11-22214765-G-A |
c.-274G>A |
- |
5-UTRSNV |
1/22 |
- |
1 |
11-22214765-G-C |
c.-274G>C |
- |
5-UTRSNV |
1/22 |
- |
1 |
11-22214778-A-C |
c.-261A>C |
- |
5-UTRSNV |
1/22 |
- |
2 |
11-22214822-G-A |
c.-217G>A |
- |
5-UTRSNV |
1/22 |
- |
1 |
11-22214822-G-T |
c.-217G>T |
- |
5-UTRSNV |
1/22 |
- |
1 |
11-22214829-G-C |
c.-210G>C |
- |
5-UTRSNV |
1/22 |
- |
1 |
11-22214867-G-T |
c.-172G>T |
- |
5-UTRSNV |
1/22 |
- |
1 |
11-22214877-A-C |
c.-162A>C |
- |
5-UTRSNV |
1/22 |
- |
5 |
11-22214877-A-G |
c.-162A>G |
- |
5-UTRSNV |
1/22 |
- |
5 |
11-22214877-A-AAGG |
c.-158_-156dup |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214877-A-AAGGAGGAGGGGAATGAGGAAGAGG |
c.-156_-155insAGGGGAATGAGGAAGAGGAGGAGG |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214877-A-AAGGAGGAGGGGAATGAGGAGGAAG |
c.-156_-155insAGGGGAATGAGGAGGAAGAGGAGG |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214877-A-AAGGAGGAGGGGAATGAGGAGGAGG |
c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214877-A-AAGGAGGAGGGGAATGAGGAGGAGGAGG |
c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGGAGG |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214877-A-AAGGAGGAGGGGAATGATGAGGAGG |
c.-156_-155insAGGGGAATGATGAGGAGGAGGAGG |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214877-A-AAGGAGGAGGGGAATGGGGAGGAGG |
c.-156_-155insAGGGGAATGGGGAGGAGGAGGAGG |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214877-A-AAGGAGGAGGGTAATGAGGAGGAGG |
c.-156_-155insAGGGTAATGAGGAGGAGGAGGAGG |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214877-A-AAGGAGGGGAATGAGGAGGAGG |
c.-156_-155insGGAATGAGGAGGAGGAGGAGG |
- |
5-UTRInsertion |
1/22 |
- |
2 |
11-22214903-G-A |
c.-136G>A |
- |
5-UTRSNV |
1/22 |
- |
15 |
11-22214903-G-C |
c.-136G>C |
- |
5-UTRSNV |
1/22 |
- |
15 |
11-22215040-T-G |
c.2T>G |
p.M1? |
Missense |
1/22 |
- |
1 |
11-22215041-G-A |
c.3G>A |
p.M1? |
Missense |
1/22 |
- |
3 |
11-22215047-C-T |
c.9C>T |
p.D3= |
Synonymous |
1/22 |
- |
2 |
11-22215049-C-G |
c.11C>G |
p.P4R |
Missense |
1/22 |
- |
1 |
11-22215049-C-T |
c.11C>T |
p.P4L |
Missense |
1/22 |
- |
1 |
11-22215050-G-A |
c.12G>A |
p.P4= |
Synonymous |
1/22 |
- |
1 |
11-22215050-G-C |
c.12G>C |
p.P4= |
Synonymous |
1/22 |
- |
1 |
11-22215050-G-T |
c.12G>T |
p.P4= |
Synonymous |
1/22 |
- |
1 |
11-22215054-C-T |
c.16C>T |
p.L6F |
Missense |
1/22 |
- |
5 |
11-22215055-T-C |
c.17T>C |
p.L6P |
Missense |
1/22 |
- |
1 |
11-22215060-G-A |
c.22G>A |
p.E8K |
Missense |
1/22 |
- |
1 |
11-22215060-G-C |
c.22G>C |
p.E8Q |
Missense |
1/22 |
- |
1 |
11-22215065-G-A |
c.27G>A |
p.V9= |
Synonymous |
1/22 |
- |
3 |
11-22215065-G-C |
c.27G>C |
p.V9= |
Synonymous |
1/22 |
- |
2 |
11-22215065-G-T |
c.27G>T |
p.V9= |
Synonymous |
1/22 |
- |
2 |
11-22215069-G-C |
c.31G>C |
p.A11P |
Missense |
1/22 |
- |
1 |
11-22215069-GCG-AAC |
c.31_33delinsAAC |
p.A11N |
Missense |
1/22 |
- |
1 |
11-22215070-C-A |
c.32C>A |
p.A11E |
Missense |
1/22 |
- |
3 |
11-22215070-C-G |
c.32C>G |
p.A11G |
Missense |
1/22 |
- |
2 |
11-22215070-C-T |
c.32C>T |
p.A11V |
Missense |
1/22 |
- |
1 |
11-22215070-CGGAG-C |
c.34_37del |
p.E12Kfs*9 |
Frameshift |
1/22 |
- |
1 |
11-22215072-G-A |
c.34G>A |
p.E12K |
Missense |
1/22 |
- |
1 |
11-22215070-CGGA-C |
c.36_38del |
p.E13del |
InFrameDeletion |
1/22 |
- |
1 |
11-22221240-C-A |
c.41-4110C>A |
- |
IntronicSNV |
- |
1/21 |
1 |
11-22225349-G-A |
c.41-1G>A |
- |
IntronicSNV |
- |
1/21 |
1 |
11-22225350-G-A |
c.41G>A |
p.G14E |
Missense |
2/22 |
- |
7 |
11-22225351-G-A |
c.42G>A |
p.G14= |
Synonymous |
2/22 |
- |
1 |
11-22225351-G-T |
c.42G>T |
p.G14= |
Synonymous |
2/22 |
- |
1 |
11-22225352-G-A |
c.43G>A |
p.E15K |
Missense |
2/22 |
- |
3 |
11-22225353-A-G |
c.44A>G |
p.E15G |
Missense |
2/22 |
- |
1 |
11-22225355-A-C |
c.46A>C |
p.K16Q |
Missense |
2/22 |
- |
1 |
11-22225356-A-C |
c.47A>C |
p.K16T |
Missense |
2/22 |
- |
1 |
11-22225362-A-G |
c.53A>G |
p.N18S |
Missense |
2/22 |
- |
1 |
11-22225370-A-C |
c.61A>C |
p.I21L |
Missense |
2/22 |
- |
1 |
11-22225370-A-T |
c.61A>T |
p.I21L |
Missense |
2/22 |
- |
1 |
11-22225372-A-G |
c.63A>G |
p.I21M |
Missense |
2/22 |
- |
1 |
11-22225375-C-T |
c.66C>T |
p.D22= |
Synonymous |
2/22 |
- |
1 |
11-22225377-A-T |
c.68A>T |
p.Y23F |
Missense |
2/22 |
- |
4 |
11-22225378-C-A |
c.69C>A |
p.Y23* |
Nonsense |
2/22 |
- |
2 |
11-22225380-C-A |
c.71C>A |
p.S24Y |
Missense |
2/22 |
- |
2 |
11-22225380-C-T |
c.71C>T |
p.S24F |
Missense |
2/22 |
- |
1 |
11-22225382-T-C |
c.73T>C |
p.F25L |
Missense |
2/22 |
- |
1 |
11-22225384-C-G |
c.75C>G |
p.F25L |
Missense |
2/22 |
- |
1 |
11-22225384-C-A |
c.75C>A |
p.F25L |
Missense |
2/22 |
- |
2 |
11-22225385-C-T |
c.76C>T |
p.Q26* |
Nonsense |
2/22 |
- |
3 |
11-22225386-A-C |
c.77A>C |
p.Q26P |
Missense |
2/22 |
- |
1 |
11-22225386-A-G |
c.77A>G |
p.Q26R |
Missense |
2/22 |
- |
1 |
11-22225393-T-A |
c.84T>A |
p.S28R |
Missense |
2/22 |
- |
2 |
11-22225393-T-C |
c.84T>C |
p.S28= |
Synonymous |
2/22 |
- |
1 |
11-22225396-G-C |
c.87G>C |
p.E29D |
Missense |
2/22 |
- |
1 |
11-22225398-T-G |
c.87+2T>G |
- |
IntronicSNV |
- |
2/21 |
1 |
11-22225490-A-G |
c.87+94A>G |
- |
IntronicSNV |
- |
2/21 |
1 |
11-22226505-A-G |
c.87+1109A>G |
- |
IntronicSNV |
- |
2/21 |
1 |
11-22226848-A-G |
c.87+1452A>G |
- |
IntronicSNV |
- |
2/21 |
1 |
11-22226884-T-C |
c.87+1488T>C |
- |
IntronicSNV |
- |
2/21 |
1 |
11-22232810-C-G |
c.88C>G |
p.Q30E |
Missense |
3/22 |
- |
1 |
11-22232810-C-T |
c.88C>T |
p.Q30* |
Nonsense |
3/22 |
- |
2 |
11-22232811-A-T |
c.89A>T |
p.Q30L |
Missense |
3/22 |
- |
1 |
11-22232812-G-C |
c.90G>C |
p.Q30H |
Missense |
3/22 |
- |
1 |
11-22232814-G-A |
c.92G>A |
p.S31N |
Missense |
3/22 |
- |
1 |
11-22232816-C-G |
c.94C>G |
p.L32V |
Missense |
3/22 |
- |
1 |
11-22232816-C-T |
c.94C>T |
p.L32= |
Synonymous |
3/22 |
- |
1 |
11-22232818-G-A |
c.96G>A |
p.L32= |
Synonymous |
3/22 |
- |
1 |
11-22232818-G-C |
c.96G>C |
p.L32= |
Synonymous |
3/22 |
- |
1 |
11-22232818-G-T |
c.96G>T |
p.L32= |
Synonymous |
3/22 |
- |
1 |
11-22232821-C-A |
c.99C>A |
p.S33R |
Missense |
3/22 |
- |
1 |
11-22232823-G-C |
c.101G>C |
p.S34T |
Missense |
3/22 |
- |
4 |
11-22232826-G-A |
c.104G>A |
p.R35K |
Missense |
3/22 |
- |
1 |
11-22232827-A-G |
c.105A>G |
p.R35= |
Synonymous |
3/22 |
- |
1 |
11-22232828-G-T |
c.106G>T |
p.E36* |
Nonsense |
3/22 |
- |
1 |
11-22232832-C-T |
c.110C>T |
p.T37I |
Missense |
3/22 |
- |
1 |
11-22232836-C-G |
c.114C>G |
p.S38R |
Missense |
3/22 |
- |
1 |
11-22232838-T-G |
c.116T>G |
p.F39C |
Missense |
3/22 |
- |
1 |
11-22232842-C-A |
c.120C>A |
p.L40= |
Synonymous |
3/22 |
- |
1 |
11-22232842-C-G |
c.120C>G |
p.L40= |
Synonymous |
3/22 |
- |
1 |
11-22232842-C-T |
c.120C>T |
p.L40= |
Synonymous |
3/22 |
- |
1 |
11-22232845-C-G |
c.123C>G |
p.I41M |
Missense |
3/22 |
- |
1 |
11-22232845-C-T |
c.123C>T |
p.I41= |
Synonymous |
3/22 |
- |
1 |
11-22232846-A-C |
c.124A>C |
p.N42H |
Missense |
3/22 |
- |
1 |
11-22232849-G-A |
c.127G>A |
p.E43K |
Missense |
3/22 |
- |
2 |
11-22232849-G-C |
c.127G>C |
p.E43Q |
Missense |
3/22 |
- |
1 |
11-22232851-A-C |
c.129A>C |
p.E43D |
Missense |
3/22 |
- |
1 |
11-22232851-A-T |
c.129A>T |
p.E43D |
Missense |
3/22 |
- |
1 |
11-22232848-TGAA-T |
c.130_132del |
p.E44del |
InFrameDeletion |
3/22 |
- |
1 |
11-22232852-G-A |
c.130G>A |
p.E44K |
Missense |
3/22 |
- |
3 |
11-22232854-A-G |
c.132A>G |
p.E44= |
Synonymous |
3/22 |
- |
1 |
11-22232858-A-G |
c.136A>G |
p.M46V |
Missense |
3/22 |
- |
1 |
11-22232859-T-C |
c.137T>C |
p.M46T |
Missense |
3/22 |
- |
1 |
11-22232982-G-T |
c.138+122G>T |
- |
IntronicSNV |
- |
3/21 |
1 |
11-22233029-G-A |
c.138+169G>A |
- |
IntronicSNV |
- |
3/21 |
3 |
11-22233029-G-T |
c.138+169G>T |
- |
IntronicSNV |
- |
3/21 |
2 |
11-22233066-T-C |
c.138+206T>C |
- |
IntronicSNV |
- |
3/21 |
2 |
11-22233928-T-C |
c.138+1068T>C |
- |
IntronicSNV |
- |
3/21 |
1 |
11-22234987-AT-A |
c.138+2138del |
- |
IntronicDeletion |
- |
3/21 |
1 |
11-22235169-CT-C |
c.138+2319del |
- |
IntronicDeletion |
- |
3/21 |
1 |
11-22239663-A-G |
c.139-129A>G |
- |
IntronicSNV |
- |
3/21 |
2 |
11-22239663-A-T |
c.139-129A>T |
- |
IntronicSNV |
- |
3/21 |
2 |
11-22239792-C-T |
c.139C>T |
p.P47S |
Missense |
4/22 |
- |
3 |
11-22239793-C-A |
c.140C>A |
p.P47H |
Missense |
4/22 |
- |
1 |
11-22239795-G-A |
c.142G>A |
p.A48T |
Missense |
4/22 |
- |
2 |
11-22239795-GCA-TAT |
c.142_144delinsTAT |
p.A48Y |
Missense |
4/22 |
- |
1 |
11-22239796-C-T |
c.143C>T |
p.A48V |
Missense |
4/22 |
- |
1 |
11-22239797-A-G |
c.144A>G |
p.A48= |
Synonymous |
4/22 |
- |
1 |
11-22239801-C-A |
c.148C>A |
p.R50= |
Synonymous |
4/22 |
- |
1 |
11-22239801-C-T |
c.148C>T |
p.R50* |
Nonsense |
4/22 |
- |
8 |
11-22239803-A-C |
c.150A>C |
p.R50= |
Synonymous |
4/22 |
- |
1 |
11-22239803-A-G |
c.150A>G |
p.R50= |
Synonymous |
4/22 |
- |
1 |
11-22239803-A-T |
c.150A>T |
p.R50= |
Synonymous |
4/22 |
- |
1 |
11-22239802-G-A |
c.149G>A |
p.R50Q |
Missense |
4/22 |
- |
3 |
11-22239808-A-G |
c.155A>G |
p.N52S |
Missense |
4/22 |
- |
17 |
11-22239811-T-C |
c.158T>C |
p.L53S |
Missense |
4/22 |
- |
1 |
11-22239812-G-C |
c.159G>C |
p.L53F |
Missense |
4/22 |
- |
1 |
11-22239812-G-T |
c.159G>T |
p.L53F |
Missense |
4/22 |
- |
3 |
11-22239813-T-G |
c.160T>G |
p.F54V |
Missense |
4/22 |
- |
5 |
11-22239814-T-C |
c.161T>C |
p.F54S |
Missense |
4/22 |
- |
3 |
11-22239815-C-T |
c.162C>T |
p.F54= |
Synonymous |
4/22 |
- |
2 |
11-22239818-G-C |
c.165G>C |
p.L55= |
Synonymous |
4/22 |
- |
1 |
11-22239820-G-A |
c.167G>A |
p.R56K |
Missense |
4/22 |
- |
1 |
11-22239819-A-C |
c.166A>C |
p.R56= |
Synonymous |
4/22 |
- |
1 |
11-22239821-G-A |
c.168G>A |
p.R56= |
Synonymous |
4/22 |
- |
1 |
11-22239821-G-C |
c.168G>C |
p.R56S |
Missense |
4/22 |
- |
3 |
11-22239821-G-T |
c.168G>T |
p.R56S |
Missense |
4/22 |
- |
1 |
11-22239822-C-T |
c.169C>T |
p.R57W |
Missense |
4/22 |
- |
10 |
11-22239823-G-A |
c.170G>A |
p.R57Q |
Missense |
4/22 |
- |
1 |
11-22239823-G-T |
c.170G>T |
p.R57L |
Missense |
4/22 |
- |
1 |
11-22239825-C-G |
c.172C>G |
p.R58G |
Missense |
4/22 |
- |
1 |
11-22239825-C-T |
c.172C>T |
p.R58W |
Missense |
4/22 |
- |
22 |
11-22239829-T-G |
c.176T>G |
p.L59R |
Missense |
4/22 |
- |
1 |
11-22239831-A-G |
c.178A>G |
p.M60V |
Missense |
4/22 |
- |
1 |
11-22239833-G-A |
c.180G>A |
p.M60I |
Missense |
4/22 |
- |
1 |
11-22239833-G-C |
c.180G>C |
p.M60I |
Missense |
4/22 |
- |
1 |
11-22239833-G-T |
c.180G>T |
p.M60I |
Missense |
4/22 |
- |
1 |
11-22239834-G-A |
c.180+1G>A |
- |
IntronicSNV |
- |
4/21 |
1 |
11-22239835-T-C |
c.180+2T>C |
- |
IntronicSNV |
- |
4/21 |
2 |
11-22239956-G-A |
c.180+123G>A |
- |
IntronicSNV |
- |
4/21 |
1 |
11-22240056-G-A |
c.180+223G>A |
- |
IntronicSNV |
- |
4/21 |
2 |
11-22240112-T-C |
c.180+279T>C |
- |
IntronicSNV |
- |
4/21 |
1 |
11-22240216-C-A |
c.180+383C>A |
- |
IntronicSNV |
- |
4/21 |
1 |
11-22242644-T-G |
c.182T>G |
p.F61C |
Missense |
5/22 |
- |
1 |
11-22242646-C-T |
c.184C>T |
p.Q62* |
Nonsense |
5/22 |
- |
2 |
11-22242647-A-G |
c.185A>G |
p.Q62R |
Missense |
5/22 |
- |
1 |
11-22242648-A-G |
c.186A>G |
p.Q62= |
Synonymous |
5/22 |
- |
1 |
11-22242651-A-AT |
c.189_190insT |
p.N64* |
Nonsense |
5/22 |
- |
1 |
11-22242651-A-C |
c.189A>C |
p.K63N |
Missense |
5/22 |
- |
1 |
11-22242646-CA-C |
c.191del |
p.N64Ifs*27 |
Frameshift |
5/22 |
- |
2 |
11-22242646-C-CA |
c.191dup |
p.N64Kfs*15 |
Frameshift |
5/22 |
- |
49 |
11-22242654-T-A |
c.192T>A |
p.N64K |
Missense |
5/22 |
- |
6 |
11-22242654-T-G |
c.192T>G |
p.N64K |
Missense |
5/22 |
- |
6 |
11-22242655-C-G |
c.193C>G |
p.Q65E |
Missense |
5/22 |
- |
1 |
11-22242655-C-T |
c.193C>T |
p.Q65* |
Nonsense |
5/22 |
- |
7 |
11-22242657-G-A |
c.195G>A |
p.Q65= |
Synonymous |
5/22 |
- |
1 |
11-22242659-A-G |
c.197A>G |
p.Q66R |
Missense |
5/22 |
- |
1 |
11-22242655-CAGCAA-C |
c.201_205del |
p.S67Rfs*10 |
Frameshift |
5/22 |
- |
1 |
11-22242667-G-A |
c.205G>A |
p.D69N |
Missense |
5/22 |
- |
1 |
11-22242668-A-T |
c.206A>T |
p.D69V |
Missense |
5/22 |
- |
1 |
11-22242673-A-G |
c.211A>G |
p.I71V |
Missense |
5/22 |
- |
1 |
11-22242675-C-A |
c.213C>A |
p.I71= |
Synonymous |
5/22 |
- |
2 |
11-22242675-C-T |
c.213C>T |
p.I71= |
Synonymous |
5/22 |
- |
1 |
11-22242678-C-A |
c.216C>A |
p.F72L |
Missense |
5/22 |
- |
1 |
11-22242678-C-G |
c.216C>G |
p.F72L |
Missense |
5/22 |
- |
1 |
11-22242678-C-T |
c.216C>T |
p.F72= |
Synonymous |
5/22 |
- |
1 |
11-22242681-C-T |
c.219C>T |
p.F73= |
Synonymous |
5/22 |
- |
1 |
11-22242682-C-T |
c.220C>T |
p.R74* |
Nonsense |
5/22 |
- |
9 |
11-22242683-G-A |
c.221G>A |
p.R74Q |
Missense |
5/22 |
- |
1 |
11-22242683-G-T |
c.221G>T |
p.R74L |
Missense |
5/22 |
- |
3 |
11-22242685-G-A |
c.223G>A |
p.D75N |
Missense |
5/22 |
- |
1 |
11-22242685-GA-TG |
c.223_224delinsTG |
p.D75C |
