
16-2106100-G-A |
c.7694C>T |
p.A2565V |
Missense |
19/46 |
- |
1 |
16-2106098-GGGCGACCACAGC-G |
c.7684_7695del |
p.A2562_A2565del |
InFrameDeletion |
19/46 |
- |
1 |
16-2106111-G-A |
c.7683C>T |
p.A2561= |
Synonymous |
19/46 |
- |
1 |
16-2106112-G-A |
c.7682C>T |
p.A2561V |
Missense |
19/46 |
- |
1 |
16-2106115-C-G |
c.7679G>C |
p.G2560A |
Missense |
19/46 |
- |
1 |
16-2106122-G-A |
c.7672C>T |
p.Q2558* |
Nonsense |
19/46 |
- |
1 |
16-2106124-T-C |
c.7670A>G |
p.D2557G |
Missense |
19/46 |
- |
4 |
16-2106128-G-A |
c.7666C>T |
p.Q2556* |
Nonsense |
19/46 |
- |
9 |
16-2106131-C-T |
c.7663G>A |
p.V2555M |
Missense |
19/46 |
- |
1 |
16-2106131-C-CCT |
c.7662_7663insAG |
p.V2555Rfs*66 |
Frameshift |
19/46 |
- |
1 |
16-2106132-C-A |
c.7662G>T |
p.V2554= |
Synonymous |
19/46 |
- |
1 |
16-2106132-C-G |
c.7662G>C |
p.V2554= |
Synonymous |
19/46 |
- |
1 |
16-2106132-C-T |
c.7662G>A |
p.V2554= |
Synonymous |
19/46 |
- |
1 |
16-2106136-A-G |
c.7658T>C |
p.V2553A |
Missense |
19/46 |
- |
1 |
16-2106137-C-T |
c.7657G>A |
p.V2553M |
Missense |
19/46 |
- |
1 |
16-2106138-G-A |
c.7656C>T |
p.A2552= |
Synonymous |
19/46 |
- |
2 |
16-2106145-C-T |
c.7649G>A |
p.G2550D |
Missense |
19/46 |
- |
2 |
16-2106152-C-G |
c.7642G>C |
p.E2548Q |
Missense |
19/46 |
- |
5 |
16-2106158-G-A |
c.7636C>T |
p.H2546Y |
Missense |
19/46 |
- |
3 |
16-2106163-C-T |
c.7631G>A |
p.R2544K |
Missense |
19/46 |
- |
1 |
16-2106164-T-A |
c.7630A>T |
p.R2544W |
Missense |
19/46 |
- |
1 |
16-2106170-C-A |
c.7624G>T |
p.G2542C |
Missense |
19/46 |
- |
1 |
16-2106172-G-A |
c.7622C>T |
p.P2541L |
Missense |
19/46 |
- |
4 |
16-2106171-CG-C |
c.7622del |
p.P2541Rfs*79 |
Frameshift |
19/46 |
- |
1 |
16-2106188-C-A |
c.7606G>T |
p.G2536* |
Nonsense |
19/46 |
- |
1 |
16-2106188-C-G |
c.7606G>C |
p.G2536R |
Missense |
19/46 |
- |
2 |
16-2106188-C-T |
c.7606G>A |
p.G2536R |
Missense |
19/46 |
- |
2 |
16-2106189-G-C |
c.7605C>G |
p.Y2535* |
Nonsense |
19/46 |
- |
1 |
16-2106188-CGTA-C |
c.7603_7605del |
p.Y2535del |
InFrameDeletion |
19/46 |
- |
1 |
16-2106188-CGTAGCTGGAGAGGCTGCCCTT-C |
c.7585_7605del |
p.K2529_Y2535del |
InFrameDeletion |
19/46 |
- |
1 |
16-2106194-T-A |
c.7600A>T |
p.S2534C |
Missense |
19/46 |
- |
3 |
16-2106194-T-C |
c.7600A>G |
p.S2534G |
Missense |
19/46 |
- |
3 |
16-2106196-GA-TT |
c.7597_7598delinsAA |
p.S2533N |
Missense |
19/46 |
- |
1 |
16-2106196-G-T |
c.7598C>A |
p.S2533Y |
Missense |
19/46 |
- |
1 |
16-2106205-C-G |
c.7589G>C |
p.G2530A |
Missense |
19/46 |
- |
1 |
16-2106205-C-T |
c.7589G>A |
p.G2530D |
Missense |
19/46 |
- |
2 |
16-2106206-C-A |
c.7588G>T |
p.G2530C |
Missense |
19/46 |
- |
3 |
16-2106207-C-A |
c.7587G>T |
p.K2529N |
Missense |
19/46 |
- |
2 |
16-2106207-C-G |
c.7587G>C |
p.K2529N |
Missense |
19/46 |
- |
2 |
16-2106211-T-A |
c.7583A>T |
p.Y2528F |
Missense |
19/46 |
- |
1 |
16-2106211-T-C |
c.7583A>G |
p.Y2528C |
Missense |
19/46 |
- |
1 |
16-2106213-GAC-G |
c.7579_7580del |
p.V2527Lfs*67 |
Frameshift |
19/46 |
- |
2 |
16-2106217-C-T |
c.7577G>A |
p.C2526Y |
Missense |
19/46 |
- |
1 |
16-2106218-A-G |
c.7576T>C |
p.C2526R |
Missense |
19/46 |
- |
1 |
16-2106219-G-A |
c.7575C>T |
p.F2525= |
Synonymous |
19/46 |
- |
1 |
16-2106221-A-G |
c.7573T>C |
p.F2525L |
Missense |
19/46 |
- |
1 |
16-2106223-T-G |
c.7571A>C |
p.E2524A |
Missense |
19/46 |
- |
1 |
16-2106225-C-A |
c.7569G>T |
p.E2523D |
Missense |
19/46 |
- |
2 |
16-2106225-C-G |
c.7569G>C |
p.E2523D |
Missense |
19/46 |
- |
1 |
16-2106228-G-A |
c.7566C>T |
p.C2522= |
Synonymous |
19/46 |
- |
1 |
16-2106228-G-T |
c.7566C>A |
p.C2522* |
Nonsense |
19/46 |
- |
2 |
16-2106229-C-T |
c.7565G>A |
p.C2522Y |
Missense |
19/46 |
- |
1 |
16-2106234-G-A |
c.7560C>T |
p.G2520= |
Synonymous |
19/46 |
- |
1 |
16-2106236-C-A |
c.7558G>T |
p.G2520C |
Missense |
19/46 |
- |
1 |
16-2106238-T-A |
c.7556A>T |
p.Q2519L |
Missense |
19/46 |
- |
2 |
16-2106239-G-A |
c.7555C>T |
p.Q2519* |
Nonsense |
19/46 |
- |
4 |
16-2106241-C-T |
c.7553G>A |
p.R2518H |
Missense |
19/46 |
- |
2 |
16-2106243-A-AC |
c.7550dup |
p.C2517Wfs*78 |
Frameshift |
19/46 |
- |
1 |
16-2106246-GC-TT |
c.7547_7548delinsAA |
p.R2516Q |
Missense |
19/46 |
- |
1 |
16-2106247-C-T |
c.7547G>A |
p.R2516H |
Missense |
19/46 |
- |
2 |
16-2106248-G-A |
c.7546C>T |
p.R2516C |
Missense |
19/46 |
- |
3 |
16-2106250-C-T |
c.7544G>A |
p.R2515Q |
Missense |
19/46 |
- |
3 |
16-2106251-G-A |
c.7543C>T |
p.R2515W |
Missense |
19/46 |
- |
3 |
16-2106255-C-T |
c.7539G>A |
p.L2513= |
Synonymous |
19/46 |
- |
1 |
16-2106260-G-T |
c.7534C>A |
p.L2512M |
Missense |
19/46 |
- |
1 |
16-2106259-AG-A |
c.7534del |
p.L2512Cfs*108 |
Frameshift |
19/46 |
- |
1 |
16-2106263-C-A |
c.7531G>T |
p.A2511S |
Missense |
19/46 |
- |
1 |
16-2106263-C-T |
c.7531G>A |
p.A2511T |
Missense |
19/46 |
- |
1 |
16-2106264-G-A |
c.7530C>T |
p.Y2510= |
Synonymous |
19/46 |
- |
3 |
16-2106265-T-C |
c.7529A>G |
p.Y2510C |
Missense |
19/46 |
- |
1 |
16-2106270-C-A |
c.7524G>T |
p.L2508= |
Synonymous |
19/46 |
- |
2 |
16-2106270-C-G |
c.7524G>C |
p.L2508= |
Synonymous |
19/46 |
- |
2 |
16-2106270-C-T |
c.7524G>A |
p.L2508= |
Synonymous |
19/46 |
- |
2 |
16-2106272-G-A |
c.7522C>T |
p.L2508= |
Synonymous |
19/46 |
- |
3 |
16-2106272-G-C |
c.7522C>G |
p.L2508V |
Missense |
19/46 |
- |
1 |
16-2106273-C-T |
c.7521G>A |
p.P2507= |
Synonymous |
19/46 |
- |
1 |
16-2106275-G-A |
c.7519C>T |
p.P2507S |
Missense |
19/46 |
- |
2 |
16-2106278-C-T |
c.7516G>A |
p.A2506T |
Missense |
19/46 |
- |
2 |
16-2106281-C-A |
c.7513G>T |
p.G2505C |
Missense |
19/46 |
- |
5 |
16-2106283-G-T |
c.7511C>A |
p.A2504D |
Missense |
19/46 |
- |
1 |
16-2106290-C-T |
c.7504G>A |
p.E2502K |
Missense |
19/46 |
- |
1 |
16-2106293-C-T |
c.7501G>A |
p.A2501T |
Missense |
19/46 |
- |
2 |
16-2106303-G-T |
c.7491C>A |
p.G2497= |
Synonymous |
19/46 |
- |
1 |
16-2106304-C-A |
c.7490G>T |
p.G2497V |
Missense |
19/46 |
- |
1 |
16-2106368-G-A |
c.7489+30C>T |
- |
IntronicSNV |
- |
18/45 |
1 |
16-2106399-C-T |
c.7488G>A |
p.T2496= |
Synonymous |
18/46 |
- |
1 |
16-2106400-G-A |
c.7487C>T |
p.T2496M |
Missense |
18/46 |
- |
1 |
16-2106403-C-T |
c.7484G>A |
p.C2495Y |
Missense |
18/46 |
- |
1 |
16-2106404-A-G |
c.7483T>C |
p.C2495R |
Missense |
18/46 |
- |
3 |
16-2106407-C-T |
c.7480G>A |
p.E2494K |
Missense |
18/46 |
- |
2 |
16-2106411-G-A |
c.7476C>T |
p.H2492= |
Synonymous |
18/46 |
- |
1 |
16-2106424-G-A |
c.7463C>T |
p.T2488I |
Missense |
18/46 |
- |
2 |
16-2106427-A-G |
c.7460T>C |
p.L2487P |
Missense |
18/46 |
- |
1 |
16-2106433-T-C |
c.7454A>G |
p.H2485R |
Missense |
18/46 |
- |
1 |
16-2106436-A-C |
c.7451T>G |
p.V2484G |
Missense |
18/46 |
- |
1 |
16-2106439-G-A |
c.7448C>T |
p.A2483V |
Missense |
18/46 |
- |
1 |
16-2106440-C-T |
c.7447G>A |
p.A2483T |
Missense |
18/46 |
- |
1 |
16-2106444-CCA-C |
c.7442_7443del |
p.L2481Rfs*19 |
Frameshift |
18/46 |
- |
1 |
16-2106446-G-A |
c.7441C>T |
p.L2481= |
Synonymous |
18/46 |
- |
8 |
16-2106449-G-A |
c.7438C>T |
p.P2480S |
Missense |
18/46 |
- |
1 |
16-2106457-C-T |
c.7430G>A |
p.R2477H |
Missense |
18/46 |
- |
2 |
16-2106459-G-C |
c.7428C>G |
p.C2476W |
Missense |
18/46 |
- |
1 |
16-2106459-G-T |
c.7428C>A |
p.C2476* |
Nonsense |
18/46 |
- |
1 |
16-2106460-C-A |
c.7427G>T |
p.C2476F |
Missense |
18/46 |
- |
1 |
16-2106460-C-T |
c.7427G>A |
p.C2476Y |
Missense |
18/46 |
- |
1 |
16-2106464-A-AC |
c.7422_7423insG |
p.S2475Vfs*26 |
Frameshift |
18/46 |
- |
1 |
16-2106465-AGC-A |
c.7421_7422del |
p.G2474Vfs*26 |
Frameshift |
18/46 |
- |
1 |
16-2106469-C-G |
c.7418G>C |
p.G2473A |
Missense |
18/46 |
- |
1 |
16-2106470-C-T |
c.7417G>A |
p.G2473R |
Missense |
18/46 |
- |
2 |
16-2106465-G-GC |
c.7421dup |
p.S2475Lfs*26 |
Frameshift |
18/46 |
- |
1 |
16-2106475-G-A |
c.7412C>T |
p.P2471L |
Missense |
18/46 |
- |
4 |
16-2106478-G-T |
c.7409C>A |
p.P2470Q |
Missense |
18/46 |
- |
1 |
16-2106479-G-A |
c.7408C>T |
p.P2470S |
Missense |
18/46 |
- |
2 |
16-2106479-G-C |
c.7408C>G |
p.P2470A |
Missense |
18/46 |
- |
1 |
16-2106481-C-T |
c.7406G>A |
p.R2469H |
Missense |
18/46 |
- |
1 |
16-2106482-G-A |
c.7405C>T |
p.R2469C |
Missense |
18/46 |
- |
5 |
16-2106483-G-A |
c.7404C>T |
p.N2468= |
Synonymous |
18/46 |
- |
1 |
16-2106486-G-A |
c.7401C>T |
p.P2467= |
Synonymous |
18/46 |
- |
1 |
16-2106487-G-A |
c.7400C>T |
p.P2467L |
Missense |
18/46 |
- |
1 |
16-2106485-TG-T |
c.7401del |
p.N2468Tfs*152 |
Frameshift |
18/46 |
- |
2 |
16-2106493-A-G |
c.7394T>C |
p.L2465P |
Missense |
18/46 |
- |
1 |
16-2106496-C-A |
c.7391G>T |
p.R2464L |
Missense |
18/46 |
- |
1 |
16-2106496-C-G |
c.7391G>C |
p.R2464P |
Missense |
18/46 |
- |
1 |
16-2106506-C-T |
c.7381G>A |
p.A2461T |
Missense |
18/46 |
- |
2 |
16-2106507-G-A |
c.7380C>T |
p.C2460= |
Synonymous |
18/46 |
- |
1 |
16-2106508-C-A |
c.7379G>T |
p.C2460F |
Missense |
18/46 |
- |
1 |
16-2106511-C-T |
c.7376G>A |
p.G2459D |
Missense |
18/46 |
- |
1 |
16-2106515-C-A |
c.7372G>T |
p.E2458* |
Nonsense |
18/46 |
- |
1 |
16-2106511-CCCT-C |
c.7373_7375del |
p.E2458del |
InFrameDeletion |
18/46 |
- |
2 |
16-2106523-C-G |
c.7364G>C |
p.G2455A |
Missense |
18/46 |
- |
1 |
16-2106526-G-A |
c.7361C>T |
p.S2454F |
Missense |
18/46 |
- |
1 |
16-2106528-G-A |
c.7359C>T |
p.R2453= |
Synonymous |
18/46 |
- |
1 |
16-2106529-C-A |
c.7358G>T |
p.R2453L |
Missense |
18/46 |
- |
1 |
16-2106529-C-T |
c.7358G>A |
p.R2453H |
Missense |
18/46 |
- |
2 |
16-2106531-GGCC-G |
c.7354_7356del |
p.G2452del |
InFrameDeletion |
18/46 |
- |
1 |
16-2106530-GGCCCAGCACCGT-G |
c.7345_7356del |
p.T2449_G2452del |
InFrameDeletion |
18/46 |
- |
1 |
16-2106538-A-G |
c.7349T>C |
p.V2450A |
Missense |
18/46 |
- |
1 |
16-2106541-G-A |
c.7346C>T |
p.T2449M |
Missense |
18/46 |
- |
2 |
16-2106546-C-A |
c.7341G>T |
p.T2447= |
Synonymous |
18/46 |
- |
1 |
16-2106549-G-A |
c.7338C>T |
p.F2446= |
Synonymous |
18/46 |
- |
1 |
16-2106554-T-G |
c.7333A>C |
p.T2445P |
Missense |
18/46 |
- |
1 |
16-2106556-T-A |
c.7331A>T |
p.Y2444F |
Missense |
18/46 |
- |
2 |
16-2106558-TC-T |
c.7328del |
p.G2443Dfs*177 |
Frameshift |
18/46 |
- |
1 |
16-2106563-C-G |
c.7324G>C |
p.E2442Q |
Missense |
18/46 |
- |
1 |
16-2106563-C-T |
c.7324G>A |
p.E2442K |
Missense |
18/46 |
- |
1 |
16-2106564-G-A |
c.7323C>T |
p.G2441= |
Synonymous |
18/46 |
- |
1 |
16-2106565-C-G |
c.7322G>C |
p.G2441A |
Missense |
18/46 |
- |
1 |
16-2106566-C-T |
c.7321G>A |
p.G2441S |
Missense |
18/46 |
- |
2 |
16-2106570-CC-AT |
c.7316_7317delinsAT |
p.R2439H |
Missense |
18/46 |
- |
1 |
16-2106570-C-A |
c.7317G>T |
p.R2439= |
Synonymous |
18/46 |
- |
1 |
16-2106570-C-G |
c.7317G>C |
p.R2439= |
Synonymous |
18/46 |
- |
1 |
16-2106570-C-T |
c.7317G>A |
p.R2439= |
Synonymous |
18/46 |
- |
1 |
16-2106572-G-T |
c.7315C>A |
p.R2439= |
Synonymous |
18/46 |
- |
1 |
16-2106568-TCCCGCAGCACGC-T |
c.7307_7318del |
p.G2436_R2439del |
InFrameDeletion |
18/46 |
- |
1 |
16-2106578-C-A |
c.7309G>T |
p.V2437L |
Missense |
18/46 |
- |
1 |
16-2106578-C-G |
c.7309G>C |
p.V2437L |
Missense |
18/46 |
- |
1 |
16-2106569-CCCGCAGCACGCCCCG-C |
c.7303_7317del |
p.R2435_R2439del |
InFrameDeletion |
18/46 |
- |
1 |
16-2106579-G-A |
c.7308C>T |
p.G2436= |
Synonymous |
18/46 |
- |
2 |
16-2106579-G-C |
c.7308C>G |
p.G2436= |
Synonymous |
18/46 |
- |
1 |
16-2106579-G-T |
c.7308C>A |
p.G2436= |
Synonymous |
18/46 |
- |
1 |
16-2106580-C-A |
c.7307G>T |
p.G2436V |
Missense |
18/46 |
- |
1 |
16-2106580-C-T |
c.7307G>A |
p.G2436D |
Missense |
18/46 |
- |
1 |
16-2106581-C-T |
c.7306G>A |
p.G2436S |
Missense |
18/46 |
- |
1 |
16-2106582-C-A |
c.7305G>T |
p.R2435= |
Synonymous |
18/46 |
- |
1 |
16-2106586-C-T |
c.7301G>A |
p.R2434Q |
Missense |
18/46 |
- |
1 |
16-2106587-G-A |
c.7300C>T |
p.R2434W |
Missense |
18/46 |
- |
7 |
16-2106589-A-C |
c.7298T>G |
p.L2433R |
Missense |
18/46 |
- |
1 |
16-2106586-CGCA-C |
c.7298_7300del |
p.L2433del |
InFrameDeletion |
18/46 |
- |
2 |
16-2106595-A-T |
c.7292T>A |
p.L2431Q |
Missense |
18/46 |
- |
2 |
16-2106599-G-A |
c.7288C>T |
p.R2430* |
Nonsense |
18/46 |
- |
11 |
16-2106599-G-C |
c.7288C>G |
p.R2430G |
Missense |
18/46 |
- |
1 |
16-2106603-G-A |
c.7284C>T |
p.G2428= |
Synonymous |
18/46 |
- |
1 |
16-2106604-C-G |
c.7283G>C |
p.G2428A |
Missense |
18/46 |
- |
1 |
16-2106607-G-A |
c.7280C>T |
p.A2427V |
Missense |
18/46 |
- |
1 |
16-2106605-CTGCACTGCCCGTGGATG-C |
c.7265_7281del |
p.T2422Rfs*73 |
Frameshift |
18/46 |
- |
1 |
16-2106614-C-T |
c.7273G>A |
p.G2425S |
Missense |
18/46 |
- |
5 |
16-2106616-G-A |
c.7271C>T |
p.T2424M |
Missense |
18/46 |
- |
1 |
16-2106616-G-C |
c.7271C>G |
p.T2424R |
Missense |
18/46 |
- |
1 |
16-2106619-G-A |
c.7268C>T |
p.S2423F |
Missense |
18/46 |
- |
5 |
16-2106622-G-T |
c.7265C>A |
p.T2422K |
Missense |
18/46 |
- |
4 |
16-2106624-G-A |
c.7263C>T |
p.T2421= |
Synonymous |
18/46 |
- |
2 |
16-2106624-G-C |
c.7263C>G |
p.T2421= |
Synonymous |
18/46 |
- |
1 |
16-2106624-G-T |
c.7263C>A |
p.T2421= |
Synonymous |
18/46 |
- |
1 |
16-2106626-T-C |
c.7261A>G |
p.T2421A |
Missense |
18/46 |
- |
1 |
16-2106626-T-G |
c.7261A>C |
p.T2421P |
Missense |
18/46 |
- |
1 |
16-2106629-T-C |
c.7258A>G |
p.T2420A |
Missense |
18/46 |
- |
1 |
16-2106630-C-A |
c.7257G>T |
p.E2419D |
Missense |
18/46 |
- |
1 |
16-2106630-C-G |
c.7257G>C |
p.E2419D |
Missense |
18/46 |
- |
1 |
16-2106632-C-T |
c.7255G>A |
p.E2419K |
Missense |
18/46 |
- |
1 |
16-2106637-A-T |
c.7250T>A |
p.L2417Q |
Missense |
18/46 |
- |
1 |
16-2106638-G-A |
c.7249C>T |
p.L2417= |
Synonymous |
18/46 |
- |
2 |
16-2106643-A-G |
c.7244T>C |
p.L2415P |
Missense |
18/46 |
- |
1 |
16-2106643-A-T |
c.7244T>A |
p.L2415Q |
Missense |
18/46 |
- |
1 |
16-2106646-G-A |
c.7241C>T |
p.T2414M |
Missense |
18/46 |
- |
4 |
16-2106654-G-C |
c.7233C>G |
p.S2411R |
Missense |
18/46 |
- |
1 |
16-2106660-C-A |
c.7227G>T |
p.T2409= |
Synonymous |
18/46 |
- |
2 |
16-2106660-C-G |
c.7227G>C |
p.T2409= |
Synonymous |
18/46 |
- |
1 |
16-2106660-C-T |
c.7227G>A |
p.T2409= |
Synonymous |
18/46 |
- |
1 |
16-2106661-G-A |
c.7226C>T |
p.T2409M |
Missense |
18/46 |
- |
1 |
16-2106664-C-T |
c.7223G>A |
p.R2408H |
Missense |
18/46 |
- |
3 |
16-2106665-G-A |
c.7222C>T |
p.R2408C |
Missense |
18/46 |
- |
5 |
16-2106672-C-A |
c.7215G>T |
p.W2405C |
Missense |
18/46 |
- |
1 |
16-2106672-C-T |
c.7215G>A |
p.W2405* |
Nonsense |
18/46 |
- |
1 |
16-2106673-C-A |
c.7214G>T |
p.W2405L |
Missense |
18/46 |
- |
2 |
16-2106673-C-T |
c.7214G>A |
p.W2405* |
Nonsense |
18/46 |
- |
1 |
16-2106677-G-A |
c.7210C>T |
p.R2404W |
Missense |
18/46 |
- |
3 |
16-2106789-C-T |
c.7209+16G>A |
- |
IntronicSNV |
- |
17/45 |
1 |
16-2106806-C-A |
c.7208G>T |
p.G2403V |
Missense |
17/46 |
- |
1 |
16-2106806-CCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCT-C |
c.7150_7208del |
p.S2384Afs*16 |
InFrameDeletion |
17/46 |
- |
1 |
16-2106810-G-A |
c.7204C>T |
p.R2402* |
Nonsense |
17/46 |
- |
4 |
16-2106817-G-A |
c.7197C>T |
p.G2399= |
Synonymous |
17/46 |
- |
2 |
16-2106820-G-A |
c.7194C>T |
p.S2398= |
Synonymous |
17/46 |
- |
2 |
16-2106824-C-G |
c.7190G>C |
p.S2397T |
Missense |
17/46 |
- |
1 |
16-2106824-C-T |
c.7190G>A |
p.S2397N |
Missense |
17/46 |
- |
1 |
16-2106825-T-C |
c.7189A>G |
p.S2397G |
Missense |
17/46 |
- |
1 |
16-2106827-C-T |
c.7187G>A |
p.C2396Y |
Missense |
17/46 |
- |
1 |
16-2106830-T-C |
c.7184A>G |
p.N2395S |
Missense |
17/46 |
- |
2 |
16-2106829-A-AT |
c.7184dup |
p.N2395Kfs*25 |
Frameshift |
17/46 |
- |
1 |
16-2106832-G-C |
c.7182C>G |
p.L2394= |
Synonymous |
17/46 |
- |
1 |
16-2106836-C-T |
c.7178G>A |
p.C2393Y |
Missense |
17/46 |
- |
1 |
16-2106839-C-G |
c.7175G>C |
p.R2392P |
Missense |
17/46 |
- |
3 |
16-2106840-G-A |
c.7174C>T |
p.R2392C |
Missense |
17/46 |
- |
1 |
16-2106842-C-T |
c.7172G>A |
p.G2391D |
Missense |
17/46 |
- |
4 |
16-2106846-C-T |
c.7168G>A |
p.E2390K |
Missense |
17/46 |
- |
1 |
16-2106847-C-T |
c.7167G>A |
p.L2389= |
Synonymous |
17/46 |
- |
1 |
16-2106849-A-G |
c.7165T>C |
p.L2389= |
Synonymous |
17/46 |
- |
9 |
16-2106850-G-C |
c.7164C>G |
p.Y2388* |
Nonsense |
17/46 |
- |
2 |
16-2106850-G-T |
c.7164C>A |
p.Y2388* |
Nonsense |
17/46 |
- |
1 |
16-2106856-G-A |
c.7158C>T |
p.Y2386= |
Synonymous |
17/46 |
- |
1 |
16-2106857-T-TA |
c.7156dup |
p.Y2386Lfs*34 |
Frameshift |
17/46 |
- |
1 |
16-2106858-AGGAGCTGCGGCT-GTA |
c.7144_7156delinsTAC |
p.S2382Yfs*235 |
Frameshift |
17/46 |
- |
1 |
16-2106860-G-C |
c.7154C>G |
p.S2385C |
Missense |
17/46 |
- |
1 |
16-2106868-GCTCACTT-G |
c.7139_7145del |
p.E2380Afs*238 |
Frameshift |
17/46 |
- |
1 |
16-2106870-T-G |
c.7144A>C |
p.S2382R |
Missense |
17/46 |
- |
1 |
16-2106876-C-A |
c.7138G>T |
p.E2380* |
Nonsense |
17/46 |
- |
1 |
16-2106876-C-T |
c.7138G>A |
p.E2380K |
Missense |
17/46 |
- |
1 |
16-2106878-T-C |
c.7136A>G |
p.Y2379C |
Missense |
17/46 |
- |
2 |
16-2106882-C-T |
c.7132G>A |
p.V2378M |
Missense |
17/46 |
- |
1 |
16-2106884-G-A |
c.7130C>T |
p.A2377V |
Missense |
17/46 |
- |
1 |
16-2106888-G-A |
c.7126C>T |
p.Q2376* |
Nonsense |
17/46 |
- |
1 |
16-2106890-G-A |
c.7124C>T |
p.A2375V |
Missense |
17/46 |
- |
1 |
16-2106895-G-C |
c.7119C>G |
p.C2373W |
Missense |
17/46 |
- |
2 |
16-2106895-G-T |
c.7119C>A |
p.C2373* |
Nonsense |
17/46 |
- |
1 |
16-2106896-C-T |
c.7118G>A |
p.C2373Y |
Missense |
17/46 |
- |
3 |
16-2106899-G-A |
c.7115C>T |
p.S2372F |
Missense |
17/46 |
- |
2 |
16-2106899-G-C |
c.7115C>G |
p.S2372C |
Missense |
17/46 |
- |
1 |
16-2106902-A-G |
c.7112T>C |
p.V2371A |
Missense |
17/46 |
- |
1 |
16-2106904-A-T |
c.7110T>A |
p.C2370* |
Nonsense |
17/46 |
- |
1 |
16-2106905-C-T |
c.7109G>A |
p.C2370Y |
Missense |
17/46 |
- |
1 |
16-2106899-GAC-G |
c.7113_7114del |
p.S2372Lfs*47 |
Frameshift |
17/46 |
- |
1 |
16-2106905-C-G |
c.7109G>C |
p.C2370S |
Missense |
17/46 |
- |
1 |
16-2106906-A-G |
c.7108T>C |
p.C2370R |
Missense |
17/46 |
- |
3 |
16-2106906-A-T |
c.7108T>A |
p.C2370S |
Missense |
17/46 |
- |
3 |
16-2106909-C-A |
c.7105G>T |
p.E2369* |
Nonsense |
17/46 |
- |
1 |
16-2106914-G-A |
c.7100C>T |
p.S2367F |
Missense |
17/46 |
- |
5 |
16-2106915-A-G |
c.7099T>C |
p.S2367P |
Missense |
17/46 |
- |
1 |
16-2106920-A-C |
c.7094T>G |
p.I2365S |
Missense |
17/46 |
- |
1 |
16-2106922-G-A |
c.7092C>T |
p.P2364= |
Synonymous |
17/46 |
- |
1 |
16-2106922-G-C |
c.7092C>G |
p.P2364= |
Synonymous |
17/46 |
- |
1 |
16-2106922-G-T |
c.7092C>A |
p.P2364= |
Synonymous |
17/46 |
- |
1 |
16-2106924-G-A |
c.7090C>T |
p.P2364S |
Missense |
17/46 |
- |
1 |
16-2106932-C-G |
c.7082G>C |
p.G2361A |
Missense |
17/46 |
- |
1 |
16-2106933-C-G |
c.7081G>C |
p.G2361R |
Missense |
17/46 |
- |
2 |
16-2106934-A-C |
c.7080T>G |
p.S2360R |
Missense |
17/46 |
- |
1 |
16-2106934-ACT-TCA |
c.7078_7080delinsTGA |
p.S2360* |
Nonsense |
17/46 |
- |
1 |
16-2106934-A-T |
c.7080T>A |
p.S2360R |
Missense |
17/46 |
- |
1 |
16-2106936-T-G |
c.7078A>C |
p.S2360R |
Missense |
17/46 |
- |
1 |
16-2106937-C-G |
c.7077G>C |
p.R2359= |
Synonymous |
17/46 |
- |
2 |
16-2107517-C-A |
c.7065+366G>T |
- |
IntronicSNV |
- |
16/45 |
1 |
16-2107672-G-C |
c.7065+211C>G |
- |
IntronicSNV |
- |
16/45 |
1 |
16-2107835-G-A |
c.7065+48C>T |
- |
IntronicSNV |
- |
16/45 |
1 |
16-2107837-G-A |
c.7065+46C>T |
- |
IntronicSNV |
- |
16/45 |
1 |
16-2107862-C-T |
c.7065+21G>A |
- |
IntronicSNV |
- |
16/45 |
1 |
16-2107863-G-A |
c.7065+20C>T |
- |
IntronicSNV |
- |
16/45 |
1 |
16-2107882-C-T |
c.7065+1G>A |
- |
IntronicSNV |
- |
16/45 |
1 |
16-2107882-CCGT-C |
c.7063_7065del |
p.T2355del |
InFrameDeletion |
16/46 |
- |
1 |
16-2107886-C-A |
c.7062G>T |
p.Q2354H |
Missense |
16/46 |
- |
1 |
16-2107886-C-G |
c.7062G>C |
p.Q2354H |
Missense |
16/46 |
- |
1 |
16-2107896-G-A |
c.7052C>T |
p.A2351V |
Missense |
16/46 |
- |
1 |
16-2107899-CT-C |
c.7049del |
p.E2350Gfs*8 |
Frameshift |
16/46 |
- |
1 |
16-2107900-C-T |
c.7048G>A |
p.E2350K |
Missense |
16/46 |
- |
1 |
16-2107896-GCCT-G |
c.7049_7051del |
p.E2350del |
InFrameDeletion |
16/46 |
- |
1 |
16-2107902-TC-T |
c.7045del |
p.E2349Rfs*9 |
Frameshift |
16/46 |
- |
1 |
16-2107908-C-A |
c.7040G>T |
p.R2347L |
Missense |
16/46 |
- |
1 |
16-2107908-CG-C |
c.7039del |
p.R2347Afs*11 |
Frameshift |
16/46 |
- |
1 |
16-2107911-C-A |
c.7037G>T |
p.G2346V |
Missense |
16/46 |
- |
1 |
16-2107917-T-G |
c.7031A>C |
p.K2344T |
Missense |
16/46 |
- |
1 |
16-2107917-T-TAG |
c.7030_7031insCT |
p.K2344Tfs*15 |
Frameshift |
16/46 |
- |
1 |
16-2107923-A-C |
c.7025T>G |
p.V2342G |
Missense |
16/46 |
- |
1 |
16-2107928-C-A |
c.7020G>T |
p.L2340= |
Synonymous |
16/46 |
- |
1 |
16-2107928-C-G |
c.7020G>C |
p.L2340= |
Synonymous |
16/46 |
- |
1 |
16-2107928-C-T |
c.7020G>A |
p.L2340= |
Synonymous |
16/46 |
- |
1 |
16-2107930-G-A |
c.7018C>T |
p.L2340= |
Synonymous |
16/46 |
- |
1 |
16-2107932-CTGAAGG-C |
c.7010_7015del |
p.T2337_F2338del |
InFrameDeletion |
16/46 |
- |
1 |
16-2107935-A-G |
c.7013T>C |
p.F2338S |
Missense |
16/46 |
- |
1 |
16-2107937-G-A |
c.7011C>T |
p.T2337= |
Synonymous |
16/46 |
- |
1 |
16-2107937-G-C |
c.7011C>G |
p.T2337= |
Synonymous |
16/46 |
- |
1 |
16-2107937-G-T |
c.7011C>A |
p.T2337= |
Synonymous |
16/46 |
- |
1 |
16-2107939-T-G |
c.7009A>C |
p.T2337P |
Missense |
16/46 |
- |
1 |
16-2107940-G-C |
c.7008C>G |
p.Y2336* |
Nonsense |
16/46 |
- |
1 |
16-2107940-G-T |
c.7008C>A |
p.Y2336* |
Nonsense |
16/46 |
- |
1 |
16-2107942-A-C |
c.7006T>G |
p.Y2336D |
Missense |
16/46 |
- |
4 |
16-2107944-T-TC |
c.7003dup |
p.E2335Gfs*85 |
Frameshift |
16/46 |
- |
1 |
16-2107946-CCACGCCA-C |
c.6996_7002del |
p.G2333Sfs*6 |
Frameshift |
16/46 |
- |
1 |
16-2107948-C-A |
c.7000G>T |
p.V2334L |
Missense |
16/46 |
- |
1 |
16-2107948-C-G |
c.7000G>C |
p.V2334L |
Missense |
16/46 |
- |
1 |
16-2107948-C-T |
c.7000G>A |
p.V2334M |
Missense |
16/46 |
- |
1 |
16-2107950-C-G |
c.6998G>C |
p.G2333A |
Missense |
16/46 |
- |
1 |
16-2107956-G-C |
c.6992C>G |
p.A2331G |
Missense |
16/46 |
- |
1 |
16-2107947-ACGCCAGC-A |
c.6994_7000del |
p.A2332Wfs*7 |
Frameshift |
16/46 |
- |
3 |
16-2107959-A-T |
c.6989T>A |
p.L2330Q |
Missense |
16/46 |
- |
1 |
16-2107960-G-C |
c.6988C>G |
p.L2330V |
Missense |
16/46 |
- |
1 |
16-2107962-C-G |
c.6986G>C |
p.R2329P |
Missense |
16/46 |
- |
1 |
16-2107962-C-T |
c.6986G>A |
p.R2329Q |
Missense |
16/46 |
- |
1 |
16-2107963-G-A |
c.6985C>T |
p.R2329W |
Missense |
16/46 |
- |
2 |
16-2107964-C-T |
c.6984G>A |
p.E2328= |
Synonymous |
16/46 |
- |
1 |
16-2107965-TC-T |
c.6982del |
p.E2328Sfs*13 |
Frameshift |
16/46 |
- |
1 |
16-2107969-G-A |
c.6979C>T |
p.R2327W |
Missense |
16/46 |
- |
5 |
16-2107962-CGCTCCCGTGGAATGGTGACCGTGCT-C |
c.6961_6985del |
p.S2321Gfs*12 |
Frameshift |
16/46 |
- |
1 |
16-2107978-T-G |
c.6970A>C |
p.T2324P |
Missense |
16/46 |
- |
1 |
16-2107978-T-TGC |
c.6969_6970insGC |
p.T2324Afs*18 |
Frameshift |
16/46 |
- |
1 |
16-2107979-G-A |
c.6969C>T |
p.V2323= |
Synonymous |
16/46 |
- |
1 |
16-2107983-G-A |
c.6965C>T |
p.T2322M |
Missense |
16/46 |
- |
1 |
16-2107984-T-C |
c.6964A>G |
p.T2322A |
Missense |
16/46 |
- |
1 |
16-2107987-T-TC |
c.6960_6961insG |
p.S2321Efs*99 |
Frameshift |
16/46 |
- |
1 |
16-2107991-C-T |
c.6957G>A |
p.G2319= |
Synonymous |
16/46 |
- |
1 |
16-2107991-TCCC-T |
c.6955_6957del |
p.G2319del |
InFrameDeletion |
16/46 |
- |
1 |
16-2107997-G-A |
c.6951C>T |
p.P2317= |
Synonymous |
16/46 |
- |
3 |
16-2108002-C-CA |
c.6945dup |
p.G2316Wfs*104 |
Frameshift |
16/46 |
- |
1 |
16-2108012-C-T |
c.6936G>A |
p.A2312= |
Synonymous |
16/46 |
- |
1 |
16-2108013-G-A |
c.6935C>T |
p.A2312V |
Missense |
16/46 |
- |
4 |
16-2108016-C-T |
c.6932G>A |
p.C2311Y |
Missense |
16/46 |
- |
1 |
16-2108017-AC-A |
c.6930del |
p.C2311Vfs*3 |
Frameshift |
16/46 |
- |
3 |
16-2108021-G-A |
c.6927C>T |
p.G2309= |
Synonymous |
16/46 |
- |
4 |
16-2108026-C-CGTG |
c.6921_6922insCAC |
p.E2307_A2308insH |
InFrameInsertion |
16/46 |
- |
1 |
16-2108029-C-T |
c.6919G>A |
p.E2307K |
Missense |
16/46 |
- |
2 |
16-2108175-T-A |
c.6915+77A>T |
- |
IntronicSNV |
- |
15/45 |
1 |
16-2108213-G-A |
c.6915+39C>T |
- |
IntronicSNV |
- |
15/45 |
1 |
16-2108230-G-A |
c.6915+22C>T |
- |
IntronicSNV |
- |
15/45 |
1 |
16-2108250-A-C |
c.6915+2T>G |
- |
IntronicSNV |
- |
15/45 |
1 |
16-2108251-C-G |
c.6915+1G>C |
- |
IntronicSNV |
- |
15/45 |
1 |
16-2108254-G-A |
c.6913C>T |
p.Q2305* |
Nonsense |
15/46 |
- |
1 |
16-2108257-T-C |
c.6910A>G |
p.T2304A |
Missense |
15/46 |
- |
2 |
16-2108258-C-T |
c.6909G>A |
p.S2303= |
Synonymous |
15/46 |
- |
1 |
16-2108259-G-A |
c.6908C>T |
p.S2303L |
Missense |
15/46 |
- |
5 |
16-2108271-G-A |
c.6896C>T |
p.A2299V |
Missense |
15/46 |
- |
4 |
16-2108271-GC-G |
c.6895del |
p.A2299Pfs*15 |
Frameshift |
15/46 |
- |
1 |
16-2108274-C-T |
c.6893G>A |
p.W2298* |
Nonsense |
15/46 |
- |
1 |
16-2108275-A-C |
c.6892T>G |
p.W2298G |
Missense |
15/46 |
- |
1 |
16-2108275-A-G |
c.6892T>C |
p.W2298R |
Missense |
15/46 |
- |
1 |
16-2108275-A-T |
c.6892T>A |
p.W2298R |
Missense |
15/46 |
- |
1 |
16-2108276-G-C |
c.6891C>G |
p.H2297Q |
Missense |
15/46 |
- |
2 |
16-2108276-G-T |
c.6891C>A |
p.H2297Q |
Missense |
15/46 |
- |
2 |
16-2108277-T-G |
c.6890A>C |
p.H2297P |
Missense |
15/46 |
- |
1 |
16-2108284-CTG-C |
c.6882_6883del |
p.S2295Ffs*124 |
Frameshift |
15/46 |
- |
2 |
16-2108285-G-A |
c.6882C>T |
p.L2294= |
Synonymous |
15/46 |
- |
1 |
16-2108285-G-C |
c.6882C>G |
p.L2294= |
Synonymous |
15/46 |
- |
1 |
16-2108285-G-T |
c.6882C>A |
p.L2294= |
Synonymous |
15/46 |
- |
1 |
16-2108289-G-A |
c.6878C>T |
p.P2293L |
Missense |
15/46 |
- |
5 |
16-2108290-G-A |
c.6877C>T |
p.P2293S |
Missense |
15/46 |
- |
1 |
16-2108292-G-A |
c.6875C>T |
p.T2292M |
Missense |
15/46 |
- |
1 |
16-2108292-G-C |
c.6875C>G |
p.T2292R |
Missense |
15/46 |
- |
1 |
16-2108297-G-A |
c.6870C>T |
p.D2290= |
Synonymous |
15/46 |
- |
1 |
16-2108298-T-A |
c.6869A>T |
p.D2290V |
Missense |
15/46 |
- |
2 |
16-2108299-C-A |
c.6868G>T |
p.D2290Y |
Missense |
15/46 |
- |
2 |
16-2108299-C-T |
c.6868G>A |
p.D2290N |
Missense |
15/46 |
- |
1 |
16-2108305-C-T |
c.6862G>A |
p.D2288N |
Missense |
15/46 |
- |
2 |
16-2108306-C-T |
c.6861G>A |
p.E2287= |
Synonymous |
15/46 |
- |
2 |
16-2108308-C-G |
c.6859G>C |
p.E2287Q |
Missense |
15/46 |
- |
1 |
16-2108311-G-T |
c.6856C>A |
p.L2286M |
Missense |
15/46 |
- |
1 |
16-2108320-C-T |
c.6847G>A |
p.D2283N |
Missense |
15/46 |
- |
1 |
16-2108321-G-A |
c.6846C>T |
p.Y2282= |
Synonymous |
15/46 |
- |
1 |
16-2108323-A-G |
c.6844T>C |
p.Y2282H |
Missense |
15/46 |
- |
2 |
16-2108325-G-A |
c.6842C>T |
p.S2281F |
Missense |
15/46 |
- |
1 |
16-2108330-G-A |
c.6837C>T |
p.S2279= |
Synonymous |
15/46 |
- |
2 |
16-2108335-C-G |
c.6832G>C |
p.G2278R |
Missense |
15/46 |
- |
1 |
16-2108335-C-T |
c.6832G>A |
p.G2278R |
Missense |
15/46 |
- |
3 |
16-2108336-A-AT |
c.6830dup |
p.D2277Efs*143 |
Frameshift |
15/46 |
- |
1 |
16-2108338-C-T |
c.6829G>A |
p.D2277N |
Missense |
15/46 |
- |
2 |
16-2108339-C-T |
c.6828G>A |
p.L2276= |
Synonymous |
15/46 |
- |
1 |
16-2108340-A-G |
c.6827T>C |
p.L2276P |
Missense |
15/46 |
- |
2 |
16-2108346-A-C |
c.6821T>G |
p.L2274R |
Missense |
15/46 |
- |
1 |
16-2108351-CC-AT |
c.6815_6816delinsAT |
p.R2272H |
Missense |
15/46 |
- |
1 |
16-2108351-C-T |
c.6816G>A |
p.R2272= |
Synonymous |
15/46 |
- |
1 |
16-2108352-C-T |
c.6815G>A |
p.R2272Q |
Missense |
15/46 |
- |
3 |
16-2108355-G-A |
c.6812C>T |
p.T2271I |
Missense |
15/46 |
- |
1 |
16-2108352-CGT-C |
c.6813_6814del |
p.R2272Gfs*147 |
Frameshift |
15/46 |
- |
1 |
16-2108355-GTGTC-G |
c.6808_6811del |
p.D2270Hfs*43 |
Frameshift |
15/46 |
- |
1 |
16-2108359-C-T |
c.6808G>A |
p.D2270N |
Missense |
15/46 |
- |
1 |
16-2108360-CTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCG-C |
c.6749_6807del |
p.T2250Rfs*150 |
Frameshift |
15/46 |
- |
1 |
16-2108361-G-C |
c.6806C>G |
p.S2269* |
Nonsense |
15/46 |
- |
1 |
16-2108363-C-A |
c.6804G>T |
p.W2268C |
Missense |
15/46 |
- |
1 |
16-2108363-C-G |
c.6804G>C |
p.W2268C |
Missense |
15/46 |
- |
1 |
16-2108362-AC-A |
c.6804del |
p.W2268Cfs*46 |
Frameshift |
15/46 |
- |
1 |
16-2108365-A-C |
c.6802T>G |
p.W2268G |
Missense |
15/46 |
- |
1 |
16-2108367-A-C |
c.6800T>G |
p.V2267G |
Missense |
15/46 |
- |
1 |
16-2108368-C-A |
c.6799G>T |
p.V2267L |
Missense |
15/46 |
- |
4 |
16-2108368-C-G |
c.6799G>C |
p.V2267L |
Missense |
15/46 |
- |
3 |
16-2108368-C-T |
c.6799G>A |
p.V2267M |
Missense |
15/46 |
- |
1 |
16-2108369-G-A |
c.6798C>T |
p.R2266= |
Synonymous |
15/46 |
- |
1 |
16-2108369-G-C |
c.6798C>G |
p.R2266= |
Synonymous |
15/46 |
- |
1 |
16-2108369-G-T |
c.6798C>A |
p.R2266= |
Synonymous |
15/46 |
- |
1 |
16-2108370-C-T |
c.6797G>A |
p.R2266H |
Missense |
15/46 |
- |
2 |
16-2108371-G-A |
c.6796C>T |
p.R2266C |
Missense |
15/46 |
- |
1 |
16-2108371-G-T |
c.6796C>A |
p.R2266S |
Missense |
15/46 |
- |
2 |
16-2108372-G-C |
c.6795C>G |
p.Y2265* |
Nonsense |
15/46 |
- |
1 |
16-2108372-G-T |
c.6795C>A |
p.Y2265* |
Nonsense |
15/46 |
- |
1 |
16-2108377-A-G |
c.6790T>C |
p.S2264P |
Missense |
15/46 |
- |
1 |
16-2108379-C-T |
c.6788G>A |
p.G2263D |
Missense |
15/46 |
- |
1 |
16-2108386-C-A |
c.6781G>T |
p.E2261* |
Nonsense |
15/46 |
- |
1 |
16-2108386-TC-T |
c.6781del |
p.E2261Rfs*53 |
Frameshift |
15/46 |
- |
1 |
16-2108387-CAAT-C |
c.6778_6780del |
p.I2260del |
InFrameDeletion |
15/46 |
- |
3 |
16-2108388-A-G |
c.6779T>C |
p.I2260T |
Missense |
15/46 |
- |
2 |
16-2108394-G-C |
c.6773C>G |
p.P2258R |
Missense |
15/46 |
- |
1 |
16-2108393-GGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGT-G |
c.6715_6773del |
p.T2239Hfs*3 |
Frameshift |
15/46 |
- |
1 |
16-2108396-C-T |
c.6771G>A |
p.V2257= |
Synonymous |
15/46 |
- |
1 |
16-2108398-C-A |
c.6769G>T |
p.V2257L |
Missense |
15/46 |
- |
2 |
16-2108398-C-G |
c.6769G>C |
p.V2257L |
Missense |
15/46 |
- |
1 |
16-2108399-C-A |
c.6768G>T |
p.L2256= |
Synonymous |
15/46 |
- |
1 |
16-2108400-A-C |
c.6767T>G |
p.L2256R |
Missense |
15/46 |
- |
1 |
16-2108401-G-C |
c.6766C>G |
p.L2256V |
Missense |
15/46 |
- |
1 |
16-2108403-C-T |
c.6764G>A |
p.R2255H |
Missense |
15/46 |
- |
1 |
16-2108404-G-A |
c.6763C>T |
p.R2255C |
Missense |
15/46 |
- |
3 |
16-2108407-C-G |
c.6760G>C |
p.E2254Q |
Missense |
15/46 |
- |
1 |
16-2108407-TC-T |
c.6760del |
p.E2254Sfs*60 |
Frameshift |
15/46 |
- |
1 |
16-2108408-G-A |
c.6759C>T |
p.P2253= |
Synonymous |
15/46 |
- |
1 |
16-2108408-G-T |
c.6759C>A |
p.P2253= |
Synonymous |
15/46 |
- |
2 |
16-2108407-CG-C |
c.6759del |
p.E2254Sfs*60 |
Frameshift |
15/46 |
- |
1 |
16-2108412-GCCA-G |
c.6752_6754del |
p.V2251del |
InFrameDeletion |
15/46 |
- |
1 |
16-2108417-C-T |
c.6750G>A |
p.T2250= |
Synonymous |
15/46 |
- |
2 |
16-2108418-G-A |
c.6749C>T |
p.T2250M |
Missense |
15/46 |
- |
17 |
16-2108428-C-T |
c.6739G>A |
p.A2247T |
Missense |
15/46 |
- |
4 |
16-2108431-G-A |
c.6736C>T |
p.Q2246* |
Nonsense |
15/46 |
- |
4 |
16-2108435-G-C |
c.6732C>G |
p.S2244R |
Missense |
15/46 |
- |
1 |
16-2108435-G-T |
c.6732C>A |
p.S2244R |
Missense |
15/46 |
- |
1 |
16-2108437-T-G |
c.6730A>C |
p.S2244R |
Missense |
15/46 |
- |
1 |
16-2108435-GCT-G |
c.6730_6731del |
p.S2244Hfs*17 |
Frameshift |
15/46 |
- |
3 |
16-2108436-CTCTG-C |
c.6727_6730del |
p.Q2243Afs*6 |
Frameshift |
15/46 |
- |
1 |
16-2108438-C-G |
c.6729G>C |
p.Q2243H |
Missense |
15/46 |
- |
1 |
16-2108439-T-C |
c.6728A>G |
p.Q2243R |
Missense |
15/46 |
- |
3 |
16-2108440-G-A |
c.6727C>T |
p.Q2243* |
Nonsense |
15/46 |
- |
7 |
16-2108438-CTG-C |
c.6727_6728del |
p.Q2243Efs*18 |
Frameshift |
15/46 |
- |
2 |
16-2108443-T-C |
c.6724A>G |
p.T2242A |
Missense |
15/46 |
- |
2 |
16-2108444-C-A |
c.6723G>T |
p.L2241= |
Synonymous |
15/46 |
- |
1 |
16-2108444-C-G |
c.6723G>C |
p.L2241= |
Synonymous |
15/46 |
- |
2 |
16-2108444-C-T |
c.6723G>A |
p.L2241= |
Synonymous |
15/46 |
- |
1 |
16-2108446-G-A |
c.6721C>T |
p.L2241= |
Synonymous |
15/46 |
- |
1 |
16-2108446-G-C |
c.6721C>G |
p.L2241V |
Missense |
15/46 |
- |
3 |
16-2108448-G-A |
c.6719C>T |
p.P2240L |
Missense |
15/46 |
- |
2 |
16-2108449-G-A |
c.6718C>T |
p.P2240S |
Missense |
15/46 |
- |
1 |
16-2108450-C-A |
c.6717G>T |
p.T2239= |
Synonymous |
15/46 |
- |
1 |
16-2108450-C-G |
c.6717G>C |
p.T2239= |
Synonymous |
15/46 |
- |
1 |
16-2108450-C-T |
c.6717G>A |
p.T2239= |
Synonymous |
15/46 |
- |
1 |
16-2108451-G-A |
c.6716C>T |
p.T2239M |
Missense |
15/46 |
- |
6 |
16-2108454-T-C |
c.6713A>G |
p.D2238G |
Missense |
15/46 |
- |
1 |
16-2108454-T-G |
c.6713A>C |
p.D2238A |
Missense |
15/46 |
- |
1 |
16-2108456-C-A |
c.6711G>T |
p.G2237= |
Synonymous |
15/46 |
- |
2 |
16-2108457-C-A |
c.6710G>T |
p.G2237V |
Missense |
15/46 |
- |
1 |
16-2108454-TC-T |
c.6712del |
p.D2238Tfs*4 |
Frameshift |
15/46 |
- |
1 |
16-2108458-C-T |
c.6709G>A |
p.G2237R |
Missense |
15/46 |
- |
1 |
16-2108461-A-G |
c.6706T>C |
p.F2236L |
Missense |
15/46 |
- |
2 |
16-2108463-G-A |
c.6704C>T |
p.S2235L |
Missense |
15/46 |
- |
5 |
16-2108463-G-C |
c.6704C>G |
p.S2235* |
Nonsense |
15/46 |
- |
1 |
16-2108463-G-T |
c.6704C>A |
p.S2235* |
Nonsense |
15/46 |
- |
2 |
16-2108467-C-T |
c.6700G>A |
p.V2234M |
Missense |
15/46 |
- |
3 |
16-2108472-A-G |
c.6695T>C |
p.F2232S |
Missense |
15/46 |
- |
1 |
16-2108471-A-C |
c.6696T>G |
p.F2232L |
Missense |
15/46 |
- |
1 |
16-2108471-A-T |
c.6696T>A |
p.F2232L |
Missense |
15/46 |
- |
1 |
16-2108473-A-G |
c.6694T>C |
p.F2232L |
Missense |
15/46 |
- |
1 |
16-2108474-C-T |
c.6693G>A |
p.V2231= |
Synonymous |
15/46 |
- |
1 |
16-2108476-CA-C |
c.6690del |
p.F2230Lfs*12 |
Frameshift |
15/46 |
- |
1 |
16-2108480-G-T |
c.6687C>A |
p.C2229* |
Nonsense |
15/46 |
- |
1 |
16-2108481-C-A |
c.6686G>T |
p.C2229F |
Missense |
15/46 |
- |
1 |
16-2108484-T-C |
c.6683A>G |
p.Y2228C |
Missense |
15/46 |
- |
1 |
16-2108486-G-C |
c.6681C>G |
p.H2227Q |
Missense |
15/46 |
- |
1 |
16-2108486-G-T |
c.6681C>A |
p.H2227Q |
Missense |
15/46 |
- |
1 |
16-2108493-A-G |
c.6674T>C |
p.V2225A |
Missense |
15/46 |
- |
1 |
16-2108495-CAGG-C |
c.6670_6672del |
p.P2224del |
InFrameDeletion |
15/46 |
- |
1 |
16-2108496-G-A |
c.6671C>T |
p.P2224L |
Missense |
15/46 |
- |
1 |
16-2108493-ACAGG-A |
c.6670_6673del |
p.P2224Wfs*17 |
Frameshift |
15/46 |
- |
1 |
16-2108497-G-T |
c.6670C>A |
p.P2224T |
Missense |
15/46 |
- |
1 |
16-2108497-G-GC |
c.6669dup |
p.P2224Afs*38 |
Frameshift |
15/46 |
- |
1 |
16-2108496-GGCA-G |
c.6668_6670del |
p.L2223del |
InFrameDeletion |
15/46 |
- |
1 |
16-2108500-G-C |
c.6667C>G |
p.L2223V |
Missense |
15/46 |
- |
1 |
16-2108501-C-A |
c.6666G>T |
p.A2222= |
Synonymous |
15/46 |
- |
3 |
16-2108501-C-G |
c.6666G>C |
p.A2222= |
Synonymous |
15/46 |
- |
3 |
16-2108501-C-T |
c.6666G>A |
p.A2222= |
Synonymous |
15/46 |
- |
4 |
16-2108495-AGGCAGCGCCAGCCGC-A |
c.6657_6671del |
p.R2220_P2224del |
InFrameDeletion |
15/46 |
- |
3 |
16-2108499-AGC-A |
c.6666_6667del |
p.L2223Afs*38 |
Frameshift |
15/46 |
- |
1 |
16-2108502-G-A |
c.6665C>T |
p.A2222V |
Missense |
15/46 |
- |
3 |
16-2108507-C-G |
c.6660G>C |
p.R2220= |
Synonymous |
15/46 |
- |
1 |
16-2108508-CCGCG-C |
c.6656_6659del |
p.P2219Rfs*22 |
Frameshift |
15/46 |
- |
1 |
16-2108509-G-A |
c.6658C>T |
p.R2220W |
Missense |
15/46 |
- |
13 |
16-2108510-C-A |
c.6657G>T |
p.P2219= |
Synonymous |
15/46 |
- |
1 |
16-2108510-C-G |
c.6657G>C |
p.P2219= |
Synonymous |
15/46 |
- |
1 |
16-2108510-C-T |
c.6657G>A |
p.P2219= |
Synonymous |
15/46 |
- |
1 |
16-2108511-G-A |
c.6656C>T |
p.P2219L |
Missense |
15/46 |
- |
2 |
16-2108512-G-A |
c.6655C>T |
p.P2219S |
Missense |
15/46 |
- |
1 |
16-2108515-AG-A |
c.6652del |
p.L2218Cfs*24 |
Frameshift |
15/46 |
- |
1 |
16-2108517-A-C |
c.6650T>G |
p.V2217G |
Missense |
15/46 |
- |
1 |
16-2108520-A-G |
c.6647T>C |
p.L2216P |
Missense |
15/46 |
- |
2 |
16-2108523-C-T |
c.6644G>A |
p.R2215Q |
Missense |
15/46 |
- |
1 |
16-2108524-G-A |
c.6643C>T |
p.R2215W |
Missense |
15/46 |
- |
3 |
16-2108529-C-T |
c.6638G>A |
p.R2213Q |
Missense |
15/46 |
- |
1 |
16-2108530-G-A |
c.6637C>T |
p.R2213W |
Missense |
15/46 |
- |
1 |
16-2108531-G-GCGCTGC |
c.6635_6636insGCAGCG |
p.S2212delinsRQR |
MultiAAMissense |
15/46 |
- |
1 |
16-2108532-C-T |
c.6635G>A |
p.S2212N |
Missense |
15/46 |
- |
1 |
16-2108532-GC-G |
c.6635del |
p.S2212Tfs*30 |
Frameshift |
15/46 |
- |
1 |
16-2108534-C-T |
c.6633G>A |
p.V2211= |
Synonymous |
15/46 |
- |
1 |
16-2108535-A-G |
c.6632T>C |
p.V2211A |
Missense |
15/46 |
- |
1 |
16-2108537-G-A |
c.6630C>T |
p.D2210= |
Synonymous |
15/46 |
- |
2 |
16-2108541-A-C |
c.6626T>G |
p.V2209G |
Missense |
15/46 |
- |
1 |
16-2108541-A-G |
c.6626T>C |
p.V2209A |
Missense |
15/46 |
- |
1 |
16-2108542-C-T |
c.6625G>A |
p.V2209M |
Missense |
15/46 |
- |
1 |
16-2108543-G-A |
c.6624C>T |
p.G2208= |
Synonymous |
15/46 |
- |
1 |
16-2108549-C-G |
c.6618G>C |
p.L2206= |
Synonymous |
15/46 |
- |
1 |
16-2108558-ACG-CAT |
c.6607_6609delinsATG |
p.R2203M |
Missense |
15/46 |
- |
1 |
16-2108558-ACG-CCA |
c.6607_6609delinsTGG |
p.R2203W |
Missense |
15/46 |
- |
1 |
16-2108558-AC-TT |
c.6608_6609delinsAA |
p.R2203Q |
Missense |
15/46 |
- |
1 |
16-2108559-C-A |
c.6608G>T |
p.R2203L |
Missense |
15/46 |
- |
2 |
16-2108559-C-T |
c.6608G>A |
p.R2203H |
Missense |
15/46 |
- |
2 |
16-2108560-G-A |
c.6607C>T |
p.R2203C |
Missense |
15/46 |
- |
1 |
16-2108562-G-A |
c.6605C>T |
p.A2202V |
Missense |
15/46 |
- |
1 |
16-2108564-T-C |
c.6603A>G |
p.P2201= |
Synonymous |
15/46 |
- |
2 |
16-2108567-G-T |
c.6600C>A |
p.R2200= |
Synonymous |
15/46 |
- |
1 |
16-2108568-C-T |
c.6599G>A |
p.R2200H |
Missense |
15/46 |
- |
2 |
16-2108569-G-A |
c.6598C>T |
p.R2200C |
Missense |
15/46 |
- |
16 |
16-2108569-G-T |
c.6598C>A |
p.R2200S |
Missense |
15/46 |
- |
2 |
16-2108573-C-A |
c.6594G>T |
p.P2198= |
Synonymous |
15/46 |
- |
2 |
16-2108573-C-G |
c.6594G>C |
p.P2198= |
Synonymous |
15/46 |
- |
1 |
16-2108573-C-T |
c.6594G>A |
p.P2198= |
Synonymous |
15/46 |
- |
4 |
16-2108574-G-T |
c.6593C>A |
p.P2198Q |
Missense |
15/46 |
- |
1 |
16-2108576-CC-AT |
c.6590_6591delinsAT |
p.R2197H |
Missense |
15/46 |
- |
1 |
16-2108578-G-A |
c.6589C>T |
p.R2197W |
Missense |
15/46 |
- |
3 |
16-2108581-G-A |
c.6586C>T |
p.Q2196* |
Nonsense |
15/46 |
- |
5 |
16-2108582-G-T |
c.6585C>A |
p.C2195* |
Nonsense |
15/46 |
- |
1 |
16-2108577-CGCTGGCA-C |
c.6583_6589del |
p.C2195Gfs*15 |
Frameshift |
15/46 |
- |
4 |
16-2108585-G-A |
c.6582C>T |
p.S2194= |
Synonymous |
15/46 |
- |
1 |
16-2108585-G-C |
c.6582C>G |
p.S2194R |
Missense |
15/46 |
- |
1 |
16-2108585-G-T |
c.6582C>A |
p.S2194R |
Missense |
15/46 |
- |
1 |
16-2108587-T-G |
c.6580A>C |
p.S2194R |
Missense |
15/46 |
- |
1 |
16-2108586-C-A |
c.6581G>T |
p.S2194I |
Missense |
15/46 |
- |
1 |
16-2108587-CTGGCGGT-C |
c.6574_6580del |
p.T2192Afs*18 |
Frameshift |
15/46 |
- |
2 |
16-2108587-T-A |
c.6580A>T |
p.S2194C |
Missense |
15/46 |
- |
1 |
16-2108588-G-A |
c.6579C>T |
p.A2193= |
Synonymous |
15/46 |
- |
1 |
16-2108591-G-A |
c.6576C>T |
p.T2192= |
Synonymous |
15/46 |
- |
1 |
16-2108591-G-C |
c.6576C>G |
p.T2192= |
Synonymous |
15/46 |
- |
1 |
16-2108591-G-T |
c.6576C>A |
p.T2192= |
Synonymous |
15/46 |
- |
1 |
16-2108593-T-A |
c.6574A>T |
p.T2192S |
Missense |
15/46 |
- |
1 |
16-2108594-GC-TT |
c.6572_6573delinsAA |
p.R2191Q |
Missense |
15/46 |
- |
1 |
16-2108596-G-A |
c.6571C>T |
p.R2191C |
Missense |
15/46 |
- |
1 |
16-2108596-G-T |
c.6571C>A |
p.R2191S |
Missense |
15/46 |
- |
1 |
16-2108599-TACACCTCCCAG-T |
c.6558_6568del |
p.W2187Sfs*71 |
Frameshift |
15/46 |
- |
1 |
16-2108606-C-T |
c.6561G>A |
p.W2187* |
Nonsense |
15/46 |
- |
4 |
16-2108607-C-T |
c.6560G>A |
p.W2187* |
Nonsense |
15/46 |
- |
2 |
16-2108611-G-A |
c.6556C>T |
p.R2186C |
Missense |
15/46 |
- |
1 |
16-2108612-G-C |
c.6555C>G |
p.Y2185* |
Nonsense |
15/46 |
- |
1 |
16-2108613-T-C |
c.6554A>G |
p.Y2185C |
Missense |
15/46 |
- |
1 |
16-2108614-A-C |
c.6553T>G |
p.Y2185D |
Missense |
15/46 |
- |
2 |
16-2108617-C-G |
c.6550G>C |
p.E2184Q |
Missense |
15/46 |
- |
1 |
16-2108617-TCA-T |
c.6549_6550del |
p.E2184Vfs*77 |
Frameshift |
15/46 |
- |
1 |
16-2108615-CTCAG-C |
c.6548_6551del |
p.T2183Sfs*28 |
Frameshift |
15/46 |
- |
1 |
16-2108617-C-CA |
c.6549dup |
