TTN titin

Annotation transcript: NM_001267550.2

4993 unique variant annotations were identified in 1412 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-179391825-G-A c.107890C>T p.Q35964* Nonsense 363/363 - 2
2-179391825-GT-G c.107889del p.K35963Nfs*9 Frameshift 363/363 - 5
2-179391848-A-G c.107867T>C p.L35956P Missense 363/363 - 2
2-179391865-CT-C c.107850del p.D35951Mfs*3 Frameshift 363/363 - 1
2-179391875-A-T c.107840T>A p.I35947N Missense 363/363 - 4
2-179391875-A-G c.107840T>C p.I35947T Missense 363/363 - 1
2-179391878-T-G c.107837A>C p.H35946P Missense 363/363 - 2
2-179391906-T-C c.107809A>G p.I35937V Missense 363/363 - 1
2-179391926-CA-TTCTCCTTTAC c.107788_107789delinsGTAAAGGAGAA p.W35930delinsVKEK MultiAAMissense 363/363 - 1
2-179391927-A-G c.107788T>C p.W35930R Missense 363/363 - 3
2-179391927-A-T c.107788T>A p.W35930R Missense 363/363 - 1
2-179391959-G-A c.107756C>T p.A35919V Missense 363/363 - 1
2-179391991-A-G c.107724T>C p.I35908= Synonymous 363/363 - 1
2-179391992-A-G c.107723T>C p.I35908T Missense 363/363 - 2
2-179392015-T-C c.107700A>G p.E35900= Synonymous 363/363 - 1
2-179392019-A-G c.107696T>C p.I35899T Missense 363/363 - 2
2-179392028-G-A c.107687C>T p.P35896L Missense 363/363 - 1
2-179392202-G-A c.107651C>T p.T35884I Missense 362/363 - 1
2-179392205-G-A c.107648C>T p.S35883L Missense 362/363 - 1
2-179392206-GA-G c.107647del p.S35883Qfs*10 Frameshift 362/363 - 2
2-179392218-G-A c.107635C>T p.Q35879* Nonsense 362/363 - 4
2-179392250-G-A c.107603C>T p.S35868F Missense 362/363 - 1
2-179392268-G-A c.107585C>T p.S35862F Missense 362/363 - 1
2-179392275-G-A c.107578C>T p.Q35860* Nonsense 362/363 - 4
2-179392277-A-G c.107576T>C p.M35859T Missense 362/363 - 3
2-179392302-T-G c.107551A>C p.M35851L Missense 362/363 - 1
2-179392302-T-A c.107551A>T p.M35851L Missense 362/363 - 1
2-179392308-GC-G c.107545del p.A35849Qfs*16 Frameshift 362/363 - 1
2-179392365-GCCTCCTGCTTGGAGGCAGACATTTGGACTGACTGAGACGAGAAGCTTCCTTGCAAGCTT-G c.107430_107488del p.S35811Lfs*11 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 362/363 - 2
2-179392451-T-C c.107402A>G p.E35801G Missense 362/363 - 1
2-179392455-T-TG c.107397dup p.R35800Qfs*10 Frameshift 362/363 - 1
2-179393000-C-T c.107377+1G>A - IntronicSNV - 361/362 2
2-179393076-C-T c.107302G>A p.D35768N Missense 361/363 - 1
2-179393111-A-G c.107267T>C p.V35756A Missense 361/363 - 2
2-179393113-A-G c.107265T>C p.N35755= Synonymous 361/363 - 1
2-179393276-T-C c.107202A>G p.E35734= Synonymous 360/363 - 1
2-179393296-C-T c.107182G>A p.E35728K Missense 360/363 - 1
2-179393310-CAAGTA-C c.107163_107167del p.F35721Lfs*2 Frameshift 360/363 - 1
2-179393389-C-G c.107089G>C p.E35697Q Missense 360/363 - 1
2-179393482-G-T c.106996C>A p.Q35666K Missense 360/363 - 1
2-179393500-G-A c.106978C>T p.Q35660* Nonsense 360/363 - 2
2-179393503-C-T c.106975G>A p.D35659N Missense 360/363 - 1
2-179393509-C-G c.106969G>C p.G35657R Missense 360/363 - 1
2-179393512-A-T c.106966T>A p.S35656T Missense 360/363 - 1
2-179393519-A-T c.106959T>A p.Y35653* Nonsense 360/363 - 2
2-179393519-A-C c.106959T>G p.Y35653* Nonsense 360/363 - 1
2-179393523-C-T c.106955G>A p.R35652Q Missense 360/363 - 1
2-179393524-G-C c.106954C>G p.R35652G Missense 360/363 - 1
2-179393563-C-G c.106915G>C p.V35639L Missense 360/363 - 1
2-179393584-C-T c.106894G>A p.G35632S Missense 360/363 - 1
2-179393641-A-C c.106837T>G p.S35613A Missense 360/363 - 1
2-179393651-A-C c.106827T>G p.I35609M Missense 360/363 - 1
2-179393691-G-A c.106787C>T p.T35596I Missense 360/363 - 2
2-179393694-T-A c.106784A>T p.K35595I Missense 360/363 - 1
2-179393791-G-A c.106687C>T p.L35563F Missense 360/363 - 1
2-179393794-C-A c.106684G>T p.A35562S Missense 360/363 - 1
2-179393803-C-G c.106675G>C p.E35559Q Missense 360/363 - 1
2-179393830-T-C c.106648A>G p.I35550V Missense 360/363 - 1
2-179393840-C-T c.106638G>A p.R35546= Synonymous 360/363 - 1
2-179393841-C-T c.106637G>A p.R35546K Missense 360/363 - 1
2-179393859-A-G c.106619T>C p.I35540T Missense 360/363 - 1
2-179393892-G-A c.106586C>T p.T35529I Missense 360/363 - 1
2-179393898-T-A c.106580A>T p.E35527V Missense 360/363 - 1
2-179393900-A-T c.106578T>A p.S35526= Synonymous 360/363 - 1
2-179393906-CT-C c.106571del p.K35524Rfs*22 Frameshift 360/363 - 2
2-179393940-T-C c.106538A>G p.K35513R Missense 360/363 - 1
2-179394687-C-G c.106531G>C p.A35511P Missense 359/363 - 1
2-179394742-A-G c.106476T>C p.C35492= Synonymous 359/363 - 1
2-179394786-C-A c.106432G>T p.E35478* Nonsense 359/363 - 1
2-179394795-AC-A c.106422del p.F35475Sfs*3 Frameshift 359/363 - 1
2-179394810-TCA-T c.106407_106408del p.E35470Rfs*11 Frameshift 359/363 - 1
2-179394984-C-T c.106358G>A p.W35453* Nonsense 358/363 - 1
2-179394983-C-T c.106359G>A p.W35453* Nonsense 358/363 - 1
2-179395067-C-G c.106275G>C p.G35425= Synonymous 358/363 - 1
2-179395188-T-G c.106154A>C p.K35385T Missense 358/363 - 2
2-179395202-C-CT c.106139dup p.S35381Efs*4 Frameshift 358/363 - 2
2-179395209-G-T c.106133C>A p.A35378D Missense 358/363 - 1
2-179395269-A-T c.106073T>A p.V35358D Missense 358/363 - 1
2-179395322-AC-A c.106019del p.G35340Vfs*65 Frameshift 358/363 - 2
2-179395369-T-C c.105973A>G p.K35325E Missense 358/363 - 1
2-179395416-C-T c.105926G>A p.S35309N Missense 358/363 - 1
2-179395427-ACAGGT-A c.105910_105914del p.T35304Cfs*3 Frameshift 358/363 - 1
2-179395452-G-A c.105890C>T p.S35297F Missense 358/363 - 1
2-179395467-A-G c.105875T>C p.L35292P Missense 358/363 - 1
2-179395471-A-G c.105871T>C p.F35291L Missense 358/363 - 1
2-179395469-G-T c.105873C>A p.F35291L Missense 358/363 - 1
2-179395469-G-C c.105873C>G p.F35291L Missense 358/363 - 1
2-179395510-G-A c.105832C>T p.Q35278* Nonsense 358/363 - 5
2-179395554-G-A c.105788C>T p.A35263V Missense 358/363 - 1
2-179395555-C-A c.105787G>T p.A35263S Missense 358/363 - 1
2-179395560-G-A c.105782C>T p.P35261L Missense 358/363 - 2
2-179395570-G-C c.105772C>G p.P35258A Missense 358/363 - 1
2-179395573-C-T c.105769G>A p.E35257K Missense 358/363 - 1
2-179395588-G-A c.105754C>T p.R35252* Nonsense 358/363 - 1
2-179395651-G-T c.105691C>A p.P35231T Missense 358/363 - 1
2-179395717-T-G c.105625A>C p.K35209Q Missense 358/363 - 1
2-179395752-C-T c.105590G>A p.G35197D Missense 358/363 - 1
2-179395760-G-A c.105582C>T p.S35194= Synonymous 358/363 - 1
2-179395780-T-G c.105562A>C p.I35188L Missense 358/363 - 1
2-179395791-G-C c.105551C>G p.S35184* Nonsense 358/363 - 1
2-179395808-G-A c.105534C>T p.T35178= Synonymous 358/363 - 1
2-179395806-GTGGTCACT-G c.105528_105535del p.Q35176Hfs*9 Frameshift 358/363 - 2
2-179395813-C-T c.105529G>A p.V35177M Missense 358/363 - 1
2-179395816-G-A c.105526C>T p.Q35176* Nonsense 358/363 - 1
2-179395836-A-T c.105506T>A p.L35169Q Missense 358/363 - 1
2-179395874-C-T c.105468G>A p.P35156= Synonymous 358/363 - 1
2-179395885-C-T c.105457G>A p.D35153N Missense 358/363 - 1
2-179395889-G-A c.105453C>T p.D35151= Synonymous 358/363 - 1
2-179395936-G-A c.105406C>T p.R35136W Missense 358/363 - 1
2-179395942-T-A c.105400A>T p.K35134* Nonsense 358/363 - 1
2-179395951-T-C c.105391A>G p.I35131V Missense 358/363 - 1
2-179395958-T-C c.105384A>G p.A35128= Synonymous 358/363 - 1
2-179395959-G-C c.105383C>G p.A35128G Missense 358/363 - 1
2-179395959-G-A c.105383C>T p.A35128V Missense 358/363 - 1
2-179395978-T-A c.105364A>T p.K35122* Nonsense 358/363 - 1
2-179395983-G-A c.105359C>T p.T35120I Missense 358/363 - 1
2-179396027-T-G c.105315A>C p.K35105N Missense 358/363 - 1
2-179396027-T-A c.105315A>T p.K35105N Missense 358/363 - 1
2-179396114-C-T c.105228G>A p.S35076= Synonymous 358/363 - 1
2-179396140-T-A c.105202A>T p.K35068* Nonsense 358/363 - 1
2-179396160-G-A c.105182C>T p.A35061V Missense 358/363 - 1
2-179396162-C-G c.105180G>C p.E35060D Missense 358/363 - 1
2-179396206-C-T c.105136G>A p.E35046K Missense 358/363 - 1
2-179396306-G-T c.105036C>A p.Y35012* Nonsense 358/363 - 1
2-179396354-G-A c.104988C>T p.V34996= Synonymous 358/363 - 1