Missense |
5/22 |
- |
1 |
11-22242686-A-C |
c.224A>C |
p.D75A |
Missense |
5/22 |
- |
1 |
11-22242688-G-A |
c.226G>A |
p.G76R |
Missense |
5/22 |
- |
3 |
11-22242689-G-A |
c.227G>A |
p.G76E |
Missense |
5/22 |
- |
1 |
11-22242690-G-A |
c.228G>A |
p.G76= |
Synonymous |
5/22 |
- |
2 |
11-22242690-G-C |
c.228G>C |
p.G76= |
Synonymous |
5/22 |
- |
2 |
11-22242690-G-T |
c.228G>T |
p.G76= |
Synonymous |
5/22 |
- |
2 |
11-22242692-T-C |
c.230T>C |
p.I77T |
Missense |
5/22 |
- |
2 |
11-22242694-AG-CT |
c.232_233inv |
p.R78L |
Missense |
5/22 |
- |
1 |
11-22242695-G-A |
c.233G>A |
p.R78K |
Missense |
5/22 |
- |
1 |
11-22242699-A-G |
c.237A>G |
p.Q79= |
Synonymous |
5/22 |
- |
1 |
11-22242703-G-A |
c.241G>A |
p.D81N |
Missense |
5/22 |
- |
1 |
11-22242703-G-C |
c.241G>C |
p.D81H |
Missense |
5/22 |
- |
1 |
11-22242704-A-G |
c.242A>G |
p.D81G |
Missense |
5/22 |
- |
8 |
11-22242707-T-C |
c.245T>C |
p.F82S |
Missense |
5/22 |
- |
3 |
11-22242709-G-A |
c.247G>A |
p.V83M |
Missense |
5/22 |
- |
2 |
11-22242711-G-T |
c.249G>T |
p.V83= |
Synonymous |
5/22 |
- |
1 |
11-22242714-T-A |
c.252T>A |
p.L84= |
Synonymous |
5/22 |
- |
1 |
11-22242714-T-C |
c.252T>C |
p.L84= |
Synonymous |
5/22 |
- |
1 |
11-22242714-T-G |
c.252T>G |
p.L84= |
Synonymous |
5/22 |
- |
1 |
11-22242716-C-T |
c.254C>T |
p.S85F |
Missense |
5/22 |
- |
4 |
11-22242720-C-A |
c.258C>A |
p.Y86* |
Nonsense |
5/22 |
- |
1 |
11-22242720-C-G |
c.258C>G |
p.Y86* |
Nonsense |
5/22 |
- |
1 |
11-22242720-C-T |
c.258C>T |
p.Y86= |
Synonymous |
5/22 |
- |
3 |
11-22242721-G-A |
c.259G>A |
p.V87I |
Missense |
5/22 |
- |
7 |
11-22242721-G-C |
c.259G>C |
p.V87L |
Missense |
5/22 |
- |
1 |
11-22242725-A-G |
c.263A>G |
p.D88G |
Missense |
5/22 |
- |
1 |
11-22242726-T-C |
c.264T>C |
p.D88= |
Synonymous |
5/22 |
- |
9 |
11-22242729-T-A |
c.267T>A |
p.D89E |
Missense |
5/22 |
- |
4 |
11-22242729-T-C |
c.267T>C |
p.D89= |
Synonymous |
5/22 |
- |
24 |
11-22242730-G-A |
c.268G>A |
p.V90I |
Missense |
5/22 |
- |
4 |
11-22242733-A-T |
c.271A>T |
p.K91* |
Nonsense |
5/22 |
- |
1 |
11-22242734-A-G |
c.272A>G |
p.K91R |
Missense |
5/22 |
- |
3 |
11-22242735-G-A |
c.273G>A |
p.K91= |
Synonymous |
5/22 |
- |
1 |
11-22242741-C-A |
c.279C>A |
p.D93E |
Missense |
5/22 |
- |
2 |
11-22242741-C-G |
c.279C>G |
p.D93E |
Missense |
5/22 |
- |
4 |
11-22242742-G-A |
c.280G>A |
p.A94T |
Missense |
5/22 |
- |
2 |
11-22242745-G-A |
c.283G>A |
p.E95K |
Missense |
5/22 |
- |
1 |
11-22242746-A-T |
c.284A>T |
p.E95V |
Missense |
5/22 |
- |
1 |
11-22242755-C-T |
c.293C>T |
p.A98V |
Missense |
5/22 |
- |
1 |
11-22242756-G-A |
c.294G>A |
p.A98= |
Synonymous |
5/22 |
- |
4 |
11-22242756-G-C |
c.294G>C |
p.A98= |
Synonymous |
5/22 |
- |
2 |
11-22242756-G-T |
c.294G>T |
p.A98= |
Synonymous |
5/22 |
- |
2 |
11-22242757-G-A |
c.294+1G>A |
- |
IntronicSNV |
- |
5/21 |
1 |
11-22242761-G-A |
c.294+5G>A |
- |
IntronicSNV |
- |
5/21 |
1 |
11-22244186-T-G |
c.294+1430T>G |
- |
IntronicSNV |
- |
5/21 |
1 |
11-22247205-A-G |
c.295-325A>G |
- |
IntronicSNV |
- |
5/21 |
1 |
11-22247530-G-A |
c.295G>A |
p.E99K |
Missense |
6/22 |
- |
1 |
11-22247530-G-GT |
c.295_296insT |
p.E99Vfs*7 |
SpliceAcceptorInsertion |
6/22 |
- |
1 |
11-22247531-A-C |
c.296A>C |
p.E99A |
Missense |
6/22 |
- |
1 |
11-22247531-A-G |
c.296A>G |
p.E99G |
Missense |
6/22 |
- |
2 |
11-22247534-AG-A |
c.299del |
p.R100Kfs*18 |
Frameshift |
6/22 |
- |
1 |
11-22247534-G-A |
c.299G>A |
p.R100K |
Missense |
6/22 |
- |
2 |
11-22247537-G-A |
c.302G>A |
p.R101K |
Missense |
6/22 |
- |
1 |
11-22247538-A-C |
c.303A>C |
p.R101S |
Missense |
6/22 |
- |
1 |
11-22247534-GAAGAA-G |
c.304_308del |
p.K102Vfs*2 |
Frameshift |
6/22 |
- |
2 |
11-22247542-G-A |
c.307G>A |
p.E103K |
Missense |
6/22 |
- |
1 |
11-22247552-C-A |
c.317C>A |
p.T106N |
Missense |
6/22 |
- |
1 |
11-22247553-T-A |
c.318T>A |
p.T106= |
Synonymous |
6/22 |
- |
1 |
11-22247553-T-C |
c.318T>C |
p.T106= |
Synonymous |
6/22 |
- |
1 |
11-22247553-T-G |
c.318T>G |
p.T106= |
Synonymous |
6/22 |
- |
1 |
11-22247557-C-A |
c.322C>A |
p.L108I |
Missense |
6/22 |
- |
1 |
11-22247558-T-G |
c.323T>G |
p.L108R |
Missense |
6/22 |
- |
1 |
11-22247560-AGA-TGG |
c.325_327delinsTGG |
p.R109W |
Missense |
6/22 |
- |
1 |
11-22247564-A-C |
c.329A>C |
p.K110T |
Missense |
6/22 |
- |
1 |
11-22247572-C-A |
c.337C>A |
p.L113I |
Missense |
6/22 |
- |
4 |
11-22247572-C-G |
c.337C>G |
p.L113V |
Missense |
6/22 |
- |
4 |
11-22247572-C-T |
c.337C>T |
p.L113F |
Missense |
6/22 |
- |
4 |
11-22247572-TC-T |
c.337del |
p.E114Sfs*4 |
Frameshift |
6/22 |
- |
1 |
11-22247577-G-C |
c.342G>C |
p.E114D |
Missense |
6/22 |
- |
1 |
11-22247577-G-T |
c.342G>T |
p.E114D |
Missense |
6/22 |
- |
1 |
11-22247578-T-C |
c.343T>C |
p.L115= |
Synonymous |
6/22 |
- |
1 |
11-22247580-G-A |
c.345G>A |
p.L115= |
Synonymous |
6/22 |
- |
1 |
11-22247581-G-A |
c.346G>A |
p.E116K |
Missense |
6/22 |
- |
1 |
11-22247587-AG-A |
c.352del |
p.E118Kfs*23 |
Frameshift |
6/22 |
- |
1 |
11-22247587-G-C |
c.352G>C |
p.E118Q |
Missense |
6/22 |
- |
1 |
11-22247590-G-A |
c.355G>A |
p.D119N |
Missense |
6/22 |
- |
1 |
11-22247598-G-A |
c.363G>A |
p.R121= |
Synonymous |
6/22 |
- |
1 |
11-22247596-AG-A |
c.363+1del |
- |
IntronicDeletion |
- |
6/21 |
1 |
11-22248848-G-A |
c.364G>A |
p.D122N |
Missense |
7/22 |
- |
1 |
11-22248849-A-T |
c.365A>T |
p.D122V |
Missense |
7/22 |
- |
1 |
11-22248852-C-T |
c.368C>T |
p.S123L |
Missense |
7/22 |
- |
1 |
11-22248853-G-A |
c.369G>A |
p.S123= |
Synonymous |
7/22 |
- |
1 |
11-22248854-G-A |
c.370G>A |
p.E124K |
Missense |
7/22 |
- |
4 |
11-22248854-G-T |
c.370G>T |
p.E124* |
Nonsense |
7/22 |
- |
1 |
11-22248855-A-T |
c.371A>T |
p.E124V |
Missense |
7/22 |
- |
1 |
11-22248857-G-A |
c.373G>A |
p.D125N |
Missense |
7/22 |
- |
2 |
11-22248857-G-C |
c.373G>C |
p.D125H |
Missense |
7/22 |
- |
4 |
11-22248861-G-A |
c.377G>A |
p.G126E |
Missense |
7/22 |
- |
1 |
11-22248861-G-T |
c.377G>T |
p.G126V |
Missense |
7/22 |
- |
1 |
11-22248863-AGA-TGT |
c.379_381delinsTGT |
p.R127C |
Missense |
7/22 |
- |
1 |
11-22248864-G-T |
c.380G>T |
p.R127I |
Missense |
7/22 |
- |
2 |
11-22248866-A-C |
c.382A>C |
p.T128P |
Missense |
7/22 |
- |
1 |
11-22248867-C-A |
c.383C>A |
p.T128N |
Missense |
7/22 |
- |
1 |
11-22248868-T-A |
c.384T>A |
p.T128= |
Synonymous |
7/22 |
- |
1 |
11-22248868-T-C |
c.384T>C |
p.T128= |
Synonymous |
7/22 |
- |
1 |
11-22248868-T-G |
c.384T>G |
p.T128= |
Synonymous |
7/22 |
- |
1 |
11-22248869-T-A |
c.385T>A |
p.Y129N |
Missense |
7/22 |
- |
1 |
11-22248869-T-C |
c.385T>C |
p.Y129H |
Missense |
7/22 |
- |
1 |
11-22248879-A-T |
c.395A>T |
p.K132M |
Missense |
7/22 |
- |
2 |
11-22248881-A-T |
c.397A>T |
p.I133F |
Missense |
7/22 |
- |
3 |
11-22248885-A-C |
c.401A>C |
p.H134P |
Missense |
7/22 |
- |
1 |
11-22248885-A-G |
c.401A>G |
p.H134R |
Missense |
7/22 |
- |
1 |
11-22248888-C-G |
c.404C>G |
p.A135G |
Missense |
7/22 |
- |
1 |
11-22248888-C-T |
c.404C>T |
p.A135V |
Missense |
7/22 |
- |
1 |
11-22248889-C-T |
c.405C>T |
p.A135= |
Synonymous |
7/22 |
- |
3 |
11-22248891-C-T |
c.407C>T |
p.P136L |
Missense |
7/22 |
- |
1 |
11-22248894-G-A |
c.410G>A |
p.W137* |
Nonsense |
7/22 |
- |
1 |
11-22248895-G-A |
c.411G>A |
p.W137* |
Nonsense |
7/22 |
- |
2 |
11-22248895-G-C |
c.411G>C |
p.W137C |
Missense |
7/22 |
- |
3 |
11-22248895-G-T |
c.411G>T |
p.W137C |
Missense |
7/22 |
- |
2 |
11-22248896-G-A |
c.412G>A |
p.E138K |
Missense |
7/22 |
- |
9 |
11-22248896-G-C |
c.412G>C |
p.E138Q |
Missense |
7/22 |
- |
1 |
11-22248896-G-T |
c.412G>T |
p.E138* |
Nonsense |
7/22 |
- |
1 |
11-22248897-A-G |
c.413A>G |
p.E138G |
Missense |
7/22 |
- |
1 |
11-22248897-A-T |
c.413A>T |
p.E138V |
Missense |
7/22 |
- |
1 |
11-22248898-G-C |
c.414G>C |
p.E138D |
Missense |
7/22 |
- |
1 |
11-22248898-G-T |
c.414G>T |
p.E138D |
Missense |
7/22 |
- |
1 |
11-22248899-G-T |
c.415G>T |
p.V139L |
Missense |
7/22 |
- |
1 |
11-22248904-A-C |
c.420A>C |
p.L140F |
Missense |
7/22 |
- |
1 |
11-22248904-A-T |
c.420A>T |
p.L140F |
Missense |
7/22 |
- |
1 |
11-22248905-G-A |
c.421G>A |
p.V141I |
Missense |
7/22 |
- |
1 |
11-22248912-A-G |
c.428A>G |
p.Y143C |
Missense |
7/22 |
- |
3 |
11-22248914-G-T |
c.430G>T |
p.A144S |
Missense |
7/22 |
- |
5 |
11-22248919-A-G |
c.435A>G |
p.E145= |
Synonymous |
7/22 |
- |
1 |
11-22248920-G-A |
c.436G>A |
p.V146I |
Missense |
7/22 |
- |
1 |
11-22248924-T-G |
c.440T>G |
p.L147W |
Missense |
7/22 |
- |
4 |
11-22248931-C-A |
c.447C>A |
p.I149= |
Synonymous |
7/22 |
- |
2 |
11-22248931-C-G |
c.447C>G |
p.I149M |
Missense |
7/22 |
- |
2 |
11-22248931-C-T |
c.447C>T |
p.I149= |
Synonymous |
7/22 |
- |
1 |
11-22248934-A-G |
c.450A>G |
p.K150= |
Synonymous |
7/22 |
- |
1 |
11-22248936-T-C |
c.452T>C |
p.M151T |
Missense |
7/22 |
- |
4 |
11-22248941-A-G |
c.457A>G |
p.I153V |
Missense |
7/22 |
- |
1 |
11-22248943-T-G |
c.459T>G |
p.I153M |
Missense |
7/22 |
- |
1 |
11-22248947-G-A |
c.463G>A |
p.E155K |
Missense |
7/22 |
- |
1 |
11-22248951-G-A |
c.467G>A |
p.S156N |
Missense |
7/22 |
- |
1 |
11-22248957-T-C |
c.473T>C |
p.I158T |
Missense |
7/22 |
- |
2 |
11-22248958-T-G |
c.474T>G |
p.I158M |
Missense |
7/22 |
- |
1 |
11-22248959-C-T |
c.475C>T |
p.P159S |
Missense |
7/22 |
- |
5 |
11-22248960-C-T |
c.476C>T |
p.P159L |
Missense |
7/22 |
- |
4 |
11-22248962-C-T |
c.478C>T |
p.R160C |
Missense |
7/22 |
- |
5 |
11-22248963-G-A |
c.479G>A |
p.R160H |
Missense |
7/22 |
- |
7 |
11-22248963-G-T |
c.479G>T |
p.R160L |
Missense |
7/22 |
- |
1 |
11-22248970-G-C |
c.486G>C |
p.K162N |
Missense |
7/22 |
- |
1 |
11-22248972-A-T |
c.488A>T |
p.H163L |
Missense |
7/22 |
- |
2 |
11-22248975-C-T |
c.491C>T |
p.T164I |
Missense |
7/22 |
- |
1 |
11-22248977-C-T |
c.493C>T |
p.P165S |
Missense |
7/22 |
- |
2 |
11-22248978-C-T |
c.494C>T |
p.P165L |
Missense |
7/22 |
- |
1 |
11-22248980-A-G |
c.496A>G |
p.I166V |
Missense |
7/22 |
- |
1 |
11-22248981-T-G |
c.497T>G |
p.I166R |
Missense |
7/22 |
- |
1 |
11-22248984-G-T |
c.500G>T |
p.S167I |
Missense |
7/22 |
- |
1 |
11-22248985-C-T |
c.501C>T |
p.S167= |
Synonymous |
7/22 |
- |
1 |
11-22248988-T-A |
c.504T>A |
p.Y168* |
Nonsense |
7/22 |
- |
1 |
11-22248988-T-C |
c.504T>C |
p.Y168= |
Synonymous |
7/22 |
- |
1 |
11-22248989-G-A |
c.505G>A |
p.V169M |
Missense |
7/22 |
- |
2 |
11-22248989-G-C |
c.505G>C |
p.V169L |
Missense |
7/22 |
- |
1 |
11-22248989-G-T |
c.505G>T |
p.V169L |
Missense |
7/22 |
- |
1 |
11-22248992-C-G |
c.508C>G |
p.L170V |
Missense |
7/22 |
- |
1 |
11-22248993-T-C |
c.509T>C |
p.L170P |
Missense |
7/22 |
- |
1 |
11-22248996-G-A |
c.512G>A |
p.G171E |
Missense |
7/22 |
- |
1 |
11-22249001-G-A |
c.517G>A |
p.V173I |
Missense |
7/22 |
- |
1 |
11-22249003-A-T |
c.519A>T |
p.V173= |
Synonymous |
7/22 |
- |
1 |
11-22249011-C-G |
c.527C>G |
p.P176R |
Missense |
7/22 |
- |
1 |
11-22249016-AG-GC |
c.532_533delinsGC |
p.S178A |
Missense |
7/22 |
- |
1 |
11-22249017-G-A |
c.533G>A |
p.S178N |
Missense |
7/22 |
- |
3 |
11-22249017-G-C |
c.533G>C |
p.S178T |
Missense |
7/22 |
- |
1 |
11-22249017-G-T |
c.533G>T |
p.S178I |
Missense |
7/22 |
- |
3 |
11-22249019-G-T |
c.535G>T |
p.V179L |
Missense |
7/22 |
- |
1 |
11-22249028-C-T |
c.544C>T |
p.P182S |
Missense |
7/22 |
- |
1 |
11-22249029-C-T |
c.545C>T |
p.P182L |
Missense |
7/22 |
- |
1 |
11-22249033-T-A |
c.549T>A |
p.H183Q |
Missense |
7/22 |
- |
1 |
11-22249033-T-G |
c.549T>G |
p.H183Q |
Missense |
7/22 |
- |
1 |
11-22249037-G-A |
c.553G>A |
p.E185K |
Missense |
7/22 |
- |
1 |
11-22249037-G-C |
c.553G>C |
p.E185Q |
Missense |
7/22 |
- |
2 |
11-22249037-G-T |
c.553G>T |
p.E185* |
Nonsense |
7/22 |
- |
4 |
11-22249040-T-C |
c.556T>C |
p.Y186H |
Missense |
7/22 |
- |
1 |
11-22249045-T-A |
c.561T>A |
p.F187L |
Missense |
7/22 |
- |
1 |
11-22249044-T-A |
c.560T>A |
p.F187Y |
Missense |
7/22 |
- |
1 |
11-22249044-T-G |
c.560T>G |
p.F187C |
Missense |
7/22 |
- |
1 |
11-22249048-T-A |
c.564T>A |
p.T188= |
Synonymous |
7/22 |
- |
1 |
11-22249049-G-A |
c.565G>A |
p.A189T |
Missense |
7/22 |
- |
1 |
11-22249049-G-T |
c.565G>T |
p.A189S |
Missense |
7/22 |
- |
1 |
11-22249051-A-C |
c.567A>C |
p.A189= |
Synonymous |
7/22 |
- |
1 |
11-22249051-A-G |
c.567A>G |
p.A189= |
Synonymous |
7/22 |
- |
3 |
11-22249051-A-T |
c.567A>T |
p.A189= |
Synonymous |
7/22 |
- |
1 |
11-22249052-C-T |
c.568C>T |
p.Q190* |
Nonsense |
7/22 |
- |
1 |
11-22249055-T-C |
c.571T>C |
p.F191L |
Missense |
7/22 |
- |
2 |
11-22249057-C-A |
c.573C>A |
p.F191L |
Missense |
7/22 |
- |
2 |
11-22249057-C-G |
c.573C>G |
p.F191L |
Missense |
7/22 |
- |
2 |
11-22249058-A-G |
c.574A>G |
p.S192G |
Missense |
7/22 |
- |
1 |
11-22249061-AGA-TGG |
c.577_579delinsTGG |
p.R193W |
Missense |
7/22 |
- |
1 |
11-22249064-C-T |
c.580C>T |
p.H194Y |
Missense |
7/22 |