p.E2184* |
Nonsense |
15/46 |
- |
1 |
16-2108619-G-A |
c.6548C>T |
p.T2183I |
Missense |
15/46 |
- |
2 |
16-2108622-T-C |
c.6545A>G |
p.Q2182R |
Missense |
15/46 |
- |
3 |
16-2108623-G-A |
c.6544C>T |
p.Q2182* |
Nonsense |
15/46 |
- |
3 |
16-2108623-G-C |
c.6544C>G |
p.Q2182E |
Missense |
15/46 |
- |
2 |
16-2108624-G-C |
c.6543C>G |
p.Y2181* |
Nonsense |
15/46 |
- |
1 |
16-2108630-TG-T |
c.6537del |
p.T2180Pfs*32 |
Frameshift |
15/46 |
- |
1 |
16-2108632-C-T |
c.6535G>A |
p.V2179I |
Missense |
15/46 |
- |
5 |
16-2108633-G-A |
c.6534C>T |
p.C2178= |
Synonymous |
15/46 |
- |
1 |
16-2108633-G-T |
c.6534C>A |
p.C2178* |
Nonsense |
15/46 |
- |
1 |
16-2108634-C-T |
c.6533G>A |
p.C2178Y |
Missense |
15/46 |
- |
1 |
16-2108635-A-T |
c.6532T>A |
p.C2178S |
Missense |
15/46 |
- |
1 |
16-2108637-T-TC |
c.6529dup |
p.D2177Gfs*8 |
Frameshift |
15/46 |
- |
1 |
16-2108638-C-A |
c.6529G>T |
p.D2177Y |
Missense |
15/46 |
- |
1 |
16-2108641-G-A |
c.6526C>T |
p.R2176C |
Missense |
15/46 |
- |
1 |
16-2108644-G-T |
c.6523C>A |
p.L2175M |
Missense |
15/46 |
- |
4 |
16-2108649-A-C |
c.6518T>G |
p.V2173G |
Missense |
15/46 |
- |
1 |
16-2108649-A-T |
c.6518T>A |
p.V2173D |
Missense |
15/46 |
- |
1 |
16-2108650-C-T |
c.6517G>A |
p.V2173I |
Missense |
15/46 |
- |
1 |
16-2108655-G-C |
c.6512C>G |
p.A2171G |
Missense |
15/46 |
- |
2 |
16-2108663-G-T |
c.6504C>A |
p.Y2168* |
Nonsense |
15/46 |
- |
1 |
16-2108664-T-C |
c.6503A>G |
p.Y2168C |
Missense |
15/46 |
- |
1 |
16-2108666-G-C |
c.6501C>G |
p.N2167K |
Missense |
15/46 |
- |
1 |
16-2108667-T-G |
c.6500A>C |
p.N2167T |
Missense |
15/46 |
- |
1 |
16-2108668-T-C |
c.6499A>G |
p.N2167D |
Missense |
15/46 |
- |
1 |
16-2108670-C-A |
c.6497G>T |
p.R2166L |
Missense |
15/46 |
- |
1 |
16-2108671-G-A |
c.6496C>T |
p.R2166C |
Missense |
15/46 |
- |
6 |
16-2108671-G-C |
c.6496C>G |
p.R2166G |
Missense |
15/46 |
- |
2 |
16-2108674-G-A |
c.6493C>T |
p.Q2165* |
Nonsense |
15/46 |
- |
1 |
16-2108676-G-C |
c.6491C>G |
p.S2164* |
Nonsense |
15/46 |
- |
3 |
16-2108676-G-T |
c.6491C>A |
p.S2164* |
Nonsense |
15/46 |
- |
2 |
16-2108678-T-A |
c.6489A>T |
p.R2163= |
Synonymous |
15/46 |
- |
1 |
16-2108679-C-A |
c.6488G>T |
p.R2163L |
Missense |
15/46 |
- |
1 |
16-2108679-C-T |
c.6488G>A |
p.R2163Q |
Missense |
15/46 |
- |
6 |
16-2108680-G-A |
c.6487C>T |
p.R2163* |
Nonsense |
15/46 |
- |
6 |
16-2108682-C-T |
c.6485G>A |
p.R2162Q |
Missense |
15/46 |
- |
1 |
16-2108681-C-A |
c.6486G>T |
p.R2162= |
Synonymous |
15/46 |
- |
1 |
16-2108681-C-G |
c.6486G>C |
p.R2162= |
Synonymous |
15/46 |
- |
1 |
16-2108681-C-T |
c.6486G>A |
p.R2162= |
Synonymous |
15/46 |
- |
1 |
16-2108683-G-A |
c.6484C>T |
p.R2162W |
Missense |
15/46 |
- |
2 |
16-2108683-G-T |
c.6484C>A |
p.R2162= |
Synonymous |
15/46 |
- |
1 |
16-2108692-C-A |
c.6475G>T |
p.V2159L |
Missense |
15/46 |
- |
2 |
16-2108695-G-A |
c.6472C>T |
p.Q2158* |
Nonsense |
15/46 |
- |
6 |
16-2108700-G-A |
c.6467C>T |
p.P2156L |
Missense |
15/46 |
- |
1 |
16-2108697-AG-A |
c.6469del |
p.L2157Cfs*4 |
Frameshift |
15/46 |
- |
1 |
16-2108701-G-A |
c.6466C>T |
p.P2156S |
Missense |
15/46 |
- |
1 |
16-2108701-GGC-G |
c.6465_6466del |
p.L2157Afs*17 |
Frameshift |
15/46 |
- |
1 |
16-2108701-GCAGGA-G |
c.6461_6465del |
p.V2154Afs*19 |
Frameshift |
15/46 |
- |
1 |
16-2108704-G-A |
c.6463C>T |
p.L2155= |
Synonymous |
15/46 |
- |
1 |
16-2108704-G-C |
c.6463C>G |
p.L2155V |
Missense |
15/46 |
- |
1 |
16-2108707-C-G |
c.6460G>C |
p.V2154L |
Missense |
15/46 |
- |
1 |
16-2108711-G-A |
c.6456C>T |
p.D2152= |
Synonymous |
15/46 |
- |
1 |
16-2108711-G-T |
c.6456C>A |
p.D2152E |
Missense |
15/46 |
- |
1 |
16-2108720-C-A |
c.6447G>T |
p.P2149= |
Synonymous |
15/46 |
- |
1 |
16-2108720-C-G |
c.6447G>C |
p.P2149= |
Synonymous |
15/46 |
- |
1 |
16-2108720-C-T |
c.6447G>A |
p.P2149= |
Synonymous |
15/46 |
- |
3 |
16-2108721-G-A |
c.6446C>T |
p.P2149L |
Missense |
15/46 |
- |
1 |
16-2108722-G-T |
c.6445C>A |
p.P2149T |
Missense |
15/46 |
- |
1 |
16-2108726-CCG-ACA |
c.6439_6441delinsTGT |
p.R2147C |
Missense |
15/46 |
- |
1 |
16-2108727-C-T |
c.6440G>A |
p.R2147Q |
Missense |
15/46 |
- |
1 |
16-2108728-G-A |
c.6439C>T |
p.R2147W |
Missense |
15/46 |
- |
1 |
16-2108737-G-C |
c.6430C>G |
p.L2144V |
Missense |
15/46 |
- |
1 |
16-2108743-G-A |
c.6424C>T |
p.Q2142* |
Nonsense |
15/46 |
- |
5 |
16-2108742-TG-T |
c.6424del |
p.Q2142Rfs*19 |
Frameshift |
15/46 |
- |
1 |
16-2108746-C-A |
c.6421G>T |
p.V2141F |
Missense |
15/46 |
- |
1 |
16-2108755-T-A |
c.6412A>T |
p.T2138S |
Missense |
15/46 |
- |
1 |
16-2108755-T-C |
c.6412A>G |
p.T2138A |
Missense |
15/46 |
- |
1 |
16-2108762-C-T |
c.6405G>A |
p.A2135= |
Synonymous |
15/46 |
- |
1 |
16-2108763-G-A |
c.6404C>T |
p.A2135V |
Missense |
15/46 |
- |
2 |
16-2108768-G-A |
c.6399C>T |
p.F2133= |
Synonymous |
15/46 |
- |
1 |
16-2108771-G-A |
c.6396C>T |
p.F2132= |
Synonymous |
15/46 |
- |
1 |
16-2108767-CGAA-C |
c.6397_6399del |
p.F2133del |
InFrameDeletion |
15/46 |
- |
3 |
16-2108772-A-C |
c.6395T>G |
p.F2132C |
Missense |
15/46 |
- |
5 |
16-2108773-A-G |
c.6394T>C |
p.F2132L |
Missense |
15/46 |
- |
1 |
16-2108775-C-T |
c.6392G>A |
p.S2131N |
Missense |
15/46 |
- |
2 |
16-2108778-A-C |
c.6389T>G |
p.V2130G |
Missense |
15/46 |
- |
2 |
16-2108783-G-A |
c.6384C>T |
p.N2128= |
Synonymous |
15/46 |
- |
1 |
16-2108783-G-T |
c.6384C>A |
p.N2128K |
Missense |
15/46 |
- |
2 |
16-2108796-A-T |
c.6371T>A |
p.V2124E |
Missense |
15/46 |
- |
1 |
16-2108800-G-A |
c.6367C>T |
p.Q2123* |
Nonsense |
15/46 |
- |
1 |
16-2108801-CAC-GAT |
c.6364_6366delinsATC |
p.V2122I |
Missense |
15/46 |
- |
1 |
16-2108802-A-C |
c.6365T>G |
p.V2122G |
Missense |
15/46 |
- |
1 |
16-2108803-AC-A |
c.6364del |
p.V2122Cfs*3 |
Frameshift |
15/46 |
- |
1 |
16-2108804-G-A |
c.6363C>T |
p.R2121= |
Synonymous |
15/46 |
- |
2 |
16-2108804-G-C |
c.6363C>G |
p.R2121= |
Synonymous |
15/46 |
- |
1 |
16-2108804-G-T |
c.6363C>A |
p.R2121= |
Synonymous |
15/46 |
- |
1 |
16-2108811-GT-G |
c.6356del |
p.D2119Afs*6 |
Frameshift |
15/46 |
- |
1 |
16-2108811-T-C |
c.6356A>G |
p.D2119G |
Missense |
15/46 |
- |
1 |
16-2108812-C-T |
c.6355G>A |
p.D2119N |
Missense |
15/46 |
- |
1 |
16-2108817-G-A |
c.6350C>T |
p.P2117L |
Missense |
15/46 |
- |
1 |
16-2108817-G-T |
c.6350C>A |
p.P2117H |
Missense |
15/46 |
- |
2 |
16-2108826-T-C |
c.6341A>G |
p.Y2114C |
Missense |
15/46 |
- |
3 |
16-2108829-G-A |
c.6338C>T |
p.S2113F |
Missense |
15/46 |
- |
1 |
16-2108832-T-A |
c.6335A>T |
p.H2112L |
Missense |
15/46 |
- |
1 |
16-2108836-C-T |
c.6331G>A |
p.E2111K |
Missense |
15/46 |
- |
3 |
16-2108837-G-A |
c.6330C>T |
p.A2110= |
Synonymous |
15/46 |
- |
1 |
16-2108838-G-A |
c.6329C>T |
p.A2110V |
Missense |
15/46 |
- |
1 |
16-2108839-C-A |
c.6328G>T |
p.A2110S |
Missense |
15/46 |
- |
1 |
16-2108842-T-C |
c.6325A>G |
p.R2109G |
Missense |
15/46 |
- |
1 |
16-2108860-G-A |
c.6307C>T |
p.Q2103* |
Nonsense |
15/46 |
- |
3 |
16-2108861-C-T |
c.6306G>A |
p.G2102= |
Synonymous |
15/46 |
- |
1 |
16-2108867-C-A |
c.6300G>T |
p.S2100= |
Synonymous |
15/46 |
- |
2 |
16-2108867-C-G |
c.6300G>C |
p.S2100= |
Synonymous |
15/46 |
- |
2 |
16-2108867-C-T |
c.6300G>A |
p.S2100= |
Synonymous |
15/46 |
- |
2 |
16-2108868-G-A |
c.6299C>T |
p.S2100L |
Missense |
15/46 |
- |
1 |
16-2108870-C-A |
c.6297G>T |
p.G2099= |
Synonymous |
15/46 |
- |
1 |
16-2108871-C-A |
c.6296G>T |
p.G2099V |
Missense |
15/46 |
- |
1 |
16-2108874-T-C |
c.6293A>G |
p.D2098G |
Missense |
15/46 |
- |
1 |
16-2108874-T-G |
c.6293A>C |
p.D2098A |
Missense |
15/46 |
- |
1 |
16-2108876-C-G |
c.6291G>C |
p.G2097= |
Synonymous |
15/46 |
- |
1 |
16-2108877-C-A |
c.6290G>T |
p.G2097V |
Missense |
15/46 |
- |
1 |
16-2108880-A-C |
c.6287T>G |
p.F2096C |
Missense |
15/46 |
- |
2 |
16-2108882-G-T |
c.6285C>A |
p.D2095E |
Missense |
15/46 |
- |
3 |
16-2108884-C-A |
c.6283G>T |
p.D2095Y |
Missense |
15/46 |
- |
1 |
16-2108885-C-A |
c.6282G>T |
p.W2094C |
Missense |
15/46 |
- |
1 |
16-2108885-C-T |
c.6282G>A |
p.W2094* |
Nonsense |
15/46 |
- |
2 |
16-2108886-C-A |
c.6281G>T |
p.W2094L |
Missense |
15/46 |
- |
1 |
16-2108892-T-C |
c.6275A>G |
p.Y2092C |
Missense |
15/46 |
- |
3 |
16-2108895-G-A |
c.6272C>T |
p.A2091V |
Missense |
15/46 |
- |
1 |
16-2108900-A-C |
c.6267T>G |
p.R2089= |
Synonymous |
15/46 |
- |
1 |
16-2108900-AC-TT |
c.6266_6267delinsAA |
p.R2089Q |
Missense |
15/46 |
- |
1 |
16-2108900-A-G |
c.6267T>C |
p.R2089= |
Synonymous |
15/46 |
- |
1 |
16-2108900-A-T |
c.6267T>A |
p.R2089= |
Synonymous |
15/46 |
- |
1 |
16-2108902-G-A |
c.6265C>T |
p.R2089C |
Missense |
15/46 |
- |
1 |
16-2108903-CCG-ACA |
c.6262_6264delinsTGT |
p.R2088C |
Missense |
15/46 |
- |
1 |
16-2108902-G-GC |
c.6264dup |
p.R2089Afs*19 |
Frameshift |
15/46 |
- |
1 |
16-2108905-G-C |
c.6262C>G |
p.R2088G |
Missense |
15/46 |
- |
1 |
16-2108909-G-A |
c.6258C>T |
p.S2086= |
Synonymous |
15/46 |
- |
1 |
16-2108911-CTGGG-C |
c.6253_6256del |
p.P2085Afs*30 |
Frameshift |
15/46 |
- |
1 |
16-2108913-G-C |
c.6254C>G |
p.P2085R |
Missense |
15/46 |
- |
1 |
16-2108911-TG-T |
c.6255del |
p.S2086Afs*30 |
Frameshift |
15/46 |
- |
1 |
16-2108918-G-A |
c.6249C>T |
p.T2083= |
Synonymous |
15/46 |
- |
2 |
16-2108919-G-A |
c.6248C>T |
p.T2083I |
Missense |
15/46 |
- |
2 |
16-2108921-G-A |
c.6246C>T |
p.A2082= |
Synonymous |
15/46 |
- |
1 |
16-2108922-G-A |
c.6245C>T |
p.A2082V |
Missense |
15/46 |
- |
1 |
16-2108923-C-T |
c.6244G>A |
p.A2082T |
Missense |
15/46 |
- |
3 |
16-2108924-G-A |
c.6243C>T |
p.A2081= |
Synonymous |
15/46 |
- |
3 |
16-2108924-G-C |
c.6243C>G |
p.A2081= |
Synonymous |
15/46 |
- |
1 |
16-2108924-G-T |
c.6243C>A |
p.A2081= |
Synonymous |
15/46 |
- |
1 |
16-2108926-C-G |
c.6241G>C |
p.A2081P |
Missense |
15/46 |
- |
1 |
16-2108929-C-G |
c.6238G>C |
p.E2080Q |
Missense |
15/46 |
- |
1 |
16-2108931-A-C |
c.6236T>G |
p.F2079C |
Missense |
15/46 |
- |
1 |
16-2108933-C-A |
c.6234G>T |
p.Q2078H |
Missense |
15/46 |
- |
1 |
16-2108933-C-G |
c.6234G>C |
p.Q2078H |
Missense |
15/46 |
- |
1 |
16-2108937-G-A |
c.6230C>T |
p.A2077V |
Missense |
15/46 |
- |
2 |
16-2108940-G-A |
c.6227C>T |
p.S2076L |
Missense |
15/46 |
- |
1 |
16-2108943-C-CAA |
c.6223_6224insTT |
p.R2075Lfs*42 |
Frameshift |
15/46 |
- |
1 |
16-2108943-C-G |
c.6224G>C |
p.R2075P |
Missense |
15/46 |
- |
1 |
16-2108944-G-A |
c.6223C>T |
p.R2075C |
Missense |
15/46 |
- |
4 |
16-2108945-GT-G |
c.6221del |
p.N2074Tfs*42 |
Frameshift |
15/46 |
- |
1 |
16-2108948-GG-CA |
c.6218_6219delinsTG |
p.T2073M |
Missense |
15/46 |
- |
1 |
16-2108958-G-C |
c.6209C>G |
p.P2070R |
Missense |
15/46 |
- |
2 |
16-2108956-AGG-A |
c.6209_6210del |
p.P2070Lfs*10 |
Frameshift |
15/46 |
- |
1 |
16-2108959-G-A |
c.6208C>T |
p.P2070S |
Missense |
15/46 |
- |
1 |
16-2108966-C-A |
c.6201G>T |
p.Q2067H |
Missense |
15/46 |
- |
1 |
16-2108966-C-G |
c.6201G>C |
p.Q2067H |
Missense |
15/46 |
- |
1 |
16-2108967-T-C |
c.6200A>G |
p.Q2067R |
Missense |
15/46 |
- |
2 |
16-2108968-G-A |
c.6199C>T |
p.Q2067* |
Nonsense |
15/46 |
- |
3 |
16-2108971-G-C |
c.6196C>G |
p.L2066V |
Missense |
15/46 |
- |
2 |
16-2108972-G-A |
c.6195C>T |
p.A2065= |
Synonymous |
15/46 |
- |
1 |
16-2108974-C-T |
c.6193G>A |
p.A2065T |
Missense |
15/46 |
- |
1 |
16-2108981-C-A |
c.6186G>T |
p.Q2062H |
Missense |
15/46 |
- |
1 |
16-2108981-C-G |
c.6186G>C |
p.Q2062H |
Missense |
15/46 |
- |
1 |
16-2108983-G-A |
c.6184C>T |
p.Q2062* |
Nonsense |
15/46 |
- |
6 |
16-2108986-C-T |
c.6181G>A |
p.V2061I |
Missense |
15/46 |
- |
4 |
16-2108988-G-C |
c.6179C>G |
p.A2060G |
Missense |
15/46 |
- |
2 |
16-2108990-G-A |
c.6177C>T |
p.D2059= |
Synonymous |
15/46 |
- |
1 |
16-2108994-T-C |
c.6173A>G |
p.Q2058R |
Missense |
15/46 |
- |
2 |
16-2108994-T-G |
c.6173A>C |
p.Q2058P |
Missense |
15/46 |
- |
1 |
16-2108995-G-A |
c.6172C>T |
p.Q2058* |
Nonsense |
15/46 |
- |
1 |
16-2109012-G-GTT |
c.6154_6155insAA |
p.T2052Kfs*65 |
Frameshift |
15/46 |
- |
1 |
16-2109014-G-A |
c.6153C>T |
p.R2051= |
Synonymous |
15/46 |
- |
1 |
16-2109015-C-G |
c.6152G>C |
p.R2051P |
Missense |
15/46 |
- |
2 |
16-2109015-C-T |
c.6152G>A |
p.R2051H |
Missense |
15/46 |
- |
1 |
16-2109016-G-A |
c.6151C>T |
p.R2051C |
Missense |
15/46 |
- |
2 |
16-2109022-C-T |
c.6145G>A |
p.E2049K |
Missense |
15/46 |
- |
2 |
16-2109026-GC-CT |
c.6140_6141delinsAG |
p.G2047E |
Missense |
15/46 |
- |
1 |
16-2109028-C-A |
c.6139G>T |
p.G2047C |
Missense |
15/46 |
- |
3 |
16-2109029-CA-AT |
c.6137_6138delinsAT |
p.L2046H |
Missense |
15/46 |
- |
1 |
16-2109030-A-G |
c.6137T>C |
p.L2046P |
Missense |
15/46 |
- |
3 |
16-2109030-CA-C |
c.6137del |
p.L2046Rfs*70 |
Frameshift |
15/46 |
- |
1 |
16-2109031-G-A |
c.6136C>T |
p.L2046= |
Synonymous |
15/46 |
- |
1 |
16-2109037-T-C |
c.6130A>G |
p.N2044D |
Missense |
15/46 |
- |
2 |
16-2109037-T-G |
c.6130A>C |
p.N2044H |
Missense |
15/46 |
- |
1 |
16-2109042-G-T |
c.6125C>A |
p.A2042D |
Missense |
15/46 |
- |
1 |
16-2109044-G-A |
c.6123C>T |
p.R2041= |
Synonymous |
15/46 |
- |
1 |
16-2109044-G-C |
c.6123C>G |
p.R2041= |
Synonymous |
15/46 |
- |
1 |
16-2109044-G-T |
c.6123C>A |
p.R2041= |
Synonymous |
15/46 |
- |
1 |
16-2109041-GGC-G |
c.6124_6125del |
p.A2042Lfs*7 |
Frameshift |
15/46 |
- |
1 |
16-2109046-CG-C |
c.6121del |
p.R2041Afs*75 |
Frameshift |
15/46 |
- |
1 |
16-2109052-G-A |
c.6115C>T |
p.Q2039* |
Nonsense |
15/46 |
- |
4 |
16-2109052-G-C |
c.6115C>G |
p.Q2039E |
Missense |
15/46 |
- |
1 |
16-2109058-C-A |
c.6109G>T |
p.E2037* |
Nonsense |
15/46 |
- |
1 |
16-2109057-T-TC |
c.6109dup |
p.E2037Gfs*13 |
Frameshift |
15/46 |
- |
1 |
16-2109059-C-A |
c.6108G>T |
p.L2036F |
Missense |
15/46 |
- |
1 |
16-2109059-C-G |
c.6108G>C |
p.L2036F |
Missense |
15/46 |
- |
1 |
16-2109065-CCC-GCT |
c.6100_6102delinsAGC |
p.G2034S |
Missense |
15/46 |
- |
1 |
16-2109066-C-T |
c.6101G>A |
p.G2034E |
Missense |
15/46 |
- |
1 |
16-2109067-C-G |
c.6100G>C |
p.G2034R |
Missense |
15/46 |
- |
1 |
16-2109067-C-T |
c.6100G>A |
p.G2034R |
Missense |
15/46 |
- |
4 |
16-2109064-GC-G |
c.6102del |
p.L2035Cfs*81 |
Frameshift |
15/46 |
- |
1 |
16-2109068-C-A |
c.6099G>T |
p.A2033= |
Synonymous |
15/46 |
- |
1 |
16-2109068-C-G |
c.6099G>C |
p.A2033= |
Synonymous |
15/46 |
- |
1 |
16-2109068-C-T |
c.6099G>A |
p.A2033= |
Synonymous |
15/46 |
- |
1 |
16-2109070-C-T |
c.6097G>A |
p.A2033T |
Missense |
15/46 |
- |
1 |
16-2109071-G-A |
c.6096C>T |
p.A2032= |
Synonymous |
15/46 |
- |
3 |
16-2109071-G-C |
c.6096C>G |
p.A2032= |
Synonymous |
15/46 |
- |
1 |
16-2109071-G-T |
c.6096C>A |
p.A2032= |
Synonymous |
15/46 |
- |
1 |
16-2109072-G-A |
c.6095C>T |
p.A2032V |
Missense |
15/46 |
- |
2 |
16-2109072-G-T |
c.6095C>A |
p.A2032D |
Missense |
15/46 |
- |
1 |
16-2109069-GCGGCCA-G |
c.6092_6097del |
p.V2031_A2032del |
InFrameDeletion |
15/46 |
- |
1 |
16-2109076-AC-A |
c.6091del |
p.V2031Wfs*85 |
Frameshift |
15/46 |
- |
1 |
16-2109076-C-A |
c.6091G>T |
p.V2031L |
Missense |
15/46 |
- |
2 |
16-2109076-C-G |
c.6091G>C |
p.V2031L |
Missense |
15/46 |
- |
2 |
16-2109076-C-T |
c.6091G>A |
p.V2031M |
Missense |
15/46 |
- |
4 |
16-2109077-G-A |
c.6090C>T |
p.P2030= |
Synonymous |
15/46 |
- |
1 |
16-2109076-CG-C |
c.6090del |
p.V2031Wfs*85 |
Frameshift |
15/46 |
- |
2 |
16-2109081-G-A |
c.6086C>T |
p.T2029M |
Missense |
15/46 |
- |
3 |
16-2109083-G-C |
c.6084C>G |
p.Y2028* |
Nonsense |
15/46 |
- |
1 |
16-2109083-G-T |
c.6084C>A |
p.Y2028* |
Nonsense |
15/46 |
- |
1 |
16-2109084-T-G |
c.6083A>C |
p.Y2028S |
Missense |
15/46 |
- |
1 |
16-2109087-G-C |
c.6080C>G |
p.T2027S |
Missense |
15/46 |
- |
2 |
16-2109087-G-T |
c.6080C>A |
p.T2027N |
Missense |
15/46 |
- |
1 |
16-2109088-T-A |
c.6079A>T |
p.T2027S |
Missense |
15/46 |
- |
1 |
16-2109089-G-A |
c.6078C>T |
p.V2026= |
Synonymous |
15/46 |
- |
1 |
16-2109089-G-C |
c.6078C>G |
p.V2026= |
Synonymous |
15/46 |
- |
1 |
16-2109089-G-T |
c.6078C>A |
p.V2026= |
Synonymous |
15/46 |
- |
1 |
16-2109090-A-G |
c.6077T>C |
p.V2026A |
Missense |
15/46 |
- |
1 |
16-2109092-G-A |
c.6075C>T |
p.D2025= |
Synonymous |
15/46 |
- |
1 |
16-2109097-G-A |
c.6070C>T |
p.R2024C |
Missense |
15/46 |
- |
6 |
16-2109099-C-G |
c.6068G>C |
p.G2023A |
Missense |
15/46 |
- |
1 |
16-2109101-C-T |
c.6066G>A |
p.S2022= |
Synonymous |
15/46 |
- |
4 |
16-2109102-G-A |
c.6065C>T |
p.S2022L |
Missense |
15/46 |
- |
4 |
16-2109104-C-T |
c.6063G>A |
p.L2021= |
Synonymous |
15/46 |
- |
1 |
16-2109105-A-G |
c.6062T>C |
p.L2021P |
Missense |
15/46 |
- |
2 |
16-2109117-G-A |
c.6050C>T |
p.S2017L |
Missense |
15/46 |
- |
2 |
16-2109117-G-T |
c.6050C>A |
p.S2017* |
Nonsense |
15/46 |
- |
1 |
16-2109121-C-A |
c.6046G>T |
p.D2016Y |
Missense |
15/46 |
- |
1 |
16-2109123-CCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGA-C |
c.6005_6043del |
p.V2002_Q2014del |
InFrameDeletion |
15/46 |
- |
1 |
16-2109127-G-A |
c.6040C>T |
p.Q2014* |
Nonsense |
15/46 |
- |
4 |
16-2109129-A-G |
c.6038T>C |
p.V2013A |
Missense |
15/46 |
- |
1 |
16-2109131-C-T |
c.6036G>A |
p.K2012= |
Synonymous |
15/46 |
- |
1 |
16-2109134-C-T |
c.6033G>A |
p.Q2011= |
Synonymous |
15/46 |
- |
1 |
16-2109135-T-C |
c.6032A>G |
p.Q2011R |
Missense |
15/46 |
- |
1 |
16-2109141-G-A |
c.6026C>T |
p.S2009L |
Missense |
15/46 |
- |
1 |
16-2109146-G-A |
c.6021C>T |
p.Y2007= |
Synonymous |
15/46 |
- |
4 |
16-2109149-C-A |
c.6018G>T |
p.W2006C |
Missense |
15/46 |
- |
2 |
16-2109149-C-G |
c.6018G>C |
p.W2006C |
Missense |
15/46 |
- |
3 |
16-2109151-A-C |
c.6016T>G |
p.W2006G |
Missense |
15/46 |
- |
1 |
16-2109155-G-T |
c.6012C>A |
p.Y2004* |
Nonsense |
15/46 |
- |
1 |
16-2109157-TA-T |
c.6010del |
p.Y2004Tfs*112 |
Frameshift |
15/46 |
- |
1 |
16-2109160-C-T |
c.6007G>A |
p.A2003T |
Missense |
15/46 |
- |
3 |
16-2109161-G-A |
c.6006C>T |
p.V2002= |
Synonymous |
15/46 |
- |
1 |
16-2109161-G-C |
c.6006C>G |
p.V2002= |
Synonymous |
15/46 |
- |
1 |
16-2109161-G-T |
c.6006C>A |
p.V2002= |
Synonymous |
15/46 |
- |
1 |
16-2109166-G-A |
c.6001C>T |
p.R2001W |
Missense |
15/46 |
- |
1 |
16-2109168-G-C |
c.5999C>G |
p.S2000C |
Missense |
15/46 |
- |
1 |
16-2109168-G-T |
c.5999C>A |
p.S2000Y |
Missense |
15/46 |
- |
1 |
16-2109172-C-CCG |
c.5994_5995insCG |
p.G1999Rfs*118 |
Frameshift |
15/46 |
- |
1 |
16-2109172-C-T |
c.5995G>A |
p.G1999S |
Missense |
15/46 |
- |
5 |
16-2109173-GCG-CCA |
c.5992_5994delinsTGG |
p.R1998W |
Missense |
15/46 |
- |
1 |
16-2109174-C-T |
c.5993G>A |
p.R1998H |
Missense |
15/46 |
- |
1 |
16-2109183-C-T |
c.5984G>A |
p.R1995H |
Missense |
15/46 |
- |
3 |
16-2109184-G-A |
c.5983C>T |
p.R1995C |
Missense |
15/46 |
- |
3 |
16-2109188-CTGT-C |
c.5977_5979del |
p.T1993del |
InFrameDeletion |
15/46 |
- |
1 |
16-2109188-T-C |
c.5979A>G |
p.T1993= |
Synonymous |
15/46 |
- |
1 |
16-2109189-GT-AG |
c.5977_5978delinsCT |
p.T1993L |
Missense |
15/46 |
- |
1 |
16-2109189-TGTG-T |
c.5976_5978del |
p.F1992_T1993delinsL |
MultiAAMissense |
15/46 |
- |
1 |
16-2109191-G-C |
c.5976C>G |
p.F1992L |
Missense |
15/46 |
- |
2 |
16-2109191-G-T |
c.5976C>A |
p.F1992L |
Missense |
15/46 |
- |
2 |
16-2109193-AAGTTC-A |
c.5970_5974del |
p.R1990Sfs*58 |
Frameshift |
15/46 |
- |
1 |
16-2109193-A-G |
c.5974T>C |
p.F1992L |
Missense |
15/46 |
- |
2 |
16-2109197-CCT-ATG |
c.5968_5970delinsCAT |
p.R1990H |
Missense |
15/46 |
- |
1 |
16-2109196-TC-T |
c.5970del |
p.N1991Tfs*125 |
Frameshift |
15/46 |
- |
1 |
16-2109197-CCT-C |
c.5968_5969del |
p.R1990Efs*59 |
Frameshift |
15/46 |
- |
5 |
16-2109202-C-T |
c.5965G>A |
p.E1989K |
Missense |
15/46 |
- |
1 |
16-2109203-A-AC |
c.5963_5964insG |
p.E1989* |
Nonsense |
15/46 |
- |
1 |
16-2109203-AG-CA |
c.5963_5964delinsTG |
p.T1988M |
Missense |
15/46 |
- |
2 |
16-2109209-C-T |
c.5958G>A |
p.T1986= |
Synonymous |
15/46 |
- |
2 |
16-2109210-G-A |
c.5957C>T |
p.T1986M |
Missense |
15/46 |
- |
5 |
16-2109213-G-T |
c.5954C>A |
p.A1985D |
Missense |
15/46 |
- |
1 |
16-2109215-G-A |
c.5952C>T |
p.I1984= |
Synonymous |
15/46 |
- |
5 |
16-2109219-C-T |
c.5948G>A |
p.G1983D |
Missense |
15/46 |
- |
1 |
16-2109224-C-A |
c.5943G>T |
p.E1981D |
Missense |
15/46 |
- |
2 |
16-2109224-C-G |
c.5943G>C |
p.E1981D |
Missense |
15/46 |
- |
1 |
16-2109225-T-G |
c.5942A>C |
p.E1981A |
Missense |
15/46 |
- |
1 |
16-2109226-C-T |
c.5941G>A |
p.E1981K |
Missense |
15/46 |
- |
2 |
16-2109227-G-A |
c.5940C>T |
p.C1980= |
Synonymous |
15/46 |
- |
1 |
16-2109227-G-T |
c.5940C>A |
p.C1980* |
Nonsense |
15/46 |
- |
2 |
16-2109230-G-T |
c.5937C>A |
p.C1979* |
Nonsense |
15/46 |
- |
1 |
16-2109231-C-T |
c.5936G>A |
p.C1979Y |
Missense |
15/46 |
- |
1 |
16-2109233-G-T |
c.5934C>A |
p.N1978K |
Missense |
15/46 |
- |
1 |
16-2109237-G-C |
c.5930C>G |
p.P1977R |
Missense |
15/46 |
- |
1 |
16-2109241-C-T |
c.5926G>A |
p.V1976M |
Missense |
15/46 |
- |
1 |
16-2109244-G-A |
c.5923C>T |
p.Q1975* |
Nonsense |
15/46 |
- |
2 |
16-2109253-T-C |
c.5914A>G |
p.S1972G |
Missense |
15/46 |
- |
1 |
16-2109253-TCA-T |
c.5912_5913del |
p.V1971Efs*18 |
Frameshift |
15/46 |
- |
1 |
16-2109256-C-T |
c.5911G>A |
p.V1971M |
Missense |
15/46 |
- |
1 |
16-2109257-G-A |
c.5910C>T |
p.A1970= |
Synonymous |
15/46 |
- |
2 |
16-2109257-G-C |
c.5910C>G |
p.A1970= |
Synonymous |
15/46 |
- |
2 |
16-2109257-G-T |
c.5910C>A |
p.A1970= |
Synonymous |
15/46 |
- |
1 |
16-2109258-G-A |
c.5909C>T |
p.A1970V |
Missense |
15/46 |
- |
4 |
16-2109258-G-C |
c.5909C>G |
p.A1970G |
Missense |
15/46 |
- |
1 |
16-2109260-C-A |
c.5907G>T |
p.E1969D |
Missense |
15/46 |
- |
1 |
16-2109266-CAC-GAT |
c.5899_5901delinsATC |
p.V1967I |
Missense |
15/46 |
- |
1 |
16-2109271-C-T |
c.5896G>A |
p.V1966M |
Missense |
15/46 |
- |
1 |
16-2109276-C-A |
c.5891G>T |
p.R1964L |
Missense |
15/46 |
- |
1 |
16-2109277-G-A |
c.5890C>T |
p.R1964C |
Missense |
15/46 |
- |
2 |
16-2109284-C-A |
c.5883G>T |
p.A1961= |
Synonymous |
15/46 |
- |
1 |
16-2109284-C-G |
c.5883G>C |
p.A1961= |
Synonymous |
15/46 |
- |
1 |
16-2109284-C-T |
c.5883G>A |
p.A1961= |
Synonymous |
15/46 |
- |
1 |
16-2109285-G-A |
c.5882C>T |
p.A1961V |
Missense |
15/46 |
- |
1 |
16-2109289-G-A |
c.5878C>T |
p.Q1960* |
Nonsense |
15/46 |
- |
2 |
16-2109290-G-A |
c.5877C>T |
p.A1959= |
Synonymous |
15/46 |
- |
3 |
16-2109293-C-A |
c.5874G>T |
p.W1958C |
Missense |
15/46 |
- |
1 |
16-2109294-C-T |
c.5873G>A |
p.W1958* |
Nonsense |
15/46 |
- |
1 |
16-2109300-A-T |
c.5867T>A |
p.V1956E |
Missense |
15/46 |
- |
2 |
16-2109301-C-T |
c.5866G>A |
p.V1956M |
Missense |
15/46 |
- |
2 |
16-2109303-TG-T |
c.5863del |
p.H1955Tfs*2 |
Frameshift |
15/46 |
- |
1 |
16-2109311-GCC-CCA |
c.5854_5856delinsTGG |
p.G1952W |
Missense |
15/46 |
- |
1 |
16-2109311-TG-T |
c.5856del |
p.N1954Tfs*3 |
Frameshift |
15/46 |
- |
1 |
16-2109312-C-T |
c.5855G>A |
p.G1952D |
Missense |
15/46 |
- |
7 |
16-2109312-GCCCC-G |
c.5852_5855del |
p.R1951Pfs*5 |
Frameshift |
15/46 |
- |
1 |
16-2109315-C-T |
c.5852G>A |
p.R1951Q |
Missense |
15/46 |
- |
6 |
16-2109316-G-A |
c.5851C>T |
p.R1951W |
Missense |
15/46 |
- |
2 |
16-2109319-C-T |
c.5848G>A |
p.V1950M |
Missense |
15/46 |
- |
5 |
16-2109320-G-A |
c.5847C>T |
p.S1949= |
Synonymous |
15/46 |
- |
6 |
16-2109320-G-C |
c.5847C>G |
p.S1949R |
Missense |
15/46 |
- |
1 |
16-2109324-A-AC |
c.5842dup |
p.V1948Gfs*42 |
Frameshift |
15/46 |
- |
1 |
16-2109324-AC-A |
c.5842del |
p.V1948* |
Frameshift |
15/46 |
- |
1 |
16-2109328-C-T |
c.5839G>A |
p.V1947M |
Missense |
15/46 |
- |
1 |
16-2109329-G-T |
c.5838C>A |
p.H1946Q |
Missense |
15/46 |
- |
1 |
16-2109332-G-A |
c.5835C>T |
p.D1945= |
Synonymous |
15/46 |
- |
1 |
16-2109337-C-A |
c.5830G>T |
p.G1944* |
Nonsense |
15/46 |
- |
1 |
16-2109337-C-G |
c.5830G>C |
p.G1944R |
Missense |
15/46 |
- |
2 |
16-2109337-C-T |
c.5830G>A |
p.G1944R |
Missense |
15/46 |
- |
6 |
16-2109340-C-T |
c.5827G>A |
p.V1943I |
Missense |
15/46 |
- |
7 |
16-2109341-G-A |
c.5826C>T |
p.R1942= |
Synonymous |
15/46 |
- |
1 |
16-2109342-C-T |
c.5825G>A |
p.R1942H |
Missense |
15/46 |
- |
4 |
16-2109343-G-A |
c.5824C>T |
p.R1942C |
Missense |
15/46 |
- |
3 |
16-2109343-G-C |
c.5824C>G |
p.R1942G |
Missense |
15/46 |
- |
1 |
16-2109344-G-A |
c.5823C>T |
p.P1941= |
Synonymous |
15/46 |
- |
1 |
16-2109344-G-C |
c.5823C>G |
p.P1941= |
Synonymous |
15/46 |
- |
1 |
16-2109344-G-T |
c.5823C>A |
p.P1941= |
Synonymous |
15/46 |
- |
1 |
16-2109342-CG-C |
c.5824del |
p.R1942Afs*7 |
Frameshift |
15/46 |
- |
1 |
16-2109347-G-A |
c.5820C>T |
p.F1940= |
Synonymous |
15/46 |
- |
3 |
16-2109352-T-TG |
c.5814dup |
p.S1939Qfs*51 |
Frameshift |
15/46 |
- |
1 |
16-2109355-G-T |
c.5812C>A |
p.H1938N |
Missense |
15/46 |
- |
1 |
16-2109354-TG-T |
c.5812del |
p.H1938Tfs*11 |
Frameshift |
15/46 |
- |
1 |
16-2109359-G-A |
c.5808C>T |
p.F1936= |
Synonymous |
15/46 |
- |
2 |
16-2109360-A-C |
c.5807T>G |
p.F1936C |
Missense |
15/46 |
- |
1 |
16-2109363-C-A |
c.5804G>T |
p.R1935L |
Missense |
15/46 |
- |
3 |
16-2109363-C-T |
c.5804G>A |
p.R1935H |
Missense |
15/46 |
- |
1 |
16-2109364-G-A |
c.5803C>T |
p.R1935C |
Missense |
15/46 |
- |
1 |
16-2109363-CG-C |
c.5803del |
p.R1935Vfs*14 |
Frameshift |
15/46 |
- |
1 |
16-2109367-G-A |
c.5800C>T |
p.P1934S |
Missense |
15/46 |
- |
1 |
16-2109367-G-T |
c.5800C>A |
p.P1934T |
Missense |
15/46 |
- |
1 |
16-2109370-C-G |
c.5797G>C |
p.G1933R |
Missense |
15/46 |
- |
2 |
16-2109370-C-T |
c.5797G>A |
p.G1933R |
Missense |
15/46 |
- |
3 |
16-2109371-G-A |
c.5796C>T |
p.P1932= |
Synonymous |
15/46 |
- |
1 |
16-2109371-G-C |
c.5796C>G |
p.P1932= |
Synonymous |
15/46 |
- |
1 |
16-2109371-G-T |
c.5796C>A |
p.P1932= |
Synonymous |
15/46 |
- |
1 |
16-2109372-G-A |
c.5795C>T |
p.P1932L |
Missense |
15/46 |
- |
1 |
16-2109374-G-A |
c.5793C>T |
p.L1931= |
Synonymous |
15/46 |
- |
2 |
16-2109376-G-A |
c.5791C>T |
p.L1931F |
Missense |
15/46 |
- |
2 |
16-2109379-C-A |
c.5788G>T |
p.V1930L |
Missense |
15/46 |
- |
1 |
16-2109379-C-G |
c.5788G>C |
p.V1930L |
Missense |
15/46 |
- |
1 |
16-2109379-C-T |
c.5788G>A |
p.V1930M |
Missense |
15/46 |
- |
1 |
16-2109380-C-A |
c.5787G>T |
p.E1929D |
Missense |
15/46 |
- |
2 |
16-2109380-C-G |
c.5787G>C |
p.E1929D |
Missense |
15/46 |
- |
1 |
16-2109381-T-A |
c.5786A>T |
p.E1929V |
Missense |
15/46 |
- |
4 |
16-2109382-C-A |
c.5785G>T |
p.E1929* |
Nonsense |
15/46 |
- |
3 |
16-2109384-G-C |
c.5783C>G |
p.P1928R |
Missense |
15/46 |
- |
3 |
16-2109382-CG-C |
c.5784del |
p.E1929Rfs*20 |
Frameshift |
15/46 |
- |
1 |
16-2109390-G-A |
c.5777C>T |
p.A1926V |
Missense |
15/46 |
- |
4 |
16-2109393-C-T |
c.5774G>A |
p.G1925E |
Missense |
15/46 |
- |
4 |
16-2109394-C-A |
c.5773G>T |
p.G1925W |
Missense |
15/46 |
- |
1 |
16-2109395-G-A |
c.5772C>T |
p.G1924= |
Synonymous |
15/46 |
- |
3 |
16-2109395-G-C |
c.5772C>G |
p.G1924= |
Synonymous |
15/46 |
- |
2 |
16-2109395-G-T |
c.5772C>A |
p.G1924= |
Synonymous |
15/46 |
- |
2 |
16-2109397-C-G |
c.5770G>C |
p.G1924R |
Missense |
15/46 |
- |
1 |
16-2109397-C-T |
c.5770G>A |
p.G1924S |
Missense |
15/46 |
- |
3 |
16-2109398-G-A |
c.5769C>T |
p.V1923= |
Synonymous |
15/46 |
- |
1 |
16-2109398-G-C |
c.5769C>G |
p.V1923= |
Synonymous |
15/46 |
- |
1 |
16-2109398-G-T |
c.5769C>A |
p.V1923= |
Synonymous |
15/46 |
- |
1 |
16-2109403-G-A |
c.5764C>T |
p.Q1922* |
Nonsense |
15/46 |
- |
3 |
16-2109404-C-T |
c.5763G>A |
p.L1921= |
Synonymous |
15/46 |
- |
7 |
16-2109410-G-A |
c.5757C>T |
p.F1919= |
Synonymous |
15/46 |
- |
1 |
16-2109421-C-T |
c.5746G>A |
p.A1916T |
Missense |
15/46 |
- |
1 |
16-2109426-C-G |
c.5741G>C |
p.G1914A |
Missense |
15/46 |
- |
1 |
16-2109429-G-A |
c.5738C>T |
p.A1913V |
Missense |
15/46 |
- |
2 |
16-2109433-C-T |
c.5734G>A |
p.A1912T |
Missense |
15/46 |
- |
1 |
16-2109436-G-T |
c.5731C>A |
p.L1911M |
Missense |
15/46 |
- |
1 |
16-2109438-A-G |
c.5729T>C |
p.L1910P |
Missense |
15/46 |
- |
1 |
16-2109439-G-A |
c.5728C>T |
p.L1910= |
Synonymous |
15/46 |
- |
3 |
16-2109440-G-A |
c.5727C>T |
p.I1909= |
Synonymous |
15/46 |
- |
2 |
16-2109440-G-C |
c.5727C>G |
p.I1909M |
Missense |
15/46 |
- |
1 |
16-2109440-G-T |
c.5727C>A |
p.I1909= |
Synonymous |
15/46 |
- |
1 |
16-2109445-G-A |
c.5722C>T |
p.Q1908* |
Nonsense |
15/46 |
- |
10 |
16-2109451-G-T |
c.5716C>A |
p.H1906N |
Missense |
15/46 |
- |
1 |
16-2109455-C-A |
c.5712G>T |
p.L1904= |
Synonymous |
15/46 |
- |
3 |
16-2109455-C-G |
c.5712G>C |
p.L1904= |
Synonymous |
15/46 |
- |
2 |
16-2109455-C-T |
c.5712G>A |
p.L1904= |
Synonymous |
15/46 |
- |
3 |
16-2109457-G-A |
c.5710C>T |
p.L1904= |
Synonymous |
15/46 |
- |
2 |
16-2109456-A-G |
c.5711T>C |
p.L1904P |
Missense |
15/46 |
- |
1 |
16-2109460-G-A |
c.5707C>T |
p.Q1903* |
Nonsense |
15/46 |
- |
1 |
16-2109463-C-T |
c.5704G>A |
p.G1902R |
Missense |
15/46 |
- |
1 |
16-2109465-G-A |
c.5702C>T |
p.P1901L |
Missense |
15/46 |
- |
1 |
16-2109468-G-A |
c.5699C>T |
p.A1900V |
Missense |
15/46 |
- |
1 |
16-2109485-G-A |
c.5682C>T |
p.A1894= |
Synonymous |
15/46 |
- |
7 |
16-2109485-G-C |
c.5682C>G |
p.A1894= |
Synonymous |
15/46 |
- |
3 |
16-2109485-G-T |
c.5682C>A |
p.A1894= |
Synonymous |
15/46 |
- |
2 |
16-2109488-C-T |
c.5679G>A |
p.W1893* |
Nonsense |
15/46 |
- |
1 |
16-2109489-C-T |
c.5678G>A |
p.W1893* |
Nonsense |
15/46 |
- |
1 |
16-2109494-CAC-GAT |
c.5671_5673delinsATC |
p.V1891I |
Missense |
15/46 |
- |
1 |
16-2109496-C-A |
c.5671G>T |
p.V1891L |
Missense |
15/46 |
- |
2 |
16-2109496-C-G |
c.5671G>C |
p.V1891L |
Missense |
15/46 |
- |
1 |
16-2109500-G-A |
c.5667C>T |
p.G1889= |
Synonymous |
15/46 |
- |
2 |
16-2109501-C-A |
c.5666G>T |
p.G1889V |
Missense |
15/46 |
- |
1 |
16-2109505-C-T |
c.5662G>A |
p.V1888M |
Missense |
15/46 |
- |
1 |
16-2109506-G-A |
c.5661C>T |
p.I1887= |
Synonymous |
15/46 |
- |
2 |
16-2109506-G-T |
c.5661C>A |
p.I1887= |
Synonymous |
15/46 |
- |
1 |
16-2109517-C-A |
c.5650G>T |
p.E1884* |
Nonsense |
15/46 |
- |
1 |
16-2109517-C-T |
c.5650G>A |
p.E1884K |
Missense |
15/46 |
- |
1 |
16-2109519-G-A |
c.5648C>T |
p.A1883V |
Missense |
15/46 |
- |
7 |
16-2109521-C-A |
c.5646G>T |
p.T1882= |
Synonymous |
15/46 |
- |
1 |
16-2109521-C-G |
c.5646G>C |
p.T1882= |
Synonymous |
15/46 |
- |
1 |
16-2109521-C-T |
c.5646G>A |
p.T1882= |
Synonymous |
15/46 |
- |
1 |
16-2109522-G-A |
c.5645C>T |
p.T1882M |
Missense |
15/46 |
- |
2 |
16-2109522-G-GT |
c.5644dup |
p.T1882Nfs*108 |
Frameshift |
15/46 |
- |
1 |
16-2109526-G-T |
c.5641C>A |
p.L1881I |
Missense |
15/46 |
- |
1 |
16-2109526-GGTTGTACGTGGCT-G |
c.5628_5640del |
p.A1877Sfs*68 |
Frameshift |
15/46 |
- |
1 |
16-2109528-T-A |
c.5639A>T |
p.N1880I |
Missense |
15/46 |
- |
1 |
16-2109530-G-C |
c.5637C>G |
p.Y1879* |
Nonsense |
15/46 |
- |
2 |
16-2109533-C-A |
c.5634G>T |
p.T1878= |
Synonymous |
15/46 |
- |
1 |
16-2109533-C-G |
c.5634G>C |
p.T1878= |
Synonymous |
15/46 |
- |
1 |
16-2109533-C-T |
c.5634G>A |
p.T1878= |
Synonymous |
15/46 |
- |
1 |
16-2109534-G-A |
c.5633C>T |
p.T1878M |
Missense |
15/46 |
- |
1 |
16-2109537-G-T |
c.5630C>A |
p.A1877D |
Missense |
15/46 |
- |
1 |
16-2109538-C-T |
c.5629G>A |
p.A1877T |
Missense |
15/46 |
- |
1 |
16-2109540-G-C |
c.5627C>G |
p.S1876* |
Nonsense |
15/46 |
- |
1 |
16-2109542-G-A |
c.5625C>T |
p.V1875= |
Synonymous |
15/46 |
- |
4 |
16-2109542-G-C |
c.5625C>G |
p.V1875= |
Synonymous |
15/46 |
- |
1 |
16-2109542-G-T |
c.5625C>A |
p.V1875= |
Synonymous |
15/46 |
- |
1 |
16-2109545-C-A |
c.5622G>T |
p.W1874C |
Missense |
15/46 |
- |
1 |
16-2109546-C-T |
c.5621G>A |
p.W1874* |
Nonsense |
15/46 |
- |
2 |
16-2109556-C-T |
c.5611G>A |
p.A1871T |
Missense |
15/46 |
- |
16 |
16-2109557-G-A |
c.5610C>T |
p.N1870= |
Synonymous |
15/46 |
- |
1 |
16-2109557-G-C |
c.5610C>G |
p.N1870K |
Missense |
15/46 |
- |
1 |
16-2109559-T-TG |
c.5607dup |
p.N1870Qfs*120 |
Frameshift |
15/46 |
- |
1 |
16-2109561-G-A |
c.5606C>T |
p.S1869F |
Missense |
15/46 |
- |
1 |
16-2109565-C-A |
c.5602G>T |
p.A1868S |
Missense |
15/46 |
- |
1 |
16-2109567-T-C |
c.5600A>G |
p.N1867S |
Missense |
15/46 |
- |
2 |
16-2109569-G-A |
c.5598C>T |
p.L1866= |
Synonymous |
15/46 |
- |
3 |
16-2109569-G-C |
c.5598C>G |
p.L1866= |
Synonymous |
15/46 |
- |
2 |
16-2109569-G-T |
c.5598C>A |
p.L1866= |
Synonymous |
15/46 |
- |
2 |
16-2109571-GC-G |
c.5595del |
p.L1866Sfs*83 |
Frameshift |
15/46 |
- |
1 |
16-2109572-C-A |
c.5595G>T |
p.R1865= |
Synonymous |
15/46 |
- |
1 |
16-2109572-C-G |
c.5595G>C |
p.R1865= |
Synonymous |
15/46 |
- |
1 |
16-2109572-C-T |
c.5595G>A |
p.R1865= |
Synonymous |
15/46 |
- |
1 |
16-2109574-G-A |
c.5593C>T |
p.R1865W |
Missense |
15/46 |
- |
2 |
16-2109574-G-T |
c.5593C>A |
p.R1865= |
Synonymous |
15/46 |
- |
1 |
16-2109578-G-A |
c.5589C>T |
p.S1863= |
Synonymous |
15/46 |
- |
1 |
16-2109592-C-A |
c.5575G>T |
p.A1859S |
Missense |
15/46 |
- |
1 |
16-2109592-C-T |
c.5575G>A |
p.A1859T |
Missense |
15/46 |
- |
3 |
16-2109595-C-G |
c.5572G>C |
p.D1858H |
Missense |
15/46 |
- |
1 |
16-2109594-TC-T |
c.5572del |
p.D1858Mfs*91 |
Frameshift |
15/46 |
- |
1 |
16-2109598-G-A |
c.5569C>T |
p.P1857S |
Missense |
15/46 |
- |
2 |
16-2109604-C-G |
c.5563G>C |
p.V1855L |
Missense |
15/46 |
- |
1 |
16-2109605-C-T |
c.5562G>A |
p.M1854I |
Missense |
15/46 |
- |
2 |
16-2109609-G-A |
c.5558C>T |
p.T1853I |
Missense |
15/46 |
- |
4 |
16-2109610-GT-G |
c.5557del |
p.T1853Pfs*96 |
Frameshift |
15/46 |
- |
1 |
16-2109611-G-A |
c.5556C>T |
p.V1852= |
Synonymous |
15/46 |
- |
2 |
16-2109611-G-C |
c.5556C>G |
p.V1852= |
Synonymous |
15/46 |
- |
1 |
16-2109611-G-T |
c.5556C>A |
p.V1852= |
Synonymous |
15/46 |
- |
1 |
16-2109612-A-C |
c.5555T>G |
p.V1852G |
Missense |
15/46 |
- |
1 |
16-2109613-C-T |
c.5554G>A |
p.V1852I |
Missense |
15/46 |
- |
1 |
16-2109619-G-A |
c.5548C>T |
p.P1850S |
Missense |
15/46 |
- |
2 |
16-2109620-G-A |
c.5547C>T |
p.G1849= |
Synonymous |
15/46 |
- |
1 |
16-2109622-C-T |
c.5545G>A |
p.G1849S |
Missense |
15/46 |
- |
1 |
16-2109624-C-T |
c.5543G>A |
p.R1848H |
Missense |
15/46 |
- |
3 |
16-2109630-C-A |
c.5537G>T |
p.S1846I |
Missense |
15/46 |
- |
1 |
16-2109630-CT-TA |
c.5536_5537delinsTA |
p.S1846Y |
Missense |
15/46 |
- |
1 |
16-2109632-G-C |
c.5535C>G |
p.S1845R |
Missense |
15/46 |
- |
1 |
16-2109636-C-T |
c.5531G>A |
p.G1844D |
Missense |
15/46 |
- |
1 |
16-2109637-C-A |
c.5530G>T |
p.G1844C |
Missense |
15/46 |
- |
1 |
16-2109639-C-G |
c.5528G>C |
p.G1843A |
Missense |
15/46 |
- |
1 |
16-2109643-G-A |
c.5524C>T |
p.P1842S |
Missense |
15/46 |
- |
1 |
16-2109650-C-A |
c.5517G>T |
p.W1839C |
Missense |
15/46 |
- |
3 |
16-2109650-C-T |
c.5517G>A |
p.W1839* |
Nonsense |
15/46 |
- |
1 |
16-2109652-A-C |
c.5515T>G |
p.W1839G |
Missense |
15/46 |
- |
1 |
16-2109652-A-T |
c.5515T>A |
p.W1839R |
Missense |
15/46 |
- |
1 |
16-2109656-C-T |
c.5511G>A |
p.W1837* |
Nonsense |
15/46 |
- |
1 |
16-2109657-C-T |
c.5510G>A |
p.W1837* |
Nonsense |
15/46 |
- |
1 |
16-2109666-T-C |
c.5501A>G |
p.N1834S |
Missense |
15/46 |
- |
5 |
16-2109672-C-A |
c.5495G>T |
p.G1832V |
Missense |
15/46 |
- |
2 |
16-2109673-C-T |
c.5494G>A |
p.G1832S |
Missense |
15/46 |
- |
1 |
16-2109675-G-A |
c.5492C>T |
p.T1831M |
Missense |
15/46 |
- |
2 |
16-2109680-C-T |
c.5487G>A |
p.L1829= |
Synonymous |
15/46 |
- |
1 |
16-2109683-C-A |
c.5484G>T |
p.Q1828H |
Missense |
15/46 |
- |
2 |
16-2109683-C-G |
c.5484G>C |
p.Q1828H |
Missense |
15/46 |
- |
2 |
16-2109684-T-C |
c.5483A>G |
p.Q1828R |
Missense |
15/46 |
- |
3 |
16-2109685-G-A |
c.5482C>T |
p.Q1828* |
Nonsense |
15/46 |
- |
1 |
16-2109688-C-A |
c.5479G>T |
p.G1827W |
Missense |
15/46 |
- |
1 |
16-2109689-C-T |
c.5478G>A |
p.W1826* |
Nonsense |
15/46 |
- |
2 |
16-2109690-C-T |
c.5477G>A |
p.W1826* |
Nonsense |
15/46 |
- |
5 |
16-2109693-A-C |
c.5474T>G |
p.F1825C |
Missense |
15/46 |
- |
1 |
16-2109703-A-C |
c.5464T>G |
p.S1822A |
Missense |
15/46 |
- |
1 |
16-2109708-C-T |
c.5459G>A |
p.G1820E |
Missense |
15/46 |
- |
1 |
16-2109710-G-A |
c.5457C>T |
p.A1819= |
Synonymous |
15/46 |
- |
1 |
16-2109712-C-A |
c.5455G>T |
p.A1819S |
Missense |
15/46 |
- |
1 |
16-2109713-C-A |
c.5454G>T |
p.A1818= |
Synonymous |
15/46 |
- |
1 |
16-2109713-C-T |
c.5454G>A |
p.A1818= |
Synonymous |
15/46 |
- |
1 |
16-2109714-G-A |
c.5453C>T |
p.A1818V |
Missense |
15/46 |
- |
1 |
16-2109715-C-T |
c.5452G>A |
p.A1818T |
Missense |
15/46 |
- |
1 |
16-2109719-G-A |
c.5448C>T |
p.F1816= |
Synonymous |
15/46 |
- |
3 |
16-2109720-A-T |
c.5447T>A |
p.F1816Y |
Missense |
15/46 |
- |
1 |
16-2109731-G-A |
c.5436C>T |
p.P1812= |
Synonymous |
15/46 |
- |
1 |
16-2109731-G-C |
c.5436C>G |
p.P1812= |
Synonymous |
15/46 |
- |
1 |
16-2109731-G-T |
c.5436C>A |
p.P1812= |
Synonymous |
15/46 |
- |
1 |
16-2109732-G-A |
c.5435C>T |
p.P1812L |
Missense |
15/46 |
- |
1 |
16-2109730-CG-C |
c.5436del |
p.G1813Efs*23 |
Frameshift |
15/46 |
- |
1 |
16-2109736-C-T |
c.5431G>A |
p.E1811K |
Missense |
15/46 |
- |
4 |
16-2109737-G-A |
c.5430C>T |
p.S1810= |
Synonymous |
15/46 |
- |
1 |
16-2109744-CT-TG |
c.5422_5423delinsCA |
p.R1808Q |
Missense |
15/46 |
- |
1 |
16-2109761-C-A |
c.5406G>T |
p.V1802= |
Synonymous |
15/46 |
- |
1 |
16-2109761-C-G |
c.5406G>C |
p.V1802= |
Synonymous |
15/46 |
- |
1 |
16-2109761-C-T |
c.5406G>A |
p.V1802= |
Synonymous |
15/46 |
- |
1 |
16-2109763-C-A |
c.5404G>T |
p.V1802L |
Missense |
15/46 |
- |
1 |
16-2109766-G-A |
c.5401C>T |
p.P1801S |
Missense |
15/46 |
- |
5 |
16-2109767-C-A |
c.5400G>T |
p.V1800= |
Synonymous |
15/46 |
- |
3 |
16-2109767-C-G |
c.5400G>C |
p.V1800= |
Synonymous |
15/46 |
- |
3 |
16-2109767-C-T |
c.5400G>A |
p.V1800= |
Synonymous |
15/46 |
- |
3 |
16-2109769-C-T |
c.5398G>A |
p.V1800M |
Missense |
15/46 |
- |
3 |
16-2109770-C-G |
c.5397G>C |
p.Q1799H |
Missense |
15/46 |
- |
1 |
16-2109772-G-A |
c.5395C>T |
p.Q1799* |
Nonsense |
15/46 |
- |
2 |
16-2109775-C-G |
c.5392G>C |
p.V1798L |
Missense |
15/46 |
- |
1 |
16-2109778-C-T |
c.5389G>A |
p.D1797N |
Missense |
15/46 |
- |
1 |
16-2109779-CAC-AAA |
c.5386_5388delinsTTT |
p.V1796F |
Missense |
15/46 |
- |
1 |
16-2109788-G-A |
c.5379C>T |
p.T1793= |
Synonymous |
15/46 |
- |
3 |
16-2109788-G-C |
c.5379C>G |
p.T1793= |
Synonymous |
15/46 |
- |
1 |
16-2109788-G-T |
c.5379C>A |
p.T1793= |
Synonymous |
15/46 |
- |
1 |
16-2109793-C-T |
c.5374G>A |
p.A1792T |
Missense |
15/46 |
- |
1 |
16-2109794-G-A |
c.5373C>T |
p.N1791= |
Synonymous |
15/46 |
- |
1 |
16-2109796-T-A |
c.5371A>T |
p.N1791Y |
Missense |
15/46 |
- |
2 |
16-2109798-G-GACT |
c.5368_5369insAGT |
p.A1790delinsES |
MultiAAMissense |
15/46 |
- |
1 |
16-2109799-C-CT |
c.5367dup |
p.A1790Sfs*200 |
Frameshift |
15/46 |
- |
1 |
16-2109800-TG-AT |
c.5366_5367delinsAT |
p.S1789Y |
Missense |
15/46 |
- |
1 |
16-2109804-C-T |
c.5363G>A |
p.G1788D |
Missense |
15/46 |
- |
1 |
16-2109807-A-G |
c.5360T>C |
p.L1787P |
Missense |
15/46 |
- |
1 |
16-2109809-C-A |
c.5358G>T |
p.P1786= |
Synonymous |
15/46 |
- |
1 |
16-2109809-C-G |
c.5358G>C |
p.P1786= |
Synonymous |
15/46 |
- |
1 |
16-2109809-C-T |
c.5358G>A |
p.P1786= |
Synonymous |
15/46 |
- |
2 |
16-2109810-G-A |
c.5357C>T |
p.P1786L |
Missense |
15/46 |
- |
6 |
16-2109810-G-T |
c.5357C>A |
p.P1786Q |
Missense |
15/46 |
- |
1 |
16-2109811-G-A |
c.5356C>T |
p.P1786S |
Missense |
15/46 |
- |
2 |
16-2109814-T-TCA |
c.5352_5353insTG |
p.N1785* |
Nonsense |
15/46 |
- |
1 |
16-2109816-C-G |
c.5351G>C |
p.G1784A |
Missense |
15/46 |
- |
1 |
16-2109834-AA-GG |
c.5332_5333delinsCC |
p.L1778P |
Missense |
15/46 |
- |
1 |
16-2109841-G-T |
c.5326C>A |
p.L1776M |
Missense |
15/46 |
- |
1 |
16-2109843-C-T |
c.5324G>A |
p.G1775D |
Missense |
15/46 |
- |
1 |
16-2109846-G-A |
c.5321C>T |
p.P1774L |
Missense |
15/46 |
- |
1 |
16-2109849-G-A |
c.5318C>T |
p.T1773I |
Missense |
15/46 |
- |
5 |
16-2109851-G-A |
c.5316C>T |
p.P1772= |
Synonymous |
15/46 |
- |
1 |
16-2109853-G-A |
c.5314C>T |
p.P1772S |
Missense |
15/46 |
- |
1 |
16-2109853-G-C |
c.5314C>G |
p.P1772A |
Missense |
15/46 |
- |
1 |
16-2109854-G-A |
c.5313C>T |
p.F1771= |
Synonymous |
15/46 |
- |
1 |
16-2109854-G-C |
c.5313C>G |
p.F1771L |
Missense |
15/46 |
- |
2 |
16-2109854-G-T |
c.5313C>A |
p.F1771L |
Missense |
15/46 |
- |
2 |
16-2109856-A-G |
c.5311T>C |
p.F1771L |
Missense |
15/46 |
- |
2 |
16-2109860-A-G |
c.5307T>C |
p.H1769= |