2-179396361-C-T c.104981G>A p.S34994N Missense 358/363 - 1
2-179396371-T-C c.104971A>G p.T34991A Missense 358/363 - 1
2-179396418-C-G c.104924G>C p.W34975S Missense 358/363 - 1
2-179396420-T-C c.104922A>G p.K34974= Synonymous 358/363 - 1
2-179396431-C-G c.104911G>C p.A34971P Missense 358/363 - 1
2-179396457-A-C c.104885T>G p.I34962S Missense 358/363 - 1
2-179396464-G-A c.104878C>T p.R34960C Missense 358/363 - 1
2-179396474-GC-G c.104867del p.G34956Afs*8 Frameshift 358/363 - 1
2-179396493-G-A c.104849C>T p.S34950L Missense 358/363 - 1
2-179396569-C-T c.104773G>A p.E34925K Missense 358/363 - 1
2-179396573-T-G c.104769A>C p.T34923= Synonymous 358/363 - 1
2-179396593-C-A c.104749G>T p.A34917S Missense 358/363 - 1
2-179396645-A-G c.104697T>C p.F34899= Synonymous 358/363 - 1
2-179396691-GGGCGA-G c.104646_104650del p.R34883Tfs*8 Frameshift 358/363 - 1
2-179396734-C-T c.104608G>A p.D34870N Missense 358/363 - 1
2-179396767-G-A c.104575C>T p.R34859W Missense 358/363 - 1
2-179396782-C-G c.104560G>C p.V34854L Missense 358/363 - 1
2-179396816-G-A c.104526C>T p.S34842= Synonymous 358/363 - 1
2-179396818-A-G c.104524T>C p.S34842P Missense 358/363 - 1
2-179396818-GA-G c.104524del p.S34842Pfs*9 Frameshift 358/363 - 1
2-179396832-CAG-C c.104509_104510del p.L34837Efs*12 Frameshift 358/363 - 1
2-179396877-G-A c.104465C>T p.S34822L Missense 358/363 - 1
2-179396885-G-A c.104457C>T p.Y34819= Synonymous 358/363 - 1
2-179396917-C-T c.104425G>A p.V34809M Missense 358/363 - 1
2-179396916-ACTTCT-A c.104421_104425del p.R34807Sfs*8 Frameshift 358/363 - 1
2-179396928-C-A c.104414G>T p.R34805L Missense 358/363 - 1
2-179396965-T-G c.104377A>C p.M34793L Missense 358/363 - 1
2-179396974-G-A c.104368C>T p.L34790F Missense 358/363 - 1
2-179396977-C-T c.104365G>A p.E34789K Missense 358/363 - 1
2-179396995-G-A c.104347C>T p.L34783F Missense 358/363 - 1
2-179397018-C-A c.104324G>T p.R34775L Missense 358/363 - 1
2-179397034-C-T c.104308G>A p.D34770N Missense 358/363 - 1
2-179397037-C-T c.104305G>A p.E34769K Missense 358/363 - 1
2-179397091-C-G c.104251G>C p.A34751P Missense 358/363 - 1
2-179397126-G-A c.104216C>T p.A34739V Missense 358/363 - 1
2-179397217-G-A c.104125C>T p.R34709C Missense 358/363 - 2
2-179397232-C-CA c.104109dup p.E34704* Nonsense 358/363 - 1
2-179397259-G-C c.104083C>G p.P34695A Missense 358/363 - 1
2-179397264-G-A c.104078C>T p.A34693V Missense 358/363 - 1
2-179397315-G-C c.104027C>G p.T34676R Missense 358/363 - 1
2-179397384-C-A c.103958G>T p.R34653L Missense 358/363 - 1
2-179397415-C-T c.103927G>A p.D34643N Missense 358/363 - 1
2-179397432-C-T c.103910G>A p.R34637Q Missense 358/363 - 1
2-179397443-TCTCA-T c.103895_103898del p.V34632Dfs*39 Frameshift 358/363 - 1
2-179397538-G-A c.103804C>T p.Q34602* Nonsense 358/363 - 1
2-179397561-C-T c.103781G>A p.R34594H Missense 358/363 - 5
2-179397655-C-G c.103687G>C p.V34563L Missense 358/363 - 1
2-179397655-C-A c.103687G>T p.V34563L Missense 358/363 - 1
2-179397751-T-C c.103591A>G p.K34531E Missense 358/363 - 1
2-179397802-C-T c.103540G>A p.V34514I Missense 358/363 - 1
2-179397858-A-G c.103484T>C p.L34495P Missense 358/363 - 1
2-179397908-G-T c.103434C>A p.D34478E Missense 358/363 - 1
2-179397950-C-G c.103392G>C p.K34464N Missense 358/363 - 1
2-179397978-C-T c.103364G>A p.R34455H Missense 358/363 - 1
2-179397979-G-A c.103363C>T p.R34455C Missense 358/363 - 1
2-179397981-TC-T c.103360del p.E34454Nfs*3 Frameshift 358/363 - 2
2-179397991-G-C c.103351C>G p.L34451V Missense 358/363 - 1
2-179398040-A-G c.103302T>C p.Y34434= Synonymous 358/363 - 1
2-179398110-A-T c.103232T>A p.I34411N Missense 358/363 - 1
2-179398195-C-G c.103147G>C p.E34383Q Missense 358/363 - 1
2-179398266-C-T c.103076G>A p.S34359N Missense 358/363 - 1
2-179398268-A-C c.103074T>G p.D34358E Missense 358/363 - 1
2-179398276-G-T c.103066C>A p.P34356T Missense 358/363 - 1
2-179398282-G-A c.103060C>T p.P34354S Missense 358/363 - 1
2-179398347-G-A c.102995C>T p.T34332I Missense 358/363 - 1
2-179398351-A-G c.102991T>C p.Y34331H Missense 358/363 - 1
2-179398465-T-C c.102877A>G p.K34293E Missense 358/363 - 3
2-179398502-AG-CA c.102839_102840delinsTG p.T34280M Missense 358/363 - 1
2-179398509-C-A c.102833G>T p.G34278V Missense 358/363 - 4
2-179398523-T-G c.102819A>C p.E34273D Missense 358/363 - 1
2-179398523-T-A c.102819A>T p.E34273D Missense 358/363 - 1
2-179398541-CTTA-C c.102798_102800del p.N34266del InFrameDeletion 358/363 - 1
2-179398585-G-C c.102757C>G p.L34253V Missense 358/363 - 1
2-179398605-C-T c.102737G>A p.R34246H Missense 358/363 - 1
2-179398629-C-T c.102713G>A p.R34238H Missense 358/363 - 1
2-179398630-G-A c.102712C>T p.R34238C Missense 358/363 - 1
2-179398671-A-T c.102671T>A p.L34224Q Missense 358/363 - 1
2-179398747-T-C c.102595A>G p.I34199V Missense 358/363 - 2
2-179398781-G-T c.102561C>A p.Y34187* Nonsense 358/363 - 1
2-179398819-G-A c.102523C>T p.R34175* Nonsense 358/363 - 4
2-179398823-G-A c.102519C>T p.G34173= Synonymous 358/363 - 1
2-179398824-C-T c.102518G>A p.G34173D Missense 358/363 - 1
2-179398921-GC-G c.102420del p.Q34141Rfs*2 Frameshift 358/363 - 1
2-179398990-G-A c.102352C>T p.R34118* Nonsense 358/363 - 1
2-179399067-C-T c.102275G>A p.R34092H Missense 358/363 - 1
2-179399071-G-A c.102271C>T p.R34091W Missense 358/363 - 2
2-179399097-G-T c.102245C>A p.T34082N Missense 358/363 - 1
2-179399110-C-T c.102232G>A p.E34078K Missense 358/363 - 1
2-179399125-A-T c.102217T>A p.L34073M Missense 358/363 - 1
2-179399128-A-T c.102214T>A p.W34072R Missense 358/363 - 5
2-179399128-A-G c.102214T>C p.W34072R Missense 358/363 - 7
2-179399148-G-A c.102194C>T p.S34065L Missense 358/363 - 1
2-179399187-C-T c.102155G>A p.R34052Q Missense 358/363 - 1
2-179399221-C-T c.102121G>A p.E34041K Missense 358/363 - 1
2-179399226-A-G c.102116T>C p.F34039S Missense 358/363 - 1
2-179399239-C-T c.102103G>A p.D34035N Missense 358/363 - 1
2-179399254-C-T c.102088G>A p.A34030T Missense 358/363 - 1
2-179399282-G-A c.102060C>T p.N34020= Synonymous 358/363 - 1
2-179399282-GT-G c.102059del p.N34020Tfs*9 Frameshift 358/363 - 3
2-179399285-TA-T c.102057del p.N34020Tfs*9 Frameshift 358/363 - 1
2-179399346-C-T c.101996G>A p.W33999* Nonsense 358/363 - 1
2-179399351-G-C c.101991C>G p.D33997E Missense 358/363 - 1
2-179399351-G-T c.101991C>A p.D33997E Missense 358/363 - 1
2-179399399-G-T c.101943C>A p.Y33981* Nonsense 358/363 - 1
2-179399416-A-G c.101926T>C p.F33976L Missense 358/363 - 1
2-179399451-C-T c.101891G>A p.R33964H Missense 358/363 - 2
2-179399515-C-A c.101827G>T p.E33943* Nonsense 358/363 - 1
2-179399539-T-C c.101803A>G p.I33935V Missense 358/363 - 1
2-179399559-T-C c.101783A>G p.Q33928R Missense 358/363 - 1
2-179399576-C-G c.101766G>C p.Q33922H Missense 358/363 - 1
2-179399579-G-A c.101763C>T p.H33921= Synonymous 358/363 - 1
2-179399634-C-A c.101708G>T p.R33903L Missense 358/363 - 1
2-179399673-A-G c.101669T>C p.M33890T Missense 358/363 - 1
2-179399677-C-T c.101665G>A p.V33889I Missense 358/363 - 1
2-179399685-T-A c.101657A>T p.E33886V Missense 358/363 - 1
2-179399813-C-G c.101529G>C p.K33843N Missense 358/363 - 1
2-179399863-G-A c.101479C>T p.R33827C Missense 358/363 - 1
2-179399936-G-C c.101406C>G p.V33802= Synonymous 358/363 - 1
2-179399963-A-C c.101379T>G p.D33793E Missense 358/363 - 1
2-179399963-A-T c.101379T>A p.D33793E Missense 358/363 - 1
2-179400019-C-T c.101323G>A p.E33775K Missense 358/363 - 1
2-179400051-G-T c.101291C>A p.A33764D Missense 358/363 - 1
2-179400061-G-A c.101281C>T p.R33761W Missense 358/363 - 2
2-179400130-G-A c.101212C>T p.R33738C Missense 358/363 - 2
2-179400225-A-G c.101117T>C p.V33706A Missense 358/363 - 1
2-179400228-AG-A c.101114del p.S33705Lfs*4 Frameshift 358/363 - 1
2-179400228-GA-G c.101113del p.S33705Lfs*4 Frameshift 358/363 - 1
2-179400235-G-A c.101107C>T p.R33703* Nonsense 358/363 - 1
2-179400243-T-TA c.101098_101099insT p.D33700Vfs*13 Frameshift 358/363 - 1