- |
1 |
11-22249065-A-G |
c.581A>G |
p.H194R |
Missense |
7/22 |
- |
1 |
11-22249067-C-A |
c.583C>A |
p.R195= |
Synonymous |
7/22 |
- |
1 |
11-22249067-C-T |
c.583C>T |
p.R195W |
Missense |
7/22 |
- |
5 |
11-22249068-G-A |
c.584G>A |
p.R195Q |
Missense |
7/22 |
- |
4 |
11-22249073-G-A |
c.589G>A |
p.E197K |
Missense |
7/22 |
- |
2 |
11-22249076-C-G |
c.592C>G |
p.L198V |
Missense |
7/22 |
- |
1 |
11-22249077-T-C |
c.593T>C |
p.L198P |
Missense |
7/22 |
- |
1 |
11-22249077-T-G |
c.593T>G |
p.L198R |
Missense |
7/22 |
- |
5 |
11-22249079-T-C |
c.595T>C |
p.F199L |
Missense |
7/22 |
- |
1 |
11-22249081-C-A |
c.597C>A |
p.F199L |
Missense |
7/22 |
- |
1 |
11-22249081-C-G |
c.597C>G |
p.F199L |
Missense |
7/22 |
- |
1 |
11-22249082-C-A |
c.598C>A |
p.L200I |
Missense |
7/22 |
- |
2 |
11-22249085-A-G |
c.601A>G |
p.I201V |
Missense |
7/22 |
- |
1 |
11-22249087-C-A |
c.603C>A |
p.I201= |
Synonymous |
7/22 |
- |
2 |
11-22249087-C-T |
c.603C>T |
p.I201= |
Synonymous |
7/22 |
- |
2 |
11-22249088-G-A |
c.604G>A |
p.E202K |
Missense |
7/22 |
- |
6 |
11-22249091-G-A |
c.607G>A |
p.D203N |
Missense |
7/22 |
- |
1 |
11-22249091-G-T |
c.607G>T |
p.D203Y |
Missense |
7/22 |
- |
1 |
11-22249094-C-T |
c.610C>T |
p.Q204* |
Nonsense |
7/22 |
- |
1 |
11-22249096-G-C |
c.612G>C |
p.Q204H |
Missense |
7/22 |
- |
1 |
11-22249096-G-T |
c.612G>T |
p.Q204H |
Missense |
7/22 |
- |
2 |
11-22249097-G-T |
c.613G>T |
p.A205S |
Missense |
7/22 |
- |
1 |
11-22249100-A-G |
c.616A>G |
p.T206A |
Missense |
7/22 |
- |
2 |
11-22249105-C-T |
c.621C>T |
p.F207= |
Synonymous |
7/22 |
- |
1 |
11-22249109-C-T |
c.625C>T |
p.P209S |
Missense |
7/22 |
- |
2 |
11-22249113-C-T |
c.629C>T |
p.S210F |
Missense |
7/22 |
- |
2 |
11-22249116-C-T |
c.632C>T |
p.S211L |
Missense |
7/22 |
- |
1 |
11-22249119-C-T |
c.635C>T |
p.S212L |
Missense |
7/22 |
- |
5 |
11-22249127-A-G |
c.643A>G |
p.R215G |
Missense |
7/22 |
- |
7 |
11-22249127-AGA-CAT |
c.643_645delinsCAT |
p.R215H |
Missense |
7/22 |
- |
1 |
11-22249127-AG-CA |
c.643_644delinsCA |
p.R215Q |
Missense |
7/22 |
- |
1 |
11-22249128-G-A |
c.644G>A |
p.R215K |
Missense |
7/22 |
- |
1 |
11-22249128-G-T |
c.644G>T |
p.R215I |
Missense |
7/22 |
- |
2 |
11-22249127-A-C |
c.643A>C |
p.R215= |
Synonymous |
7/22 |
- |
1 |
11-22249129-A-G |
c.645A>G |
p.R215= |
Synonymous |
7/22 |
- |
1 |
11-22249130-A-G |
c.646A>G |
p.I216V |
Missense |
7/22 |
- |
2 |
11-22249140-G-T |
c.648+8G>T |
- |
IntronicSNV |
- |
7/21 |
1 |
11-22249161-C-T |
c.648+29C>T |
- |
IntronicSNV |
- |
7/21 |
1 |
11-22249213-C-T |
c.648+81C>T |
- |
IntronicSNV |
- |
7/21 |
1 |
11-22251590-G-T |
c.648+2458G>T |
- |
IntronicSNV |
- |
7/21 |
1 |
11-22252378-C-T |
c.648+3246C>T |
- |
IntronicSNV |
- |
7/21 |
1 |
11-22255486-G-A |
c.649-2223G>A |
- |
IntronicSNV |
- |
7/21 |
1 |
11-22257460-C-G |
c.649-249C>G |
- |
IntronicSNV |
- |
7/21 |
1 |
11-22257543-A-G |
c.649-166A>G |
- |
IntronicSNV |
- |
7/21 |
1 |
11-22257595-T-A |
c.649-114T>A |
- |
IntronicSNV |
- |
7/21 |
2 |
11-22257595-T-G |
c.649-114T>G |
- |
IntronicSNV |
- |
7/21 |
2 |
11-22257709-GTG-ATC |
c.649_651delinsATC |
p.V217I |
Missense |
8/22 |
- |
1 |
11-22257713-A-G |
c.653A>G |
p.Y218C |
Missense |
8/22 |
- |
1 |
11-22257721-C-A |
c.661C>A |
p.L221I |
Missense |
8/22 |
- |
2 |
11-22257721-C-T |
c.661C>T |
p.L221F |
Missense |
8/22 |
- |
3 |
11-22257722-T-A |
c.662T>A |
p.L221H |
Missense |
8/22 |
- |
1 |
11-22257727-A-G |
c.667A>G |
p.R223G |
Missense |
8/22 |
- |
1 |
11-22257734-C-A |
c.674C>A |
p.P225H |
Missense |
8/22 |
- |
1 |
11-22257734-C-G |
c.674C>G |
p.P225R |
Missense |
8/22 |
- |
1 |
11-22257734-C-T |
c.674C>T |
p.P225L |
Missense |
8/22 |
- |
1 |
11-22257740-G-A |
c.680G>A |
p.G227D |
Missense |
8/22 |
- |
1 |
11-22257740-G-C |
c.680G>C |
p.G227A |
Missense |
8/22 |
- |
3 |
11-22257741-C-A |
c.681C>A |
p.G227= |
Synonymous |
8/22 |
- |
1 |
11-22257741-C-G |
c.681C>G |
p.G227= |
Synonymous |
8/22 |
- |
1 |
11-22257741-C-T |
c.681C>T |
p.G227= |
Synonymous |
8/22 |
- |
1 |
11-22257743-T-C |
c.683T>C |
p.I228T |
Missense |
8/22 |
- |
1 |
11-22257745-G-A |
c.685G>A |
p.E229K |
Missense |
8/22 |
- |
1 |
11-22257748-G-T |
c.688G>T |
p.D230Y |
Missense |
8/22 |
- |
2 |
11-22257749-A-G |
c.689A>G |
p.D230G |
Missense |
8/22 |
- |
2 |
11-22257749-A-T |
c.689A>T |
p.D230V |
Missense |
8/22 |
- |
1 |
11-22257751-G-A |
c.691G>A |
p.G231R |
Missense |
8/22 |
- |
1 |
11-22257751-G-T |
c.691G>T |
p.G231W |
Missense |
8/22 |
- |
3 |
11-22257752-G-A |
c.692G>A |
p.G231E |
Missense |
8/22 |
- |
1 |
11-22257752-G-T |
c.692G>T |
p.G231V |
Missense |
8/22 |
- |
31 |
11-22257753-G-A |
c.693G>A |
p.G231= |
Synonymous |
8/22 |
- |
1 |
11-22257753-G-C |
c.693G>C |
p.G231= |
Synonymous |
8/22 |
- |
1 |
11-22257753-G-T |
c.693G>T |
p.G231= |
Synonymous |
8/22 |
- |
1 |
11-22257754-A-G |
c.694A>G |
p.K232E |
Missense |
8/22 |
- |
1 |
11-22257756-G-C |
c.696G>C |
p.K232N |
Missense |
8/22 |
- |
1 |
11-22257756-G-T |
c.696G>T |
p.K232N |
Missense |
8/22 |
- |
1 |
11-22257757-A-G |
c.697A>G |
p.K233E |
Missense |
8/22 |
- |
2 |
11-22257760-A-G |
c.700A>G |
p.R234G |
Missense |
8/22 |
- |
1 |
11-22257761-G-A |
c.701G>A |
p.R234K |
Missense |
8/22 |
- |
3 |
11-22257761-G-C |
c.701G>C |
p.R234T |
Missense |
8/22 |
- |
1 |
11-22257763-T-G |
c.703T>G |
p.F235V |
Missense |
8/22 |
- |
2 |
11-22257765-T-C |
c.705T>C |
p.F235= |
Synonymous |
8/22 |
- |
1 |
11-22257766-G-A |
c.706G>A |
p.G236R |
Missense |
8/22 |
- |
3 |
11-22257766-G-C |
c.706G>C |
p.G236R |
Missense |
8/22 |
- |
2 |
11-22257767-G-T |
c.707G>T |
p.G236V |
Missense |
8/22 |
- |
1 |
11-22257768-G-A |
c.708G>A |
p.G236= |
Synonymous |
8/22 |
- |
3 |
11-22257772-G-A |
c.712G>A |
p.E238K |
Missense |
8/22 |
- |
1 |
11-22257772-G-T |
c.712G>T |
p.E238* |
Nonsense |
8/22 |
- |
1 |
11-22257775-AG-CT |
c.715_716inv |
p.R239L |
Missense |
8/22 |
- |
1 |
11-22257778-C-T |
c.718C>T |
p.L240= |
Synonymous |
8/22 |
- |
2 |
11-22257780-G-A |
c.720G>A |
p.L240= |
Synonymous |
8/22 |
- |
2 |
11-22257780-G-C |
c.720G>C |
p.L240= |
Synonymous |
8/22 |
- |
2 |
11-22257780-G-T |
c.720G>T |
p.L240= |
Synonymous |
8/22 |
- |
2 |
11-22257781-C-A |
c.721C>A |
p.L241I |
Missense |
8/22 |
- |
4 |
11-22257781-C-T |
c.721C>T |
p.L241= |
Synonymous |
8/22 |
- |
1 |
11-22257783-A-C |
c.723A>C |
p.L241= |
Synonymous |
8/22 |
- |
1 |
11-22257783-A-G |
c.723A>G |
p.L241= |
Synonymous |
8/22 |
- |
1 |
11-22257783-A-T |
c.723A>T |
p.L241= |
Synonymous |
8/22 |
- |
1 |
11-22257786-C-CT |
c.727dup |
p.S243Ffs*2 |
Frameshift |
8/22 |
- |
1 |
11-22257787-T-G |
c.727T>G |
p.S243A |
Missense |
8/22 |
- |
1 |
11-22257788-C-A |
c.728C>A |
p.S243Y |
Missense |
8/22 |
- |
1 |
11-22257788-C-CT |
c.729dup |
p.N244* |
Nonsense |
8/22 |
- |
1 |
11-22257790-A-T |
c.730A>T |
p.N244Y |
Missense |
8/22 |
- |
1 |
11-22257792-C-T |
c.732C>T |
p.N244= |
Synonymous |
8/22 |
- |
1 |
11-22257793-A-T |
c.733A>T |
p.T245S |
Missense |
8/22 |
- |
1 |
11-22257794-C-G |
c.734C>G |
p.T245S |
Missense |
8/22 |
- |
2 |
11-22257796-T-C |
c.736T>C |
p.Y246H |
Missense |
8/22 |
- |
1 |
11-22257797-A-C |
c.737A>C |
p.Y246S |
Missense |
8/22 |
- |
1 |
11-22257799-T-C |
c.739T>C |
p.S247P |
Missense |
8/22 |
- |
1 |
11-22257800-C-T |
c.740C>T |
p.S247L |
Missense |
8/22 |
- |
2 |
11-22257809-A-G |
c.749A>G |
p.Y250C |
Missense |
8/22 |
- |
6 |
11-22257809-A-T |
c.749A>T |
p.Y250F |
Missense |
8/22 |
- |
2 |
11-22257812-C-T |
c.752C>T |
p.P251L |
Missense |
8/22 |
- |
1 |
11-22257816-C-A |
c.756C>A |
p.L252= |
Synonymous |
8/22 |
- |
1 |
11-22257816-C-G |
c.756C>G |
p.L252= |
Synonymous |
8/22 |
- |
1 |
11-22257816-C-T |
c.756C>T |
p.L252= |
Synonymous |
8/22 |
- |
4 |
11-22257817-C-T |
c.757C>T |
p.H253Y |
Missense |
8/22 |
- |
1 |
11-22257818-A-C |
c.758A>C |
p.H253P |
Missense |
8/22 |
- |
1 |
11-22257820-G-A |
c.760G>A |
p.D254N |
Missense |
8/22 |
- |
1 |
11-22257820-G-C |
c.760G>C |
p.D254H |
Missense |
8/22 |
- |
2 |
11-22257823-G-A |
c.762+1G>A |
- |
IntronicSNV |
- |
8/21 |
3 |
11-22257909-G-A |
c.762+87G>A |
- |
IntronicSNV |
- |
8/21 |
5 |
11-22261069-G-T |
c.763-46G>T |
- |
IntronicSNV |
- |
8/21 |
4 |
11-22261116-G-A |
c.764G>A |
p.G255D |
Missense |
9/22 |
- |
6 |
11-22261120-A-C |
c.768A>C |
p.Q256H |
Missense |
9/22 |
- |
1 |
11-22261124-T-A |
c.772T>A |
p.W258R |
Missense |
9/22 |
- |
1 |
11-22261125-G-C |
c.773G>C |
p.W258S |
Missense |
9/22 |
- |
1 |
11-22261126-G-A |
c.774G>A |
p.W258* |
Nonsense |
9/22 |
- |
2 |
11-22261127-A-T |
c.775A>T |
p.K259* |
Nonsense |
9/22 |
- |
1 |
11-22261129-G-C |
c.777G>C |
p.K259N |
Missense |
9/22 |
- |
2 |
11-22261129-G-T |
c.777G>T |
p.K259N |
Missense |
9/22 |
- |
3 |
11-22261130-C-T |
c.778C>T |
p.P260S |
Missense |
9/22 |
- |
1 |
11-22261132-A-C |
c.780A>C |
p.P260= |
Synonymous |
9/22 |
- |
1 |
11-22261132-A-G |
c.780A>G |
p.P260= |
Synonymous |
9/22 |
- |
1 |
11-22261132-A-T |
c.780A>T |
p.P260= |
Synonymous |
9/22 |
- |
1 |
11-22261133-T-C |
c.781T>C |
p.S261P |
Missense |
9/22 |
- |
1 |
11-22261135-A-G |
c.783A>G |
p.S261= |
Synonymous |
9/22 |
- |
1 |
11-22261136-G-A |
c.784G>A |
p.E262K |
Missense |
9/22 |
- |
2 |
11-22261143-C-A |
c.791C>A |
p.P264H |
Missense |
9/22 |
- |
1 |
11-22261145-A-G |
c.793A>G |
p.N265D |
Missense |
9/22 |
- |
2 |
11-22261145-A-T |
c.793A>T |
p.N265Y |
Missense |
9/22 |
- |
3 |
11-22261146-A-G |
c.794A>G |
p.N265S |
Missense |
9/22 |
- |
7 |
11-22261146-A-T |
c.794A>T |
p.N265I |
Missense |
9/22 |
- |
1 |
11-22261148-C-T |
c.796C>T |
p.P266S |
Missense |
9/22 |
- |
6 |
11-22261149-C-G |
c.797C>G |
p.P266R |
Missense |
9/22 |
- |
1 |
11-22261149-C-T |
c.797C>T |
p.P266L |
Missense |
9/22 |
- |
3 |
11-22261151-A-T |
c.799A>T |
p.T267S |
Missense |
9/22 |
- |
1 |
11-22261152-C-G |
c.800C>G |
p.T267S |
Missense |
9/22 |
- |
6 |
11-22261155-A-G |
c.803A>G |
p.N268S |
Missense |
9/22 |
- |
3 |
11-22261161-G-A |
c.809G>A |
p.R270K |
Missense |
9/22 |
- |
1 |
11-22261163-T-A |
c.811T>A |
p.Y271N |
Missense |
9/22 |
- |
1 |
11-22261165-C-G |
c.813C>G |
p.Y271* |
Nonsense |
9/22 |
- |
1 |
11-22261165-C-T |
c.813C>T |
p.Y271= |
Synonymous |
9/22 |
- |
1 |
11-22261167-C-G |
c.815C>G |
p.T272R |
Missense |
9/22 |
- |
1 |
11-22261168-A-G |
c.816A>G |
p.T272= |
Synonymous |
9/22 |
- |
1 |
11-22261169-C-T |
c.817C>T |
p.L273F |
Missense |
9/22 |
- |
4 |
11-22261171-T-A |
c.819T>A |
p.L273= |
Synonymous |
9/22 |
- |
1 |
11-22261171-T-C |
c.819T>C |
p.L273= |
Synonymous |
9/22 |
- |
1 |
11-22261171-T-G |
c.819T>G |
p.L273= |
Synonymous |
9/22 |
- |
1 |
11-22261172-C-T |
c.820C>T |
p.H274Y |
Missense |
9/22 |
- |
1 |
11-22261174-C-T |
c.822C>T |
p.H274= |
Synonymous |
9/22 |
- |
2 |
11-22261175-C-T |
c.823C>T |
p.Q275* |
Nonsense |
9/22 |
- |
1 |
11-22261177-G-A |
c.825G>A |
p.Q275= |
Synonymous |
9/22 |
- |
1 |
11-22261177-G-C |
c.825G>C |
p.Q275H |
Missense |
9/22 |
- |
1 |
11-22261180-T-G |
c.828T>G |
p.N276K |
Missense |
9/22 |
- |
1 |
11-22261182-G-T |
c.830G>T |
p.W277L |
Missense |
9/22 |
- |
1 |
11-22261187-C-A |
c.835C>A |
p.R279= |
Synonymous |
9/22 |
- |
1 |
11-22261187-C-T |
c.835C>T |
p.R279* |
Nonsense |
9/22 |
- |
1 |
11-22261188-G-A |
c.836G>A |
p.R279Q |
Missense |
9/22 |
- |
4 |
11-22261188-G-T |
c.836G>T |
p.R279L |
Missense |
9/22 |
- |
2 |
11-22261194-C-T |
c.842C>T |
p.S281F |
Missense |
9/22 |
- |
2 |
11-22261200-T-C |
c.848T>C |
p.F283S |
Missense |
9/22 |
- |
1 |
11-22261201-C-T |
c.849C>T |
p.F283= |
Synonymous |
9/22 |
- |
1 |
11-22261203-A-G |
c.851A>G |
p.Y284C |
Missense |
9/22 |
- |
1 |
11-22261204-C-G |
c.852C>G |
p.Y284* |
Nonsense |
9/22 |
- |
1 |
11-22261207-G-A |
c.855G>A |
p.K285= |
Synonymous |
9/22 |
- |
1 |
11-22261208-G-A |
c.856G>A |
p.E286K |
Missense |
9/22 |
- |
3 |
11-22261211-C-G |
c.859C>G |
p.Q287E |
Missense |
9/22 |
- |
1 |
11-22261212-A-G |
c.860A>G |
p.Q287R |
Missense |
9/22 |
- |
1 |
11-22261214-C-T |
c.862C>T |
p.P288S |
Missense |
9/22 |
- |
1 |
11-22261215-C-A |
c.863C>A |
p.P288H |
Missense |
9/22 |
- |
1 |
11-22261217-T-G |
c.865T>G |
p.L289V |
Missense |
9/22 |
- |
1 |
11-22261223-T-A |
c.871T>A |
p.L291M |
Missense |
9/22 |
- |
2 |
11-22261222-CTTGA-C |
c.873_876del |
p.I292Rfs*27 |
Frameshift |
9/22 |
- |
1 |
11-22261226-A-T |
c.874A>T |
p.I292F |
Missense |
9/22 |
- |
1 |
11-22270782-A-C |
c.879-1001A>C |
- |
IntronicSNV |
- |
9/21 |
1 |
11-22271520-G-A |
c.879-263G>A |
- |
IntronicSNV |
- |
9/21 |
1 |
11-22271707-T-A |
c.879-76T>A |
- |
IntronicSNV |
- |
9/21 |
2 |
11-22271742-A-G |
c.879-41A>G |
- |
IntronicSNV |
- |
9/21 |
2 |
11-22271742-A-T |
c.879-41A>T |
- |
IntronicSNV |
- |
9/21 |
2 |
11-22271783-G-A |
c.879G>A |
p.K293= |
Synonymous |
10/22 |
- |
4 |
11-22271788-A-G |
c.884A>G |
p.Y295C |
Missense |
10/22 |
- |
1 |