Synonymous |
15/46 |
- |
1 |
16-2109862-G-A |
c.5305C>T |
p.H1769Y |
Missense |
15/46 |
- |
5 |
16-2109862-G-T |
c.5305C>A |
p.H1769N |
Missense |
15/46 |
- |
1 |
16-2109864-G-T |
c.5303C>A |
p.T1768N |
Missense |
15/46 |
- |
2 |
16-2109868-T-C |
c.5299A>G |
p.T1767A |
Missense |
15/46 |
- |
1 |
16-2109868-T-G |
c.5299A>C |
p.T1767P |
Missense |
15/46 |
- |
1 |
16-2109874-G-A |
c.5293C>T |
p.P1765S |
Missense |
15/46 |
- |
1 |
16-2109880-A-G |
c.5287T>C |
p.S1763P |
Missense |
15/46 |
- |
3 |
16-2109881-G-A |
c.5286C>T |
p.T1762= |
Synonymous |
15/46 |
- |
2 |
16-2109881-G-C |
c.5286C>G |
p.T1762= |
Synonymous |
15/46 |
- |
2 |
16-2109881-G-T |
c.5286C>A |
p.T1762= |
Synonymous |
15/46 |
- |
3 |
16-2109886-C-T |
c.5281G>A |
p.E1761K |
Missense |
15/46 |
- |
1 |
16-2109886-TCCCAGCTCAGCCCCTCCTCCA-T |
c.5261_5281del |
p.L1754_E1761delins* |
MultiAAMissense |
15/46 |
- |
1 |
16-2109887-C-T |
c.5280G>A |
p.W1760* |
Nonsense |
15/46 |
- |
1 |
16-2109893-C-T |
c.5274G>A |
p.L1758= |
Synonymous |
15/46 |
- |
1 |
16-2109896-CCC-ACA |
c.5269_5271delinsTGT |
p.G1757C |
Missense |
15/46 |
- |
1 |
16-2109897-C-A |
c.5270G>T |
p.G1757V |
Missense |
15/46 |
- |
1 |
16-2109905-C-T |
c.5262G>A |
p.L1754= |
Synonymous |
15/46 |
- |
1 |
16-2109911-C-T |
c.5256G>A |
p.W1752* |
Nonsense |
15/46 |
- |
1 |
16-2109912-C-T |
c.5255G>A |
p.W1752* |
Nonsense |
15/46 |
- |
1 |
16-2109911-CCAAGTGTATACGACACCA-C |
c.5238_5255del |
p.S1746_W1752delinsR |
MultiAAMissense |
15/46 |
- |
1 |
16-2109914-A-C |
c.5253T>G |
p.T1751= |
Synonymous |
15/46 |
- |
1 |
16-2109914-A-G |
c.5253T>C |
p.T1751= |
Synonymous |
15/46 |
- |
1 |
16-2109914-A-T |
c.5253T>A |
p.T1751= |
Synonymous |
15/46 |
- |
1 |
16-2109929-A-G |
c.5238T>C |
p.S1746= |
Synonymous |
15/46 |
- |
1 |
16-2109932-G-A |
c.5235C>T |
p.G1745= |
Synonymous |
15/46 |
- |
1 |
16-2109937-C-G |
c.5230G>C |
p.G1744R |
Missense |
15/46 |
- |
1 |
16-2109937-C-T |
c.5230G>A |
p.G1744S |
Missense |
15/46 |
- |
1 |
16-2109946-C-A |
c.5221G>T |
p.E1741* |
Nonsense |
15/46 |
- |
1 |
16-2109948-G-T |
c.5219C>A |
p.A1740D |
Missense |
15/46 |
- |
1 |
16-2109949-C-T |
c.5218G>A |
p.A1740T |
Missense |
15/46 |
- |
1 |
16-2109951-CT-TA |
c.5215_5216delinsTA |
p.S1739Y |
Missense |
15/46 |
- |
1 |
16-2109955-G-A |
c.5212C>T |
p.L1738F |
Missense |
15/46 |
- |
5 |
16-2109957-G-C |
c.5210C>G |
p.T1737S |
Missense |
15/46 |
- |
1 |
16-2109958-T-A |
c.5209A>T |
p.T1737S |
Missense |
15/46 |
- |
1 |
16-2109959-TGA-T |
c.5207_5208del |
p.V1736Dfs*34 |
Frameshift |
15/46 |
- |
1 |
16-2109962-G-C |
c.5205C>G |
p.S1735R |
Missense |
15/46 |
- |
3 |
16-2109962-G-T |
c.5205C>A |
p.S1735R |
Missense |
15/46 |
- |
2 |
16-2109964-T-G |
c.5203A>C |
p.S1735R |
Missense |
15/46 |
- |
2 |
16-2109965-TG-CA |
c.5201_5202inv |
p.T1734M |
Missense |
15/46 |
- |
1 |
16-2109966-G-T |
c.5201C>A |
p.T1734K |
Missense |
15/46 |
- |
3 |
16-2109971-G-C |
c.5196C>G |
p.V1732= |
Synonymous |
15/46 |
- |
1 |
16-2109973-C-T |
c.5194G>A |
p.V1732I |
Missense |
15/46 |
- |
1 |
16-2109987-G-A |
c.5180C>T |
p.P1727L |
Missense |
15/46 |
- |
1 |
16-2109989-G-A |
c.5178C>T |
p.S1726= |
Synonymous |
15/46 |
- |
1 |
16-2109986-CG-C |
c.5180del |
p.P1727Rfs*32 |
Frameshift |
15/46 |
- |
1 |
16-2109991-A-T |
c.5176T>A |
p.S1726T |
Missense |
15/46 |
- |
1 |
16-2109992-G-A |
c.5175C>T |
p.A1725= |
Synonymous |
15/46 |
- |
1 |
16-2109992-G-C |
c.5175C>G |
p.A1725= |
Synonymous |
15/46 |
- |
1 |
16-2109992-G-T |
c.5175C>A |
p.A1725= |
Synonymous |
15/46 |
- |
2 |
16-2109994-C-T |
c.5173G>A |
p.A1725T |
Missense |
15/46 |
- |
1 |
16-2109995-G-A |
c.5172C>T |
p.A1724= |
Synonymous |
15/46 |
- |
13 |
16-2109995-G-C |
c.5172C>G |
p.A1724= |
Synonymous |
15/46 |
- |
2 |
16-2109995-G-T |
c.5172C>A |
p.A1724= |
Synonymous |
15/46 |
- |
2 |
16-2109999-A-C |
c.5168T>G |
p.V1723G |
Missense |
15/46 |
- |
1 |
16-2109999-A-T |
c.5168T>A |
p.V1723E |
Missense |
15/46 |
- |
1 |
16-2110000-C-T |
c.5167G>A |
p.V1723M |
Missense |
15/46 |
- |
1 |
16-2110005-A-G |
c.5162T>C |
p.L1721P |
Missense |
15/46 |
- |
1 |
16-2110006-G-A |
c.5161C>T |
p.L1721= |
Synonymous |
15/46 |
- |
1 |
16-2110009-AC-A |
c.5157del |
p.W1720Gfs*2 |
Frameshift |
15/46 |
- |
1 |
16-2110017-G-A |
c.5150C>T |
p.P1717L |
Missense |
15/46 |
- |
1 |
16-2110019-C-A |
c.5148G>T |
p.E1716D |
Missense |
15/46 |
- |
1 |
16-2110019-C-T |
c.5148G>A |
p.E1716= |
Synonymous |
15/46 |
- |
1 |
16-2110022-CAC-GAT |
c.5143_5145delinsATC |
p.V1715I |
Missense |
15/46 |
- |
1 |
16-2110024-C-T |
c.5143G>A |
p.V1715M |
Missense |
15/46 |
- |
1 |
16-2110025-G-A |
c.5142C>T |
p.F1714= |
Synonymous |
15/46 |
- |
1 |
16-2110028-G-C |
c.5139C>G |
p.D1713E |
Missense |
15/46 |
- |
1 |
16-2110033-T-C |
c.5134A>G |
p.M1712V |
Missense |
15/46 |
- |
2 |
16-2110035-G-A |
c.5132C>T |
p.T1711I |
Missense |
15/46 |
- |
1 |
16-2110038-GCA-G |
c.5128_5129del |
p.C1710Hfs*60 |
Frameshift |
15/46 |
- |
1 |
16-2110042-C-A |
c.5125G>T |
p.D1709Y |
Missense |
15/46 |
- |
1 |
16-2110042-C-T |
c.5125G>A |
p.D1709N |
Missense |
15/46 |
- |
1 |
16-2110043-G-A |
c.5124C>T |
p.A1708= |
Synonymous |
15/46 |
- |
2 |
16-2110043-G-C |
c.5124C>G |
p.A1708= |
Synonymous |
15/46 |
- |
1 |
16-2110043-G-T |
c.5124C>A |
p.A1708= |
Synonymous |
15/46 |
- |
1 |
16-2110045-C-A |
c.5122G>T |
p.A1708S |
Missense |
15/46 |
- |
1 |
16-2110046-C-T |
c.5121G>A |
p.W1707* |
Nonsense |
15/46 |
- |
1 |
16-2110047-C-T |
c.5120G>A |
p.W1707* |
Nonsense |
15/46 |
- |
1 |
16-2110048-A-T |
c.5119T>A |
p.W1707R |
Missense |
15/46 |
- |
1 |
16-2110051-C-T |
c.5116G>A |
p.A1706T |
Missense |
15/46 |
- |
1 |
16-2110052-G-C |
c.5115C>G |
p.S1705R |
Missense |
15/46 |
- |
1 |
16-2110055-TG-T |
c.5112del |
p.S1705Afs*17 |
Frameshift |
15/46 |
- |
1 |
16-2110059-A-AGTGT |
c.5107_5108insACAC |
p.L1703Hfs*69 |
Frameshift |
15/46 |
- |
1 |
16-2110064-G-C |
c.5103C>G |
p.N1701K |
Missense |
15/46 |
- |
1 |
16-2110064-G-T |
c.5103C>A |
p.N1701K |
Missense |
15/46 |
- |
1 |
16-2110064-GT-G |
c.5102del |
p.N1701Tfs*21 |
Frameshift |
15/46 |
- |
1 |
16-2110071-G-T |
c.5096C>A |
p.A1699D |
Missense |
15/46 |
- |
1 |
16-2110074-CG-GT |
c.5092_5093delinsAC |
p.R1698T |
Missense |
15/46 |
- |
1 |
16-2110075-G-A |
c.5092C>T |
p.R1698W |
Missense |
15/46 |
- |
1 |
16-2110077-A-C |
c.5090T>G |
p.L1697R |
Missense |
15/46 |
- |
1 |
16-2110081-G-A |
c.5086C>T |
p.Q1696* |
Nonsense |
15/46 |
- |
1 |
16-2110083-A-G |
c.5084T>C |
p.V1695A |
Missense |
15/46 |
- |
1 |
16-2110087-G-A |
c.5080C>T |
p.H1694Y |
Missense |
15/46 |
- |
1 |
16-2110088-G-C |
c.5079C>G |
p.Y1693* |
Nonsense |
15/46 |
- |
1 |
16-2110088-G-T |
c.5079C>A |
p.Y1693* |
Nonsense |
15/46 |
- |
3 |
16-2110090-A-C |
c.5077T>G |
p.Y1693D |
Missense |
15/46 |
- |
1 |
16-2110092-G-C |
c.5075C>G |
p.T1692S |
Missense |
15/46 |
- |
1 |
16-2110093-T-A |
c.5074A>T |
p.T1692S |
Missense |
15/46 |
- |
1 |
16-2110094-GC-CT |
c.5072_5073delinsAG |
p.G1691E |
Missense |
15/46 |
- |
1 |
16-2110097-G-A |
c.5070C>T |
p.A1690= |
Synonymous |
15/46 |
- |
2 |
16-2110097-G-C |
c.5070C>G |
p.A1690= |
Synonymous |
15/46 |
- |
2 |
16-2110097-G-T |
c.5070C>A |
p.A1690= |
Synonymous |
15/46 |
- |
2 |
16-2110098-G-A |
c.5069C>T |
p.A1690V |
Missense |
15/46 |
- |
1 |
16-2110107-A-G |
c.5060T>C |
p.V1687A |
Missense |
15/46 |
- |
1 |
16-2110108-C-T |
c.5059G>A |
p.V1687M |
Missense |
15/46 |
- |
1 |
16-2110112-G-A |
c.5055C>T |
p.L1685= |
Synonymous |
15/46 |
- |
1 |
16-2110114-G-A |
c.5053C>T |
p.L1685F |
Missense |
15/46 |
- |
1 |
16-2110115-C-A |
c.5052G>T |
p.S1684= |
Synonymous |
15/46 |
- |
1 |
16-2110115-C-G |
c.5052G>C |
p.S1684= |
Synonymous |
15/46 |
- |
1 |
16-2110115-C-T |
c.5052G>A |
p.S1684= |
Synonymous |
15/46 |
- |
1 |
16-2110116-G-A |
c.5051C>T |
p.S1684L |
Missense |
15/46 |
- |
4 |
16-2110121-G-A |
c.5046C>T |
p.G1682= |
Synonymous |
15/46 |
- |
1 |
16-2110121-G-C |
c.5046C>G |
p.G1682= |
Synonymous |
15/46 |
- |
1 |
16-2110121-G-T |
c.5046C>A |
p.G1682= |
Synonymous |
15/46 |
- |
1 |
16-2110123-C-A |
c.5044G>T |
p.G1682C |
Missense |
15/46 |
- |
1 |
16-2110130-G-A |
c.5037C>T |
p.S1679= |
Synonymous |
15/46 |
- |
1 |
16-2110130-G-C |
c.5037C>G |
p.S1679R |
Missense |
15/46 |
- |
2 |
16-2110130-G-T |
c.5037C>A |
p.S1679R |
Missense |
15/46 |
- |
2 |
16-2110132-T-G |
c.5035A>C |
p.S1679R |
Missense |
15/46 |
- |
2 |
16-2110133-GC-CT |
c.5033_5034delinsAG |
p.G1678E |
Missense |
15/46 |
- |
1 |
16-2110134-C-G |
c.5033G>C |
p.G1678A |
Missense |
15/46 |
- |
1 |
16-2110135-C-G |
c.5032G>C |
p.G1678R |
Missense |
15/46 |
- |
1 |
16-2110137-G-C |
c.5030C>G |
p.A1677G |
Missense |
15/46 |
- |
1 |
16-2110141-G-A |
c.5026C>T |
p.L1676= |
Synonymous |
15/46 |
- |
1 |
16-2110142-G-A |
c.5025C>T |
p.A1675= |
Synonymous |
15/46 |
- |
6 |
16-2110142-G-C |
c.5025C>G |
p.A1675= |
Synonymous |
15/46 |
- |
2 |
16-2110142-G-T |
c.5025C>A |
p.A1675= |
Synonymous |
15/46 |
- |
2 |
16-2110146-G-A |
c.5021C>T |
p.P1674L |
Missense |
15/46 |
- |
2 |
16-2110147-G-A |
c.5020C>T |
p.P1674S |
Missense |
15/46 |
- |
1 |
16-2110148-G-GC |
c.5018dup |
p.A1675Gfs*96 |
Frameshift |
15/46 |
- |
1 |
16-2110152-CCT-C |
c.5014_5015del |
p.R1672Gfs*98 |
Frameshift |
15/46 |
- |
22 |
16-2110152-C-T |
c.5015G>A |
p.R1672K |
Missense |
15/46 |
- |
1 |
16-2110153-T-C |
c.5014A>G |
p.R1672G |
Missense |
15/46 |
- |
1 |
16-2110156-C-T |
c.5011G>A |
p.D1671N |
Missense |
15/46 |
- |
1 |
16-2110157-CCT-ATG |
c.5008_5010delinsCAT |
p.R1670H |
Missense |
15/46 |
- |
1 |
16-2110158-C-T |
c.5009G>A |
p.R1670K |
Missense |
15/46 |
- |
1 |
16-2110163-G-A |
c.5004C>T |
p.A1668= |
Synonymous |
15/46 |
- |
1 |
16-2110163-G-C |
c.5004C>G |
p.A1668= |
Synonymous |
15/46 |
- |
1 |
16-2110165-C-T |
c.5002G>A |
p.A1668T |
Missense |
15/46 |
- |
1 |
16-2110168-T-C |
c.4999A>G |
p.T1667A |
Missense |
15/46 |
- |
1 |
16-2110168-T-G |
c.4999A>C |
p.T1667P |
Missense |
15/46 |
- |
2 |
16-2110170-C-G |
c.4997G>C |
p.W1666S |
Missense |
15/46 |
- |
1 |
16-2110170-C-T |
c.4997G>A |
p.W1666* |
Nonsense |
15/46 |
- |
1 |
16-2110184-G-A |
c.4983C>T |
p.N1661= |
Synonymous |
15/46 |
- |
1 |
16-2110190-G-T |
c.4977C>A |
p.G1659= |
Synonymous |
15/46 |
- |
1 |
16-2110191-C-T |
c.4976G>A |
p.G1659D |
Missense |
15/46 |
- |
2 |
16-2110196-C-A |
c.4971G>T |
p.R1657S |
Missense |
15/46 |
- |
1 |
16-2110196-C-G |
c.4971G>C |
p.R1657S |
Missense |
15/46 |
- |
1 |
16-2110198-CT-C |
c.4969del |
p.R1657Gfs*65 |
Frameshift |
15/46 |
- |
1 |
16-2110198-TA-G |
c.4968_4969delinsC |
p.R1657Gfs*65 |
Frameshift |
15/46 |
- |
1 |
16-2110199-A-C |
c.4968T>G |
p.V1656= |
Synonymous |
15/46 |
- |
1 |
16-2110199-A-G |
c.4968T>C |
p.V1656= |
Synonymous |
15/46 |
- |
2 |
16-2110199-A-T |
c.4968T>A |
p.V1656= |
Synonymous |
15/46 |
- |
1 |
16-2110201-C-T |
c.4966G>A |
p.V1656I |
Missense |
15/46 |
- |
1 |
16-2110206-G-A |
c.4961C>T |
p.A1654V |
Missense |
15/46 |
- |
1 |
16-2110206-G-T |
c.4961C>A |
p.A1654D |
Missense |
15/46 |
- |
1 |
16-2110210-G-A |
c.4957C>T |
p.Q1653* |
Nonsense |
15/46 |
- |
2 |
16-2110211-C-T |
c.4956G>A |
p.L1652= |
Synonymous |
15/46 |
- |
1 |
16-2110212-A-G |
c.4955T>C |
p.L1652P |
Missense |
15/46 |
- |
1 |
16-2110214-C-T |
c.4953G>A |
p.Q1651= |
Synonymous |
15/46 |
- |
1 |
16-2110216-G-A |
c.4951C>T |
p.Q1651* |
Nonsense |
15/46 |
- |
3 |
16-2110219-C-G |
c.4948G>C |
p.V1650L |
Missense |
15/46 |
- |
1 |
16-2110221-G-A |
c.4946C>T |
p.T1649M |
Missense |
15/46 |
- |
4 |
16-2110232-G-A |
c.4935C>T |
p.P1645= |
Synonymous |
15/46 |
- |
1 |
16-2110232-G-C |
c.4935C>G |
p.P1645= |
Synonymous |
15/46 |
- |
1 |
16-2110232-G-T |
c.4935C>A |
p.P1645= |
Synonymous |
15/46 |
- |
1 |
16-2110233-G-A |
c.4934C>T |
p.P1645L |
Missense |
15/46 |
- |
2 |
16-2110233-G-C |
c.4934C>G |
p.P1645R |
Missense |
15/46 |
- |
1 |
16-2110234-G-A |
c.4933C>T |
p.P1645S |
Missense |
15/46 |
- |
1 |
16-2110231-TG-T |
c.4935del |
p.T1646Pfs*76 |
Frameshift |
15/46 |
- |
1 |
16-2110238-G-C |
c.4929C>G |
p.Y1643* |
Nonsense |
15/46 |
- |
1 |
16-2110241-G-A |
c.4926C>T |
p.R1642= |
Synonymous |
15/46 |
- |
1 |
16-2110243-G-A |
c.4924C>T |
p.R1642C |
Missense |
15/46 |
- |
1 |
16-2110248-C-T |
c.4919G>A |
p.G1640D |
Missense |
15/46 |
- |
1 |
16-2110249-C-G |
c.4918G>C |
p.G1640R |
Missense |
15/46 |
- |
3 |
16-2110249-C-T |
c.4918G>A |
p.G1640S |
Missense |
15/46 |
- |
1 |
16-2110250-G-A |
c.4917C>T |
p.G1639= |
Synonymous |
15/46 |
- |
2 |
16-2110250-G-C |
c.4917C>G |
p.G1639= |
Synonymous |
15/46 |
- |
1 |
16-2110250-G-T |
c.4917C>A |
p.G1639= |
Synonymous |
15/46 |
- |
1 |
16-2110251-C-G |
c.4916G>C |
p.G1639A |
Missense |
15/46 |
- |
1 |
16-2110252-C-A |
c.4915G>T |
p.G1639C |
Missense |
15/46 |
- |
1 |
16-2110250-G-GC |
c.4916dup |
p.G1640Rfs*18 |
Frameshift |
15/46 |
- |
1 |
16-2110253-C-T |
c.4914G>A |
p.V1638= |
Synonymous |
15/46 |
- |
1 |
16-2110255-C-T |
c.4912G>A |
p.V1638M |
Missense |
15/46 |
- |
1 |
16-2110269-T-TA |
c.4897_4898insT |
p.E1633Vfs*25 |
Frameshift |
15/46 |
- |
1 |
16-2110272-A-G |
c.4895T>C |
p.I1632T |
Missense |
15/46 |
- |
3 |
16-2110273-T-C |
c.4894A>G |
p.I1632V |
Missense |
15/46 |
- |
1 |
16-2110275-A-C |
c.4892T>G |
p.L1631R |
Missense |
15/46 |
- |
1 |
16-2110276-G-A |
c.4891C>T |
p.L1631F |
Missense |
15/46 |
- |
1 |
16-2110277-C-T |
c.4890G>A |
p.Q1630= |
Synonymous |
15/46 |
- |
1 |
16-2110279-G-A |
c.4888C>T |
p.Q1630* |
Nonsense |
15/46 |
- |
2 |
16-2110282-G-C |
c.4885C>G |
p.L1629V |
Missense |
15/46 |
- |
1 |
16-2110283-G-A |
c.4884C>T |
p.V1628= |
Synonymous |
15/46 |
- |
1 |
16-2110283-GA-CT |
c.4883_4884delinsAG |
p.V1628E |
Missense |
15/46 |
- |
1 |
16-2110283-G-C |
c.4884C>G |
p.V1628= |
Synonymous |
15/46 |
- |
1 |
16-2110283-G-T |
c.4884C>A |
p.V1628= |
Synonymous |
15/46 |
- |
1 |
16-2110284-A-T |
c.4883T>A |
p.V1628D |
Missense |
15/46 |
- |
1 |
16-2110283-GACAT-G |
c.4880_4883del |
p.Y1627Sfs*5 |
Frameshift |
15/46 |
- |
1 |
16-2110285-C-T |
c.4882G>A |
p.V1628I |
Missense |
15/46 |
- |
1 |
16-2110286-A-C |
c.4881T>G |
p.Y1627* |
Nonsense |
15/46 |
- |
1 |
16-2110286-A-T |
c.4881T>A |
p.Y1627* |
Nonsense |
15/46 |
- |
4 |
16-2110291-C-T |
c.4876G>A |
p.V1626I |
Missense |
15/46 |
- |
1 |
16-2110292-G-A |
c.4875C>T |
p.F1625= |
Synonymous |
15/46 |
- |
1 |
16-2110294-A-G |
c.4873T>C |
p.F1625L |
Missense |
15/46 |
- |
2 |
16-2110295-G-A |
c.4872C>T |
p.I1624= |
Synonymous |
15/46 |
- |
1 |
16-2110304-C-A |
c.4863G>T |
p.Q1621H |
Missense |
15/46 |
- |
1 |
16-2110304-C-G |
c.4863G>C |
p.Q1621H |
Missense |
15/46 |
- |
1 |
16-2110306-G-A |
c.4861C>T |
p.Q1621* |
Nonsense |
15/46 |
- |
3 |
16-2110309-C-T |
c.4858G>A |
p.A1620T |
Missense |
15/46 |
- |
5 |
16-2110310-G-A |
c.4857C>T |
p.S1619= |
Synonymous |
15/46 |
- |
5 |
16-2110310-G-C |
c.4857C>G |
p.S1619= |
Synonymous |
15/46 |
- |
1 |
16-2110310-G-T |
c.4857C>A |
p.S1619= |
Synonymous |
15/46 |
- |
1 |
16-2110311-G-A |
c.4856C>T |
p.S1619F |
Missense |
15/46 |
- |
9 |
16-2110315-C-G |
c.4852G>C |
p.G1618R |
Missense |
15/46 |
- |
1 |
16-2110321-C-A |
c.4846G>T |
p.E1616* |
Nonsense |
15/46 |
- |
1 |
16-2110321-C-T |
c.4846G>A |
p.E1616K |
Missense |
15/46 |
- |
1 |
16-2110322-G-A |
c.4845C>T |
p.N1615= |
Synonymous |
15/46 |
- |
1 |
16-2110325-C-A |
c.4842G>T |
p.E1614D |
Missense |
15/46 |
- |
2 |
16-2110325-C-G |
c.4842G>C |
p.E1614D |
Missense |
15/46 |
- |
3 |
16-2110329-G-A |
c.4838C>T |
p.A1613V |
Missense |
15/46 |
- |
1 |
16-2110329-GC-CA |
c.4837_4838delinsTG |
p.A1613C |
Missense |
15/46 |
- |
1 |
16-2110331-C-A |
c.4836G>T |
p.T1612= |
Synonymous |
15/46 |
- |
2 |
16-2110331-C-G |
c.4836G>C |
p.T1612= |
Synonymous |
15/46 |
- |
2 |
16-2110331-C-T |
c.4836G>A |
p.T1612= |
Synonymous |
15/46 |
- |
3 |
16-2110332-G-A |
c.4835C>T |
p.T1612M |
Missense |
15/46 |
- |
3 |
16-2110332-G-GT |
c.4834dup |
p.T1612Nfs*3 |
Frameshift |
15/46 |
- |
1 |
16-2110335-A-T |
c.4832T>A |
p.V1611D |
Missense |
15/46 |
- |
1 |
16-2110336-C-T |
c.4831G>A |
p.V1611I |
Missense |
15/46 |
- |
2 |
16-2110337-G-A |
c.4830C>T |
p.I1610= |
Synonymous |
15/46 |
- |
5 |
16-2110337-G-T |
c.4830C>A |
p.I1610= |
Synonymous |
15/46 |
- |
2 |
16-2110336-CGAT-C |
c.4828_4830del |
p.I1610del |
InFrameDeletion |
15/46 |
- |
1 |
16-2110349-G-A |
c.4818C>T |
p.T1606= |
Synonymous |
15/46 |
- |
1 |
16-2110350-G-C |
c.4817C>G |
p.T1606S |
Missense |
15/46 |
- |
1 |
16-2110357-C-T |
c.4810G>A |
p.V1604M |
Missense |
15/46 |
- |
8 |
16-2110358-G-A |
c.4809C>T |
p.S1603= |
Synonymous |
15/46 |
- |
2 |
16-2110358-GG-TT |
c.4808_4809delinsAA |
p.S1603* |
Nonsense |
15/46 |
- |
1 |
16-2110359-G-A |
c.4808C>T |
p.S1603F |
Missense |
15/46 |
- |
2 |
16-2110361-G-A |
c.4806C>T |
p.R1602= |
Synonymous |
15/46 |
- |
1 |
16-2110362-C-T |
c.4805G>A |
p.R1602H |
Missense |
15/46 |
- |
2 |
16-2110363-G-A |
c.4804C>T |
p.R1602C |
Missense |
15/46 |
- |
2 |
16-2110362-CG-C |
c.4804del |
p.R1602Afs*31 |
Frameshift |
15/46 |
- |
1 |
16-2110367-GG-CA |
c.4799_4800delinsTG |
p.T1600M |
Missense |
15/46 |
- |
1 |
16-2110368-G-GT |
c.4798dup |
p.T1600Nfs*15 |
Frameshift |
15/46 |
- |
1 |
16-2110370-G-C |
c.4797C>G |
p.Y1599* |
Nonsense |
15/46 |
- |
2 |
16-2110370-G-T |
c.4797C>A |
p.Y1599* |
Nonsense |
15/46 |
- |
5 |
16-2110370-G-GT |
c.4796dup |
p.Y1599* |
Nonsense |
15/46 |
- |
1 |
16-2110371-T-C |
c.4796A>G |
p.Y1599C |
Missense |
15/46 |
- |
1 |
16-2110374-G-A |
c.4793C>T |
p.S1598F |
Missense |
15/46 |
- |
2 |
16-2110374-G-C |
c.4793C>G |
p.S1598C |
Missense |
15/46 |
- |
1 |
16-2110379-G-A |
c.4788C>T |
p.T1596= |
Synonymous |
15/46 |
- |
1 |
16-2110394-G-C |
c.4773C>G |
p.I1591M |
Missense |
15/46 |
- |
1 |
16-2110400-C-A |
c.4767G>T |
p.T1589= |
Synonymous |
15/46 |
- |
1 |
16-2110400-C-G |
c.4767G>C |
p.T1589= |
Synonymous |
15/46 |
- |
1 |
16-2110400-C-T |
c.4767G>A |
p.T1589= |
Synonymous |
15/46 |
- |
1 |
16-2110401-G-A |
c.4766C>T |
p.T1589M |
Missense |
15/46 |
- |
2 |
16-2110408-G-A |
c.4759C>T |
p.R1587C |
Missense |
15/46 |
- |
9 |
16-2110409-G-C |
c.4758C>G |
p.D1586E |
Missense |
15/46 |
- |
1 |
16-2110409-G-T |
c.4758C>A |
p.D1586E |
Missense |
15/46 |
- |
1 |
16-2110410-T-A |
c.4757A>T |
p.D1586V |
Missense |
15/46 |
- |
1 |
16-2110410-T-C |
c.4757A>G |
p.D1586G |
Missense |
15/46 |
- |
1 |
16-2110411-C-G |
c.4756G>C |
p.D1586H |
Missense |
15/46 |
- |
3 |
16-2110418-C-A |
c.4749G>T |
p.V1583= |
Synonymous |
15/46 |
- |
1 |
16-2110418-C-G |
c.4749G>C |
p.V1583= |
Synonymous |
15/46 |
- |
1 |
16-2110418-C-T |
c.4749G>A |
p.V1583= |
Synonymous |
15/46 |
- |
1 |
16-2110421-C-T |
c.4746G>A |
p.W1582* |
Nonsense |
15/46 |
- |
1 |
16-2110422-C-G |
c.4745G>C |
p.W1582S |
Missense |
15/46 |
- |
1 |
16-2110425-G-A |
c.4742C>T |
p.S1581F |
Missense |
15/46 |
- |
3 |
16-2110425-G-T |
c.4742C>A |
p.S1581Y |
Missense |
15/46 |
- |
2 |
16-2110426-A-G |
c.4741T>C |
p.S1581P |
Missense |
15/46 |
- |
1 |
16-2110428-T-C |
c.4739A>G |
p.Y1580C |
Missense |
15/46 |
- |
1 |
16-2110429-A-G |
c.4738T>C |
p.Y1580H |
Missense |
15/46 |
- |
1 |
16-2110436-A-T |
c.4731T>A |
p.D1577E |
Missense |
15/46 |
- |
1 |
16-2110438-C-A |
c.4729G>T |
p.D1577Y |
Missense |
15/46 |
- |
1 |
16-2110446-G-A |
c.4721C>T |
p.A1574V |
Missense |
15/46 |
- |
3 |
16-2110448-C-A |
c.4719G>T |
p.E1573D |
Missense |
15/46 |
- |
1 |
16-2110448-C-G |
c.4719G>C |
p.E1573D |
Missense |
15/46 |
- |
1 |
16-2110450-C-G |
c.4717G>C |
p.E1573Q |
Missense |
15/46 |
- |
1 |
16-2110455-G-T |
c.4712C>A |
p.S1571* |
Nonsense |
15/46 |
- |
1 |
16-2110456-A-C |
c.4711T>G |
p.S1571A |
Missense |
15/46 |
- |
2 |
16-2110456-A-G |
c.4711T>C |
p.S1571P |
Missense |
15/46 |
- |
1 |
16-2110457-C-A |
c.4710G>T |
p.T1570= |
Synonymous |
15/46 |
- |
1 |
16-2110457-C-G |
c.4710G>C |
p.T1570= |
Synonymous |
15/46 |
- |
1 |
16-2110457-C-T |
c.4710G>A |
p.T1570= |
Synonymous |
15/46 |
- |
1 |
16-2110458-G-A |
c.4709C>T |
p.T1570M |
Missense |
15/46 |
- |
7 |
16-2110459-T-C |
c.4708A>G |
p.T1570A |
Missense |
15/46 |
- |
1 |
16-2110466-G-T |
c.4701C>A |
p.S1567R |
Missense |
15/46 |
- |
1 |
16-2110467-C-G |
c.4700G>C |
p.S1567T |
Missense |
15/46 |
- |
1 |
16-2110469-C-CT |
c.4697_4698insA |
p.S1567Efs*11 |
Frameshift |
15/46 |
- |
1 |
16-2110471-C-T |
c.4696G>A |
p.V1566M |
Missense |
15/46 |
- |
1 |
16-2110472-G-A |
c.4695C>T |
p.S1565= |
Synonymous |
15/46 |
- |
1 |
16-2110473-C-T |
c.4694G>A |
p.S1565N |
Missense |
15/46 |
- |
1 |
16-2110475-C-T |
c.4692G>A |
p.G1564= |
Synonymous |
15/46 |
- |
1 |
16-2110476-C-T |
c.4691G>A |
p.G1564E |
Missense |
15/46 |
- |
1 |
16-2110481-C-A |
c.4686G>T |
p.L1562= |
Synonymous |
15/46 |
- |
1 |
16-2110481-C-G |
c.4686G>C |
p.L1562= |
Synonymous |
15/46 |
- |
1 |
16-2110481-C-T |
c.4686G>A |
p.L1562= |
Synonymous |
15/46 |
- |
1 |
16-2110483-G-A |
c.4684C>T |
p.L1562= |
Synonymous |
15/46 |
- |
1 |
16-2110482-A-G |
c.4685T>C |
p.L1562P |
Missense |
15/46 |
- |
1 |
16-2110486-G-T |
c.4681C>A |
p.P1561T |
Missense |
15/46 |
- |
1 |
16-2110487-C-T |
c.4680G>A |
p.V1560= |
Synonymous |
15/46 |
- |
1 |
16-2110488-A-G |
c.4679T>C |
p.V1560A |
Missense |
15/46 |
- |
1 |
16-2110489-C-A |
c.4678G>T |
p.V1560L |
Missense |
15/46 |
- |
1 |
16-2110489-C-G |
c.4678G>C |
p.V1560L |
Missense |
15/46 |
- |
1 |
16-2110489-C-T |
c.4678G>A |
p.V1560M |
Missense |
15/46 |
- |
1 |
16-2110493-C-A |
c.4674G>T |
p.T1558= |
Synonymous |
15/46 |
- |
3 |
16-2110493-C-G |
c.4674G>C |
p.T1558= |
Synonymous |
15/46 |
- |
3 |
16-2110493-C-T |
c.4674G>A |
p.T1558= |
Synonymous |
15/46 |
- |
18 |
16-2110494-G-A |
c.4673C>T |
p.T1558M |
Missense |
15/46 |
- |
1 |
16-2110496-GCG-CCA |
c.4669_4671delinsTGG |
p.R1557W |
Missense |
15/46 |
- |
1 |
16-2110497-C-G |
c.4670G>C |
p.R1557P |
Missense |
15/46 |
- |
2 |
16-2110497-C-T |
c.4670G>A |
p.R1557H |
Missense |
15/46 |
- |
1 |
16-2110498-G-A |
c.4669C>T |
p.R1557C |
Missense |
15/46 |
- |
1 |
16-2110499-G-A |
c.4668C>T |
p.S1556= |
Synonymous |
15/46 |
- |
1 |
16-2110502-T-A |
c.4665A>T |
p.A1555= |
Synonymous |
15/46 |
- |
8 |
16-2110502-T-G |
c.4665A>C |
p.A1555= |
Synonymous |
15/46 |
- |
14 |
16-2110503-G-C |
c.4664C>G |
p.A1555G |
Missense |
15/46 |
- |
3 |
16-2110504-C-T |
c.4663G>A |
p.A1555T |
Missense |
15/46 |
- |
2 |
16-2110506-T-C |
c.4661A>G |
p.N1554S |
Missense |
15/46 |
- |
1 |
16-2110511-G-A |
c.4656C>T |
p.V1552= |
Synonymous |
15/46 |
- |
2 |
16-2110507-TGAC-T |
c.4657_4659del |
p.V1553del |
InFrameDeletion |
15/46 |
- |
1 |
16-2110513-C-T |
c.4654G>A |
p.V1552I |
Missense |
15/46 |
- |
4 |
16-2110516-G-C |
c.4651C>G |
p.L1551V |
Missense |
15/46 |
- |
2 |
16-2110521-C-T |
c.4646G>A |
p.R1549Q |
Missense |
15/46 |
- |
3 |
16-2110525-C-T |
c.4642G>A |
p.V1548M |
Missense |
15/46 |
- |
4 |
16-2110527-C-A |
c.4640G>T |
p.R1547L |
Missense |
15/46 |
- |
1 |
16-2110527-C-T |
c.4640G>A |
p.R1547H |
Missense |
15/46 |
- |
2 |
16-2110528-G-A |
c.4639C>T |
p.R1547C |
Missense |
15/46 |
- |
3 |
16-2110530-C-A |
c.4637G>T |
p.R1546L |
Missense |
15/46 |
- |
1 |
16-2110537-C-T |
c.4630G>A |
p.V1544M |
Missense |
15/46 |
- |
1 |
16-2110537-CCGTCA-C |
c.4625_4629del |
p.V1542Gfs*34 |
Frameshift |
15/46 |
- |
1 |
16-2110540-TCA-T |
c.4625_4626del |
p.V1542Dfs*35 |
Frameshift |
15/46 |
- |
1 |
16-2110546-T-G |
c.4621A>C |
p.N1541H |
Missense |
15/46 |
- |
2 |
16-2110554-G-A |
c.4613C>T |
p.A1538V |
Missense |
15/46 |
- |
1 |
16-2110554-G-C |
c.4613C>G |
p.A1538G |
Missense |
15/46 |
- |
1 |
16-2110557-T-C |
c.4610A>G |
p.E1537G |
Missense |
15/46 |
- |
2 |
16-2110558-C-A |
c.4609G>T |
p.E1537* |
Nonsense |
15/46 |
- |
5 |
16-2110558-C-T |
c.4609G>A |
p.E1537K |
Missense |
15/46 |
- |
4 |
16-2110559-G-A |
c.4608C>T |
p.S1536= |
Synonymous |
15/46 |
- |
2 |
16-2110560-CT-GG |
c.4606_4607delinsCC |
p.S1536P |
Missense |
15/46 |
- |
1 |
16-2110562-GCG-CAT |
c.4603_4605delinsATG |
p.R1535M |
Missense |
15/46 |
- |
1 |
16-2110562-GCG-CCA |
c.4603_4605delinsTGG |
p.R1535W |
Missense |
15/46 |
- |
1 |
16-2110563-C-A |
c.4604G>T |
p.R1535L |
Missense |
15/46 |
- |
2 |
16-2110563-C-T |
c.4604G>A |
p.R1535H |
Missense |
15/46 |
- |
2 |
16-2110564-G-A |
c.4603C>T |
p.R1535C |
Missense |
15/46 |
- |
6 |
16-2110565-G-A |
c.4602C>T |
p.S1534= |
Synonymous |
15/46 |
- |
1 |
16-2110566-CT-TA |
c.4600_4601delinsTA |
p.S1534Y |
Missense |
15/46 |
- |
1 |
16-2110574-A-T |
c.4593T>A |
p.N1531K |
Missense |
15/46 |
- |
1 |
16-2110577-C-A |
c.4590G>T |
p.W1530C |
Missense |
15/46 |
- |
2 |
16-2110577-C-G |
c.4590G>C |
p.W1530C |
Missense |
15/46 |
- |
2 |
16-2110580-G-A |
c.4587C>T |
p.G1529= |
Synonymous |
15/46 |
- |
1 |
16-2110580-G-C |
c.4587C>G |
p.G1529= |
Synonymous |
15/46 |
- |
1 |
16-2110580-G-T |
c.4587C>A |
p.G1529= |
Synonymous |
15/46 |
- |
1 |
16-2110581-C-T |
c.4586G>A |
p.G1529D |
Missense |
15/46 |
- |
1 |
16-2110584-G-A |
c.4583C>T |
p.A1528V |
Missense |
15/46 |
- |
2 |
16-2110586-CCACCCTAACGGTGAAGTCACCTGTGCTGTTG-C |
c.4551_4581del |
p.Y1517* |
Frameshift |
15/46 |
- |
1 |
16-2110590-C-T |
c.4577G>A |
p.R1526K |
Missense |
15/46 |
- |
1 |
16-2110593-A-C |
c.4574T>G |
p.V1525G |
Missense |
15/46 |
- |
4 |
16-2110594-C-T |
c.4573G>A |
p.V1525I |
Missense |
15/46 |
- |
1 |
16-2110595-G-A |
c.4572C>T |
p.T1524= |
Synonymous |
15/46 |
- |
1 |
16-2110595-G-C |
c.4572C>G |
p.T1524= |
Synonymous |
15/46 |
- |
1 |
16-2110595-G-T |
c.4572C>A |
p.T1524= |
Synonymous |
15/46 |
- |
1 |
16-2110596-G-A |
c.4571C>T |
p.T1524I |
Missense |
15/46 |
- |
3 |
16-2110598-G-A |
c.4569C>T |
p.F1523= |
Synonymous |
15/46 |
- |
3 |
16-2110603-C-T |
c.4564G>A |
p.D1522N |
Missense |
15/46 |
- |
1 |
16-2110611-C-T |
c.4556G>A |
p.S1519N |
Missense |
15/46 |
- |
1 |
16-2110614-T-G |
c.4553A>C |
p.N1518T |
Missense |
15/46 |
- |
1 |
16-2110616-G-A |
c.4551C>T |
p.Y1517= |
Synonymous |
15/46 |
- |
1 |
16-2110616-G-C |
c.4551C>G |
p.Y1517* |
Nonsense |
15/46 |
- |
2 |
16-2110616-G-T |
c.4551C>A |
p.Y1517* |
Nonsense |
15/46 |
- |
3 |
16-2110616-G-GT |
c.4550dup |
p.Y1517* |
Nonsense |
15/46 |
- |
1 |
16-2110617-T-G |
c.4550A>C |
p.Y1517S |
Missense |
15/46 |
- |
1 |
16-2110620-G-A |
c.4547C>T |
p.A1516V |
Missense |
15/46 |
- |
2 |
16-2110620-GC-CA |
c.4546_4547delinsTG |
p.A1516C |
Missense |
15/46 |
- |
1 |
16-2110621-C-A |
c.4546G>T |
p.A1516S |
Missense |
15/46 |
- |
1 |
16-2110621-C-T |
c.4546G>A |
p.A1516T |
Missense |
15/46 |
- |
16 |
16-2110622-G-A |
c.4545C>T |
p.H1515= |
Synonymous |
15/46 |
- |
1 |
16-2110624-G-C |
c.4543C>G |
p.H1515D |
Missense |
15/46 |
- |
2 |
16-2110626-G-A |
c.4541C>T |
p.T1514I |
Missense |
15/46 |
- |
1 |
16-2110629-A-C |
c.4538T>G |
p.V1513G |
Missense |
15/46 |
- |
1 |
16-2110635-G-A |
c.4532C>T |
p.P1511L |
Missense |
15/46 |
- |
1 |
16-2110642-C-T |
c.4525G>A |
p.E1509K |
Missense |
15/46 |
- |
2 |
16-2110644-A-C |
c.4523T>G |
p.L1508R |
Missense |
15/46 |
- |
1 |
16-2110647-C-T |
c.4520G>A |
p.W1507* |
Nonsense |
15/46 |
- |
2 |
16-2110648-A-G |
c.4519T>C |
p.W1507R |
Missense |
15/46 |
- |
1 |
16-2110648-A-T |
c.4519T>A |
p.W1507R |
Missense |
15/46 |
- |
1 |
16-2110654-C-A |
c.4513G>T |
p.G1505C |
Missense |
15/46 |
- |
2 |
16-2110654-C-G |
c.4513G>C |
p.G1505R |
Missense |
15/46 |
- |
1 |
16-2110657-C-T |
c.4510G>A |
p.D1504N |
Missense |
15/46 |
- |
1 |
16-2110660-C-T |
c.4507G>A |
p.G1503R |
Missense |
15/46 |
- |
1 |
16-2110661-C-A |
c.4506G>T |
p.L1502= |
Synonymous |
15/46 |
- |
1 |
16-2110661-C-G |
c.4506G>C |
p.L1502= |
Synonymous |
15/46 |
- |
1 |
16-2110661-C-T |
c.4506G>A |
p.L1502= |
Synonymous |
15/46 |
- |
1 |
16-2110663-G-A |
c.4504C>T |
p.L1502= |
Synonymous |
15/46 |
- |
1 |
16-2110662-A-G |
c.4505T>C |
p.L1502P |
Missense |
15/46 |
- |
1 |
16-2110663-G-T |
c.4504C>A |
p.L1502M |
Missense |
15/46 |
- |
2 |
16-2110669-A-C |
c.4498T>G |
p.W1500G |
Missense |
15/46 |
- |
1 |
16-2110670-C-A |
c.4497G>T |
p.L1499= |
Synonymous |
15/46 |
- |
1 |
16-2110670-C-G |
c.4497G>C |
p.L1499= |
Synonymous |
15/46 |
- |
1 |
16-2110670-C-T |
c.4497G>A |
p.L1499= |
Synonymous |
15/46 |
- |
1 |
16-2110672-G-A |
c.4495C>T |
p.L1499= |
Synonymous |
15/46 |
- |
5 |
16-2110673-G-C |
c.4494C>G |
p.Y1498* |
Nonsense |
15/46 |
- |
1 |
16-2110673-G-GT |
c.4493dup |
p.Y1498* |
Nonsense |
15/46 |
- |
1 |
16-2110675-A-G |
c.4492T>C |
p.Y1498H |
Missense |
15/46 |
- |
1 |
16-2110676-G-C |
c.4491C>G |
p.S1497R |
Missense |
15/46 |
- |
1 |
16-2110676-G-T |
c.4491C>A |
p.S1497R |
Missense |
15/46 |
- |
2 |
16-2110678-T-G |
c.4489A>C |
p.S1497R |
Missense |
15/46 |
- |
1 |
16-2110681-C-T |
c.4486G>A |
p.A1496T |
Missense |
15/46 |
- |
1 |
16-2110682-G-A |
c.4485C>T |
p.P1495= |
Synonymous |
15/46 |
- |
2 |
16-2110682-G-C |
c.4485C>G |
p.P1495= |
Synonymous |
15/46 |
- |
1 |
16-2110682-G-T |
c.4485C>A |
p.P1495= |
Synonymous |
15/46 |
- |
1 |
16-2110683-G-A |
c.4484C>T |
p.P1495L |
Missense |
15/46 |
- |
1 |
16-2110681-CG-C |
c.4485del |
p.A1496Pfs*38 |
Frameshift |
15/46 |
- |
1 |
16-2110686-C-T |
c.4481G>A |
p.R1494H |
Missense |
15/46 |
- |
9 |
16-2110687-G-A |
c.4480C>T |
p.R1494C |
Missense |
15/46 |
- |
2 |
16-2110690-C-CTG |
c.4476_4477insCA |
p.G1493Qfs*42 |
Frameshift |
15/46 |
- |
1 |
16-2110692-C-A |
c.4475G>T |
p.R1492L |
Missense |
15/46 |
- |
1 |
16-2110692-C-G |
c.4475G>C |
p.R1492P |
Missense |
15/46 |
- |
1 |
16-2110692-C-T |
c.4475G>A |
p.R1492H |
Missense |
15/46 |
- |
2 |
16-2110693-G-A |
c.4474C>T |
p.R1492C |
Missense |
15/46 |
- |
1 |
16-2110694-G-A |
c.4473C>T |
p.G1491= |
Synonymous |
15/46 |
- |
1 |
16-2110695-C-A |
c.4472G>T |
p.G1491V |
Missense |
15/46 |
- |
1 |
16-2110706-G-T |
c.4461C>A |
p.F1487L |
Missense |
15/46 |
- |
2 |
16-2110706-G-C |
c.4461C>G |
p.F1487L |
Missense |
15/46 |
- |
1 |
16-2110708-A-G |
c.4459T>C |
p.F1487L |
Missense |
15/46 |
- |
1 |
16-2110712-G-C |
c.4455C>G |
p.Y1485* |
Nonsense |
15/46 |
- |
1 |
16-2110712-G-T |
c.4455C>A |
p.Y1485* |
Nonsense |
15/46 |
- |
1 |
16-2110715-C-A |
c.4452G>T |
p.P1484= |
Synonymous |
15/46 |
- |
1 |
16-2110715-C-G |
c.4452G>C |
p.P1484= |
Synonymous |
15/46 |
- |
1 |
16-2110715-C-T |
c.4452G>A |
p.P1484= |
Synonymous |
15/46 |
- |
3 |
16-2110716-G-A |
c.4451C>T |
p.P1484L |
Missense |
15/46 |
- |
3 |
16-2110717-G-A |
c.4450C>T |
p.P1484S |
Missense |
15/46 |
- |
1 |
16-2110718-C-T |
c.4449G>A |
p.Q1483= |
Synonymous |
15/46 |
- |
1 |
16-2110719-TG-GT |
c.4447_4448delinsAC |
p.Q1483T |
Missense |
15/46 |
- |
1 |
16-2110720-G-A |
c.4447C>T |
p.Q1483* |
Nonsense |
15/46 |
- |
5 |
16-2110723-G-A |
c.4444C>T |
p.Q1482* |
Nonsense |
15/46 |
- |
1 |
16-2110724-C-A |
c.4443G>T |
p.L1481= |
Synonymous |
15/46 |
- |
1 |
16-2110726-G-A |
c.4441C>T |
p.L1481= |
Synonymous |
15/46 |
- |
1 |
16-2110728-T-C |
c.4439A>G |
p.E1480G |
Missense |
15/46 |
- |
1 |
16-2110732-AG-A |
c.4435del |
p.L1479Wfs*55 |
Frameshift |
15/46 |
- |
1 |
16-2110738-G-A |
c.4429C>T |
p.L1477F |
Missense |
15/46 |
- |
1 |
16-2110742-G-T |
c.4425C>A |
p.G1475= |
Synonymous |
15/46 |
- |
2 |
16-2110744-CCA-C |
c.4422_4423del |
p.N1474Kfs*48 |
Frameshift |
15/46 |
- |
1 |
16-2110744-C-CA |
c.4422dup |
p.G1475Wfs*48 |
Frameshift |
15/46 |
- |
1 |
16-2110745-A-C |
c.4422T>G |
p.N1474K |
Missense |
15/46 |
- |
1 |
16-2110749-A-C |
c.4418T>G |
p.V1473G |
Missense |
15/46 |
- |
1 |
16-2110752-T-C |
c.4415A>G |
p.K1472R |
Missense |
15/46 |
- |
1 |
16-2110751-CTTGA-C |
c.4412_4415del |
p.I1471Rfs*62 |
Frameshift |
15/46 |
- |
1 |
16-2110753-T-A |
c.4414A>T |
p.K1472* |
Nonsense |
15/46 |
- |
1 |
16-2110754-G-C |
c.4413C>G |
p.I1471M |
Missense |
15/46 |
- |
1 |
16-2110760-G-C |
c.4407C>G |
p.T1469= |
Synonymous |
15/46 |
- |
1 |
16-2110765-C-A |
c.4402G>T |
p.V1468F |
Missense |
15/46 |
- |
1 |
16-2110765-C-T |
c.4402G>A |
p.V1468I |
Missense |
15/46 |
- |
3 |
16-2110766-C-G |
c.4401G>C |
p.L1467= |
Synonymous |
15/46 |
- |
1 |
16-2110771-C-T |
c.4396G>A |
p.V1466M |
Missense |
15/46 |
- |
1 |
16-2110772-G-A |
c.4395C>T |
p.P1465= |
Synonymous |
15/46 |
- |
1 |
16-2110774-G-A |
c.4393C>T |
p.P1465S |
Missense |
15/46 |
- |
1 |
16-2110774-G-T |
c.4393C>A |
p.P1465T |
Missense |
15/46 |
- |
1 |
16-2110776-T-C |
c.4391A>G |
p.E1464G |
Missense |
15/46 |
- |
1 |
16-2110777-C-T |
c.4390G>A |
p.E1464K |
Missense |
15/46 |
- |
3 |
16-2110778-C-A |
c.4389G>T |
p.Q1463H |
Missense |
15/46 |
- |
2 |
16-2110780-G-A |
c.4387C>T |
p.Q1463* |
Nonsense |
15/46 |
- |
1 |
16-2110784-C-CG |
c.4382_4383insC |
p.E1461Dfs*62 |
Frameshift |
15/46 |
- |
1 |
16-2110786-CCA-C |
c.4379_4380del |
p.V1460Gfs*62 |
Frameshift |
15/46 |
- |
1 |
16-2110791-CA-C |
c.4376del |
p.L1459Rfs*75 |
Frameshift |
15/46 |
- |
1 |
16-2110792-G-A |
c.4375C>T |
p.L1459= |
Synonymous |
15/46 |
- |
1 |
16-2110794-G-A |
c.4373C>T |
p.A1458V |
Missense |
15/46 |
- |
1 |
16-2110793-GGCTGA-G |
c.4369_4373del |
p.S1457Pfs*64 |
Frameshift |
15/46 |
- |
2 |
16-2110796-TGA-T |
c.4369_4370del |
p.A1458Pfs*64 |
Frameshift |
15/46 |
- |
4 |
16-2110807-C-A |
c.4360G>T |
p.A1454S |
Missense |
15/46 |
- |
1 |
16-2110807-C-T |
c.4360G>A |
p.A1454T |
Missense |
15/46 |
- |
2 |
16-2110811-A-C |
c.4356T>G |
p.S1452= |
Synonymous |
15/46 |
- |
2 |
16-2110811-A-G |
c.4356T>C |
p.S1452= |
Synonymous |
15/46 |
- |
2 |
16-2110811-A-T |
c.4356T>A |
p.S1452= |
Synonymous |
15/46 |
- |
2 |
16-2110812-G-A |
c.4355C>T |
p.S1452F |
Missense |
15/46 |
- |
1 |
16-2110813-A-G |
c.4354T>C |
p.S1452P |
Missense |
15/46 |
- |
1 |
16-2110815-ATGT-A |
c.4349_4351del |
p.N1450del |
InFrameDeletion |
15/46 |
- |
1 |
16-2110822-T-C |
c.4345A>G |
p.N1449D |
Missense |
15/46 |
- |
1 |
16-2110824-G-A |
c.4343C>T |
p.S1448F |
Missense |
15/46 |
- |
4 |
16-2110826-C-G |
c.4341G>C |
p.A1447= |
Synonymous |
15/46 |
- |
1 |
16-2110827-G-A |
c.4340C>T |
p.A1447V |
Missense |
15/46 |
- |
7 |
16-2110828-C-T |
c.4339G>A |
p.A1447T |
Missense |
15/46 |
- |
2 |
16-2110831-T-G |
c.4336A>C |
p.T1446P |
Missense |
15/46 |
- |
1 |
16-2110840-C-A |
c.4327G>T |
p.V1443L |
Missense |
15/46 |
- |
1 |
16-2110841-A-G |
c.4326T>C |
p.L1442= |
Synonymous |
15/46 |
- |
2 |
16-2110844-A-G |
c.4323T>C |
p.Y1441= |
Synonymous |
15/46 |
- |
1 |
16-2110845-TAGG-T |
c.4319_4321del |
p.S1440del |
InFrameDeletion |
15/46 |
- |
2 |
16-2110851-C-T |
c.4316G>A |
p.G1439D |
Missense |
15/46 |
- |
1 |
16-2110855-G-A |
c.4312C>T |
p.P1438S |
Missense |
15/46 |
- |
1 |
16-2110858-C-A |
c.4309G>T |
p.D1437Y |
Missense |
15/46 |
- |
1 |
16-2110860-C-A |
c.4307G>T |
p.R1436L |
Missense |
15/46 |
- |
1 |
16-2110860-C-T |
c.4307G>A |
p.R1436Q |
Missense |
15/46 |
- |
1 |
16-2110861-G-A |
c.4306C>T |
p.R1436* |
Nonsense |
15/46 |
- |
9 |
16-2110863-T-C |
c.4304A>G |
p.Y1435C |
Missense |
15/46 |
- |
1 |
16-2110865-G-A |
c.4302C>T |
p.I1434= |
Synonymous |
15/46 |
- |
1 |
16-2110865-G-T |
c.4302C>A |
p.I1434= |
Synonymous |
15/46 |
- |
1 |
16-2110866-A-G |
c.4301T>C |
p.I1434T |
Missense |
15/46 |
- |
1 |
16-2110879-C-T |
c.4288G>A |
p.E1430K |
Missense |
15/46 |
- |
2 |
16-2110880-A-T |
c.4287T>A |
p.P1429= |
Synonymous |
15/46 |
- |
1 |
16-2110882-G-A |
c.4285C>T |
p.P1429S |
Missense |
15/46 |
- |
1 |
16-2110886-C-T |
c.4281G>A |
p.R1427= |
Synonymous |
15/46 |
- |
1 |
16-2110883-GC-G |
c.4283del |
p.G1428Afs*4 |
Frameshift |
15/46 |
- |
1 |
16-2110892-ACG-CTT |
c.4273_4275delinsAAG |
p.R1425K |
Missense |
15/46 |
- |
1 |
16-2110893-C-A |
c.4274G>T |
p.R1425L |
Missense |
15/46 |
- |
1 |
16-2110893-C-T |
c.4274G>A |
p.R1425H |
Missense |
15/46 |
- |
1 |
16-2110894-G-A |
c.4273C>T |
p.R1425C |
Missense |
15/46 |
- |
2 |
16-2110897-T-C |
c.4270A>G |
p.T1424A |
Missense |
15/46 |
- |
1 |
16-2110898-G-A |
c.4269C>T |
p.P1423= |
Synonymous |
15/46 |
- |
1 |
16-2110899-G-T |
c.4268C>A |
p.P1423H |
Missense |
15/46 |
- |
1 |
16-2110900-G-A |
c.4267C>T |
p.P1423S |
Missense |
15/46 |
- |
3 |
16-2110897-TG-T |
c.4269del |
p.T1424Pfs*8 |
Frameshift |
15/46 |
- |
1 |
16-2110902-G-A |
c.4265C>T |
p.A1422V |
Missense |
15/46 |
- |
1 |
16-2110902-G-T |
c.4265C>A |
p.A1422D |
Missense |
15/46 |
- |
2 |
16-2110903-C-T |
c.4264G>A |
p.A1422T |
Missense |
15/46 |
- |
4 |
16-2110904-G-A |
c.4263C>T |
p.A1421= |
Synonymous |
15/46 |
- |
1 |
16-2110904-G-C |
c.4263C>G |
p.A1421= |
Synonymous |
15/46 |
- |
1 |
16-2110904-G-T |
c.4263C>A |
p.A1421= |
Synonymous |
15/46 |
- |
1 |
16-2110910-C-T |
c.4257G>A |
p.E1419= |
Synonymous |
15/46 |
- |
1 |
16-2110911-T-C |
c.4256A>G |
p.E1419G |
Missense |
15/46 |
- |
1 |
16-2110912-C-A |
c.4255G>T |
p.E1419* |
Nonsense |
15/46 |
- |
1 |
16-2110912-C-T |
c.4255G>A |
p.E1419K |
Missense |
15/46 |
- |
1 |
16-2110914-G-C |
c.4253C>G |
p.T1418S |
Missense |
15/46 |
- |
1 |
16-2110915-T-A |
c.4252A>T |
p.T1418S |
Missense |
15/46 |
- |
1 |
16-2110919-A-G |
c.4248T>C |
p.F1416= |
Synonymous |
15/46 |
- |
1 |
16-2110918-C-CA |
c.4248dup |
p.G1417Wfs*14 |
Frameshift |
15/46 |
- |
1 |
16-2110925-C-A |
c.4242G>T |
p.W1414C |
Missense |
15/46 |
- |
1 |
16-2110925-C-G |
c.4242G>C |
p.W1414C |
Missense |
15/46 |
- |
1 |
16-2110925-C-T |
c.4242G>A |
p.W1414* |
Nonsense |
15/46 |
- |
1 |
16-2110926-C-G |
c.4241G>C |
p.W1414S |
Missense |
15/46 |
- |
3 |
16-2110926-C-T |
c.4241G>A |
p.W1414* |
Nonsense |
15/46 |
- |
1 |
16-2110928-GGT-G |
c.4237_4238del |
p.T1413Lfs*17 |
Frameshift |
15/46 |
- |
1 |
16-2110934-G-A |
c.4233C>T |
p.R1411= |
Synonymous |
15/46 |
- |
1 |
16-2110934-GCG-CCA |
c.4231_4233delinsTGG |
p.R1411W |
Missense |
15/46 |
- |
2 |
16-2110934-GC-TT |
c.4232_4233delinsAA |
p.R1411Q |
Missense |
15/46 |
- |
1 |
16-2110936-G-A |
c.4231C>T |
p.R1411C |
Missense |
15/46 |
- |
1 |
16-2110941-G-A |
c.4226C>T |
p.P1409L |
Missense |
15/46 |
- |
1 |
16-2110941-G-C |
c.4226C>G |
p.P1409R |
Missense |
15/46 |
- |
1 |
16-2110947-G-A |
c.4220C>T |
p.P1407L |
Missense |
15/46 |
- |
1 |
16-2110950-G-A |
c.4217C>T |
p.P1406L |
Missense |
15/46 |
- |
1 |
16-2110946-C-CG |
c.4220dup |
p.F1408Vfs*23 |
Frameshift |
15/46 |
- |
1 |
16-2110946-CG-C |
c.4220del |
p.P1407Rfs*25 |
Frameshift |
15/46 |
- |
1 |
16-2110950-GGCCA-G |
c.4213_4216del |
p.W1405Pfs*26 |
Frameshift |
15/46 |
- |
1 |
16-2110958-CA-C |
c.4209del |
p.C1403Wfs*29 |
Frameshift |
15/46 |
- |
1 |
16-2110968-CA-C |
c.4199del |
p.L1400Rfs*32 |
Frameshift |
15/46 |
- |
2 |
16-2110969-G-A |
c.4198C>T |
p.L1400= |
Synonymous |
15/46 |
- |
2 |
16-2110970-C-T |
c.4197G>A |
p.W1399* |
Nonsense |
15/46 |
- |
1 |
16-2110971-C-T |
c.4196G>A |
p.W1399* |
Nonsense |
15/46 |
- |
1 |
16-2110972-A-G |
c.4195T>C |
p.W1399R |
Missense |
15/46 |
- |
26 |
16-2110972-A-T |
c.4195T>A |
p.W1399R |
Missense |
15/46 |
- |
3 |
16-2110975-C-T |
c.4192G>A |
p.A1398T |
Missense |
15/46 |
- |
1 |
16-2110976-C-A |
c.4191G>T |
p.E1397D |
Missense |
15/46 |
- |
1 |
16-2110981-C-CCTACTGCCAAGCCTGGGGAAAG |
c.4185_4186insCTTTCCCCAGGCTTGGCAGTAG |
p.D1396Lfs*42 |
Frameshift |
15/46 |
- |
1 |
16-2110983-C-G |
c.4184G>C |
p.G1395A |
Missense |
15/46 |
- |
1 |
16-2110983-C-T |
c.4184G>A |
p.G1395E |
Missense |
15/46 |
- |
1 |
16-2110984-C-G |
c.4183G>C |
p.G1395R |
Missense |
15/46 |
- |
1 |
16-2110984-C-T |
c.4183G>A |
p.G1395R |
Missense |
15/46 |
- |
1 |
16-2110985-G-A |
c.4182C>T |
p.L1394= |
Synonymous |
15/46 |
- |
3 |
16-2110985-G-C |
c.4182C>G |
p.L1394= |
Synonymous |
15/46 |
- |
1 |
16-2110985-G-T |
c.4182C>A |
p.L1394= |
Synonymous |
15/46 |
- |
1 |
16-2110990-G-A |
c.4177C>T |
p.Q1393* |
Nonsense |
15/46 |
- |
4 |
16-2110999-G-A |
c.4168C>T |
p.Q1390* |
Nonsense |
15/46 |
- |
1 |
16-2111001-CT-AG |
c.4165_4166inv |
p.R1389L |
Missense |
15/46 |
- |
1 |
16-2111005-C-A |
c.4162G>T |
p.E1388* |
Nonsense |
15/46 |
- |
1 |
16-2111005-C-G |
c.4162G>C |
p.E1388Q |
Missense |
15/46 |
- |
2 |
16-2111006-T-A |
c.4161A>T |
p.P1387= |
Synonymous |
15/46 |
- |
2 |
16-2111006-T-C |
c.4161A>G |
p.P1387= |
Synonymous |
15/46 |
- |
2 |
16-2111006-T-G |
c.4161A>C |
p.P1387= |
Synonymous |
15/46 |
- |
2 |
16-2111007-G-A |
c.4160C>T |
p.P1387L |
Missense |
15/46 |
- |
1 |
16-2111008-G-A |
c.4159C>T |
p.P1387S |
Missense |
15/46 |
- |
1 |
16-2111014-G-A |
c.4153C>T |
p.L1385= |
Synonymous |
15/46 |
- |
1 |
16-2111017-T-C |
c.4150A>G |