2-179400244-C-CA c.101097dup p.D33700* Nonsense 358/363 - 1
2-179400305-C-T c.101037G>A p.Q33679= Synonymous 358/363 - 1
2-179400340-CAT-C c.101000_101001del p.Y33667Cfs*5 Frameshift 358/363 - 1
2-179400517-G-A c.100825C>T p.R33609* Nonsense 358/363 - 2
2-179400537-A-G c.100805T>C p.M33602T Missense 358/363 - 1
2-179400574-G-T c.100768C>A p.P33590T Missense 358/363 - 1
2-179400718-C-G c.100756G>C p.E33586Q Missense 357/363 - 1
2-179400770-G-T c.100704C>A p.Y33568* Nonsense 357/363 - 1
2-179400871-C-T c.100603G>A p.E33535K Missense 357/363 - 1
2-179400887-C-T c.100587G>A p.W33529* Nonsense 357/363 - 2
2-179400888-C-T c.100586G>A p.W33529* Nonsense 357/363 - 1
2-179400889-A-G c.100585T>C p.W33529R Missense 357/363 - 1
2-179400895-C-T c.100579G>A p.V33527I Missense 357/363 - 2
2-179400898-T-TC c.100575_100576insG p.I33526Dfs*19 Frameshift 357/363 - 1
2-179400956-A-G c.100518T>C p.N33506= Synonymous 357/363 - 1
2-179400994-G-C c.100480C>G p.Q33494E Missense 357/363 - 1
2-179401015-G-A c.100459C>T p.P33487S Missense 357/363 - 1
2-179401025-T-G c.100449A>C p.E33483D Missense 357/363 - 1
2-179401027-C-G c.100447G>C p.E33483Q Missense 357/363 - 1
2-179401042-A-C c.100432T>G p.W33478G Missense 357/363 - 1
2-179401064-T-G c.100410A>C p.E33470D Missense 357/363 - 1
2-179401064-T-A c.100410A>T p.E33470D Missense 357/363 - 1
2-179401066-C-G c.100408G>C p.E33470Q Missense 357/363 - 1
2-179401074-A-C c.100400T>G p.V33467G Missense 357/363 - 1
2-179401090-C-T c.100384G>A p.E33462K Missense 357/363 - 1
2-179401152-G-A c.100322C>T p.S33441F Missense 357/363 - 1
2-179401180-G-T c.100294C>A p.R33432S Missense 357/363 - 1
2-179401288-G-A c.100186C>T p.P33396S Missense 357/363 - 1
2-179401298-C-G c.100176G>C p.K33392N Missense 357/363 - 1
2-179401298-C-A c.100176G>T p.K33392N Missense 357/363 - 1
2-179401740-C-T c.100096G>A p.V33366I Missense 356/363 - 1
2-179401742-C-T c.100094G>A p.R33365Q Missense 356/363 - 1
2-179401750-AATAGCCAGCAT-A c.100076_100086del p.N33359Ifs*14 Frameshift 356/363 - 1
2-179401777-A-T c.100059T>A p.I33353= Synonymous 356/363 - 1
2-179401788-T-C c.100048A>G p.T33350A Missense 356/363 - 1
2-179401845-A-G c.99991T>C p.C33331R Missense 356/363 - 1
2-179401858-A-T c.99978T>A p.Y33326* Nonsense 356/363 - 1
2-179401858-A-C c.99978T>G p.Y33326* Nonsense 356/363 - 1
2-179401881-C-T c.99955G>A p.G33319R Missense 356/363 - 1
2-179401896-G-A c.99940C>T p.P33314S Missense 356/363 - 1
2-179401900-C-T c.99936G>A p.W33312* Nonsense 356/363 - 1
2-179401914-C-T c.99922G>A p.A33308T Missense 356/363 - 1
2-179402152-C-G c.99782G>C p.R33261P Missense 355/363 - 1
2-179402155-T-A c.99779A>T p.Q33260L Missense 355/363 - 1
2-179402438-C-T c.99496G>A p.E33166K Missense 355/363 - 1
2-179402473-C-T c.99461G>A p.R33154H Missense 355/363 - 1
2-179402504-T-G c.99430A>C p.S33144R Missense 355/363 - 1
2-179402613-C-G c.99321G>C p.M33107I Missense 355/363 - 1
2-179402613-C-T c.99321G>A p.M33107I Missense 355/363 - 1
2-179402613-C-A c.99321G>T p.M33107I Missense 355/363 - 1
2-179402624-G-A c.99310C>T p.R33104C Missense 355/363 - 2
2-179403401-C-T c.99155G>A p.R33052H Missense 354/363 - 1
2-179403402-G-A c.99154C>T p.R33052C Missense 354/363 - 1
2-179403477-C-A c.99079G>T p.G33027C Missense 354/363 - 1
2-179403482-T-A c.99074A>T p.D33025V Missense 354/363 - 1
2-179403561-GT-G c.98994del p.K32998Nfs*63 Frameshift 354/363 - 1
2-179403691-C-G c.98971G>C p.V32991L Missense 353/363 - 1
2-179403750-C-T c.98912G>A p.R32971H Missense 353/363 - 2
2-179403781-C-T c.98881G>A p.G32961R Missense 353/363 - 1
2-179403781-C-G c.98881G>C p.G32961R Missense 353/363 - 1
2-179403791-G-T c.98871C>A p.Y32957* Nonsense 353/363 - 1
2-179403795-ATTG-A c.98864_98866del p.T32955del InFrameDeletion 353/363 - 1
2-179403855-C-T c.98807G>A p.R32936H Missense 353/363 - 2
2-179403904-G-A c.98758C>T p.R32920W Missense 353/363 - 1
2-179403946-C-T c.98716G>A p.V32906I Missense 353/363 - 1
2-179403949-C-T c.98713G>A p.E32905K Missense 353/363 - 1
2-179404133-G-T c.98659C>A p.P32887T Missense 352/363 - 1
2-179404141-G-GA c.98650dup p.S32884Ffs*2 Frameshift 352/363 - 1
2-179404175-C-T c.98617G>A p.E32873K Missense 352/363 - 1
2-179404188-GA-G c.98603del p.F32868Sfs*11 Frameshift 352/363 - 1
2-179404197-T-C c.98595A>G p.E32865= Synonymous 352/363 - 1
2-179404240-C-T c.98552G>A p.R32851Q Missense 352/363 - 1
2-179404277-G-T c.98515C>A p.P32839T Missense 352/363 - 1
2-179404293-G-A c.98499C>T p.L32833= Synonymous 352/363 - 1
2-179404323-A-G c.98469T>C p.D32823= Synonymous 352/363 - 1
2-179404327-T-C c.98465A>G p.D32822G Missense 352/363 - 1
2-179404334-G-C c.98458C>G p.P32820A Missense 352/363 - 1
2-179404336-G-C c.98456C>G p.P32819R Missense 352/363 - 1
2-179404339-C-T c.98453G>A p.R32818K Missense 352/363 - 1
2-179404350-CCT-ATG c.98440_98442delinsCAT p.R32814H Missense 352/363 - 1
2-179404399-C-G c.98393G>C p.S32798T Missense 352/363 - 1
2-179404402-T-C c.98390A>G p.N32797S Missense 352/363 - 2
2-179404423-A-T c.98369T>A p.V32790D Missense 352/363 - 1
2-179404446-G-A c.98346C>T p.G32782= Synonymous 352/363 - 1
2-179404447-C-A c.98345G>T p.G32782V Missense 352/363 - 1
2-179404451-A-G c.98341T>C p.C32781R Missense 352/363 - 1
2-179404469-G-C c.98323C>G p.L32775V Missense 352/363 - 1
2-179404487-C-T c.98305G>A p.D32769N Missense 352/363 - 1
2-179404492-CCT-C c.98299_98300del p.R32767Gfs*2 Frameshift 352/363 - 2
2-179404493-CT-C c.98299del p.R32767Gfs*26 Frameshift 352/363 - 1
2-179404498-G-C c.98294C>G p.A32765G Missense 352/363 - 3
2-179404525-G-A c.98267C>T p.T32756I Missense 352/363 - 1
2-179404529-C-G c.98263G>C p.E32755Q Missense 352/363 - 1
2-179404550-G-A c.98242C>T p.R32748C Missense 352/363 - 2
2-179404571-C-G c.98221G>C p.E32741Q Missense 352/363 - 1
2-179404621-A-G c.98171T>C p.L32724P Missense 352/363 - 1
2-179404628-T-A c.98164A>T p.I32722F Missense 352/363 - 3
2-179404631-C-T c.98161G>A p.V32721I Missense 352/363 - 1
2-179404686-AG-A c.98105del p.P32702Lfs*15 Frameshift 352/363 - 1
2-179404825-G-C c.98068C>G p.P32690A Missense 351/363 - 1
2-179404852-C-CATTG c.98040_98041insCAAT p.G32681Qfs*6 Frameshift 351/363 - 1
2-179404872-C-T c.98021G>A p.R32674H Missense 351/363 - 1
2-179404939-T-C c.97954A>G p.T32652A Missense 351/363 - 1
2-179404975-G-A c.97918C>T p.Q32640* Nonsense 351/363 - 1
2-179405094-G-A c.97799C>T p.P32600L Missense 351/363 - 1
2-179406024-C-T c.97780G>A p.A32594T Missense 350/363 - 1
2-179406035-T-C c.97769A>G p.K32590R Missense 350/363 - 1
2-179406044-C-G c.97760G>C p.R32587P Missense 350/363 - 1
2-179406044-C-T c.97760G>A p.R32587H Missense 350/363 - 2
2-179406087-G-A c.97717C>T p.R32573C Missense 350/363 - 1
2-179406131-C-T c.97673G>A p.R32558Q Missense 350/363 - 1
2-179406161-C-T c.97643G>A p.R32548H Missense 350/363 - 1
2-179406179-C-G c.97625G>C p.R32542T Missense 350/363 - 1
2-179406191-C-T c.97613G>A p.R32538H Missense 350/363 - 4
2-179406192-G-A c.97612C>T p.R32538C Missense 350/363 - 1
2-179406200-A-G c.97604T>C p.I32535T Missense 350/363 - 1
2-179406230-ATCCTCTGGTGGGTACCAAGTAAGTGTCAT-A c.97546_97574del p.M32516* Frameshift 350/363 - 1
2-179406267-G-T c.97537C>A p.R32513S Missense 350/363 - 1
2-179406311-C-T c.97493G>A p.R32498H Missense 350/363 - 1
2-179406990-C-G c.97492+1G>C - IntronicSNV - 349/362 1
2-179406991-G-A c.97492C>T p.R32498C Missense 349/363 - 1
2-179406993-A-G c.97490T>C p.I32497T Missense 349/363 - 1
2-179407011-A-G c.97472T>C p.I32491T Missense 349/363 - 1
2-179407055-T-TG c.97427dup p.T32477Nfs*13 Frameshift 349/363 - 1
2-179407097-G-A c.97386C>T p.T32462= Synonymous 349/363 - 1
2-179407112-G-C c.97371C>G p.S32457= Synonymous 349/363 - 1
2-179407159-C-T c.97324G>A p.A32442T Missense 349/363 - 1
2-179407164-C-A c.97319G>T p.R32440L Missense 349/363 - 1
2-179407189-G-T c.97294C>A p.L32432M Missense 349/363 - 1
2-179407194-G-T c.97289C>A p.A32430D Missense 349/363 - 1
2-179407269-C-T c.97214G>A p.G32405E Missense 349/363 - 1