11-22271793-G-A |
c.889G>A |
p.G297R |
Missense |
10/22 |
- |
3 |
11-22271793-G-C |
c.889G>C |
p.G297R |
Missense |
10/22 |
- |
2 |
11-22271794-G-A |
c.890G>A |
p.G297E |
Missense |
10/22 |
- |
2 |
11-22271795-A-AT |
c.891_892insT |
p.E298* |
Nonsense |
10/22 |
- |
1 |
11-22271796-G-T |
c.892G>T |
p.E298* |
Nonsense |
10/22 |
- |
1 |
11-22271799-A-G |
c.895A>G |
p.K299E |
Missense |
10/22 |
- |
1 |
11-22271800-A-G |
c.896A>G |
p.K299R |
Missense |
10/22 |
- |
1 |
11-22271801-A-C |
c.897A>C |
p.K299N |
Missense |
10/22 |
- |
1 |
11-22271801-A-T |
c.897A>T |
p.K299N |
Missense |
10/22 |
- |
3 |
11-22271796-G-GA |
c.898dup |
p.I300Nfs*36 |
Frameshift |
10/22 |
- |
5 |
11-22271806-G-A |
c.902G>A |
p.G301D |
Missense |
10/22 |
- |
3 |
11-22271806-G-T |
c.902G>T |
p.G301V |
Missense |
10/22 |
- |
1 |
11-22271808-A-T |
c.904A>T |
p.I302F |
Missense |
10/22 |
- |
1 |
11-22271810-C-T |
c.906C>T |
p.I302= |
Synonymous |
10/22 |
- |
1 |
11-22271812-A-G |
c.908A>G |
p.Y303C |
Missense |
10/22 |
- |
1 |
11-22271813-T-C |
c.909T>C |
p.Y303= |
Synonymous |
10/22 |
- |
1 |
11-22271815-T-C |
c.911T>C |
p.F304S |
Missense |
10/22 |
- |
1 |
11-22271818-T-A |
c.914T>A |
p.V305D |
Missense |
10/22 |
- |
1 |
11-22271826-G-A |
c.922G>A |
p.G308R |
Missense |
10/22 |
- |
2 |
11-22271826-G-C |
c.922G>C |
p.G308R |
Missense |
10/22 |
- |
1 |
11-22271826-GG-AA |
c.922_923delinsAA |
p.G308K |
Missense |
10/22 |
- |
1 |
11-22271827-G-A |
c.923G>A |
p.G308E |
Missense |
10/22 |
- |
3 |
11-22271827-GA-AC |
c.923_924delinsAC |
p.G308D |
Missense |
10/22 |
- |
1 |
11-22271827-G-T |
c.923G>T |
p.G308V |
Missense |
10/22 |
- |
1 |
11-22271833-A-G |
c.929A>G |
p.Y310C |
Missense |
10/22 |
- |
1 |
11-22271833-A-T |
c.929A>T |
p.Y310F |
Missense |
10/22 |
- |
6 |
11-22271838-G-A |
c.934G>A |
p.E312K |
Missense |
10/22 |
- |
1 |
11-22271843-G-A |
c.939G>A |
p.M313I |
Missense |
10/22 |
- |
1 |
11-22271847-T-C |
c.943T>C |
p.F315L |
Missense |
10/22 |
- |
1 |
11-22271849-C-A |
c.945C>A |
p.F315L |
Missense |
10/22 |
- |
1 |
11-22271849-C-G |
c.945C>G |
p.F315L |
Missense |
10/22 |
- |
1 |
11-22271856-G-C |
c.952G>C |
p.A318P |
Missense |
10/22 |
- |
1 |
11-22271857-C-A |
c.953C>A |
p.A318D |
Missense |
10/22 |
- |
4 |
11-22271857-C-G |
c.953C>G |
p.A318G |
Missense |
10/22 |
- |
1 |
11-22271860-T-G |
c.956T>G |
p.V319G |
Missense |
10/22 |
- |
1 |
11-22271866-G-A |
c.962G>A |
p.G321D |
Missense |
10/22 |
- |
1 |
11-22271868-T-C |
c.964T>C |
p.L322= |
Synonymous |
10/22 |
- |
1 |
11-22271870-A-C |
c.966A>C |
p.L322F |
Missense |
10/22 |
- |
41 |
11-22271870-A-G |
c.966A>G |
p.L322= |
Synonymous |
10/22 |
- |
19 |
11-22271870-A-T |
c.966A>T |
p.L322F |
Missense |
10/22 |
- |
49 |
11-22271871-G-T |
c.967G>T |
p.A323S |
Missense |
10/22 |
- |
2 |
11-22271882-T-A |
c.978T>A |
p.I326= |
Synonymous |
10/22 |
- |
1 |
11-22271882-T-C |
c.978T>C |
p.I326= |
Synonymous |
10/22 |
- |
1 |
11-22271889-T-C |
c.985T>C |
p.L329= |
Synonymous |
10/22 |
- |
3 |
11-22271889-T-G |
c.985T>G |
p.L329V |
Missense |
10/22 |
- |
1 |
11-22271888-C-CT |
c.986dup |
p.L329Ffs*7 |
Frameshift |
10/22 |
- |
1 |
11-22271891-A-AT |
c.989dup |
p.L330Ffs*6 |
Frameshift |
10/22 |
- |
2 |
11-22271893-T-C |
c.989T>C |
p.L330S |
Missense |
10/22 |
- |
1 |
11-22271894-A-G |
c.990A>G |
p.L330= |
Synonymous |
10/22 |
- |
2 |
11-22271895-T-A |
c.991T>A |
p.S331T |
Missense |
10/22 |
- |
1 |
11-22271895-T-G |
c.991T>G |
p.S331A |
Missense |
10/22 |
- |
1 |
11-22271896-C-A |
c.992C>A |
p.S331* |
Nonsense |
10/22 |
- |
1 |
11-22271896-C-G |
c.992C>G |
p.S331* |
Nonsense |
10/22 |
- |
1 |
11-22271896-C-T |
c.992C>T |
p.S331L |
Missense |
10/22 |
- |
1 |
11-22271898-A-G |
c.994A>G |
p.M332V |
Missense |
10/22 |
- |
2 |
11-22271900-G-A |
c.996G>A |
p.M332I |
Missense |
10/22 |
- |
1 |
11-22271901-G-A |
c.997G>A |
p.E333K |
Missense |
10/22 |
- |
2 |
11-22271914-G-A |
c.1010G>A |
p.S337N |
Missense |
10/22 |
- |
1 |
11-22271916-A-T |
c.1012A>T |
p.S338C |
Missense |
10/22 |
- |
3 |
11-22271918-G-A |
c.1013+1G>A |
- |
IntronicSNV |
- |
10/21 |
1 |
11-22271968-A-G |
c.1013+51A>G |
- |
IntronicSNV |
- |
10/21 |
1 |
11-22272061-A-G |
c.1013+144A>G |
- |
IntronicSNV |
- |
10/21 |
1 |
11-22272086-T-G |
c.1013+169T>G |
- |
IntronicSNV |
- |
10/21 |
1 |
11-22272289-C-A |
c.1016C>A |
p.T339N |
Missense |
11/22 |
- |
1 |
11-22272291-G-A |
c.1018G>A |
p.E340K |
Missense |
11/22 |
- |
1 |
11-22272291-G-T |
c.1018G>T |
p.E340* |
Nonsense |
11/22 |
- |
1 |
11-22272294-A-T |
c.1021A>T |
p.I341F |
Missense |
11/22 |
- |
1 |
11-22272296-C-A |
c.1023C>A |
p.I341= |
Synonymous |
11/22 |
- |
2 |
11-22272296-C-T |
c.1023C>T |
p.I341= |
Synonymous |
11/22 |
- |
1 |
11-22272297-T-G |
c.1024T>G |
p.C342G |
Missense |
11/22 |
- |
1 |
11-22272298-G-A |
c.1025G>A |
p.C342Y |
Missense |
11/22 |
- |
1 |
11-22272300-G-A |
c.1027G>A |
p.D343N |
Missense |
11/22 |
- |
1 |
11-22272302-C-T |
c.1029C>T |
p.D343= |
Synonymous |
11/22 |
- |
1 |
11-22272304-C-A |
c.1031C>A |
p.P344H |
Missense |
11/22 |
- |
2 |
11-22272304-C-G |
c.1031C>G |
p.P344R |
Missense |
11/22 |
- |
2 |
11-22272304-C-T |
c.1031C>T |
p.P344L |
Missense |
11/22 |
- |
1 |
11-22272305-T-A |
c.1032T>A |
p.P344= |
Synonymous |
11/22 |
- |
2 |
11-22272305-T-C |
c.1032T>C |
p.P344= |
Synonymous |
11/22 |
- |
1 |
11-22272305-T-G |
c.1032T>G |
p.P344= |
Synonymous |
11/22 |
- |
1 |
11-22272307-A-G |
c.1034A>G |
p.E345G |
Missense |
11/22 |
- |
1 |
11-22272309-A-C |
c.1036A>C |
p.I346L |
Missense |
11/22 |
- |
1 |
11-22272311-T-G |
c.1038T>G |
p.I346M |
Missense |
11/22 |
- |
2 |
11-22272312-G-A |
c.1039G>A |
p.G347S |
Missense |
11/22 |
- |
1 |
11-22272313-GT-AG |
c.1040_1041delinsAG |
p.G347E |
Missense |
11/22 |
- |
1 |
11-22272321-GA-G |
c.1048del |
p.M350* |
Frameshift |
11/22 |
- |
1 |
11-22272323-G-A |
c.1050G>A |
p.M350I |
Missense |
11/22 |
- |
2 |
11-22272323-G-C |
c.1050G>C |
p.M350I |
Missense |
11/22 |
- |
3 |
11-22272323-G-T |
c.1050G>T |
p.M350I |
Missense |
11/22 |
- |
3 |
11-22272326-C-A |
c.1053C>A |
p.I351= |
Synonymous |
11/22 |
- |
1 |
11-22272326-C-T |
c.1053C>T |
p.I351= |
Synonymous |
11/22 |
- |
1 |
11-22272327-A-G |
c.1054A>G |
p.M352V |
Missense |
11/22 |
- |
2 |
11-22272328-T-C |
c.1055T>C |
p.M352T |
Missense |
11/22 |
- |
1 |
11-22272329-G-A |
c.1056G>A |
p.M352I |
Missense |
11/22 |
- |
2 |
11-22272329-G-C |
c.1056G>C |
p.M352I |
Missense |
11/22 |
- |
2 |
11-22272329-G-T |
c.1056G>T |
p.M352I |
Missense |
11/22 |
- |
3 |
11-22272332-C-A |
c.1059C>A |
p.C353* |
Nonsense |
11/22 |
- |
1 |
11-22272334-C-T |
c.1061C>T |
p.P354L |
Missense |
11/22 |
- |
1 |
11-22272336-C-A |
c.1063C>A |
p.L355I |
Missense |
11/22 |
- |
1 |
11-22272337-T-C |
c.1064T>C |
p.L355P |
Missense |
11/22 |
- |
1 |
11-22272338-C-A |
c.1065C>A |
p.L355= |
Synonymous |
11/22 |
- |
2 |
11-22272338-C-G |
c.1065C>G |
p.L355= |
Synonymous |
11/22 |
- |
2 |
11-22272338-C-T |
c.1065C>T |
p.L355= |
Synonymous |
11/22 |
- |
7 |
11-22272339-T-A |
c.1066T>A |
p.C356S |
Missense |
11/22 |
- |
1 |
11-22272339-T-C |
c.1066T>C |
p.C356R |
Missense |
11/22 |
- |
16 |
11-22272339-T-G |
c.1066T>G |
p.C356G |
Missense |
11/22 |
- |
14 |
11-22272340-G-A |
c.1067G>A |
p.C356Y |
Missense |
11/22 |
- |
11 |
11-22272340-G-T |
c.1067G>T |
p.C356F |
Missense |
11/22 |
- |
4 |
11-22272342-G-A |
c.1069G>A |
p.D357N |
Missense |
11/22 |
- |
1 |
11-22272342-G-T |
c.1069G>T |
p.D357Y |
Missense |
11/22 |
- |
1 |
11-22272348-G-C |
c.1075G>C |
p.V359L |
Missense |
11/22 |
- |
1 |
11-22272348-G-T |
c.1075G>T |
p.V359L |
Missense |
11/22 |
- |
2 |
11-22272350-G-GGATTA |
c.1077_1078insGATTA |
p.C360Dfs*8 |
Frameshift |
11/22 |
- |
1 |
11-22272350-G-GGATTATTGGAGA |
c.1077_1078insGATTATTGGAGA |
p.V359_C360insDYWR |
InFrameInsertion |
11/22 |
- |
1 |
11-22272351-T-C |
c.1078T>C |
p.C360R |
Missense |
11/22 |
- |
4 |
11-22272352-G-A |
c.1079G>A |
p.C360Y |
Missense |
11/22 |
- |
8 |
11-22272354-G-C |
c.1081G>C |
p.D361H |
Missense |
11/22 |
- |
1 |
11-22272355-A-T |
c.1082A>T |
p.D361V |
Missense |
11/22 |
- |
2 |
11-22272357-T-G |
c.1084T>G |
p.Y362D |
Missense |
11/22 |
- |
1 |
11-22272361-G-A |
c.1088G>A |
p.W363* |
Nonsense |
11/22 |
- |
1 |
11-22272361-G-T |
c.1088G>T |
p.W363L |
Missense |
11/22 |
- |
4 |
11-22272363-A-G |
c.1090A>G |
p.R364G |
Missense |
11/22 |
- |
1 |
11-22272364-G-A |
c.1091G>A |
p.R364K |
Missense |
11/22 |
- |
1 |
11-22272364-G-GA |
c.1092dup |
p.L365Tfs*3 |
Frameshift |
11/22 |
- |
1 |
11-22272366-C-T |
c.1093C>T |
p.L365= |
Synonymous |
11/22 |
- |
1 |
11-22272370-A-G |
c.1097A>G |
p.N366S |
Missense |
11/22 |
- |
1 |
11-22272376-C-A |
c.1103C>A |
p.T368K |
Missense |
11/22 |
- |
1 |
11-22272376-C-T |
c.1103C>T |
p.T368M |
Missense |
11/22 |
- |
5 |
11-22272377-G-A |
c.1104G>A |
p.T368= |
Synonymous |
11/22 |
- |
1 |
11-22272377-G-C |
c.1104G>C |
p.T368= |
Synonymous |
11/22 |
- |
1 |
11-22272377-G-T |
c.1104G>T |
p.T368= |
Synonymous |
11/22 |
- |
1 |
11-22272381-T-C |
c.1108T>C |
p.L370= |
Synonymous |
11/22 |
- |
1 |
11-22272383-G-A |
c.1110G>A |
p.L370= |
Synonymous |
11/22 |
- |
1 |
11-22272383-G-GGACTATTGGAGGCTTAACAGCACATGTCTT |
c.1111_1112insACTATTGGAGGCTTAACAGCACATGTCTTG |
p.D361_L370dup |
InFrameInsertion |
11/22 |
- |
1 |
11-22272387-T-A |
c.1114T>A |
p.S372T |
Missense |
11/22 |
- |
2 |
11-22272388-C-T |
c.1115C>T |
p.S372L |
Missense |
11/22 |
- |
7 |
11-22272393-G-T |
c.1119+1G>T |
- |
IntronicSNV |
- |
11/21 |
2 |
11-22272399-A-T |
c.1119+7A>T |
- |
IntronicSNV |
- |
11/21 |
1 |
11-22272473-A-T |
c.1120-24A>T |
- |
IntronicSNV |
- |
11/21 |
2 |
11-22272497-T-C |
c.1120T>C |
p.F374L |
Missense |
12/22 |
- |
2 |
11-22272499-C-A |
c.1122C>A |
p.F374L |
Missense |
12/22 |
- |
1 |
11-22272499-C-G |
c.1122C>G |
p.F374L |
Missense |
12/22 |
- |
1 |
11-22272496-GT-G |
c.1121del |
p.F374Sfs*53 |
Frameshift |
12/22 |
- |
1 |
11-22272500-T-C |
c.1123T>C |
p.S375P |
Missense |
12/22 |
- |
1 |
11-22272503-C-T |
c.1126C>T |
p.H376Y |
Missense |
12/22 |
- |
1 |
11-22272506-TT-AG |
c.1129_1130delinsAG |
p.L377R |
Missense |
12/22 |
- |
1 |
11-22272509-T-A |
c.1132T>A |
p.F378I |
Missense |
12/22 |
- |
1 |
11-22272512-G-A |
c.1135G>A |
p.D379N |
Missense |
12/22 |
- |
7 |
11-22272518-G-GA |
c.1142dup |
p.S382Vfs*30 |
Frameshift |
12/22 |
- |
1 |
11-22272520-G-A |
c.1143G>A |
p.E381= |
Synonymous |
12/22 |
- |
1 |
11-22272526-A-T |
c.1149A>T |
p.T383= |
Synonymous |
12/22 |
- |
1 |
11-22272526-CA-C |
c.1149del |
p.V384Cfs*43 |
Frameshift |
12/22 |
- |
1 |
11-22272530-T-C |
c.1153T>C |
p.F385L |
Missense |
12/22 |
- |
1 |
11-22272532-C-A |
c.1155C>A |
p.F385L |
Missense |
12/22 |
- |
2 |
11-22272532-C-G |
c.1155C>G |
p.F385L |
Missense |
12/22 |
- |
1 |
11-22272532-CT-C |
c.1158del |
p.F386Lfs*41 |
Frameshift |
12/22 |
- |
2 |
11-22272535-T-C |
c.1158T>C |
p.F386= |
Synonymous |
12/22 |
- |
2 |
11-22272537-C-CA |
c.1162dup |
p.I388Nfs*24 |
Frameshift |
12/22 |
- |
1 |
11-22272543-T-A |
c.1166T>A |
p.F389Y |
Missense |
12/22 |
- |
1 |
11-22272545-A-T |
c.1168A>T |
p.M390L |
Missense |
12/22 |
- |
1 |
11-22272545-CATGGGAATTTGGGGTGAGTAAATAGTCCCATAAAGAAACAGCTTTCTTCCTATTAATGT-C |
c.1168_1180+46del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
12/22 |
12/21 |
1 |
11-22272546-T-G |
c.1169T>G |
p.M390R |
Missense |
12/22 |
- |
1 |
11-22272548-G-A |
c.1171G>A |
p.G391R |
Missense |
12/22 |
- |
3 |
11-22272548-G-C |
c.1171G>C |
p.G391R |
Missense |
12/22 |
- |
4 |
11-22272549-G-A |
c.1172G>A |
p.G391E |
Missense |
12/22 |
- |
3 |
11-22272555-G-A |
c.1178G>A |
p.W393* |
Nonsense |
12/22 |
- |
1 |
11-22272556-G-A |
c.1179G>A |
p.W393* |
Nonsense |
12/22 |
- |
1 |
11-22272556-G-T |
c.1179G>T |
p.W393C |
Missense |
12/22 |
- |
1 |
11-22272558-G-A |
c.1180+1G>A |
- |
IntronicSNV |
- |
12/21 |
1 |
11-22272563-T-C |
c.1180+6T>C |
- |
IntronicSNV |
- |
12/21 |
1 |
11-22274074-G-A |
c.1180+1517G>A |
- |
IntronicSNV |
- |
12/21 |
1 |
11-22276584-A-C |
c.1181-333A>C |
- |
IntronicSNV |
- |
12/21 |
1 |
11-22276869-T-A |
c.1181-48T>A |
- |
IntronicSNV |
- |
12/21 |
1 |
11-22276920-CC-TG |
c.1184_1185delinsTG |
p.T395M |
Missense |
13/22 |
- |
1 |
11-22276922-T-A |
c.1186T>A |
p.L396I |
Missense |
13/22 |
- |
1 |
11-22276924-A-C |
c.1188A>C |
p.L396F |
Missense |
13/22 |
- |
1 |
11-22276924-A-T |
c.1188A>T |
p.L396F |
Missense |
13/22 |
- |
2 |
11-22276927-T-C |
c.1191T>C |
p.F397= |
Synonymous |
13/22 |
- |
1 |
11-22276929-T-C |
c.1193T>C |
p.L398S |
Missense |
13/22 |
- |
1 |
11-22276931-G-A |
c.1195G>A |
p.E399K |
Missense |
13/22 |
- |
1 |
11-22276931-G-T |
c.1195G>T |
p.E399* |
Nonsense |
13/22 |
- |
1 |
11-22276934-T-G |
c.1198T>G |
p.F400V |
Missense |
13/22 |
- |
1 |
11-22276935-T-A |
c.1199T>A |
p.F400Y |
Missense |
13/22 |
- |
1 |