p.T1384A |
Missense |
15/46 |
- |
1 |
16-2111020-C-T |
c.4147G>A |
p.V1383I |
Missense |
15/46 |
- |
2 |
16-2111024-G-A |
c.4143C>T |
p.G1381= |
Synonymous |
15/46 |
- |
4 |
16-2111024-G-C |
c.4143C>G |
p.G1381= |
Synonymous |
15/46 |
- |
2 |
16-2111024-G-T |
c.4143C>A |
p.G1381= |
Synonymous |
15/46 |
- |
2 |
16-2111028-A-G |
c.4139T>C |
p.V1380A |
Missense |
15/46 |
- |
1 |
16-2111029-C-T |
c.4138G>A |
p.V1380M |
Missense |
15/46 |
- |
1 |
16-2111030-C-A |
c.4137G>T |
p.E1379D |
Missense |
15/46 |
- |
2 |
16-2111030-C-G |
c.4137G>C |
p.E1379D |
Missense |
15/46 |
- |
2 |
16-2111031-T-A |
c.4136A>T |
p.E1379V |
Missense |
15/46 |
- |
1 |
16-2111031-T-C |
c.4136A>G |
p.E1379G |
Missense |
15/46 |
- |
1 |
16-2111041-C-T |
c.4126G>A |
p.V1376M |
Missense |
15/46 |
- |
5 |
16-2111043-C-T |
c.4124G>A |
p.C1375Y |
Missense |
15/46 |
- |
1 |
16-2111045-G-A |
c.4122C>T |
p.I1374= |
Synonymous |
15/46 |
- |
1 |
16-2111049-C-T |
c.4118G>A |
p.S1373N |
Missense |
15/46 |
- |
1 |
16-2111055-A-G |
c.4112T>C |
p.F1371S |
Missense |
15/46 |
- |
1 |
16-2111061-T-C |
c.4106A>G |
p.H1369R |
Missense |
15/46 |
- |
2 |
16-2111063-C-A |
c.4104G>T |
p.A1368= |
Synonymous |
15/46 |
- |
2 |
16-2111063-C-G |
c.4104G>C |
p.A1368= |
Synonymous |
15/46 |
- |
1 |
16-2111063-C-T |
c.4104G>A |
p.A1368= |
Synonymous |
15/46 |
- |
3 |
16-2111066-CCT-ATG |
c.4099_4101delinsCAT |
p.R1367H |
Missense |
15/46 |
- |
1 |
16-2111067-CCT-C |
c.4099_4100del |
p.R1367Gfs*63 |
Frameshift |
15/46 |
- |
1 |
16-2111067-CT-TG |
c.4099_4100delinsCA |
p.R1367Q |
Missense |
15/46 |
- |
1 |
16-2111076-CG-GT |
c.4090_4091delinsAC |
p.R1364T |
Missense |
15/46 |
- |
1 |
16-2111076-C-T |
c.4091G>A |
p.R1364H |
Missense |
15/46 |
- |
1 |
16-2111077-G-A |
c.4090C>T |
p.R1364C |
Missense |
15/46 |
- |
4 |
16-2111078-G-A |
c.4089C>T |
p.S1363= |
Synonymous |
15/46 |
- |
1 |
16-2111083-A-G |
c.4084T>C |
p.S1362P |
Missense |
15/46 |
- |
1 |
16-2111085-A-G |
c.4082T>C |
p.L1361P |
Missense |
15/46 |
- |
1 |
16-2111087-C-A |
c.4080G>T |
p.V1360= |
Synonymous |
15/46 |
- |
1 |
16-2111087-C-G |
c.4080G>C |
p.V1360= |
Synonymous |
15/46 |
- |
1 |
16-2111087-C-T |
c.4080G>A |
p.V1360= |
Synonymous |
15/46 |
- |
1 |
16-2111094-G-A |
c.4073C>T |
p.A1358V |
Missense |
15/46 |
- |
3 |
16-2111094-G-C |
c.4073C>G |
p.A1358G |
Missense |
15/46 |
- |
2 |
16-2111094-G-T |
c.4073C>A |
p.A1358E |
Missense |
15/46 |
- |
1 |
16-2111094-GC-G |
c.4072del |
p.A1358Rfs*8 |
Frameshift |
15/46 |
- |
1 |
16-2111096-C-A |
c.4071G>T |
p.L1357= |
Synonymous |
15/46 |
- |
4 |
16-2111096-C-G |
c.4071G>C |
p.L1357= |
Synonymous |
15/46 |
- |
1 |
16-2111096-C-T |
c.4071G>A |
p.L1357= |
Synonymous |
15/46 |
- |
1 |
16-2111098-G-A |
c.4069C>T |
p.L1357= |
Synonymous |
15/46 |
- |
1 |
16-2111097-CA-C |
c.4070del |
p.L1357Rfs*9 |
Frameshift |
15/46 |
- |
2 |
16-2111098-G-T |
c.4069C>A |
p.L1357M |
Missense |
15/46 |
- |
1 |
16-2111100-G-A |
c.4067C>T |
p.P1356L |
Missense |
15/46 |
- |
5 |
16-2111100-G-T |
c.4067C>A |
p.P1356H |
Missense |
15/46 |
- |
2 |
16-2111097-AG-A |
c.4069del |
p.L1357Wfs*9 |
Frameshift |
15/46 |
- |
2 |
16-2111104-A-C |
c.4063T>G |
p.F1355V |
Missense |
15/46 |
- |
1 |
16-2111105-C-A |
c.4062G>T |
p.T1354= |
Synonymous |
15/46 |
- |
2 |
16-2111105-C-G |
c.4062G>C |
p.T1354= |
Synonymous |
15/46 |
- |
2 |
16-2111105-C-T |
c.4062G>A |
p.T1354= |
Synonymous |
15/46 |
- |
4 |
16-2111108-G-A |
c.4059C>T |
p.G1353= |
Synonymous |
15/46 |
- |
1 |
16-2111108-G-C |
c.4059C>G |
p.G1353= |
Synonymous |
15/46 |
- |
1 |
16-2111108-G-T |
c.4059C>A |
p.G1353= |
Synonymous |
15/46 |
- |
1 |
16-2111110-C-T |
c.4057G>A |
p.G1353S |
Missense |
15/46 |
- |
2 |
16-2111111-G-A |
c.4056C>T |
p.S1352= |
Synonymous |
15/46 |
- |
3 |
16-2111112-C-T |
c.4055G>A |
p.S1352N |
Missense |
15/46 |
- |
4 |
16-2111114-C-A |
c.4053G>T |
p.R1351= |
Synonymous |
15/46 |
- |
3 |
16-2111114-CCG-ACA |
c.4051_4053delinsTGT |
p.R1351C |
Missense |
15/46 |
- |
1 |
16-2111115-CG-TA |
c.4051_4052delinsTA |
p.R1351* |
Nonsense |
15/46 |
- |
1 |
16-2111115-C-T |
c.4052G>A |
p.R1351Q |
Missense |
15/46 |
- |
2 |
16-2111116-G-A |
c.4051C>T |
p.R1351W |
Missense |
15/46 |
- |
6 |
16-2111114-CCG-C |
c.4051_4052del |
p.R1351Efs*79 |
Frameshift |
15/46 |
- |
1 |
16-2111117-C-A |
c.4050G>T |
p.T1350= |
Synonymous |
15/46 |
- |
1 |
16-2111117-C-G |
c.4050G>C |
p.T1350= |
Synonymous |
15/46 |
- |
1 |
16-2111117-C-T |
c.4050G>A |
p.T1350= |
Synonymous |
15/46 |
- |
1 |
16-2111118-G-A |
c.4049C>T |
p.T1350M |
Missense |
15/46 |
- |
1 |
16-2111120-G-A |
c.4047C>T |
p.F1349= |
Synonymous |
15/46 |
- |
4 |
16-2111122-A-G |
c.4045T>C |
p.F1349L |
Missense |
15/46 |
- |
1 |
16-2111128-G-A |
c.4039C>T |
p.H1347Y |
Missense |
15/46 |
- |
1 |
16-2111128-G-C |
c.4039C>G |
p.H1347D |
Missense |
15/46 |
- |
1 |
16-2111124-TTG-T |
c.4041_4042del |
p.H1347Qfs*83 |
Frameshift |
15/46 |
- |
1 |
16-2111130-G-A |
c.4037C>T |
p.T1346I |
Missense |
15/46 |
- |
1 |
16-2111133-A-C |
c.4034T>G |
p.V1345G |
Missense |
15/46 |
- |
1 |
16-2111134-C-T |
c.4033G>A |
p.V1345M |
Missense |
15/46 |
- |
3 |
16-2111136-G-A |
c.4031C>T |
p.T1344M |
Missense |
15/46 |
- |
1 |
16-2111138-C-A |
c.4029G>T |
p.P1343= |
Synonymous |
15/46 |
- |
2 |
16-2111141-G-A |
c.4026C>T |
p.C1342= |
Synonymous |
15/46 |
- |
3 |
16-2111143-AC-A |
c.4023del |
p.C1342Afs*4 |
Frameshift |
15/46 |
- |
1 |
16-2111148-C-A |
c.4019G>T |
p.R1340L |
Missense |
15/46 |
- |
2 |
16-2111148-CG-TA |
c.4018_4019delinsTA |
p.R1340* |
Nonsense |
15/46 |
- |
1 |
16-2111148-C-T |
c.4019G>A |
p.R1340Q |
Missense |
15/46 |
- |
2 |
16-2111149-G-A |
c.4018C>T |
p.R1340W |
Missense |
15/46 |
- |
10 |
16-2111150-CAC-GAT |
c.4015_4017delinsATC |
p.V1339I |
Missense |
15/46 |
- |
1 |
16-2111152-C-T |
c.4015G>A |
p.V1339M |
Missense |
15/46 |
- |
2 |
16-2111153-G-A |
c.4014C>T |
p.T1338= |
Synonymous |
15/46 |
- |
3 |
16-2111153-G-C |
c.4014C>G |
p.T1338= |
Synonymous |
15/46 |
- |
1 |
16-2111153-G-T |
c.4014C>A |
p.T1338= |
Synonymous |
15/46 |
- |
1 |
16-2111157-G-A |
c.4010C>T |
p.T1337M |
Missense |
15/46 |
- |
3 |
16-2111157-GT-TC |
c.4009_4010delinsGA |
p.T1337E |
Missense |
15/46 |
- |
1 |
16-2111158-T-C |
c.4009A>G |
p.T1337A |
Missense |
15/46 |
- |
1 |
16-2111159-G-C |
c.4008C>G |
p.N1336K |
Missense |
15/46 |
- |
1 |
16-2111159-G-T |
c.4008C>A |
p.N1336K |
Missense |
15/46 |
- |
2 |
16-2111163-GA-CG |
c.4003_4004delinsCG |
p.S1335R |
Missense |
15/46 |
- |
1 |
16-2111166-G-A |
c.4001C>T |
p.S1334F |
Missense |
15/46 |
- |
1 |
16-2111169-C-A |
c.3998G>T |
p.G1333V |
Missense |
15/46 |
- |
2 |
16-2111173-C-T |
c.3994G>A |
p.D1332N |
Missense |
15/46 |
- |
5 |
16-2111175-C-A |
c.3992G>T |
p.G1331V |
Missense |
15/46 |
- |
1 |
16-2111175-C-G |
c.3992G>C |
p.G1331A |
Missense |
15/46 |
- |
1 |
16-2111183-C-G |
c.3984G>C |
p.W1328C |
Missense |
15/46 |
- |
1 |
16-2111184-C-T |
c.3983G>A |
p.W1328* |
Nonsense |
15/46 |
- |
1 |
16-2111185-A-G |
c.3982T>C |
p.W1328R |
Missense |
15/46 |
- |
2 |
16-2111186-G-C |
c.3981C>G |
p.D1327E |
Missense |
15/46 |
- |
1 |
16-2111186-G-T |
c.3981C>A |
p.D1327E |
Missense |
15/46 |
- |
1 |
16-2111187-T-G |
c.3980A>C |
p.D1327A |
Missense |
15/46 |
- |
2 |
16-2111188-C-A |
c.3979G>T |
p.D1327Y |
Missense |
15/46 |
- |
1 |
16-2111189-G-A |
c.3978C>T |
p.F1326= |
Synonymous |
15/46 |
- |
3 |
16-2111195-G-C |
c.3972C>G |
p.Y1324* |
Nonsense |
15/46 |
- |
1 |
16-2111195-G-T |
c.3972C>A |
p.Y1324* |
Nonsense |
15/46 |
- |
1 |
16-2111199-T-C |
c.3968A>G |
p.H1323R |
Missense |
15/46 |
- |
1 |
16-2111203-C-T |
c.3964G>A |
p.A1322T |
Missense |
15/46 |
- |
1 |
16-2111211-C-G |
c.3956G>C |
p.G1319A |
Missense |
15/46 |
- |
2 |
16-2111212-C-G |
c.3955G>C |
p.G1319R |
Missense |
15/46 |
- |
3 |
16-2111212-C-T |
c.3955G>A |
p.G1319R |
Missense |
15/46 |
- |
6 |
16-2111218-C-G |
c.3949G>C |
p.V1317L |
Missense |
15/46 |
- |
1 |
16-2111219-G-A |
c.3948C>T |
p.Y1316= |
Synonymous |
15/46 |
- |
2 |
16-2111220-T-A |
c.3947A>T |
p.Y1316F |
Missense |
15/46 |
- |
1 |
16-2111222-G-A |
c.3945C>T |
p.A1315= |
Synonymous |
15/46 |
- |
1 |
16-2111222-G-C |
c.3945C>G |
p.A1315= |
Synonymous |
15/46 |
- |
1 |
16-2111222-G-T |
c.3945C>A |
p.A1315= |
Synonymous |
15/46 |
- |
1 |
16-2111223-GC-G |
c.3943del |
p.A1315Pfs*31 |
Frameshift |
15/46 |
- |
1 |
16-2111225-C-A |
c.3942G>T |
p.T1314= |
Synonymous |
15/46 |
- |
2 |
16-2111225-C-G |
c.3942G>C |
p.T1314= |
Synonymous |
15/46 |
- |
2 |
16-2111225-C-T |
c.3942G>A |
p.T1314= |
Synonymous |
15/46 |
- |
2 |
16-2111230-G-A |
c.3937C>T |
p.L1313F |
Missense |
15/46 |
- |
2 |
16-2111231-CC-AT |
c.3935_3936delinsAT |
p.R1312H |
Missense |
15/46 |
- |
1 |
16-2111232-C-T |
c.3935G>A |
p.R1312Q |
Missense |
15/46 |
- |
3 |
16-2111233-G-A |
c.3934C>T |
p.R1312W |
Missense |
15/46 |
- |
1 |
16-2111235-G-A |
c.3932C>T |
p.A1311V |
Missense |
15/46 |
- |
1 |
16-2111236-C-T |
c.3931G>A |
p.A1311T |
Missense |
15/46 |
- |
5 |
16-2111237-CGT-C |
c.3929_3930del |
p.D1310Gfs*120 |
Frameshift |
15/46 |
- |
1 |
16-2111242-G-A |
c.3925C>T |
p.P1309S |
Missense |
15/46 |
- |
1 |
16-2111242-G-T |
c.3925C>A |
p.P1309T |
Missense |
15/46 |
- |
1 |
16-2111244-T-C |
c.3923A>G |
p.Q1308R |
Missense |
15/46 |
- |
1 |
16-2111245-G-A |
c.3922C>T |
p.Q1308* |
Nonsense |
15/46 |
- |
1 |
16-2111246-C-A |
c.3921G>T |
p.T1307= |
Synonymous |
15/46 |
- |
2 |
16-2111246-C-G |
c.3921G>C |
p.T1307= |
Synonymous |
15/46 |
- |
2 |
16-2111246-C-T |
c.3921G>A |
p.T1307= |
Synonymous |
15/46 |
- |
3 |
16-2111243-CTGCGTGGGGA-C |
c.3914_3923del |
p.I1305Sfs*38 |
Frameshift |
15/46 |
- |
2 |
16-2111250-G-C |
c.3917C>G |
p.P1306R |
Missense |
15/46 |
- |
1 |
16-2111256-C-T |
c.3911G>A |
p.C1304Y |
Missense |
15/46 |
- |
1 |
16-2111260-C-T |
c.3907G>A |
p.A1303T |
Missense |
15/46 |
- |
2 |
16-2111267-T-C |
c.3900A>G |
p.E1300= |
Synonymous |
15/46 |
- |
1 |
16-2111269-C-T |
c.3898G>A |
p.E1300K |
Missense |
15/46 |
- |
1 |
16-2111272-C-T |
c.3895G>A |
p.V1299I |
Missense |
15/46 |
- |
1 |
16-2111274-C-A |
c.3893G>T |
p.R1298L |
Missense |
15/46 |
- |
1 |
16-2111275-G-A |
c.3892C>T |
p.R1298C |
Missense |
15/46 |
- |
1 |
16-2111276-C-CGTG |
c.3890_3891insCAC |
p.L1297_R1298insT |
InFrameInsertion |
15/46 |
- |
1 |
16-2111281-C-T |
c.3886G>A |
p.V1296M |
Missense |
15/46 |
- |
1 |
16-2111283-T-A |
c.3884A>T |
p.E1295V |
Missense |
15/46 |
- |
1 |
16-2111284-C-A |
c.3883G>T |
p.E1295* |
Nonsense |
15/46 |
- |
1 |
16-2111288-G-A |
c.3879C>T |
p.V1293= |
Synonymous |
15/46 |
- |
1 |
16-2111288-G-C |
c.3879C>G |
p.V1293= |
Synonymous |
15/46 |
- |
1 |
16-2111288-G-T |
c.3879C>A |
p.V1293= |
Synonymous |
15/46 |
- |
2 |
16-2111290-C-A |
c.3877G>T |
p.V1293F |
Missense |
15/46 |
- |
1 |
16-2111290-C-T |
c.3877G>A |
p.V1293I |
Missense |
15/46 |
- |
1 |
16-2111291-G-A |
c.3876C>T |
p.F1292= |
Synonymous |
15/46 |
- |
2 |
16-2111291-G-C |
c.3876C>G |
p.F1292L |
Missense |
15/46 |
- |
2 |
16-2111291-G-T |
c.3876C>A |
p.F1292L |
Missense |
15/46 |
- |
3 |
16-2111296-C-T |
c.3871G>A |
p.V1291I |
Missense |
15/46 |
- |
1 |
16-2111299-G-C |
c.3868C>G |
p.L1290V |
Missense |
15/46 |
- |
7 |
16-2111302-C-T |
c.3865G>A |
p.V1289M |
Missense |
15/46 |
- |
2 |
16-2111310-CT-TA |
c.3856_3857delinsTA |
p.S1286Y |
Missense |
15/46 |
- |
1 |
16-2111312-CC-AT |
c.3854_3855delinsAT |
p.R1285H |
Missense |
15/46 |
- |
1 |
16-2111312-TCCGGGCCAG-T |
c.3847_3855del |
p.L1283_R1285del |
InFrameDeletion |
15/46 |
- |
1 |
16-2111311-TC-T |
c.3855del |
p.S1286Afs*60 |
Frameshift |
15/46 |
- |
2 |
16-2111313-C-T |
c.3854G>A |
p.R1285Q |
Missense |
15/46 |
- |
5 |
16-2111312-C-A |
c.3855G>T |
p.R1285= |
Synonymous |
15/46 |
- |
1 |
16-2111312-C-G |
c.3855G>C |
p.R1285= |
Synonymous |
15/46 |
- |
1 |
16-2111312-C-T |
c.3855G>A |
p.R1285= |
Synonymous |
15/46 |
- |
1 |
16-2111314-G-A |
c.3853C>T |
p.R1285W |
Missense |
15/46 |
- |
3 |
16-2111314-G-T |
c.3853C>A |
p.R1285= |
Synonymous |
15/46 |
- |
1 |
16-2111315-G-A |
c.3852C>T |
p.A1284= |
Synonymous |
15/46 |
- |
1 |
16-2111315-G-C |
c.3852C>G |
p.A1284= |
Synonymous |
15/46 |
- |
1 |
16-2111315-G-T |
c.3852C>A |
p.A1284= |
Synonymous |
15/46 |
- |
1 |
16-2111317-C-T |
c.3850G>A |
p.A1284T |
Missense |
15/46 |
- |
1 |
16-2111320-G-T |
c.3847C>A |
p.L1283M |
Missense |
15/46 |
- |
1 |
16-2111319-AGGTGGCCGGCGGGGCTG-A |
c.3831_3847del |
p.S1278Gfs*17 |
Frameshift |
15/46 |
- |
1 |
16-2111326-C-T |
c.3841G>A |
p.G1281S |
Missense |
15/46 |
- |
1 |
16-2111327-G-A |
c.3840C>T |
p.A1280= |
Synonymous |
15/46 |
- |
2 |
16-2111329-C-A |
c.3838G>T |
p.A1280S |
Missense |
15/46 |
- |
1 |
16-2111333-G-T |
c.3834C>A |
p.S1278R |
Missense |
15/46 |
- |
1 |
16-2111334-CT-AA |
c.3832_3833delinsTT |
p.S1278F |
Missense |
15/46 |
- |
1 |
16-2111334-CT-GG |
c.3832_3833delinsCC |
p.S1278P |
Missense |
15/46 |
- |
1 |
16-2111335-T-C |
c.3832A>G |
p.S1278G |
Missense |
15/46 |
- |
1 |
16-2111337-G-A |
c.3830C>T |
p.A1277V |
Missense |
15/46 |
- |
2 |
16-2111339-C-T |
c.3828G>A |
p.A1276= |
Synonymous |
15/46 |
- |
1 |
16-2111343-C-A |
c.3824G>T |
p.G1275V |
Missense |
15/46 |
- |
2 |
16-2111342-AC-A |
c.3824del |
p.G1275Vfs*71 |
Frameshift |
15/46 |
- |
1 |
16-2111346-A-T |
c.3821T>A |
p.V1274E |
Missense |
15/46 |
- |
1 |
16-2111347-C-T |
c.3820G>A |
p.V1274M |
Missense |
15/46 |
- |
4 |
16-2111348-G-A |
c.3819C>T |
p.T1273= |
Synonymous |
15/46 |
- |
2 |
16-2111348-G-C |
c.3819C>G |
p.T1273= |
Synonymous |
15/46 |
- |
1 |
16-2111348-G-T |
c.3819C>A |
p.T1273= |
Synonymous |
15/46 |
- |
1 |
16-2111365-G-A |
c.3802C>T |
p.Q1268* |
Nonsense |
15/46 |
- |
1 |
16-2111368-C-T |
c.3799G>A |
p.A1267T |
Missense |
15/46 |
- |
3 |
16-2111370-C-A |
c.3797G>T |
p.R1266L |
Missense |
15/46 |
- |
1 |
16-2111370-C-G |
c.3797G>C |
p.R1266P |
Missense |
15/46 |
- |
1 |
16-2111372-C-A |
c.3795G>T |
p.L1265= |
Synonymous |
15/46 |
- |
1 |
16-2111372-C-G |
c.3795G>C |
p.L1265= |
Synonymous |
15/46 |
- |
1 |
16-2111372-C-T |
c.3795G>A |
p.L1265= |
Synonymous |
15/46 |
- |
1 |
16-2111374-G-A |
c.3793C>T |
p.L1265= |
Synonymous |
15/46 |
- |
1 |
16-2111375-G-T |
c.3792C>A |
p.Y1264* |
Nonsense |
15/46 |
- |
1 |
16-2111382-T-TG |
c.3784dup |
p.H1262Pfs*39 |
Frameshift |
15/46 |
- |
1 |
16-2111385-T-G |
c.3782A>C |
p.E1261A |
Missense |
15/46 |
- |
1 |
16-2111386-C-CA |
c.3780_3781insT |
p.E1261* |
Nonsense |
15/46 |
- |
1 |
16-2111386-C-T |
c.3781G>A |
p.E1261K |
Missense |
15/46 |
- |
1 |
16-2111387-CAC-GAT |
c.3778_3780delinsATC |
p.V1260I |
Missense |
15/46 |
- |
1 |
16-2111390-T-C |
c.3777A>G |
p.T1259= |
Synonymous |
15/46 |
- |
1 |
16-2111390-TGT-ACA |
c.3775_3777inv |
p.T1259C |
Missense |
15/46 |
- |
1 |
16-2111388-ACTGTTGC-A |
c.3772_3778del |
p.A1258Wfs*13 |
Frameshift |
15/46 |
- |
1 |
16-2111394-G-T |
c.3773C>A |
p.A1258E |
Missense |
15/46 |
- |
1 |
16-2111395-C-T |
c.3772G>A |
p.A1258T |
Missense |
15/46 |
- |
1 |
16-2111401-G-A |
c.3766C>T |
p.P1256S |
Missense |
15/46 |
- |
4 |
16-2111406-G-A |
c.3761C>T |
p.S1254L |
Missense |
15/46 |
- |
1 |
16-2111413-C-T |
c.3754G>A |
p.V1252M |
Missense |
15/46 |
- |
1 |
16-2111419-C-A |
c.3748G>T |
p.G1250C |
Missense |
15/46 |
- |
1 |
16-2111419-C-T |
c.3748G>A |
p.G1250S |
Missense |
15/46 |
- |
3 |
16-2111420-G-A |
c.3747C>T |
p.D1249= |
Synonymous |
15/46 |
- |
3 |
16-2111421-TC-T |
c.3745del |
p.D1249Tfs*24 |
Frameshift |
15/46 |
- |
2 |
16-2111426-CCATGTCG-C |
c.3735_3741del |
p.F1245Lfs*26 |
Frameshift |
15/46 |
- |
1 |
16-2111426-C-T |
c.3741G>A |
p.M1247I |
Missense |
15/46 |
- |
1 |
16-2111431-C-G |
c.3736G>C |
p.D1246H |
Missense |
15/46 |
- |
1 |
16-2111431-C-T |
c.3736G>A |
p.D1246N |
Missense |
15/46 |
- |
2 |
16-2111432-G-A |
c.3735C>T |
p.F1245= |
Synonymous |
15/46 |
- |
2 |
16-2111439-C-T |
c.3728G>A |
p.W1243* |
Nonsense |
15/46 |
- |
3 |
16-2111442-G-A |
c.3725C>T |
p.T1242M |
Missense |
15/46 |
- |
3 |
16-2111447-G-A |
c.3720C>T |
p.N1240= |
Synonymous |
15/46 |
- |
1 |
16-2111445-ATGT-A |
c.3719_3721del |
p.N1240del |
InFrameDeletion |
15/46 |
- |
1 |
16-2111455-C-T |
c.3712G>A |
p.G1238S |
Missense |
15/46 |
- |
1 |
16-2111457-G-A |
c.3710C>T |
p.T1237M |
Missense |
15/46 |
- |
1 |
16-2111461-G-A |
c.3706C>T |
p.Q1236* |
Nonsense |
15/46 |
- |
1 |
16-2111466-G-A |
c.3701C>T |
p.A1234V |
Missense |
15/46 |
- |
3 |
16-2111468-G-A |
c.3699C>T |
p.A1233= |
Synonymous |
15/46 |
- |
1 |
16-2111470-C-T |
c.3697G>A |
p.A1233T |
Missense |
15/46 |
- |
1 |
16-2111471-G-A |
c.3696C>T |
p.S1232= |
Synonymous |
15/46 |
- |
2 |
16-2111472-C-G |
c.3695G>C |
p.S1232T |
Missense |
15/46 |
- |
1 |
16-2111482-AC-A |
c.3685del |
p.V1229Wfs*44 |
Frameshift |
15/46 |
- |
1 |
16-2111482-C-T |
c.3685G>A |
p.V1229M |
Missense |
15/46 |
- |
2 |
16-2111483-G-A |
c.3684C>T |
p.P1228= |
Synonymous |
15/46 |
- |
3 |
16-2111483-G-C |
c.3684C>G |
p.P1228= |
Synonymous |
15/46 |
- |
1 |
16-2111478-ACCACGGGGGCGCCCTGCT-A |
c.3671_3688del |
p.E1224_V1229del |
InFrameDeletion |
15/46 |
- |
1 |
16-2111482-CG-C |
c.3684del |
p.V1229Wfs*44 |
Frameshift |
15/46 |
- |
2 |
16-2111488-C-A |
c.3679G>T |
p.A1227S |
Missense |
15/46 |
- |
3 |
16-2111488-C-T |
c.3679G>A |
p.A1227T |
Missense |
15/46 |
- |
1 |
16-2111489-G-A |
c.3678C>T |
p.G1226= |
Synonymous |
15/46 |
- |
1 |
16-2111489-G-C |
c.3678C>G |
p.G1226= |
Synonymous |
15/46 |
- |
1 |
16-2111489-G-T |
c.3678C>A |
p.G1226= |
Synonymous |
15/46 |
- |
1 |
16-2111491-C-CG |
c.3675_3676insC |
p.G1226Rfs*75 |
Frameshift |
15/46 |
- |
1 |
16-2111494-G-A |
c.3673C>T |
p.Q1225* |
Nonsense |
15/46 |
- |
1 |
16-2111497-C-A |
c.3670G>T |
p.E1224* |
Nonsense |
15/46 |
- |
1 |
16-2111497-C-G |
c.3670G>C |
p.E1224Q |
Missense |
15/46 |
- |
1 |
16-2111499-A-G |
c.3668T>C |
p.V1223A |
Missense |
15/46 |
- |
1 |
16-2111500-C-T |
c.3667G>A |
p.V1223M |
Missense |
15/46 |
- |
3 |
16-2111503-C-G |
c.3664G>C |
p.A1222P |
Missense |
15/46 |
- |
1 |
16-2111511-A-T |
c.3656T>A |
p.M1219K |
Missense |
15/46 |
- |
1 |
16-2111514-GT-G |
c.3653del |
p.D1218Afs*2 |
Frameshift |
15/46 |
- |
1 |
16-2111519-G-A |
c.3648C>T |
p.S1216= |
Synonymous |
15/46 |
- |
1 |
16-2111519-G-C |
c.3648C>G |
p.S1216R |
Missense |
15/46 |
- |
1 |
16-2111519-G-T |
c.3648C>A |
p.S1216R |
Missense |
15/46 |
- |
1 |
16-2111521-T-G |
c.3646A>C |
p.S1216R |
Missense |
15/46 |
- |
1 |
16-2111520-C-A |
c.3647G>T |
p.S1216I |
Missense |
15/46 |
- |
1 |
16-2111520-C-G |
c.3647G>C |
p.S1216T |
Missense |
15/46 |
- |
1 |
16-2111521-T-C |
c.3646A>G |
p.S1216G |
Missense |
15/46 |
- |
1 |
16-2111523-A-T |
c.3644T>A |
p.L1215H |
Missense |
15/46 |
- |
2 |
16-2111524-G-C |
c.3643C>G |
p.L1215V |
Missense |
15/46 |
- |
2 |
16-2111528-G-A |
c.3639C>T |
p.R1213= |
Synonymous |
15/46 |
- |
1 |
16-2111528-G-C |
c.3639C>G |
p.R1213= |
Synonymous |
15/46 |
- |
1 |
16-2111528-G-T |
c.3639C>A |
p.R1213= |
Synonymous |
15/46 |
- |
1 |
16-2111529-C-T |
c.3638G>A |
p.R1213H |
Missense |
15/46 |
- |
1 |
16-2111532-A-C |
c.3635T>G |
p.L1212R |
Missense |
15/46 |
- |
1 |
16-2111533-G-A |
c.3634C>T |
p.L1212F |
Missense |
15/46 |
- |
1 |
16-2111539-C-T |
c.3628G>A |
p.E1210K |
Missense |
15/46 |
- |
1 |
16-2111545-C-T |
c.3622G>A |
p.V1208I |
Missense |
15/46 |
- |
2 |
16-2111547-C-A |
c.3620G>T |
p.R1207L |
Missense |
15/46 |
- |
1 |
16-2111548-G-A |
c.3619C>T |
p.R1207C |
Missense |
15/46 |
- |
2 |
16-2111550-A-C |
c.3617T>G |
p.V1206G |
Missense |
15/46 |
- |
2 |
16-2111551-C-T |
c.3616G>A |
p.V1206M |
Missense |
15/46 |
- |
1 |
16-2111546-GCGCACATCCGCCTGGGCCGC-G |
c.3601_3620del |
p.A1201Rfs*3 |
Frameshift |
15/46 |
- |
1 |
16-2111554-C-G |
c.3613G>C |
p.D1205H |
Missense |
15/46 |
- |
2 |
16-2111554-C-T |
c.3613G>A |
p.D1205N |
Missense |
15/46 |
- |
1 |
16-2111553-TC-T |
c.3613del |
p.D1205Mfs*15 |
Frameshift |
15/46 |
- |
1 |
16-2111555-C-A |
c.3612G>T |
p.A1204= |
Synonymous |
15/46 |
- |
1 |
16-2111555-C-G |
c.3612G>C |
p.A1204= |
Synonymous |
15/46 |
- |
1 |
16-2111555-CGC-ACA |
c.3610_3612delinsTGT |
p.A1204C |
Missense |
15/46 |
- |
1 |
16-2111555-C-T |
c.3612G>A |
p.A1204= |
Synonymous |
15/46 |
- |
1 |
16-2111556-G-A |
c.3611C>T |
p.A1204V |
Missense |
15/46 |
- |
1 |
16-2111560-G-A |
c.3607C>T |
p.Q1203* |
Nonsense |
15/46 |
- |
3 |
16-2111560-G-C |
c.3607C>G |
p.Q1203E |
Missense |
15/46 |
- |
1 |
16-2111563-C-T |
c.3604G>A |
p.A1202T |
Missense |
15/46 |
- |
1 |
16-2111565-G-A |
c.3602C>T |
p.A1201V |
Missense |
15/46 |
- |
2 |
16-2111567-C-T |
c.3600G>A |
p.A1200= |
Synonymous |
15/46 |
- |
1 |
16-2111568-G-A |
c.3599C>T |
p.A1200V |
Missense |
15/46 |
- |
1 |
16-2111568-G-T |
c.3599C>A |
p.A1200E |
Missense |
15/46 |
- |
1 |
16-2111572-C-T |
c.3595G>A |
p.G1199S |
Missense |
15/46 |
- |
2 |
16-2111573-G-A |
c.3594C>T |
p.S1198= |
Synonymous |
15/46 |
- |
1 |
16-2111576-C-A |
c.3591G>T |
p.V1197= |
Synonymous |
15/46 |
- |
1 |
16-2111576-C-G |
c.3591G>C |
p.V1197= |
Synonymous |
15/46 |
- |
1 |
16-2111576-C-T |
c.3591G>A |
p.V1197= |
Synonymous |
15/46 |
- |
1 |
16-2111578-C-G |
c.3589G>C |
p.V1197L |
Missense |
15/46 |
- |
1 |
16-2111578-C-T |
c.3589G>A |
p.V1197M |
Missense |
15/46 |
- |
1 |
16-2111580-G-A |
c.3587C>T |
p.T1196M |
Missense |
15/46 |
- |
3 |
16-2111588-G-A |
c.3579C>T |
p.V1193= |
Synonymous |
15/46 |
- |
1 |
16-2111589-AC-A |
c.3577del |
p.V1193Sfs*5 |
Frameshift |
15/46 |
- |
1 |
16-2111593-C-T |
c.3574G>A |
p.E1192K |
Missense |
15/46 |
- |
1 |
16-2111597-G-A |
c.3570C>T |
p.R1190= |
Synonymous |
15/46 |
- |
2 |
16-2111598-C-G |
c.3569G>C |
p.R1190P |
Missense |
15/46 |
- |
1 |
16-2111599-G-A |
c.3568C>T |
p.R1190C |
Missense |
15/46 |
- |
1 |
16-2111602-C-T |
c.3565G>A |
p.V1189M |
Missense |
15/46 |
- |
1 |
16-2111604-T-G |
c.3563A>C |
p.H1188P |
Missense |
15/46 |
- |
1 |
16-2111609-G-C |
c.3558C>G |
p.T1186= |
Synonymous |
15/46 |
- |
1 |
16-2111610-G-A |
c.3557C>T |
p.T1186I |
Missense |
15/46 |
- |
2 |
16-2111613-C-T |
c.3554G>A |
p.G1185D |
Missense |
15/46 |
- |
1 |
16-2111614-C-T |
c.3553G>A |
p.G1185S |
Missense |
15/46 |
- |
1 |
16-2111618-CG-AA |
c.3548_3549delinsTT |
p.S1183F |
Missense |
15/46 |
- |
1 |
16-2111619-G-C |
c.3548C>G |
p.S1183W |
Missense |
15/46 |
- |
6 |
16-2111623-C-G |
c.3544G>C |
p.A1182P |
Missense |
15/46 |
- |
1 |
16-2111624-A-T |
c.3543T>A |
p.Y1181* |
Nonsense |
15/46 |
- |
1 |
16-2111625-T-C |
c.3542A>G |
p.Y1181C |
Missense |
15/46 |
- |
3 |
16-2111626-A-T |
c.3541T>A |
p.Y1181N |
Missense |
15/46 |
- |
1 |
16-2111628-G-A |
c.3539C>T |
p.T1180I |
Missense |
15/46 |
- |
1 |
16-2111630-G-A |
c.3537C>T |
p.H1179= |
Synonymous |
15/46 |
- |
1 |
16-2111633-G-A |
c.3534C>T |
p.N1178= |
Synonymous |
15/46 |
- |
1 |
16-2111641-C-G |
c.3526G>C |
p.A1176P |
Missense |
15/46 |
- |
1 |
16-2111643-G-A |
c.3524C>T |
p.P1175L |
Missense |
15/46 |
- |
1 |
16-2111644-G-A |
c.3523C>T |
p.P1175S |
Missense |
15/46 |
- |
1 |
16-2111644-G-T |
c.3523C>A |
p.P1175T |
Missense |
15/46 |
- |
1 |
16-2111647-G-A |
c.3520C>T |
p.Q1174* |
Nonsense |
15/46 |
- |
1 |
16-2111647-G-C |
c.3520C>G |
p.Q1174E |
Missense |
15/46 |
- |
1 |
16-2111647-G-T |
c.3520C>A |
p.Q1174K |
Missense |
15/46 |
- |
1 |
16-2111651-C-T |
c.3516G>A |
p.Q1172= |
Synonymous |
15/46 |
- |
1 |
16-2111653-G-A |
c.3514C>T |
p.Q1172* |
Nonsense |
15/46 |
- |
2 |
16-2111654-G-A |
c.3513C>T |
p.T1171= |
Synonymous |
15/46 |
- |
4 |
16-2111654-G-C |
c.3513C>G |
p.T1171= |
Synonymous |
15/46 |
- |
6 |
16-2111654-G-T |
c.3513C>A |
p.T1171= |
Synonymous |
15/46 |
- |
3 |
16-2111655-G-A |
c.3512C>T |
p.T1171I |
Missense |
15/46 |
- |
1 |
16-2111660-G-A |
c.3507C>T |
p.V1169= |
Synonymous |
15/46 |
- |
1 |
16-2111659-GGACA-G |
c.3504_3507del |
p.V1169* |
Frameshift |
15/46 |
- |
1 |
16-2111664-G-C |
c.3503C>G |
p.P1168R |
Missense |
15/46 |
- |
1 |
16-2111665-G-A |
c.3502C>T |
p.P1168S |
Missense |
15/46 |
- |
14 |
16-2111665-G-C |
c.3502C>G |
p.P1168A |
Missense |
15/46 |
- |
1 |
16-2111667-GAGC-TTTCT |
c.3497_3500delinsAGAAA |
p.G1166Efs*45 |
Frameshift |
15/46 |
- |
1 |
16-2111671-C-A |
c.3496G>T |
p.G1166C |
Missense |
15/46 |
- |
1 |
16-2111671-C-T |
c.3496G>A |
p.G1166S |
Missense |
15/46 |
- |
7 |
16-2111672-G-A |
c.3495C>T |
p.D1165= |
Synonymous |
15/46 |
- |
1 |
16-2111673-T-G |
c.3494A>C |
p.D1165A |
Missense |
15/46 |
- |
1 |
16-2111674-C-A |
c.3493G>T |
p.D1165Y |
Missense |
15/46 |
- |
1 |
16-2111674-C-T |
c.3493G>A |
p.D1165N |
Missense |
15/46 |
- |
1 |
16-2111677-C-G |
c.3490G>C |
p.G1164R |
Missense |
15/46 |
- |
3 |
16-2111677-C-T |
c.3490G>A |
p.G1164R |
Missense |
15/46 |
- |
4 |
16-2111678-G-A |
c.3489C>T |
p.F1163= |
Synonymous |
15/46 |
- |
3 |
16-2111678-G-T |
c.3489C>A |
p.F1163L |
Missense |
15/46 |
- |
1 |
16-2111679-A-C |
c.3488T>G |
p.F1163C |
Missense |
15/46 |
- |
1 |
16-2111681-G-C |
c.3486C>G |
p.D1162E |
Missense |
15/46 |
- |
1 |
16-2111690-G-C |
c.3477C>G |
p.Y1159* |
Nonsense |
15/46 |
- |
1 |
16-2111690-G-T |
c.3477C>A |
p.Y1159* |
Nonsense |
15/46 |
- |
1 |
16-2111695-G-A |
c.3472C>T |
p.L1158F |
Missense |
15/46 |
- |
1 |
16-2111700-C-G |
c.3467G>C |
p.G1156A |
Missense |
15/46 |
- |
1 |
16-2111708-C-A |
c.3459G>T |
p.S1153= |
Synonymous |
15/46 |
- |
2 |
16-2111708-C-G |
c.3459G>C |
p.S1153= |
Synonymous |
15/46 |
- |
2 |
16-2111708-CG-AC |
c.3458_3459delinsGT |
p.S1153C |
Missense |
15/46 |
- |
1 |
16-2111708-C-T |
c.3459G>A |
p.S1153= |
Synonymous |
15/46 |
- |
2 |
16-2111712-G-A |
c.3455C>T |
p.P1152L |
Missense |
15/46 |
- |
1 |
16-2111712-G-T |
c.3455C>A |
p.P1152H |
Missense |
15/46 |
- |
1 |
16-2111713-G-A |
c.3454C>T |
p.P1152S |
Missense |
15/46 |
- |
1 |
16-2111717-C-A |
c.3450G>T |
p.P1150= |
Synonymous |
15/46 |
- |
1 |
16-2111717-C-G |
c.3450G>C |
p.P1150= |
Synonymous |
15/46 |
- |
1 |
16-2111717-C-T |
c.3450G>A |
p.P1150= |
Synonymous |
15/46 |
- |
2 |
16-2111718-G-A |
c.3449C>T |
p.P1150L |
Missense |
15/46 |
- |
2 |
16-2111720-G-A |
c.3447C>T |
p.H1149= |
Synonymous |
15/46 |
- |
1 |
16-2111721-T-C |
c.3446A>G |
p.H1149R |
Missense |
15/46 |
- |
1 |
16-2111723-C-A |
c.3444G>T |
p.P1148= |
Synonymous |
15/46 |
- |
2 |
16-2111723-C-G |
c.3444G>C |
p.P1148= |
Synonymous |
15/46 |
- |
2 |
16-2111723-C-T |
c.3444G>A |
p.P1148= |
Synonymous |
15/46 |
- |
3 |
16-2111725-G-A |
c.3442C>T |
p.P1148S |
Missense |
15/46 |
- |
2 |
16-2111729-AG-A |
c.3438del |
p.Y1147Tfs*24 |
Frameshift |
15/46 |
- |
1 |
16-2111732-GG-CA |
c.3434_3435delinsTG |
p.T1145M |
Missense |
15/46 |
- |
2 |
16-2111737-C-T |
c.3430G>A |
p.V1144I |
Missense |
15/46 |
- |
2 |
16-2111740-GC-G |
c.3426del |
p.V1144Sfs*27 |
Frameshift |
15/46 |
- |
1 |
16-2111742-C-A |
c.3425G>T |
p.R1142L |
Missense |
15/46 |
- |
2 |
16-2111743-G-A |
c.3424C>T |
p.R1142W |
Missense |
15/46 |
- |
2 |
16-2111746-C-A |
c.3421G>T |
p.G1141C |
Missense |
15/46 |
- |
1 |
16-2111747-G-A |
c.3420C>T |
p.A1140= |
Synonymous |
15/46 |
- |
1 |
16-2111747-G-C |
c.3420C>G |
p.A1140= |
Synonymous |
15/46 |
- |
1 |
16-2111747-G-T |
c.3420C>A |
p.A1140= |
Synonymous |
15/46 |
- |
1 |
16-2111748-G-A |
c.3419C>T |
p.A1140V |
Missense |
15/46 |
- |
1 |
16-2111749-C-G |
c.3418G>C |
p.A1140P |
Missense |
15/46 |
- |
1 |
16-2111749-CCA-C |
c.3416_3417del |
p.V1139Gfs*71 |
Frameshift |
15/46 |
- |
1 |
16-2111751-A-G |
c.3416T>C |
p.V1139A |
Missense |
15/46 |
- |
1 |
16-2111755-G-A |
c.3412C>T |
p.L1138= |
Synonymous |
15/46 |
- |
1 |
16-2111755-G-T |
c.3412C>A |
p.L1138M |
Missense |
15/46 |
- |
2 |
16-2111759-G-A |
c.3408C>T |
p.G1136= |
Synonymous |
15/46 |
- |
3 |
16-2111759-G-C |
c.3408C>G |
p.G1136= |
Synonymous |
15/46 |
- |
1 |
16-2111759-G-T |
c.3408C>A |
p.G1136= |
Synonymous |
15/46 |
- |
1 |
16-2111760-C-T |
c.3407G>A |
p.G1136D |
Missense |
15/46 |
- |
2 |
16-2111762-G-A |
c.3405C>T |
p.D1135= |
Synonymous |
15/46 |
- |
3 |
16-2111765-A-C |
c.3402T>G |
p.S1134R |
Missense |
15/46 |
- |
1 |
16-2111767-T-C |
c.3400A>G |
p.S1134G |
Missense |
15/46 |
- |
1 |
16-2111769-A-AC |
c.3397dup |
p.V1133Gfs*3 |
Frameshift |
15/46 |
- |
1 |
16-2111770-C-A |
c.3397G>T |
p.V1133L |
Missense |
15/46 |
- |
2 |
16-2111770-C-G |
c.3397G>C |
p.V1133L |
Missense |
15/46 |
- |
2 |
16-2111767-TCA-T |
c.3398_3399del |
p.V1133Efs*2 |
Frameshift |
15/46 |
- |
2 |
16-2111776-C-A |
c.3391G>T |
p.V1131L |
Missense |
15/46 |
- |
1 |
16-2111780-CAC-AAA |
c.3385_3387delinsTTT |
p.V1129F |
Missense |
15/46 |
- |
1 |
16-2111782-C-T |
c.3385G>A |
p.V1129M |
Missense |
15/46 |
- |
3 |
16-2111783-G-A |
c.3384C>T |
p.S1128= |
Synonymous |
15/46 |
- |
3 |
16-2111784-G-A |
c.3383C>T |
p.S1128F |
Missense |
15/46 |
- |
2 |
16-2111785-A-T |
c.3382T>A |
p.S1128T |
Missense |
15/46 |
- |
4 |
16-2111786-G-A |
c.3381C>T |
p.P1127= |
Synonymous |
15/46 |
- |
1 |
16-2111786-G-C |
c.3381C>G |
p.P1127= |
Synonymous |
15/46 |
- |
1 |
16-2111786-G-T |
c.3381C>A |
p.P1127= |
Synonymous |
15/46 |
- |
2 |
16-2111787-G-A |
c.3380C>T |
p.P1127L |
Missense |
15/46 |
- |
4 |
16-2111788-G-A |
c.3379C>T |
p.P1127S |
Missense |
15/46 |
- |
1 |
16-2111792-G-A |
c.3375C>T |
p.S1125= |
Synonymous |
15/46 |
- |
11 |
16-2111792-G-C |
c.3375C>G |
p.S1125= |
Synonymous |
15/46 |
- |
1 |
16-2111792-G-T |
c.3375C>A |
p.S1125= |
Synonymous |
15/46 |
- |
1 |
16-2111795-G-A |
c.3372C>T |
p.A1124= |
Synonymous |
15/46 |
- |
11 |
16-2111795-G-C |
c.3372C>G |
p.A1124= |
Synonymous |
15/46 |
- |
1 |
16-2111795-G-T |
c.3372C>A |
p.A1124= |
Synonymous |
15/46 |
- |
1 |
16-2111797-C-T |
c.3370G>A |
p.A1124T |
Missense |
15/46 |
- |
1 |
16-2111798-GCG-CCA |
c.3367_3369delinsTGG |
p.R1123W |
Missense |
15/46 |
- |
1 |
16-2111798-GC-TT |
c.3368_3369delinsAA |
p.R1123Q |
Missense |
15/46 |
- |
1 |
16-2111798-G-T |
c.3369C>A |
p.R1123= |
Synonymous |
15/46 |
- |
1 |
16-2111799-C-A |
c.3368G>T |
p.R1123L |
Missense |
15/46 |
- |
2 |
16-2111799-C-T |
c.3368G>A |
p.R1123H |
Missense |
15/46 |
- |
2 |
16-2111800-G-A |
c.3367C>T |
p.R1123C |
Missense |
15/46 |
- |
1 |
16-2111805-C-T |
c.3362G>A |
p.S1121N |
Missense |
15/46 |
- |
1 |
16-2111808-A-ACT |
c.3358_3359insAG |
p.V1120Efs*2 |
Frameshift |
15/46 |
- |
1 |
16-2111817-T-TG |
c.3349dup |
p.Q1117Pfs*19 |
Frameshift |
15/46 |
- |
1 |
16-2111818-G-A |
c.3349C>T |
p.Q1117* |
Nonsense |
15/46 |
- |
2 |
16-2111818-G-T |
c.3349C>A |
p.Q1117K |
Missense |
15/46 |
- |
1 |
16-2111821-G-A |
c.3346C>T |
p.Q1116* |
Nonsense |
15/46 |
- |
1 |
16-2111822-CGT-ACA |
c.3343_3345delinsTGT |
p.T1115C |
Missense |
15/46 |
- |
1 |
16-2111823-G-A |
c.3344C>T |
p.T1115M |
Missense |
15/46 |
- |
1 |
16-2111826-A-C |
c.3341T>G |
p.L1114R |
Missense |
15/46 |
- |
4 |
16-2111826-A-G |
c.3341T>C |
p.L1114P |
Missense |
15/46 |
- |
1 |
16-2111833-C-A |
c.3334G>T |
p.E1112* |
Nonsense |
15/46 |
- |
2 |
16-2111834-G-A |
c.3333C>T |
p.F1111= |
Synonymous |
15/46 |
- |
2 |
16-2111834-G-C |
c.3333C>G |
p.F1111L |
Missense |
15/46 |
- |
1 |
16-2111835-A-G |
c.3332T>C |
p.F1111S |
Missense |
15/46 |
- |
1 |
16-2111840-A-T |
c.3327T>A |
p.N1109K |
Missense |
15/46 |
- |
1 |
16-2111843-A-C |
c.3324T>G |
p.S1108= |
Synonymous |
15/46 |
- |
1 |
16-2111844-G-A |
c.3323C>T |
p.S1108F |
Missense |
15/46 |
- |
4 |
16-2111845-A-AT |
c.3321dup |
p.S1108Ifs*2 |
Frameshift |
15/46 |
- |
1 |
16-2111847-G-A |
c.3320C>T |
p.A1107V |
Missense |
15/46 |
- |
1 |
16-2111851-G-C |
c.3316C>G |
p.L1106V |
Missense |
15/46 |
- |
8 |
16-2111853-A-C |
c.3314T>G |
p.V1105G |
Missense |
15/46 |
- |
1 |
16-2111855-G-A |
c.3312C>T |
p.T1104= |
Synonymous |
15/46 |
- |
3 |
16-2111855-G-C |
c.3312C>G |
p.T1104= |
Synonymous |
15/46 |
- |
2 |
16-2111855-G-T |
c.3312C>A |
p.T1104= |
Synonymous |
15/46 |
- |
1 |
16-2111854-C-CG |
c.3312dup |
p.V1105Rfs*5 |
Frameshift |
15/46 |
- |
1 |
16-2111861-G-A |
c.3306C>T |
p.L1102= |
Synonymous |
15/46 |
- |
3 |
16-2111861-GAG-CAT |
c.3304_3306delinsATG |
p.L1102M |
Missense |
15/46 |
- |
1 |
16-2111863-G-C |
c.3304C>G |
p.L1102V |
Missense |
15/46 |
- |
2 |
16-2111863-G-T |
c.3304C>A |
p.L1102I |
Missense |
15/46 |
- |
1 |
16-2111865-T-TA |
c.3301dup |
p.Y1101Lfs*9 |
Frameshift |
15/46 |
- |
1 |
16-2111865-TACTC-T |
c.3298_3301del |
p.E1100Tfs*3 |
Frameshift |
15/46 |
- |
1 |
16-2111868-T-C |
c.3299A>G |
p.E1100G |
Missense |
15/46 |
- |
1 |
16-2111869-C-T |
c.3298G>A |
p.E1100K |
Missense |
15/46 |
- |
2 |
16-2111871-C-G |
c.3296G>C |
p.G1099A |
Missense |
15/46 |
- |
1 |
16-2111871-C-T |
c.3296G>A |
p.G1099D |
Missense |
15/46 |
- |
1 |
16-2111927-G-A |
c.3296-56C>T |
- |
IntronicSNV |
- |
14/45 |
2 |
16-2112138-G-A |
c.3295+202C>T |
- |
IntronicSNV |
- |
14/45 |
1 |
16-2112265-C-A |
c.3295+75G>T |
- |
IntronicSNV |
- |
14/45 |
1 |
16-2112336-T-C |
c.3295+4A>G |
- |
IntronicSNV |
- |
14/45 |
1 |
16-2112337-C-T |
c.3295+3G>A |
- |
IntronicSNV |
- |
14/45 |
1 |
16-2112338-A-G |
c.3295+2T>C |
- |
IntronicSNV |
- |
14/45 |
1 |
16-2112339-C-A |
c.3295+1G>T |
- |
IntronicSNV |
- |
14/45 |
1 |
16-2112345-GCAGCGTAGGTGTGCATGA-G |
c.3272_3289del |
p.V1091_A1096del |
InFrameDeletion |
14/46 |
- |
1 |
16-2112349-C-T |
c.3286G>A |
p.A1096T |
Missense |
14/46 |
- |
1 |
16-2112351-T-C |
c.3284A>G |
p.Y1095C |
Missense |
14/46 |
- |
1 |
16-2112354-G-A |
c.3281C>T |
p.T1094I |
Missense |
14/46 |
- |
1 |
16-2112358-G-A |
c.3277C>T |
p.H1093Y |
Missense |
14/46 |
- |
4 |
16-2112359-C-G |
c.3276G>C |
p.M1092I |
Missense |
14/46 |
- |
1 |
16-2112360-A-G |
c.3275T>C |
p.M1092T |
Missense |
14/46 |
- |
15 |
16-2112362-G-C |
c.3273C>G |
p.V1091= |
Synonymous |
14/46 |
- |
1 |
16-2112366-T-C |
c.3269A>G |
p.N1090S |
Missense |
14/46 |
- |
1 |
16-2112371-C-A |
c.3264G>T |
p.E1088D |
Missense |
14/46 |
- |
1 |
16-2112371-C-G |
c.3264G>C |
p.E1088D |
Missense |
14/46 |
- |
1 |
16-2112378-A-C |
c.3257T>G |
p.L1086R |
Missense |
14/46 |
- |
1 |
16-2112381-A-C |
c.3254T>G |
p.V1085G |
Missense |
14/46 |
- |
2 |
16-2112385-G-A |
c.3250C>T |
p.Q1084* |
Nonsense |
14/46 |
- |
1 |
16-2112387-G-A |
c.3248C>T |
p.A1083V |
Missense |
14/46 |
- |
1 |
16-2112390-A-G |
c.3245T>C |
p.V1082A |
Missense |
14/46 |
- |
1 |
16-2112395-G-A |
c.3240C>T |
p.P1080= |
Synonymous |
14/46 |
- |
1 |
16-2112397-G-A |
c.3238C>T |
p.P1080S |
Missense |
14/46 |
- |
1 |
16-2112394-AG-A |
c.3240del |
p.S1081Rfs*23 |
Frameshift |
14/46 |
- |
1 |
16-2112399-GT-G |
c.3236del |
p.D1079Afs*25 |
Frameshift |
14/46 |
- |
1 |
16-2112402-G-A |
c.3233C>T |
p.P1078L |
Missense |
14/46 |
- |
1 |
16-2112405-A-T |
c.3230T>A |
p.V1077D |
Missense |
14/46 |
- |
1 |
16-2112406-C-T |
c.3229G>A |
p.V1077I |
Missense |
14/46 |
- |
1 |
16-2112407-C-T |
c.3228G>A |
p.P1076= |
Synonymous |
14/46 |
- |
1 |
16-2112408-G-A |
c.3227C>T |
p.P1076L |
Missense |
14/46 |
- |
1 |
16-2112409-G-A |
c.3226C>T |
p.P1076S |
Missense |
14/46 |
- |
2 |
16-2112407-CG-C |
c.3227del |
p.P1076Rfs*28 |
Frameshift |
14/46 |
- |
1 |
16-2112410-G-GCC |
c.3224_3225insGG |
p.F1075Lfs*30 |
Frameshift |
14/46 |
- |
1 |
16-2112411-A-T |
c.3224T>A |
p.F1075Y |
Missense |
14/46 |
- |
1 |
16-2112414-GA-AG |
c.3220_3221delinsCT |
p.S1074L |
Missense |
14/46 |
- |
1 |
16-2112415-A-T |
c.3220T>A |
p.S1074T |
Missense |
14/46 |
- |
2 |
16-2112419-G-A |
c.3216C>T |
p.N1072= |
Synonymous |
14/46 |
- |
1 |
16-2112419-G-GT |
c.3215dup |
p.N1072Kfs*29 |
Frameshift |
14/46 |
- |
1 |
16-2112422-G-C |
c.3213C>G |
p.Y1071* |
Nonsense |
14/46 |
- |
1 |
16-2112426-G-T |
c.3209C>A |
p.P1070Q |
Missense |
14/46 |
- |
1 |
16-2112432-TG-T |
c.3202del |
p.Q1068Sfs*36 |
Frameshift |
14/46 |
- |
2 |
16-2112439-G-A |
c.3196C>T |
p.Q1066* |
Nonsense |
14/46 |
- |
2 |
16-2112441-T-G |
c.3194A>C |
p.H1065P |
Missense |
14/46 |
- |
1 |
16-2112442-G-T |
c.3193C>A |
p.H1065N |
Missense |
14/46 |
- |
1 |
16-2112447-G-A |
c.3188C>T |
p.A1063V |
Missense |
14/46 |
- |
2 |
16-2112451-G-A |
c.3184C>T |
p.Q1062* |
Nonsense |
14/46 |
- |
1 |
16-2112453-T-A |
c.3182A>T |
p.E1061V |
Missense |
14/46 |
- |
1 |
16-2112454-C-T |
c.3181G>A |
p.E1061K |
Missense |
14/46 |
- |
1 |
16-2112457-C-A |
c.3178G>T |
p.G1060W |
Missense |
14/46 |
- |
1 |
16-2112459-T-A |
c.3176A>T |
p.D1059V |
Missense |
14/46 |
- |
1 |
16-2112459-T-G |
c.3176A>C |
p.D1059A |
Missense |
14/46 |
- |
1 |
16-2112467-GG-CT |
c.3167_3168delinsAG |
p.T1056K |
Missense |
14/46 |
- |
1 |
16-2112472-A-C |
c.3163T>G |
p.W1055G |
Missense |
14/46 |
- |
1 |
16-2112762-C-T |
c.3161+26G>A |
- |
IntronicSNV |
- |
13/45 |
1 |
16-2112768-C-T |
c.3161+20G>A |
- |
IntronicSNV |
- |
13/45 |
1 |
16-2112783-C-T |
c.3161+5G>A |
- |
IntronicSNV |
- |
13/45 |
2 |
16-2112786-A-C |
c.3161+2T>G |
- |
IntronicSNV |
- |
13/45 |
1 |
16-2112789-G-A |
c.3160C>T |
p.L1054= |
Synonymous |
13/46 |
- |
3 |
16-2112793-G-C |
c.3156C>G |
p.A1052= |
Synonymous |
13/46 |
- |
1 |
16-2112792-AGGCCACCTCCAC-A |
c.3145_3156del |
p.V1049_A1052del |
InFrameDeletion |
13/46 |
- |
1 |
16-2112794-GCCACCTCCACGGCCGAGT-G |
c.3137_3154del |
p.D1046_V1051del |
InFrameDeletion |
13/46 |
- |
1 |
16-2112801-C-T |
c.3148G>A |
p.E1050K |
Missense |
13/46 |
- |
2 |
16-2112802-C-T |
c.3147G>A |
p.V1049= |
Synonymous |
13/46 |
- |
2 |
16-2112805-G-A |
c.3144C>T |
p.A1048= |
Synonymous |
13/46 |
- |
2 |
16-2112806-G-A |
c.3143C>T |
p.A1048V |
Missense |
13/46 |
- |
3 |
16-2112809-G-T |
c.3140C>A |
p.S1047* |
Nonsense |
13/46 |
- |
1 |
16-2112816-C-T |
c.3133G>A |
p.V1045M |
Missense |
13/46 |
- |
4 |
16-2112817-CA-AT |
c.3131_3132delinsAT |
p.L1044H |
Missense |
13/46 |
- |
1 |
16-2112817-C-T |
c.3132G>A |
p.L1044= |
Synonymous |
13/46 |
- |
2 |
16-2112819-G-A |
c.3130C>T |
p.L1044= |
Synonymous |
13/46 |
- |
2 |
16-2112822-C-T |
c.3127G>A |
p.V1043M |
Missense |
13/46 |
- |
1 |
16-2112827-G-A |
c.3122C>T |
p.A1041V |
Missense |
13/46 |
- |
1 |
16-2112831-T-A |
c.3118A>T |
p.T1040S |
Missense |
13/46 |
- |
1 |
16-2112831-T-G |
c.3118A>C |
p.T1040P |
Missense |
13/46 |
- |
1 |
16-2112835-T-C |
c.3114A>G |
p.A1038= |
Synonymous |
13/46 |
- |
1 |
16-2112837-C-A |
c.3112G>T |
p.A1038S |
Missense |
13/46 |
- |
2 |
16-2112837-C-T |
c.3112G>A |
p.A1038T |
Missense |
13/46 |
- |
1 |
16-2112838-T-A |
c.3111A>T |
p.L1037= |
Synonymous |
13/46 |
- |
1 |
16-2112838-T-C |
c.3111A>G |
p.L1037= |
Synonymous |
13/46 |
- |
8 |
16-2112838-T-G |
c.3111A>C |
p.L1037= |
Synonymous |
13/46 |
- |
1 |
16-2112839-A-G |
c.3110T>C |
p.L1037P |
Missense |
13/46 |
- |
1 |
16-2112840-G-A |
c.3109C>T |
p.L1037= |
Synonymous |
13/46 |
- |
2 |
16-2112841-C-A |
c.3108G>T |
p.T1036= |
Synonymous |
13/46 |
- |
1 |
16-2112841-C-G |
c.3108G>C |
p.T1036= |
Synonymous |
13/46 |
- |
1 |
16-2112841-C-T |
c.3108G>A |
p.T1036= |
Synonymous |
13/46 |
- |
1 |
16-2112843-TGGCATTGGGGGACAGCACGGCC-T |
c.3084_3105del |
p.A1029Rfs*2 |
Frameshift |
13/46 |
- |
1 |
16-2112848-T-A |
c.3101A>T |
p.N1034I |
Missense |
13/46 |
- |
1 |
16-2112848-T-C |
c.3101A>G |
p.N1034S |
Missense |
13/46 |
- |
2 |
16-2112849-T-C |
c.3100A>G |
p.N1034D |
Missense |
13/46 |
- |
1 |
16-2112850-G-A |
c.3099C>T |
p.P1033= |
Synonymous |
13/46 |
- |
1 |
16-2112852-G-A |
c.3097C>T |
p.P1033S |
Missense |
13/46 |
- |
1 |
16-2112849-TG-T |
c.3099del |
p.N1034Mfs*4 |
Frameshift |
13/46 |
- |
1 |
16-2112854-G-A |
c.3095C>T |
p.S1032F |
Missense |
13/46 |
- |
1 |
16-2112861-AC-A |
c.3088del |
p.V1030Cfs*8 |
Frameshift |
13/46 |
- |
2 |
16-2112862-G-A |
c.3087C>T |
p.A1029= |
Synonymous |
13/46 |
- |
1 |
16-2112862-G-C |
c.3087C>G |
p.A1029= |
Synonymous |
13/46 |
- |
1 |
16-2112862-G-T |
c.3087C>A |
p.A1029= |
Synonymous |
13/46 |
- |
1 |
16-2112863-G-A |
c.3086C>T |
p.A1029V |
Missense |
13/46 |
- |
1 |
16-2112863-GC-CG |
c.3085_3086delinsCG |
p.A1029R |
Missense |
13/46 |
- |
1 |
16-2112867-G-C |
c.3082C>G |
p.P1028A |
Missense |
13/46 |
- |
1 |
16-2112868-CAC-GAT |
c.3079_3081delinsATC |
p.V1027I |
Missense |
13/46 |
- |
1 |
16-2112872-G-A |
c.3077C>T |
p.T1026I |
Missense |
13/46 |
- |
1 |
16-2112875-G-A |
c.3074C>T |
p.S1025F |
Missense |
13/46 |
- |
4 |
16-2112875-GA-AG |
c.3073_3074delinsCT |
p.S1025L |
Missense |
13/46 |
- |
1 |
16-2112875-G-T |
c.3074C>A |
p.S1025Y |
Missense |
13/46 |
- |
1 |
16-2112878-A-G |
c.3071T>C |
p.V1024A |
Missense |
13/46 |
- |
1 |