2-179407388-C-T c.97192+1G>A - IntronicSNV - 348/362 1
2-179407387-AC-A c.97192+1del - IntronicDeletion 348/363 - 1
2-179407400-A-C c.97181T>G p.V32394G Missense 348/363 - 1
2-179407435-C-G c.97146G>C p.K32382N Missense 348/363 - 1
2-179407435-C-A c.97146G>T p.K32382N Missense 348/363 - 1
2-179407472-G-T c.97109C>A p.T32370N Missense 348/363 - 1
2-179407482-G-A c.97099C>T p.R32367C Missense 348/363 - 2
2-179407497-C-A c.97084G>T p.A32362S Missense 348/363 - 1
2-179407526-C-T c.97055G>A p.R32352H Missense 348/363 - 2
2-179407567-AAG-A c.97013_97014del p.A32338Vfs*8 Frameshift 348/363 - 1
2-179407608-C-A c.96973G>T p.E32325* Nonsense 348/363 - 1
2-179407637-G-A c.96944C>T p.T32315I Missense 348/363 - 1
2-179407655-G-C c.96926C>G p.S32309C Missense 348/363 - 1
2-179407663-G-A c.96918C>T p.I32306= Synonymous 348/363 - 1
2-179407817-C-A c.96883G>T p.V32295L Missense 347/363 - 1
2-179407865-C-T c.96835G>A p.A32279T Missense 347/363 - 1
2-179407944-A-G c.96756T>C p.V32252= Synonymous 347/363 - 1
2-179407976-A-G c.96724T>C p.C32242R Missense 347/363 - 1
2-179408003-G-A c.96697C>T p.R32233* Nonsense 347/363 - 3
2-179408045-C-T c.96655G>A p.V32219I Missense 347/363 - 1
2-179408087-C-T c.96613G>A p.V32205M Missense 347/363 - 1
2-179408096-C-A c.96604G>T p.V32202L Missense 347/363 - 1
2-179408105-C-T c.96595G>A p.V32199I Missense 347/363 - 1
2-179408156-C-T c.96544G>A p.E32182K Missense 347/363 - 1
2-179408179-A-G c.96521T>C p.M32174T Missense 347/363 - 1
2-179408199-A-G c.96501T>C p.S32167= Synonymous 347/363 - 1
2-179408238-T-C c.96462A>G p.T32154= Synonymous 347/363 - 1
2-179408251-C-G c.96449G>C p.R32150T Missense 347/363 - 1
2-179408273-C-A c.96427G>T p.E32143* Nonsense 347/363 - 1
2-179408380-C-T c.96320G>A p.G32107D Missense 347/363 - 1
2-179408641-C-T c.96230G>A p.R32077Q Missense 346/363 - 2
2-179408682-G-A c.96189C>T p.T32063= Synonymous 346/363 - 1
2-179408695-G-GA c.96175_96176insT p.A32059Vfs*4 Frameshift 346/363 - 1
2-179408713-A-G c.96158T>C p.I32053T Missense 346/363 - 1
2-179408716-C-T c.96155G>A p.G32052D Missense 346/363 - 1
2-179408731-G-A c.96140C>T p.T32047M Missense 346/363 - 1
2-179408752-C-T c.96119G>A p.G32040E Missense 346/363 - 1
2-179408772-G-T c.96099C>A p.R32033= Synonymous 346/363 - 1
2-179408772-G-C c.96099C>G p.R32033= Synonymous 346/363 - 1
2-179408772-G-A c.96099C>T p.R32033= Synonymous 346/363 - 1
2-179408940-C-T c.96016G>A p.V32006M Missense 345/363 - 1
2-179408957-A-G c.95999T>C p.I32000T Missense 345/363 - 1
2-179409211-AGC-CCA c.95743_95745delinsTGG p.A31915W Missense 345/363 - 1
2-179410115-A-G c.95722T>C p.Y31908H Missense 344/363 - 1
2-179410129-C-T c.95708G>A p.C31903Y Missense 344/363 - 2
2-179410151-C-T c.95686G>A p.E31896K Missense 344/363 - 1
2-179410179-CAC-GAT c.95656_95658delinsATC p.V31886I Missense 344/363 - 1
2-179410183-G-GC c.95653dup p.A31885Gfs*7 Frameshift 344/363 - 1
2-179410224-G-A c.95613C>T p.T31871= Synonymous 344/363 - 1
2-179410225-G-C c.95612C>G p.T31871S Missense 344/363 - 1
2-179410226-T-A c.95611A>T p.T31871S Missense 344/363 - 1
2-179410239-G-C c.95598C>G p.T31866= Synonymous 344/363 - 1
2-179410255-T-C c.95582A>G p.Y31861C Missense 344/363 - 1
2-179410264-T-C c.95573A>G p.N31858S Missense 344/363 - 1
2-179410271-G-C c.95566C>G p.R31856G Missense 344/363 - 1
2-179410282-A-G c.95555T>C p.L31852P Missense 344/363 - 1
2-179410284-G-A c.95553C>T p.S31851= Synonymous 344/363 - 1
2-179410297-C-G c.95540G>C p.R31847P Missense 344/363 - 1
2-179410340-A-T c.95497T>A p.S31833T Missense 344/363 - 1
2-179410354-C-T c.95483G>A p.W31828* Nonsense 344/363 - 1
2-179410353-C-T c.95484G>A p.W31828* Nonsense 344/363 - 1
2-179410394-C-G c.95443G>C p.E31815Q Missense 344/363 - 2
2-179410548-G-T c.95415C>A p.F31805L Missense 343/363 - 1
2-179410553-A-G c.95410T>C p.S31804P Missense 343/363 - 1
2-179410591-C-A c.95372G>T p.G31791V Missense 343/363 - 2
2-179410591-C-T c.95372G>A p.G31791D Missense 343/363 - 3
2-179410592-C-G c.95371G>C p.G31791R Missense 343/363 - 2
2-179410605-G-C c.95358C>G p.N31786K Missense 343/363 - 3
2-179410605-G-T c.95358C>A p.N31786K Missense 343/363 - 1
2-179410612-G-A c.95351C>T p.A31784V Missense 343/363 - 1
2-179410608-TACTGCCCTC-T c.95346_95354del p.R31783_V31785del InFrameDeletion 343/363 - 1
2-179410622-G-A c.95341C>T p.R31781* Nonsense 343/363 - 2
2-179410666-G-A c.95297C>T p.S31766F Missense 343/363 - 2
2-179410693-A-G c.95270T>C p.I31757T Missense 343/363 - 1
2-179410711-C-G c.95252G>C p.S31751T Missense 343/363 - 1
2-179410721-G-A c.95242C>T p.R31748C Missense 343/363 - 1
2-179410758-G-A c.95205C>T p.D31735= Synonymous 343/363 - 1
2-179410768-G-A c.95195C>T p.P31732L Missense 343/363 - 2
2-179410769-G-A c.95194C>T p.P31732S Missense 343/363 - 1
2-179410775-T-C c.95188A>G p.S31730G Missense 343/363 - 1
2-179410776-C-A c.95187G>T p.W31729C Missense 343/363 - 1
2-179410776-C-G c.95187G>C p.W31729C Missense 343/363 - 4
2-179410777-C-A c.95186G>T p.W31729L Missense 343/363 - 3
2-179410778-A-T c.95185T>A p.W31729R Missense 343/363 - 1
2-179410778-A-G c.95185T>C p.W31729R Missense 343/363 - 5
2-179410790-A-G c.95173T>C p.C31725R Missense 343/363 - 1
2-179410811-T-A c.95152A>T p.S31718C Missense 343/363 - 1
2-179410815-G-A c.95148C>T p.T31716= Synonymous 343/363 - 1
2-179410827-A-C c.95136T>G p.C31712W Missense 343/363 - 1
2-179410828-C-T c.95135G>A p.C31712Y Missense 343/363 - 2
2-179410828-C-A c.95135G>T p.C31712F Missense 343/363 - 1
2-179410829-A-G c.95134T>C p.C31712R Missense 343/363 - 12
2-179410834-C-A c.95129G>T p.G31710V Missense 343/363 - 3
2-179410837-G-C c.95126C>G p.P31709R Missense 343/363 - 2
2-179410840-GA-G c.95122del p.S31708Pfs*13 Frameshift 343/363 - 1
2-179410972-GT-G c.95086del p.T31696Pfs*25 Frameshift 342/363 - 1
2-179410975-C-CG c.95082dup p.G31695Rfs*13 Frameshift 342/363 - 1
2-179410980-G-T c.95078C>A p.A31693D Missense 342/363 - 1
2-179411011-T-C c.95047A>G p.S31683G Missense 342/363 - 2
2-179411050-G-A c.95008C>T p.R31670* Nonsense 342/363 - 2
2-179411101-C-CA c.94956_94957insT p.D31653* Nonsense 342/363 - 1
2-179411112-C-T c.94946G>A p.W31649* Nonsense 342/363 - 1
2-179411111-C-T c.94947G>A p.W31649* Nonsense 342/363 - 1
2-179411125-GT-G c.94932del p.E31644Dfs*13 Frameshift 342/363 - 1
2-179411195-G-A c.94863C>T p.H31621= Synonymous 342/363 - 1
2-179411207-A-T c.94851T>A p.D31617E Missense 342/363 - 2
2-179411218-C-T c.94840G>A p.A31614T Missense 342/363 - 1
2-179411339-G-A c.94816C>T p.R31606* Nonsense 341/363 - 1
2-179411345-T-G c.94810A>C p.T31604P Missense 341/363 - 1
2-179411381-C-T c.94774G>A p.V31592I Missense 341/363 - 1
2-179411407-C-T c.94748G>A p.R31583H Missense 341/363 - 1
2-179411408-G-A c.94747C>T p.R31583C Missense 341/363 - 1
2-179411456-T-A c.94699A>T p.N31567Y Missense 341/363 - 1
2-179411517-C-G c.94638G>C p.K31546N Missense 341/363 - 1
2-179411517-C-A c.94638G>T p.K31546N Missense 341/363 - 1
2-179411572-G-T c.94583C>A p.S31528Y Missense 341/363 - 1
2-179411575-CA-C c.94579del p.W31527Gfs*17 Frameshift 341/363 - 1
2-179411597-T-TA c.94557_94558insT p.R31520* Nonsense 341/363 - 1
2-179411596-CT-C c.94558del p.R31520Dfs*6 Frameshift 341/363 - 1
2-179411602-A-G c.94553T>C p.V31518A Missense 341/363 - 1
2-179411788-A-G c.94464T>C p.A31488= Synonymous 340/363 - 1
2-179411846-T-C c.94406A>G p.K31469R Missense 340/363 - 1
2-179411891-A-G c.94361T>C p.L31454P Missense 340/363 - 1
2-179411904-G-A c.94348C>T p.R31450C Missense 340/363 - 1
2-179411958-G-A c.94294C>T p.P31432S Missense 340/363 - 1
2-179411970-G-C c.94282C>G p.R31428G Missense 340/363 - 1
2-179411982-C-T c.94270G>A p.A31424T Missense 340/363 - 1
2-179412013-G-T c.94239C>A p.T31413= Synonymous 340/363 - 1
2-179412018-G-A c.94234C>T p.P31412S Missense 340/363 - 1
2-179412142-T-C c.94211A>G p.H31404R Missense 339/363 - 1
2-179412185-C-G c.94168G>C p.G31390R Missense 339/363 - 1
2-179412221-C-A c.94132G>T p.E31378* Nonsense 339/363 - 1