11-22276937-T-C |
c.1201T>C |
p.W401R |
Missense |
13/22 |
- |
1 |
11-22276938-G-A |
c.1202G>A |
p.W401* |
Nonsense |
13/22 |
- |
6 |
11-22276939-G-A |
c.1203G>A |
p.W401* |
Nonsense |
13/22 |
- |
2 |
11-22276943-C-T |
c.1207C>T |
p.Q403* |
Nonsense |
13/22 |
- |
1 |
11-22276946-C-T |
c.1210C>T |
p.R404* |
Nonsense |
13/22 |
- |
7 |
11-22276947-G-A |
c.1211G>A |
p.R404Q |
Missense |
13/22 |
- |
4 |
11-22276947-G-T |
c.1211G>T |
p.R404L |
Missense |
13/22 |
- |
3 |
11-22276949-C-T |
c.1213C>T |
p.Q405* |
Nonsense |
13/22 |
- |
3 |
11-22276960-G-GT |
c.1224_1225insT |
p.E409* |
Nonsense |
13/22 |
- |
1 |
11-22276962-A-G |
c.1226A>G |
p.E409G |
Missense |
13/22 |
- |
2 |
11-22276965-A-G |
c.1229A>G |
p.Y410C |
Missense |
13/22 |
- |
1 |
11-22276967-G-A |
c.1231G>A |
p.E411K |
Missense |
13/22 |
- |
1 |
11-22276971-G-T |
c.1235G>T |
p.W412L |
Missense |
13/22 |
- |
1 |
11-22276972-G-A |
c.1236G>A |
p.W412* |
Nonsense |
13/22 |
- |
1 |
11-22276974-A-C |
c.1238A>C |
p.D413A |
Missense |
13/22 |
- |
1 |
11-22276976-C-A |
c.1240C>A |
p.L414M |
Missense |
13/22 |
- |
1 |
11-22276976-C-T |
c.1240C>T |
p.L414= |
Synonymous |
13/22 |
- |
2 |
11-22276978-G-A |
c.1242G>A |
p.L414= |
Synonymous |
13/22 |
- |
2 |
11-22276978-G-C |
c.1242G>C |
p.L414= |
Synonymous |
13/22 |
- |
2 |
11-22276978-G-T |
c.1242G>T |
p.L414= |
Synonymous |
13/22 |
- |
2 |
11-22276979-G-A |
c.1243G>A |
p.V415M |
Missense |
13/22 |
- |
1 |
11-22276979-G-C |
c.1243G>C |
p.V415L |
Missense |
13/22 |
- |
3 |
11-22276979-G-T |
c.1243G>T |
p.V415L |
Missense |
13/22 |
- |
2 |
11-22276981-G-A |
c.1245G>A |
p.V415= |
Synonymous |
13/22 |
- |
1 |
11-22276984-C-A |
c.1248C>A |
p.D416E |
Missense |
13/22 |
- |
1 |
11-22276984-C-G |
c.1248C>G |
p.D416E |
Missense |
13/22 |
- |
1 |
11-22276988-G-A |
c.1252G>A |
p.E418K |
Missense |
13/22 |
- |
1 |
11-22276990-A-C |
c.1254A>C |
p.E418D |
Missense |
13/22 |
- |
1 |
11-22276990-A-T |
c.1254A>T |
p.E418D |
Missense |
13/22 |
- |
1 |
11-22276991-G-A |
c.1255G>A |
p.E419K |
Missense |
13/22 |
- |
1 |
11-22276994-G-A |
c.1258G>A |
p.E420K |
Missense |
13/22 |
- |
3 |
11-22276997-C-T |
c.1261C>T |
p.Q421* |
Nonsense |
13/22 |
- |
8 |
11-22277000-C-A |
c.1264C>A |
p.Q422K |
Missense |
13/22 |
- |
2 |
11-22277003-C-A |
c.1267C>A |
p.Q423K |
Missense |
13/22 |
- |
1 |
11-22277005-G-A |
c.1269G>A |
p.Q423= |
Synonymous |
13/22 |
- |
1 |
11-22277011-G-T |
c.1275G>T |
p.Q425H |
Missense |
13/22 |
- |
1 |
11-22277015-AGA-TGT |
c.1279_1281delinsTGT |
p.R427C |
Missense |
13/22 |
- |
1 |
11-22277015-AG-GC |
c.1279_1280delinsGC |
p.R427A |
Missense |
13/22 |
- |
1 |
11-22277016-G-A |
c.1280G>A |
p.R427K |
Missense |
13/22 |
- |
1 |
11-22277018-C-G |
c.1282C>G |
p.P428A |
Missense |
13/22 |
- |
1 |
11-22277018-C-T |
c.1282C>T |
p.P428S |
Missense |
13/22 |
- |
1 |
11-22277019-C-A |
c.1283C>A |
p.P428Q |
Missense |
13/22 |
- |
1 |
11-22277021-G-T |
c.1285G>T |
p.E429* |
Nonsense |
13/22 |
- |
2 |
11-22277022-A-G |
c.1286A>G |
p.E429G |
Missense |
13/22 |
- |
1 |
11-22277025-T-A |
c.1289T>A |
p.F430Y |
Missense |
13/22 |
- |
2 |
11-22277027-G-A |
c.1291G>A |
p.E431K |
Missense |
13/22 |
- |
1 |
11-22277030-G-A |
c.1294G>A |
p.A432T |
Missense |
13/22 |
- |
1 |
11-22277031-C-G |
c.1295C>G |
p.A432G |
Missense |
13/22 |
- |
6 |
11-22277035-G-A |
c.1299G>A |
p.M433I |
Missense |
13/22 |
- |
1 |
11-22277035-G-C |
c.1299G>C |
p.M433I |
Missense |
13/22 |
- |
1 |
11-22277035-G-T |
c.1299G>T |
p.M433I |
Missense |
13/22 |
- |
2 |
11-22277042-C-A |
c.1306C>A |
p.H436N |
Missense |
13/22 |
- |
2 |
11-22277047-G-C |
c.1311G>C |
p.R437S |
Missense |
13/22 |
- |
1 |
11-22277047-G-T |
c.1311G>T |
p.R437S |
Missense |
13/22 |
- |
1 |
11-22277049-A-G |
c.1313A>G |
p.K438R |
Missense |
13/22 |
- |
2 |
11-22277058-C-T |
c.1322C>T |
p.A441V |
Missense |
13/22 |
- |
1 |
11-22277064-C-G |
c.1328C>G |
p.T443S |
Missense |
13/22 |
- |
1 |
11-22277066-A-G |
c.1330A>G |
p.K444E |
Missense |
13/22 |
- |
1 |
11-22277068-G-A |
c.1332G>A |
p.K444= |
Synonymous |
13/22 |
- |
1 |
11-22277073-A-G |
c.1332+5A>G |
- |
IntronicSNV |
- |
13/21 |
1 |
11-22278647-G-GT |
c.1333-572dup |
- |
IntronicInsertion |
- |
13/21 |
1 |
11-22279227-A-G |
c.1334A>G |
p.E445G |
Missense |
14/22 |
- |
1 |
11-22279228-G-C |
c.1335G>C |
p.E445D |
Missense |
14/22 |
- |
2 |
11-22279228-G-T |
c.1335G>T |
p.E445D |
Missense |
14/22 |
- |
3 |
11-22279230-T-A |
c.1337T>A |
p.M446K |
Missense |
14/22 |
- |
1 |
11-22279232-G-A |
c.1339G>A |
p.E447K |
Missense |
14/22 |
- |
4 |
11-22279235-C-A |
c.1342C>A |
p.P448T |
Missense |
14/22 |
- |
1 |
11-22279237-T-A |
c.1344T>A |
p.P448= |
Synonymous |
14/22 |
- |
1 |
11-22279237-T-C |
c.1344T>C |
p.P448= |
Synonymous |
14/22 |
- |
1 |
11-22279237-T-G |
c.1344T>G |
p.P448= |
Synonymous |
14/22 |
- |
1 |
11-22279239-A-G |
c.1346A>G |
p.Y449C |
Missense |
14/22 |
- |
1 |
11-22279241-A-G |
c.1348A>G |
p.M450V |
Missense |
14/22 |
- |
1 |
11-22279243-G-C |
c.1350G>C |
p.M450I |
Missense |
14/22 |
- |
1 |
11-22279252-C-G |
c.1359C>G |
p.Y453* |
Nonsense |
14/22 |
- |
3 |
11-22279254-C-A |
c.1361C>A |
p.T454K |
Missense |
14/22 |
- |
1 |
11-22279254-C-T |
c.1361C>T |
p.T454M |
Missense |
14/22 |
- |
5 |
11-22279255-CG-C |
c.1362del |
p.R455Vfs*12 |
Frameshift |
14/22 |
- |
1 |
11-22279255-G-A |
c.1362G>A |
p.T454= |
Synonymous |
14/22 |
- |
2 |
11-22279255-G-C |
c.1362G>C |
p.T454= |
Synonymous |
14/22 |
- |
1 |
11-22279255-G-T |
c.1362G>T |
p.T454= |
Synonymous |
14/22 |
- |
1 |
11-22279256-C-T |
c.1363C>T |
p.R455C |
Missense |
14/22 |
- |
1 |
11-22279257-G-A |
c.1364G>A |
p.R455H |
Missense |
14/22 |
- |
4 |
11-22279262-C-A |
c.1369C>A |
p.P457T |
Missense |
14/22 |
- |
1 |
11-22279263-C-A |
c.1370C>A |
p.P457Q |
Missense |
14/22 |
- |
1 |
11-22279263-C-T |
c.1370C>T |
p.P457L |
Missense |
14/22 |
- |
1 |
11-22279270-C-A |
c.1377C>A |
p.Y459* |
Nonsense |
14/22 |
- |
2 |
11-22279270-C-G |
c.1377C>G |
p.Y459* |
Nonsense |
14/22 |
- |
1 |
11-22279271-T-C |
c.1378T>C |
p.F460L |
Missense |
14/22 |
- |
1 |
11-22279271-T-G |
c.1378T>G |
p.F460V |
Missense |
14/22 |
- |
1 |
11-22279273-T-A |
c.1380T>A |
p.F460L |
Missense |
14/22 |
- |
1 |
11-22279274-C-T |
c.1381C>T |
p.L461F |
Missense |
14/22 |
- |
2 |
11-22279277-T-C |
c.1384T>C |
p.S462P |
Missense |
14/22 |
- |
1 |
11-22279279-A-C |
c.1386A>C |
p.S462= |
Synonymous |
14/22 |
- |
1 |
11-22279279-A-G |
c.1386A>G |
p.S462= |
Synonymous |
14/22 |
- |
1 |
11-22279279-A-T |
c.1386A>T |
p.S462= |
Synonymous |
14/22 |
- |
1 |
11-22279281-G-A |
c.1388G>A |
p.G463E |
Missense |
14/22 |
- |
3 |
11-22279283-G-A |
c.1390G>A |
p.A464T |
Missense |
14/22 |
- |
1 |
11-22279283-G-GA |
c.1390_1391insA |
p.A464Dfs*30 |
Frameshift |
14/22 |
- |
1 |
11-22279283-G-T |
c.1390G>T |
p.A464S |
Missense |
14/22 |
- |
1 |
11-22279284-C-A |
c.1391C>A |
p.A464D |
Missense |
14/22 |
- |
1 |
11-22279283-GC-G |
c.1392del |
p.T465Qfs*2 |
Frameshift |
14/22 |
- |
2 |
11-22279285-C-A |
c.1392C>A |
p.A464= |
Synonymous |
14/22 |
- |
1 |
11-22279285-C-G |
c.1392C>G |
p.A464= |
Synonymous |
14/22 |
- |
1 |
11-22279285-C-T |
c.1392C>T |
p.A464= |
Synonymous |
14/22 |
- |
1 |
11-22279287-C-T |
c.1394C>T |
p.T465I |
Missense |
14/22 |
- |
1 |
11-22279291-G-T |
c.1398G>T |
p.V466= |
Synonymous |
14/22 |
- |
1 |
11-22279298-ATGG-A |
c.1405_1407del |
p.W469del |
InFrameDeletion |
14/22 |
- |
1 |
11-22279299-G-A |
c.1406G>A |
p.W469* |
Nonsense |
14/22 |
- |
2 |
11-22279299-G-C |
c.1406G>C |
p.W469S |
Missense |
14/22 |
- |
1 |
11-22279305-G-A |
c.1407+5G>A |
- |
IntronicSNV |
- |
14/21 |
6 |
11-22281066-T-A |
c.1409T>A |
p.M470K |
Missense |
15/22 |
- |
2 |
11-22281066-T-C |
c.1409T>C |
p.M470T |
Missense |
15/22 |
- |
1 |
11-22281066-T-G |
c.1409T>G |
p.M470R |
Missense |
15/22 |
- |
2 |
11-22281068-T-C |
c.1411T>C |
p.S471P |
Missense |
15/22 |
- |
1 |
11-22281074-G-A |
c.1417G>A |
p.V473I |
Missense |
15/22 |
- |
2 |
11-22281074-G-C |
c.1417G>C |
p.V473L |
Missense |
15/22 |
- |
1 |
11-22281076-C-A |
c.1419C>A |
p.V473= |
Synonymous |
15/22 |
- |
1 |
11-22281076-C-G |
c.1419C>G |
p.V473= |
Synonymous |
15/22 |
- |
1 |
11-22281076-C-T |
c.1419C>T |
p.V473= |
Synonymous |
15/22 |
- |
6 |
11-22281077-G-A |
c.1420G>A |
p.V474I |
Missense |
15/22 |
- |
5 |
11-22281084-G-A |
c.1427G>A |
p.S476N |
Missense |
15/22 |
- |
1 |
11-22281084-G-C |
c.1427G>C |
p.S476T |
Missense |
15/22 |
- |
1 |
11-22281093-C-A |
c.1436C>A |
p.A479D |
Missense |
15/22 |
- |
1 |
11-22281096-T-G |
c.1439T>G |
p.V480G |
Missense |
15/22 |
- |
1 |
11-22281099-T-C |
c.1442T>C |
p.I481T |
Missense |
15/22 |
- |
1 |
11-22281101-G-C |
c.1444G>C |
p.V482L |
Missense |
15/22 |
- |
3 |
11-22281101-G-T |
c.1444G>T |
p.V482L |
Missense |
15/22 |
- |
3 |
11-22281102-T-G |
c.1445T>G |
p.V482G |
Missense |
15/22 |
- |
1 |
11-22281105-A-G |
c.1448A>G |
p.Y483C |
Missense |
15/22 |
- |
2 |
11-22281106-C-T |
c.1449C>T |
p.Y483= |
Synonymous |
15/22 |
- |
1 |
11-22281107-C-T |
c.1450C>T |
p.R484C |
Missense |
15/22 |
- |
5 |
11-22281108-G-A |
c.1451G>A |
p.R484H |
Missense |
15/22 |
- |
6 |
11-22281108-G-C |
c.1451G>C |
p.R484P |
Missense |
15/22 |
- |
1 |
11-22281125-A-G |
c.1468A>G |
p.T490A |
Missense |
15/22 |
- |
2 |
11-22281134-A-G |
c.1477A>G |
p.S493G |
Missense |
15/22 |
- |
1 |
11-22281135-G-GA |
c.1478_1479insA |
p.S493Rfs*6 |
Frameshift |
15/22 |
- |
1 |
11-22281140-A-G |
c.1483A>G |
p.M495V |
Missense |
15/22 |
- |
2 |
11-22281141-T-C |
c.1484T>C |
p.M495T |
Missense |
15/22 |
- |
1 |
11-22281147-G-A |
c.1490G>A |
p.S497N |
Missense |
15/22 |
- |
1 |
11-22281149-G-T |
c.1492G>T |
p.D498Y |
Missense |
15/22 |
- |
1 |
11-22281156-C-T |
c.1499C>T |
p.S500F |
Missense |
15/22 |
- |
9 |
11-22281158-T-A |
c.1501T>A |
p.L501I |
Missense |
15/22 |
- |
1 |
11-22281157-CT-C |
c.1502del |
p.L501* |
Frameshift |
15/22 |
- |
1 |
11-22281166-G-A |
c.1509G>A |
p.Q503= |
Synonymous |
15/22 |
- |
1 |
11-22281167-G-T |
c.1510G>T |
p.V504F |
Missense |
15/22 |
- |
1 |
11-22281169-C-A |
c.1512C>A |
p.V504= |
Synonymous |
15/22 |
- |
1 |
11-22281169-C-G |
c.1512C>G |
p.V504= |
Synonymous |
15/22 |
- |
1 |
11-22281171-A-G |
c.1514A>G |
p.K505R |
Missense |
15/22 |
- |
1 |
11-22281173-A-G |
c.1516A>G |
p.S506G |
Missense |
15/22 |
- |
5 |
11-22281175-C-T |
c.1518C>T |
p.S506= |
Synonymous |
15/22 |
- |
1 |
11-22281175-CT-C |
c.1520del |
p.F507Sfs*6 |
Frameshift |
15/22 |
- |
5 |
11-22281178-C-A |
c.1521C>A |
p.F507L |
Missense |
15/22 |
- |
4 |
11-22281179-C-T |
c.1522C>T |
p.L508F |
Missense |
15/22 |
- |
2 |
11-22281181-T-A |
c.1524T>A |
p.L508= |
Synonymous |
15/22 |
- |
1 |
11-22281181-T-C |
c.1524T>C |
p.L508= |
Synonymous |
15/22 |
- |
1 |
11-22281181-T-G |
c.1524T>G |
p.L508= |
Synonymous |
15/22 |
- |
1 |
11-22281188-C-G |
c.1531C>G |
p.Q511E |
Missense |
15/22 |
- |
1 |
11-22281190-G-A |
c.1533G>A |
p.Q511= |
Synonymous |
15/22 |
- |
1 |
11-22281190-G-C |
c.1533G>C |
p.Q511H |
Missense |
15/22 |
- |
1 |
11-22281193-A-G |
c.1536A>G |
p.I512M |
Missense |
15/22 |
- |
1 |
11-22281195-C-T |
c.1538C>T |
p.T513I |
Missense |
15/22 |
- |
15 |
11-22281194-A-ACCCCATCTCTCAG |
c.1539_1540insCCATCTCTCAGCC |
p.T514Pfs*25 |
Frameshift |
15/22 |
- |
1 |
11-22281198-CA-TG |
c.1541_1542inv |
p.T514M |
Missense |
15/22 |
- |
1 |
11-22281198-C-G |
c.1541C>G |
p.T514R |
Missense |
15/22 |
- |
1 |
11-22281198-C-T |
c.1541C>T |
p.T514I |
Missense |
15/22 |
- |
1 |
11-22281199-A-C |
c.1542A>C |
p.T514= |
Synonymous |
15/22 |
- |
1 |
11-22281199-A-G |
c.1542A>G |
p.T514= |
Synonymous |
15/22 |
- |
3 |
11-22281199-A-T |
c.1542A>T |
p.T514= |
Synonymous |
15/22 |
- |
1 |
11-22281202-A-G |
c.1545A>G |
p.S515= |
Synonymous |
15/22 |
- |
3 |
11-22281207-C-A |
c.1550C>A |
p.T517K |
Missense |
15/22 |
- |
2 |
11-22281207-C-T |
c.1550C>T |
p.T517I |
Missense |
15/22 |
- |
2 |
11-22281209-G-A |
c.1552G>A |
p.G518R |
Missense |
15/22 |
- |
2 |
11-22281209-G-C |
c.1552G>C |
p.G518R |
Missense |
15/22 |
- |
1 |
11-22281210-G-A |
c.1553G>A |
p.G518E |
Missense |
15/22 |
- |
8 |
11-22281210-G-C |
c.1553G>C |
p.G518A |
Missense |
15/22 |
- |
1 |
11-22281213-C-T |
c.1556C>T |
p.S519L |
Missense |
15/22 |
- |
3 |
11-22281216-G-A |
c.1559G>A |
p.C520Y |
Missense |
15/22 |
- |
1 |
11-22281216-G-T |
c.1559G>T |
p.C520F |
Missense |
15/22 |
- |
1 |
11-22281220-G-A |
c.1563G>A |
p.L521= |
Synonymous |
15/22 |
- |
1 |
11-22281223-C-A |
c.1566C>A |
p.N522K |
Missense |
15/22 |
- |
1 |
11-22281223-C-G |
c.1566C>G |
p.N522K |
Missense |
15/22 |
- |
1 |
11-22281223-C-T |
c.1566C>T |
p.N522= |
Synonymous |
15/22 |
- |
1 |
11-22281226-T-C |
c.1569T>C |
p.F523= |
Synonymous |
15/22 |
- |
1 |
11-22281227-A-G |
c.1570A>G |
p.I524V |
Missense |
15/22 |
- |
1 |
11-22281229-T-G |
c.1572T>G |