16-2112879-C-T |
c.3070G>A |
p.V1024I |
Missense |
13/46 |
- |
3 |
16-2112880-C-G |
c.3069G>C |
p.Q1023H |
Missense |
13/46 |
- |
1 |
16-2112880-C-T |
c.3069G>A |
p.Q1023= |
Synonymous |
13/46 |
- |
1 |
16-2112881-CT-C |
c.3068del |
p.Q1023Rfs*15 |
Frameshift |
13/46 |
- |
1 |
16-2112881-T-A |
c.3068A>T |
p.Q1023L |
Missense |
13/46 |
- |
1 |
16-2112881-T-C |
c.3068A>G |
p.Q1023R |
Missense |
13/46 |
- |
2 |
16-2112881-T-G |
c.3068A>C |
p.Q1023P |
Missense |
13/46 |
- |
1 |
16-2112882-G-A |
c.3067C>T |
p.Q1023* |
Nonsense |
13/46 |
- |
4 |
16-2112884-A-C |
c.3065T>G |
p.L1022R |
Missense |
13/46 |
- |
1 |
16-2112885-G-A |
c.3064C>T |
p.L1022= |
Synonymous |
13/46 |
- |
3 |
16-2112885-G-C |
c.3064C>G |
p.L1022V |
Missense |
13/46 |
- |
1 |
16-2112886-A-G |
c.3063T>C |
p.G1021= |
Synonymous |
13/46 |
- |
11 |
16-2112886-A-T |
c.3063T>A |
p.G1021= |
Synonymous |
13/46 |
- |
1 |
16-2112890-T-A |
c.3059A>T |
p.Q1020L |
Missense |
13/46 |
- |
1 |
16-2112891-G-A |
c.3058C>T |
p.Q1020* |
Nonsense |
13/46 |
- |
2 |
16-2112891-G-C |
c.3058C>G |
p.Q1020E |
Missense |
13/46 |
- |
1 |
16-2112891-G-T |
c.3058C>A |
p.Q1020K |
Missense |
13/46 |
- |
3 |
16-2112894-T-A |
c.3055A>T |
p.M1019L |
Missense |
13/46 |
- |
1 |
16-2112895-CCT-ACA |
c.3052_3054delinsTGT |
p.R1018C |
Missense |
13/46 |
- |
1 |
16-2112896-C-T |
c.3053G>A |
p.R1018K |
Missense |
13/46 |
- |
1 |
16-2112899-T-G |
c.3050A>C |
p.N1017T |
Missense |
13/46 |
- |
1 |
16-2112904-CCG-ACA |
c.3043_3045delinsTGT |
p.R1015C |
Missense |
13/46 |
- |
1 |
16-2112906-G-A |
c.3043C>T |
p.R1015W |
Missense |
13/46 |
- |
1 |
16-2112912-C-T |
c.3037G>A |
p.V1013M |
Missense |
13/46 |
- |
1 |
16-2112913-G-A |
c.3036C>T |
p.T1012= |
Synonymous |
13/46 |
- |
2 |
16-2112913-G-C |
c.3036C>G |
p.T1012= |
Synonymous |
13/46 |
- |
2 |
16-2112913-G-T |
c.3036C>A |
p.T1012= |
Synonymous |
13/46 |
- |
2 |
16-2112914-G-A |
c.3035C>T |
p.T1012I |
Missense |
13/46 |
- |
1 |
16-2112916-T-G |
c.3033A>C |
p.V1011= |
Synonymous |
13/46 |
- |
3 |
16-2112918-C-A |
c.3031G>T |
p.V1011L |
Missense |
13/46 |
- |
1 |
16-2112918-C-G |
c.3031G>C |
p.V1011L |
Missense |
13/46 |
- |
1 |
16-2112918-C-T |
c.3031G>A |
p.V1011I |
Missense |
13/46 |
- |
4 |
16-2112925-G-GTA |
c.3023_3024insTA |
p.Y1009Tfs*4 |
Frameshift |
13/46 |
- |
1 |
16-2112930-C-T |
c.3019G>A |
p.V1007M |
Missense |
13/46 |
- |
1 |
16-2112932-G-A |
c.3017C>T |
p.T1006I |
Missense |
13/46 |
- |
1 |
16-2112935-A-G |
c.3014T>C |
p.V1005A |
Missense |
13/46 |
- |
1 |
16-2112936-C-T |
c.3013G>A |
p.V1005I |
Missense |
13/46 |
- |
4 |
16-2112937-CGTTG-C |
c.3009_3012del |
p.S1003Rfs*4 |
Frameshift |
13/46 |
- |
1 |
16-2112937-G-A |
c.3012C>T |
p.N1004= |
Synonymous |
13/46 |
- |
2 |
16-2112937-G-C |
c.3012C>G |
p.N1004K |
Missense |
13/46 |
- |
1 |
16-2112937-G-T |
c.3012C>A |
p.N1004K |
Missense |
13/46 |
- |
1 |
16-2112941-C-T |
c.3008G>A |
p.S1003N |
Missense |
13/46 |
- |
1 |
16-2112943-C-A |
c.3006G>T |
p.V1002= |
Synonymous |
13/46 |
- |
1 |
16-2112943-C-G |
c.3006G>C |
p.V1002= |
Synonymous |
13/46 |
- |
3 |
16-2112943-C-T |
c.3006G>A |
p.V1002= |
Synonymous |
13/46 |
- |
3 |
16-2112946-G-A |
c.3003C>T |
p.H1001= |
Synonymous |
13/46 |
- |
1 |
16-2112947-T-C |
c.3002A>G |
p.H1001R |
Missense |
13/46 |
- |
1 |
16-2112956-G-A |
c.2993C>T |
p.A998V |
Missense |
13/46 |
- |
2 |
16-2112959-G-A |
c.2990C>T |
p.T997M |
Missense |
13/46 |
- |
2 |
16-2112962-A-C |
c.2987T>G |
p.L996R |
Missense |
13/46 |
- |
1 |
16-2112962-A-G |
c.2987T>C |
p.L996P |
Missense |
13/46 |
- |
1 |
16-2112978-G-A |
c.2986-15C>T |
- |
IntronicSNV |
- |
12/45 |
5 |
16-2112978-G-T |
c.2986-15C>A |
- |
IntronicSNV |
- |
12/45 |
5 |
16-2113083-G-T |
c.2985+78C>A |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113086-G-A |
c.2985+75C>T |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113114-G-C |
c.2985+47C>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113118-T-C |
c.2985+43A>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113119-G-C |
c.2985+42C>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113124-G-C |
c.2985+37C>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113129-A-C |
c.2985+32T>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113130-T-C |
c.2985+31A>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113135-T-C |
c.2985+26A>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113140-T-C |
c.2985+21A>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113145-A-C |
c.2985+16T>G |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113156-C-T |
c.2985+5G>A |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113157-C-T |
c.2985+4G>A |
- |
IntronicSNV |
- |
12/45 |
1 |
16-2113164-G-C |
c.2982C>G |
p.L994= |
Synonymous |
12/46 |
- |
1 |
16-2113164-G-T |
c.2982C>A |
p.L994= |
Synonymous |
12/46 |
- |
1 |
16-2113166-G-A |
c.2980C>T |
p.L994F |
Missense |
12/46 |
- |
1 |
16-2113175-C-T |
c.2971G>A |
p.V991I |
Missense |
12/46 |
- |
1 |
16-2113178-C-T |
c.2968G>A |
p.A990T |
Missense |
12/46 |
- |
1 |
16-2113179-CG-GT |
c.2966_2967delinsAC |
p.A989D |
Missense |
12/46 |
- |
1 |
16-2113180-G-A |
c.2966C>T |
p.A989V |
Missense |
12/46 |
- |
1 |
16-2113181-C-T |
c.2965G>A |
p.A989T |
Missense |
12/46 |
- |
2 |
16-2113183-CT-AA |
c.2962_2963delinsTT |
p.S988F |
Missense |
12/46 |
- |
1 |
16-2113183-CT-GC |
c.2962_2963delinsGC |
p.S988A |
Missense |
12/46 |
- |
1 |
16-2113185-C-A |
c.2961G>T |
p.Q987H |
Missense |
12/46 |
- |
2 |
16-2113185-C-G |
c.2961G>C |
p.Q987H |
Missense |
12/46 |
- |
2 |
16-2113187-G-A |
c.2959C>T |
p.Q987* |
Nonsense |
12/46 |
- |
1 |
16-2113188-A-T |
c.2958T>A |
p.Y986* |
Nonsense |
12/46 |
- |
1 |
16-2113196-C-A |
c.2950G>T |
p.V984F |
Missense |
12/46 |
- |
1 |
16-2113203-G-A |
c.2943C>T |
p.V981= |
Synonymous |
12/46 |
- |
2 |
16-2113203-G-C |
c.2943C>G |
p.V981= |
Synonymous |
12/46 |
- |
1 |
16-2113203-G-T |
c.2943C>A |
p.V981= |
Synonymous |
12/46 |
- |
1 |
16-2113204-A-C |
c.2942T>G |
p.V981G |
Missense |
12/46 |
- |
1 |
16-2113206-CAC-GAT |
c.2938_2940delinsATC |
p.V980I |
Missense |
12/46 |
- |
1 |
16-2113213-T-C |
c.2933A>G |
p.Q978R |
Missense |
12/46 |
- |
1 |
16-2113214-G-A |
c.2932C>T |
p.Q978* |
Nonsense |
12/46 |
- |
1 |
16-2113218-G-A |
c.2928C>T |
p.T976= |
Synonymous |
12/46 |
- |
1 |
16-2113220-T-C |
c.2926A>G |
p.T976A |
Missense |
12/46 |
- |
3 |
16-2113230-C-T |
c.2916G>A |
p.K972= |
Synonymous |
12/46 |
- |
1 |
16-2113236-GT-G |
c.2909del |
p.N970Tfs*6 |
Frameshift |
12/46 |
- |
1 |
16-2113241-T-A |
c.2905A>T |
p.I969F |
Missense |
12/46 |
- |
1 |
16-2113247-A-C |
c.2899T>G |
p.W967G |
Missense |
12/46 |
- |
1 |
16-2113247-A-G |
c.2899T>C |
p.W967R |
Missense |
12/46 |
- |
4 |
16-2113247-A-T |
c.2899T>A |
p.W967R |
Missense |
12/46 |
- |
4 |
16-2113248-CCG-GCT |
c.2896_2898delinsAGC |
p.R966S |
Missense |
12/46 |
- |
1 |
16-2113249-C-G |
c.2897G>C |
p.R966P |
Missense |
12/46 |
- |
1 |
16-2113250-G-A |
c.2896C>T |
p.R966W |
Missense |
12/46 |
- |
2 |
16-2113251-GA-G |
c.2894del |
p.F965Sfs*11 |
Frameshift |
12/46 |
- |
1 |
16-2113254-G-A |
c.2892C>T |
p.V964= |
Synonymous |
12/46 |
- |
1 |
16-2113255-A-G |
c.2891T>C |
p.V964A |
Missense |
12/46 |
- |
1 |
16-2113256-C-G |
c.2890G>C |
p.V964L |
Missense |
12/46 |
- |
1 |
16-2113260-G-A |
c.2886C>T |
p.D962= |
Synonymous |
12/46 |
- |
1 |
16-2113262-C-A |
c.2884G>T |
p.D962Y |
Missense |
12/46 |
- |
1 |
16-2113261-TC-T |
c.2884del |
p.D962Tfs*14 |
Frameshift |
12/46 |
- |
2 |
16-2113263-C-A |
c.2883G>T |
p.S961= |
Synonymous |
12/46 |
- |
1 |
16-2113264-GA-CT |
c.2881_2882delinsAG |
p.S961R |
Missense |
12/46 |
- |
1 |
16-2113264-G-T |
c.2882C>A |
p.S961* |
Nonsense |
12/46 |
- |
3 |
16-2113266-G-A |
c.2880C>T |
p.G960= |
Synonymous |
12/46 |
- |
2 |
16-2113267-C-A |
c.2879G>T |
p.G960V |
Missense |
12/46 |
- |
1 |
16-2113267-C-T |
c.2879G>A |
p.G960D |
Missense |
12/46 |
- |
1 |
16-2113268-C-T |
c.2878G>A |
p.G960S |
Missense |
12/46 |
- |
2 |
16-2113269-G-A |
c.2877C>T |
p.A959= |
Synonymous |
12/46 |
- |
1 |
16-2113276-A-G |
c.2870T>C |
p.V957A |
Missense |
12/46 |
- |
1 |
16-2113277-C-A |
c.2869G>T |
p.V957L |
Missense |
12/46 |
- |
1 |
16-2113277-C-G |
c.2869G>C |
p.V957L |
Missense |
12/46 |
- |
1 |
16-2113277-C-T |
c.2869G>A |
p.V957M |
Missense |
12/46 |
- |
1 |
16-2113280-C-T |
c.2866G>A |
p.V956M |
Missense |
12/46 |
- |
4 |
16-2113281-G-A |
c.2865C>T |
p.P955= |
Synonymous |
12/46 |
- |
1 |
16-2113282-G-A |
c.2864C>T |
p.P955L |
Missense |
12/46 |
- |
3 |
16-2113283-G-A |
c.2863C>T |
p.P955S |
Missense |
12/46 |
- |
1 |
16-2113280-CG-C |
c.2865del |
p.V956Wfs*20 |
Frameshift |
12/46 |
- |
1 |
16-2113287-G-A |
c.2859C>T |
p.Y953= |
Synonymous |
12/46 |
- |
1 |
16-2113291-CT-TA |
c.2854_2855delinsTA |
p.R952* |
Nonsense |
12/46 |
- |
1 |
16-2113291-CT-TG |
c.2854_2855delinsCA |
p.R952Q |
Missense |
12/46 |
- |
1 |
16-2113297-G-A |
c.2854-5C>T |
- |
IntronicSNV |
- |
11/45 |
2 |
16-2113297-G-C |
c.2854-5C>G |
- |
IntronicSNV |
- |
11/45 |
2 |
16-2113316-T-A |
c.2854-24A>T |
- |
IntronicSNV |
- |
11/45 |
1 |
16-2113316-T-C |
c.2854-24A>G |
- |
IntronicSNV |
- |
11/45 |
1 |
16-2113578-G-C |
c.2854-286C>G |
- |
IntronicSNV |
- |
11/45 |
1 |
16-2113860-C-T |
c.2853+310G>A |
- |
IntronicSNV |
- |
11/45 |
1 |
16-2114019-G-A |
c.2853+151C>T |
- |
IntronicSNV |
- |
11/45 |
1 |
16-2114157-C-T |
c.2853+13G>A |
- |
IntronicSNV |
- |
11/45 |
1 |
16-2114168-A-G |
c.2853+2T>C |
- |
IntronicSNV |
- |
11/45 |
1 |
16-2114169-C-T |
c.2853+1G>A |
- |
IntronicSNV |
- |
11/45 |
1 |
16-2114170-C-T |
c.2853G>A |
p.V951= |
Synonymous |
11/46 |
- |
1 |
16-2114171-A-G |
c.2852T>C |
p.V951A |
Missense |
11/46 |
- |
1 |
16-2114173-TAG-AAA |
c.2848_2850delinsTTT |
p.L950F |
Missense |
11/46 |
- |
1 |
16-2114174-A-G |
c.2849T>C |
p.L950P |
Missense |
11/46 |
- |
4 |
16-2114179-T-A |
c.2844A>T |
p.G948= |
Synonymous |
11/46 |
- |
1 |
16-2114179-T-C |
c.2844A>G |
p.G948= |
Synonymous |
11/46 |
- |
1 |
16-2114179-T-G |
c.2844A>C |
p.G948= |
Synonymous |
11/46 |
- |
1 |
16-2114180-C-A |
c.2843G>T |
p.G948V |
Missense |
11/46 |
- |
2 |
16-2114180-C-T |
c.2843G>A |
p.G948E |
Missense |
11/46 |
- |
1 |
16-2114181-C-G |
c.2842G>C |
p.G948R |
Missense |
11/46 |
- |
1 |
16-2114181-C-T |
c.2842G>A |
p.G948R |
Missense |
11/46 |
- |
3 |
16-2114182-C-G |
c.2841G>C |
p.Q947H |
Missense |
11/46 |
- |
1 |
16-2114182-C-T |
c.2841G>A |
p.Q947= |
Synonymous |
11/46 |
- |
1 |
16-2114185-C-G |
c.2838G>C |
p.L946= |
Synonymous |
11/46 |
- |
1 |
16-2114185-C-T |
c.2838G>A |
p.L946= |
Synonymous |
11/46 |
- |
1 |
16-2114188-T-G |
c.2835A>C |
p.V945= |
Synonymous |
11/46 |
- |
1 |
16-2114189-A-G |
c.2834T>C |
p.V945A |
Missense |
11/46 |
- |
1 |
16-2114188-TAC-T |
c.2833_2834del |
p.V945Tfs*155 |
Frameshift |
11/46 |
- |
1 |
16-2114192-C-T |
c.2831G>A |
p.R944H |
Missense |
11/46 |
- |
1 |
16-2114193-G-A |
c.2830C>T |
p.R944C |
Missense |
11/46 |
- |
5 |
16-2114196-C-A |
c.2827G>T |
p.A943S |
Missense |
11/46 |
- |
1 |
16-2114198-T-A |
c.2825A>T |
p.E942V |
Missense |
11/46 |
- |
2 |
16-2114196-CCTCGGGG-C |
c.2820_2826del |
p.S940Rfs*9 |
Frameshift |
11/46 |
- |
1 |
16-2114199-C-T |
c.2824G>A |
p.E942K |
Missense |
11/46 |
- |
1 |
16-2114200-G-A |
c.2823C>T |
p.P941= |
Synonymous |
11/46 |
- |
2 |
16-2114200-G-C |
c.2823C>G |
p.P941= |
Synonymous |
11/46 |
- |
1 |
16-2114200-G-T |
c.2823C>A |
p.P941= |
Synonymous |
11/46 |
- |
1 |
16-2114202-G-A |
c.2821C>T |
p.P941S |
Missense |
11/46 |
- |
2 |
16-2114199-CG-C |
c.2823del |
p.E942Rfs*9 |
Frameshift |
11/46 |
- |
1 |
16-2114209-C-A |
c.2814G>T |
p.T938= |
Synonymous |
11/46 |
- |
1 |
16-2114209-CG-GT |
c.2813_2814delinsAC |
p.T938N |
Missense |
11/46 |
- |
1 |
16-2114210-G-A |
c.2813C>T |
p.T938M |
Missense |
11/46 |
- |
19 |
16-2114213-G-A |
c.2810C>T |
p.A937V |
Missense |
11/46 |
- |
1 |
16-2114215-GCG-CCA |
c.2806_2808delinsTGG |
p.R936W |
Missense |
11/46 |
- |
1 |
16-2114215-GCG-CTT |
c.2806_2808delinsAAG |
p.R936K |
Missense |
11/46 |
- |
1 |
16-2114215-GC-TT |
c.2807_2808delinsAA |
p.R936Q |
Missense |
11/46 |
- |
1 |
16-2114216-C-T |
c.2807G>A |
p.R936H |
Missense |
11/46 |
- |
3 |
16-2114217-G-A |
c.2806C>T |
p.R936C |
Missense |
11/46 |
- |
1 |
16-2114219-A-C |
c.2804T>G |
p.L935R |
Missense |
11/46 |
- |
1 |
16-2114220-G-A |
c.2803C>T |
p.L935F |
Missense |
11/46 |
- |
1 |
16-2114220-G-T |
c.2803C>A |
p.L935I |
Missense |
11/46 |
- |
1 |
16-2114225-C-A |
c.2798G>T |
p.C933F |
Missense |
11/46 |
- |
1 |
16-2114225-C-T |
c.2798G>A |
p.C933Y |
Missense |
11/46 |
- |
1 |
16-2114229-T-C |
c.2794A>G |
p.I932V |
Missense |
11/46 |
- |
4 |
16-2114230-G-T |
c.2793C>A |
p.P931= |
Synonymous |
11/46 |
- |
1 |
16-2114232-G-A |
c.2791C>T |
p.P931S |
Missense |
11/46 |
- |
1 |
16-2114235-C-A |
c.2788G>T |
p.E930* |
Nonsense |
11/46 |
- |
3 |
16-2114236-C-T |
c.2787G>A |
p.E929= |
Synonymous |
11/46 |
- |
2 |
16-2114240-G-A |
c.2783C>T |
p.A928V |
Missense |
11/46 |
- |
3 |
16-2114241-C-T |
c.2782G>A |
p.A928T |
Missense |
11/46 |
- |
1 |
16-2114242-C-T |
c.2781G>A |
p.T927= |
Synonymous |
11/46 |
- |
1 |
16-2114243-G-A |
c.2780C>T |
p.T927M |
Missense |
11/46 |
- |
4 |
16-2114244-T-C |
c.2779A>G |
p.T927A |
Missense |
11/46 |
- |
1 |
16-2114244-T-G |
c.2779A>C |
p.T927P |
Missense |
11/46 |
- |
1 |
16-2114248-C-A |
c.2775G>T |
p.R925= |
Synonymous |
11/46 |
- |
2 |
16-2114249-CG-TT |
c.2773_2774delinsAA |
p.R925K |
Missense |
11/46 |
- |
1 |
16-2114249-C-T |
c.2774G>A |
p.R925Q |
Missense |
11/46 |
- |
2 |
16-2114248-C-G |
c.2775G>C |
p.R925= |
Synonymous |
11/46 |
- |
1 |
16-2114248-C-T |
c.2775G>A |
p.R925= |
Synonymous |
11/46 |
- |
1 |
16-2114250-G-A |
c.2773C>T |
p.R925W |
Missense |
11/46 |
- |
1 |
16-2114250-G-T |
c.2773C>A |
p.R925= |
Synonymous |
11/46 |
- |
1 |
16-2114251-C-A |
c.2772G>T |
p.L924= |
Synonymous |
11/46 |
- |
1 |
16-2114251-CA-AT |
c.2771_2772delinsAT |
p.L924H |
Missense |
11/46 |
- |
1 |
16-2114251-CAG-AAA |
c.2770_2772delinsTTT |
p.L924F |
Missense |
11/46 |
- |
1 |
16-2114251-C-G |
c.2772G>C |
p.L924= |
Synonymous |
11/46 |
- |
1 |
16-2114251-C-T |
c.2772G>A |
p.L924= |
Synonymous |
11/46 |
- |
1 |
16-2114253-G-A |
c.2770C>T |
p.L924= |
Synonymous |
11/46 |
- |
1 |
16-2114252-A-G |
c.2771T>C |
p.L924P |
Missense |
11/46 |
- |
1 |
16-2114255-CT-AG |
c.2767_2768inv |
p.S923L |
Missense |
11/46 |
- |
1 |
16-2114257-G-A |
c.2766C>T |
p.L922= |
Synonymous |
11/46 |
- |
2 |
16-2114257-G-AA |
c.2766delinsTT |
p.S923* |
Frameshift |
11/46 |
- |
1 |
16-2114257-G-C |
c.2766C>G |
p.L922= |
Synonymous |
11/46 |
- |
1 |
16-2114257-G-T |
c.2766C>A |
p.L922= |
Synonymous |
11/46 |
- |
1 |
16-2114258-A-C |
c.2765T>G |
p.L922R |
Missense |
11/46 |
- |
1 |
16-2114259-G-T |
c.2764C>A |
p.L922I |
Missense |
11/46 |
- |
2 |
16-2114264-G-A |
c.2759C>T |
p.A920V |
Missense |
11/46 |
- |
1 |
16-2114264-G-C |
c.2759C>G |
p.A920G |
Missense |
11/46 |
- |
2 |
16-2114265-C-T |
c.2758G>A |
p.A920T |
Missense |
11/46 |
- |
1 |
16-2114266-CCG-ACA |
c.2755_2757delinsTGT |
p.R919C |
Missense |
11/46 |
- |
1 |
16-2114270-C-A |
c.2753G>T |
p.S918I |
Missense |
11/46 |
- |
1 |
16-2114272-G-A |
c.2751C>T |
p.A917= |
Synonymous |
11/46 |
- |
3 |
16-2114272-G-C |
c.2751C>G |
p.A917= |
Synonymous |
11/46 |
- |
4 |
16-2114272-G-T |
c.2751C>A |
p.A917= |
Synonymous |
11/46 |
- |
3 |
16-2114274-C-T |
c.2749G>A |
p.A917T |
Missense |
11/46 |
- |
1 |
16-2114275-GCT-CTC |
c.2746_2748delinsGAG |
p.S916E |
Missense |
11/46 |
- |
2 |
16-2114276-CT-AG |
c.2746_2747inv |
p.S916L |
Missense |
11/46 |
- |
1 |
16-2114276-CT-GC |
c.2746_2747delinsGC |
p.S916A |
Missense |
11/46 |
- |
8 |
16-2114276-CT-GG |
c.2746_2747delinsCC |
p.S916P |
Missense |
11/46 |
- |
1 |
16-2114278-G-C |
c.2745C>G |
p.N915K |
Missense |
11/46 |
- |
2 |
16-2114278-G-T |
c.2745C>A |
p.N915K |
Missense |
11/46 |
- |
1 |
16-2114283-C-A |
c.2740G>T |
p.E914* |
Nonsense |
11/46 |
- |
1 |
16-2114287-C-A |
c.2736G>T |
p.V912= |
Synonymous |
11/46 |
- |
1 |
16-2114288-A-T |
c.2735T>A |
p.V912E |
Missense |
11/46 |
- |
1 |
16-2114289-C-A |
c.2734G>T |
p.V912L |
Missense |
11/46 |
- |
1 |
16-2114289-C-T |
c.2734G>A |
p.V912M |
Missense |
11/46 |
- |
1 |
16-2114290-C-A |
c.2733G>T |
p.V911= |
Synonymous |
11/46 |
- |
1 |
16-2114291-A-T |
c.2732T>A |
p.V911E |
Missense |
11/46 |
- |
1 |
16-2114292-C-T |
c.2731G>A |
p.V911M |
Missense |
11/46 |
- |
3 |
16-2114293-G-A |
c.2730C>T |
p.D910= |
Synonymous |
11/46 |
- |
12 |
16-2114285-ACCACCACGT-A |
c.2729_2737del |
p.D910_V912del |
InFrameDeletion |
11/46 |
- |
1 |
16-2114295-C-A |
c.2728G>T |
p.D910Y |
Missense |
11/46 |
- |
1 |
16-2114296-C-CG |
c.2726_2727insC |
p.D910Gfs*191 |
Frameshift |
11/46 |
- |
1 |
16-2114301-C-A |
c.2722G>T |
p.V908L |
Missense |
11/46 |
- |
1 |
16-2114301-C-T |
c.2722G>A |
p.V908M |
Missense |
11/46 |
- |
7 |
16-2114302-G-A |
c.2721C>T |
p.H907= |
Synonymous |
11/46 |
- |
4 |
16-2114305-C-A |
c.2718G>T |
p.E906D |
Missense |
11/46 |
- |
5 |
16-2114305-C-G |
c.2718G>C |
p.E906D |
Missense |
11/46 |
- |
4 |
16-2114305-C-T |
c.2718G>A |
p.E906= |
Synonymous |
11/46 |
- |
1 |
16-2114307-C-T |
c.2716G>A |
p.E906K |
Missense |
11/46 |
- |
1 |
16-2114308-C-A |
c.2715G>T |
p.G905= |
Synonymous |
11/46 |
- |
1 |
16-2114308-CCC-GCT |
c.2713_2715delinsAGC |
p.G905S |
Missense |
11/46 |
- |
1 |
16-2114308-C-G |
c.2715G>C |
p.G905= |
Synonymous |
11/46 |
- |
1 |
16-2114308-C-T |
c.2715G>A |
p.G905= |
Synonymous |
11/46 |
- |
1 |
16-2114307-CCCCCT-C |
c.2711_2715del |
p.E904Gfs*195 |
Frameshift |
11/46 |
- |
1 |
16-2114310-C-G |
c.2713G>C |
p.G905R |
Missense |
11/46 |
- |
1 |
16-2114310-C-T |
c.2713G>A |
p.G905R |
Missense |
11/46 |
- |
1 |
16-2114306-TC-T |
c.2716del |
p.E906Sfs*21 |
Frameshift |
11/46 |
- |
1 |
16-2114306-T-TC |
c.2716dup |
p.E906Gfs*195 |
Frameshift |
11/46 |
- |
1 |
16-2114310-CCT-C |
c.2711_2712del |
p.E904Gfs*196 |
Frameshift |
11/46 |
- |
1 |
16-2114314-A-C |
c.2709T>G |
p.S903R |
Missense |
11/46 |
- |
1 |
16-2114315-CT-AG |
c.2707_2708inv |
p.S903L |
Missense |
11/46 |
- |
1 |
16-2114319-G-A |
c.2704C>T |
p.L902F |
Missense |
11/46 |
- |
1 |
16-2114320-C-T |
c.2703G>A |
p.W901* |
Nonsense |
11/46 |
- |
1 |
16-2114321-C-T |
c.2702G>A |
p.W901* |
Nonsense |
11/46 |
- |
1 |
16-2114323-C-T |
c.2700G>A |
p.P900= |
Synonymous |
11/46 |
- |
11 |
16-2114324-G-A |
c.2699C>T |
p.P900L |
Missense |
11/46 |
- |
1 |
16-2114325-G-A |
c.2698C>T |
p.P900S |
Missense |
11/46 |
- |
1 |
16-2114325-G-T |
c.2698C>A |
p.P900T |
Missense |
11/46 |
- |
1 |
16-2114328-G-C |
c.2695C>G |
p.L899V |
Missense |
11/46 |
- |
2 |
16-2114329-T-A |
c.2694A>T |
p.A898= |
Synonymous |
11/46 |
- |
1 |
16-2114329-T-C |
c.2694A>G |
p.A898= |
Synonymous |
11/46 |
- |
2 |
16-2114329-T-G |
c.2694A>C |
p.A898= |
Synonymous |
11/46 |
- |
4 |
16-2114330-G-A |
c.2693C>T |
p.A898V |
Missense |
11/46 |
- |
1 |
16-2114332-TACCACTGAGA-T |
c.2681_2690del |
p.F894* |
Frameshift |
11/46 |
- |
1 |
16-2114336-A-G |
c.2687T>C |
p.V896A |
Missense |
11/46 |
- |
1 |
16-2114338-TG-AC |
c.2684_2685delinsGT |
p.S895C |
Missense |
11/46 |
- |
1 |
16-2114339-G-A |
c.2684C>T |
p.S895L |
Missense |
11/46 |
- |
1 |
16-2114344-C-A |
c.2679G>T |
p.L893= |
Synonymous |
11/46 |
- |
1 |
16-2114344-C-G |
c.2679G>C |
p.L893= |
Synonymous |
11/46 |
- |
1 |
16-2114344-C-T |
c.2679G>A |
p.L893= |
Synonymous |
11/46 |
- |
1 |
16-2114346-G-A |
c.2677C>T |
p.L893= |
Synonymous |
11/46 |
- |
1 |
16-2114345-CAG-C |
c.2677_2678del |
p.L893Vfs*11 |
Frameshift |
11/46 |
- |
1 |
16-2114347-G-A |
c.2676C>T |
p.T892= |
Synonymous |
11/46 |
- |
1 |
16-2114348-G-A |
c.2675C>T |
p.T892I |
Missense |
11/46 |
- |
1 |
16-2114348-G-GT |
c.2674dup |
p.T892Nfs*13 |
Frameshift |
11/46 |
- |
1 |
16-2114352-C-T |
c.2671G>A |
p.D891N |
Missense |
11/46 |
- |
1 |
16-2114353-G-A |
c.2670C>T |
p.N890= |
Synonymous |
11/46 |
- |
2 |
16-2114354-T-G |
c.2669A>C |
p.N890T |
Missense |
11/46 |
- |
1 |
16-2114357-G-A |
c.2666C>T |
p.T889I |
Missense |
11/46 |
- |
1 |
16-2114362-C-T |
c.2661G>A |
p.W887* |
Nonsense |
11/46 |
- |
2 |
16-2114364-CA-C |
c.2659del |
p.W887Gfs*11 |
Frameshift |
11/46 |
- |
3 |
16-2114366-G-A |
c.2657C>T |
p.P886L |
Missense |
11/46 |
- |
1 |
16-2114366-G-C |
c.2657C>G |
p.P886R |
Missense |
11/46 |
- |
2 |
16-2114367-G-A |
c.2656C>T |
p.P886S |
Missense |
11/46 |
- |
1 |
16-2114367-G-C |
c.2656C>G |
p.P886A |
Missense |
11/46 |
- |
1 |
16-2114369-C-T |
c.2654G>A |
p.C885Y |
Missense |
11/46 |
- |
1 |
16-2114372-C-A |
c.2651G>T |
p.G884V |
Missense |
11/46 |
- |
1 |
16-2114374-CGGGCACGAAGG-C |
c.2639_2649del |
p.T880Rfs*21 |
Frameshift |
11/46 |
- |
2 |
16-2114374-G-A |
c.2649C>T |
p.P883= |
Synonymous |
11/46 |
- |
1 |
16-2114374-G-T |
c.2649C>A |
p.P883= |
Synonymous |
11/46 |
- |
1 |
16-2114377-C-A |
c.2646G>T |
p.V882= |
Synonymous |
11/46 |
- |
1 |
16-2114379-C-A |
c.2644G>T |
p.V882L |
Missense |
11/46 |
- |
1 |
16-2114379-C-T |
c.2644G>A |
p.V882M |
Missense |
11/46 |
- |
3 |
16-2114380-G-A |
c.2643C>T |
p.F881= |
Synonymous |
11/46 |
- |
2 |
16-2114380-G-C |
c.2643C>G |
p.F881L |
Missense |
11/46 |
- |
1 |
16-2114383-G-A |
c.2640C>T |
p.T880= |
Synonymous |
11/46 |
- |
1 |
16-2114383-G-T |
c.2640C>A |
p.T880= |
Synonymous |
11/46 |
- |
1 |
16-2114384-GT-CA |
c.2638_2639delinsTG |
p.T880C |
Missense |
11/46 |
- |
1 |
16-2114387-G-C |
c.2636C>G |
p.A879G |
Missense |
11/46 |
- |
1 |
16-2114391-C-A |
c.2632G>T |
p.V878L |
Missense |
11/46 |
- |
1 |
16-2114391-C-G |
c.2632G>C |
p.V878L |
Missense |
11/46 |
- |
1 |
16-2114392-C-CCAGGG |
c.2630_2631insCCCTG |
p.V878Pfs*22 |
Frameshift |
11/46 |
- |
1 |
16-2114393-A-ATT |
c.2629_2630insAA |
p.L877Qfs*22 |
Frameshift |
11/46 |
- |
1 |
16-2114393-A-T |
c.2630T>A |
p.L877Q |
Missense |
11/46 |
- |
1 |
16-2114396-G-A |
c.2627C>T |
p.A876V |
Missense |
11/46 |
- |
2 |
16-2114391-CCAGGG-C |
c.2627_2631del |
p.A876Gfs*27 |
Frameshift |
11/46 |
- |
1 |
16-2114403-A-AG |
c.2619dup |
p.C874Lfs*31 |
Frameshift |
11/46 |
- |
1 |
16-2114405-A-G |
c.2618T>C |
p.V873A |
Missense |
11/46 |
- |
1 |
16-2114406-C-T |
c.2617G>A |
p.V873I |
Missense |
11/46 |
- |
2 |
16-2114412-C-A |
c.2611G>T |
p.E871* |
Nonsense |
11/46 |
- |
4 |
16-2114412-C-T |
c.2611G>A |
p.E871K |
Missense |
11/46 |
- |
1 |
16-2114413-A-C |
c.2610T>G |
p.F870L |
Missense |
11/46 |
- |
1 |
16-2114413-A-T |
c.2610T>A |
p.F870L |
Missense |
11/46 |
- |
1 |
16-2114415-A-G |
c.2608T>C |
p.F870L |
Missense |
11/46 |
- |
1 |
16-2114416-G-T |
c.2607C>A |
p.R869= |
Synonymous |
11/46 |
- |
1 |
16-2114417-C-G |
c.2606G>C |
p.R869P |
Missense |
11/46 |
- |
1 |
16-2114417-C-T |
c.2606G>A |
p.R869H |
Missense |
11/46 |
- |
1 |
16-2114418-G-A |
c.2605C>T |
p.R869C |
Missense |
11/46 |
- |
1 |
16-2114417-CG-C |
c.2605del |
p.R869Afs*29 |
Frameshift |
11/46 |
- |
1 |
16-2114420-G-A |
c.2603C>T |
p.A868V |
Missense |
11/46 |
- |
2 |
16-2114421-C-T |
c.2602G>A |
p.A868T |
Missense |
11/46 |
- |
1 |
16-2114423-C-G |
c.2600G>C |
p.S867T |
Missense |
11/46 |
- |
1 |
16-2114424-T-C |
c.2599A>G |
p.S867G |
Missense |
11/46 |
- |
1 |
16-2114425-GAC-CAT |
c.2596_2598delinsATG |
p.V866M |
Missense |
11/46 |
- |
1 |
16-2114427-C-G |
c.2596G>C |
p.V866L |
Missense |
11/46 |
- |
1 |
16-2114430-T-G |
c.2593A>C |
p.S865R |
Missense |
11/46 |
- |
1 |
16-2114431-G-A |
c.2592C>T |
p.G864= |
Synonymous |
11/46 |
- |
1 |
16-2114433-C-T |
c.2590G>A |
p.G864S |
Missense |
11/46 |
- |
1 |
16-2114434-C-T |
c.2589G>A |
p.G863= |
Synonymous |
11/46 |
- |
1 |
16-2114436-C-A |
c.2587G>T |
p.G863W |
Missense |
11/46 |
- |
1 |
16-2114439-G-A |
c.2584C>T |
p.P862S |
Missense |
11/46 |
- |
1 |
16-2114441-C-T |
c.2582G>A |
p.W861* |
Nonsense |
11/46 |
- |
2 |
16-2114444-CG-AT |
c.2578_2579delinsAT |
p.R860I |
Missense |
11/46 |
- |
1 |
16-2114444-C-T |
c.2579G>A |
p.R860H |
Missense |
11/46 |
- |
2 |
16-2114445-G-A |
c.2578C>T |
p.R860C |
Missense |
11/46 |
- |
3 |
16-2114445-G-GTGCTGT |
c.2577_2578insACAGCA |
p.T858_A859dup |
InFrameInsertion |
11/46 |
- |
1 |
16-2114450-G-A |
c.2573C>T |
p.T858M |
Missense |
11/46 |
- |
3 |
16-2114453-G-T |
c.2570C>A |
p.A857D |
Missense |
11/46 |
- |
1 |
16-2114454-C-T |
c.2569G>A |
p.A857T |
Missense |
11/46 |
- |
1 |
16-2114459-G-A |
c.2564C>T |
p.A855V |
Missense |
11/46 |
- |
2 |
16-2114460-C-T |
c.2563G>A |
p.A855T |
Missense |
11/46 |
- |
1 |
16-2114461-G-A |
c.2562C>T |
p.N854= |
Synonymous |
11/46 |
- |
1 |
16-2114464-G-A |
c.2559C>T |
p.A853= |
Synonymous |
11/46 |
- |
3 |
16-2114464-G-C |
c.2559C>G |
p.A853= |
Synonymous |
11/46 |
- |
2 |
16-2114464-G-T |
c.2559C>A |
p.A853= |
Synonymous |
11/46 |
- |
2 |
16-2114465-G-A |
c.2558C>T |
p.A853V |
Missense |
11/46 |
- |
1 |
16-2114468-C-A |
c.2555G>T |
p.G852V |
Missense |
11/46 |
- |
1 |
16-2114465-GCACCAGAGTC-G |
c.2548_2557del |
p.D850Pfs*45 |
Frameshift |
11/46 |
- |
1 |
16-2114469-CAG-C |
c.2552_2553del |
p.S851Wfs*20 |
Frameshift |
11/46 |
- |
1 |
16-2114472-A-G |
c.2551T>C |
p.S851P |
Missense |
11/46 |
- |
1 |
16-2114473-G-A |
c.2550C>T |
p.D850= |
Synonymous |
11/46 |
- |
1 |
16-2114476-C-T |
c.2547G>A |
p.V849= |
Synonymous |
11/46 |
- |
1 |
16-2114477-A-G |
c.2546T>C |
p.V849A |
Missense |
11/46 |
- |
1 |
16-2114481-G-A |
c.2542C>T |
p.Q848* |
Nonsense |
11/46 |
- |
1 |
16-2114483-A-G |
c.2540T>C |
p.L847P |
Missense |
11/46 |
- |
1 |
16-2114486-AC-GG |
c.2536_2537delinsCC |
p.V846P |
Missense |
11/46 |
- |
1 |
16-2114489-A-G |
c.2534T>C |
p.L845S |
Missense |
11/46 |
- |
12 |
16-2114489-A-T |
c.2534T>A |
p.L845* |
Nonsense |
11/46 |
- |
1 |
16-2114490-A-C |
c.2533T>G |
p.L845V |
Missense |
11/46 |
- |
1 |
16-2114491-G-A |
c.2532C>T |
p.A844= |
Synonymous |
11/46 |
- |
1 |
16-2114492-G-A |
c.2531C>T |
p.A844V |
Missense |
11/46 |
- |
1 |
16-2114496-A-G |
c.2527T>C |
p.S843P |
Missense |
11/46 |
- |
3 |
16-2114498-C-T |
c.2525G>A |
p.G842D |
Missense |
11/46 |
- |
2 |
16-2114500-G-A |
c.2523C>T |
p.N841= |
Synonymous |
11/46 |
- |
1 |
16-2114503-G-T |
c.2520C>A |
p.T840= |
Synonymous |
11/46 |
- |
1 |
16-2114508-G-A |
c.2515C>T |
p.P839S |
Missense |
11/46 |
- |
3 |
16-2114515-G-A |
c.2508C>T |
p.L836= |
Synonymous |
11/46 |
- |
1 |
16-2114516-A-G |
c.2507T>C |
p.L836P |
Missense |
11/46 |
- |
1 |
16-2114518-GCG-CCA |
c.2503_2505delinsTGG |
p.R835W |
Missense |
11/46 |
- |
1 |
16-2114518-GC-TT |
c.2504_2505delinsAA |
p.R835Q |
Missense |
11/46 |
- |
2 |
16-2114519-CG-GC |
c.2503_2504delinsGC |
p.R835A |
Missense |
11/46 |
- |
1 |
16-2114520-G-A |
c.2503C>T |
p.R835C |
Missense |
11/46 |
- |
2 |
16-2114524-G-A |
c.2499C>T |
p.D833= |
Synonymous |
11/46 |
- |
1 |
16-2114527-GCG-CCA |
c.2494_2496delinsTGG |
p.R832W |
Missense |
11/46 |
- |
1 |
16-2114527-GC-TT |
c.2495_2496delinsAA |
p.R832Q |
Missense |
11/46 |
- |
1 |
16-2114528-C-T |
c.2495G>A |
p.R832H |
Missense |
11/46 |
- |
1 |
16-2114529-G-A |
c.2494C>T |
p.R832C |
Missense |
11/46 |
- |
2 |
16-2114529-G-T |
c.2494C>A |
p.R832S |
Missense |
11/46 |
- |
1 |
16-2114531-G-T |
c.2492C>A |
p.P831H |
Missense |
11/46 |
- |
1 |
16-2114532-G-A |
c.2491C>T |
p.P831S |
Missense |
11/46 |
- |
5 |
16-2114528-C-CG |
c.2494dup |
p.R832Pfs*40 |
Frameshift |
11/46 |
- |
4 |
16-2114528-CG-C |
c.2494del |
p.R832Afs*66 |
Frameshift |
11/46 |
- |
4 |
16-2114536-AG-A |
c.2486del |
p.P829Lfs*69 |
Frameshift |
11/46 |
- |
1 |
16-2114543-A-G |
c.2480T>C |
p.I827T |
Missense |
11/46 |
- |
1 |
16-2114545-TG-T |
c.2478del |
p.I827Sfs*71 |
Frameshift |
11/46 |
- |
1 |
16-2114547-C-T |
c.2476G>A |
p.V826I |
Missense |
11/46 |
- |
2 |
16-2114548-CC-AT |
c.2474_2475delinsAT |
p.R825H |
Missense |
11/46 |
- |
1 |
16-2114548-CCG-C |
c.2473_2474del |
p.R825Gfs*46 |
Frameshift |
11/46 |
- |
1 |
16-2114550-G-A |
c.2473C>T |
p.R825W |
Missense |
11/46 |
- |
4 |
16-2114555-C-G |
c.2468G>C |
p.G823A |
Missense |
11/46 |
- |
1 |
16-2114563-T-C |
c.2460A>G |
p.P820= |
Synonymous |
11/46 |
- |
1 |
16-2114563-T-G |
c.2460A>C |
p.P820= |
Synonymous |
11/46 |
- |
1 |
16-2114564-G-A |
c.2459C>T |
p.P820L |
Missense |
11/46 |
- |
1 |
16-2114564-G-C |
c.2459C>G |
p.P820R |
Missense |
11/46 |
- |
1 |
16-2114564-G-T |
c.2459C>A |
p.P820Q |
Missense |
11/46 |
- |
1 |
16-2114565-G-A |
c.2458C>T |
p.P820S |
Missense |
11/46 |
- |
1 |
16-2114567-GA-AG |
c.2455_2456delinsCT |
p.S819L |
Missense |
11/46 |
- |
1 |
16-2114576-T-C |
c.2447A>G |
p.D816G |
Missense |
11/46 |
- |
1 |
16-2114577-C-A |
c.2446G>T |
p.D816Y |
Missense |
11/46 |
- |
3 |
16-2114582-CT-TA |
c.2440_2441delinsTA |
p.S814Y |
Missense |
11/46 |
- |
1 |
16-2114583-T-C |
c.2440A>G |
p.S814G |
Missense |
11/46 |
- |
1 |
16-2114588-G-C |
c.2435C>G |
p.S812C |
Missense |
11/46 |
- |
1 |
16-2114589-A-C |
c.2434T>G |
p.S812A |
Missense |
11/46 |
- |
1 |
16-2114598-G-A |
c.2425C>T |
p.H809Y |
Missense |
11/46 |
- |
1 |
16-2114598-G-T |
c.2425C>A |
p.H809N |
Missense |
11/46 |
- |
1 |
16-2114599-CCT-ATG |
c.2422_2424delinsCAT |
p.R808H |
Missense |
11/46 |
- |
1 |
16-2114600-C-T |
c.2423G>A |
p.R808K |
Missense |
11/46 |
- |
1 |
16-2114600-CT-TG |
c.2422_2423delinsCA |
p.R808Q |
Missense |
11/46 |
- |
1 |
16-2114603-G-A |
c.2420C>T |
p.S807F |
Missense |
11/46 |
- |
3 |
16-2114607-C-T |
c.2416G>A |
p.V806M |
Missense |
11/46 |
- |
1 |
16-2114617-CAC-AAA |
c.2404_2406delinsTTT |
p.V802F |
Missense |
11/46 |
- |
1 |
16-2114617-CAC-GAT |
c.2404_2406delinsATC |
p.V802I |
Missense |
11/46 |
- |
1 |
16-2114618-A-G |
c.2405T>C |
p.V802A |
Missense |
11/46 |
- |
1 |
16-2114620-C-A |
c.2403G>T |
p.E801D |
Missense |
11/46 |
- |
1 |
16-2114620-C-G |
c.2403G>C |
p.E801D |
Missense |
11/46 |
- |
1 |
16-2114621-T-G |
c.2402A>C |
p.E801A |
Missense |
11/46 |
- |
1 |
16-2114622-C-A |
c.2401G>T |
p.E801* |
Nonsense |
11/46 |
- |
1 |
16-2114627-C-A |
c.2396G>T |
p.R799L |
Missense |
11/46 |
- |
1 |
16-2114627-C-T |
c.2396G>A |
p.R799Q |
Missense |
11/46 |
- |
1 |
16-2114631-C-G |
c.2392G>C |
p.V798L |
Missense |
11/46 |
- |
1 |
16-2114636-T-C |
c.2387A>G |
p.Y796C |
Missense |
11/46 |
- |
2 |
16-2114641-C-A |
c.2382G>T |
p.G794= |
Synonymous |
11/46 |
- |
2 |
16-2114641-C-G |
c.2382G>C |
p.G794= |
Synonymous |
11/46 |
- |
1 |
16-2114641-C-T |
c.2382G>A |
p.G794= |
Synonymous |
11/46 |
- |
1 |
16-2114645-G-A |
c.2378C>T |
p.P793L |
Missense |
11/46 |
- |
1 |
16-2114646-G-A |
c.2377C>T |
p.P793S |
Missense |
11/46 |
- |
1 |
16-2114647-CAG-GAT |
c.2374_2376delinsATC |
p.L792I |
Missense |
11/46 |
- |
1 |
16-2114648-A-C |
c.2375T>G |
p.L792R |
Missense |
11/46 |
- |
1 |
16-2114652-G-A |
c.2371C>T |
p.R791W |
Missense |
11/46 |
- |
1 |
16-2114657-C-A |
c.2366G>T |
p.G789V |
Missense |
11/46 |
- |
2 |
16-2114661-G-A |
c.2362C>T |
p.P788S |
Missense |
11/46 |
- |
1 |
16-2114662-G-A |
c.2361C>T |
p.N787= |
Synonymous |
11/46 |
- |
1 |
16-2114668-C-A |
c.2355G>T |
p.R785S |
Missense |
11/46 |
- |
1 |
16-2114668-CCT-ACA |
c.2353_2355delinsTGT |
p.R785C |
Missense |
11/46 |
- |
1 |
16-2114668-C-G |
c.2355G>C |
p.R785S |
Missense |
11/46 |
- |
1 |
16-2114669-C-T |
c.2354G>A |
p.R785K |
Missense |
11/46 |
- |
3 |
16-2114669-CT-TG |
c.2353_2354delinsCA |
p.R785Q |
Missense |
11/46 |
- |
1 |
16-2114670-T-A |
c.2353A>T |
p.R785W |
Missense |
11/46 |
- |
1 |
16-2114676-C-G |
c.2347G>C |
p.G783R |
Missense |
11/46 |
- |
1 |
16-2114676-C-T |
c.2347G>A |
p.G783S |
Missense |
11/46 |
- |
1 |
16-2114681-A-G |
c.2342T>C |
p.L781P |
Missense |
11/46 |
- |
1 |
16-2114684-A-G |
c.2339T>C |
p.V780A |
Missense |
11/46 |
- |
1 |
16-2114685-C-A |
c.2338G>T |
p.V780L |
Missense |
11/46 |
- |
1 |
16-2114685-C-G |
c.2338G>C |
p.V780L |
Missense |
11/46 |
- |
2 |
16-2114686-G-A |
c.2337C>T |
p.T779= |
Synonymous |
11/46 |
- |
1 |
16-2114686-GG-CT |
c.2336_2337delinsAG |
p.T779K |
Missense |
11/46 |
- |
1 |
16-2114687-G-A |
c.2336C>T |
p.T779I |
Missense |
11/46 |
- |
1 |
16-2114688-T-G |
c.2335A>C |
p.T779P |
Missense |
11/46 |
- |
1 |
16-2114690-A-G |
c.2333T>C |
p.L778P |
Missense |
11/46 |
- |
1 |
16-2114692-C-A |
c.2331G>T |
p.Q777H |
Missense |
11/46 |
- |
1 |
16-2114694-G-A |
c.2329C>T |
p.Q777* |
Nonsense |
11/46 |
- |
2 |
16-2114697-C-T |
c.2326G>A |
p.E776K |
Missense |
11/46 |
- |
1 |
16-2114696-TCCGTGGCTGCAAGCAG-T |
c.2311_2326del |
p.L771Nfs*9 |
Frameshift |
11/46 |
- |
1 |
16-2114700-T-A |
c.2323A>T |
p.T775S |
Missense |
11/46 |
- |
1 |
16-2114702-G-A |
c.2321C>T |
p.A774V |
Missense |
11/46 |
- |
1 |
16-2114704-T-A |
c.2319A>T |
p.A773= |
Synonymous |
11/46 |
- |
1 |
16-2114704-T-C |
c.2319A>G |
p.A773= |
Synonymous |
11/46 |
- |
1 |
16-2114704-T-G |
c.2319A>C |
p.A773= |
Synonymous |
11/46 |
- |
1 |
16-2114705-G-A |
c.2318C>T |
p.A773V |
Missense |
11/46 |
- |
1 |
16-2114709-G-A |
c.2314C>T |
p.L772F |
Missense |
11/46 |
- |
1 |
16-2114712-G-C |
c.2311C>G |
p.L771V |
Missense |
11/46 |
- |
1 |
16-2114713-C-A |
c.2310G>T |
p.R770= |
Synonymous |
11/46 |
- |
2 |
16-2114714-C-A |
c.2309G>T |
p.R770L |
Missense |
11/46 |
- |
1 |
16-2114714-C-T |
c.2309G>A |
p.R770Q |
Missense |
11/46 |
- |
2 |
16-2114715-G-A |
c.2308C>T |
p.R770W |
Missense |
11/46 |
- |
2 |
16-2114726-G-C |
c.2297C>G |
p.A766G |
Missense |
11/46 |
- |
1 |
16-2114730-G-A |
c.2293C>T |
p.P765S |
Missense |
11/46 |
- |
3 |
16-2114735-G-C |
c.2288C>G |
p.A763G |
Missense |
11/46 |
- |
1 |
16-2114736-C-T |
c.2287G>A |
p.A763T |
Missense |
11/46 |
- |
1 |
16-2114740-AG-CA |
c.2282_2283delinsTG |
p.T761M |
Missense |
11/46 |
- |
2 |
16-2114744-C-T |
c.2279G>A |
p.G760D |
Missense |
11/46 |
- |
2 |
16-2114746-C-A |
c.2277G>T |
p.E759D |
Missense |
11/46 |
- |
1 |
16-2114746-C-G |
c.2277G>C |
p.E759D |
Missense |
11/46 |
- |
1 |
16-2114746-C-T |
c.2277G>A |
p.E759= |
Synonymous |
11/46 |
- |
1 |
16-2114749-CAG-AAA |
c.2272_2274delinsTTT |
p.L758F |
Missense |
11/46 |
- |
1 |
16-2114751-G-A |
c.2272C>T |
p.L758= |
Synonymous |
11/46 |
- |
1 |
16-2114751-G-T |
c.2272C>A |
p.L758M |
Missense |
11/46 |
- |
1 |
16-2114753-T-G |
c.2270A>C |
p.Q757P |
Missense |
11/46 |
- |
1 |
16-2114754-G-A |
c.2269C>T |
p.Q757* |
Nonsense |
11/46 |
- |
2 |
16-2114754-G-T |
c.2269C>A |
p.Q757K |
Missense |
11/46 |
- |
1 |
16-2114753-TG-T |
c.2269del |
p.Q757Sfs*28 |
Frameshift |
11/46 |
- |
1 |
16-2114757-C-T |
c.2266G>A |
p.A756T |
Missense |
11/46 |
- |
1 |
16-2114759-G-T |
c.2264C>A |
p.P755Q |
Missense |
11/46 |
- |
1 |
16-2114760-G-A |
c.2263C>T |
p.P755S |
Missense |
11/46 |
- |
3 |
16-2114768-G-A |
c.2255C>T |
p.P752L |
Missense |
11/46 |
- |
1 |
16-2114768-G-T |
c.2255C>A |
p.P752H |
Missense |
11/46 |
- |
1 |
16-2114771-AG-GA |
c.2251_2252delinsTC |
p.L751S |
Missense |
11/46 |
- |
1 |
16-2114772-G-A |
c.2251C>T |
p.L751= |
Synonymous |
11/46 |
- |
1 |
16-2114774-C-T |
c.2249G>A |
p.W750* |
Nonsense |
11/46 |
- |
1 |
16-2114777-G-C |
c.2246C>G |
p.S749* |
Nonsense |
11/46 |
- |
1 |
16-2114777-G-T |
c.2246C>A |
p.S749* |
Nonsense |
11/46 |
- |
1 |
16-2114779-CG-AA |
c.2243_2244delinsTT |
p.S748F |
Missense |
11/46 |
- |
1 |
16-2114780-G-A |
c.2243C>T |
p.S748L |
Missense |
11/46 |
- |
2 |
16-2114780-GA-TC |
c.2242_2243inv |
p.S748E |
Missense |
11/46 |
- |
4 |
16-2114780-G-T |
c.2243C>A |
p.S748* |
Nonsense |
11/46 |
- |
1 |
16-2114781-A-C |
c.2242T>G |
p.S748A |
Missense |
11/46 |
- |
1 |
16-2114782-GG-CT |
c.2240_2241delinsAG |
p.A747E |
Missense |
11/46 |
- |
1 |
16-2114783-G-A |
c.2240C>T |
p.A747V |
Missense |
11/46 |
- |
1 |
16-2114784-C-A |
c.2239G>T |
p.A747S |
Missense |
11/46 |
- |
1 |
16-2114784-C-T |
c.2239G>A |
p.A747T |
Missense |
11/46 |
- |
1 |
16-2114786-T-C |
c.2237A>G |
p.N746S |
Missense |
11/46 |
- |
1 |
16-2114788-G-A |
c.2235C>T |
p.A745= |
Synonymous |
11/46 |
- |
1 |
16-2114788-G-C |
c.2235C>G |
p.A745= |
Synonymous |
11/46 |
- |
2 |
16-2114788-G-T |
c.2235C>A |
p.A745= |
Synonymous |
11/46 |
- |
1 |
16-2114789-G-A |
c.2234C>T |
p.A745V |
Missense |
11/46 |
- |
1 |
16-2114789-G-C |
c.2234C>G |
p.A745G |
Missense |
11/46 |
- |
1 |
16-2114791-GGA-CTC |
c.2230_2232delinsGAG |
p.S744E |
Missense |
11/46 |
- |
11 |
16-2114791-G-T |
c.2232C>A |
p.S744= |
Synonymous |
11/46 |
- |
1 |
16-2114792-G-A |
c.2231C>T |
p.S744F |
Missense |
11/46 |
- |
1 |
16-2114792-GA-AG |
c.2230_2231delinsCT |
p.S744L |
Missense |
11/46 |
- |
1 |
16-2114792-GA-CG |
c.2230_2231delinsCG |
p.S744R |
Missense |
11/46 |
- |
1 |
16-2114793-A-C |
c.2230T>G |
p.S744A |
Missense |
11/46 |
- |
7 |
16-2114793-A-T |
c.2230T>A |
p.S744T |
Missense |
11/46 |
- |
1 |
16-2114796-G-A |
c.2227C>T |
p.L743F |
Missense |
11/46 |
- |
1 |
16-2114799-ACGGGG-A |
c.2219_2223del |
p.A740Vfs*56 |
Frameshift |
11/46 |
- |
1 |
16-2114801-G-A |
c.2222C>T |
p.P741L |
Missense |
11/46 |
- |
1 |
16-2114802-G-A |
c.2221C>T |
p.P741S |
Missense |
11/46 |
- |
1 |
16-2114800-CG-C |
c.2222del |
p.P741Rfs*44 |
Frameshift |
11/46 |
- |
1 |
16-2114807-C-G |
c.2216G>C |
p.R739P |
Missense |
11/46 |
- |
18 |
16-2114807-C-T |
c.2216G>A |
p.R739Q |
Missense |
11/46 |
- |
18 |
16-2114808-G-A |
c.2215C>T |
p.R739W |
Missense |
11/46 |
- |
1 |
16-2114809-G-A |
c.2214C>T |
p.P738= |
Synonymous |
11/46 |
- |
1 |
16-2114809-G-C |
c.2214C>G |
p.P738= |
Synonymous |
11/46 |
- |
3 |
16-2114809-G-T |
c.2214C>A |
p.P738= |
Synonymous |
11/46 |
- |
1 |
16-2114810-G-C |
c.2213C>G |
p.P738R |
Missense |
11/46 |
- |
3 |
16-2114811-G-T |
c.2212C>A |
p.P738T |
Missense |
11/46 |
- |
1 |
16-2114814-C-A |
c.2209G>T |
p.G737C |
Missense |
11/46 |
- |
1 |
16-2114814-C-T |
c.2209G>A |
p.G737S |
Missense |
11/46 |
- |
1 |
16-2114815-A-C |
c.2208T>G |
p.P736= |
Synonymous |
11/46 |
- |
1 |
16-2114815-A-G |
c.2208T>C |
p.P736= |
Synonymous |
11/46 |
- |
1 |
16-2114815-A-T |
c.2208T>A |
p.P736= |
Synonymous |
11/46 |
- |
1 |
16-2114816-G-A |
c.2207C>T |
p.P736L |
Missense |
11/46 |
- |
1 |
16-2114817-G-A |
c.2206C>T |
p.P736S |
Missense |
11/46 |
- |
1 |
16-2114819-T-C |
c.2204A>G |
p.H735R |
Missense |
11/46 |
- |
1 |
16-2114824-G-A |
c.2199C>T |
p.P733= |
Synonymous |
11/46 |
- |
1 |
16-2114828-G-A |
c.2195C>T |
p.A732V |
Missense |
11/46 |
- |
2 |
16-2114828-GC-G |
c.2194del |
p.A732Lfs*53 |
Frameshift |
11/46 |
- |
1 |
16-2114831-G-A |
c.2192C>T |
p.P731L |
Missense |
11/46 |
- |
1 |
16-2114832-G-A |
c.2191C>T |
p.P731S |
Missense |
11/46 |
- |
1 |
16-2114833-C-A |
c.2190G>T |
p.S730= |
Synonymous |
11/46 |
- |
1 |
16-2114833-C-G |
c.2190G>C |
p.S730= |
Synonymous |
11/46 |
- |
1 |
16-2114833-C-T |
c.2190G>A |
p.S730= |
Synonymous |
11/46 |
- |
1 |
16-2114834-G-A |
c.2189C>T |
p.S730L |
Missense |
11/46 |
- |
2 |
16-2114834-G-T |
c.2189C>A |
p.S730* |
Nonsense |
11/46 |
- |
1 |
16-2114835-A-G |
c.2188T>C |
p.S730P |
Missense |
11/46 |
- |
1 |
16-2114837-C-A |
c.2186G>T |
p.C729F |
Missense |
11/46 |
- |
1 |
16-2114840-T-C |
c.2183A>G |
p.H728R |
Missense |
11/46 |
- |
2 |
16-2114842-CAG-GAT |
c.2179_2181delinsATC |
p.L727I |
Missense |
11/46 |
- |
1 |
16-2114843-A-C |
c.2180T>G |
p.L727R |
Missense |
11/46 |
- |
3 |
16-2114843-A-G |
c.2180T>C |
p.L727P |
Missense |
11/46 |
- |
14 |
16-2114843-A-T |
c.2180T>A |
p.L727Q |
Missense |
11/46 |
- |
1 |
16-2114846-A-G |
c.2177T>C |
p.L726P |
Missense |
11/46 |
- |
1 |
16-2114847-G-A |
c.2176C>T |
p.L726F |
Missense |
11/46 |
- |
1 |
16-2114849-G-A |
c.2174C>T |
p.A725V |
Missense |
11/46 |
- |
1 |
16-2114851-GC-CT |
c.2171_2172delinsAG |
p.G724E |
Missense |
11/46 |
- |
1 |
16-2114855-G-A |
c.2168C>T |
p.P723L |
Missense |
11/46 |
- |
1 |
16-2114859-C-G |
c.2164G>C |
p.G722R |
Missense |
11/46 |
- |
1 |
16-2114861-G-A |
c.2162C>T |
p.A721V |
Missense |
11/46 |
- |
1 |
16-2114864-T-G |
c.2159A>C |
p.D720A |
Missense |
11/46 |
- |
2 |
16-2114865-C-T |
c.2158G>A |
p.D720N |
Missense |
11/46 |
- |
1 |
16-2114866-CG-C |
c.2157del |
p.H719Qfs*66 |
Frameshift |
11/46 |
- |
1 |
16-2114867-T-C |
c.2156A>G |
p.H719R |
Missense |
11/46 |
- |
1 |
16-2114867-T-G |
c.2156A>C |
p.H719P |
Missense |
11/46 |
- |
1 |
16-2114869-C-A |
c.2154G>T |
p.Q718H |
Missense |
11/46 |
- |
1 |
16-2114869-C-G |
c.2154G>C |
p.Q718H |
Missense |
11/46 |
- |
1 |
16-2114871-G-A |
c.2152C>T |