2-179412259-C-T c.94094G>A p.R31365H Missense 339/363 - 1
2-179412293-T-G c.94060A>C p.T31354P Missense 339/363 - 1
2-179412300-C-T c.94053G>A p.S31351= Synonymous 339/363 - 1
2-179412307-C-T c.94046G>A p.R31349H Missense 339/363 - 1
2-179412338-T-C c.94015A>G p.T31339A Missense 339/363 - 2
2-179412340-C-T c.94013G>A p.G31338D Missense 339/363 - 1
2-179412381-T-C c.93972A>G p.E31324= Synonymous 339/363 - 1
2-179412392-C-T c.93961G>A p.V31321I Missense 339/363 - 1
2-179412452-C-T c.93901G>A p.V31301I Missense 339/363 - 1
2-179412453-G-A c.93900C>T p.S31300= Synonymous 339/363 - 1
2-179412516-C-G c.93837G>C p.M31279I Missense 339/363 - 1
2-179412516-C-T c.93837G>A p.M31279I Missense 339/363 - 1
2-179412516-C-A c.93837G>T p.M31279I Missense 339/363 - 1
2-179412538-G-A c.93815C>T p.T31272I Missense 339/363 - 1
2-179412629-G-A c.93724C>T p.R31242C Missense 339/363 - 1
2-179412797-C-T c.93556G>A p.V31186M Missense 339/363 - 1
2-179412811-T-C c.93542A>G p.E31181G Missense 339/363 - 1
2-179412830-G-A c.93523C>T p.R31175C Missense 339/363 - 1
2-179412884-A-T c.93469T>A p.S31157T Missense 339/363 - 1
2-179412923-G-A c.93430C>T p.R31144W Missense 339/363 - 1
2-179412950-G-A c.93403C>T p.L31135F Missense 339/363 - 1
2-179412957-T-TA c.93395dup p.L31132Ffs*5 Frameshift 339/363 - 1
2-179412966-G-A c.93387C>T p.S31129= Synonymous 339/363 - 1
2-179412973-T-C c.93380A>G p.K31127R Missense 339/363 - 1
2-179412977-CT-C c.93376del p.S31126Afs*7 Frameshift 339/363 - 1
2-179413037-C-G c.93316G>C p.E31106Q Missense 339/363 - 1
2-179413055-C-G c.93298G>C p.E31100Q Missense 339/363 - 1
2-179413079-C-G c.93274G>C p.A31092P Missense 339/363 - 1
2-179413100-G-A c.93253C>T p.P31085S Missense 339/363 - 1
2-179413110-G-A c.93243C>T p.A31081= Synonymous 339/363 - 1
2-179413112-C-T c.93241G>A p.A31081T Missense 339/363 - 1
2-179413138-C-T c.93215G>A p.R31072H Missense 339/363 - 1
2-179413187-G-A c.93166C>T p.R31056* Nonsense 339/363 - 1
2-179413230-A-T c.93123T>A p.L31041= Synonymous 339/363 - 1
2-179413230-A-G c.93123T>C p.L31041= Synonymous 339/363 - 1
2-179413230-A-C c.93123T>G p.L31041= Synonymous 339/363 - 1
2-179413303-G-A c.93050C>T p.P31017L Missense 339/363 - 1
2-179413305-A-T c.93048T>A p.T31016= Synonymous 339/363 - 1
2-179413305-A-G c.93048T>C p.T31016= Synonymous 339/363 - 1
2-179413305-A-C c.93048T>G p.T31016= Synonymous 339/363 - 1
2-179413330-G-A c.93023C>T p.T31008I Missense 339/363 - 1
2-179413337-A-T c.93016T>A p.S31006T Missense 339/363 - 1
2-179413423-G-A c.92930C>T p.S30977F Missense 339/363 - 1
2-179413448-G-A c.92905C>T p.R30969W Missense 339/363 - 1
2-179413452-G-A c.92901C>T p.S30967= Synonymous 339/363 - 1
2-179413480-A-AC c.92872dup p.V30958Gfs*8 Frameshift 339/363 - 1
2-179413498-C-T c.92855G>A p.R30952K Missense 339/363 - 1
2-179413514-T-C c.92839A>G p.I30947V Missense 339/363 - 1
2-179413540-C-CT c.92812dup p.R30938Kfs*15 Frameshift 339/363 - 1
2-179413557-T-G c.92796A>C p.K30932N Missense 339/363 - 1
2-179413557-T-A c.92796A>T p.K30932N Missense 339/363 - 1
2-179413573-A-T c.92780T>A p.I30927K Missense 339/363 - 1
2-179413573-A-G c.92780T>C p.I30927T Missense 339/363 - 1
2-179413616-T-C c.92737A>G p.T30913A Missense 339/363 - 1
2-179413625-C-T c.92728G>A p.V30910M Missense 339/363 - 1
2-179413638-G-A c.92715C>T p.G30905= Synonymous 339/363 - 1
2-179413642-T-C c.92711A>G p.K30904R Missense 339/363 - 1
2-179413654-T-C c.92699A>G p.N30900S Missense 339/363 - 1
2-179413694-G-A c.92659C>T p.Q30887* Nonsense 339/363 - 1
2-179413740-C-T c.92613G>A p.V30871= Synonymous 339/363 - 1
2-179413740-C-G c.92613G>C p.V30871= Synonymous 339/363 - 1
2-179413740-C-A c.92613G>T p.V30871= Synonymous 339/363 - 1
2-179413763-C-T c.92590G>A p.D30864N Missense 339/363 - 1
2-179413800-C-G c.92553G>C p.M30851I Missense 339/363 - 1
2-179413800-C-T c.92553G>A p.M30851I Missense 339/363 - 1
2-179413800-C-A c.92553G>T p.M30851I Missense 339/363 - 1
2-179413801-A-C c.92552T>G p.M30851R Missense 339/363 - 1
2-179413816-A-G c.92537T>C p.V30846A Missense 339/363 - 1
2-179413847-T-G c.92506A>C p.T30836P Missense 339/363 - 1
2-179413849-T-C c.92504A>G p.K30835R Missense 339/363 - 1
2-179413855-G-A c.92498C>T p.T30833I Missense 339/363 - 1
2-179413865-C-T c.92488G>A p.V30830I Missense 339/363 - 1
2-179413874-C-CT c.92478dup p.V30827Sfs*22 Frameshift 339/363 - 1
2-179413879-G-A c.92474C>T p.P30825L Missense 339/363 - 1
2-179413902-C-A c.92451G>T p.E30817D Missense 339/363 - 1
2-179414020-G-C c.92333C>G p.T30778R Missense 339/363 - 1
2-179414036-G-A c.92317C>T p.R30773* Nonsense 339/363 - 1
2-179414042-T-C c.92311A>G p.S30771G Missense 339/363 - 1
2-179414048-AC-A c.92305del p.V30769* Frameshift 339/363 - 1
2-179414065-CTT-C c.92286_92287del p.S30763Hfs*14 Frameshift 339/363 - 1
2-179414086-A-G c.92267T>C p.L30756P Missense 339/363 - 1
2-179414099-G-A c.92254C>T p.Q30752* Nonsense 339/363 - 1
2-179414146-ATGCTGT-A c.92201_92206del p.N30734_S30735del InFrameDeletion 339/363 - 1
2-179414152-T-TG c.92200_92201insC p.N30734Tfs*17 Frameshift 339/363 - 1
2-179414162-T-C c.92191A>G p.I30731V Missense 339/363 - 3
2-179414177-G-A c.92176C>T p.P30726S Missense 339/363 - 1
2-179414183-C-A c.92170G>T p.G30724C Missense 339/363 - 1
2-179414186-G-A c.92167C>T p.P30723S Missense 339/363 - 1
2-179414200-AG-A c.92153del p.T30718Mfs*14 Frameshift 339/363 - 1
2-179414318-C-T c.92131G>A p.V30711M Missense 338/363 - 2
2-179414321-G-GA c.92127dup p.P30710Sfs*12 Frameshift 338/363 - 1
2-179414366-A-G c.92083T>C p.S30695P Missense 338/363 - 1
2-179414390-C-T c.92059G>A p.G30687S Missense 338/363 - 1
2-179414450-A-T c.91999T>A p.W30667R Missense 338/363 - 1
2-179414455-A-G c.91994T>C p.L30665P Missense 338/363 - 1
2-179414512-T-C c.91937A>G p.N30646S Missense 338/363 - 1
2-179414529-C-T c.91920G>A p.W30640* Nonsense 338/363 - 1
2-179414529-CCA-C c.91918_91919del p.W30640Vfs*7 Frameshift 338/363 - 1
2-179414546-C-T c.91903G>A p.E30635K Missense 338/363 - 1
2-179414555-T-C c.91894A>G p.I30632V Missense 338/363 - 1
2-179414564-A-G c.91885T>C p.F30629L Missense 338/363 - 1
2-179414570-T-C c.91879A>G p.I30627V Missense 338/363 - 1
2-179414581-A-G c.91868T>C p.V30623A Missense 338/363 - 1
2-179414712-C-T c.91852+1G>A - IntronicSNV - 337/362 1
2-179414800-C-T c.91765G>A p.A30589T Missense 337/363 - 2
2-179414844-T-A c.91721A>T p.E30574V Missense 337/363 - 1
2-179414875-C-T c.91690G>A p.G30564R Missense 337/363 - 1
2-179414896-G-A c.91669C>T p.R30557* Nonsense 337/363 - 1
2-179414904-G-T c.91661C>A p.P30554Q Missense 337/363 - 1
2-179414914-G-A c.91651C>T p.Q30551* Nonsense 337/363 - 1
2-179414955-A-T c.91610T>A p.I30537N Missense 337/363 - 1
2-179414964-T-A c.91601A>T p.D30534V Missense 337/363 - 1
2-179414976-G-A c.91589C>T p.P30530L Missense 337/363 - 1
2-179414992-T-C c.91573A>G p.I30525V Missense 337/363 - 1
2-179414995-G-C c.91570C>G p.P30524A Missense 337/363 - 1
2-179415738-G-T c.91520C>A p.P30507Q Missense 336/363 - 1
2-179415775-T-C c.91483A>G p.R30495G Missense 336/363 - 1
2-179415799-T-C c.91459A>G p.S30487G Missense 336/363 - 1
2-179415808-T-C c.91450A>G p.T30484A Missense 336/363 - 1
2-179415814-T-C c.91444A>G p.T30482A Missense 336/363 - 1
2-179415817-A-G c.91441T>C p.Y30481H Missense 336/363 - 1
2-179415819-T-C c.91439A>G p.Q30480R Missense 336/363 - 1
2-179415829-T-C c.91429A>G p.S30477G Missense 336/363 - 1
2-179415848-T-A c.91410A>T p.R30470S Missense 336/363 - 1
2-179415865-T-C c.91393A>G p.N30465D Missense 336/363 - 1
2-179415874-G-A c.91384C>T p.R30462W Missense 336/363 - 1
2-179415881-A-G c.91377T>C p.I30459= Synonymous 336/363 - 1
2-179415887-A-G c.91371T>C p.Y30457= Synonymous 336/363 - 1
2-179415895-C-T c.91363G>A p.V30455M Missense 336/363 - 1
2-179415952-G-A c.91306C>T p.R30436W Missense 336/363 - 2
2-179415958-C-T c.91300G>A p.V30434I Missense 336/363 - 1
2-179415972-G-A c.91286C>T p.P30429L Missense 336/363 - 1
2-179415978-C-A c.91280G>T p.G30427V Missense 336/363 - 1