p.I524M |
Missense |
15/22 |
- |
1 |
11-22281233-A-T |
c.1576A>T |
p.I526F |
Missense |
15/22 |
- |
1 |
11-22281235-C-G |
c.1578C>G |
p.I526M |
Missense |
15/22 |
- |
1 |
11-22281236-TT-GA |
c.1579_1580delinsGA |
p.L527E |
Missense |
15/22 |
- |
1 |
11-22281241-C-A |
c.1584C>A |
p.I528= |
Synonymous |
15/22 |
- |
1 |
11-22281241-C-T |
c.1584C>T |
p.I528= |
Synonymous |
15/22 |
- |
2 |
11-22281249-T-G |
c.1592T>G |
p.F531C |
Missense |
15/22 |
- |
1 |
11-22281250-C-A |
c.1593C>A |
p.F531L |
Missense |
15/22 |
- |
1 |
11-22281250-C-T |
c.1593C>T |
p.F531= |
Synonymous |
15/22 |
- |
1 |
11-22281251-T-C |
c.1594T>C |
p.F532L |
Missense |
15/22 |
- |
1 |
11-22281262-G-T |
c.1605G>T |
p.K535N |
Missense |
15/22 |
- |
2 |
11-22281266-T-C |
c.1609T>C |
p.S537P |
Missense |
15/22 |
- |
2 |
11-22281269-G-T |
c.1612G>T |
p.A538S |
Missense |
15/22 |
- |
1 |
11-22281279-C-CA |
c.1627dup |
p.M543Nfs*11 |
Frameshift |
15/22 |
- |
11 |
11-22281285-T-G |
c.1628T>G |
p.M543R |
Missense |
15/22 |
- |
2 |
11-22281285-TG-AC |
c.1628_1629delinsAC |
p.M543N |
Missense |
15/22 |
- |
2 |
11-22281286-G-A |
c.1629G>A |
p.M543I |
Missense |
15/22 |
- |
1 |
11-22281286-G-C |
c.1629G>C |
p.M543I |
Missense |
15/22 |
- |
1 |
11-22281286-G-T |
c.1629G>T |
p.M543I |
Missense |
15/22 |
- |
1 |
11-22281288-G-A |
c.1630+1G>A |
- |
IntronicSNV |
- |
15/21 |
1 |
11-22281289-T-G |
c.1630+2T>G |
- |
IntronicSNV |
- |
15/21 |
1 |
11-22281348-T-G |
c.1630+61T>G |
- |
IntronicSNV |
- |
15/21 |
2 |
11-22282088-C-A |
c.1630+801C>A |
- |
IntronicSNV |
- |
15/21 |
1 |
11-22283680-C-T |
c.1636C>T |
p.P546S |
Missense |
16/22 |
- |
3 |
11-22283681-C-A |
c.1637C>A |
p.P546H |
Missense |
16/22 |
- |
2 |
11-22283683-C-A |
c.1639C>A |
p.R547= |
Synonymous |
16/22 |
- |
1 |
11-22283683-CGA-TGG |
c.1639_1641delinsTGG |
p.R547W |
Missense |
16/22 |
- |
1 |
11-22283683-CGA-TGT |
c.1639_1641delinsTGT |
p.R547C |
Missense |
16/22 |
- |
1 |
11-22283683-C-T |
c.1639C>T |
p.R547* |
Nonsense |
16/22 |
- |
4 |
11-22283684-G-A |
c.1640G>A |
p.R547Q |
Missense |
16/22 |
- |
8 |
11-22283687-C-T |
c.1643C>T |
p.T548I |
Missense |
16/22 |
- |
2 |
11-22283690-A-G |
c.1646A>G |
p.Y549C |
Missense |
16/22 |
- |
1 |
11-22283694-G-A |
c.1650G>A |
p.Q550= |
Synonymous |
16/22 |
- |
1 |
11-22283694-G-C |
c.1650G>C |
p.Q550H |
Missense |
16/22 |
- |
1 |
11-22283694-G-T |
c.1650G>T |
p.Q550H |
Missense |
16/22 |
- |
1 |
11-22283697-G-C |
c.1653G>C |
p.E551D |
Missense |
16/22 |
- |
1 |
11-22283698-T-G |
c.1654T>G |
p.Y552D |
Missense |
16/22 |
- |
2 |
11-22283701-G-A |
c.1657G>A |
p.E553K |
Missense |
16/22 |
- |
1 |
11-22283704-GA-G |
c.1660del |
p.S554Afs*5 |
Frameshift |
16/22 |
- |
1 |
11-22283705-G-T |
c.1661G>T |
p.S554I |
Missense |
16/22 |
- |
1 |
11-22283708-G-A |
c.1664G>A |
p.S555N |
Missense |
16/22 |
- |
1 |
11-22283708-G-T |
c.1664G>T |
p.S555I |
Missense |
16/22 |
- |
8 |
11-22283707-A-C |
c.1663A>C |
p.S555R |
Missense |
16/22 |
- |
1 |
11-22283709-T-A |
c.1665T>A |
p.S555R |
Missense |
16/22 |
- |
1 |
11-22283709-T-G |
c.1665T>G |
p.S555R |
Missense |
16/22 |
- |
1 |
11-22283711-T-C |
c.1667T>C |
p.L556P |
Missense |
16/22 |
- |
1 |
11-22283724-G-A |
c.1680G>A |
p.M560I |
Missense |
16/22 |
- |
1 |
11-22283722-ATGTTCC-A |
c.1683_1688del |
p.L562_F563del |
InFrameDeletion |
16/22 |
- |
1 |
11-22283727-C-T |
c.1683C>T |
p.F561= |
Synonymous |
16/22 |
- |
3 |
11-22283728-C-T |
c.1684C>T |
p.L562= |
Synonymous |
16/22 |
- |
4 |
11-22283729-TGTTTCA-T |
c.1690_1695del |
p.Q564_F565del |
InFrameDeletion |
16/22 |
- |
1 |
11-22283734-C-T |
c.1690C>T |
p.Q564* |
Nonsense |
16/22 |
- |
1 |
11-22283735-A-G |
c.1691A>G |
p.Q564R |
Missense |
16/22 |
- |
2 |
11-22283735-A-T |
c.1691A>T |
p.Q564L |
Missense |
16/22 |
- |
1 |
11-22283738-T-C |
c.1694T>C |
p.F565S |
Missense |
16/22 |
- |
1 |
11-22283745-T-A |
c.1701T>A |
p.N567K |
Missense |
16/22 |
- |
1 |
11-22283745-T-G |
c.1701T>G |
p.N567K |
Missense |
16/22 |
- |
1 |
11-22283746-T-C |
c.1702T>C |
p.F568L |
Missense |
16/22 |
- |
1 |
11-22283748-T-A |
c.1704T>A |
p.F568L |
Missense |
16/22 |
- |
1 |
11-22283748-T-G |
c.1704T>G |
p.F568L |
Missense |
16/22 |
- |
1 |
11-22283759-G-A |
c.1715G>A |
p.C572Y |
Missense |
16/22 |
- |
1 |
11-22283760-C-A |
c.1716C>A |
p.C572* |
Nonsense |
16/22 |
- |
1 |
11-22283761-T-G |
c.1717T>G |
p.F573V |
Missense |
16/22 |
- |
1 |
11-22283763-C-T |
c.1719C>T |
p.F573= |
Synonymous |
16/22 |
- |
1 |
11-22283766-C-T |
c.1722C>T |
p.Y574= |
Synonymous |
16/22 |
- |
2 |
11-22283767-G-T |
c.1723G>T |
p.V575L |
Missense |
16/22 |
- |
1 |
11-22283771-C-T |
c.1727C>T |
p.A576V |
Missense |
16/22 |
- |
2 |
11-22283774-T-C |
c.1730T>C |
p.F577S |
Missense |
16/22 |
- |
2 |
11-22283776-T-C |
c.1732T>C |
p.F578L |
Missense |
16/22 |
- |
1 |
11-22283777-T-C |
c.1733T>C |
p.F578S |
Missense |
16/22 |
- |
20 |
11-22283778-T-TA |
c.1737dup |
p.G580Rfs*15 |
Frameshift |
16/22 |
- |
1 |
11-22283785-A-G |
c.1741A>G |
p.K581E |
Missense |
16/22 |
- |
1 |
11-22283790-C-A |
c.1746C>A |
p.F582L |
Missense |
16/22 |
- |
1 |
11-22283790-C-T |
c.1746C>T |
p.F582= |
Synonymous |
16/22 |
- |
11 |
11-22283791-G-A |
c.1747G>A |
p.V583I |
Missense |
16/22 |
- |
7 |
11-22283794-G-T |
c.1750G>T |
p.G584C |
Missense |
16/22 |
- |
3 |
11-22283795-G-C |
c.1751G>C |
p.G584A |
Missense |
16/22 |
- |
2 |
11-22283796-C-A |
c.1752C>A |
p.G584= |
Synonymous |
16/22 |
- |
2 |
11-22283796-C-G |
c.1752C>G |
p.G584= |
Synonymous |
16/22 |
- |
1 |
11-22283796-C-T |
c.1752C>T |
p.G584= |
Synonymous |
16/22 |
- |
1 |
11-22283797-T-G |
c.1753T>G |
p.Y585D |
Missense |
16/22 |
- |
1 |
11-22283799-T-A |
c.1755T>A |
p.Y585* |
Nonsense |
16/22 |
- |
1 |
11-22283800-C-T |
c.1756C>T |
p.P586S |
Missense |
16/22 |
- |
6 |
11-22283804-G-A |
c.1760G>A |
p.G587E |
Missense |
16/22 |
- |
1 |
11-22283806-AA-GC |
c.1762_1763delinsGC |
p.K588A |
Missense |
16/22 |
- |
1 |
11-22283811-C-A |
c.1767C>A |
p.Y589* |
Nonsense |
16/22 |
- |
1 |
11-22283817-T-A |
c.1773T>A |
p.Y591* |
Nonsense |
16/22 |
- |
1 |
11-22283817-T-G |
c.1773T>G |
p.Y591* |
Nonsense |
16/22 |
- |
1 |
11-22283824-A-G |
c.1780A>G |
p.N594D |
Missense |
16/22 |
- |
1 |
11-22283827-G-A |
c.1783G>A |
p.E595K |
Missense |
16/22 |
- |
1 |
11-22283829-G-A |
c.1785G>A |
p.E595= |
Synonymous |
16/22 |
- |
1 |
11-22283832-G-C |
c.1788G>C |
p.W596C |
Missense |
16/22 |
- |
1 |
11-22283832-G-T |
c.1788G>T |
p.W596C |
Missense |
16/22 |
- |
1 |
11-22283834-G-T |
c.1790G>T |
p.R597I |
Missense |
16/22 |
- |
5 |
11-22283839-G-A |
c.1795G>A |
p.E599K |
Missense |
16/22 |
- |
2 |
11-22283841-A-G |
c.1797A>G |
p.E599= |
Synonymous |
16/22 |
- |
1 |
11-22283842-G-A |
c.1798G>A |
p.E600K |
Missense |
16/22 |
- |
1 |
11-22284492-T-C |
c.1801T>C |
p.C601R |
Missense |
17/22 |
- |
1 |
11-22284493-G-A |
c.1802G>A |
p.C601Y |
Missense |
17/22 |
- |
1 |
11-22284494-T-A |
c.1803T>A |
p.C601* |
Nonsense |
17/22 |
- |
2 |
11-22284495-G-A |
c.1804G>A |
p.D602N |
Missense |
17/22 |
- |
6 |
11-22284495-G-C |
c.1804G>C |
p.D602H |
Missense |
17/22 |
- |
1 |
11-22284497-T-A |
c.1806T>A |
p.D602E |
Missense |
17/22 |
- |
2 |
11-22284498-C-T |
c.1807C>T |
p.P603S |
Missense |
17/22 |
- |
1 |
11-22284499-C-G |
c.1808C>G |
p.P603R |
Missense |
17/22 |
- |
1 |
11-22284499-C-T |
c.1808C>T |
p.P603L |
Missense |
17/22 |
- |
2 |
11-22284502-G-A |
c.1811G>A |
p.G604E |
Missense |
17/22 |
- |
2 |
11-22284506-C-A |
c.1815C>A |
p.G605= |
Synonymous |
17/22 |
- |
1 |
11-22284506-C-G |
c.1815C>G |
p.G605= |
Synonymous |
17/22 |
- |
1 |
11-22284506-C-T |
c.1815C>T |
p.G605= |
Synonymous |
17/22 |
- |
2 |
11-22284514-T-C |
c.1823T>C |
p.I608T |
Missense |
17/22 |
- |
1 |
11-22284516-G-A |
c.1825G>A |
p.E609K |
Missense |
17/22 |
- |
1 |
11-22284518-A-C |
c.1827A>C |
p.E609D |
Missense |
17/22 |
- |
1 |
11-22284518-A-T |
c.1827A>T |
p.E609D |
Missense |
17/22 |
- |
1 |
11-22284526-C-T |
c.1835C>T |
p.T612I |
Missense |
17/22 |
- |
1 |
11-22284530-A-G |
c.1839A>G |
p.Q613= |
Synonymous |
17/22 |
- |
1 |
11-22284533-G-A |
c.1842G>A |
p.L614= |
Synonymous |
17/22 |
- |
2 |
11-22284533-G-T |
c.1842G>T |
p.L614F |
Missense |
17/22 |
- |
1 |
11-22284542-A-C |
c.1851A>C |
p.I617= |
Synonymous |
17/22 |
- |
2 |
11-22284542-A-T |
c.1851A>T |
p.I617= |
Synonymous |
17/22 |
- |
3 |
11-22284545-G-A |
c.1854G>A |
p.M618I |
Missense |
17/22 |
- |
1 |
11-22284545-G-C |
c.1854G>C |
p.M618I |
Missense |
17/22 |
- |
1 |
11-22284549-G-A |
c.1858G>A |
p.G620R |
Missense |
17/22 |
- |
1 |
11-22284549-G-T |
c.1858G>T |
p.G620W |
Missense |
17/22 |
- |
1 |
11-22284550-G-A |
c.1859G>A |
p.G620E |
Missense |
17/22 |
- |
1 |
11-22284551-G-A |
c.1860G>A |
p.G620= |
Synonymous |
17/22 |
- |
1 |
11-22284557-G-A |
c.1866G>A |
p.Q622= |
Synonymous |
17/22 |
- |
5 |
11-22284564-G-A |
c.1873G>A |
p.G625R |
Missense |
17/22 |
- |
2 |
11-22284565-G-A |
c.1874G>A |
p.G625E |
Missense |
17/22 |
- |
1 |
11-22284568-A-T |
c.1877A>T |
p.N626I |
Missense |
17/22 |
- |
1 |
11-22284569-C-T |
c.1878C>T |
p.N626= |
Synonymous |
17/22 |
- |
1 |
11-22284571-T-A |
c.1880T>A |
p.I627N |
Missense |
17/22 |
- |
1 |
11-22284576-G-A |
c.1885G>A |
p.E629K |
Missense |
17/22 |
- |
2 |
11-22284576-G-T |
c.1885G>T |
p.E629* |
Nonsense |
17/22 |
- |
2 |
11-22284580-C-G |
c.1889C>G |
p.A630G |
Missense |
17/22 |
- |
1 |
11-22284581-C-T |
c.1890C>T |
p.A630= |
Synonymous |
17/22 |
- |
1 |
11-22284582-AT-A |
c.1894del |
p.Y632Ifs*5 |
Frameshift |
17/22 |
- |
1 |
11-22284586-A-C |
c.1895A>C |
p.Y632S |
Missense |
17/22 |
- |
1 |
11-22284588-C-G |
c.1897C>G |
p.P633A |
Missense |
17/22 |
- |
2 |
11-22284590-G-A |
c.1898+1G>A |
- |
IntronicSNV |
- |
17/21 |
11 |
11-22291859-T-C |
c.1900T>C |
p.L634= |
Synonymous |
18/22 |
- |
1 |
11-22291861-G-A |
c.1902G>A |
p.L634= |
Synonymous |
18/22 |
- |
1 |
11-22291867-G-C |
c.1908G>C |
p.L636F |
Missense |
18/22 |
- |
1 |
11-22291869-A-G |
c.1910A>G |
p.N637S |
Missense |
18/22 |
- |
1 |
11-22291871-T-A |
c.1912T>A |
p.W638R |
Missense |
18/22 |
- |
1 |
11-22291871-T-C |
c.1912T>C |
p.W638R |
Missense |
18/22 |
- |
1 |
11-22291872-G-T |
c.1913G>T |
p.W638L |
Missense |
18/22 |
- |
1 |
11-22291873-G-C |
c.1914G>C |
p.W638C |
Missense |
18/22 |
- |
1 |
11-22291873-G-T |
c.1914G>T |
p.W638C |
Missense |
18/22 |
- |
1 |
11-22291874-T-A |
c.1915T>A |
p.W639R |
Missense |
18/22 |
- |
1 |
11-22291874-T-C |
c.1915T>C |
p.W639R |
Missense |
18/22 |
- |
1 |
11-22291880-C-T |
c.1921C>T |
p.R641C |
Missense |
18/22 |
- |
2 |
11-22291881-G-A |
c.1922G>A |
p.R641H |
Missense |
18/22 |
- |
2 |
11-22291881-GC-AA |
c.1922_1923delinsAA |
p.R641Q |
Missense |
18/22 |
- |
1 |
11-22291883-C-G |
c.1924C>G |
p.R642G |
Missense |
18/22 |
- |
1 |
11-22291883-C-T |
c.1924C>T |
p.R642* |
Nonsense |
18/22 |
- |
2 |
11-22291884-G-A |
c.1925G>A |
p.R642Q |
Missense |
18/22 |
- |
7 |
11-22291884-G-T |
c.1925G>T |
p.R642L |
Missense |
18/22 |
- |
1 |
11-22291889-G-A |
c.1930G>A |
p.A644T |
Missense |
18/22 |
- |
1 |
11-22291892-C-T |
c.1933C>T |
p.R645W |
Missense |
18/22 |
- |
2 |
11-22291893-G-A |
c.1934G>A |
p.R645Q |
Missense |
18/22 |
- |
5 |
11-22291893-G-C |
c.1934G>C |
p.R645P |
Missense |
18/22 |
- |
1 |
11-22291893-G-T |
c.1934G>T |
p.R645L |
Missense |
18/22 |
- |
1 |
11-22291896-C-T |
c.1937C>T |
p.T646I |
Missense |
18/22 |
- |
1 |
11-22291897-A-C |
c.1938A>C |
p.T646= |
Synonymous |
18/22 |
- |
1 |
11-22291897-A-G |
c.1938A>G |
p.T646= |
Synonymous |
18/22 |
- |
1 |
11-22291897-A-T |
c.1938A>T |
p.T646= |
Synonymous |
18/22 |
- |
1 |
11-22291908-A-T |
c.1949A>T |
p.K650M |
Missense |
18/22 |
- |
1 |
11-22291913-T-A |
c.1954T>A |
p.Y652N |
Missense |
18/22 |
- |
2 |
11-22291913-T-G |
c.1954T>G |
p.Y652D |
Missense |
18/22 |
- |
1 |
11-22291914-A-G |
c.1955A>G |
p.Y652C |
Missense |
18/22 |
- |
1 |
11-22291916-A-G |
c.1957A>G |
p.S653G |
Missense |
18/22 |
- |
1 |
11-22291917-G-A |
c.1958G>A |
p.S653N |
Missense |
18/22 |
- |
2 |
11-22291917-G-T |
c.1958G>T |
p.S653I |
Missense |
18/22 |
- |
5 |
11-22291919-C-T |
c.1960C>T |
p.R654* |
Nonsense |
18/22 |
- |
1 |
11-22291920-G-A |
c.1961G>A |
p.R654Q |
Missense |
18/22 |
- |
2 |
11-22291923-G-A |
c.1964G>A |
p.W655* |
Nonsense |
18/22 |
- |
2 |
11-22291924-G-A |
c.1965G>A |
p.W655* |
Nonsense |
18/22 |
- |
3 |
11-22291924-G-C |
c.1965G>C |
p.W655C |
Missense |
18/22 |
- |
4 |
11-22291924-G-T |
c.1965G>T |
p.W655C |
Missense |
18/22 |
- |
1 |
11-22291925-G-A |
c.1966G>A |
p.E656K |
Missense |
18/22 |
- |
1 |
11-22291925-G-T |
c.1966G>T |
p.E656* |
Nonsense |
18/22 |
- |
1 |
11-22291931-G-A |
c.1972G>A |
p.D658N |
Missense |
18/22 |
- |
1 |
11-22291934-C-A |
c.1975C>A |
p.H659N |
Missense |
18/22 |
- |
1 |
11-22291935-A-T |
c.1976A>T |
p.H659L |
Missense |
18/22 |
- |