p.Q718* |
Nonsense |
11/46 |
- |
4 |
16-2114871-G-T |
c.2152C>A |
p.Q718K |
Missense |
11/46 |
- |
1 |
16-2114872-C-A |
c.2151G>T |
p.L717F |
Missense |
11/46 |
- |
1 |
16-2114872-CAA-GAT |
c.2149_2151delinsATC |
p.L717I |
Missense |
11/46 |
- |
1 |
16-2114886-C-A |
c.2137G>T |
p.D713Y |
Missense |
11/46 |
- |
1 |
16-2114886-C-T |
c.2137G>A |
p.D713N |
Missense |
11/46 |
- |
1 |
16-2114888-C-G |
c.2135G>C |
p.G712A |
Missense |
11/46 |
- |
2 |
16-2114889-C-G |
c.2134G>C |
p.G712R |
Missense |
11/46 |
- |
1 |
16-2114889-C-T |
c.2134G>A |
p.G712S |
Missense |
11/46 |
- |
1 |
16-2114893-G-A |
c.2130C>T |
p.L710= |
Synonymous |
11/46 |
- |
1 |
16-2114902-G-A |
c.2121C>T |
p.V707= |
Synonymous |
11/46 |
- |
1 |
16-2114902-G-C |
c.2121C>G |
p.V707= |
Synonymous |
11/46 |
- |
1 |
16-2114902-G-T |
c.2121C>A |
p.V707= |
Synonymous |
11/46 |
- |
1 |
16-2114910-G-A |
c.2113C>T |
p.Q705* |
Nonsense |
11/46 |
- |
1 |
16-2114913-C-T |
c.2110G>A |
p.G704S |
Missense |
11/46 |
- |
1 |
16-2114914-G-A |
c.2109C>T |
p.H703= |
Synonymous |
11/46 |
- |
2 |
16-2114915-T-C |
c.2108A>G |
p.H703R |
Missense |
11/46 |
- |
1 |
16-2114917-GAG-CAT |
c.2104_2106delinsATG |
p.L702M |
Missense |
11/46 |
- |
1 |
16-2114921-G-T |
c.2102C>A |
p.T701N |
Missense |
11/46 |
- |
15 |
16-2114922-T-C |
c.2101A>G |
p.T701A |
Missense |
11/46 |
- |
1 |
16-2114923-GA-CT |
c.2099_2100delinsAG |
p.V700E |
Missense |
11/46 |
- |
2 |
16-2115253-G-A |
c.2097+125C>T |
- |
IntronicSNV |
- |
10/45 |
1 |
16-2115322-G-A |
c.2097+56C>T |
- |
IntronicSNV |
- |
10/45 |
2 |
16-2115377-C-T |
c.2097+1G>A |
- |
IntronicSNV |
- |
10/45 |
1 |
16-2115378-C-A |
c.2097G>T |
p.S699= |
Synonymous |
10/46 |
- |
2 |
16-2115378-C-G |
c.2097G>C |
p.S699= |
Synonymous |
10/46 |
- |
1 |
16-2115378-C-T |
c.2097G>A |
p.S699= |
Synonymous |
10/46 |
- |
1 |
16-2115379-G-A |
c.2096C>T |
p.S699L |
Missense |
10/46 |
- |
2 |
16-2115380-A-G |
c.2095T>C |
p.S699P |
Missense |
10/46 |
- |
1 |
16-2115381-G-C |
c.2094C>G |
p.Y698* |
Nonsense |
10/46 |
- |
1 |
16-2115383-A-C |
c.2092T>G |
p.Y698D |
Missense |
10/46 |
- |
3 |
16-2115385-TG-GC |
c.2089_2090delinsGC |
p.Q697A |
Missense |
10/46 |
- |
1 |
16-2115388-G-A |
c.2087C>T |
p.A696V |
Missense |
10/46 |
- |
2 |
16-2115389-C-T |
c.2086G>A |
p.A696T |
Missense |
10/46 |
- |
3 |
16-2115390-G-A |
c.2085C>T |
p.P695= |
Synonymous |
10/46 |
- |
2 |
16-2115390-G-T |
c.2085C>A |
p.P695= |
Synonymous |
10/46 |
- |
1 |
16-2115394-G-A |
c.2081C>T |
p.P694L |
Missense |
10/46 |
- |
8 |
16-2115389-C-CG |
c.2085dup |
p.A696Rfs*18 |
Frameshift |
10/46 |
- |
6 |
16-2115389-CG-C |
c.2085del |
p.A696Rfs*89 |
Frameshift |
10/46 |
- |
2 |
16-2115395-G-A |
c.2080C>T |
p.P694S |
Missense |
10/46 |
- |
3 |
16-2115396-C-T |
c.2079G>A |
p.G693= |
Synonymous |
10/46 |
- |
1 |
16-2115397-C-A |
c.2078G>T |
p.G693V |
Missense |
10/46 |
- |
1 |
16-2115397-C-G |
c.2078G>C |
p.G693A |
Missense |
10/46 |
- |
1 |
16-2115397-C-T |
c.2078G>A |
p.G693E |
Missense |
10/46 |
- |
1 |
16-2115395-GCC-G |
c.2078_2079del |
p.G693Afs*20 |
Frameshift |
10/46 |
- |
1 |
16-2115398-C-G |
c.2077G>C |
p.G693R |
Missense |
10/46 |
- |
2 |
16-2115398-C-T |
c.2077G>A |
p.G693R |
Missense |
10/46 |
- |
1 |
16-2115395-G-GC |
c.2079dup |
p.P694Afs*20 |
Frameshift |
10/46 |
- |
1 |
16-2115400-G-A |
c.2075C>T |
p.A692V |
Missense |
10/46 |
- |
1 |
16-2115401-C-A |
c.2074G>T |
p.A692S |
Missense |
10/46 |
- |
1 |
16-2115401-C-T |
c.2074G>A |
p.A692T |
Missense |
10/46 |
- |
3 |
16-2115403-G-A |
c.2072C>T |
p.P691L |
Missense |
10/46 |
- |
1 |
16-2115401-CG-C |
c.2073del |
p.A692Rfs*93 |
Frameshift |
10/46 |
- |
2 |
16-2115404-G-A |
c.2071C>T |
p.P691S |
Missense |
10/46 |
- |
1 |
16-2115406-A-G |
c.2069T>C |
p.V690A |
Missense |
10/46 |
- |
1 |
16-2115406-A-T |
c.2069T>A |
p.V690D |
Missense |
10/46 |
- |
3 |
16-2115407-C-T |
c.2068G>A |
p.V690I |
Missense |
10/46 |
- |
1 |
16-2115408-G-A |
c.2067C>T |
p.S689= |
Synonymous |
10/46 |
- |
2 |
16-2115409-G-A |
c.2066C>T |
p.S689F |
Missense |
10/46 |
- |
1 |
16-2115417-G-A |
c.2058C>T |
p.F686= |
Synonymous |
10/46 |
- |
3 |
16-2115421-T-A |
c.2054A>T |
p.E685V |
Missense |
10/46 |
- |
1 |
16-2115423-TCT-ACA |
c.2050_2052delinsTGT |
p.R684C |
Missense |
10/46 |
- |
1 |
16-2115423-TCT-ATG |
c.2050_2052delinsCAT |
p.R684H |
Missense |
10/46 |
- |
1 |
16-2115424-CT-TG |
c.2050_2051delinsCA |
p.R684Q |
Missense |
10/46 |
- |
1 |
16-2115425-T-A |
c.2050A>T |
p.R684* |
Nonsense |
10/46 |
- |
1 |
16-2115428-A-C |
c.2047T>G |
p.W683G |
Missense |
10/46 |
- |
1 |
16-2115428-A-G |
c.2047T>C |
p.W683R |
Missense |
10/46 |
- |
2 |
16-2115428-A-T |
c.2047T>A |
p.W683R |
Missense |
10/46 |
- |
2 |
16-2115435-A-C |
c.2040T>G |
p.Y680* |
Nonsense |
10/46 |
- |
1 |
16-2115436-T-A |
c.2039A>T |
p.Y680F |
Missense |
10/46 |
- |
8 |
16-2115437-TA-T |
c.2038del |
p.Y680Mfs*105 |
Frameshift |
10/46 |
- |
2 |
16-2115438-G-A |
c.2037C>T |
p.P679= |
Synonymous |
10/46 |
- |
1 |
16-2115438-G-C |
c.2037C>G |
p.P679= |
Synonymous |
10/46 |
- |
1 |
16-2115438-G-T |
c.2037C>A |
p.P679= |
Synonymous |
10/46 |
- |
1 |
16-2115439-G-C |
c.2036C>G |
p.P679R |
Missense |
10/46 |
- |
1 |
16-2115437-AG-A |
c.2037del |
p.Y680Mfs*105 |
Frameshift |
10/46 |
- |
1 |
16-2115443-C-A |
c.2032G>T |
p.A678S |
Missense |
10/46 |
- |
1 |
16-2115443-C-T |
c.2032G>A |
p.A678T |
Missense |
10/46 |
- |
1 |
16-2115444-CC-GT |
c.2030_2031delinsAC |
p.G677D |
Missense |
10/46 |
- |
1 |
16-2115445-C-T |
c.2030G>A |
p.G677E |
Missense |
10/46 |
- |
1 |
16-2115446-C-G |
c.2029G>C |
p.G677R |
Missense |
10/46 |
- |
1 |
16-2115446-C-T |
c.2029G>A |
p.G677R |
Missense |
10/46 |
- |
2 |
16-2115448-G-A |
c.2027C>T |
p.P676L |
Missense |
10/46 |
- |
1 |
16-2115449-G-A |
c.2026C>T |
p.P676S |
Missense |
10/46 |
- |
1 |
16-2115455-C-T |
c.2020G>A |
p.G674R |
Missense |
10/46 |
- |
1 |
16-2115457-G-A |
c.2018C>T |
p.P673L |
Missense |
10/46 |
- |
1 |
16-2115458-G-C |
c.2017C>G |
p.P673A |
Missense |
10/46 |
- |
2 |
16-2115460-C-A |
c.2015G>T |
p.G672V |
Missense |
10/46 |
- |
1 |
16-2115460-C-G |
c.2015G>C |
p.G672A |
Missense |
10/46 |
- |
1 |
16-2115460-C-T |
c.2015G>A |
p.G672E |
Missense |
10/46 |
- |
1 |
16-2115462-TG-AT |
c.2012_2013delinsAT |
p.S671Y |
Missense |
10/46 |
- |
1 |
16-2115463-GA-CC |
c.2011_2012delinsGG |
p.S671G |
Missense |
10/46 |
- |
1 |
16-2115465-CG-GA |
c.2009_2010delinsTC |
p.T670I |
Missense |
10/46 |
- |
2 |
16-2115467-T-A |
c.2008A>T |
p.T670S |
Missense |
10/46 |
- |
1 |
16-2115469-C-A |
c.2006G>T |
p.C669F |
Missense |
10/46 |
- |
1 |
16-2115471-GC-CT |
c.2003_2004delinsAG |
p.G668E |
Missense |
10/46 |
- |
1 |
16-2115472-C-G |
c.2003G>C |
p.G668A |
Missense |
10/46 |
- |
1 |
16-2115472-C-T |
c.2003G>A |
p.G668D |
Missense |
10/46 |
- |
1 |
16-2115479-C-G |
c.1996G>C |
p.A666P |
Missense |
10/46 |
- |
1 |
16-2115483-G-A |
c.1992C>T |
p.A664= |
Synonymous |
10/46 |
- |
1 |
16-2115484-G-A |
c.1991C>T |
p.A664V |
Missense |
10/46 |
- |
1 |
16-2115485-C-G |
c.1990G>C |
p.A664P |
Missense |
10/46 |
- |
1 |
16-2115485-C-T |
c.1990G>A |
p.A664T |
Missense |
10/46 |
- |
1 |
16-2115486-C-T |
c.1989G>A |
p.Q663= |
Synonymous |
10/46 |
- |
1 |
16-2115488-G-A |
c.1987C>T |
p.Q663* |
Nonsense |
10/46 |
- |
2 |
16-2115490-G-A |
c.1985C>T |
p.P662L |
Missense |
10/46 |
- |
2 |
16-2115487-TG-T |
c.1987del |
p.Q663Rfs*122 |
Frameshift |
10/46 |
- |
2 |
16-2115494-G-A |
c.1981C>T |
p.H661Y |
Missense |
10/46 |
- |
1 |
16-2115498-G-GT |
c.1976_1977insA |
p.C660Lfs*54 |
Frameshift |
10/46 |
- |
1 |
16-2115498-GGA-G |
c.1975_1976del |
p.S659Lfs*54 |
Frameshift |
10/46 |
- |
1 |
16-2115501-G-A |
c.1974C>T |
p.A658= |
Synonymous |
10/46 |
- |
1 |
16-2115502-G-A |
c.1973C>T |
p.A658V |
Missense |
10/46 |
- |
1 |
16-2115503-C-T |
c.1972G>A |
p.A658T |
Missense |
10/46 |
- |
2 |
16-2115504-G-C |
c.1971C>G |
p.D657E |
Missense |
10/46 |
- |
1 |
16-2115504-G-T |
c.1971C>A |
p.D657E |
Missense |
10/46 |
- |
1 |
16-2115507-CAG-AAA |
c.1966_1968delinsTTT |
p.L656F |
Missense |
10/46 |
- |
1 |
16-2115508-A-G |
c.1967T>C |
p.L656P |
Missense |
10/46 |
- |
1 |
16-2115509-G-C |
c.1966C>G |
p.L656V |
Missense |
10/46 |
- |
1 |
16-2115509-G-T |
c.1966C>A |
p.L656M |
Missense |
10/46 |
- |
1 |
16-2115511-G-A |
c.1964C>T |
p.P655L |
Missense |
10/46 |
- |
7 |
16-2115512-G-C |
c.1963C>G |
p.P655A |
Missense |
10/46 |
- |
1 |
16-2115513-C-A |
c.1962G>T |
p.L654F |
Missense |
10/46 |
- |
1 |
16-2115515-A-C |
c.1960T>G |
p.L654V |
Missense |
10/46 |
- |
2 |
16-2115518-A-T |
c.1957T>A |
p.C653S |
Missense |
10/46 |
- |
1 |
16-2115520-A-C |
c.1955T>G |
p.I652S |
Missense |
10/46 |
- |
1 |
16-2115520-A-G |
c.1955T>C |
p.I652T |
Missense |
10/46 |
- |
1 |
16-2115521-T-A |
c.1954A>T |
p.I652F |
Missense |
10/46 |
- |
1 |
16-2115524-T-C |
c.1951A>G |
p.N651D |
Missense |
10/46 |
- |
1 |
16-2115524-T-G |
c.1951A>C |
p.N651H |
Missense |
10/46 |
- |
1 |
16-2115526-G-A |
c.1949C>T |
p.A650V |
Missense |
10/46 |
- |
1 |
16-2115527-C-A |
c.1948G>T |
p.A650S |
Missense |
10/46 |
- |
1 |
16-2115527-C-G |
c.1948G>C |
p.A650P |
Missense |
10/46 |
- |
1 |
16-2115527-C-T |
c.1948G>A |
p.A650T |
Missense |
10/46 |
- |
1 |
16-2115530-C-A |
c.1945G>T |
p.G649* |
Nonsense |
10/46 |
- |
1 |
16-2115530-C-G |
c.1945G>C |
p.G649R |
Missense |
10/46 |
- |
1 |
16-2115530-C-T |
c.1945G>A |
p.G649R |
Missense |
10/46 |
- |
1 |
16-2115537-C-T |
c.1938G>A |
p.W646* |
Nonsense |
10/46 |
- |
1 |
16-2115540-GCG-CCA |
c.1933_1935delinsTGG |
p.R645W |
Missense |
10/46 |
- |
1 |
16-2115542-G-C |
c.1933C>G |
p.R645G |
Missense |
10/46 |
- |
1 |
16-2115543-TCCC-GGA |
c.1929_1932delinsTCC |
p.G644Pfs*141 |
Frameshift |
10/46 |
- |
1 |
16-2115543-TCC-GCT |
c.1930_1932delinsAGC |
p.G644S |
Missense |
10/46 |
- |
2 |
16-2115545-C-A |
c.1930G>T |
p.G644* |
Nonsense |
10/46 |
- |
1 |
16-2115545-C-T |
c.1930G>A |
p.G644R |
Missense |
10/46 |
- |
1 |
16-2115543-TC-T |
c.1931del |
p.G644Dfs*141 |
Frameshift |
10/46 |
- |
1 |
16-2115550-G-A |
c.1925C>T |
p.P642L |
Missense |
10/46 |
- |
1 |
16-2115553-A-G |
c.1922T>C |
p.M641T |
Missense |
10/46 |
- |
1 |
16-2115560-C-T |
c.1915G>A |
p.A639T |
Missense |
10/46 |
- |
1 |
16-2115561-G-A |
c.1914C>T |
p.P638= |
Synonymous |
10/46 |
- |
2 |
16-2115561-G-C |
c.1914C>G |
p.P638= |
Synonymous |
10/46 |
- |
1 |
16-2115561-G-T |
c.1914C>A |
p.P638= |
Synonymous |
10/46 |
- |
1 |
16-2115562-G-A |
c.1913C>T |
p.P638L |
Missense |
10/46 |
- |
1 |
16-2115563-G-A |
c.1912C>T |
p.P638S |
Missense |
10/46 |
- |
3 |
16-2115564-G-A |
c.1911C>T |
p.A637= |
Synonymous |
10/46 |
- |
1 |
16-2115564-G-C |
c.1911C>G |
p.A637= |
Synonymous |
10/46 |
- |
1 |
16-2115564-G-T |
c.1911C>A |
p.A637= |
Synonymous |
10/46 |
- |
1 |
16-2115560-CG-C |
c.1914del |
p.A639Rfs*146 |
Frameshift |
10/46 |
- |
1 |
16-2115565-G-A |
c.1910C>T |
p.A637V |
Missense |
10/46 |
- |
4 |
16-2115567-CAG-GAT |
c.1906_1908delinsATC |
p.L636I |
Missense |
10/46 |
- |
1 |
16-2115567-C-T |
c.1908G>A |
p.L636= |
Synonymous |
10/46 |
- |
1 |
16-2115569-G-T |
c.1906C>A |
p.L636M |
Missense |
10/46 |
- |
2 |
16-2115572-G-A |
c.1903C>T |
p.Q635* |
Nonsense |
10/46 |
- |
1 |
16-2115572-G-C |
c.1903C>G |
p.Q635E |
Missense |
10/46 |
- |
1 |
16-2115572-G-T |
c.1903C>A |
p.Q635K |
Missense |
10/46 |
- |
1 |
16-2115574-G-A |
c.1901C>T |
p.T634I |
Missense |
10/46 |
- |
1 |
16-2115575-T-A |
c.1900A>T |
p.T634S |
Missense |
10/46 |
- |
1 |
16-2115576-CC-GA |
c.1898_1899delinsTC |
p.R633I |
Missense |
10/46 |
- |
1 |
16-2115577-CT-TG |
c.1897_1898delinsCA |
p.R633Q |
Missense |
10/46 |
- |
1 |
16-2115578-T-A |
c.1897A>T |
p.R633W |
Missense |
10/46 |
- |
3 |
16-2115583-T-C |
c.1892A>G |
p.D631G |
Missense |
10/46 |
- |
1 |
16-2115588-G-A |
c.1887C>T |
p.S629= |
Synonymous |
10/46 |
- |
1 |
16-2115588-G-C |
c.1887C>G |
p.S629= |
Synonymous |
10/46 |
- |
1 |
16-2115588-G-T |
c.1887C>A |
p.S629= |
Synonymous |
10/46 |
- |
1 |
16-2115589-G-A |
c.1886C>T |
p.S629F |
Missense |
10/46 |
- |
2 |
16-2115591-CC-GA |
c.1883_1884delinsTC |
p.R628I |
Missense |
10/46 |
- |
1 |
16-2115593-T-A |
c.1882A>T |
p.R628W |
Missense |
10/46 |
- |
1 |
16-2115595-CT-AG |
c.1879_1880inv |
p.S627L |
Missense |
10/46 |
- |
2 |
16-2115599-C-G |
c.1876G>C |
p.E626Q |
Missense |
10/46 |
- |
1 |
16-2115599-C-T |
c.1876G>A |
p.E626K |
Missense |
10/46 |
- |
1 |
16-2115602-G-A |
c.1873C>T |
p.P625S |
Missense |
10/46 |
- |
1 |
16-2115603-C-T |
c.1872G>A |
p.E624= |
Synonymous |
10/46 |
- |
1 |
16-2115607-C-T |
c.1868G>A |
p.S623N |
Missense |
10/46 |
- |
1 |
16-2115611-C-G |
c.1864G>C |
p.G622R |
Missense |
10/46 |
- |
1 |
16-2115617-C-T |
c.1858G>A |
p.E620K |
Missense |
10/46 |
- |
2 |
16-2115619-G-T |
c.1856C>A |
p.P619Q |
Missense |
10/46 |
- |
1 |
16-2115620-G-T |
c.1855C>A |
p.P619T |
Missense |
10/46 |
- |
1 |
16-2115621-G-C |
c.1854C>G |
p.T618= |
Synonymous |
10/46 |
- |
1 |
16-2115623-T-A |
c.1852A>T |
p.T618S |
Missense |
10/46 |
- |
1 |
16-2115629-T-A |
c.1850-4A>T |
- |
IntronicSNV |
- |
9/45 |
6 |
16-2115629-T-C |
c.1850-4A>G |
- |
IntronicSNV |
- |
9/45 |
6 |
16-2115686-C-T |
c.1850-61G>A |
- |
IntronicSNV |
- |
9/45 |
1 |
16-2115736-A-G |
c.1850-111T>C |
- |
IntronicSNV |
- |
9/45 |
1 |
16-2115739-T-C |
c.1850-114A>G |
- |
IntronicSNV |
- |
9/45 |
1 |
16-2115872-T-C |
c.1849+120A>G |
- |
IntronicSNV |
- |
9/45 |
1 |
16-2115965-CCCACCACCCACCA-C |
c.1849+14_1849+26del |
- |
IntronicDeletion |
- |
9/45 |
1 |
16-2115989-C-CA |
c.1849+2dup |
- |
SpliceDonorInsertion |
- |
9/45 |
1 |
16-2115990-A-C |
c.1849+2T>G |
- |
IntronicSNV |
- |
9/45 |
1 |
16-2115993-T-C |
c.1848A>G |
p.A616= |
Synonymous |
9/46 |
- |
1 |
16-2115994-G-A |
c.1847C>T |
p.A616V |
Missense |
9/46 |
- |
2 |
16-2116000-CT-GG |
c.1840_1841delinsCC |
p.S614P |
Missense |
9/46 |
- |
1 |
16-2116004-G-T |
c.1837C>A |
p.L613I |
Missense |
9/46 |
- |
1 |
16-2116007-G-A |
c.1834C>T |
p.L612F |
Missense |
9/46 |
- |
1 |
16-2116008-CCG-ACA |
c.1831_1833delinsTGT |
p.R611C |
Missense |
9/46 |
- |
1 |
16-2116008-CCG-GCT |
c.1831_1833delinsAGC |
p.R611S |
Missense |
9/46 |
- |
1 |
16-2116008-C-A |
c.1833G>T |
p.R611= |
Synonymous |
9/46 |
- |
2 |
16-2116008-C-G |
c.1833G>C |
p.R611= |
Synonymous |
9/46 |
- |
2 |
16-2116008-C-T |
c.1833G>A |
p.R611= |
Synonymous |
9/46 |
- |
2 |
16-2116010-G-A |
c.1831C>T |
p.R611W |
Missense |
9/46 |
- |
4 |
16-2116010-G-T |
c.1831C>A |
p.R611= |
Synonymous |
9/46 |
- |
2 |
16-2116011-G-C |
c.1830C>G |
p.Y610* |
Nonsense |
9/46 |
- |
1 |
16-2116011-G-T |
c.1830C>A |
p.Y610* |
Nonsense |
9/46 |
- |
1 |
16-2116014-CAC-AAA |
c.1825_1827delinsTTT |
p.V609F |
Missense |
9/46 |
- |
1 |
16-2116016-C-A |
c.1825G>T |
p.V609L |
Missense |
9/46 |
- |
1 |
16-2116016-C-G |
c.1825G>C |
p.V609L |
Missense |
9/46 |
- |
1 |
16-2116016-C-T |
c.1825G>A |
p.V609M |
Missense |
9/46 |
- |
1 |
16-2116019-G-A |
c.1822C>T |
p.Q608* |
Nonsense |
9/46 |
- |
2 |
16-2116020-CAG-GAT |
c.1819_1821delinsATC |
p.L607I |
Missense |
9/46 |
- |
1 |
16-2116021-A-G |
c.1820T>C |
p.L607P |
Missense |
9/46 |
- |
2 |
16-2116023-CC-AT |
c.1817_1818delinsAT |
p.R606H |
Missense |
9/46 |
- |
1 |
16-2116023-CCG-GAT |
c.1816_1818delinsATC |
p.R606I |
Missense |
9/46 |
- |
1 |
16-2116024-CG-TT |
c.1816_1817delinsAA |
p.R606K |
Missense |
9/46 |
- |
1 |
16-2116024-C-T |
c.1817G>A |
p.R606Q |
Missense |
9/46 |
- |
1 |
16-2116025-G-A |
c.1816C>T |
p.R606W |
Missense |
9/46 |
- |
1 |
16-2116027-A-G |
c.1814T>C |
p.L605P |
Missense |
9/46 |
- |
2 |
16-2116029-C-T |
c.1812G>A |
p.Q604= |
Synonymous |
9/46 |
- |
1 |
16-2116031-G-A |
c.1810C>T |
p.Q604* |
Nonsense |
9/46 |
- |
1 |
16-2116032-G-A |
c.1809C>T |
p.A603= |
Synonymous |
9/46 |
- |
1 |
16-2116032-G-C |
c.1809C>G |
p.A603= |
Synonymous |
9/46 |
- |
1 |
16-2116032-G-T |
c.1809C>A |
p.A603= |
Synonymous |
9/46 |
- |
1 |
16-2116034-C-A |
c.1807G>T |
p.A603S |
Missense |
9/46 |
- |
3 |
16-2116034-C-T |
c.1807G>A |
p.A603T |
Missense |
9/46 |
- |
1 |
16-2116032-GGCGGGCCGCCGGA-G |
c.1796_1808del |
p.L599Pfs*182 |
Frameshift |
9/46 |
- |
1 |
16-2116036-G-A |
c.1805C>T |
p.P602L |
Missense |
9/46 |
- |
1 |
16-2116036-G-T |
c.1805C>A |
p.P602H |
Missense |
9/46 |
- |
1 |
16-2116037-G-A |
c.1804C>T |
p.P602S |
Missense |
9/46 |
- |
1 |
16-2116038-CCG-AAA |
c.1801_1803delinsTTT |
p.R601F |
Missense |
9/46 |
- |
1 |
16-2116038-CCG-GAT |
c.1801_1803delinsATC |
p.R601I |
Missense |
9/46 |
- |
1 |
16-2116038-CCG-GCT |
c.1801_1803delinsAGC |
p.R601S |
Missense |
9/46 |
- |
1 |
16-2116039-C-A |
c.1802G>T |
p.R601L |
Missense |
9/46 |
- |
1 |
16-2116039-CG-GC |
c.1801_1802delinsGC |
p.R601A |
Missense |
9/46 |
- |
1 |
16-2116039-CG-TT |
c.1801_1802delinsAA |
p.R601K |
Missense |
9/46 |
- |
2 |
16-2116038-C-A |
c.1803G>T |
p.R601= |
Synonymous |
9/46 |
- |
1 |
16-2116038-C-G |
c.1803G>C |
p.R601= |
Synonymous |
9/46 |
- |
1 |
16-2116038-C-T |
c.1803G>A |
p.R601= |
Synonymous |
9/46 |
- |
1 |
16-2116040-G-T |
c.1801C>A |
p.R601= |
Synonymous |
9/46 |
- |
1 |
16-2116041-CCG-ACA |
c.1798_1800delinsTGT |
p.R600C |
Missense |
9/46 |
- |
1 |
16-2116042-C-G |
c.1799G>C |
p.R600P |
Missense |
9/46 |
- |
1 |
16-2116043-G-A |
c.1798C>T |
p.R600W |
Missense |
9/46 |
- |
1 |
16-2116045-GA-G |
c.1796del |
p.L599Pfs*186 |
Frameshift |
9/46 |
- |
1 |
16-2116046-G-A |
c.1795C>T |
p.L599F |
Missense |
9/46 |
- |
1 |
16-2116047-C-A |
c.1794G>T |
p.E598D |
Missense |
9/46 |
- |
1 |
16-2116047-C-G |
c.1794G>C |
p.E598D |
Missense |
9/46 |
- |
1 |
16-2116049-C-T |
c.1792G>A |
p.E598K |
Missense |
9/46 |
- |
1 |
16-2116052-G-A |
c.1789C>T |
p.Q597* |
Nonsense |
9/46 |
- |
3 |
16-2116051-TG-T |
c.1789del |
p.Q597Rfs*188 |
Frameshift |
9/46 |
- |
1 |
16-2116055-T-C |
c.1786A>G |
p.T596A |
Missense |
9/46 |
- |
1 |
16-2116057-C-A |
c.1784G>T |
p.G595V |
Missense |
9/46 |
- |
1 |
16-2116057-C-T |
c.1784G>A |
p.G595E |
Missense |
9/46 |
- |
1 |
16-2116058-C-G |
c.1783G>C |
p.G595R |
Missense |
9/46 |
- |
1 |
16-2116060-A-T |
c.1781T>A |
p.F594Y |
Missense |
9/46 |
- |
4 |
16-2116061-AT-A |
c.1779del |
p.E593Dfs*192 |
Frameshift |
9/46 |
- |
1 |
16-2116064-C-A |
c.1777G>T |
p.E593* |
Nonsense |
9/46 |
- |
2 |
16-2116064-C-T |
c.1777G>A |
p.E593K |
Missense |
9/46 |
- |
1 |
16-2116065-G-A |
c.1776C>T |
p.A592= |
Synonymous |
9/46 |
- |
1 |
16-2116065-G-T |
c.1776C>A |
p.A592= |
Synonymous |
9/46 |
- |
1 |
16-2116066-G-A |
c.1775C>T |
p.A592V |
Missense |
9/46 |
- |
1 |
16-2116066-G-C |
c.1775C>G |
p.A592G |
Missense |
9/46 |
- |
1 |
16-2116072-G-A |
c.1769C>T |
p.T590I |
Missense |
9/46 |
- |
1 |
16-2116072-G-T |
c.1769C>A |
p.T590N |
Missense |
9/46 |
- |
1 |
16-2116073-T-C |
c.1768A>G |
p.T590A |
Missense |
9/46 |
- |
1 |
16-2116075-A-C |
c.1766T>G |
p.L589R |
Missense |
9/46 |
- |
1 |
16-2116076-G-A |
c.1765C>T |
p.L589F |
Missense |
9/46 |
- |
1 |
16-2116075-AG-A |
c.1765del |
p.L589Sfs*196 |
Frameshift |
9/46 |
- |
1 |
16-2116078-A-C |
c.1763T>G |
p.F588C |
Missense |
9/46 |
- |
1 |
16-2116081-G-A |
c.1760C>T |
p.A587V |
Missense |
9/46 |
- |
1 |
16-2116081-G-C |
c.1760C>G |
p.A587G |
Missense |
9/46 |
- |
1 |
16-2116081-G-T |
c.1760C>A |
p.A587D |
Missense |
9/46 |
- |
1 |
16-2116082-C-A |
c.1759G>T |
p.A587S |
Missense |
9/46 |
- |
1 |
16-2116083-T-A |
c.1758A>T |
p.E586D |
Missense |
9/46 |
- |
1 |
16-2116083-T-G |
c.1758A>C |
p.E586D |
Missense |
9/46 |
- |
2 |
16-2116084-T-C |
c.1757A>G |
p.E586G |
Missense |
9/46 |
- |
1 |
16-2116085-C-T |
c.1756G>A |
p.E586K |
Missense |
9/46 |
- |
1 |
16-2116087-C-T |
c.1754G>A |
p.R585H |
Missense |
9/46 |
- |
1 |
16-2116089-G-A |
c.1752C>T |
p.S584= |
Synonymous |
9/46 |
- |
1 |
16-2116090-C-A |
c.1751G>T |
p.S584I |
Missense |
9/46 |
- |
1 |
16-2116094-G-C |
c.1747C>G |
p.L583V |
Missense |
9/46 |
- |
1 |
16-2116096-C-T |
c.1745G>A |
p.R582H |
Missense |
9/46 |
- |
2 |
16-2116097-G-A |
c.1744C>T |
p.R582C |
Missense |
9/46 |
- |
2 |
16-2116098-CAG-GAT |
c.1741_1743delinsATC |
p.L581I |
Missense |
9/46 |
- |
1 |
16-2116100-G-C |
c.1741C>G |
p.L581V |
Missense |
9/46 |
- |
1 |
16-2116101-G-T |
c.1740C>A |
p.G580= |
Synonymous |
9/46 |
- |
1 |
16-2116103-C-A |
c.1738G>T |
p.G580C |
Missense |
9/46 |
- |
1 |
16-2116104-C-A |
c.1737G>T |
p.P579= |
Synonymous |
9/46 |
- |
1 |
16-2116104-C-G |
c.1737G>C |
p.P579= |
Synonymous |
9/46 |
- |
1 |
16-2116104-CG-AT |
c.1736_1737delinsAT |
p.P579H |
Missense |
9/46 |
- |
1 |
16-2116104-C-T |
c.1737G>A |
p.P579= |
Synonymous |
9/46 |
- |
1 |
16-2116105-G-A |
c.1736C>T |
p.P579L |
Missense |
9/46 |
- |
1 |
16-2116110-TAC-CAT |
c.1729_1731delinsATG |
p.V577M |
Missense |
9/46 |
- |
1 |
16-2116111-A-G |
c.1730T>C |
p.V577A |
Missense |
9/46 |
- |
1 |
16-2116115-T-C |
c.1726A>G |
p.M576V |
Missense |
9/46 |
- |
1 |
16-2116116-GAC-CAT |
c.1723_1725delinsATG |
p.V575M |
Missense |
9/46 |
- |
1 |
16-2116118-C-A |
c.1723G>T |
p.V575F |
Missense |
9/46 |
- |
1 |
16-2116471-G-C |
c.1722+58C>G |
- |
IntronicSNV |
- |
8/45 |
1 |
16-2116523-G-A |
c.1722+6C>T |
- |
IntronicSNV |
- |
8/45 |
1 |
16-2116527-A-G |
c.1722+2T>C |
- |
IntronicSNV |
- |
8/45 |
1 |
16-2116528-C-G |
c.1722+1G>C |
- |
IntronicSNV |
- |
8/45 |
1 |
16-2116529-C-A |
c.1722G>T |
p.E574D |
Missense |
8/46 |
- |
1 |
16-2116530-T-C |
c.1721A>G |
p.E574G |
Missense |
8/46 |
- |
1 |
16-2116534-C-A |
c.1717G>T |
p.V573L |
Missense |
8/46 |
- |
1 |
16-2116536-G-A |
c.1715C>T |
p.P572L |
Missense |
8/46 |
- |
1 |
16-2116537-G-A |
c.1714C>T |
p.P572S |
Missense |
8/46 |
- |
7 |
16-2116539-T-C |
c.1712A>G |
p.E571G |
Missense |
8/46 |
- |
1 |
16-2116540-C-T |
c.1711G>A |
p.E571K |
Missense |
8/46 |
- |
1 |
16-2116541-G-A |
c.1710C>T |
p.H570= |
Synonymous |
8/46 |
- |
5 |
16-2116541-G-T |
c.1710C>A |
p.H570Q |
Missense |
8/46 |
- |
1 |
16-2116543-G-A |
c.1708C>T |
p.H570Y |
Missense |
8/46 |
- |
1 |
16-2116543-G-C |
c.1708C>G |
p.H570D |
Missense |
8/46 |
- |
1 |
16-2116545-G-A |
c.1706C>T |
p.P569L |
Missense |
8/46 |
- |
1 |
16-2116549-C-T |
c.1702G>A |
p.A568T |
Missense |
8/46 |
- |
1 |
16-2116550-T-C |
c.1701A>G |
p.S567= |
Synonymous |
8/46 |
- |
1 |
16-2116550-TG-AC |
c.1700_1701delinsGT |
p.S567C |
Missense |
8/46 |
- |
1 |
16-2116550-TGA-GTT |
c.1699_1701delinsAAC |
p.S567N |
Missense |
8/46 |
- |
1 |
16-2116551-G-C |
c.1700C>G |
p.S567* |
Nonsense |
8/46 |
- |
1 |
16-2116551-G-T |
c.1700C>A |
p.S567* |
Nonsense |
8/46 |
- |
1 |
16-2116552-A-T |
c.1699T>A |
p.S567T |
Missense |
8/46 |
- |
1 |
16-2116558-C-G |
c.1693G>C |
p.G565R |
Missense |
8/46 |
- |
1 |
16-2116560-T-G |
c.1691A>C |
p.D564A |
Missense |
8/46 |
- |
2 |
16-2116563-CT-C |
c.1688del |
p.Q563Rfs*21 |
Frameshift |
8/46 |
- |
1 |
16-2116564-G-GCA |
c.1686_1687insTG |
p.Q563Cfs*22 |
Frameshift |
8/46 |
- |
1 |
16-2116567-G-C |
c.1684C>G |
p.Q562E |
Missense |
8/46 |
- |
1 |
16-2116569-G-A |
c.1682C>T |
p.A561V |
Missense |
8/46 |
- |
1 |
16-2116570-C-A |
c.1681G>T |
p.A561S |
Missense |
8/46 |
- |
1 |
16-2116573-G-C |
c.1678C>G |
p.L560V |
Missense |
8/46 |
- |
1 |
16-2116575-G-A |
c.1676C>T |
p.P559L |
Missense |
8/46 |
- |
1 |
16-2116576-G-C |
c.1675C>G |
p.P559A |
Missense |
8/46 |
- |
1 |
16-2116577-C-A |
c.1674G>T |
p.T558= |
Synonymous |
8/46 |
- |
1 |
16-2116577-C-G |
c.1674G>C |
p.T558= |
Synonymous |
8/46 |
- |
1 |
16-2116577-C-T |
c.1674G>A |
p.T558= |
Synonymous |
8/46 |
- |
1 |
16-2116578-G-A |
c.1673C>T |
p.T558M |
Missense |
8/46 |
- |
2 |
16-2116579-GT-G |
c.1672del |
p.T558Rfs*26 |
Frameshift |
8/46 |
- |
1 |
16-2116581-CA-C |
c.1670del |
p.L557Rfs*27 |
Frameshift |
8/46 |
- |
1 |
16-2116584-G-A |
c.1667C>T |
p.P556L |
Missense |
8/46 |
- |
1 |
16-2116581-AG-A |
c.1669del |
p.L557* |
Frameshift |
8/46 |
- |
1 |
16-2116585-G-A |
c.1666C>T |
p.P556S |
Missense |
8/46 |
- |
2 |
16-2116587-C-G |
c.1664G>C |
p.G555A |
Missense |
8/46 |
- |
1 |
16-2116593-A-C |
c.1658T>G |
p.L553R |
Missense |
8/46 |
- |
1 |
16-2116597-C-A |
c.1654G>T |
p.D552Y |
Missense |
8/46 |
- |
1 |
16-2116597-C-T |
c.1654G>A |
p.D552N |
Missense |
8/46 |
- |
1 |
16-2116598-CCC-GCT |
c.1651_1653delinsAGC |
p.G551S |
Missense |
8/46 |
- |
1 |
16-2116601-A-C |
c.1650T>G |
p.S550R |
Missense |
8/46 |
- |
1 |
16-2116601-A-G |
c.1650T>C |
p.S550= |
Synonymous |
8/46 |
- |
1 |
16-2116601-A-T |
c.1650T>A |
p.S550R |
Missense |
8/46 |
- |
1 |
16-2116603-T-G |
c.1648A>C |
p.S550R |
Missense |
8/46 |
- |
1 |
16-2116602-C-T |
c.1649G>A |
p.S550N |
Missense |
8/46 |
- |
1 |
16-2116602-CT-AA |
c.1648_1649delinsTT |
p.S550F |
Missense |
8/46 |
- |
1 |
16-2116603-T-C |
c.1648A>G |
p.S550G |
Missense |
8/46 |
- |
1 |
16-2116604-G-A |
c.1647C>T |
p.P549= |
Synonymous |
8/46 |
- |
2 |
16-2116604-G-C |
c.1647C>G |
p.P549= |
Synonymous |
8/46 |
- |
1 |
16-2116604-G-T |
c.1647C>A |
p.P549= |
Synonymous |
8/46 |
- |
1 |
16-2116605-G-A |
c.1646C>T |
p.P549L |
Missense |
8/46 |
- |
3 |
16-2116606-G-A |
c.1645C>T |
p.P549S |
Missense |
8/46 |
- |
1 |
16-2116608-G-A |
c.1643C>T |
p.A548V |
Missense |
8/46 |
- |
4 |
16-2116613-CAC-GAT |
c.1636_1638delinsATC |
p.V546I |
Missense |
8/46 |
- |
1 |
16-2116614-A-C |
c.1637T>G |
p.V546G |
Missense |
8/46 |
- |
2 |
16-2116616-G-A |
c.1635C>T |
p.L545= |
Synonymous |
8/46 |
- |
3 |
16-2116616-G-C |
c.1635C>G |
p.L545= |
Synonymous |
8/46 |
- |
1 |
16-2116616-G-T |
c.1635C>A |
p.L545= |
Synonymous |
8/46 |
- |
1 |
16-2116617-A-C |
c.1634T>G |
p.L545R |
Missense |
8/46 |
- |
1 |
16-2116621-G-A |
c.1630C>T |
p.L544F |
Missense |
8/46 |
- |
1 |
16-2116627-C-T |
c.1624G>A |
p.E542K |
Missense |
8/46 |
- |
1 |
16-2116628-G-A |
c.1623C>T |
p.A541= |
Synonymous |
8/46 |
- |
1 |
16-2116630-C-A |
c.1621G>T |
p.A541S |
Missense |
8/46 |
- |
1 |
16-2116630-C-G |
c.1621G>C |
p.A541P |
Missense |
8/46 |
- |
1 |
16-2116630-C-T |
c.1621G>A |
p.A541T |
Missense |
8/46 |
- |
1 |
16-2116632-T-G |
c.1619A>C |
p.D540A |
Missense |
8/46 |
- |
2 |
16-2116633-C-G |
c.1618G>C |
p.D540H |
Missense |
8/46 |
- |
1 |
16-2116639-C-T |
c.1612G>A |
p.V538M |
Missense |
8/46 |
- |
1 |
16-2116642-G-A |
c.1609C>T |
p.P537S |
Missense |
8/46 |
- |
1 |
16-2116644-C-A |
c.1607G>T |
p.G536V |
Missense |
8/46 |
- |
1 |
16-2116671-G-A |
c.1607-27C>T |
- |
IntronicSNV |
- |
7/45 |
2 |
16-2116741-C-A |
c.1606+92G>T |
- |
IntronicSNV |
- |
7/45 |
1 |
16-2116819-G-A |
c.1606+14C>T |
- |
IntronicSNV |
- |
7/45 |
1 |
16-2116832-C-G |
c.1606+1G>C |
- |
IntronicSNV |
- |
7/45 |
1 |
16-2116832-C-T |
c.1606+1G>A |
- |
IntronicSNV |
- |
7/45 |
1 |
16-2116833-C-T |
c.1606G>A |
p.G536S |
Missense |
7/46 |
- |
2 |
16-2116837-G-A |
c.1602C>T |
p.P534= |
Synonymous |
7/46 |
- |
1 |
16-2116838-G-A |
c.1601C>T |
p.P534L |
Missense |
7/46 |
- |
2 |
16-2116839-G-A |
c.1600C>T |
p.P534S |
Missense |
7/46 |
- |
1 |
16-2116840-C-A |
c.1599G>T |
p.Q533H |
Missense |
7/46 |
- |
1 |
16-2116840-C-G |
c.1599G>C |
p.Q533H |
Missense |
7/46 |
- |
1 |
16-2116841-T-C |
c.1598A>G |
p.Q533R |
Missense |
7/46 |
- |
1 |
16-2116842-G-A |
c.1597C>T |
p.Q533* |
Nonsense |
7/46 |
- |
4 |
16-2116842-G-T |
c.1597C>A |
p.Q533K |
Missense |
7/46 |
- |
1 |
16-2116845-G-A |
c.1594C>T |
p.L532= |
Synonymous |
7/46 |
- |
1 |
16-2116845-G-C |
c.1594C>G |
p.L532V |
Missense |
7/46 |
- |
1 |
16-2116847-T-A |
c.1592A>T |
p.E531V |
Missense |
7/46 |
- |
1 |
16-2116848-C-T |
c.1591G>A |
p.E531K |
Missense |
7/46 |
- |
2 |
16-2116850-C-T |
c.1589G>A |
p.C530Y |
Missense |
7/46 |
- |
2 |
16-2116853-A-G |
c.1586T>C |
p.V529A |
Missense |
7/46 |
- |
1 |
16-2116854-C-T |
c.1585G>A |
p.V529I |
Missense |
7/46 |
- |
1 |
16-2116855-G-A |
c.1584C>T |
p.Y528= |
Synonymous |
7/46 |
- |
1 |
16-2116855-G-GT |
c.1583dup |
p.Y528* |
Nonsense |
7/46 |
- |
1 |
16-2116856-T-C |
c.1583A>G |
p.Y528C |
Missense |
7/46 |
- |
12 |
16-2116859-C-T |
c.1580G>A |
p.S527N |
Missense |
7/46 |
- |
1 |
16-2116859-CT-AA |
c.1579_1580delinsTT |
p.S527F |
Missense |
7/46 |
- |
1 |
16-2116859-CT-AG |
c.1579_1580inv |
p.S527L |
Missense |
7/46 |
- |
1 |
16-2116862-T-A |
c.1577A>T |
p.H526L |
Missense |
7/46 |
- |
1 |
16-2116863-G-A |
c.1576C>T |
p.H526Y |
Missense |
7/46 |
- |
1 |
16-2116864-CG-AT |
c.1574_1575delinsAT |
p.P525H |
Missense |
7/46 |
- |
1 |
16-2116865-G-A |
c.1574C>T |
p.P525L |
Missense |
7/46 |
- |
2 |
16-2116865-G-C |
c.1574C>G |
p.P525R |
Missense |
7/46 |
- |
1 |
16-2116869-C-T |
c.1570G>A |
p.A524T |
Missense |
7/46 |
- |
2 |
16-2116870-TGA-GTT |
c.1567_1569delinsAAC |
p.S523N |
Missense |
7/46 |
- |
1 |
16-2116871-G-A |
c.1568C>T |
p.S523L |
Missense |
7/46 |
- |
1 |
16-2116871-GA-CC |
c.1567_1568delinsGG |
p.S523G |
Missense |
7/46 |
- |
1 |
16-2116871-G-C |
c.1568C>G |
p.S523* |
Nonsense |
7/46 |
- |
2 |
16-2116871-G-T |
c.1568C>A |
p.S523* |
Nonsense |
7/46 |
- |
1 |
16-2116873-G-C |
c.1566C>G |
p.C522W |
Missense |
7/46 |
- |
1 |
16-2116875-A-G |
c.1564T>C |
p.C522R |
Missense |
7/46 |
- |
1 |
16-2116878-G-A |
c.1561C>T |
p.L521= |
Synonymous |
7/46 |
- |
1 |
16-2116881-C-A |
c.1558G>T |
p.D520Y |
Missense |
7/46 |
- |
1 |
16-2116881-C-T |
c.1558G>A |
p.D520N |
Missense |
7/46 |
- |
4 |
16-2116883-G-A |
c.1556C>T |
p.T519I |
Missense |
7/46 |
- |
3 |
16-2116885-G-C |
c.1554C>G |
p.N518K |
Missense |
7/46 |
- |
1 |
16-2116889-C-T |
c.1550G>A |
p.C517Y |
Missense |
7/46 |
- |
2 |
16-2116891-C-T |
c.1548G>A |
p.W516* |
Nonsense |
7/46 |
- |
1 |
16-2116895-C-A |
c.1544G>T |
p.G515V |
Missense |
7/46 |
- |
1 |
16-2116896-C-A |
c.1543G>T |
p.G515W |
Missense |
7/46 |
- |
1 |
16-2116897-G-A |
c.1542C>T |
p.T514= |
Synonymous |
7/46 |
- |
1 |
16-2116897-G-C |
c.1542C>G |
p.T514= |
Synonymous |
7/46 |
- |
1 |
16-2116897-G-T |
c.1542C>A |
p.T514= |
Synonymous |
7/46 |
- |
1 |
16-2116901-G-A |
c.1538C>T |
p.P513L |
Missense |
7/46 |
- |
1 |
16-2116902-G-A |
c.1537C>T |
p.P513S |
Missense |
7/46 |
- |
1 |
16-2116903-CC-GT |
c.1535_1536delinsAC |
p.G512D |
Missense |
7/46 |
- |
1 |
16-2116906-G-GAT |
c.1532_1533insAT |
p.G512Sfs*47 |
Frameshift |
7/46 |
- |
1 |
16-2116910-C-A |
c.1529G>T |
p.R510L |
Missense |
7/46 |
- |
1 |
16-2116910-C-G |
c.1529G>C |
p.R510P |
Missense |
7/46 |
- |
1 |
16-2116911-G-A |
c.1528C>T |
p.R510W |
Missense |
7/46 |
- |
1 |
16-2116912-G-A |
c.1527C>T |
p.V509= |
Synonymous |
7/46 |
- |
1 |
16-2116912-GAC-CAT |
c.1525_1527delinsATG |
p.V509M |
Missense |
7/46 |
- |
1 |
16-2116914-C-A |
c.1525G>T |
p.V509F |
Missense |
7/46 |
- |
1 |
16-2116914-C-T |
c.1525G>A |
p.V509I |
Missense |
7/46 |
- |
1 |
16-2116915-G-A |
c.1524C>T |
p.C508= |
Synonymous |
7/46 |
- |
1 |
16-2116915-G-T |
c.1524C>A |
p.C508* |
Nonsense |
7/46 |
- |
2 |
16-2116916-C-A |
c.1523G>T |
p.C508F |
Missense |
7/46 |
- |
2 |
16-2116917-A-G |
c.1522T>C |
p.C508R |
Missense |
7/46 |
- |
4 |
16-2116918-G-C |
c.1521C>G |
p.H507Q |
Missense |
7/46 |
- |
1 |
16-2116918-G-T |
c.1521C>A |
p.H507Q |
Missense |
7/46 |
- |
1 |
16-2116921-C-A |
c.1518G>T |
p.E506D |
Missense |
7/46 |
- |
1 |
16-2116921-C-G |
c.1518G>C |
p.E506D |
Missense |
7/46 |
- |
1 |
16-2116926-C-A |
c.1513G>T |
p.A505S |
Missense |
7/46 |
- |
1 |
16-2116929-T-C |
c.1510A>G |
p.T504A |
Missense |
7/46 |
- |
1 |
16-2116931-G-T |
c.1508C>A |
p.A503D |
Missense |
7/46 |
- |
1 |
16-2116934-G-A |
c.1505C>T |
p.P502L |
Missense |
7/46 |
- |
1 |
16-2116935-G-T |
c.1504C>A |
p.P502T |
Missense |
7/46 |
- |
1 |
16-2116937-T-C |
c.1502A>G |
p.H501R |
Missense |
7/46 |
- |
1 |
16-2116937-T-G |
c.1502A>C |
p.H501P |
Missense |
7/46 |
- |
1 |
16-2116938-G-A |
c.1501C>T |
p.H501Y |
Missense |
7/46 |
- |
1 |
16-2116939-TG-T |
c.1499del |
p.P500Hfs*58 |
Frameshift |
7/46 |
- |
1 |
16-2116941-G-A |
c.1498C>T |
p.P500S |
Missense |
7/46 |
- |
1 |
16-2116941-G-GC |
c.1497dup |
p.P500Afs*19 |
Frameshift |
7/46 |
- |
1 |
16-2116944-C-A |
c.1495G>T |
p.E499* |
Nonsense |
7/46 |
- |
1 |
16-2116944-C-T |
c.1495G>A |
p.E499K |
Missense |
7/46 |
- |
1 |
16-2116945-C-A |
c.1494G>T |
p.G498= |
Synonymous |
7/46 |
- |
1 |
16-2116948-G-A |
c.1491C>T |
p.P497= |
Synonymous |
7/46 |
- |
1 |
16-2116948-G-C |
c.1491C>G |
p.P497= |
Synonymous |
7/46 |
- |
1 |
16-2116948-G-T |
c.1491C>A |
p.P497= |
Synonymous |
7/46 |
- |
1 |
16-2116949-G-C |
c.1490C>G |
p.P497R |
Missense |
7/46 |
- |
1 |
16-2116947-CG-C |
c.1491del |
p.E499Sfs*59 |
Frameshift |
7/46 |
- |
1 |
16-2116950-G-T |
c.1489C>A |
p.P497T |
Missense |
7/46 |
- |
1 |
16-2116951-CAG-AAA |
c.1486_1488delinsTTT |
p.L496F |
Missense |
7/46 |
- |
1 |
16-2116951-C-T |
c.1488G>A |
p.L496= |
Synonymous |
7/46 |
- |
1 |
16-2116952-A-C |
c.1487T>G |
p.L496R |
Missense |
7/46 |
- |
1 |
16-2116952-A-G |
c.1487T>C |
p.L496P |
Missense |
7/46 |
- |
1 |
16-2116953-G-A |
c.1486C>T |
p.L496= |
Synonymous |
7/46 |
- |
1 |
16-2116957-G-T |
c.1482C>A |
p.N494K |
Missense |
7/46 |
- |
2 |
16-2116961-T-C |
c.1478A>G |
p.Q493R |
Missense |
7/46 |
- |
1 |
16-2116962-G-A |
c.1477C>T |
p.Q493* |
Nonsense |
7/46 |
- |
1 |
16-2116963-G-A |
c.1476C>T |
p.C492= |
Synonymous |
7/46 |
- |
1 |
16-2116964-C-A |
c.1475G>T |
p.C492F |
Missense |
7/46 |
- |
1 |
16-2116964-C-T |
c.1475G>A |
p.C492Y |
Missense |
7/46 |
- |
2 |
16-2116967-C-T |
c.1472G>A |
p.S491N |
Missense |
7/46 |
- |
1 |
16-2116972-CAG-GAT |
c.1465_1467delinsATC |
p.L489I |
Missense |
7/46 |
- |
1 |
16-2116974-G-C |
c.1465C>G |
p.L489V |
Missense |
7/46 |
- |
1 |
16-2116975-G-C |
c.1464C>G |
p.S488R |
Missense |
7/46 |
- |
1 |
16-2116979-A-C |
c.1460T>G |
p.F487C |
Missense |
7/46 |
- |
1 |
16-2116983-C-A |
c.1456G>T |
p.A486S |
Missense |
7/46 |
- |
1 |
16-2116983-C-T |
c.1456G>A |
p.A486T |
Missense |
7/46 |
- |
1 |
16-2116984-C-T |
c.1455G>A |
p.E485= |
Synonymous |
7/46 |
- |
1 |
16-2116986-C-T |
c.1453G>A |
p.E485K |
Missense |
7/46 |
- |
1 |
16-2116988-C-T |
c.1451G>A |
p.G484D |
Missense |
7/46 |
- |
1 |
16-2116992-G-C |
c.1447C>G |
p.Q483E |
Missense |
7/46 |
- |
1 |
16-2116993-CG-AT |
c.1445_1446delinsAT |
p.P482H |
Missense |
7/46 |
- |
1 |
16-2116994-G-A |
c.1445C>T |
p.P482L |
Missense |
7/46 |
- |
1 |
16-2116995-G-A |
c.1444C>T |
p.P482S |
Missense |
7/46 |
- |
1 |
16-2116995-G-C |
c.1444C>G |
p.P482A |
Missense |
7/46 |
- |
1 |
16-2117000-G-A |
c.1439C>T |
p.P480L |
Missense |
7/46 |
- |
1 |
16-2117000-G-C |
c.1439C>G |
p.P480R |
Missense |
7/46 |
- |
1 |
16-2117001-G-A |
c.1438C>T |
p.P480S |
Missense |
7/46 |
- |
2 |
16-2117003-C-A |
c.1436G>T |
p.G479V |
Missense |
7/46 |
- |
1 |
16-2117007-C-A |
c.1432G>T |
p.V478L |
Missense |
7/46 |
- |
1 |
16-2117007-C-G |
c.1432G>C |
p.V478L |
Missense |
7/46 |
- |
1 |
16-2117010-C-A |
c.1429G>T |
p.E477* |
Nonsense |
7/46 |
- |
1 |
16-2117010-C-T |
c.1429G>A |
p.E477K |
Missense |
7/46 |
- |
1 |
16-2117012-A-G |
c.1427T>C |
p.V476A |
Missense |
7/46 |
- |
1 |
16-2117016-C-G |
c.1423G>C |
p.G475R |
Missense |
7/46 |
- |
1 |
16-2117016-C-T |
c.1423G>A |
p.G475R |
Missense |
7/46 |
- |
1 |
16-2117012-AC-A |
c.1426del |
p.V476Wfs*82 |
Frameshift |
7/46 |
- |
3 |
16-2117020-CAC-GAT |
c.1417_1419delinsATC |
p.V473I |
Missense |
7/46 |
- |
1 |
16-2117022-C-G |
c.1417G>C |
p.V473L |
Missense |
7/46 |
- |
1 |
16-2117022-C-T |
c.1417G>A |
p.V473M |
Missense |
7/46 |
- |
2 |
16-2117027-G-A |
c.1412C>T |
p.S471L |
Missense |
7/46 |
- |
1 |
16-2117027-GA-CC |
c.1411_1412delinsGG |
p.S471G |
Missense |
7/46 |
- |
1 |
16-2117029-G-A |
c.1410C>T |
p.F470= |
Synonymous |
7/46 |
- |
1 |
16-2117031-A-C |
c.1408T>G |
p.F470V |
Missense |
7/46 |
- |
1 |
16-2117034-C-G |
c.1405G>C |
p.G469R |
Missense |
7/46 |
- |
1 |
16-2117035-G-C |
c.1404C>G |
p.I468M |
Missense |
7/46 |
- |
1 |
16-2117036-A-G |
c.1403T>C |
p.I468T |
Missense |
7/46 |
- |
1 |
16-2117043-C-G |
c.1396G>C |
p.V466L |
Missense |
7/46 |
- |
1 |
16-2117043-C-T |
c.1396G>A |
p.V466M |
Missense |
7/46 |
- |
5 |
16-2117048-A-G |
c.1391T>C |
p.L464P |
Missense |
7/46 |
- |
1 |
16-2117049-G-A |
c.1390C>T |
p.L464= |
Synonymous |
7/46 |
- |
1 |
16-2117050-G-A |
c.1389C>T |
p.S463= |
Synonymous |
7/46 |
- |
1 |
16-2117051-C-T |
c.1388G>A |
p.S463N |
Missense |
7/46 |
- |
1 |
16-2117051-CT-AA |
c.1387_1388delinsTT |
p.S463F |
Missense |
7/46 |
- |
1 |
16-2117051-CT-GG |
c.1387_1388delinsCC |
p.S463P |
Missense |
7/46 |
- |
1 |
16-2117051-C-CT |
c.1387dup |
p.S463Kfs*56 |
SpliceAcceptorInsertion |
7/46 |
- |
1 |
16-2117052-T-TA |
c.1386_1387insT |
p.S463* |
SpliceAcceptorInsertion |
7/46 |
- |
1 |
16-2117052-T-TG |
c.1386_1387insC |
p.S463Qfs*56 |
SpliceAcceptorInsertion |
7/46 |
- |
1 |
16-2117463-G-A |
c.1385+26C>T |
- |
IntronicSNV |
- |
6/45 |
1 |
16-2117488-C-A |
c.1385+1G>T |
- |
IntronicSNV |
- |
6/45 |
1 |
16-2117489-C-A |
c.1385G>T |
p.R462M |
Missense |
6/46 |
- |
1 |
16-2117489-CT-GG |
c.1384_1385delinsCC |
p.R462P |
Missense |
6/46 |
- |
1 |
16-2117489-CT-TG |
c.1384_1385delinsCA |
p.R462Q |
Missense |
6/46 |
- |
1 |
16-2117489-C-CT |
c.1384dup |
p.R462Kfs*57 |
SpliceDonorInsertion |
6/46 |
- |
1 |
16-2117490-T-TA |
c.1383_1384insT |
p.R462* |
SpliceDonorInsertion |
6/46 |
- |
1 |
16-2117490-T-TC |
c.1383_1384insG |
p.R462Efs*57 |
SpliceDonorInsertion |
6/46 |
- |
1 |
16-2117491-GG-CA |
c.1382_1383delinsTG |
p.T461M |
Missense |
6/46 |
- |
1 |
16-2117490-T-TG |
c.1383dup |
p.R462Qfs*57 |
SpliceDonorInsertion |
6/46 |
- |
1 |
16-2117493-T-C |
c.1381A>G |
p.T461A |
Missense |
6/46 |
- |
1 |
16-2117494-G-A |
c.1380C>T |
p.V460= |
Synonymous |
6/46 |
- |
2 |
16-2117494-G-C |
c.1380C>G |
p.V460= |
Synonymous |
6/46 |
- |
1 |
16-2117494-G-T |
c.1380C>A |
p.V460= |
Synonymous |
6/46 |
- |
1 |
16-2117495-A-G |
c.1379T>C |
p.V460A |
Missense |
6/46 |
- |
1 |
16-2117497-CCG-ACA |
c.1375_1377delinsTGT |
p.R459C |
Missense |
6/46 |
- |
2 |
16-2117498-C-A |
c.1376G>T |
p.R459L |
Missense |
6/46 |
- |
1 |
16-2117498-C-G |
c.1376G>C |
p.R459P |
Missense |
6/46 |
- |
2 |
16-2117498-C-T |
c.1376G>A |
p.R459Q |
Missense |
6/46 |
- |
4 |
16-2117499-G-A |
c.1375C>T |
p.R459W |
Missense |
6/46 |
- |
3 |
16-2117501-G-A |
c.1373C>T |
p.S458F |
Missense |
6/46 |
- |
1 |
16-2117501-GA-TT |
c.1372_1373delinsAA |
p.S458N |
Missense |
6/46 |
- |
1 |
16-2117504-A-C |
c.1370T>G |
p.V457G |
Missense |
6/46 |
- |
1 |
16-2117505-C-T |
c.1369G>A |
p.V457I |
Missense |
6/46 |
- |
1 |
16-2117508-G-C |
c.1366C>G |
p.L456V |
Missense |
6/46 |
- |
1 |
16-2117510-A-G |
c.1364T>C |
p.F455S |
Missense |
6/46 |
- |
1 |
16-2117512-GCG-CCA |
c.1360_1362delinsTGG |
p.R454W |
Missense |
6/46 |
- |
1 |
16-2117513-C-G |
c.1361G>C |
p.R454P |
Missense |
6/46 |
- |
2 |
16-2117513-C-T |
c.1361G>A |
p.R454H |
Missense |
6/46 |
- |
2 |
16-2117514-G-A |
c.1360C>T |
p.R454C |
Missense |
6/46 |
- |
3 |
16-2117516-T-A |
c.1358A>T |
p.Q453L |
Missense |
6/46 |
- |
1 |
16-2117516-T-C |
c.1358A>G |
p.Q453R |
Missense |
6/46 |
- |
1 |
16-2117518-CAC-GAT |
c.1354_1356delinsATC |
p.V452I |
Missense |
6/46 |
- |
1 |
16-2117521-G-A |
c.1353C>T |
p.A451= |
Synonymous |
6/46 |
- |
2 |
16-2117523-C-T |
c.1351G>A |
p.A451T |
Missense |
6/46 |
- |
1 |
16-2117525-G-A |
c.1349C>T |
p.P450L |
Missense |
6/46 |
- |
1 |
16-2117525-G-T |
c.1349C>A |
p.P450H |
Missense |
6/46 |
- |
1 |
16-2117526-G-A |
c.1348C>T |
p.P450S |
Missense |
6/46 |
- |
5 |
16-2117528-CT-AG |
c.1345_1346inv |
p.S449L |
Missense |
6/46 |
- |
1 |
16-2117531-T-C |
c.1343A>G |
p.D448G |
Missense |
6/46 |
- |
1 |
16-2117531-T-G |
c.1343A>C |
p.D448A |
Missense |
6/46 |
- |
1 |
16-2117532-C-T |
c.1342G>A |
p.D448N |
Missense |
6/46 |
- |
1 |
16-2117540-G-A |
c.1334C>T |
p.A445V |
Missense |
6/46 |
- |
1 |
16-2117541-C-T |
c.1333G>A |
p.A445T |
Missense |
6/46 |
- |
1 |
16-2117543-A-G |
c.1331T>C |
p.L444P |
Missense |
6/46 |
- |
1 |
16-2117545-GG-CT |
c.1328_1329delinsAG |
p.A443E |
Missense |
6/46 |
- |
1 |
16-2117547-C-G |
c.1327G>C |
p.A443P |
Missense |
6/46 |
- |
1 |
16-2117547-C-T |
c.1327G>A |
p.A443T |
Missense |
6/46 |
- |
1 |
16-2117549-G-A |
c.1325C>T |
p.A442V |
Missense |
6/46 |
- |
1 |
16-2117549-G-T |
c.1325C>A |
p.A442D |
Missense |
6/46 |
- |
1 |
16-2117550-C-G |
c.1324G>C |
p.A442P |
Missense |
6/46 |
- |
2 |
16-2117551-C-T |
c.1323G>A |
p.G441= |
Synonymous |
6/46 |
- |
1 |
16-2117549-GC-G |
c.1324del |
p.A442Pfs*23 |
Frameshift |