2-179416407-A-T c.91220T>A p.L30407Q Missense 335/363 - 1
2-179416435-G-A c.91192C>T p.R30398C Missense 335/363 - 1
2-179416513-G-A c.91114C>T p.Q30372* Nonsense 335/363 - 1
2-179416526-ATTTC-A c.91097_91100del p.R30366Ifs*24 Frameshift 335/363 - 1
2-179416554-C-T c.91073G>A p.G30358E Missense 335/363 - 1
2-179416556-A-C c.91071T>G p.T30357= Synonymous 335/363 - 1
2-179416659-C-T c.90968G>A p.R30323K Missense 335/363 - 1
2-179416677-A-G c.90950T>C p.V30317A Missense 335/363 - 1
2-179416712-G-T c.90915C>A p.Y30305* Nonsense 335/363 - 1
2-179416712-G-C c.90915C>G p.Y30305* Nonsense 335/363 - 1
2-179416714-A-G c.90913T>C p.Y30305H Missense 335/363 - 2
2-179416782-GT-G c.90844del p.T30282Rfs*8 Frameshift 335/363 - 1
2-179416801-A-C c.90826T>G p.C30276G Missense 335/363 - 2
2-179416866-C-T c.90761G>A p.G30254E Missense 335/363 - 1
2-179416899-A-G c.90728T>C p.I30243T Missense 335/363 - 1
2-179416939-C-T c.90688G>A p.G30230R Missense 335/363 - 1
2-179416939-C-G c.90688G>C p.G30230R Missense 335/363 - 1
2-179416971-A-T c.90656T>A p.V30219D Missense 335/363 - 1
2-179416987-C-T c.90640G>A p.A30214T Missense 335/363 - 1
2-179416989-A-G c.90638T>C p.I30213T Missense 335/363 - 1
2-179417001-G-A c.90626C>T p.A30209V Missense 335/363 - 1
2-179417033-A-T c.90594T>A p.H30198Q Missense 335/363 - 1
2-179417038-C-T c.90589G>A p.E30197K Missense 335/363 - 1
2-179417091-C-T c.90536G>A p.R30179H Missense 335/363 - 2
2-179417110-T-A c.90517A>T p.K30173* Nonsense 335/363 - 1
2-179417159-C-A c.90468G>T p.K30156N Missense 335/363 - 1
2-179417191-C-A c.90436G>T p.G30146W Missense 335/363 - 1
2-179417206-C-G c.90421G>C p.V30141L Missense 335/363 - 1
2-179417209-G-A c.90418C>T p.Q30140* Nonsense 335/363 - 1
2-179417220-A-G c.90407T>C p.I30136T Missense 335/363 - 1
2-179417226-TG-T c.90401del p.S30134* Frameshift 335/363 - 1
2-179417239-C-T c.90388G>A p.E30130K Missense 335/363 - 1
2-179417404-G-A c.90223C>T p.Q30075* Nonsense 335/363 - 1
2-179417427-A-G c.90200T>C p.V30067A Missense 335/363 - 1
2-179417470-T-TGGC c.90156_90157insGCC p.T30052_K30053insA InFrameInsertion 335/363 - 1
2-179417472-G-A c.90155C>T p.T30052I Missense 335/363 - 1
2-179417490-G-C c.90137C>G p.S30046C Missense 335/363 - 1
2-179417509-T-C c.90118A>G p.K30040E Missense 335/363 - 2
2-179417524-G-A c.90103C>T p.R30035C Missense 335/363 - 1
2-179417589-A-G c.90038T>C p.I30013T Missense 335/363 - 1
2-179417589-A-T c.90038T>A p.I30013N Missense 335/363 - 1
2-179417593-C-T c.90034G>A p.E30012K Missense 335/363 - 2
2-179417633-C-T c.89994G>A p.S29998= Synonymous 335/363 - 1
2-179417685-G-T c.89942C>A p.S29981Y Missense 335/363 - 1
2-179417771-CA-C c.89855del p.L29952Cfs*14 Frameshift 335/363 - 1
2-179417877-C-T c.89750G>A p.G29917E Missense 335/363 - 1
2-179417913-T-C c.89714A>G p.N29905S Missense 335/363 - 1
2-179418010-A-G c.89617T>C p.W29873R Missense 335/363 - 1
2-179418024-G-A c.89603C>T p.P29868L Missense 335/363 - 1
2-179418112-T-C c.89515A>G p.I29839V Missense 335/363 - 1
2-179418286-C-A c.89446G>T p.A29816S Missense 334/363 - 1
2-179418346-C-T c.89386G>A p.V29796M Missense 334/363 - 2
2-179418367-C-T c.89365G>A p.E29789K Missense 334/363 - 1
2-179418375-G-A c.89357C>T p.T29786I Missense 334/363 - 1
2-179418415-T-A c.89317A>T p.I29773L Missense 334/363 - 1
2-179418418-C-G c.89314G>C p.E29772Q Missense 334/363 - 1
2-179418439-C-G c.89293G>C p.A29765P Missense 334/363 - 1
2-179418467-C-T c.89265G>A p.W29755* Nonsense 334/363 - 1
2-179418640-C-G c.89197+1G>C - IntronicSNV - 333/362 1
2-179418672-TG-T c.89165del p.P29722Hfs*20 Frameshift 333/363 - 1
2-179418679-G-C c.89159C>G p.S29720C Missense 333/363 - 2
2-179418705-T-G c.89133A>C p.V29711= Synonymous 333/363 - 1
2-179418747-TC-GT c.89090_89091delinsAC p.G29697D Missense 333/363 - 1
2-179418775-A-C c.89063T>G p.I29688S Missense 333/363 - 1
2-179418803-C-T c.89035G>A p.G29679R Missense 333/363 - 1
2-179418803-C-G c.89035G>C p.G29679R Missense 333/363 - 1
2-179418820-C-T c.89018G>A p.R29673Q Missense 333/363 - 1
2-179418854-C-T c.88984G>A p.G29662S Missense 333/363 - 1
2-179418856-C-A c.88982G>T p.G29661V Missense 333/363 - 1
2-179418877-C-T c.88961G>A p.W29654* Nonsense 333/363 - 1
2-179418876-C-T c.88962G>A p.W29654* Nonsense 333/363 - 1
2-179418892-G-A c.88946C>T p.S29649L Missense 333/363 - 1
2-179418920-G-A c.88918C>T p.P29640S Missense 333/363 - 1
2-179419216-G-A c.88858C>T p.L29620= Synonymous 332/363 - 1
2-179419226-A-C c.88848T>G p.I29616M Missense 332/363 - 1
2-179419237-T-A c.88837A>T p.K29613* Nonsense 332/363 - 1
2-179419272-C-G c.88802G>C p.G29601A Missense 332/363 - 1
2-179419306-C-G c.88768G>C p.E29590Q Missense 332/363 - 1
2-179419315-G-C c.88759C>G p.H29587D Missense 332/363 - 1
2-179419331-C-A c.88743G>T p.W29581C Missense 332/363 - 1
2-179419341-C-T c.88733G>A p.R29578H Missense 332/363 - 1
2-179419351-C-T c.88723G>A p.E29575K Missense 332/363 - 2
2-179419351-C-A c.88723G>T p.E29575* Nonsense 332/363 - 1
2-179419366-T-C c.88708A>G p.I29570V Missense 332/363 - 1
2-179419369-AGT-A c.88703_88704del p.H29568Lfs*7 Frameshift 332/363 - 1
2-179419389-C-T c.88685G>A p.G29562D Missense 332/363 - 2
2-179419419-G-C c.88655C>G p.T29552S Missense 332/363 - 1
2-179419420-T-A c.88654A>T p.T29552S Missense 332/363 - 1
2-179419452-A-G c.88622T>C p.I29541T Missense 332/363 - 1
2-179419465-G-T c.88609C>A p.P29537T Missense 332/363 - 1
2-179419604-C-T c.88582G>A p.V29528I Missense 331/363 - 1
2-179419676-C-A c.88510G>T p.D29504Y Missense 331/363 - 1
2-179419690-A-C c.88496T>G p.L29499R Missense 331/363 - 1
2-179419710-G-C c.88476C>G p.T29492= Synonymous 331/363 - 1
2-179419727-C-T c.88459G>A p.V29487M Missense 331/363 - 1
2-179419765-C-T c.88421G>A p.W29474* Nonsense 331/363 - 3
2-179419764-C-T c.88422G>A p.W29474* Nonsense 331/363 - 2
2-179421584-C-G c.88297G>C p.D29433H Missense 330/363 - 1
2-179421609-C-T c.88272G>A p.E29424= Synonymous 330/363 - 1
2-179421647-C-A c.88234G>T p.A29412S Missense 330/363 - 1
2-179421694-A-G c.88187T>C p.I29396T Missense 330/363 - 3
2-179421782-T-G c.88099A>C p.I29367L Missense 330/363 - 1
2-179421791-C-T c.88090G>A p.G29364S Missense 330/363 - 1
2-179421798-G-A c.88083C>T p.F29361= Synonymous 330/363 - 1
2-179421844-T-A c.88037A>T p.D29346V Missense 330/363 - 1
2-179421848-T-C c.88033A>G p.T29345A Missense 330/363 - 1
2-179422007-C-T c.87982G>A p.E29328K Missense 329/363 - 1
2-179422057-C-T c.87932G>A p.R29311K Missense 329/363 - 1
2-179422082-T-C c.87907A>G p.S29303G Missense 329/363 - 1
2-179422112-G-A c.87877C>T p.R29293C Missense 329/363 - 1
2-179422147-C-T c.87842G>A p.S29281N Missense 329/363 - 1
2-179422163-T-G c.87826A>C p.M29276L Missense 329/363 - 1
2-179422169-G-T c.87820C>A p.L29274M Missense 329/363 - 1
2-179422173-A-T c.87816T>A p.Y29272* Nonsense 329/363 - 1
2-179422173-A-C c.87816T>G p.Y29272* Nonsense 329/363 - 1
2-179422181-C-T c.87808G>A p.V29270I Missense 329/363 - 1
2-179422182-GAC-CAT c.87805_87807delinsATG p.V29269M Missense 329/363 - 1
2-179422208-G-T c.87781C>A p.P29261T Missense 329/363 - 1
2-179422213-T-C c.87776A>G p.H29259R Missense 329/363 - 1
2-179422216-C-T c.87773G>A p.W29258* Nonsense 329/363 - 1
2-179422215-C-T c.87774G>A p.W29258* Nonsense 329/363 - 1
2-179422218-G-T c.87771C>A p.G29257= Synonymous 329/363 - 1
2-179422231-CT-C c.87757del p.S29253Afs*18 Frameshift 329/363 - 1
2-179422248-AGTGACCCATGGTGTAGATG-A c.87722_87740del p.P29241Lfs*24 Frameshift 329/363 - 1
2-179422258-G-A c.87731C>T p.P29244L Missense 329/363 - 1
2-179422390-C-G c.87691G>C p.V29231L Missense 328/363 - 1
2-179422399-A-T c.87682T>A p.C29228S Missense 328/363 - 1
2-179422412-A-G c.87669T>C p.H29223= Synonymous 328/363 - 1
2-179422433-GT-G c.87647del p.N29216Tfs*9 Frameshift 328/363 - 1
2-179422449-C-T c.87632G>A p.R29211H Missense 328/363 - 1
2-179422457-G-T c.87624C>A p.Y29208* Nonsense 328/363 - 1
2-179422498-T-G c.87583A>C p.T29195P Missense 328/363 - 1