1 |
11-22291936-T-A |
c.1977T>A |
p.H659Q |
Missense |
18/22 |
- |
1 |
11-22291936-T-G |
c.1977T>G |
p.H659Q |
Missense |
18/22 |
- |
1 |
11-22291937-G-A |
c.1978G>A |
p.D660N |
Missense |
18/22 |
- |
1 |
11-22291937-G-T |
c.1978G>T |
p.D660Y |
Missense |
18/22 |
- |
3 |
11-22291940-C-A |
c.1981C>A |
p.L661I |
Missense |
18/22 |
- |
1 |
11-22291941-T-C |
c.1982T>C |
p.L661P |
Missense |
18/22 |
- |
1 |
11-22291940-CT-C |
c.1983del |
p.E662Kfs*13 |
Frameshift |
18/22 |
- |
1 |
11-22291944-A-G |
c.1985A>G |
p.E662G |
Missense |
18/22 |
- |
1 |
11-22291946-A-C |
c.1987A>C |
p.S663R |
Missense |
18/22 |
- |
1 |
11-22291946-A-G |
c.1987A>G |
p.S663G |
Missense |
18/22 |
- |
1 |
11-22291949-T-G |
c.1990T>G |
p.F664V |
Missense |
18/22 |
- |
1 |
11-22291950-T-G |
c.1991T>G |
p.F664C |
Missense |
18/22 |
- |
1 |
11-22291955-C-G |
c.1996C>G |
p.P666A |
Missense |
18/22 |
- |
1 |
11-22291958-C-G |
c.1999C>G |
p.L667V |
Missense |
18/22 |
- |
3 |
11-22291958-C-T |
c.1999C>T |
p.L667F |
Missense |
18/22 |
- |
2 |
11-22291959-T-C |
c.2000T>C |
p.L667P |
Missense |
18/22 |
- |
2 |
11-22291961-GGG-TGT |
c.2002_2004delinsTGT |
p.G668C |
Missense |
18/22 |
- |
2 |
11-22291962-G-T |
c.2003G>T |
p.G668V |
Missense |
18/22 |
- |
1 |
11-22291960-TG-T |
c.2004del |
p.L669Ffs*6 |
Frameshift |
18/22 |
- |
2 |
11-22291963-G-A |
c.2004G>A |
p.G668= |
Synonymous |
18/22 |
- |
2 |
11-22291963-G-C |
c.2004G>C |
p.G668= |
Synonymous |
18/22 |
- |
1 |
11-22291963-G-T |
c.2004G>T |
p.G668= |
Synonymous |
18/22 |
- |
1 |
11-22291967-T-C |
c.2008T>C |
p.F670L |
Missense |
18/22 |
- |
2 |
11-22291969-C-A |
c.2010C>A |
p.F670L |
Missense |
18/22 |
- |
3 |
11-22291969-C-G |
c.2010C>G |
p.F670L |
Missense |
18/22 |
- |
4 |
11-22291969-C-T |
c.2010C>T |
p.F670= |
Synonymous |
18/22 |
- |
2 |
11-22291971-A-G |
c.2012A>G |
p.Y671C |
Missense |
18/22 |
- |
2 |
11-22291973-G-A |
c.2014G>A |
p.E672K |
Missense |
18/22 |
- |
1 |
11-22291977-A-G |
c.2018A>G |
p.Y673C |
Missense |
18/22 |
- |
6 |
11-22291980-T-A |
c.2021T>A |
p.L674* |
Nonsense |
18/22 |
- |
2 |
11-22291980-T-G |
c.2021T>G |
p.L674* |
Nonsense |
18/22 |
- |
1 |
11-22291982-G-T |
c.2023G>T |
p.E675* |
Nonsense |
18/22 |
- |
2 |
11-22291985-A-G |
c.2026A>G |
p.T676A |
Missense |
18/22 |
- |
2 |
11-22291989-G-GT |
c.2029+2dup |
- |
IntronicInsertion |
- |
18/21 |
2 |
11-22291990-T-A |
c.2029+2T>A |
- |
IntronicSNV |
- |
18/21 |
1 |
11-22293480-T-C |
c.2030-850T>C |
- |
IntronicSNV |
- |
18/21 |
1 |
11-22294332-A-T |
c.2032A>T |
p.T678S |
Missense |
19/22 |
- |
1 |
11-22294333-C-G |
c.2033C>G |
p.T678S |
Missense |
19/22 |
- |
1 |
11-22294333-C-T |
c.2033C>T |
p.T678I |
Missense |
19/22 |
- |
1 |
11-22294339-T-G |
c.2039T>G |
p.F680C |
Missense |
19/22 |
- |
1 |
11-22294344-T-A |
c.2044T>A |
p.F682I |
Missense |
19/22 |
- |
1 |
11-22294348-T-C |
c.2048T>C |
p.V683A |
Missense |
19/22 |
- |
1 |
11-22294356-T-C |
c.2056T>C |
p.F686L |
Missense |
19/22 |
- |
1 |
11-22294358-T-A |
c.2058T>A |
p.F686L |
Missense |
19/22 |
- |
1 |
11-22294358-T-G |
c.2058T>G |
p.F686L |
Missense |
19/22 |
- |
1 |
11-22294362-G-A |
c.2062G>A |
p.A688T |
Missense |
19/22 |
- |
1 |
11-22294362-G-T |
c.2062G>T |
p.A688S |
Missense |
19/22 |
- |
1 |
11-22294371-C-A |
c.2071C>A |
p.P691T |
Missense |
19/22 |
- |
9 |
11-22294371-CC-TT |
c.2071_2072delinsTT |
p.P691F |
Missense |
19/22 |
- |
1 |
11-22294371-C-T |
c.2071C>T |
p.P691S |
Missense |
19/22 |
- |
7 |
11-22294372-C-A |
c.2072C>A |
p.P691H |
Missense |
19/22 |
- |
1 |
11-22294372-C-T |
c.2072C>T |
p.P691L |
Missense |
19/22 |
- |
2 |
11-22294377-G-A |
c.2077G>A |
p.A693T |
Missense |
19/22 |
- |
1 |
11-22294378-C-A |
c.2078C>A |
p.A693D |
Missense |
19/22 |
- |
4 |
11-22294380-C-A |
c.2080C>A |
p.P694T |
Missense |
19/22 |
- |
1 |
11-22294380-C-G |
c.2080C>G |
p.P694A |
Missense |
19/22 |
- |
1 |
11-22294380-C-T |
c.2080C>T |
p.P694S |
Missense |
19/22 |
- |
1 |
11-22294380-TCC-T |
c.2080_2081del |
p.P694Sfs*7 |
Frameshift |
19/22 |
- |
2 |
11-22294381-C-G |
c.2081C>G |
p.P694R |
Missense |
19/22 |
- |
1 |
11-22294383-C-T |
c.2083C>T |
p.L695F |
Missense |
19/22 |
- |
1 |
11-22294384-T-C |
c.2084T>C |
p.L695P |
Missense |
19/22 |
- |
1 |
11-22294385-T-A |
c.2085T>A |
p.L695= |
Synonymous |
19/22 |
- |
2 |
11-22294389-G-A |
c.2089G>A |
p.A697T |
Missense |
19/22 |
- |
1 |
11-22294393-T-C |
c.2093T>C |
p.L698P |
Missense |
19/22 |
- |
1 |
11-22294396-T-C |
c.2096T>C |
p.I699T |
Missense |
19/22 |
- |
1 |
11-22294401-A-G |
c.2101A>G |
p.N701D |
Missense |
19/22 |
- |
3 |
11-22294402-A-G |
c.2102A>G |
p.N701S |
Missense |
19/22 |
- |
1 |
11-22294405-T-C |
c.2105T>C |
p.I702T |
Missense |
19/22 |
- |
1 |
11-22294412-G-C |
c.2112G>C |
p.E704D |
Missense |
19/22 |
- |
2 |
11-22294412-G-T |
c.2112G>T |
p.E704D |
Missense |
19/22 |
- |
2 |
11-22294416-C-T |
c.2116C>T |
p.R706* |
Nonsense |
19/22 |
- |
6 |
11-22294417-G-A |
c.2117G>A |
p.R706Q |
Missense |
19/22 |
- |
6 |
11-22294417-G-C |
c.2117G>C |
p.R706P |
Missense |
19/22 |
- |
1 |
11-22294421-G-T |
c.2121G>T |
p.V707= |
Synonymous |
19/22 |
- |
1 |
11-22294422-G-A |
c.2122G>A |
p.D708N |
Missense |
19/22 |
- |
1 |
11-22294423-A-G |
c.2123A>G |
p.D708G |
Missense |
19/22 |
- |
1 |
11-22294425-G-A |
c.2125G>A |
p.A709T |
Missense |
19/22 |
- |
3 |
11-22294429-G-A |
c.2129G>A |
p.W710* |
Nonsense |
19/22 |
- |
1 |
11-22294430-G-A |
c.2130G>A |
p.W710* |
Nonsense |
19/22 |
- |
1 |
11-22294437-A-G |
c.2137A>G |
p.T713A |
Missense |
19/22 |
- |
1 |
11-22294437-A-T |
c.2137A>T |
p.T713S |
Missense |
19/22 |
- |
1 |
11-22294438-C-A |
c.2138C>A |
p.T713N |
Missense |
19/22 |
- |
2 |
11-22294438-C-G |
c.2138C>G |
p.T713S |
Missense |
19/22 |
- |
1 |
11-22294440-A-G |
c.2140A>G |
p.T714A |
Missense |
19/22 |
- |
1 |
11-22294440-A-T |
c.2140A>T |
p.T714S |
Missense |
19/22 |
- |
4 |
11-22294441-AC-A |
c.2141del |
p.T714Ifs*7 |
Frameshift |
19/22 |
- |
1 |
11-22294441-C-G |
c.2141C>G |
p.T714S |
Missense |
19/22 |
- |
12 |
11-22294444-A-T |
c.2144A>T |
p.Q715L |
Missense |
19/22 |
- |
1 |
11-22294449-AGG-TGT |
c.2149_2151delinsTGT |
p.R717C |
Missense |
19/22 |
- |
1 |
11-22294455-A-T |
c.2155A>T |
p.T719S |
Missense |
19/22 |
- |
1 |
11-22294456-C-G |
c.2156C>G |
p.T719S |
Missense |
19/22 |
- |
1 |
11-22294458-G-C |
c.2158G>C |
p.V720L |
Missense |
19/22 |
- |
1 |
11-22294458-G-T |
c.2158G>T |
p.V720L |
Missense |
19/22 |
- |
1 |
11-22294461-G-C |
c.2161G>C |
p.A721P |
Missense |
19/22 |
- |
1 |
11-22294468-AAGCTCAT-A |
c.2172_2178del |
p.H725* |
Frameshift |
19/22 |
- |
1 |
11-22294473-C-G |
c.2173C>G |
p.H725D |
Missense |
19/22 |
- |
1 |
11-22294475-T-C |
c.2175T>C |
p.H725= |
Synonymous |
19/22 |
- |
1 |
11-22294478-C-T |
c.2178C>T |
p.S726= |
Synonymous |
19/22 |
- |
2 |
11-22294479-A-C |
c.2179A>C |
p.I727L |
Missense |
19/22 |
- |
1 |
11-22294479-A-T |
c.2179A>T |
p.I727L |
Missense |
19/22 |
- |
2 |
11-22294481-A-C |
c.2181A>C |
p.I727= |
Synonymous |
19/22 |
- |
1 |
11-22294481-A-G |
c.2181A>G |
p.I727M |
Missense |
19/22 |
- |
4 |
11-22294481-A-T |
c.2181A>T |
p.I727= |
Synonymous |
19/22 |
- |
1 |
11-22294482-G-A |
c.2182G>A |
p.G728S |
Missense |
19/22 |
- |
1 |
11-22294483-G-A |
c.2183G>A |
p.G728D |
Missense |
19/22 |
- |
3 |
11-22294484-T-G |
c.2184T>G |
p.G728= |
Synonymous |
19/22 |
- |
1 |
11-22294490-G-T |
c.2190G>T |
p.W730C |
Missense |
19/22 |
- |
1 |
11-22294491-CA-GC |
c.2191_2192delinsGC |
p.Q731A |
Missense |
19/22 |
- |
1 |
11-22294494-G-T |
c.2194G>T |
p.D732Y |
Missense |
19/22 |
- |
2 |
11-22294495-A-T |
c.2195A>T |
p.D732V |
Missense |
19/22 |
- |
1 |
11-22294497-A-G |
c.2197A>G |
p.I733V |
Missense |
19/22 |
- |
1 |
11-22294500-C-A |
c.2200C>A |
p.L734I |
Missense |
19/22 |
- |
6 |
11-22294501-T-C |
c.2201T>C |
p.L734P |
Missense |
19/22 |
- |
1 |
11-22294501-T-G |
c.2201T>G |
p.L734R |
Missense |
19/22 |
- |
3 |
11-22294504-A-G |
c.2204A>G |
p.Y735C |
Missense |
19/22 |
- |
3 |
11-22294508-A-T |
c.2208A>T |
p.G736= |
Synonymous |
19/22 |
- |
3 |
11-22294513-C-T |
c.2213C>T |
p.A738V |
Missense |
19/22 |
- |
2 |
11-22294514-CT-C |
c.2214del |
p.V739Sfs*21 |
Frameshift |
19/22 |
- |
1 |
11-22294515-G-C |
c.2215G>C |
p.V739L |
Missense |
19/22 |
- |
1 |
11-22294517-C-T |
c.2217C>T |
p.V739= |
Synonymous |
19/22 |
- |
1 |
11-22294518-C-T |
c.2218C>T |
p.L740F |
Missense |
19/22 |
- |
2 |
11-22294521-T-A |
c.2221T>A |
p.S741T |
Missense |
19/22 |
- |
1 |
11-22294521-T-C |
c.2221T>C |
p.S741P |
Missense |
19/22 |
- |
2 |
11-22294521-TC-AA |
c.2221_2222delinsAA |
p.S741N |
Missense |
19/22 |
- |
1 |
11-22294521-TC-AT |
c.2221_2222delinsAT |
p.S741I |
Missense |
19/22 |
- |
1 |
11-22294521-TC-GT |
c.2221_2222delinsGT |
p.S741V |
Missense |
19/22 |
- |
1 |
11-22294521-TCT-GAG |
c.2221_2223delinsGAG |
p.S741E |
Missense |
19/22 |
- |
1 |
11-22294522-C-A |
c.2222C>A |
p.S741Y |
Missense |
19/22 |
- |
1 |
11-22294522-C-T |
c.2222C>T |
p.S741F |
Missense |
19/22 |
- |
1 |
11-22294522-CT-GG |
c.2222_2223delinsGG |
p.S741W |
Missense |
19/22 |
- |
1 |
11-22294524-G-A |
c.2224G>A |
p.V742I |
Missense |
19/22 |
- |
2 |
11-22294525-T-A |
c.2225T>A |
p.V742D |
Missense |
19/22 |
- |
1 |
11-22294531-C-G |
c.2231C>G |
p.T744S |
Missense |
19/22 |
- |
1 |
11-22294539-A-C |
c.2235+4A>C |
- |
IntronicSNV |
- |
19/21 |
1 |
11-22294540-G-A |
c.2235+5G>A |
- |
IntronicSNV |
- |
19/21 |
1 |
11-22294541-TG-T |
c.2235+8del |
- |
IntronicDeletion |
- |
19/21 |
1 |
11-22294584-G-A |
c.2235+49G>A |
- |
IntronicSNV |
- |
19/21 |
1 |
11-22294584-G-T |
c.2235+49G>T |
- |
IntronicSNV |
- |
19/21 |
1 |
11-22296122-T-G |
c.2243T>G |
p.I748S |
Missense |
20/22 |
- |
2 |
11-22296134-C-A |
c.2255C>A |
p.T752K |
Missense |
20/22 |
- |
1 |
11-22296134-C-T |
c.2255C>T |
p.T752M |
Missense |
20/22 |
- |
7 |
11-22296135-G-A |
c.2256G>A |
p.T752= |
Synonymous |
20/22 |
- |
4 |
11-22296135-G-C |
c.2256G>C |
p.T752= |
Synonymous |
20/22 |
- |
1 |
11-22296135-G-T |
c.2256G>T |
p.T752= |
Synonymous |
20/22 |
- |
1 |
11-22296138-A-G |
c.2259A>G |
p.S753= |
Synonymous |
20/22 |
- |
3 |
11-22296138-A-T |
c.2259A>T |
p.S753= |
Synonymous |
20/22 |
- |
1 |
11-22296141-C-T |
c.2262C>T |
p.D754= |
Synonymous |
20/22 |
- |
2 |
11-22296148-C-A |
c.2269C>A |
p.P757T |
Missense |
20/22 |
- |
1 |
11-22296149-C-A |
c.2270C>A |
p.P757H |
Missense |
20/22 |
- |
2 |
11-22296150-C-A |
c.2271C>A |
p.P757= |
Synonymous |
20/22 |
- |
2 |
11-22296150-C-G |
c.2271C>G |
p.P757= |
Synonymous |
20/22 |
- |
1 |
11-22296150-C-T |
c.2271C>T |
p.P757= |
Synonymous |
20/22 |
- |
1 |
11-22296151-CGT-AAG |
c.2272_2274delinsAAG |
p.R758K |
Missense |
20/22 |
- |
1 |
11-22296151-C-T |
c.2272C>T |
p.R758C |
Missense |
20/22 |
- |
32 |
11-22296152-G-A |
c.2273G>A |
p.R758H |
Missense |
20/22 |
- |
3 |
11-22296152-G-T |
c.2273G>T |
p.R758L |
Missense |
20/22 |
- |
3 |
11-22296154-C-G |
c.2275C>G |
p.L759V |
Missense |
20/22 |
- |
2 |
11-22296155-T-C |
c.2276T>C |
p.L759P |
Missense |
20/22 |
- |
1 |
11-22296157-AGT-A |
c.2278_2279del |
p.V760Lfs*19 |
Frameshift |
20/22 |
- |
1 |
11-22296157-G-A |
c.2278G>A |
p.V760I |
Missense |
20/22 |
- |
1 |
11-22296160-T-A |
c.2281T>A |
p.Y761N |
Missense |
20/22 |
- |
2 |
11-22296163-T-A |
c.2284T>A |
p.Y762N |
Missense |
20/22 |
- |
1 |
11-22296164-A-C |
c.2285A>C |
p.Y762S |
Missense |
20/22 |
- |
1 |
11-22296164-A-G |
c.2285A>G |
p.Y762C |
Missense |
20/22 |
- |
2 |
11-22296170-C-T |
c.2291C>T |
p.A764V |
Missense |
20/22 |
- |
1 |
11-22296173-A-T |
c.2294A>T |
p.Y765F |
Missense |
20/22 |
- |
1 |
11-22296174-C-G |
c.2295C>G |
p.Y765* |
Nonsense |
20/22 |
- |
1 |
11-22296177-A-C |
c.2298A>C |
p.S766= |
Synonymous |
20/22 |
- |
1 |
11-22296177-A-G |
c.2298A>G |
p.S766= |
Synonymous |
20/22 |
- |
1 |
11-22296177-A-T |
c.2298A>T |
p.S766= |
Synonymous |
20/22 |
- |
1 |
11-22296179-CA-TG |
c.2300_2301inv |
p.T767M |
Missense |
20/22 |
- |
1 |
11-22296179-C-T |
c.2300C>T |
p.T767I |
Missense |
20/22 |
- |
2 |
11-22296185-C-T |
c.2306C>T |
p.A769V |
Missense |
20/22 |
- |
1 |
11-22296187-A-C |
c.2308A>C |
p.T770P |
Missense |
20/22 |
- |
2 |
11-22296189-A-G |
c.2310A>G |
p.T770= |
Synonymous |
20/22 |
- |
1 |
11-22296185-CCA-C |
c.2311_2312del |
p.Q771Afs*8 |
Frameshift |
20/22 |
- |
3 |
11-22296193-C-A |
c.2314C>A |
p.P772T |
Missense |
20/22 |
- |
2 |
11-22296194-C-T |
c.2315C>T |
p.P772L |
Missense |
20/22 |
- |
1 |
11-22296196-A-G |
c.2317A>G |
p.M773V |
Missense |
20/22 |
- |
1 |
11-22296198-G-A |
c.2319G>A |
p.M773I |
Missense |
20/22 |
- |
1 |
11-22296202-G-A |
c.2323G>A |
p.G775R |
Missense |
20/22 |
- |
1 |
11-22296203-G-A |
c.2324G>A |
p.G775E |
Missense |
20/22 |
- |
2 |
11-22296210-G-C |
c.2331G>C |
p.V777= |
Synonymous |
20/22 |
- |
1 |
11-22296215-A-G |
c.2336A>G |