6/46 |
- |
1 |
16-2117553-C-G |
c.1321G>C |
p.G441R |
Missense |
6/46 |
- |
1 |
16-2117553-C-T |
c.1321G>A |
p.G441R |
Missense |
6/46 |
- |
1 |
16-2117557-C-T |
c.1317G>A |
p.W439* |
Nonsense |
6/46 |
- |
2 |
16-2117558-C-T |
c.1316G>A |
p.W439* |
Nonsense |
6/46 |
- |
3 |
16-2117559-A-G |
c.1315T>C |
p.W439R |
Missense |
6/46 |
- |
1 |
16-2117561-G-A |
c.1313C>T |
p.A438V |
Missense |
6/46 |
- |
2 |
16-2117562-C-A |
c.1312G>T |
p.A438S |
Missense |
6/46 |
- |
1 |
16-2117564-T-C |
c.1310A>G |
p.Q437R |
Missense |
6/46 |
- |
1 |
16-2117565-G-A |
c.1309C>T |
p.Q437* |
Nonsense |
6/46 |
- |
1 |
16-2117565-G-C |
c.1309C>G |
p.Q437E |
Missense |
6/46 |
- |
1 |
16-2117567-C-A |
c.1307G>T |
p.C436F |
Missense |
6/46 |
- |
1 |
16-2117568-A-G |
c.1306T>C |
p.C436R |
Missense |
6/46 |
- |
2 |
16-2117569-C-A |
c.1305G>T |
p.Q435H |
Missense |
6/46 |
- |
1 |
16-2117569-C-G |
c.1305G>C |
p.Q435H |
Missense |
6/46 |
- |
1 |
16-2117570-T-C |
c.1304A>G |
p.Q435R |
Missense |
6/46 |
- |
1 |
16-2117571-G-A |
c.1303C>T |
p.Q435* |
Nonsense |
6/46 |
- |
1 |
16-2117571-G-C |
c.1303C>G |
p.Q435E |
Missense |
6/46 |
- |
1 |
16-2117571-G-T |
c.1303C>A |
p.Q435K |
Missense |
6/46 |
- |
1 |
16-2117572-C-T |
c.1302G>A |
p.E434= |
Synonymous |
6/46 |
- |
1 |
16-2117574-C-T |
c.1300G>A |
p.E434K |
Missense |
6/46 |
- |
1 |
16-2117577-G-A |
c.1297C>T |
p.Q433* |
Nonsense |
6/46 |
- |
2 |
16-2117577-G-C |
c.1297C>G |
p.Q433E |
Missense |
6/46 |
- |
1 |
16-2117578-GC-G |
c.1296del |
p.Q433Rfs*32 |
Frameshift |
6/46 |
- |
1 |
16-2117579-G-A |
c.1295C>T |
p.A432V |
Missense |
6/46 |
- |
7 |
16-2117581-C-G |
c.1293G>C |
p.Q431H |
Missense |
6/46 |
- |
1 |
16-2117582-CTGCAGCCAG-C |
c.1284_1292del |
p.W429_Q431del |
InFrameDeletion |
6/46 |
- |
1 |
16-2117583-G-A |
c.1291C>T |
p.Q431* |
Nonsense |
6/46 |
- |
2 |
16-2117585-A-C |
c.1289T>G |
p.L430R |
Missense |
6/46 |
- |
1 |
16-2117585-A-T |
c.1289T>A |
p.L430Q |
Missense |
6/46 |
- |
1 |
16-2117588-C-A |
c.1286G>T |
p.W429L |
Missense |
6/46 |
- |
2 |
16-2117588-C-G |
c.1286G>C |
p.W429S |
Missense |
6/46 |
- |
1 |
16-2117590-GGCC-G |
c.1281_1283del |
p.A428del |
InFrameDeletion |
6/46 |
- |
2 |
16-2117594-G-A |
c.1280C>T |
p.A427V |
Missense |
6/46 |
- |
2 |
16-2117595-C-T |
c.1279G>A |
p.A427T |
Missense |
6/46 |
- |
1 |
16-2117599-C-A |
c.1275G>T |
p.E425D |
Missense |
6/46 |
- |
1 |
16-2117599-C-G |
c.1275G>C |
p.E425D |
Missense |
6/46 |
- |
1 |
16-2117598-TCTC-T |
c.1273_1275del |
p.E425del |
InFrameDeletion |
6/46 |
- |
1 |
16-2117601-C-A |
c.1273G>T |
p.E425* |
Nonsense |
6/46 |
- |
1 |
16-2117601-C-G |
c.1273G>C |
p.E425Q |
Missense |
6/46 |
- |
1 |
16-2117601-C-T |
c.1273G>A |
p.E425K |
Missense |
6/46 |
- |
1 |
16-2117602-C-A |
c.1272G>T |
p.V424= |
Synonymous |
6/46 |
- |
1 |
16-2117602-CAC-GAT |
c.1270_1272delinsATC |
p.V424I |
Missense |
6/46 |
- |
1 |
16-2117602-C-G |
c.1272G>C |
p.V424= |
Synonymous |
6/46 |
- |
1 |
16-2117602-C-T |
c.1272G>A |
p.V424= |
Synonymous |
6/46 |
- |
1 |
16-2117606-A-C |
c.1268T>G |
p.V423G |
Missense |
6/46 |
- |
1 |
16-2117600-TCCA-T |
c.1271_1273del |
p.V424del |
InFrameDeletion |
6/46 |
- |
1 |
16-2117608-CAG-GAT |
c.1264_1266delinsATC |
p.L422I |
Missense |
6/46 |
- |
1 |
16-2117609-A-T |
c.1265T>A |
p.L422Q |
Missense |
6/46 |
- |
1 |
16-2117611-G-A |
c.1263C>T |
p.R421= |
Synonymous |
6/46 |
- |
1 |
16-2117611-G-C |
c.1263C>G |
p.R421= |
Synonymous |
6/46 |
- |
1 |
16-2117611-GCG-CAT |
c.1261_1263delinsATG |
p.R421M |
Missense |
6/46 |
- |
1 |
16-2117611-GC-TT |
c.1262_1263delinsAA |
p.R421Q |
Missense |
6/46 |
- |
1 |
16-2117611-G-T |
c.1263C>A |
p.R421= |
Synonymous |
6/46 |
- |
1 |
16-2117612-CG-AT |
c.1261_1262delinsAT |
p.R421I |
Missense |
6/46 |
- |
1 |
16-2117612-C-T |
c.1262G>A |
p.R421H |
Missense |
6/46 |
- |
1 |
16-2117613-G-A |
c.1261C>T |
p.R421C |
Missense |
6/46 |
- |
2 |
16-2117615-T-C |
c.1259A>G |
p.Y420C |
Missense |
6/46 |
- |
1 |
16-2117615-T-G |
c.1259A>C |
p.Y420S |
Missense |
6/46 |
- |
1 |
16-2117617-G-A |
c.1257C>T |
p.C419= |
Synonymous |
6/46 |
- |
2 |
16-2117618-C-A |
c.1256G>T |
p.C419F |
Missense |
6/46 |
- |
1 |
16-2117618-C-T |
c.1256G>A |
p.C419Y |
Missense |
6/46 |
- |
2 |
16-2117623-C-A |
c.1251G>T |
p.G417= |
Synonymous |
6/46 |
- |
1 |
16-2117623-C-G |
c.1251G>C |
p.G417= |
Synonymous |
6/46 |
- |
1 |
16-2117623-C-T |
c.1251G>A |
p.G417= |
Synonymous |
6/46 |
- |
1 |
16-2117624-C-G |
c.1250G>C |
p.G417A |
Missense |
6/46 |
- |
1 |
16-2117625-C-G |
c.1249G>C |
p.G417R |
Missense |
6/46 |
- |
1 |
16-2117625-C-T |
c.1249G>A |
p.G417R |
Missense |
6/46 |
- |
1 |
16-2117626-G-A |
c.1248C>T |
p.N416= |
Synonymous |
6/46 |
- |
1 |
16-2117627-T-G |
c.1247A>C |
p.N416T |
Missense |
6/46 |
- |
1 |
16-2117630-C-T |
c.1244G>A |
p.G415D |
Missense |
6/46 |
- |
1 |
16-2117631-CCAGG-C |
c.1240_1243del |
p.P414Afs*50 |
Frameshift |
6/46 |
- |
1 |
16-2117631-C-G |
c.1243G>C |
p.G415R |
Missense |
6/46 |
- |
1 |
16-2117631-C-T |
c.1243G>A |
p.G415S |
Missense |
6/46 |
- |
1 |
16-2117632-A-C |
c.1242T>G |
p.P414= |
Synonymous |
6/46 |
- |
1 |
16-2117632-A-G |
c.1242T>C |
p.P414= |
Synonymous |
6/46 |
- |
1 |
16-2117632-A-T |
c.1242T>A |
p.P414= |
Synonymous |
6/46 |
- |
1 |
16-2117633-G-A |
c.1241C>T |
p.P414L |
Missense |
6/46 |
- |
2 |
16-2117634-G-A |
c.1240C>T |
p.P414S |
Missense |
6/46 |
- |
2 |
16-2117634-G-T |
c.1240C>A |
p.P414T |
Missense |
6/46 |
- |
1 |
16-2117632-AG-A |
c.1241del |
p.P414Lfs*51 |
Frameshift |
6/46 |
- |
1 |
16-2117636-A-C |
c.1238T>G |
p.F413C |
Missense |
6/46 |
- |
1 |
16-2117637-A-C |
c.1237T>G |
p.F413V |
Missense |
6/46 |
- |
1 |
16-2117640-T-C |
c.1234A>G |
p.I412V |
Missense |
6/46 |
- |
1 |
16-2117641-C-A |
c.1233G>T |
p.E411D |
Missense |
6/46 |
- |
1 |
16-2117641-C-G |
c.1233G>C |
p.E411D |
Missense |
6/46 |
- |
1 |
16-2117643-C-T |
c.1231G>A |
p.E411K |
Missense |
6/46 |
- |
1 |
16-2117644-C-A |
c.1230G>T |
p.T410= |
Synonymous |
6/46 |
- |
1 |
16-2117645-G-A |
c.1229C>T |
p.T410M |
Missense |
6/46 |
- |
1 |
16-2117646-T-C |
c.1228A>G |
p.T410A |
Missense |
6/46 |
- |
1 |
16-2117649-C-A |
c.1225G>T |
p.D409Y |
Missense |
6/46 |
- |
1 |
16-2117649-C-T |
c.1225G>A |
p.D409N |
Missense |
6/46 |
- |
1 |
16-2117650-CGA-GTT |
c.1222_1224delinsAAC |
p.S408N |
Missense |
6/46 |
- |
1 |
16-2117650-C-T |
c.1224G>A |
p.S408= |
Synonymous |
6/46 |
- |
1 |
16-2117653-G-A |
c.1221C>T |
p.P407= |
Synonymous |
6/46 |
- |
3 |
16-2117653-GG-TT |
c.1220_1221delinsAA |
p.P407Q |
Missense |
6/46 |
- |
1 |
16-2117654-G-T |
c.1220C>A |
p.P407H |
Missense |
6/46 |
- |
1 |
16-2117655-G-A |
c.1219C>T |
p.P407S |
Missense |
6/46 |
- |
1 |
16-2117652-AG-A |
c.1221del |
p.S408Rfs*57 |
Frameshift |
6/46 |
- |
1 |
16-2117656-G-T |
c.1218C>A |
p.C406* |
Nonsense |
6/46 |
- |
1 |
16-2117657-CA-GT |
c.1216_1217delinsAC |
p.C406T |
Missense |
6/46 |
- |
1 |
16-2117658-A-C |
c.1216T>G |
p.C406G |
Missense |
6/46 |
- |
1 |
16-2117658-A-G |
c.1216T>C |
p.C406R |
Missense |
6/46 |
- |
1 |
16-2117659-G-A |
c.1215C>T |
p.L405= |
Synonymous |
6/46 |
- |
3 |
16-2117659-G-C |
c.1215C>G |
p.L405= |
Synonymous |
6/46 |
- |
2 |
16-2117659-G-T |
c.1215C>A |
p.L405= |
Synonymous |
6/46 |
- |
2 |
16-2117660-A-C |
c.1214T>G |
p.L405R |
Missense |
6/46 |
- |
1 |
16-2117663-G-C |
c.1211C>G |
p.P404R |
Missense |
6/46 |
- |
2 |
16-2117663-GG-CA |
c.1210_1211delinsTG |
p.P404W |
Missense |
6/46 |
- |
1 |
16-2117665-G-A |
c.1209C>T |
p.H403= |
Synonymous |
6/46 |
- |
1 |
16-2117667-G-A |
c.1207C>T |
p.H403Y |
Missense |
6/46 |
- |
1 |
16-2117667-G-T |
c.1207C>A |
p.H403N |
Missense |
6/46 |
- |
1 |
16-2117670-C-T |
c.1204G>A |
p.V402M |
Missense |
6/46 |
- |
1 |
16-2117671-C-T |
c.1203G>A |
p.A401= |
Synonymous |
6/46 |
- |
2 |
16-2117672-G-T |
c.1202C>A |
p.A401E |
Missense |
6/46 |
- |
1 |
16-2117789-A-G |
c.1201+2T>C |
- |
IntronicSNV |
- |
5/45 |
1 |
16-2117790-C-T |
c.1201+1G>A |
- |
IntronicSNV |
- |
5/45 |
1 |
16-2117792-TC-AT |
c.1199_1200delinsAT |
p.R400H |
Missense |
5/46 |
- |
1 |
16-2117792-TCG-ACA |
c.1198_1200delinsTGT |
p.R400C |
Missense |
5/46 |
- |
2 |
16-2117793-C-A |
c.1199G>T |
p.R400L |
Missense |
5/46 |
- |
1 |
16-2117793-CG-AT |
c.1198_1199delinsAT |
p.R400I |
Missense |
5/46 |
- |
1 |
16-2117793-CG-TT |
c.1198_1199delinsAA |
p.R400K |
Missense |
5/46 |
- |
1 |
16-2117793-C-T |
c.1199G>A |
p.R400Q |
Missense |
5/46 |
- |
1 |
16-2117794-G-A |
c.1198C>T |
p.R400* |
Nonsense |
5/46 |
- |
5 |
16-2117796-G-A |
c.1196C>T |
p.A399V |
Missense |
5/46 |
- |
1 |
16-2117797-C-G |
c.1195G>C |
p.A399P |
Missense |
5/46 |
- |
1 |
16-2117797-C-T |
c.1195G>A |
p.A399T |
Missense |
5/46 |
- |
1 |
16-2117799-G-A |
c.1193C>T |
p.P398L |
Missense |
5/46 |
- |
1 |
16-2117799-G-C |
c.1193C>G |
p.P398R |
Missense |
5/46 |
- |
1 |
16-2117800-G-A |
c.1192C>T |
p.P398S |
Missense |
5/46 |
- |
1 |
16-2117807-G-A |
c.1185C>T |
p.G395= |
Synonymous |
5/46 |
- |
1 |
16-2117807-G-C |
c.1185C>G |
p.G395= |
Synonymous |
5/46 |
- |
1 |
16-2117807-G-T |
c.1185C>A |
p.G395= |
Synonymous |
5/46 |
- |
1 |
16-2117809-C-T |
c.1183G>A |
p.G395S |
Missense |
5/46 |
- |
1 |
16-2117810-C-A |
c.1182G>T |
p.L394= |
Synonymous |
5/46 |
- |
1 |
16-2117810-C-G |
c.1182G>C |
p.L394= |
Synonymous |
5/46 |
- |
1 |
16-2117810-C-T |
c.1182G>A |
p.L394= |
Synonymous |
5/46 |
- |
1 |
16-2117811-A-T |
c.1181T>A |
p.L394Q |
Missense |
5/46 |
- |
1 |
16-2117812-G-A |
c.1180C>T |
p.L394= |
Synonymous |
5/46 |
- |
2 |
16-2117811-A-AG |
c.1180dup |
p.L394Pfs*125 |
Frameshift |
5/46 |
- |
1 |
16-2117819-G-A |
c.1173C>T |
p.I391= |
Synonymous |
5/46 |
- |
1 |
16-2117823-C-T |
c.1169G>A |
p.S390N |
Missense |
5/46 |
- |
2 |
16-2117824-T-A |
c.1168A>T |
p.S390C |
Missense |
5/46 |
- |
1 |
16-2117826-T-G |
c.1166A>C |
p.Y389S |
Missense |
5/46 |
- |
1 |
16-2117827-A-G |
c.1165T>C |
p.Y389H |
Missense |
5/46 |
- |
1 |
16-2117829-G-A |
c.1163C>T |
p.A388V |
Missense |
5/46 |
- |
1 |
16-2117831-G-A |
c.1161C>T |
p.A387= |
Synonymous |
5/46 |
- |
1 |
16-2117831-G-C |
c.1161C>G |
p.A387= |
Synonymous |
5/46 |
- |
1 |
16-2117831-G-T |
c.1161C>A |
p.A387= |
Synonymous |
5/46 |
- |
1 |
16-2117834-C-T |
c.1158G>A |
p.E386= |
Synonymous |
5/46 |
- |
1 |
16-2117836-C-T |
c.1156G>A |
p.E386K |
Missense |
5/46 |
- |
1 |
16-2117837-C-G |
c.1155G>C |
p.L385= |
Synonymous |
5/46 |
- |
1 |
16-2117841-C-G |
c.1151G>C |
p.G384A |
Missense |
5/46 |
- |
1 |
16-2117841-C-T |
c.1151G>A |
p.G384D |
Missense |
5/46 |
- |
1 |
16-2117842-C-G |
c.1150G>C |
p.G384R |
Missense |
5/46 |
- |
1 |
16-2117842-C-T |
c.1150G>A |
p.G384S |
Missense |
5/46 |
- |
1 |
16-2117844-GA-CT |
c.1147_1148delinsAG |
p.S383R |
Missense |
5/46 |
- |
1 |
16-2117844-G-T |
c.1148C>A |
p.S383* |
Nonsense |
5/46 |
- |
1 |
16-2117845-A-C |
c.1147T>G |
p.S383A |
Missense |
5/46 |
- |
1 |
16-2117845-A-G |
c.1147T>C |
p.S383P |
Missense |
5/46 |
- |
1 |
16-2117846-AC-CT |
c.1145_1146delinsAG |
p.G382E |
Missense |
5/46 |
- |
1 |
16-2117847-C-T |
c.1145G>A |
p.G382D |
Missense |
5/46 |
- |
2 |
16-2117848-C-A |
c.1144G>T |
p.G382C |
Missense |
5/46 |
- |
1 |
16-2117848-C-G |
c.1144G>C |
p.G382R |
Missense |
5/46 |
- |
1 |
16-2117848-C-T |
c.1144G>A |
p.G382S |
Missense |
5/46 |
- |
1 |
16-2117851-C-A |
c.1141G>T |
p.G381C |
Missense |
5/46 |
- |
3 |
16-2117851-C-T |
c.1141G>A |
p.G381S |
Missense |
5/46 |
- |
4 |
16-2117852-GCG-CCA |
c.1138_1140delinsTGG |
p.R380W |
Missense |
5/46 |
- |
1 |
16-2117852-GC-TT |
c.1139_1140delinsAA |
p.R380Q |
Missense |
5/46 |
- |
1 |
16-2117854-G-A |
c.1138C>T |
p.R380C |
Missense |
5/46 |
- |
3 |
16-2117853-CG-C |
c.1138del |
p.R380Afs*85 |
Frameshift |
5/46 |
- |
1 |
16-2117855-G-C |
c.1137C>G |
p.N379K |
Missense |
5/46 |
- |
1 |
16-2117858-C-A |
c.1134G>T |
p.Q378H |
Missense |
5/46 |
- |
1 |
16-2117858-C-G |
c.1134G>C |
p.Q378H |
Missense |
5/46 |
- |
1 |
16-2117863-T-G |
c.1129A>C |
p.I377L |
Missense |
5/46 |
- |
1 |
16-2117864-G-A |
c.1128C>T |
p.S376= |
Synonymous |
5/46 |
- |
1 |
16-2117865-C-G |
c.1127G>C |
p.S376T |
Missense |
5/46 |
- |
1 |
16-2117865-C-T |
c.1127G>A |
p.S376N |
Missense |
5/46 |
- |
1 |
16-2117865-CT-GC |
c.1126_1127delinsGC |
p.S376A |
Missense |
5/46 |
- |
1 |
16-2117865-CT-GG |
c.1126_1127delinsCC |
p.S376P |
Missense |
5/46 |
- |
1 |
16-2117869-G-T |
c.1123C>A |
p.L375I |
Missense |
5/46 |
- |
2 |
16-2117873-G-A |
c.1119C>T |
p.L373= |
Synonymous |
5/46 |
- |
15 |
16-2117873-G-C |
c.1119C>G |
p.L373= |
Synonymous |
5/46 |
- |
15 |
16-2117873-G-T |
c.1119C>A |
p.L373= |
Synonymous |
5/46 |
- |
13 |
16-2117875-G-A |
c.1117C>T |
p.L373F |
Missense |
5/46 |
- |
1 |
16-2117876-G-A |
c.1116C>T |
p.S372= |
Synonymous |
5/46 |
- |
1 |
16-2117876-G-C |
c.1116C>G |
p.S372R |
Missense |
5/46 |
- |
1 |
16-2117876-G-T |
c.1116C>A |
p.S372R |
Missense |
5/46 |
- |
1 |
16-2117878-T-G |
c.1114A>C |
p.S372R |
Missense |
5/46 |
- |
1 |
16-2117877-C-T |
c.1115G>A |
p.S372N |
Missense |
5/46 |
- |
1 |
16-2117878-T-A |
c.1114A>T |
p.S372C |
Missense |
5/46 |
- |
1 |
16-2117880-TCGTCACTCTGCACCGAGGACGGGCACA-T |
c.1085_1111del |
p.V362_D370del |
InFrameDeletion |
5/46 |
- |
1 |
16-2117886-C-T |
c.1106G>A |
p.S369N |
Missense |
5/46 |
- |
1 |
16-2117887-T-G |
c.1105A>C |
p.S369R |
Missense |
5/46 |
- |
1 |
16-2117890-G-C |
c.1102C>G |
p.Q368E |
Missense |
5/46 |
- |
1 |
16-2117893-C-T |
c.1099G>A |
p.V367M |
Missense |
5/46 |
- |
1 |
16-2117895-G-C |
c.1097C>G |
p.S366W |
Missense |
5/46 |
- |
1 |
16-2117898-GA-AG |
c.1093_1094delinsCT |
p.S365L |
Missense |
5/46 |
- |
1 |
16-2117898-GA-AT |
c.1093_1094delinsAT |
p.S365I |
Missense |
5/46 |
- |
1 |
16-2117900-C-T |
c.1092G>A |
p.P364= |
Synonymous |
5/46 |
- |
1 |
16-2117901-G-T |
c.1091C>A |
p.P364Q |
Missense |
5/46 |
- |
1 |
16-2117902-G-A |
c.1090C>T |
p.P364S |
Missense |
5/46 |
- |
1 |
16-2117906-CAC-GAT |
c.1084_1086delinsATC |
p.V362I |
Missense |
5/46 |
- |
1 |
16-2117906-C-T |
c.1086G>A |
p.V362= |
Synonymous |
5/46 |
- |
1 |
16-2117908-C-T |
c.1084G>A |
p.V362M |
Missense |
5/46 |
- |
1 |
16-2117914-C-G |
c.1078G>C |
p.E360Q |
Missense |
5/46 |
- |
1 |
16-2117917-G-C |
c.1075C>G |
p.L359V |
Missense |
5/46 |
- |
1 |
16-2117916-AG-A |
c.1075del |
p.L359Wfs*106 |
Frameshift |
5/46 |
- |
1 |
16-2117919-G-GA |
c.1072_1073insT |
p.A358Vfs*13 |
Frameshift |
5/46 |
- |
1 |
16-2117920-C-T |
c.1072G>A |
p.A358T |
Missense |
5/46 |
- |
1 |
16-2117922-G-A |
c.1070C>T |
p.A357V |
Missense |
5/46 |
- |
1 |
16-2117923-C-A |
c.1069G>T |
p.A357S |
Missense |
5/46 |
- |
1 |
16-2117926-G-A |
c.1066C>T |
p.P356S |
Missense |
5/46 |
- |
1 |
16-2117927-T-A |
c.1065A>T |
p.A355= |
Synonymous |
5/46 |
- |
1 |
16-2117927-T-C |
c.1065A>G |
p.A355= |
Synonymous |
5/46 |
- |
1 |
16-2117927-T-G |
c.1065A>C |
p.A355= |
Synonymous |
5/46 |
- |
1 |
16-2117929-C-A |
c.1063G>T |
p.A355S |
Missense |
5/46 |
- |
3 |
16-2117929-C-G |
c.1063G>C |
p.A355P |
Missense |
5/46 |
- |
1 |
16-2117930-C-A |
c.1062G>T |
p.A354= |
Synonymous |
5/46 |
- |
1 |
16-2117930-C-G |
c.1062G>C |
p.A354= |
Synonymous |
5/46 |
- |
1 |
16-2117930-C-T |
c.1062G>A |
p.A354= |
Synonymous |
5/46 |
- |
1 |
16-2117931-G-A |
c.1061C>T |
p.A354V |
Missense |
5/46 |
- |
1 |
16-2117932-C-A |
c.1060G>T |
p.A354S |
Missense |
5/46 |
- |
1 |
16-2117933-T-A |
c.1059A>T |
p.E353D |
Missense |
5/46 |
- |
1 |
16-2117933-T-G |
c.1059A>C |
p.E353D |
Missense |
5/46 |
- |
1 |
16-2117944-C-T |
c.1048G>A |
p.V350M |
Missense |
5/46 |
- |
1 |
16-2117947-C-A |
c.1045G>T |
p.D349Y |
Missense |
5/46 |
- |
1 |
16-2117947-C-G |
c.1045G>C |
p.D349H |
Missense |
5/46 |
- |
1 |
16-2117948-TG-GT |
c.1043_1044delinsAC |
p.T348N |
Missense |
5/46 |
- |
1 |
16-2117951-CCC-GCT |
c.1039_1041delinsAGC |
p.G347S |
Missense |
5/46 |
- |
1 |
16-2117952-C-T |
c.1040G>A |
p.G347E |
Missense |
5/46 |
- |
1 |
16-2117952-CCCAGCAGGGCTGAGCCGGCCCCCAGGG-C |
c.1013_1039del |
p.A338_L346del |
InFrameDeletion |
5/46 |
- |
1 |
16-2117960-G-A |
c.1032C>T |
p.A344= |
Synonymous |
5/46 |
- |
2 |
16-2117960-G-C |
c.1032C>G |
p.A344= |
Synonymous |
5/46 |
- |
2 |
16-2117960-G-T |
c.1032C>A |
p.A344= |
Synonymous |
5/46 |
- |
2 |
16-2117961-G-A |
c.1031C>T |
p.A344V |
Missense |
5/46 |
- |
1 |
16-2117962-C-T |
c.1030G>A |
p.A344T |
Missense |
5/46 |
- |
2 |
16-2117963-TG-AC |
c.1028_1029delinsGT |
p.S343C |
Missense |
5/46 |
- |
1 |
16-2117964-G-A |
c.1028C>T |
p.S343L |
Missense |
5/46 |
- |
1 |
16-2117964-GA-CC |
c.1027_1028delinsGG |
p.S343G |
Missense |
5/46 |
- |
1 |
16-2117967-C-A |
c.1025G>T |
p.G342V |
Missense |
5/46 |
- |
1 |
16-2117969-G-A |
c.1023C>T |
p.A341= |
Synonymous |
5/46 |
- |
7 |
16-2117971-C-T |
c.1021G>A |
p.A341T |
Missense |
5/46 |
- |
2 |
16-2117972-CC-GT |
c.1019_1020delinsAC |
p.G340D |
Missense |
5/46 |
- |
1 |
16-2117972-C-T |
c.1020G>A |
p.G340= |
Synonymous |
5/46 |
- |
1 |
16-2117973-C-G |
c.1019G>C |
p.G340A |
Missense |
5/46 |
- |
1 |
16-2117974-C-G |
c.1018G>C |
p.G340R |
Missense |
5/46 |
- |
1 |
16-2117974-C-T |
c.1018G>A |
p.G340R |
Missense |
5/46 |
- |
1 |
16-2117970-GC-G |
c.1021del |
p.A341Pfs*124 |
Frameshift |
5/46 |
- |
1 |
16-2117975-CAG-AAA |
c.1015_1017delinsTTT |
p.L339F |
Missense |
5/46 |
- |
1 |
16-2117976-A-G |
c.1016T>C |
p.L339P |
Missense |
5/46 |
- |
1 |
16-2117977-G-A |
c.1015C>T |
p.L339= |
Synonymous |
5/46 |
- |
4 |
16-2117978-G-A |
c.1014C>T |
p.A338= |
Synonymous |
5/46 |
- |
1 |
16-2117980-C-A |
c.1012G>T |
p.A338S |
Missense |
5/46 |
- |
2 |
16-2117980-C-T |
c.1012G>A |
p.A338T |
Missense |
5/46 |
- |
1 |
16-2117981-C-G |
c.1011G>C |
p.L337= |
Synonymous |
5/46 |
- |
1 |
16-2117982-A-C |
c.1010T>G |
p.L337R |
Missense |
5/46 |
- |
1 |
16-2117983-G-C |
c.1009C>G |
p.L337V |
Missense |
5/46 |
- |
2 |
16-2117984-C-G |
c.1008G>C |
p.V336= |
Synonymous |
5/46 |
- |
1 |
16-2117986-CG-C |
c.1005del |
p.V336Cfs*129 |
Frameshift |
5/46 |
- |
1 |
16-2117988-G-A |
c.1004C>T |
p.A335V |
Missense |
5/46 |
- |
1 |
16-2117989-C-G |
c.1003G>C |
p.A335P |
Missense |
5/46 |
- |
1 |
16-2117989-C-T |
c.1003G>A |
p.A335T |
Missense |
5/46 |
- |
1 |
16-2117992-T-G |
c.1000A>C |
p.T334P |
Missense |
5/46 |
- |
1 |
16-2117996-G-A |
c.996C>T |
p.H332= |
Synonymous |
5/46 |
- |
1 |
16-2117997-T-C |
c.995A>G |
p.H332R |
Missense |
5/46 |
- |
1 |
16-2117998-G-A |
c.994C>T |
p.H332Y |
Missense |
5/46 |
- |
2 |
16-2117999-A-T |
c.993T>A |
p.Y331* |
Nonsense |
5/46 |
- |
1 |
16-2118000-T-C |
c.992A>G |
p.Y331C |
Missense |
5/46 |
- |
1 |
16-2118001-A-G |
c.991T>C |
p.Y331H |
Missense |
5/46 |
- |
1 |
16-2118001-A-T |
c.991T>A |
p.Y331N |
Missense |
5/46 |
- |
1 |
16-2118002-G-A |
c.990C>T |
p.R330= |
Synonymous |
5/46 |
- |
1 |
16-2118002-GCG-CCA |
c.988_990delinsTGG |
p.R330W |
Missense |
5/46 |
- |
1 |
16-2118002-GC-TT |
c.989_990delinsAA |
p.R330Q |
Missense |
5/46 |
- |
1 |
16-2118003-C-A |
c.989G>T |
p.R330L |
Missense |
5/46 |
- |
1 |
16-2118003-C-T |
c.989G>A |
p.R330H |
Missense |
5/46 |
- |
1 |
16-2118004-G-A |
c.988C>T |
p.R330C |
Missense |
5/46 |
- |
1 |
16-2118005-CCC-GCT |
c.985_987delinsAGC |
p.G329S |
Missense |
5/46 |
- |
1 |
16-2118005-C-T |
c.987G>A |
p.G329= |
Synonymous |
5/46 |
- |
1 |
16-2118006-C-G |
c.986G>C |
p.G329A |
Missense |
5/46 |
- |
1 |
16-2118006-C-T |
c.986G>A |
p.G329E |
Missense |
5/46 |
- |
1 |
16-2118007-C-G |
c.985G>C |
p.G329R |
Missense |
5/46 |
- |
1 |
16-2118007-C-T |
c.985G>A |
p.G329R |
Missense |
5/46 |
- |
1 |
16-2118010-G-A |
c.982C>T |
p.P328S |
Missense |
5/46 |
- |
1 |
16-2118015-A-C |
c.977T>G |
p.V326G |
Missense |
5/46 |
- |
1 |
16-2118016-C-A |
c.976G>T |
p.V326L |
Missense |
5/46 |
- |
1 |
16-2118016-C-G |
c.976G>C |
p.V326L |
Missense |
5/46 |
- |
1 |
16-2118016-C-T |
c.976G>A |
p.V326M |
Missense |
5/46 |
- |
1 |
16-2118017-A-C |
c.975T>G |
p.Y325* |
Nonsense |
5/46 |
- |
1 |
16-2118018-T-A |
c.974A>T |
p.Y325F |
Missense |
5/46 |
- |
1 |
16-2118018-T-C |
c.974A>G |
p.Y325C |
Missense |
5/46 |
- |
6 |
16-2118021-C-A |
c.971G>T |
p.R324L |
Missense |
5/46 |
- |
10 |
16-2118021-C-T |
c.971G>A |
p.R324H |
Missense |
5/46 |
- |
5 |
16-2118022-G-A |
c.970C>T |
p.R324C |
Missense |
5/46 |
- |
4 |
16-2118026-CGA-GAT |
c.964_966delinsATC |
p.S322I |
Missense |
5/46 |
- |
1 |
16-2118027-G-A |
c.965C>T |
p.S322L |
Missense |
5/46 |
- |
1 |
16-2118028-A-G |
c.964T>C |
p.S322P |
Missense |
5/46 |
- |
2 |
16-2118031-C-A |
c.961G>T |
p.A321S |
Missense |
5/46 |
- |
1 |
16-2118031-C-G |
c.961G>C |
p.A321P |
Missense |
5/46 |
- |
1 |
16-2118033-G-C |
c.959C>G |
p.A320G |
Missense |
5/46 |
- |
1 |
16-2118034-C-A |
c.958G>T |
p.A320S |
Missense |
5/46 |
- |
1 |
16-2118034-C-T |
c.958G>A |
p.A320T |
Missense |
5/46 |
- |
3 |
16-2118035-C-A |
c.957G>T |
p.P319= |
Synonymous |
5/46 |
- |
2 |
16-2118035-C-G |
c.957G>C |
p.P319= |
Synonymous |
5/46 |
- |
1 |
16-2118035-C-T |
c.957G>A |
p.P319= |
Synonymous |
5/46 |
- |
1 |
16-2118036-G-A |
c.956C>T |
p.P319L |
Missense |
5/46 |
- |
2 |
16-2118039-C-T |
c.953G>A |
p.G318E |
Missense |
5/46 |
- |
1 |
16-2118040-C-G |
c.952G>C |
p.G318R |
Missense |
5/46 |
- |
1 |
16-2118040-C-T |
c.952G>A |
p.G318R |
Missense |
5/46 |
- |
1 |
16-2118041-A-C |
c.951T>G |
p.A317= |
Synonymous |
5/46 |
- |
1 |
16-2118041-A-G |
c.951T>C |
p.A317= |
Synonymous |
5/46 |
- |
1 |
16-2118041-A-T |
c.951T>A |
p.A317= |
Synonymous |
5/46 |
- |
1 |
16-2118043-CG-C |
c.948del |
p.A317Lfs*17 |
Frameshift |
5/46 |
- |
1 |
16-2118045-G-A |
c.947C>T |
p.A316V |
Missense |
5/46 |
- |
3 |
16-2118048-T-G |
c.944A>C |
p.D315A |
Missense |
5/46 |
- |
1 |
16-2118049-C-A |
c.943G>T |
p.D315Y |
Missense |
5/46 |
- |
1 |
16-2118052-C-T |
c.940G>A |
p.V314M |
Missense |
5/46 |
- |
1 |
16-2118054-T-G |
c.938A>C |
p.E313A |
Missense |
5/46 |
- |
1 |
16-2118055-C-A |
c.937G>T |
p.E313* |
Nonsense |
5/46 |
- |
4 |
16-2118055-C-T |
c.937G>A |
p.E313K |
Missense |
5/46 |
- |
1 |
16-2118052-CCTCGGCGGAGCCGT-C |
c.926_939del |
p.D309Gfs*57 |
Frameshift |
5/46 |
- |
1 |
16-2118056-G-A |
c.936C>T |
p.A312= |
Synonymous |
5/46 |
- |
1 |
16-2118056-G-C |
c.936C>G |
p.A312= |
Synonymous |
5/46 |
- |
1 |
16-2118056-G-T |
c.936C>A |
p.A312= |
Synonymous |
5/46 |
- |
1 |
16-2118057-G-A |
c.935C>T |
p.A312V |
Missense |
5/46 |
- |
1 |
16-2118058-C-G |
c.934G>C |
p.A312P |
Missense |
5/46 |
- |
1 |
16-2118058-C-T |
c.934G>A |
p.A312T |
Missense |
5/46 |
- |
4 |
16-2118062-G-A |
c.930C>T |
p.G310= |
Synonymous |
5/46 |
- |
1 |
16-2118062-G-T |
c.930C>A |
p.G310= |
Synonymous |
5/46 |
- |
1 |
16-2118063-C-A |
c.929G>T |
p.G310V |
Missense |
5/46 |
- |
1 |
16-2118063-C-G |
c.929G>C |
p.G310A |
Missense |
5/46 |
- |
1 |
16-2118064-C-T |
c.928G>A |
p.G310S |
Missense |
5/46 |
- |
3 |
16-2118065-G-A |
c.927C>T |
p.D309= |
Synonymous |
5/46 |
- |
1 |
16-2118067-C-G |
c.925G>C |
p.D309H |
Missense |
5/46 |
- |
1 |
16-2118067-C-T |
c.925G>A |
p.D309N |
Missense |
5/46 |
- |
4 |
16-2118068-T-A |
c.924A>T |
p.G308= |
Synonymous |
5/46 |
- |
1 |
16-2118068-T-C |
c.924A>G |
p.G308= |
Synonymous |
5/46 |
- |
1 |
16-2118068-T-G |
c.924A>C |
p.G308= |
Synonymous |
5/46 |
- |
1 |
16-2118069-C-A |
c.923G>T |
p.G308V |
Missense |
5/46 |
- |
1 |
16-2118070-C-G |
c.922G>C |
p.G308R |
Missense |
5/46 |
- |
3 |
16-2118070-C-T |
c.922G>A |
p.G308R |
Missense |
5/46 |
- |
4 |
16-2118071-G-A |
c.921C>T |
p.F307= |
Synonymous |
5/46 |
- |
2 |
16-2118075-T-A |
c.917A>T |
p.D306V |
Missense |
5/46 |
- |
1 |
16-2118075-T-C |
c.917A>G |
p.D306G |
Missense |
5/46 |
- |
1 |
16-2118076-C-G |
c.916G>C |
p.D306H |
Missense |
5/46 |
- |
1 |
16-2118076-C-T |
c.916G>A |
p.D306N |
Missense |
5/46 |
- |
1 |
16-2118079-A-C |
c.913T>G |
p.W305G |
Missense |
5/46 |
- |
1 |
16-2118080-G-A |
c.912C>T |
p.R304= |
Synonymous |
5/46 |
- |
1 |
16-2118080-G-C |
c.912C>G |
p.R304= |
Synonymous |
5/46 |
- |
1 |
16-2118080-GCG-CAT |
c.910_912delinsATG |
p.R304M |
Missense |
5/46 |
- |
1 |
16-2118080-GCG-CCA |
c.910_912delinsTGG |
p.R304W |
Missense |
5/46 |
- |
2 |
16-2118080-GCG-TCA |
c.910_912delinsTGA |
p.R304* |
Nonsense |
5/46 |
- |
1 |
16-2118080-G-T |
c.912C>A |
p.R304= |
Synonymous |
5/46 |
- |
1 |
16-2118081-C-T |
c.911G>A |
p.R304H |
Missense |
5/46 |
- |
1 |
16-2118082-G-C |
c.910C>G |
p.R304G |
Missense |
5/46 |
- |
1 |
16-2118083-TG-CA |
c.908_909inv |
p.T303M |
Missense |
5/46 |
- |
1 |
16-2118085-T-G |
c.907A>C |
p.T303P |
Missense |
5/46 |
- |
1 |
16-2118086-G-A |
c.906C>T |
p.A302= |
Synonymous |
5/46 |
- |
1 |
16-2118086-G-C |
c.906C>G |
p.A302= |
Synonymous |
5/46 |
- |
1 |
16-2118086-G-T |
c.906C>A |
p.A302= |
Synonymous |
5/46 |
- |
2 |
16-2118087-G-A |
c.905C>T |
p.A302V |
Missense |
5/46 |
- |
1 |
16-2118088-C-G |
c.904G>C |
p.A302P |
Missense |
5/46 |
- |
1 |
16-2118088-GC-G |
c.904del |
p.A302Pfs*32 |
Frameshift |
5/46 |
- |
1 |
16-2118090-GT-AC |
c.901_902inv |
p.T301V |
Missense |
5/46 |
- |
1 |
16-2118095-A-C |
c.897T>G |
p.P299= |
Synonymous |
5/46 |
- |
1 |
16-2118095-A-G |
c.897T>C |
p.P299= |
Synonymous |
5/46 |
- |
1 |
16-2118095-A-T |
c.897T>A |
p.P299= |
Synonymous |
5/46 |
- |
1 |
16-2118096-G-C |
c.896C>G |
p.P299R |
Missense |
5/46 |
- |
2 |
16-2118096-G-T |
c.896C>A |
p.P299H |
Missense |
5/46 |
- |
2 |
16-2118097-G-A |
c.895C>T |
p.P299S |
Missense |
5/46 |
- |
1 |
16-2118099-A-G |
c.893T>C |
p.L298P |
Missense |
5/46 |
- |
1 |
16-2118100-G-T |
c.892C>A |
p.L298I |
Missense |
5/46 |
- |
1 |
16-2118101-C-A |
c.891G>T |
p.P297= |
Synonymous |
5/46 |
- |
2 |
16-2118101-C-G |
c.891G>C |
p.P297= |
Synonymous |
5/46 |
- |
2 |
16-2118101-C-T |
c.891G>A |
p.P297= |
Synonymous |
5/46 |
- |
2 |
16-2118102-G-A |
c.890C>T |
p.P297L |
Missense |
5/46 |
- |
2 |
16-2118102-G-C |
c.890C>G |
p.P297R |
Missense |
5/46 |
- |
1 |
16-2118101-C-CG |
c.890dup |
p.L298Afs*73 |
Frameshift |
5/46 |
- |
1 |
16-2118105-G-A |
c.887C>T |
p.A296V |
Missense |
5/46 |
- |
1 |
16-2118107-A-C |
c.885T>G |
p.A295= |
Synonymous |
5/46 |
- |
1 |
16-2118108-G-A |
c.884C>T |
p.A295V |
Missense |
5/46 |
- |
1 |
16-2118108-G-T |
c.884C>A |
p.A295D |
Missense |
5/46 |
- |
1 |
16-2118109-C-T |
c.883G>A |
p.A295T |
Missense |
5/46 |
- |
3 |
16-2118110-G-A |
c.882C>T |
p.I294= |
Synonymous |
5/46 |
- |
4 |
16-2118110-G-C |
c.882C>G |
p.I294M |
Missense |
5/46 |
- |
1 |
16-2118115-G-A |
c.877C>T |
p.H293Y |
Missense |
5/46 |
- |
1 |
16-2118120-G-A |
c.872C>T |
p.A291V |
Missense |
5/46 |
- |
1 |
16-2118124-C-G |
c.868G>C |
p.A290P |
Missense |
5/46 |
- |
1 |
16-2118124-C-T |
c.868G>A |
p.A290T |
Missense |
5/46 |
- |
1 |
16-2118128-C-A |
c.864G>T |
p.Q288H |
Missense |
5/46 |
- |
1 |
16-2118130-G-A |
c.862C>T |
p.Q288* |
Nonsense |
5/46 |
- |
3 |
16-2118130-G-T |
c.862C>A |
p.Q288K |
Missense |
5/46 |
- |
1 |
16-2118132-C-T |
c.860G>A |
p.G287D |
Missense |
5/46 |
- |
1 |
16-2118133-C-CTA |
c.858_859insTA |
p.G287* |
Nonsense |
5/46 |
- |
1 |
16-2118133-C-G |
c.859G>C |
p.G287R |
Missense |
5/46 |
- |
1 |
16-2118134-A-C |
c.858T>G |
p.S286= |
Synonymous |
5/46 |
- |
1 |
16-2118134-A-G |
c.858T>C |
p.S286= |
Synonymous |
5/46 |
- |
1 |
16-2118134-A-T |
c.858T>A |
p.S286= |
Synonymous |
5/46 |
- |
1 |
16-2118135-GA-TT |
c.856_857delinsAA |
p.S286N |
Missense |
5/46 |
- |
1 |
16-2118138-G-A |
c.854C>T |
p.A285V |
Missense |
5/46 |
- |
2 |
16-2118138-G-C |
c.854C>G |
p.A285G |
Missense |
5/46 |
- |
1 |
16-2118129-TGGCCAGA-T |
c.856_862del |
p.G287* |
Frameshift |
5/46 |
- |
6 |
16-2118139-CCAGAGGT-C |
c.846_852del |
p.G287* |
Frameshift |
5/46 |
- |
1 |
16-2118141-A-T |
c.851T>A |
p.L284Q |
Missense |
5/46 |
- |
1 |
16-2118142-G-A |
c.850C>T |
p.L284= |
Synonymous |
5/46 |
- |
1 |
16-2118142-G-T |
c.850C>A |
p.L284M |
Missense |
5/46 |
- |
1 |
16-2118143-A-C |
c.849T>G |
p.P283= |
Synonymous |
5/46 |
- |
1 |
16-2118143-A-G |
c.849T>C |
p.P283= |
Synonymous |
5/46 |
- |
1 |
16-2118143-A-T |
c.849T>A |
p.P283= |
Synonymous |
5/46 |
- |
1 |
16-2118144-G-A |
c.848C>T |
p.P283L |
Missense |
5/46 |
- |
2 |
16-2118144-G-T |
c.848C>A |
p.P283H |
Missense |
5/46 |
- |
1 |
16-2118145-G-A |
c.847C>T |
p.P283S |
Missense |
5/46 |
- |
1 |
16-2118146-T-A |
c.846A>T |
p.G282= |
Synonymous |
5/46 |
- |
1 |
16-2118147-C-T |
c.845G>A |
p.G282E |
Missense |
5/46 |
- |
1 |
16-2118148-C-G |
c.844G>C |
p.G282R |
Missense |
5/46 |
- |
2 |
16-2118148-C-T |
c.844G>A |
p.G282R |
Missense |
5/46 |
- |
1 |
16-2118149-G-A |
c.843C>T |
p.H281= |
Synonymous |
5/46 |
- |
1 |
16-2118149-G-C |
c.843C>G |
p.H281Q |
Missense |
5/46 |
- |
1 |
16-2118150-T-G |
c.842A>C |
p.H281P |
Missense |
5/46 |
- |
1 |
16-2118151-G-A |
c.841C>T |
p.H281Y |
Missense |
5/46 |
- |
1 |
16-2118152-G-A |
c.840C>T |
p.P280= |
Synonymous |
5/46 |
- |
1 |
16-2118152-G-C |
c.840C>G |
p.P280= |
Synonymous |
5/46 |
- |
1 |
16-2118152-G-T |
c.840C>A |
p.P280= |
Synonymous |
5/46 |
- |
1 |
16-2118150-TG-T |
c.841del |
p.H281Tfs*9 |
Frameshift |
5/46 |
- |
1 |
16-2118154-G-C |
c.838C>G |
p.P280A |
Missense |
5/46 |
- |
1 |
16-2118154-G-T |
c.838C>A |
p.P280T |
Missense |
5/46 |
- |
2 |
16-2118155-C-T |
c.837G>A |
p.G279= |
Synonymous |
5/46 |
- |
1 |
16-2118163-G-A |
c.829C>T |
p.L277= |
Synonymous |
5/46 |
- |
1 |
16-2118163-G-C |
c.829C>G |
p.L277V |
Missense |
5/46 |
- |
1 |
16-2118164-G-GC |
c.827_828insG |
p.L277Pfs*94 |
Frameshift |
5/46 |
- |
1 |
16-2118164-GG-CC |
c.827_828inv |
p.T276R |
Missense |
5/46 |
- |
1 |
16-2118162-AG-A |
c.829del |
p.L277Wfs*13 |
Frameshift |
5/46 |
- |
1 |
16-2118165-G-A |
c.827C>T |
p.T276I |
Missense |
5/46 |
- |
3 |
16-2118165-G-GGCCACCC |
c.826_827insGGGTGGC |
p.T276Rfs*97 |
Frameshift |
5/46 |
- |
1 |
16-2118165-G-T |
c.827C>A |
p.T276N |
Missense |
5/46 |
- |
1 |
16-2118165-G-GT |
c.826dup |
p.T276Nfs*95 |
Frameshift |
5/46 |
- |
1 |
16-2118166-T-A |
c.826A>T |
p.T276S |
Missense |
5/46 |
- |
1 |
16-2118166-T-C |
c.826A>G |
p.T276A |
Missense |
5/46 |
- |
2 |
16-2118166-T-TGGTGG |
c.825_826insCCACC |
p.T276Pfs*16 |
Frameshift |
5/46 |
- |
1 |
16-2118168-G-A |
c.824C>T |
p.A275V |
Missense |
5/46 |
- |
1 |
16-2118169-C-T |
c.823G>A |
p.A275T |
Missense |
5/46 |
- |
1 |
16-2118170-CC-GT |
c.821_822delinsAC |
p.G274D |
Missense |
5/46 |
- |
1 |
16-2118170-C-G |
c.822G>C |
p.G274= |
Synonymous |
5/46 |
- |
1 |
16-2118171-C-A |
c.821G>T |
p.G274V |
Missense |
5/46 |
- |
1 |
16-2118171-C-T |
c.821G>A |
p.G274E |
Missense |
5/46 |
- |
1 |
16-2118174-G-A |
c.818C>T |
p.P273L |
Missense |
5/46 |
- |
2 |
16-2118177-G-A |
c.815C>T |
p.S272F |
Missense |
5/46 |
- |
1 |
16-2118180-G-T |
c.812C>A |
p.A271D |
Missense |
5/46 |
- |
2 |
16-2118183-G-C |
c.809C>G |
p.P270R |
Missense |
5/46 |
- |
1 |
16-2118184-G-A |
c.808C>T |
p.P270S |
Missense |
5/46 |
- |
1 |
16-2118184-G-C |
c.808C>G |
p.P270A |
Missense |
5/46 |
- |
1 |
16-2118189-A-G |
c.803T>C |
p.V268A |
Missense |
5/46 |
- |
1 |
16-2118190-C-T |
c.802G>A |
p.V268I |
Missense |
5/46 |
- |
2 |
16-2118191-G-C |
c.801C>G |
p.H267Q |
Missense |
5/46 |
- |
1 |
16-2118191-G-T |
c.801C>A |
p.H267Q |
Missense |
5/46 |
- |
1 |
16-2118196-G-A |
c.796C>T |
p.Q266* |
Nonsense |
5/46 |
- |
4 |
16-2118199-G-A |
c.793C>T |
p.L265F |
Missense |
5/46 |
- |
2 |
16-2118199-G-T |
c.793C>A |
p.L265I |
Missense |
5/46 |
- |
2 |
16-2118202-G-A |
c.790C>T |
p.L264F |
Missense |
5/46 |
- |
1 |
16-2118203-G-A |
c.789C>T |
p.T263= |
Synonymous |
5/46 |
- |
1 |
16-2118204-G-A |
c.788C>T |
p.T263I |
Missense |
5/46 |
- |
2 |
16-2118205-TG-T |
c.786del |
p.T263Pfs*27 |
Frameshift |
5/46 |
- |
1 |
16-2118209-G-A |
c.783C>T |
p.G261= |
Synonymous |
5/46 |
- |
1 |
16-2118209-G-C |
c.783C>G |
p.G261= |
Synonymous |
5/46 |
- |
1 |
16-2118209-GC-CT |
c.782_783delinsAG |
p.G261E |
Missense |
5/46 |
- |
1 |
16-2118209-G-T |
c.783C>A |
p.G261= |
Synonymous |
5/46 |
- |
1 |
16-2118210-C-A |
c.782G>T |
p.G261V |
Missense |
5/46 |
- |
1 |
16-2118211-C-T |
c.781G>A |
p.G261S |
Missense |
5/46 |
- |
1 |
16-2118212-CCT-ATG |
c.778_780delinsCAT |
p.R260H |
Missense |
5/46 |
- |
1 |
16-2118213-C-A |
c.779G>T |
p.R260M |
Missense |
5/46 |
- |
1 |
16-2118213-C-G |
c.779G>C |
p.R260T |
Missense |
5/46 |
- |
1 |
16-2118216-C-T |
c.776G>A |
p.C259Y |
Missense |
5/46 |
- |
4 |
16-2118218-GG-CA |
c.773_774delinsTG |
p.T258M |
Missense |
5/46 |
- |
1 |
16-2118221-G-A |
c.771C>T |
p.P257= |
Synonymous |
5/46 |
- |
1 |
16-2118222-G-A |
c.770C>T |
p.P257L |
Missense |
5/46 |
- |
2 |
16-2118216-CAGGTGGGGGCAGG-C |
c.763_775del |
p.P255Vfs*31 |
Frameshift |
5/46 |
- |
1 |
16-2118223-G-A |
c.769C>T |
p.P257S |
Missense |
5/46 |
- |
1 |
16-2118224-GG-CT |
c.767_768delinsAG |
p.A256E |
Missense |
5/46 |
- |
1 |
16-2118220-TG-T |
c.771del |
p.T258Pfs*32 |
Frameshift |
5/46 |
- |
1 |
16-2118225-G-T |
c.767C>A |
p.A256D |
Missense |
5/46 |
- |
1 |
16-2118226-C-A |
c.766G>T |
p.A256S |
Missense |
5/46 |
- |
1 |
16-2118227-AG-TT |
c.764_765delinsAA |
p.P255Q |
Missense |
5/46 |
- |
1 |
16-2118228-G-A |
c.764C>T |
p.P255L |
Missense |
5/46 |
- |
1 |
16-2118232-G-A |
c.760C>T |
p.P254S |
Missense |
5/46 |
- |
2 |
16-2118232-G-T |
c.760C>A |
p.P254T |
Missense |
5/46 |
- |
1 |
16-2118233-T-A |
c.759A>T |
p.P253= |
Synonymous |
5/46 |
- |
1 |
16-2118233-T-C |
c.759A>G |
p.P253= |
Synonymous |
5/46 |
- |
1 |
16-2118233-T-G |
c.759A>C |
p.P253= |
Synonymous |
5/46 |
- |
1 |
16-2118234-G-C |
c.758C>G |
p.P253R |
Missense |
5/46 |
- |
1 |
16-2118236-CG-AT |
c.755_756delinsAT |
p.P252H |
Missense |
5/46 |
- |
1 |
16-2118236-GC-G |
c.756del |
p.P253Hfs*37 |
Frameshift |
5/46 |
- |
1 |
16-2118238-G-A |
c.754C>T |
p.P252S |
Missense |
5/46 |
- |
2 |
16-2118238-G-T |
c.754C>A |
p.P252T |
Missense |
5/46 |
- |
1 |
16-2118240-G-A |
c.752C>T |
p.P251L |
Missense |
5/46 |
- |
1 |
16-2118241-G-A |
c.751C>T |
p.P251S |
Missense |
5/46 |
- |
1 |
16-2118241-G-T |
c.751C>A |
p.P251T |
Missense |
5/46 |
- |
2 |
16-2118236-CG-C |
c.755del |
p.P252Rfs*38 |
Frameshift |
5/46 |
- |
1 |
16-2118242-G-A |
c.750C>T |
p.G250= |
Synonymous |
5/46 |
- |
1 |
16-2118242-G-C |
c.750C>G |
p.G250= |
Synonymous |
5/46 |
- |
1 |
16-2118242-G-T |
c.750C>A |
p.G250= |
Synonymous |
5/46 |
- |
1 |
16-2118243-C-T |
c.749G>A |
p.G250D |
Missense |
5/46 |
- |
1 |
16-2118246-GA-TT |
c.745_746delinsAA |
p.S249N |
Missense |
5/46 |
- |
1 |
16-2118247-A-G |
c.745T>C |
p.S249P |
Missense |
5/46 |
- |
1 |
16-2118253-G-A |
c.739C>T |
p.L247F |
Missense |
5/46 |
- |
2 |
16-2118255-GGA-G |
c.736_737del |
p.S246Pfs*14 |
Frameshift |
5/46 |
- |
1 |
16-2118257-C-A |
c.735G>T |
p.L245= |
Synonymous |
5/46 |
- |
1 |
16-2118257-CAG-AAA |
c.733_735delinsTTT |
p.L245F |
Missense |
5/46 |
- |
1 |
16-2118257-C-G |
c.735G>C |
p.L245= |
Synonymous |
5/46 |
- |
1 |
16-2118257-C-T |
c.735G>A |
p.L245= |
Synonymous |
5/46 |
- |
1 |
16-2118259-G-A |
c.733C>T |
p.L245= |
Synonymous |
5/46 |
- |
1 |
16-2118261-C-T |
c.731G>A |
p.C244Y |
Missense |
5/46 |
- |
1 |
16-2118262-A-G |
c.730T>C |
p.C244R |
Missense |
5/46 |
- |
1 |
16-2118264-G-A |
c.728C>T |
p.A243V |
Missense |
5/46 |
- |
3 |
16-2118265-C-A |
c.727G>T |
p.A243S |
Missense |
5/46 |
- |
1 |
16-2118266-A-G |
c.726T>C |
p.F242= |
Synonymous |
5/46 |
- |
1 |
16-2118270-G-A |
c.722C>T |
p.S241F |
Missense |
5/46 |
- |
1 |
16-2118270-GA-TT |
c.721_722delinsAA |
p.S241N |
Missense |
5/46 |
- |
1 |
16-2118270-G-C |
c.722C>G |
p.S241C |
Missense |
5/46 |
- |
1 |
16-2118273-G-A |
c.719C>T |
p.A240V |
Missense |
5/46 |
- |
1 |
16-2118276-C-A |
c.716G>T |
p.S239I |
Missense |
5/46 |
- |
1 |
16-2118276-CT-AG |
c.715_716inv |
p.S239L |
Missense |
5/46 |
- |
1 |
16-2118278-G-A |
c.714C>T |
p.S238= |
Synonymous |
5/46 |
- |
1 |
16-2118278-G-C |
c.714C>G |
p.S238= |
Synonymous |
5/46 |
- |
1 |
16-2118278-G-T |
c.714C>A |
p.S238= |
Synonymous |
5/46 |
- |
1 |
16-2118279-G-A |
c.713C>T |
p.S238F |
Missense |
5/46 |
- |
2 |
16-2118279-GA-TT |
c.712_713delinsAA |
p.S238N |
Missense |
5/46 |
- |
1 |
16-2118279-G-C |
c.713C>G |
p.S238C |
Missense |
5/46 |
- |
1 |
16-2118281-GG-TT |
c.710_711delinsAA |
p.P237Q |
Missense |
5/46 |
- |
1 |
16-2118283-G-A |
c.709C>T |
p.P237S |
Missense |
5/46 |
- |
1 |
16-2118283-G-C |
c.709C>G |
p.P237A |
Missense |
5/46 |
- |
1 |
16-2118285-CTG-C |
c.706_707del |
p.Q236Afs*24 |
Frameshift |
5/46 |
- |
1 |
16-2118285-T-C |
c.707A>G |
p.Q236R |
Missense |
5/46 |
- |
2 |
16-2118286-G-A |
c.706C>T |
p.Q236* |
Nonsense |
5/46 |
- |
2 |
16-2118287-GGGCCGCCC-G |
c.698_705del |
p.G233Afs*25 |
Frameshift |
5/46 |
- |
1 |
16-2118288-GC-CA |
c.703_704delinsTG |
p.A235C |
Missense |
5/46 |
- |
1 |
16-2118289-C-A |
c.703G>T |
p.A235S |
Missense |
5/46 |
- |
2 |
16-2118289-C-T |
c.703G>A |
p.A235T |
Missense |
5/46 |
- |
3 |
16-2118288-GCCGCC-G |
c.699_703del |
p.A234Pfs*25 |
Frameshift |
5/46 |
- |
1 |
16-2118291-G-C |
c.701C>G |
p.A234G |
Missense |
5/46 |
- |
1 |
16-2118292-C-A |
c.700G>T |
p.A234S |
Missense |
5/46 |
- |
1 |
16-2118293-CC-GT |
c.698_699delinsAC |
p.G233D |
Missense |
5/46 |
- |
1 |
16-2118295-C-T |
c.697G>A |
p.G233R |
Missense |
5/46 |
- |
1 |
16-2118296-A-T |
c.696T>A |
p.C232* |
Nonsense |
5/46 |
- |
1 |
16-2118297-C-G |
c.695G>C |
p.C232S |
Missense |
5/46 |
- |
1 |
16-2118297-C-T |
c.695G>A |
p.C232Y |
Missense |
5/46 |
- |
1 |
16-2118299-CAG-AAA |
c.691_693delinsTTT |
p.L231F |
Missense |
5/46 |
- |
1 |
16-2118303-C-A |
c.689G>T |
p.C230F |
Missense |
5/46 |
- |
1 |
16-2118303-C-G |
c.689G>C |
p.C230S |
Missense |
5/46 |
- |
1 |
16-2118303-C-T |
c.689G>A |
p.C230Y |
Missense |
5/46 |
- |
2 |
16-2118306-C-T |
c.686G>A |
p.W229* |
Nonsense |
5/46 |
- |
1 |
16-2118307-A-G |
c.685T>C |
p.W229R |
Missense |
5/46 |
- |
1 |
16-2118307-A-T |
c.685T>A |
p.W229R |
Missense |
5/46 |
- |
1 |
16-2118308-G-A |
c.684C>T |
p.G228= |
Synonymous |
5/46 |
- |
2 |
16-2118308-G-C |
c.684C>G |
p.G228= |
Synonymous |
5/46 |
- |
2 |
16-2118308-G-T |
c.684C>A |
p.G228= |
Synonymous |
5/46 |
- |
2 |
16-2118309-C-A |
c.683G>T |
p.G228V |
Missense |
5/46 |
- |
1 |
16-2118310-C-G |
c.682G>C |
p.G228R |
Missense |
5/46 |
- |
1 |
16-2118312-T-C |
c.680A>G |
p.Q227R |
Missense |
5/46 |
- |
1 |
16-2118313-G-A |
c.679C>T |
p.Q227* |
Nonsense |
5/46 |
- |
2 |
16-2118313-G-C |
c.679C>G |
p.Q227E |
Missense |
5/46 |
- |
1 |
16-2118314-C-T |
c.678G>A |
p.E226= |
Synonymous |
5/46 |
- |
1 |
16-2118315-T-G |
c.677A>C |
p.E226A |
Missense |
5/46 |
- |
1 |
16-2118316-C-A |
c.676G>T |
p.E226* |
Nonsense |
5/46 |
- |
1 |
16-2118316-C-G |
c.676G>C |
p.E226Q |
Missense |
5/46 |
- |
1 |
16-2118317-C-T |
c.675G>A |
p.S225= |
Synonymous |
5/46 |
- |
2 |
16-2118318-G-A |
c.674C>T |
p.S225L |
Missense |
5/46 |
- |
3 |
16-2118318-G-T |
c.674C>A |
p.S225* |
Nonsense |
5/46 |
- |
1 |
16-2118320-G-A |
c.672C>T |
p.L224= |
Synonymous |
5/46 |
- |
1 |
16-2118320-G-C |
c.672C>G |
p.L224= |
Synonymous |
5/46 |
- |
1 |
16-2118320-G-T |
c.672C>A |
p.L224= |
Synonymous |
5/46 |
- |
1 |
16-2118324-G-A |
c.668C>T |
p.A223V |
Missense |
5/46 |
- |
2 |
16-2118325-C-T |
c.667G>A |
p.A223T |
Missense |
5/46 |
- |
1 |
16-2118329-G-A |
c.663C>T |
p.L221= |
Synonymous |
5/46 |
- |
1 |
16-2118329-G-C |
c.663C>G |
p.L221= |
Synonymous |
5/46 |
- |
1 |
16-2118329-G-T |
c.663C>A |
p.L221= |
Synonymous |
5/46 |
- |
1 |
16-2118330-A-C |
c.662T>G |
p.L221R |
Missense |
5/46 |
- |
1 |
16-2118331-G-A |
c.661C>T |
p.L221F |
Missense |
5/46 |
- |
1 |
16-2118332-G-A |
c.660C>T |
p.G220= |
Synonymous |
5/46 |
- |
1 |
16-2118333-C-T |
c.659G>A |
p.G220D |
Missense |
5/46 |
- |
1 |
16-2118334-C-T |
c.658G>A |
p.G220S |
Missense |
5/46 |
- |
1 |
16-2118338-G-GC |
c.653dup |
p.Q219Pfs*42 |
Frameshift |
5/46 |
- |
1 |
16-2118340-C-A |
c.652G>T |
p.G218C |
Missense |
5/46 |
- |
2 |
16-2118341-G-A |
c.651C>T |
p.T217= |
Synonymous |
5/46 |
- |
3 |
16-2118341-G-C |
c.651C>G |
p.T217= |
Synonymous |
5/46 |
- |
2 |
16-2118341-G-T |
c.651C>A |
p.T217= |
Synonymous |
5/46 |
- |
2 |
16-2118340-CG-C |
c.651del |
p.G218Afs*72 |
Frameshift |
5/46 |
- |
1 |
16-2118342-G-A |
c.650C>T |
p.T217I |
Missense |
5/46 |
- |
1 |
16-2118345-GA-AG |
c.646_647delinsCT |
p.S216L |
Missense |
5/46 |
- |
1 |
16-2118347-G-GA |
c.644dup |
p.S216Lfs*45 |
Frameshift |
5/46 |
- |