2-179422605-C-T c.87476G>A p.W29159* Nonsense 328/363 - 1
2-179422604-C-T c.87477G>A p.W29159* Nonsense 328/363 - 1
2-179422633-T-A c.87448A>T p.I29150L Missense 328/363 - 1
2-179422669-G-T c.87412C>A p.P29138T Missense 328/363 - 2
2-179422705-T-TGGC c.87375_87376insGCC p.T29125_T29126insA InFrameInsertion 328/363 - 1
2-179422718-G-A c.87363C>T p.N29121= Synonymous 328/363 - 1
2-179422726-GC-G c.87355del p.A29119Lfs*17 Frameshift 328/363 - 1
2-179422779-G-A c.87302C>T p.T29101I Missense 328/363 - 1
2-179422849-AG-A c.87231del p.L29078Yfs*12 Frameshift 328/363 - 1
2-179422924-T-C c.87157A>G p.T29053A Missense 328/363 - 1
2-179422932-G-A c.87149C>T p.P29050L Missense 328/363 - 1
2-179422948-C-T c.87133G>A p.D29045N Missense 328/363 - 1
2-179423099-A-G c.87087T>C p.L29029= Synonymous 327/363 - 1
2-179423113-C-A c.87073G>T p.D29025Y Missense 327/363 - 1
2-179423145-C-T c.87041G>A p.R29014Q Missense 327/363 - 1
2-179423299-A-G c.86887T>C p.W28963R Missense 327/363 - 1
2-179423329-T-C c.86857A>G p.S28953G Missense 327/363 - 1
2-179424048-T-C c.86811A>G p.V28937= Synonymous 326/363 - 1
2-179424113-AATAG-A c.86742_86745del p.Y28915Tfs*22 Frameshift 326/363 - 1
2-179424131-G-A c.86728C>T p.Q28910* Nonsense 326/363 - 1
2-179424132-T-G c.86727A>C p.L28909F Missense 326/363 - 1
2-179424217-TG-T c.86641del p.H28881Tfs*2 Frameshift 326/363 - 1
2-179424221-A-C c.86638T>G p.Y28880D Missense 326/363 - 1
2-179424242-C-A c.86617G>T p.G28873C Missense 326/363 - 1
2-179424333-A-C c.86526T>G p.V28842= Synonymous 326/363 - 1
2-179424388-G-A c.86471C>T p.T28824I Missense 326/363 - 1
2-179424485-C-A c.86374G>T p.D28792Y Missense 326/363 - 1
2-179424535-G-A c.86324C>T p.T28775I Missense 326/363 - 1
2-179424558-C-T c.86301G>A p.K28767= Synonymous 326/363 - 1
2-179424616-C-T c.86243G>A p.R28748K Missense 326/363 - 1
2-179424682-TTTTA-T c.86174_86177del p.V28725Dfs*19 Frameshift 326/363 - 1
2-179424743-G-A c.86116C>T p.R28706* Nonsense 326/363 - 2
2-179424754-A-G c.86105T>C p.I28702T Missense 326/363 - 1
2-179424780-A-AT c.86078_86079insA p.D28694* Nonsense 326/363 - 1
2-179424784-T-G c.86075A>C p.K28692T Missense 326/363 - 1
2-179424782-A-AT c.86076dup p.S28693Ifs*2 Frameshift 326/363 - 4
2-179424880-A-G c.85979T>C p.I28660T Missense 326/363 - 2
2-179424968-GC-G c.85891del p.A28631Lfs*3 Frameshift 326/363 - 1
2-179424982-T-C c.85877A>G p.Y28626C Missense 326/363 - 2
2-179425031-C-T c.85828G>A p.V28610M Missense 326/363 - 1
2-179425041-A-T c.85818T>A p.Y28606* Nonsense 326/363 - 1
2-179425063-C-T c.85796G>A p.R28599H Missense 326/363 - 1
2-179425091-G-A c.85768C>T p.R28590* Nonsense 326/363 - 2
2-179425097-C-A c.85762G>T p.E28588* Nonsense 326/363 - 1
2-179425207-G-C c.85652C>G p.P28551R Missense 326/363 - 1
2-179425208-G-T c.85651C>A p.P28551T Missense 326/363 - 1
2-179425210-A-T c.85649T>A p.V28550D Missense 326/363 - 1
2-179425270-T-G c.85589A>C p.K28530T Missense 326/363 - 1
2-179425280-C-T c.85579G>A p.G28527S Missense 326/363 - 1
2-179425292-A-G c.85567T>C p.F28523L Missense 326/363 - 1
2-179425294-A-G c.85565T>C p.I28522T Missense 326/363 - 1
2-179425306-C-T c.85553G>A p.G28518D Missense 326/363 - 1
2-179425349-C-A c.85510G>T p.E28504* Nonsense 326/363 - 1
2-179425365-C-T c.85494G>A p.W28498* Nonsense 326/363 - 1
2-179425370-C-A c.85489G>T p.A28497S Missense 326/363 - 1
2-179425388-G-A c.85471C>T p.R28491C Missense 326/363 - 1
2-179425394-C-T c.85465G>A p.E28489K Missense 326/363 - 1
2-179425479-T-C c.85380A>G p.I28460M Missense 326/363 - 1
2-179425509-C-G c.85350G>C p.K28450N Missense 326/363 - 1
2-179425543-C-T c.85316G>A p.R28439Q Missense 326/363 - 1
2-179425594-C-T c.85265G>A p.R28422K Missense 326/363 - 1
2-179425708-CG-TT c.85150_85151delinsAA p.R28384K Missense 326/363 - 1
2-179425708-C-A c.85151G>T p.R28384L Missense 326/363 - 1
2-179425748-C-CT c.85110dup p.A28371Sfs*6 Frameshift 326/363 - 1
2-179425769-G-A c.85090C>T p.R28364* Nonsense 326/363 - 1
2-179425778-C-T c.85081G>A p.V28361I Missense 326/363 - 2
2-179425783-A-T c.85076T>A p.M28359K Missense 326/363 - 1
2-179425840-G-T c.85019C>A p.S28340Y Missense 326/363 - 1
2-179425883-G-A c.84976C>T p.R28326W Missense 326/363 - 1
2-179425910-G-A c.84949C>T p.L28317F Missense 326/363 - 1
2-179425936-T-G c.84923A>C p.Q28308P Missense 326/363 - 1
2-179425976-G-A c.84883C>T p.P28295S Missense 326/363 - 1
2-179426084-G-GA c.84774_84775insT p.P28259Sfs*2 Frameshift 326/363 - 1
2-179426156-C-A c.84703G>T p.A28235S Missense 326/363 - 1
2-179426207-C-T c.84652G>A p.G28218S Missense 326/363 - 1
2-179426387-G-A c.84472C>T p.P28158S Missense 326/363 - 1
2-179426393-C-A c.84466G>T p.G28156C Missense 326/363 - 1
2-179426406-T-C c.84453A>G p.P28151= Synonymous 326/363 - 1
2-179426408-G-A c.84451C>T p.P28151S Missense 326/363 - 1
2-179426416-G-A c.84443C>T p.A28148V Missense 326/363 - 1
2-179426474-C-T c.84385G>A p.V28129I Missense 326/363 - 1
2-179426494-C-A c.84365G>T p.G28122V Missense 326/363 - 1
2-179426506-C-T c.84353G>A p.R28118H Missense 326/363 - 1
2-179426506-C-A c.84353G>T p.R28118L Missense 326/363 - 1
2-179426507-G-A c.84352C>T p.R28118C Missense 326/363 - 1
2-179426553-C-A c.84306G>T p.W28102C Missense 326/363 - 1
2-179426553-C-G c.84306G>C p.W28102C Missense 326/363 - 1
2-179426582-C-G c.84277G>C p.E28093Q Missense 326/363 - 1
2-179426623-G-A c.84236C>T p.P28079L Missense 326/363 - 1
2-179426692-G-A c.84167C>T p.P28056L Missense 326/363 - 1
2-179426702-G-A c.84157C>T p.L28053F Missense 326/363 - 1
2-179426899-T-G c.83960A>C p.K27987T Missense 326/363 - 1
2-179426953-A-T c.83906T>A p.F27969Y Missense 326/363 - 1
2-179426969-GAA-G c.83889_83890del p.V27965* Frameshift 326/363 - 1
2-179427087-A-G c.83772T>C p.S27924= Synonymous 326/363 - 1
2-179427098-C-G c.83761G>C p.A27921P Missense 326/363 - 1
2-179427119-T-C c.83740A>G p.T27914A Missense 326/363 - 1
2-179427186-A-G c.83673T>C p.G27891= Synonymous 326/363 - 1
2-179427251-C-T c.83608G>A p.V27870I Missense 326/363 - 1
2-179427313-C-A c.83546G>T p.G27849V Missense 326/363 - 1
2-179427343-C-T c.83516G>A p.R27839Q Missense 326/363 - 3
2-179427344-G-A c.83515C>T p.R27839* Nonsense 326/363 - 1
2-179427536-T-C c.83323A>G p.I27775V Missense 326/363 - 5
2-179427560-G-T c.83299C>A p.P27767T Missense 326/363 - 1
2-179427566-C-T c.83293G>A p.D27765N Missense 326/363 - 1
2-179427587-A-G c.83272T>C p.F27758L Missense 326/363 - 1
2-179427688-A-C c.83171T>G p.V27724G Missense 326/363 - 1
2-179427713-G-A c.83146C>T p.L27716F Missense 326/363 - 1
2-179427726-CT-C c.83132del p.K27711Rfs*12 Frameshift 326/363 - 1
2-179427779-G-A c.83080C>T p.R27694C Missense 326/363 - 1
2-179427787-G-C c.83072C>G p.A27691G Missense 326/363 - 1
2-179427796-CGCA-C c.83060_83062del p.L27687del InFrameDeletion 326/363 - 1
2-179427803-C-T c.83056G>A p.V27686I Missense 326/363 - 1
2-179427835-A-G c.83024T>C p.I27675T Missense 326/363 - 1
2-179427856-CT-C c.83003del p.E27668Gfs*3 Frameshift 326/363 - 1
2-179427875-C-G c.82984G>C p.G27662R Missense 326/363 - 1
2-179427979-T-G c.82880A>C p.Q27627P Missense 326/363 - 1
2-179428009-C-T c.82850G>A p.W27617* Nonsense 326/363 - 1
2-179428008-C-T c.82851G>A p.W27617* Nonsense 326/363 - 1
2-179428049-C-G c.82810G>C p.G27604R Missense 326/363 - 1
2-179428049-C-T c.82810G>A p.G27604S Missense 326/363 - 2
2-179428061-C-T c.82798G>A p.A27600T Missense 326/363 - 1
2-179428079-G-C c.82780C>G p.P27594A Missense 326/363 - 1
2-179428086-C-T c.82773G>A p.W27591* Nonsense 326/363 - 2
2-179428087-C-T c.82772G>A p.W27591* Nonsense 326/363 - 1
2-179428105-G-T c.82754C>A p.S27585Y Missense 326/363 - 1
2-179428119-C-T c.82740G>A p.T27580= Synonymous 326/363 - 2
2-179428130-G-A c.82729C>T p.P27577S Missense 326/363 - 1
2-179428172-G-A c.82687C>T p.R27563C Missense 326/363 - 1
2-179428198-T-C c.82661A>G p.E27554G Missense 326/363 - 1
2-179428243-G-C c.82616C>G p.S27539C Missense 326/363 - 1
2-179428256-T-C c.82603A>G p.T27535A Missense 326/363 - 1