p.N779S |
Missense |
20/22 |
- |
2 |
11-22296221-T-C |
c.2342T>C |
p.L781P |
Missense |
20/22 |
- |
3 |
11-22296224-C-T |
c.2345C>T |
p.S782L |
Missense |
20/22 |
- |
1 |
11-22296228-A-G |
c.2349A>G |
p.V783= |
Synonymous |
20/22 |
- |
1 |
11-22296231-C-A |
c.2352C>A |
p.F784L |
Missense |
20/22 |
- |
1 |
11-22296232-C-A |
c.2353C>A |
p.L785M |
Missense |
20/22 |
- |
1 |
11-22296233-T-G |
c.2354T>G |
p.L785R |
Missense |
20/22 |
- |
1 |
11-22296232-C-T |
c.2353C>T |
p.L785= |
Synonymous |
20/22 |
- |
2 |
11-22296234-G-A |
c.2355G>A |
p.L785= |
Synonymous |
20/22 |
- |
3 |
11-22296234-G-C |
c.2355G>C |
p.L785= |
Synonymous |
20/22 |
- |
2 |
11-22296234-G-T |
c.2355G>T |
p.L785= |
Synonymous |
20/22 |
- |
2 |
11-22296241-G-A |
c.2362G>A |
p.D788N |
Missense |
20/22 |
- |
1 |
11-22296242-A-G |
c.2363A>G |
p.D788G |
Missense |
20/22 |
- |
1 |
11-22296247-C-T |
c.2368C>T |
p.P790S |
Missense |
20/22 |
- |
2 |
11-22296248-C-G |
c.2369C>G |
p.P790R |
Missense |
20/22 |
- |
1 |
11-22296253-C-A |
c.2374C>A |
p.H792N |
Missense |
20/22 |
- |
1 |
11-22296254-A-C |
c.2375A>C |
p.H792P |
Missense |
20/22 |
- |
3 |
11-22296256-A-G |
c.2377A>G |
p.T793A |
Missense |
20/22 |
- |
2 |
11-22296258-T-G |
c.2379T>G |
p.T793= |
Synonymous |
20/22 |
- |
1 |
11-22296266-C-G |
c.2387C>G |
p.S796W |
Missense |
20/22 |
- |
3 |
11-22296266-C-T |
c.2387C>T |
p.S796L |
Missense |
20/22 |
- |
17 |
11-22296268-G-A |
c.2389G>A |
p.E797K |
Missense |
20/22 |
- |
5 |
11-22296268-G-GA |
c.2394dup |
p.R799Tfs*16 |
Frameshift |
20/22 |
- |
1 |
11-22296274-C-A |
c.2395C>A |
p.R799= |
Synonymous |
20/22 |
- |
1 |
11-22296274-C-G |
c.2395C>G |
p.R799G |
Missense |
20/22 |
- |
2 |
11-22296274-C-T |
c.2395C>T |
p.R799* |
Nonsense |
20/22 |
- |
2 |
11-22296276-A-C |
c.2397A>C |
p.R799= |
Synonymous |
20/22 |
- |
1 |
11-22296276-A-G |
c.2397A>G |
p.R799= |
Synonymous |
20/22 |
- |
1 |
11-22296276-A-T |
c.2397A>T |
p.R799= |
Synonymous |
20/22 |
- |
1 |
11-22296285-C-A |
c.2406C>A |
p.I802= |
Synonymous |
20/22 |
- |
3 |
11-22296285-C-T |
c.2406C>T |
p.I802= |
Synonymous |
20/22 |
- |
1 |
11-22296289-T-A |
c.2410T>A |
p.C804S |
Missense |
20/22 |
- |
3 |
11-22296290-G-C |
c.2411G>C |
p.C804S |
Missense |
20/22 |
- |
5 |
11-22296291-C-T |
c.2412C>T |
p.C804= |
Synonymous |
20/22 |
- |
3 |
11-22296913-C-T |
c.2414+620C>T |
- |
IntronicSNV |
- |
20/21 |
1 |
11-22297642-A-G |
c.2417A>G |
p.Y806C |
Missense |
21/22 |
- |
1 |
11-22297645-G-C |
c.2420G>C |
p.R807T |
Missense |
21/22 |
- |
1 |
11-22297653-AGA-TGT |
c.2428_2430delinsTGT |
p.R810C |
Missense |
21/22 |
- |
1 |
11-22297659-C-T |
c.2434C>T |
p.P812S |
Missense |
21/22 |
- |
4 |
11-22297660-C-T |
c.2435C>T |
p.P812L |
Missense |
21/22 |
- |
4 |
11-22297665-G-A |
c.2440G>A |
p.D814N |
Missense |
21/22 |
- |
3 |
11-22297665-G-C |
c.2440G>C |
p.D814H |
Missense |
21/22 |
- |
1 |
11-22297668-G-A |
c.2443G>A |
p.D815N |
Missense |
21/22 |
- |
2 |
11-22297670-C-T |
c.2445C>T |
p.D815= |
Synonymous |
21/22 |
- |
1 |
11-22297671-G-A |
c.2446G>A |
p.E816K |
Missense |
21/22 |
- |
1 |
11-22297671-G-T |
c.2446G>T |
p.E816* |
Nonsense |
21/22 |
- |
1 |
11-22297673-G-A |
c.2448G>A |
p.E816= |
Synonymous |
21/22 |
- |
1 |
11-22297681-A-G |
c.2456A>G |
p.Y819C |
Missense |
21/22 |
- |
1 |
11-22297683-T-C |
c.2458T>C |
p.F820L |
Missense |
21/22 |
- |
1 |
11-22297685-T-A |
c.2460T>A |
p.F820L |
Missense |
21/22 |
- |
1 |
11-22297685-T-G |
c.2460T>G |
p.F820L |
Missense |
21/22 |
- |
1 |
11-22297686-C-T |
c.2461C>T |
p.H821Y |
Missense |
21/22 |
- |
4 |
11-22297690-A-C |
c.2465A>C |
p.N822T |
Missense |
21/22 |
- |
1 |
11-22297693-T-C |
c.2468T>C |
p.M823T |
Missense |
21/22 |
- |
3 |
11-22297699-T-C |
c.2474T>C |
p.F825S |
Missense |
21/22 |
- |
1 |
11-22297699-T-G |
c.2474T>G |
p.F825C |
Missense |
21/22 |
- |
1 |
11-22297708-T-C |
c.2483T>C |
p.V828A |
Missense |
21/22 |
- |
3 |
11-22297714-C-T |
c.2489C>T |
p.A830V |
Missense |
21/22 |
- |
3 |
11-22297717-C-G |
c.2492C>G |
p.A831G |
Missense |
21/22 |
- |
1 |
11-22297718-C-T |
c.2493C>T |
p.A831= |
Synonymous |
21/22 |
- |
1 |
11-22297719-A-G |
c.2494A>G |
p.K832E |
Missense |
21/22 |
- |
1 |
11-22297721-G-C |
c.2496G>C |
p.K832N |
Missense |
21/22 |
- |
1 |
11-22297721-G-T |
c.2496G>T |
p.K832N |
Missense |
21/22 |
- |
1 |
11-22297723-T-A |
c.2498T>A |
p.M833K |
Missense |
21/22 |
- |
4 |
11-22297728-T-G |
c.2503T>G |
p.F835V |
Missense |
21/22 |
- |
2 |
11-22297732-T-C |
c.2507T>C |
p.I836T |
Missense |
21/22 |
- |
1 |
11-22297740-A-G |
c.2515A>G |
p.M839V |
Missense |
21/22 |
- |
2 |
11-22297741-T-C |
c.2516T>C |
p.M839T |
Missense |
21/22 |
- |
1 |
11-22297741-T-G |
c.2516T>G |
p.M839R |
Missense |
21/22 |
- |
4 |
11-22297770-G-A |
c.2520+25G>A |
- |
IntronicSNV |
- |
21/21 |
4 |
11-22297770-G-C |
c.2520+25G>C |
- |
IntronicSNV |
- |
21/21 |
7 |
11-22297951-T-C |
c.2520+206T>C |
- |
IntronicSNV |
- |
21/21 |
1 |
11-22301083-C-T |
c.2521-7C>T |
- |
IntronicSNV |
- |
21/21 |
1 |
11-22301090-C-A |
c.2521C>A |
p.H841N |
Missense |
22/22 |
- |
2 |
11-22301090-CAT-AAG |
c.2521_2523delinsAAG |
p.H841K |
Missense |
22/22 |
- |
1 |
11-22301090-C-G |
c.2521C>G |
p.H841D |
Missense |
22/22 |
- |
5 |
11-22301091-A-G |
c.2522A>G |
p.H841R |
Missense |
22/22 |
- |
1 |
11-22301099-T-C |
c.2530T>C |
p.F844L |
Missense |
22/22 |
- |
2 |
11-22301101-T-A |
c.2532T>A |
p.F844L |
Missense |
22/22 |
- |
2 |
11-22301101-T-G |
c.2532T>G |
p.F844L |
Missense |
22/22 |
- |
2 |
11-22301101-T-C |
c.2532T>C |
p.F844= |
Synonymous |
22/22 |
- |
1 |
11-22301105-G-A |
c.2536G>A |
p.V846I |
Missense |
22/22 |
- |
1 |
11-22301109-A-C |
c.2540A>C |
p.K847T |
Missense |
22/22 |
- |
4 |
11-22301110-A-C |
c.2541A>C |
p.K847N |
Missense |
22/22 |
- |
5 |
11-22301110-A-T |
c.2541A>T |
p.K847N |
Missense |
22/22 |
- |
1 |
11-22301112-T-G |
c.2543T>G |
p.F848C |
Missense |
22/22 |
- |
2 |
11-22301117-C-T |
c.2548C>T |
p.L850= |
Synonymous |
22/22 |
- |
1 |
11-22301123-T-C |
c.2554T>C |
p.W852R |
Missense |
22/22 |
- |
1 |
11-22301125-G-A |
c.2556G>A |
p.W852* |
Nonsense |
22/22 |
- |
4 |
11-22301125-G-C |
c.2556G>C |
p.W852C |
Missense |
22/22 |
- |
1 |
11-22301125-G-T |
c.2556G>T |
p.W852C |
Missense |
22/22 |
- |
1 |
11-22301127-T-A |
c.2558T>A |
p.M853K |
Missense |
22/22 |
- |
2 |
11-22301128-G-A |
c.2559G>A |
p.M853I |
Missense |
22/22 |
- |
2 |
11-22301128-G-C |
c.2559G>C |
p.M853I |
Missense |
22/22 |
- |
2 |
11-22301128-G-T |
c.2559G>T |
p.M853I |
Missense |
22/22 |
- |
3 |
11-22301131-A-G |
c.2562A>G |
p.I854M |
Missense |
22/22 |
- |
2 |
11-22301138-GT-AC |
c.2569_2570inv |
p.V857T |
Missense |
22/22 |
- |
1 |
11-22301141-CC-AA |
c.2572_2573delinsAA |
p.P858K |
Missense |
22/22 |
- |
1 |
11-22301141-C-T |
c.2572C>T |
p.P858S |
Missense |
22/22 |
- |
1 |
11-22301140-TC-T |
c.2573del |
p.P858Qfs*13 |
Frameshift |
22/22 |
- |
1 |
11-22301147-G-C |
c.2578G>C |
p.D860H |
Missense |
22/22 |
- |
2 |
11-22301151-T-A |
c.2582T>A |
p.V861D |
Missense |
22/22 |
- |
1 |
11-22301153-G-T |
c.2584G>T |
p.V862L |
Missense |
22/22 |
- |
1 |
11-22301154-T-C |
c.2585T>C |
p.V862A |
Missense |
22/22 |
- |
2 |
11-22301156-G-T |
c.2587G>T |
p.E863* |
Nonsense |
22/22 |
- |
1 |
11-22301158-G-A |
c.2589G>A |
p.E863= |
Synonymous |
22/22 |
- |
2 |
11-22301159-AGA-CAT |
c.2590_2592delinsCAT |
p.R864H |
Missense |
22/22 |
- |
1 |
11-22301160-G-C |
c.2591G>C |
p.R864T |
Missense |
22/22 |
- |
1 |
11-22301160-G-T |
c.2591G>T |
p.R864I |
Missense |
22/22 |
- |
3 |
11-22301162-A-C |
c.2593A>C |
p.I865L |
Missense |
22/22 |
- |
1 |
11-22301165-CAAGA-C |
c.2596_2599del |
p.K866Efs*4 |
Frameshift |
22/22 |
- |
1 |
11-22301167-G-T |
c.2598G>T |
p.K866N |
Missense |
22/22 |
- |
1 |
11-22301168-AG-CA |
c.2599_2600delinsCA |
p.R867Q |
Missense |
22/22 |
- |
1 |
11-22301169-G-A |
c.2600G>A |
p.R867K |
Missense |
22/22 |
- |
1 |
11-22301170-A-G |
c.2601A>G |
p.R867= |
Synonymous |
22/22 |
- |
1 |
11-22301173-A-G |
c.2604A>G |
p.E868= |
Synonymous |
22/22 |
- |
1 |
11-22301175-A-G |
c.2606A>G |
p.K869R |
Missense |
22/22 |
- |
1 |
11-22301175-A-T |
c.2606A>T |
p.K869M |
Missense |
22/22 |
- |
1 |
11-22301180-A-C |
c.2611A>C |
p.M871L |
Missense |
22/22 |
- |
2 |
11-22301180-A-T |
c.2611A>T |
p.M871L |
Missense |
22/22 |
- |
1 |
11-22301182-G-A |
c.2613G>A |
p.M871I |
Missense |
22/22 |
- |
2 |
11-22301182-G-C |
c.2613G>C |
p.M871I |
Missense |
22/22 |
- |
1 |
11-22301182-G-T |
c.2613G>T |
p.M871I |
Missense |
22/22 |
- |
1 |
11-22301191-G-A |
c.2622G>A |
p.K874= |
Synonymous |
22/22 |
- |
1 |
11-22301192-A-T |
c.2623A>T |
p.I875F |
Missense |
22/22 |
- |
1 |
11-22301197-C-T |
c.2628C>T |
p.L876= |
Synonymous |
22/22 |
- |
4 |
11-22301198-C-T |
c.2629C>T |
p.H877Y |
Missense |
22/22 |
- |
4 |
11-22301200-T-A |
c.2631T>A |
p.H877Q |
Missense |
22/22 |
- |
1 |
11-22301201-G-A |
c.2632G>A |
p.D878N |
Missense |
22/22 |
- |
5 |
11-22301202-A-G |
c.2633A>G |
p.D878G |
Missense |
22/22 |
- |
1 |
11-22301203-T-A |
c.2634T>A |
p.D878E |
Missense |
22/22 |
- |
1 |
11-22301205-T-C |
c.2636T>C |
p.F879S |
Missense |
22/22 |
- |
1 |
11-22301211-T-G |
c.2642T>G |
p.L881R |
Missense |
22/22 |
- |
1 |
11-22301215-C-A |
c.2646C>A |
p.N882K |
Missense |
22/22 |
- |
3 |
11-22301215-C-G |
c.2646C>G |
p.N882K |
Missense |
22/22 |
- |
6 |
11-22301215-C-T |
c.2646C>T |
p.N882= |
Synonymous |
22/22 |
- |
1 |
11-22301215-CA-C |
c.2649del |
p.K883Nfs*2 |
Frameshift |
22/22 |
- |
1 |
11-22301222-A-G |
c.2653A>G |
p.K885E |
Missense |
22/22 |
- |
2 |
11-22301224-A-G |
c.2655A>G |
p.K885= |
Synonymous |
22/22 |
- |
1 |
11-22301225-G-A |
c.2656G>A |
p.E886K |
Missense |
22/22 |
- |
1 |
11-22301227-G-C |
c.2658G>C |
p.E886D |
Missense |
22/22 |
- |
3 |
11-22301227-G-T |
c.2658G>T |
p.E886D |
Missense |
22/22 |
- |
3 |
11-22301231-T-G |
c.2662T>G |
p.L888V |
Missense |
22/22 |
- |
1 |
11-22301232-T-C |
c.2663T>C |
p.L888S |
Missense |
22/22 |
- |
1 |
11-22301234-G-A |
c.2665G>A |
p.G889R |
Missense |
22/22 |
- |
1 |
11-22301235-G-A |
c.2666G>A |
p.G889E |
Missense |
22/22 |
- |
1 |
11-22301235-G-T |
c.2666G>T |
p.G889V |
Missense |
22/22 |
- |
3 |
11-22301240-A-T |
c.2671A>T |
p.N891Y |
Missense |
22/22 |
- |
1 |
11-22301243-TC-CT |
c.2674_2675delinsCT |
p.S892L |
Missense |
22/22 |
- |
1 |
11-22301244-C-A |
c.2675C>A |
p.S892Y |
Missense |
22/22 |
- |
1 |
11-22301246-A-G |
c.2677A>G |
p.N893D |
Missense |
22/22 |
- |
1 |
11-22301247-A-G |
c.2678A>G |
p.N893S |
Missense |
22/22 |
- |
2 |
11-22301249-G-C |
c.2680G>C |
p.E894Q |
Missense |
22/22 |
- |
1 |
11-22301254-T-C |
c.2685T>C |
p.F895= |
Synonymous |
22/22 |
- |
2 |
11-22301255-G-A |
c.2686G>A |
p.A896T |
Missense |
22/22 |
- |
4 |
11-22301256-C-T |
c.2687C>T |
p.A896V |
Missense |
22/22 |
- |
6 |
11-22301258-A-C |
c.2689A>C |
p.K897Q |
Missense |
22/22 |
- |
1 |
11-22301259-A-T |
c.2690A>T |
p.K897M |
Missense |
22/22 |
- |
1 |
11-22301264-G-A |
c.2695G>A |
p.V899I |
Missense |
22/22 |
- |
1 |
11-22301265-T-C |
c.2696T>C |
p.V899A |
Missense |
22/22 |
- |
1 |
11-22301266-C-A |
c.2697C>A |
p.V899= |
Synonymous |
22/22 |
- |
3 |
11-22301267-A-C |
c.2698A>C |
p.M900L |
Missense |
22/22 |
- |
3 |
11-22301267-A-G |
c.2698A>G |
p.M900V |
Missense |
22/22 |
- |
1 |
11-22301267-A-T |
c.2698A>T |
p.M900L |
Missense |
22/22 |
- |
1 |
11-22301268-T-A |
c.2699T>A |
p.M900K |
Missense |
22/22 |
- |
1 |
11-22301269-G-A |
c.2700G>A |
p.M900I |
Missense |
22/22 |
- |
3 |
11-22301269-G-C |
c.2700G>C |
p.M900I |
Missense |
22/22 |
- |
1 |
11-22301269-G-T |
c.2700G>T |
p.M900I |
Missense |
22/22 |
- |
1 |
11-22301273-G-C |
c.2704G>C |
p.E902Q |
Missense |
22/22 |
- |
1 |
11-22301285-G-A |
c.2716G>A |
p.A906T |
Missense |
22/22 |
- |
1 |
11-22301295-C-A |
c.2726C>A |
p.A909D |
Missense |
22/22 |
- |
1 |
11-22301295-C-T |
c.2726C>T |
p.A909V |
Missense |
22/22 |
- |
1 |
11-22301298-A-T |
c.2729A>T |
p.K910I |
Missense |
22/22 |
- |
3 |
11-22301303-A-G |
c.2734A>G |
p.T912A |
Missense |
22/22 |
- |
1 |
11-22301307-T-C |
c.2738T>C |
p.L913P |
Missense |
22/22 |
- |
1 |
11-22301411-T-TTTTTTTTTTTTTC |
c.*112_*113insCTTTTTTTTTTTT |
- |
3-UTRInsertion |
22/22 |
- |
1 |
11-22301425-C-T |
c.*114C>T |
- |
3-UTRSNV |
22/22 |
- |
4 |
11-22301807-A-G |
c.*496A>G |
- |
3-UTRSNV |
22/22 |
- |
4 |
11-22301807-A-T |
c.*496A>T |
- |
3-UTRSNV |
22/22 |
- |
4 |
11-22302597-G-C |
c.*1286G>C |
- |
3-UTRSNV |
22/22 |
- |
4 |
11-22302597-G-T |
c.*1286G>T |
- |
3-UTRSNV |
22/22 |
- |
4 |
11-22302624-A-G |
c.*1313A>G |
- |
3-UTRSNV |
22/22 |
- |
1 |
11-22302832-T-C |
c.*1521T>C |
- |
3-UTRSNV |
22/22 |
- |
1 |
11-22302832-T-G |
c.*1521T>G |
- |
3-UTRSNV |
22/22 |
- |
1 |
11-22304466-T-C |
c.*3155T>C |
- |
3-UTRSNV |
22/22 |
- |
1 |
11-22304489-C-G |
c.*3178C>G |
- |
3-UTRSNV |
22/22 |
- |
4 |