1 |
16-2118348-A-AAAGC |
c.643_644insGCTT |
p.F215Cfs*47 |
Frameshift |
5/46 |
- |
2 |
16-2118350-G-C |
c.642C>G |
p.C214W |
Missense |
5/46 |
- |
1 |
16-2118351-C-A |
c.641G>T |
p.C214F |
Missense |
5/46 |
- |
1 |
16-2118351-CA-GT |
c.640_641delinsAC |
p.C214T |
Missense |
5/46 |
- |
1 |
16-2118355-A-G |
c.637T>C |
p.F213L |
Missense |
5/46 |
- |
1 |
16-2118357-G-C |
c.635C>G |
p.A212G |
Missense |
5/46 |
- |
1 |
16-2118358-C-T |
c.634G>A |
p.A212T |
Missense |
5/46 |
- |
1 |
16-2118359-G-A |
c.633C>T |
p.S211= |
Synonymous |
5/46 |
- |
1 |
16-2118360-C-A |
c.632G>T |
p.S211I |
Missense |
5/46 |
- |
1 |
16-2118360-CT-GG |
c.631_632delinsCC |
p.S211P |
Missense |
5/46 |
- |
1 |
16-2118363-C-T |
c.629G>A |
p.C210Y |
Missense |
5/46 |
- |
1 |
16-2118364-A-C |
c.628T>G |
p.C210G |
Missense |
5/46 |
- |
3 |
16-2118367-C-T |
c.625G>A |
p.A209T |
Missense |
5/46 |
- |
2 |
16-2118368-C-A |
c.624G>T |
p.E208D |
Missense |
5/46 |
- |
1 |
16-2118368-C-G |
c.624G>C |
p.E208D |
Missense |
5/46 |
- |
1 |
16-2118370-C-A |
c.622G>T |
p.E208* |
Nonsense |
5/46 |
- |
1 |
16-2118370-C-T |
c.622G>A |
p.E208K |
Missense |
5/46 |
- |
1 |
16-2118371-TG-AT |
c.620_621delinsAT |
p.P207H |
Missense |
5/46 |
- |
1 |
16-2118372-G-A |
c.620C>T |
p.P207L |
Missense |
5/46 |
- |
1 |
16-2118373-G-A |
c.619C>T |
p.P207S |
Missense |
5/46 |
- |
1 |
16-2118374-C-A |
c.618G>T |
p.Q206H |
Missense |
5/46 |
- |
1 |
16-2118374-C-G |
c.618G>C |
p.Q206H |
Missense |
5/46 |
- |
1 |
16-2118374-C-T |
c.618G>A |
p.Q206= |
Synonymous |
5/46 |
- |
1 |
16-2118375-T-C |
c.617A>G |
p.Q206R |
Missense |
5/46 |
- |
1 |
16-2118376-G-C |
c.616C>G |
p.Q206E |
Missense |
5/46 |
- |
1 |
16-2118379-G-A |
c.613C>T |
p.L205F |
Missense |
5/46 |
- |
1 |
16-2118380-C-A |
c.612G>T |
p.L204= |
Synonymous |
5/46 |
- |
1 |
16-2118380-CAG-GAT |
c.610_612delinsATC |
p.L204I |
Missense |
5/46 |
- |
1 |
16-2118380-C-G |
c.612G>C |
p.L204= |
Synonymous |
5/46 |
- |
1 |
16-2118380-C-T |
c.612G>A |
p.L204= |
Synonymous |
5/46 |
- |
1 |
16-2118381-A-C |
c.611T>G |
p.L204R |
Missense |
5/46 |
- |
1 |
16-2118381-A-G |
c.611T>C |
p.L204P |
Missense |
5/46 |
- |
1 |
16-2118382-G-A |
c.610C>T |
p.L204= |
Synonymous |
5/46 |
- |
2 |
16-2118385-C-T |
c.607G>A |
p.G203S |
Missense |
5/46 |
- |
1 |
16-2118387-T-C |
c.605A>G |
p.E202G |
Missense |
5/46 |
- |
1 |
16-2118388-C-A |
c.604G>T |
p.E202* |
Nonsense |
5/46 |
- |
1 |
16-2118388-C-T |
c.604G>A |
p.E202K |
Missense |
5/46 |
- |
1 |
16-2118389-G-A |
c.603C>T |
p.H201= |
Synonymous |
5/46 |
- |
1 |
16-2118389-G-C |
c.603C>G |
p.H201Q |
Missense |
5/46 |
- |
1 |
16-2118389-G-T |
c.603C>A |
p.H201Q |
Missense |
5/46 |
- |
1 |
16-2118391-G-A |
c.601C>T |
p.H201Y |
Missense |
5/46 |
- |
1 |
16-2118391-G-C |
c.601C>G |
p.H201D |
Missense |
5/46 |
- |
1 |
16-2118393-G-A |
c.599C>T |
p.A200V |
Missense |
5/46 |
- |
1 |
16-2118393-G-T |
c.599C>A |
p.A200D |
Missense |
5/46 |
- |
1 |
16-2118397-C-T |
c.595G>A |
p.A199T |
Missense |
5/46 |
- |
1 |
16-2118400-A-G |
c.592T>C |
p.S198P |
Missense |
5/46 |
- |
1 |
16-2118401-A-C |
c.591T>G |
p.F197L |
Missense |
5/46 |
- |
1 |
16-2118401-A-T |
c.591T>A |
p.F197L |
Missense |
5/46 |
- |
1 |
16-2118403-A-G |
c.589T>C |
p.F197L |
Missense |
5/46 |
- |
1 |
16-2118403-A-T |
c.589T>A |
p.F197I |
Missense |
5/46 |
- |
1 |
16-2118405-G-C |
c.587C>G |
p.S196C |
Missense |
5/46 |
- |
1 |
16-2118409-C-A |
c.583G>T |
p.V195L |
Missense |
5/46 |
- |
1 |
16-2118409-C-G |
c.583G>C |
p.V195L |
Missense |
5/46 |
- |
1 |
16-2118411-G-A |
c.581C>T |
p.A194V |
Missense |
5/46 |
- |
1 |
16-2118412-C-A |
c.580G>T |
p.A194S |
Missense |
5/46 |
- |
1 |
16-2118412-C-T |
c.580G>A |
p.A194T |
Missense |
5/46 |
- |
2 |
16-2118415-C-T |
c.577G>A |
p.A193T |
Missense |
5/46 |
- |
1 |
16-2118416-CAC-GAT |
c.574_576delinsATC |
p.V192I |
Missense |
5/46 |
- |
1 |
16-2118418-C-T |
c.574G>A |
p.V192M |
Missense |
5/46 |
- |
1 |
16-2118423-C-T |
c.569G>A |
p.G190D |
Missense |
5/46 |
- |
1 |
16-2118424-C-A |
c.568G>T |
p.G190C |
Missense |
5/46 |
- |
2 |
16-2118424-C-T |
c.568G>A |
p.G190S |
Missense |
5/46 |
- |
4 |
16-2118425-T-C |
c.567A>G |
p.S189= |
Synonymous |
5/46 |
- |
1 |
16-2118425-TGA-GTC |
c.565_567delinsGAC |
p.S189D |
Missense |
5/46 |
- |
1 |
16-2118426-G-A |
c.566C>T |
p.S189L |
Missense |
5/46 |
- |
1 |
16-2118426-G-C |
c.566C>G |
p.S189* |
Nonsense |
5/46 |
- |
1 |
16-2118427-A-C |
c.565T>G |
p.S189A |
Missense |
5/46 |
- |
1 |
16-2118427-A-G |
c.565T>C |
p.S189P |
Missense |
5/46 |
- |
1 |
16-2118432-T-C |
c.560A>G |
p.N187S |
Missense |
5/46 |
- |
1 |
16-2118439-G-A |
c.553C>T |
p.P185S |
Missense |
5/46 |
- |
1 |
16-2118440-G-A |
c.552C>T |
p.L184= |
Synonymous |
5/46 |
- |
1 |
16-2118440-G-C |
c.552C>G |
p.L184= |
Synonymous |
5/46 |
- |
1 |
16-2118440-G-T |
c.552C>A |
p.L184= |
Synonymous |
5/46 |
- |
1 |
16-2118441-A-C |
c.551T>G |
p.L184R |
Missense |
5/46 |
- |
1 |
16-2118441-A-G |
c.551T>C |
p.L184P |
Missense |
5/46 |
- |
1 |
16-2118442-G-A |
c.550C>T |
p.L184F |
Missense |
5/46 |
- |
2 |
16-2118443-G-A |
c.549C>T |
p.C183= |
Synonymous |
5/46 |
- |
1 |
16-2118447-G-A |
c.545C>T |
p.A182V |
Missense |
5/46 |
- |
1 |
16-2118447-G-GC |
c.544dup |
p.A182Gfs*5 |
Frameshift |
5/46 |
- |
1 |
16-2118448-C-T |
c.544G>A |
p.A182T |
Missense |
5/46 |
- |
2 |
16-2118451-C-T |
c.541G>A |
p.V181I |
Missense |
5/46 |
- |
3 |
16-2118454-TA-T |
c.538del |
p.Y180Mfs*110 |
Frameshift |
5/46 |
- |
1 |
16-2118456-T-A |
c.536A>T |
p.E179V |
Missense |
5/46 |
- |
1 |
16-2118457-C-T |
c.535G>A |
p.E179K |
Missense |
5/46 |
- |
1 |
16-2118675-C-T |
c.529+1G>A |
- |
IntronicSNV |
- |
4/45 |
1 |
16-2118676-C-CG |
c.528_529insC |
p.G177Rfs*2 |
SpliceDonorInsertion |
4/46 |
- |
1 |
16-2118676-C-CT |
c.528_529insA |
p.G177Rfs*2 |
SpliceDonorInsertion |
4/46 |
- |
1 |
16-2118676-C-G |
c.529G>C |
p.G177R |
Missense |
4/46 |
- |
1 |
16-2118676-C-CA |
c.528dup |
p.G177Wfs*2 |
SpliceDonorInsertion |
4/46 |
- |
1 |
16-2118677-A-G |
c.528T>C |
p.C176= |
Synonymous |
4/46 |
- |
1 |
16-2118678-C-T |
c.527G>A |
p.C176Y |
Missense |
4/46 |
- |
1 |
16-2118680-GC-CT |
c.524_525delinsAG |
p.G175E |
Missense |
4/46 |
- |
1 |
16-2118682-C-G |
c.523G>C |
p.G175R |
Missense |
4/46 |
- |
1 |
16-2118682-C-T |
c.523G>A |
p.G175S |
Missense |
4/46 |
- |
2 |
16-2118684-C-T |
c.521G>A |
p.S174N |
Missense |
4/46 |
- |
1 |
16-2118684-CT-AA |
c.520_521delinsTT |
p.S174F |
Missense |
4/46 |
- |
1 |
16-2118684-CT-GC |
c.520_521delinsGC |
p.S174A |
Missense |
4/46 |
- |
1 |
16-2118687-T-G |
c.518A>C |
p.D173A |
Missense |
4/46 |
- |
1 |
16-2118688-C-G |
c.517G>C |
p.D173H |
Missense |
4/46 |
- |
1 |
16-2118688-C-T |
c.517G>A |
p.D173N |
Missense |
4/46 |
- |
2 |
16-2118697-G-A |
c.508C>T |
p.P170S |
Missense |
4/46 |
- |
1 |
16-2118701-GC-CT |
c.503_504delinsAG |
p.G168E |
Missense |
4/46 |
- |
1 |
16-2118702-C-G |
c.503G>C |
p.G168A |
Missense |
4/46 |
- |
1 |
16-2118702-C-T |
c.503G>A |
p.G168D |
Missense |
4/46 |
- |
1 |
16-2118703-C-G |
c.502G>C |
p.G168R |
Missense |
4/46 |
- |
3 |
16-2118703-C-T |
c.502G>A |
p.G168S |
Missense |
4/46 |
- |
2 |
16-2118705-A-G |
c.500T>C |
p.L167P |
Missense |
4/46 |
- |
1 |
16-2118706-G-T |
c.499C>A |
p.L167I |
Missense |
4/46 |
- |
1 |
16-2118707-CAG-AAA |
c.496_498delinsTTT |
p.L166F |
Missense |
4/46 |
- |
1 |
16-2118708-A-G |
c.497T>C |
p.L166P |
Missense |
4/46 |
- |
1 |
16-2118709-G-A |
c.496C>T |
p.L166= |
Synonymous |
4/46 |
- |
1 |
16-2118711-G-A |
c.494C>T |
p.P165L |
Missense |
4/46 |
- |
1 |
16-2118712-G-A |
c.493C>T |
p.P165S |
Missense |
4/46 |
- |
1 |
16-2118712-G-T |
c.493C>A |
p.P165T |
Missense |
4/46 |
- |
1 |
16-2118713-C-A |
c.492G>T |
p.Q164H |
Missense |
4/46 |
- |
1 |
16-2118713-C-G |
c.492G>C |
p.Q164H |
Missense |
4/46 |
- |
1 |
16-2118714-T-C |
c.491A>G |
p.Q164R |
Missense |
4/46 |
- |
2 |
16-2118715-G-T |
c.490C>A |
p.Q164K |
Missense |
4/46 |
- |
1 |
16-2118717-CCAGCCAGGGAGCCAGGCCCAG-C |
c.467_487del |
p.A156_A162del |
InFrameDeletion |
4/46 |
- |
1 |
16-2118720-AG-A |
c.485del |
p.A162Vfs*128 |
Frameshift |
4/46 |
- |
1 |
16-2118721-C-T |
c.484G>A |
p.A162T |
Missense |
4/46 |
- |
2 |
16-2118722-CAG-AAA |
c.481_483delinsTTT |
p.L161F |
Missense |
4/46 |
- |
1 |
16-2118723-A-G |
c.482T>C |
p.L161P |
Missense |
4/46 |
- |
1 |
16-2118726-G-A |
c.479C>T |
p.S160F |
Missense |
4/46 |
- |
2 |
16-2118726-GA-AT |
c.478_479delinsAT |
p.S160I |
Missense |
4/46 |
- |
1 |
16-2118726-G-T |
c.479C>A |
p.S160Y |
Missense |
4/46 |
- |
1 |
16-2118730-C-G |
c.475G>C |
p.G159R |
Missense |
4/46 |
- |
1 |
16-2118732-G-A |
c.473C>T |
p.P158L |
Missense |
4/46 |
- |
2 |
16-2118733-G-A |
c.472C>T |
p.P158S |
Missense |
4/46 |
- |
1 |
16-2118733-G-C |
c.472C>G |
p.P158A |
Missense |
4/46 |
- |
1 |
16-2118735-C-T |
c.470G>A |
p.G157E |
Missense |
4/46 |
- |
1 |
16-2118738-G-A |
c.467C>T |
p.A156V |
Missense |
4/46 |
- |
2 |
16-2118738-G-C |
c.467C>G |
p.A156G |
Missense |
4/46 |
- |
2 |
16-2118738-G-T |
c.467C>A |
p.A156D |
Missense |
4/46 |
- |
1 |
16-2118739-C-T |
c.466G>A |
p.A156T |
Missense |
4/46 |
- |
1 |
16-2118741-C-T |
c.464G>A |
p.C155Y |
Missense |
4/46 |
- |
2 |
16-2118743-C-T |
c.462G>A |
p.T154= |
Synonymous |
4/46 |
- |
1 |
16-2118744-G-A |
c.461C>T |
p.T154M |
Missense |
4/46 |
- |
1 |
16-2118747-G-A |
c.458C>T |
p.A153V |
Missense |
4/46 |
- |
2 |
16-2118748-C-T |
c.457G>A |
p.A153T |
Missense |
4/46 |
- |
2 |
16-2118751-C-T |
c.454G>A |
p.A152T |
Missense |
4/46 |
- |
2 |
16-2118745-TGGCTGCCTCG-T |
c.450_459del |
p.E151Rfs*136 |
Frameshift |
4/46 |
- |
1 |
16-2118755-G-A |
c.450C>T |
p.P150= |
Synonymous |
4/46 |
- |
1 |
16-2118756-G-T |
c.449C>A |
p.P150H |
Missense |
4/46 |
- |
1 |
16-2118757-G-A |
c.448C>T |
p.P150S |
Missense |
4/46 |
- |
1 |
16-2118759-T-A |
c.446A>T |
p.Q149L |
Missense |
4/46 |
- |
1 |
16-2118760-G-A |
c.445C>T |
p.Q149* |
Nonsense |
4/46 |
- |
2 |
16-2118764-CAC-GAT |
c.439_441delinsATC |
p.V147I |
Missense |
4/46 |
- |
1 |
16-2118764-CA-GT |
c.440_441delinsAC |
p.V147D |
Missense |
4/46 |
- |
1 |
16-2118765-A-C |
c.440T>G |
p.V147G |
Missense |
4/46 |
- |
1 |
16-2118765-A-G |
c.440T>C |
p.V147A |
Missense |
4/46 |
- |
2 |
16-2118766-C-T |
c.439G>A |
p.V147M |
Missense |
4/46 |
- |
1 |
16-2118767-CC-AT |
c.437_438delinsAT |
p.R146H |
Missense |
4/46 |
- |
1 |
16-2118767-C-T |
c.438G>A |
p.R146= |
Synonymous |
4/46 |
- |
3 |
16-2118765-AC-A |
c.439del |
p.V147Wfs*143 |
Frameshift |
4/46 |
- |
1 |
16-2118768-C-A |
c.437G>T |
p.R146L |
Missense |
4/46 |
- |
1 |
16-2118767-C-A |
c.438G>T |
p.R146= |
Synonymous |
4/46 |
- |
1 |
16-2118767-C-G |
c.438G>C |
p.R146= |
Synonymous |
4/46 |
- |
1 |
16-2118769-G-C |
c.436C>G |
p.R146G |
Missense |
4/46 |
- |
3 |
16-2118769-G-T |
c.436C>A |
p.R146= |
Synonymous |
4/46 |
- |
1 |
16-2118771-A-G |
c.434T>C |
p.V145A |
Missense |
4/46 |
- |
1 |
16-2118775-G-A |
c.430C>T |
p.Q144* |
Nonsense |
4/46 |
- |
2 |
16-2118775-G-C |
c.430C>G |
p.Q144E |
Missense |
4/46 |
- |
1 |
16-2118776-C-G |
c.429G>C |
p.Q143H |
Missense |
4/46 |
- |
1 |
16-2118778-G-A |
c.427C>T |
p.Q143* |
Nonsense |
4/46 |
- |
1 |
16-2118781-C-T |
c.424G>A |
p.E142K |
Missense |
4/46 |
- |
1 |
16-2118784-C-G |
c.421G>C |
p.E141Q |
Missense |
4/46 |
- |
1 |
16-2118784-C-T |
c.421G>A |
p.E141K |
Missense |
4/46 |
- |
1 |
16-2118785-CG-GT |
c.419_420delinsAC |
p.A140D |
Missense |
4/46 |
- |
1 |
16-2118785-C-T |
c.420G>A |
p.A140= |
Synonymous |
4/46 |
- |
3 |
16-2118786-G-A |
c.419C>T |
p.A140V |
Missense |
4/46 |
- |
1 |
16-2118787-C-A |
c.418G>T |
p.A140S |
Missense |
4/46 |
- |
1 |
16-2118787-C-T |
c.418G>A |
p.A140T |
Missense |
4/46 |
- |
2 |
16-2118788-C-A |
c.417G>T |
p.W139C |
Missense |
4/46 |
- |
4 |
16-2118788-C-G |
c.417G>C |
p.W139C |
Missense |
4/46 |
- |
4 |
16-2118786-GC-G |
c.418del |
p.A140Rfs*150 |
Frameshift |
4/46 |
- |
1 |
16-2118789-C-A |
c.416G>T |
p.W139L |
Missense |
4/46 |
- |
1 |
16-2118790-A-G |
c.415T>C |
p.W139R |
Missense |
4/46 |
- |
1 |
16-2118791-T-A |
c.414A>T |
p.R138= |
Synonymous |
4/46 |
- |
1 |
16-2118791-TC-AT |
c.413_414delinsAT |
p.R138H |
Missense |
4/46 |
- |
1 |
16-2118791-TCG-ACA |
c.412_414delinsTGT |
p.R138C |
Missense |
4/46 |
- |
1 |
16-2118791-TCG-GCT |
c.412_414delinsAGC |
p.R138S |
Missense |
4/46 |
- |
1 |
16-2118791-T-G |
c.414A>C |
p.R138= |
Synonymous |
4/46 |
- |
1 |
16-2118792-C-A |
c.413G>T |
p.R138L |
Missense |
4/46 |
- |
1 |
16-2118792-CG-GT |
c.412_413delinsAC |
p.R138T |
Missense |
4/46 |
- |
1 |
16-2118793-G-A |
c.412C>T |
p.R138* |
Nonsense |
4/46 |
- |
4 |
16-2118794-C-A |
c.411G>T |
p.P137= |
Synonymous |
4/46 |
- |
1 |
16-2118794-CG-AT |
c.410_411delinsAT |
p.P137H |
Missense |
4/46 |
- |
1 |
16-2118795-G-A |
c.410C>T |
p.P137L |
Missense |
4/46 |
- |
2 |
16-2118796-G-A |
c.409C>T |
p.P137S |
Missense |
4/46 |
- |
2 |
16-2118798-A-T |
c.407T>A |
p.L136Q |
Missense |
4/46 |
- |
1 |
16-2118799-G-C |
c.406C>G |
p.L136V |
Missense |
4/46 |
- |
1 |
16-2118800-C-T |
c.405G>A |
p.W135* |
Nonsense |
4/46 |
- |
1 |
16-2118801-C-T |
c.404G>A |
p.W135* |
Nonsense |
4/46 |
- |
1 |
16-2118802-CA-C |
c.403del |
p.W135Gfs*155 |
Frameshift |
4/46 |
- |
1 |
16-2118805-C-A |
c.400G>T |
p.A134S |
Missense |
4/46 |
- |
1 |
16-2118811-C-T |
c.394G>A |
p.G132S |
Missense |
4/46 |
- |
1 |
16-2118810-CCA-C |
c.393_394del |
p.C131Wfs*47 |
Frameshift |
4/46 |
- |
2 |
16-2118813-C-A |
c.392G>T |
p.C131F |
Missense |
4/46 |
- |
1 |
16-2118813-CA-GT |
c.391_392delinsAC |
p.C131T |
Missense |
4/46 |
- |
1 |
16-2118816-T-C |
c.389A>G |
p.D130G |
Missense |
4/46 |
- |
2 |
16-2118817-C-A |
c.388G>T |
p.D130Y |
Missense |
4/46 |
- |
1 |
16-2118819-C-A |
c.386G>T |
p.C129F |
Missense |
4/46 |
- |
2 |
16-2118819-C-T |
c.386G>A |
p.C129Y |
Missense |
4/46 |
- |
1 |
16-2118823-C-T |
c.382G>A |
p.E128K |
Missense |
4/46 |
- |
3 |
16-2118825-A-G |
c.380T>C |
p.F127S |
Missense |
4/46 |
- |
1 |
16-2118827-C-A |
c.378G>T |
p.P126= |
Synonymous |
4/46 |
- |
1 |
16-2118828-G-A |
c.377C>T |
p.P126L |
Missense |
4/46 |
- |
1 |
16-2118828-G-T |
c.377C>A |
p.P126Q |
Missense |
4/46 |
- |
1 |
16-2118830-G-A |
c.375C>T |
p.N125= |
Synonymous |
4/46 |
- |
2 |
16-2118832-T-C |
c.373A>G |
p.N125D |
Missense |
4/46 |
- |
1 |
16-2118833-CCC-GAT |
c.370_372delinsATC |
p.G124I |
Missense |
4/46 |
- |
2 |
16-2118833-CC-GT |
c.371_372delinsAC |
p.G124D |
Missense |
4/46 |
- |
1 |
16-2118834-C-G |
c.371G>C |
p.G124A |
Missense |
4/46 |
- |
1 |
16-2118835-C-G |
c.370G>C |
p.G124R |
Missense |
4/46 |
- |
1 |
16-2118835-C-T |
c.370G>A |
p.G124R |
Missense |
4/46 |
- |
1 |
16-2118837-C-G |
c.368G>C |
p.S123T |
Missense |
4/46 |
- |
1 |
16-2118837-C-T |
c.368G>A |
p.S123N |
Missense |
4/46 |
- |
1 |
16-2118837-CT-AG |
c.367_368inv |
p.S123L |
Missense |
4/46 |
- |
1 |
16-2118839-C-A |
c.366G>T |
p.L122= |
Synonymous |
4/46 |
- |
1 |
16-2118839-CAG-GAT |
c.364_366delinsATC |
p.L122I |
Missense |
4/46 |
- |
1 |
16-2118839-C-G |
c.366G>C |
p.L122= |
Synonymous |
4/46 |
- |
1 |
16-2118839-C-T |
c.366G>A |
p.L122= |
Synonymous |
4/46 |
- |
1 |
16-2118840-A-G |
c.365T>C |
p.L122P |
Missense |
4/46 |
- |
1 |
16-2118841-G-A |
c.364C>T |
p.L122= |
Synonymous |
4/46 |
- |
2 |
16-2118843-T-A |
c.362A>T |
p.N121I |
Missense |
4/46 |
- |
2 |
16-2119060-G-A |
c.359+54C>T |
- |
IntronicSNV |
- |
3/45 |
1 |
16-2119074-TGGGGTCCAGCCAGGACCCCACCCAAAGAACCACAACTTACATTTCAC-T |
c.353_359+40del |
- |
SpliceDonorDeletion |
3/46 |
3/45 |
1 |
16-2119080-C-T |
c.359+34G>A |
- |
IntronicSNV |
- |
3/45 |
1 |
16-2119112-A-C |
c.359+2T>G |
- |
IntronicSNV |
- |
3/45 |
1 |
16-2119114-A-G |
c.359T>C |
p.I120T |
Missense |
3/46 |
- |
1 |
16-2119115-T-C |
c.358A>G |
p.I120V |
Missense |
3/46 |
- |
1 |
16-2119115-T-TA |
c.357_358insT |
p.I120Yfs*9 |
SpliceDonorInsertion |
3/46 |
- |
1 |
16-2119115-T-TC |
c.357_358insG |
p.I120Dfs*9 |
SpliceDonorInsertion |
3/46 |
- |
1 |
16-2119115-T-TG |
c.357_358insC |
p.I120Hfs*9 |
SpliceDonorInsertion |
3/46 |
- |
1 |
16-2119116-T-C |
c.357A>G |
p.E119= |
Synonymous |
3/46 |
- |
1 |
16-2119114-A-AT |
c.358dup |
p.I120Nfs*9 |
SpliceDonorInsertion |
3/46 |
- |
1 |
16-2119117-T-TC |
c.355dup |
p.E119Gfs*10 |
Frameshift |
3/46 |
- |
1 |
16-2119118-C-A |
c.355G>T |
p.E119* |
Nonsense |
3/46 |
- |
1 |
16-2119119-A-C |
c.354T>G |
p.S118R |
Missense |
3/46 |
- |
1 |
16-2119119-A-T |
c.354T>A |
p.S118R |
Missense |
3/46 |
- |
1 |
16-2119121-T-G |
c.352A>C |
p.S118R |
Missense |
3/46 |
- |
1 |
16-2119120-CT-GC |
c.352_353delinsGC |
p.S118A |
Missense |
3/46 |
- |
1 |
16-2119123-A-C |
c.350T>G |
p.L117* |
Nonsense |
3/46 |
- |
1 |
16-2119123-A-G |
c.350T>C |
p.L117S |
Missense |
3/46 |
- |
1 |
16-2119123-A-T |
c.350T>A |
p.L117* |
Nonsense |
3/46 |
- |
1 |
16-2119124-A-C |
c.349T>G |
p.L117V |
Missense |
3/46 |
- |
1 |
16-2119120-CTTAAA-C |
c.348_352del |
p.N116Kfs*2 |
Frameshift |
3/46 |
- |
5 |
16-2119127-T-TA |
c.345dup |
p.N116* |
Nonsense |
3/46 |
- |
1 |
16-2119128-A-C |
c.345T>G |
p.F115L |
Missense |
3/46 |
- |
2 |
16-2119128-A-T |
c.345T>A |
p.F115L |
Missense |
3/46 |
- |
2 |
16-2119130-A-G |
c.343T>C |
p.F115L |
Missense |
3/46 |
- |
2 |
16-2119131-T-A |
c.342A>T |
p.L114F |
Missense |
3/46 |
- |
1 |
16-2119131-T-G |
c.342A>C |
p.L114F |
Missense |
3/46 |
- |
1 |
16-2119126-TTAAA-T |
c.343_346del |
p.F115Ifs*2 |
Frameshift |
3/46 |
- |
1 |
16-2119134-A-C |
c.339T>G |
p.N113K |
Missense |
3/46 |
- |
1 |
16-2119140-A-G |
c.333T>C |
p.F111= |
Synonymous |
3/46 |
- |
1 |
16-2119141-A-C |
c.332T>G |
p.F111C |
Missense |
3/46 |
- |
1 |
16-2119142-A-C |
c.331T>G |
p.F111V |
Missense |
3/46 |
- |
1 |
16-2119144-A-G |
c.329T>C |
p.I110T |
Missense |
3/46 |
- |
1 |
16-2119145-T-A |
c.328A>T |
p.I110L |
Missense |
3/46 |
- |
5 |
16-2119146-T-A |
c.327A>T |
p.G109= |
Synonymous |
3/46 |
- |
1 |
16-2119146-T-G |
c.327A>C |
p.G109= |
Synonymous |
3/46 |
- |
1 |
16-2119147-C-T |
c.326G>A |
p.G109E |
Missense |
3/46 |
- |
1 |
16-2119148-C-G |
c.325G>C |
p.G109R |
Missense |
3/46 |
- |
1 |
16-2119148-C-T |
c.325G>A |
p.G109R |
Missense |
3/46 |
- |
1 |
16-2119151-C-G |
c.322G>C |
p.E108Q |
Missense |
3/46 |
- |
1 |
16-2119152-T-A |
c.321A>T |
p.E107D |
Missense |
3/46 |
- |
1 |
16-2119147-CCTT-C |
c.323_325del |
p.E108del |
InFrameDeletion |
3/46 |
- |
1 |
16-2119156-AA-GG |
c.316_317delinsCC |
p.L106P |
Missense |
3/46 |
- |
1 |
16-2119155-T-C |
c.318A>G |
p.L106= |
Synonymous |
3/46 |
- |
1 |
16-2119157-A-G |
c.316T>C |
p.L106= |
Synonymous |
3/46 |
- |
1 |
16-2119157-A-T |
c.316T>A |
p.L106I |
Missense |
3/46 |
- |
1 |
16-2119158-C-A |
c.315G>T |
p.T105= |
Synonymous |
3/46 |
- |
1 |
16-2119158-C-G |
c.315G>C |
p.T105= |
Synonymous |
3/46 |
- |
1 |
16-2119158-CG-GT |
c.314_315delinsAC |
p.T105N |
Missense |
3/46 |
- |
1 |
16-2119158-C-T |
c.315G>A |
p.T105= |
Synonymous |
3/46 |
- |
1 |
16-2119159-G-A |
c.314C>T |
p.T105M |
Missense |
3/46 |
- |
1 |
16-2119159-G-T |
c.314C>A |
p.T105K |
Missense |
3/46 |
- |
1 |
16-2119162-G-C |
c.311C>G |
p.S104C |
Missense |
3/46 |
- |
1 |
16-2119163-A-G |
c.310T>C |
p.S104P |
Missense |
3/46 |
- |
2 |
16-2119170-G-C |
c.303C>G |
p.N101K |
Missense |
3/46 |
- |
2 |
16-2119170-G-T |
c.303C>A |
p.N101K |
Missense |
3/46 |
- |
1 |
16-2119171-T-C |
c.302A>G |
p.N101S |
Missense |
3/46 |
- |
1 |
16-2119172-T-C |
c.301A>G |
p.N101D |
Missense |
3/46 |
- |
1 |
16-2119167-CTTG-C |
c.303_305del |
p.N101del |
InFrameDeletion |
3/46 |
- |
1 |
16-2119177-C-A |
c.296G>T |
p.S99I |
Missense |
3/46 |
- |
5 |
16-2119179-T-A |
c.294A>T |
p.I98= |
Synonymous |
3/46 |
- |
1 |
16-2119179-T-C |
c.294A>G |
p.I98M |
Missense |
3/46 |
- |
1 |
16-2119179-T-G |
c.294A>C |
p.I98= |
Synonymous |
3/46 |
- |
1 |
16-2119180-A-C |
c.293T>G |
p.I98R |
Missense |
3/46 |
- |
1 |
16-2119180-A-T |
c.293T>A |
p.I98K |
Missense |
3/46 |
- |
1 |
16-2119181-T-C |
c.292A>G |
p.I98V |
Missense |
3/46 |
- |
1 |
16-2119183-T-C |
c.290A>G |
p.D97G |
Missense |
3/46 |
- |
2 |
16-2119184-C-A |
c.289G>T |
p.D97Y |
Missense |
3/46 |
- |
1 |
16-2119184-CCCTGGAAGAGACGGGGGATTCGGCAAAGCTGATGGAAGCCCCCACAGCTGAGCAGCAA-GG |
c.288-57_289delinsCC |
- |
Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution |
3/46 |
2/45 |
1 |
16-2119184-C-T |
c.289G>A |
p.D97N |
Missense |
3/46 |
- |
1 |
16-2119185-C-A |
c.288G>T |
p.L96= |
Synonymous |
3/46 |
- |
1 |
16-2119185-C-G |
c.288G>C |
p.L96= |
Synonymous |
3/46 |
- |
1 |
16-2119185-C-T |
c.288G>A |
p.L96= |
Synonymous |
3/46 |
- |
1 |
16-2119188-G-A |
c.288-3C>T |
- |
IntronicSNV |
- |
2/45 |
1 |
16-2119308-G-A |
c.286C>T |
p.L96= |
Synonymous |
2/46 |
- |
2 |
16-2119311-C-G |
c.283G>C |
p.E95Q |
Missense |
2/46 |
- |
1 |
16-2119314-C-A |
c.280G>T |
p.A94S |
Missense |
2/46 |
- |
1 |
16-2119314-C-T |
c.280G>A |
p.A94T |
Missense |
2/46 |
- |
1 |
16-2119316-A-G |
c.278T>C |
p.L93P |
Missense |
2/46 |
- |
2 |
16-2119318-C-A |
c.276G>T |
p.A92= |
Synonymous |
2/46 |
- |
2 |
16-2119318-C-G |
c.276G>C |
p.A92= |
Synonymous |
2/46 |
- |
1 |
16-2119318-C-T |
c.276G>A |
p.A92= |
Synonymous |
2/46 |
- |
2 |
16-2119319-G-A |
c.275C>T |
p.A92V |
Missense |
2/46 |
- |
2 |
16-2119319-G-C |
c.275C>G |
p.A92G |
Missense |
2/46 |
- |
1 |
16-2119317-GCGC-G |
c.274_276del |
p.A92del |
InFrameDeletion |
2/46 |
- |
1 |
16-2119320-C-A |
c.274G>T |
p.A92S |
Missense |
2/46 |
- |
1 |
16-2119320-C-T |
c.274G>A |
p.A92T |
Missense |
2/46 |
- |
2 |
16-2119322-G-A |
c.272C>T |
p.S91L |
Missense |
2/46 |
- |
3 |
16-2119323-A-G |
c.271T>C |
p.S91P |
Missense |
2/46 |
- |
1 |
16-2119323-A-T |
c.271T>A |
p.S91T |
Missense |
2/46 |
- |
1 |
16-2119321-CGA-C |
c.271_272del |
p.S91Gfs*22 |
Frameshift |
2/46 |
- |
1 |
16-2119326-G-A |
c.268C>T |
p.L90F |
Missense |
2/46 |
- |
2 |
16-2119328-T-C |
c.266A>G |
p.N89S |
Missense |
2/46 |
- |
2 |
16-2119330-C-A |
c.264G>T |
p.A88= |
Synonymous |
2/46 |
- |
1 |
16-2119330-C-G |
c.264G>C |
p.A88= |
Synonymous |
2/46 |
- |
1 |
16-2119330-C-T |
c.264G>A |
p.A88= |
Synonymous |
2/46 |
- |
1 |
16-2119331-G-A |
c.263C>T |
p.A88V |
Missense |
2/46 |
- |
4 |
16-2119335-G-T |
c.259C>A |
p.L87M |
Missense |
2/46 |
- |
3 |
16-2119338-G-T |
c.256C>A |
p.L86I |
Missense |
2/46 |
- |
1 |
16-2119339-C-G |
c.255G>C |
p.G85= |
Synonymous |
2/46 |
- |
1 |
16-2119339-C-T |
c.255G>A |
p.G85= |
Synonymous |
2/46 |
- |
1 |
16-2119340-C-A |
c.254G>T |
p.G85V |
Missense |
2/46 |
- |
1 |
16-2119341-C-G |
c.253G>C |
p.G85R |
Missense |
2/46 |
- |
1 |
16-2119341-C-T |
c.253G>A |
p.G85R |
Missense |
2/46 |
- |
2 |
16-2119343-A-C |
c.251T>G |
p.V84G |
Missense |
2/46 |
- |
1 |
16-2119343-A-G |
c.251T>C |
p.V84A |
Missense |
2/46 |
- |
2 |
16-2119343-A-T |
c.251T>A |
p.V84D |
Missense |
2/46 |
- |
1 |
16-2119344-C-T |
c.250G>A |
p.V84I |
Missense |
2/46 |
- |
2 |
16-2119346-T-C |
c.248A>G |
p.D83G |
Missense |
2/46 |
- |
1 |
16-2119346-TC-CA |
c.247_248delinsTG |
p.D83C |
Missense |
2/46 |
- |
1 |
16-2119347-C-A |
c.247G>T |
p.D83Y |
Missense |
2/46 |
- |
1 |
16-2119347-C-G |
c.247G>C |
p.D83H |
Missense |
2/46 |
- |
1 |
16-2119348-C-A |
c.246G>T |
p.L82= |
Synonymous |
2/46 |
- |
1 |
16-2119348-C-G |
c.246G>C |
p.L82= |
Synonymous |
2/46 |
- |
1 |
16-2119348-C-T |
c.246G>A |
p.L82= |
Synonymous |
2/46 |
- |
1 |
16-2119350-G-A |
c.244C>T |
p.L82= |
Synonymous |
2/46 |
- |
1 |
16-2119351-CGC-AAA |
c.241_243delinsTTT |
p.A81F |
Missense |
2/46 |
- |
1 |
16-2119351-CG-GT |
c.242_243delinsAC |
p.A81D |
Missense |
2/46 |
- |
1 |
16-2119352-G-A |
c.242C>T |
p.A81V |
Missense |
2/46 |
- |
3 |
16-2119353-C-T |
c.241G>A |
p.A81T |
Missense |
2/46 |
- |
1 |
16-2119354-CC-AT |
c.239_240delinsAT |
p.R80H |
Missense |
2/46 |
- |
1 |
16-2119354-CCG-ACA |
c.238_240delinsTGT |
p.R80C |
Missense |
2/46 |
- |
2 |
16-2119354-CCG-GAT |
c.238_240delinsATC |
p.R80I |
Missense |
2/46 |
- |
1 |
16-2119355-CG-GT |
c.238_239delinsAC |
p.R80T |
Missense |
2/46 |
- |
1 |
16-2119355-CG-TA |
c.238_239delinsTA |
p.R80* |
Nonsense |
2/46 |
- |
1 |
16-2119355-CG-TT |
c.238_239delinsAA |
p.R80K |
Missense |
2/46 |
- |
1 |
16-2119355-C-T |
c.239G>A |
p.R80Q |
Missense |
2/46 |
- |
1 |
16-2119356-G-A |
c.238C>T |
p.R80W |
Missense |
2/46 |
- |
3 |
16-2119356-G-C |
c.238C>G |
p.R80G |
Missense |
2/46 |
- |
1 |
16-2119357-G-A |
c.237C>T |
p.L79= |
Synonymous |
2/46 |
- |
1 |
16-2119357-G-C |
c.237C>G |
p.L79= |
Synonymous |
2/46 |
- |
1 |
16-2119357-G-T |
c.237C>A |
p.L79= |
Synonymous |
2/46 |
- |
1 |
16-2119360-C-G |
c.234G>C |
p.L78= |
Synonymous |
2/46 |
- |
2 |
16-2119361-A-C |
c.233T>G |
p.L78R |
Missense |
2/46 |
- |
1 |
16-2119363-G-C |
c.231C>G |
p.N77K |
Missense |
2/46 |
- |
1 |
16-2119363-G-T |
c.231C>A |
p.N77K |
Missense |
2/46 |
- |
1 |
16-2119364-T-C |
c.230A>G |
p.N77S |
Missense |
2/46 |
- |
1 |
16-2119366-G-A |
c.228C>T |
p.H76= |
Synonymous |
2/46 |
- |
1 |
16-2119368-G-A |
c.226C>T |
p.H76Y |
Missense |
2/46 |
- |
1 |
16-2119370-G-A |
c.224C>T |
p.S75F |
Missense |
2/46 |
- |
5 |
16-2119370-GA-CC |
c.223_224delinsGG |
p.S75G |
Missense |
2/46 |
- |
1 |
16-2119370-GA-TT |
c.223_224delinsAA |
p.S75N |
Missense |
2/46 |
- |
1 |
16-2119370-G-C |
c.224C>G |
p.S75C |
Missense |
2/46 |
- |
1 |
16-2119371-GA-G |
c.223del |
p.S75Pfs*24 |
Frameshift |
2/46 |
- |
1 |
16-2119373-A-C |
c.221T>G |
p.V74G |
Missense |
2/46 |
- |
1 |
16-2119373-A-G |
c.221T>C |
p.V74A |
Missense |
2/46 |
- |
1 |
16-2119374-C-G |
c.220G>C |
p.V74L |
Missense |
2/46 |
- |
1 |
16-2119375-G-T |
c.219C>A |
p.D73E |
Missense |
2/46 |
- |
1 |
16-2119457-G-A |
c.216-79C>T |
- |
IntronicSNV |
- |
1/45 |
1 |
16-2119457-G-T |
c.216-79C>A |
- |
IntronicSNV |
- |
1/45 |
1 |
16-2125372-T-C |
c.216-5994A>G |
- |
IntronicSNV |
- |
1/45 |
1 |
16-2132467-C-T |
c.215+3008G>A |
- |
IntronicSNV |
- |
1/45 |
1 |
16-2135011-C-A |
c.215+464G>T |
- |
IntronicSNV |
- |
1/45 |
1 |
16-2135011-C-G |
c.215+464G>C |
- |
IntronicSNV |
- |
1/45 |
1 |
16-2135425-G-A |
c.215+50C>T |
- |
IntronicSNV |
- |
1/45 |
1 |
16-2135448-C-T |
c.215+27G>A |
- |
IntronicSNV |
- |
1/45 |
1 |
16-2135475-A-AG |
c.214dup |
p.L72Pfs*42 |
SpliceDonorInsertion |
1/46 |
- |
2 |
16-2135476-G-A |
c.214C>T |
p.L72= |
Synonymous |
1/46 |
- |
1 |
16-2135476-G-GA |
c.213_214insT |
p.L72Sfs*42 |
SpliceDonorInsertion |
1/46 |
- |
2 |
16-2135476-G-GT |
c.213_214insA |
p.L72Tfs*42 |
SpliceDonorInsertion |
1/46 |
- |
2 |
16-2135476-G-T |
c.214C>A |
p.L72I |
Missense |
1/46 |
- |
1 |
16-2135476-G-GC |
c.213dup |
p.L72Afs*42 |
SpliceDonorInsertion |
1/46 |
- |
2 |
16-2135477-CG-GT |
c.212_213delinsAC |
p.A71D |
Missense |
1/46 |
- |
1 |
16-2135479-C-A |
c.211G>T |
p.A71S |
Missense |
1/46 |
- |
1 |
16-2135479-C-T |
c.211G>A |
p.A71T |
Missense |
1/46 |
- |
1 |
16-2135483-G-A |
c.207C>T |
p.A69= |
Synonymous |
1/46 |
- |
1 |
16-2135483-G-C |
c.207C>G |
p.A69= |
Synonymous |
1/46 |
- |
1 |
16-2135483-G-T |
c.207C>A |
p.A69= |
Synonymous |
1/46 |
- |
1 |
16-2135484-G-A |
c.206C>T |
p.A69V |
Missense |
1/46 |
- |
1 |
16-2135484-G-T |
c.206C>A |
p.A69D |
Missense |
1/46 |
- |
1 |
16-2135485-C-T |
c.205G>A |
p.A69T |
Missense |
1/46 |
- |
1 |
16-2135487-GT-G |
c.203del |
p.D68Afs*5 |
Frameshift |
1/46 |
- |
1 |
16-2135489-C-A |
c.201G>T |
p.A67= |
Synonymous |
1/46 |
- |
1 |
16-2135490-G-A |
c.200C>T |
p.A67V |
Missense |
1/46 |
- |
1 |
16-2135490-GC-TT |
c.199_200delinsAA |
p.A67K |
Missense |
1/46 |
- |
1 |
16-2135493-G-A |
c.197C>T |
p.P66L |
Missense |
1/46 |
- |
1 |
16-2135493-G-T |
c.197C>A |
p.P66H |
Missense |
1/46 |
- |
1 |
16-2135494-G-A |
c.196C>T |
p.P66S |
Missense |
1/46 |
- |
2 |
16-2135494-G-T |
c.196C>A |
p.P66T |
Missense |
1/46 |
- |
1 |
16-2135491-CG-C |
c.198del |
p.A67Rfs*6 |
Frameshift |
1/46 |
- |
1 |
16-2135495-G-A |
c.195C>T |
p.I65= |
Synonymous |
1/46 |
- |
1 |
16-2135495-G-T |
c.195C>A |
p.I65= |
Synonymous |
1/46 |
- |
1 |
16-2135496-A-G |
c.194T>C |
p.I65T |
Missense |
1/46 |
- |
1 |
16-2135496-A-T |
c.194T>A |
p.I65N |
Missense |
1/46 |
- |
3 |
16-2135498-G-A |
c.192C>T |
p.R64= |
Synonymous |
1/46 |
- |
1 |
16-2135498-GC-TT |
c.191_192delinsAA |
p.R64Q |
Missense |
1/46 |
- |
3 |
16-2135499-C-A |
c.191G>T |
p.R64L |
Missense |
1/46 |
- |
1 |
16-2135500-G-A |
c.190C>T |
p.R64C |
Missense |
1/46 |
- |
4 |
16-2135505-G-A |
c.185C>T |
p.A62V |
Missense |
1/46 |
- |
1 |
16-2135506-C-A |
c.184G>T |
p.A62S |
Missense |
1/46 |
- |
1 |
16-2135506-C-T |
c.184G>A |
p.A62T |
Missense |
1/46 |
- |
1 |
16-2135508-G-A |
c.182C>T |
p.P61L |
Missense |
1/46 |
- |
8 |
16-2135510-ACC-CTT |
c.178_180delinsAAG |
p.G60K |
Missense |
1/46 |
- |
1 |
16-2135511-C-A |
c.179G>T |
p.G60V |
Missense |
1/46 |
- |
2 |
16-2135511-C-G |
c.179G>C |
p.G60A |
Missense |
1/46 |
- |
1 |
16-2135512-C-A |
c.178G>T |
p.G60C |
Missense |
1/46 |
- |
1 |
16-2135512-C-G |
c.178G>C |
p.G60R |
Missense |
1/46 |
- |
1 |
16-2135512-C-T |
c.178G>A |
p.G60S |
Missense |
1/46 |
- |
1 |
16-2135513-G-A |
c.177C>T |
p.L59= |
Synonymous |
1/46 |
- |
1 |
16-2135515-G-A |
c.175C>T |
p.L59F |
Missense |
1/46 |
- |
1 |
16-2135515-G-C |
c.175C>G |
p.L59V |
Missense |
1/46 |
- |
1 |
16-2135516-C-A |
c.174G>T |
p.T58= |
Synonymous |
1/46 |
- |
1 |
16-2135516-C-T |
c.174G>A |
p.T58= |
Synonymous |
1/46 |
- |
1 |
16-2135516-CGTCCGCA-C |
c.167_173del |
p.L56Rfs*15 |
Frameshift |
1/46 |
- |
1 |
16-2135518-T-C |
c.172A>G |
p.T58A |
Missense |
1/46 |
- |
1 |
16-2135518-T-G |
c.172A>C |
p.T58P |
Missense |
1/46 |
- |
1 |
16-2135519-CC-AT |
c.170_171delinsAT |
p.R57H |
Missense |
1/46 |
- |
1 |
16-2135520-C-A |
c.170G>T |
p.R57L |
Missense |
1/46 |
- |
2 |
16-2135520-C-T |
c.170G>A |
p.R57Q |
Missense |
1/46 |
- |
3 |
16-2135518-TCCGCAGC-T |
c.165_171del |
p.L56Rfs*15 |
Frameshift |
1/46 |
- |
2 |
16-2135523-A-G |
c.167T>C |
p.L56P |
Missense |
1/46 |
- |
1 |
16-2135523-CA-C |
c.167del |
p.L56Rfs*17 |
Frameshift |
1/46 |
- |
1 |
16-2135526-C-G |
c.164G>C |
p.G55A |
Missense |
1/46 |
- |
1 |
16-2135528-GCG-CCA |
c.160_162delinsTGG |
p.R54W |
Missense |
1/46 |
- |
2 |
16-2135528-GC-TT |
c.161_162delinsAA |
p.R54Q |
Missense |
1/46 |
- |
2 |
16-2135529-C-G |
c.161G>C |
p.R54P |
Missense |
1/46 |
- |
2 |
16-2135529-CG-AT |
c.160_161delinsAT |
p.R54I |
Missense |
1/46 |
- |
1 |
16-2135530-G-A |
c.160C>T |
p.R54C |
Missense |
1/46 |
- |
1 |
16-2135531-G-A |
c.159C>T |
p.G53= |
Synonymous |
1/46 |
- |
1 |
16-2135533-C-A |
c.157G>T |
p.G53C |
Missense |
1/46 |
- |
1 |
16-2135533-C-G |
c.157G>C |
p.G53R |
Missense |
1/46 |
- |
1 |
16-2135533-C-T |
c.157G>A |
p.G53S |
Missense |
1/46 |
- |
1 |
16-2135534-CG-AA |
c.155_156delinsTT |
p.S52F |
Missense |
1/46 |
- |
1 |
16-2135535-G-C |
c.155C>G |
p.S52W |
Missense |
1/46 |
- |
1 |
16-2135536-A-T |
c.154T>A |
p.S52T |
Missense |
1/46 |
- |
1 |
16-2135537-G-C |
c.153C>G |
p.C51W |
Missense |
1/46 |
- |
1 |
16-2135537-G-GC |
c.152dup |
p.C51Wfs*63 |
Frameshift |
1/46 |
- |
1 |
16-2135539-A-G |
c.151T>C |
p.C51R |
Missense |
1/46 |
- |
3 |
16-2135541-T-C |
c.149A>G |
p.N50S |
Missense |
1/46 |
- |
1 |
16-2135543-GAC-CAT |
c.145_147delinsATG |
p.V49M |
Missense |
1/46 |
- |
1 |
16-2135544-A-T |
c.146T>A |
p.V49D |
Missense |
1/46 |
- |
1 |
16-2135545-C-G |
c.145G>C |
p.V49L |
Missense |
1/46 |
- |
1 |
16-2135546-GCG-CAT |
c.142_144delinsATG |
p.R48M |
Missense |
1/46 |
- |
1 |
16-2135546-GCG-CCA |
c.142_144delinsTGG |
p.R48W |
Missense |
1/46 |
- |
1 |
16-2135546-GCG-CTT |
c.142_144delinsAAG |
p.R48K |
Missense |
1/46 |
- |
2 |
16-2135547-C-T |
c.143G>A |
p.R48H |
Missense |
1/46 |
- |
1 |
16-2135548-G-A |
c.142C>T |
p.R48C |
Missense |
1/46 |
- |
1 |
16-2135554-C-G |
c.136G>C |
p.A46P |
Missense |
1/46 |
- |
1 |
16-2135554-C-T |
c.136G>A |
p.A46T |
Missense |
1/46 |
- |
1 |
16-2135556-G-A |
c.134C>T |
p.A45V |
Missense |
1/46 |
- |
1 |
16-2135559-C-T |
c.131G>A |
p.G44D |
Missense |
1/46 |
- |
1 |
16-2135560-C-A |
c.130G>T |
p.G44C |
Missense |
1/46 |
- |
1 |
16-2135560-C-G |
c.130G>C |
p.G44R |
Missense |
1/46 |
- |
1 |
16-2135561-G-A |
c.129C>T |
p.P43= |
Synonymous |
1/46 |
- |
1 |
16-2135562-G-A |
c.128C>T |
p.P43L |
Missense |
1/46 |
- |
1 |
16-2135560-CG-C |
c.129del |
p.G44Afs*29 |
Frameshift |
1/46 |
- |
1 |
16-2135563-G-A |
c.127C>T |
p.P43S |
Missense |
1/46 |
- |
1 |
16-2135564-CGC-ATA |
c.124_126delinsTAT |
p.A42Y |
Missense |
1/46 |
- |
1 |
16-2135565-G-A |
c.125C>T |
p.A42V |
Missense |
1/46 |
- |
2 |
16-2135567-TG-AT |
c.122_123delinsAT |
p.P41H |
Missense |
1/46 |
- |
1 |
16-2135568-G-A |
c.122C>T |
p.P41L |
Missense |
1/46 |
- |
1 |
16-2135568-G-C |
c.122C>G |
p.P41R |
Missense |
1/46 |
- |
1 |
16-2135569-G-A |
c.121C>T |
p.P41S |
Missense |
1/46 |
- |
1 |
16-2135569-G-T |
c.121C>A |
p.P41T |
Missense |
1/46 |
- |
1 |
16-2135570-GC-CT |
c.119_120delinsAG |
p.G40E |
Missense |
1/46 |
- |
1 |
16-2135572-C-G |
c.118G>C |
p.G40R |
Missense |
1/46 |
- |
1 |
16-2135574-C-T |
c.116G>A |
p.C39Y |
Missense |
1/46 |
- |
4 |
16-2135575-A-C |
c.115T>G |
p.C39G |
Missense |
1/46 |
- |
1 |
16-2135576-G-A |
c.114C>T |
p.L38= |
Synonymous |
1/46 |
- |
1 |
16-2135579-G-A |
c.111C>T |
p.C37= |
Synonymous |
1/46 |
- |
1 |
16-2135583-G-A |
c.107C>T |
p.P36L |
Missense |
1/46 |
- |
2 |
16-2135583-G-GA |
c.106_107insT |
p.P36Lfs*78 |
Frameshift |
1/46 |
- |
1 |
16-2135583-G-T |
c.107C>A |
p.P36H |
Missense |
1/46 |
- |
12 |
16-2135586-G-A |
c.104C>T |
p.P35L |
Missense |
1/46 |
- |
1 |
16-2135586-G-T |
c.104C>A |
p.P35H |
Missense |
1/46 |
- |
1 |
16-2135581-A-AG |
c.108dup |
p.C37Lfs*77 |
Frameshift |
1/46 |
- |
2 |
16-2135581-AG-A |
c.108del |
p.C37Afs*36 |
Frameshift |
1/46 |
- |
1 |
16-2135588-C-A |
c.102G>T |
p.E34D |
Missense |
1/46 |
- |
1 |
16-2135588-C-G |
c.102G>C |
p.E34D |
Missense |
1/46 |
- |
1 |
16-2135589-T-C |
c.101A>G |
p.E34G |
Missense |
1/46 |
- |
1 |
16-2135590-C-G |
c.100G>C |
p.E34Q |
Missense |
1/46 |
- |
1 |
16-2135590-C-T |
c.100G>A |
p.E34K |
Missense |
1/46 |
- |
1 |
16-2135591-G-A |
c.99C>T |
p.C33= |
Synonymous |
1/46 |
- |
2 |
16-2135592-CA-GC |
c.97_98delinsGC |
p.C33A |
Missense |
1/46 |
- |
2 |
16-2135594-G-A |
c.96C>T |
p.P32= |
Synonymous |
1/46 |
- |
2 |
16-2135596-G-T |
c.94C>A |
p.P32T |
Missense |
1/46 |
- |
1 |
16-2135600-G-A |
c.90C>T |
p.C30= |
Synonymous |
1/46 |
- |
1 |
16-2135600-G-T |
c.90C>A |
p.C30* |
Nonsense |
1/46 |
- |
1 |
16-2135604-C-A |
c.86G>T |
p.G29V |
Missense |
1/46 |
- |
1 |
16-2135604-C-T |
c.86G>A |
p.G29D |
Missense |
1/46 |
- |
1 |
16-2135605-C-A |
c.85G>T |
p.G29C |
Missense |
1/46 |
- |
1 |
16-2135606-GCG-CCA |
c.82_84delinsTGG |
p.R28W |
Missense |
1/46 |
- |
1 |
16-2135607-C-G |
c.83G>C |
p.R28P |
Missense |
1/46 |
- |
4 |
16-2135607-C-T |
c.83G>A |
p.R28H |
Missense |
1/46 |
- |
3 |
16-2135608-G-A |
c.82C>T |
p.R28C |
Missense |
1/46 |
- |
2 |
16-2135611-C-G |
c.79G>C |
p.G27R |
Missense |
1/46 |
- |
2 |
16-2135611-C-T |
c.79G>A |
p.G27R |
Missense |
1/46 |
- |
2 |
16-2135612-G-A |
c.78C>T |
p.P26= |
Synonymous |
1/46 |
- |
1 |
16-2135612-G-C |
c.78C>G |
p.P26= |
Synonymous |
1/46 |
- |
1 |
16-2135612-GG-TT |
c.77_78delinsAA |
p.P26Q |
Missense |
1/46 |
- |
1 |
16-2135612-G-T |
c.78C>A |
p.P26= |
Synonymous |
1/46 |
- |
1 |
16-2135613-G-A |
c.77C>T |
p.P26L |
Missense |
1/46 |
- |
1 |
16-2135613-G-T |
c.77C>A |
p.P26H |
Missense |
1/46 |
- |
1 |
16-2135611-CG-C |
c.78del |
p.R28Afs*45 |
Frameshift |
1/46 |
- |
1 |
16-2135616-C-T |
c.74G>A |
p.G25D |
Missense |
1/46 |
- |
1 |
16-2135617-C-G |
c.73G>C |
p.G25R |
Missense |
1/46 |
- |
1 |
16-2135619-C-A |
c.71G>T |
p.G24V |
Missense |
1/46 |
- |
1 |
16-2135615-GC-G |
c.74del |
p.G25Afs*48 |
Frameshift |
1/46 |
- |
1 |
16-2135615-G-GC |
c.74dup |
p.G27Rfs*87 |
Frameshift |
1/46 |
- |
1 |
16-2135622-GC-TT |
c.67_68delinsAA |
p.A23K |
Missense |
1/46 |
- |
1 |
16-2135622-G-T |
c.68C>A |
p.A23E |
Missense |
1/46 |
- |
1 |
16-2135623-C-A |
c.67G>T |
p.A23S |
Missense |
1/46 |
- |
1 |
16-2135623-C-T |
c.67G>A |
p.A23T |
Missense |
1/46 |
- |
2 |
16-2135625-A-G |
c.65T>C |
p.L22P |
Missense |
1/46 |
- |
1 |
16-2135627-C-A |
c.63G>T |
p.A21= |
Synonymous |
1/46 |
- |
4 |
16-2135627-C-G |
c.63G>C |
p.A21= |
Synonymous |
1/46 |
- |
4 |
16-2135627-CGC-AAA |
c.61_63delinsTTT |
p.A21F |
Missense |
1/46 |
- |
1 |
16-2135627-C-T |
c.63G>A |
p.A21= |
Synonymous |
1/46 |
- |
4 |
16-2135628-G-A |
c.62C>T |
p.A21V |
Missense |
1/46 |
- |
1 |
16-2135628-G-C |
c.62C>G |
p.A21G |
Missense |
1/46 |
- |
1 |
16-2135628-GC-TG |
c.61_62delinsCA |
p.A21Q |
Missense |
1/46 |
- |
1 |
16-2135630-CCC-ACA |
c.58_60delinsTGT |
p.G20C |
Missense |
1/46 |
- |
1 |
16-2135630-C-T |
c.60G>A |
p.G20= |
Synonymous |
1/46 |
- |
1 |
16-2135631-C-A |
c.59G>T |
p.G20V |
Missense |
1/46 |
- |
2 |
16-2135628-G-GC |
c.61dup |
p.A21Gfs*93 |
Frameshift |
1/46 |
- |
1 |
16-2135632-C-T |
c.58G>A |
p.G20R |
Missense |
1/46 |
- |
1 |
16-2135633-G-A |
c.57C>T |
p.L19= |
Synonymous |
1/46 |
- |
1 |
16-2135634-A-T |
c.56T>A |
p.L19H |
Missense |
1/46 |
- |
1 |
16-2135635-G-C |
c.55C>G |
p.L19V |
Missense |
1/46 |
- |
1 |
16-2135641-G-T |
c.49C>A |
p.L17M |
Missense |
1/46 |
- |
1 |
16-2135644-C-G |
c.46G>C |
p.G16R |
Missense |
1/46 |
- |
1 |
16-2135644-C-T |
c.46G>A |
p.G16S |
Missense |
1/46 |
- |
1 |
16-2135645-C-A |
c.45G>T |
p.L15= |
Synonymous |
1/46 |
- |
1 |
16-2135645-C-G |
c.45G>C |
p.L15= |
Synonymous |
1/46 |
- |
1 |
16-2135645-C-T |
c.45G>A |
p.L15= |
Synonymous |
1/46 |
- |
1 |
16-2135647-G-A |
c.43C>T |
p.L15= |
Synonymous |
1/46 |
- |
1 |
16-2135649-C-T |
c.41G>A |
p.G14D |
Missense |
1/46 |
- |
1 |
16-2135651-CA-AT |
c.38_39delinsAT |
p.L13H |
Missense |
1/46 |
- |
1 |
16-2135652-AG-GC |
c.37_38delinsGC |
p.L13A |
Missense |
1/46 |
- |
3 |
16-2135652-A-T |
c.38T>A |
p.L13Q |
Missense |
1/46 |
- |
3 |
16-2135654-GGC-CAT |
c.34_36delinsATG |
p.A12M |
Missense |
1/46 |
- |
1 |
16-2135654-GGC-TTG |
c.34_36delinsCAA |
p.A12Q |
Missense |
1/46 |
- |
1 |
16-2135654-G-T |
c.36C>A |
p.A12= |
Synonymous |
1/46 |
- |
1 |
16-2135655-G-T |
c.35C>A |
p.A12D |
Missense |
1/46 |
- |
1 |
16-2135656-C-A |
c.34G>T |
p.A12S |
Missense |
1/46 |
- |
1 |
16-2135656-C-G |
c.34G>C |
p.A12P |
Missense |
1/46 |
- |
2 |
16-2135656-C-T |
c.34G>A |
p.A12T |
Missense |
1/46 |
- |
1 |
16-2135660-CGC-ACA |
c.28_30delinsTGT |
p.A10C |
Missense |
1/46 |
- |
1 |
16-2135661-G-A |
c.29C>T |
p.A10V |
Missense |
1/46 |
- |
1 |
16-2135661-G-C |
c.29C>G |
p.A10G |
Missense |
1/46 |
- |
1 |
16-2135661-GC-AT |
c.28_29delinsAT |
p.A10M |
Missense |
1/46 |
- |
2 |
16-2135661-GC-CA |
c.28_29delinsTG |
p.A10W |
Missense |
1/46 |
- |
1 |
16-2135661-GC-TA |
c.28_29delinsTA |
p.A10* |
Nonsense |
1/46 |
- |
1 |
16-2135662-C-A |
c.28G>T |
p.A10S |
Missense |
1/46 |
- |
4 |
16-2135663-CAG-AAA |
c.25_27delinsTTT |
p.L9F |
Missense |
1/46 |
- |
1 |
16-2135667-C-A |
c.23G>T |
p.R8L |
Missense |
1/46 |
- |
1 |
16-2135667-C-G |
c.23G>C |
p.R8P |
Missense |
1/46 |
- |
1 |
16-2135667-C-T |
c.23G>A |
p.R8H |
Missense |
1/46 |
- |
1 |
16-2135668-G-A |
c.22C>T |
p.R8C |
Missense |
1/46 |
- |
1 |
16-2135670-G-A |
c.20C>T |
p.A7V |
Missense |
1/46 |
- |
1 |
16-2135674-G-A |
c.16C>T |
p.P6S |
Missense |
1/46 |
- |
1 |
16-2135668-GGGCGGGCGC-G |
c.13_21del |
p.A5_A7del |
InFrameDeletion |
1/46 |
- |
1 |
16-2135677-C-T |
c.13G>A |
p.A5T |
Missense |
1/46 |
- |
1 |
16-2135679-G-A |
c.11C>T |
p.A4V |
Missense |
1/46 |
- |
1 |
16-2135681-G-A |
c.9C>T |
p.P3= |
Synonymous |
1/46 |
- |
3 |
16-2135683-G-C |
c.7C>G |
p.P3A |
Missense |
1/46 |
- |
1 |
16-2135684-C-A |
c.6G>T |
p.P2= |
Synonymous |
1/46 |
- |
1 |
16-2135684-C-G |
c.6G>C |
p.P2= |
Synonymous |
1/46 |
- |
1 |
16-2135684-CG-AT |
c.5_6delinsAT |
p.P2H |
Missense |
1/46 |
- |
1 |
16-2135684-C-T |
c.6G>A |
p.P2= |
Synonymous |
1/46 |
- |
1 |
16-2135685-G-A |
c.5C>T |
p.P2L |
Missense |
1/46 |
- |
1 |
16-2135686-G-A |
c.4C>T |
p.P2S |
Missense |
1/46 |
- |
1 |
16-2135687-C-T |
c.3G>A |
p.M1? |
Missense |
1/46 |
- |
3 |
16-2135687-GC-G |
c.3del |
p.M1? |
CdsStartDeletion |
1/46 |
- |
1 |
16-2135688-A-T |
c.2T>A |
p.M1? |
Missense |
1/46 |
- |
1 |
16-2135688-A-AT |
c.1dup |
p.M1Nfs*? |
CdsStartInsertion |
1/46 |
- |
1 |