2-179428276-C-T c.82583G>A p.R27528Q Missense 326/363 - 1
2-179428284-C-T c.82575G>A p.T27525= Synonymous 326/363 - 1
2-179428299-G-T c.82560C>A p.N27520K Missense 326/363 - 2
2-179428334-G-A c.82525C>T p.R27509* Nonsense 326/363 - 2
2-179428378-A-C c.82481T>G p.V27494G Missense 326/363 - 1
2-179428391-A-T c.82468T>A p.W27490R Missense 326/363 - 1
2-179428391-A-G c.82468T>C p.W27490R Missense 326/363 - 1
2-179428474-G-T c.82385C>A p.T27462K Missense 326/363 - 1
2-179428474-G-A c.82385C>T p.T27462M Missense 326/363 - 1
2-179428525-A-G c.82334T>C p.M27445T Missense 326/363 - 1
2-179428526-T-G c.82333A>C p.M27445L Missense 326/363 - 1
2-179428526-T-A c.82333A>T p.M27445L Missense 326/363 - 1
2-179428545-A-AT c.82313dup p.N27438Kfs*2 Frameshift 326/363 - 1
2-179428580-G-A c.82279C>T p.L27427F Missense 326/363 - 1
2-179428619-G-A c.82240C>T p.R27414* Nonsense 326/363 - 1
2-179428621-CT-TA c.82237_82238delinsTA p.S27413Y Missense 326/363 - 1
2-179428625-T-C c.82234A>G p.T27412A Missense 326/363 - 1
2-179428672-TG-AC c.82186_82187delinsGT p.Q27396V Missense 326/363 - 1
2-179428717-C-G c.82142G>C p.G27381A Missense 326/363 - 1
2-179428757-C-T c.82102G>A p.D27368N Missense 326/363 - 1
2-179428776-G-A c.82083C>T p.P27361= Synonymous 326/363 - 1
2-179428776-G-C c.82083C>G p.P27361= Synonymous 326/363 - 1
2-179428776-G-T c.82083C>A p.P27361= Synonymous 326/363 - 1
2-179428778-G-C c.82081C>G p.P27361A Missense 326/363 - 1
2-179428834-G-A c.82025C>T p.T27342I Missense 326/363 - 1
2-179428856-C-G c.82003G>C p.V27335L Missense 326/363 - 1
2-179428858-A-G c.82001T>C p.L27334P Missense 326/363 - 1
2-179428901-C-T c.81958G>A p.A27320T Missense 326/363 - 1
2-179428945-G-A c.81914C>T p.P27305L Missense 326/363 - 1
2-179428981-A-G c.81878T>C p.F27293S Missense 326/363 - 1
2-179428996-T-G c.81863A>C p.H27288P Missense 326/363 - 1
2-179429004-G-A c.81855C>T p.I27285= Synonymous 326/363 - 1
2-179429012-C-T c.81847G>A p.D27283N Missense 326/363 - 1
2-179429027-C-A c.81832G>T p.D27278Y Missense 326/363 - 1
2-179429050-A-G c.81809T>C p.I27270T Missense 326/363 - 1
2-179429082-A-C c.81777T>G p.D27259E Missense 326/363 - 1
2-179429082-A-T c.81777T>A p.D27259E Missense 326/363 - 1
2-179429090-G-T c.81769C>A p.P27257T Missense 326/363 - 1
2-179429229-T-G c.81630A>C p.K27210N Missense 326/363 - 1
2-179429229-T-A c.81630A>T p.K27210N Missense 326/363 - 1
2-179429249-C-T c.81610G>A p.G27204S Missense 326/363 - 1
2-179429294-G-C c.81565C>G p.L27189V Missense 326/363 - 1
2-179429301-A-G c.81558T>C p.N27186= Synonymous 326/363 - 1
2-179429332-C-A c.81527G>T p.R27176L Missense 326/363 - 1
2-179429340-TG-T c.81518del p.P27173Hfs*17 Frameshift 326/363 - 1
2-179429458-G-A c.81401C>T p.T27134I Missense 326/363 - 1
2-179429468-T-A c.81391A>T p.K27131* Nonsense 326/363 - 1
2-179429483-G-A c.81376C>T p.P27126S Missense 326/363 - 1
2-179429517-C-CT c.81341dup p.N27115Efs*10 Frameshift 326/363 - 1
2-179429526-C-T c.81333G>A p.Q27111= Synonymous 326/363 - 1
2-179429549-ATTTT-A c.81307_81310del p.K27103Lfs*19 Frameshift 326/363 - 1
2-179429558-C-G c.81301G>C p.G27101R Missense 326/363 - 1
2-179429576-C-T c.81283G>A p.E27095K Missense 326/363 - 1
2-179429590-A-G c.81269T>C p.L27090P Missense 326/363 - 1
2-179429609-T-C c.81250A>G p.I27084V Missense 326/363 - 1
2-179429667-A-G c.81192T>C p.V27064= Synonymous 326/363 - 1
2-179429694-T-G c.81165A>C p.K27055N Missense 326/363 - 1
2-179429694-T-A c.81165A>T p.K27055N Missense 326/363 - 1
2-179429707-T-C c.81152A>G p.N27051S Missense 326/363 - 1
2-179429800-C-A c.81059G>T p.W27020L Missense 326/363 - 1
2-179429813-T-A c.81046A>T p.T27016S Missense 326/363 - 1
2-179429821-C-T c.81038G>A p.R27013Q Missense 326/363 - 1
2-179429823-C-A c.81036G>T p.K27012N Missense 326/363 - 1
2-179429824-T-C c.81035A>G p.K27012R Missense 326/363 - 1
2-179429837-A-C c.81022T>G p.Y27008D Missense 326/363 - 1
2-179429842-C-T c.81017G>A p.S27006N Missense 326/363 - 1
2-179429843-T-A c.81016A>T p.S27006C Missense 326/363 - 1
2-179429849-G-A c.81010C>T p.Q27004* Nonsense 326/363 - 1
2-179429857-C-T c.81002G>A p.G27001D Missense 326/363 - 1
2-179429909-C-A c.80950G>T p.E26984* Nonsense 326/363 - 1
2-179429948-C-A c.80911G>T p.E26971* Nonsense 326/363 - 1
2-179429961-A-C c.80898T>G p.S26966R Missense 326/363 - 1
2-179429961-A-T c.80898T>A p.S26966R Missense 326/363 - 1
2-179429963-T-G c.80896A>C p.S26966R Missense 326/363 - 1
2-179430001-G-A c.80858C>T p.T26953M Missense 326/363 - 1
2-179430021-G-C c.80838C>G p.D26946E Missense 326/363 - 1
2-179430021-G-T c.80838C>A p.D26946E Missense 326/363 - 1
2-179430034-CCTT-C c.80822_80824del p.E26941del InFrameDeletion 326/363 - 1
2-179430060-G-T c.80799C>A p.T26933= Synonymous 326/363 - 1
2-179430077-C-T c.80782G>A p.V26928I Missense 326/363 - 1
2-179430148-A-G c.80711T>C p.I26904T Missense 326/363 - 1
2-179430158-T-C c.80701A>G p.I26901V Missense 326/363 - 1
2-179430224-G-T c.80635C>A p.Q26879K Missense 326/363 - 1
2-179430245-T-C c.80614A>G p.I26872V Missense 326/363 - 1
2-179430305-G-A c.80554C>T p.R26852C Missense 326/363 - 2
2-179430311-G-A c.80548C>T p.Q26850* Nonsense 326/363 - 1
2-179430317-C-G c.80542G>C p.E26848Q Missense 326/363 - 1
2-179430345-CT-C c.80514del p.V26839Lfs*5 Frameshift 326/363 - 1
2-179430371-CA-C c.80487del p.I26829Mfs*15 Frameshift 326/363 - 1
2-179430412-A-G c.80447T>C p.V26816A Missense 326/363 - 1
2-179430413-C-A c.80446G>T p.V26816F Missense 326/363 - 1
2-179430433-C-T c.80426G>A p.G26809D Missense 326/363 - 1
2-179430434-C-T c.80425G>A p.G26809S Missense 326/363 - 1
2-179430457-C-A c.80402G>T p.W26801L Missense 326/363 - 1
2-179430467-A-T c.80392T>A p.S26798T Missense 326/363 - 1
2-179430506-C-T c.80353G>A p.G26785R Missense 326/363 - 1
2-179430506-C-G c.80353G>C p.G26785R Missense 326/363 - 1
2-179430536-C-T c.80323G>A p.V26775M Missense 326/363 - 1
2-179430620-G-A c.80239C>T p.L26747F Missense 326/363 - 1
2-179430650-A-T c.80209T>A p.C26737S Missense 326/363 - 1
2-179430672-C-T c.80187G>A p.A26729= Synonymous 326/363 - 1
2-179430733-A-G c.80126T>C p.I26709T Missense 326/363 - 1
2-179430856-C-T c.80003G>A p.S26668N Missense 326/363 - 1
2-179430890-C-G c.79969G>C p.D26657H Missense 326/363 - 1
2-179430968-C-A c.79891G>T p.G26631C Missense 326/363 - 1
2-179430997-G-A c.79862C>T p.T26621M Missense 326/363 - 4
2-179431032-CA-C c.79827del p.A26610Pfs*34 Frameshift 326/363 - 1
2-179431066-A-C c.79793T>G p.L26598* Nonsense 326/363 - 1
2-179431076-C-G c.79783G>C p.D26595H Missense 326/363 - 1
2-179431077-A-T c.79782T>A p.L26594= Synonymous 326/363 - 1
2-179431077-A-C c.79782T>G p.L26594= Synonymous 326/363 - 1
2-179431077-A-G c.79782T>C p.L26594= Synonymous 326/363 - 1
2-179431116-C-A c.79743G>T p.V26581= Synonymous 326/363 - 1
2-179431131-T-G c.79728A>C p.S26576= Synonymous 326/363 - 1
2-179431132-G-A c.79727C>T p.S26576L Missense 326/363 - 1
2-179431158-GT-G c.79700del p.N26567Tfs*5 Frameshift 326/363 - 1
2-179431170-G-T c.79689C>A p.V26563= Synonymous 326/363 - 1
2-179431174-C-T c.79685G>A p.R26562Q Missense 326/363 - 1
2-179431175-G-A c.79684C>T p.R26562* Nonsense 326/363 - 2
2-179431175-G-GT c.79683dup p.R26562Tfs*12 Frameshift 326/363 - 2
2-179431177-A-G c.79682T>C p.I26561T Missense 326/363 - 1
2-179431219-C-T c.79640G>A p.R26547Q Missense 326/363 - 1
2-179431235-C-A c.79624G>T p.G26542C Missense 326/363 - 1
2-179431247-T-C c.79612A>G p.T26538A Missense 326/363 - 1
2-179431288-A-G c.79571T>C p.V26524A Missense 326/363 - 1
2-179431339-G-A c.79520C>T p.A26507V Missense 326/363 - 1
2-179431404-CA-GT c.79454_79455delinsAC p.V26485D Missense 326/363 - 1
2-179431444-G-A c.79415C>T p.P26472L Missense 326/363 - 1
2-179431511-C-T c.79348G>A p.G26450R Missense 326/363 - 1
2-179431540-C-T c.79319G>A p.R26440H Missense 326/363 - 1
2-179431541-G-A c.79318C>T p.R26440C Missense 326/363 - 1
2-179431582-CT-C c.79276del p.R26426Efs*9 Frameshift 326/363 - 1
2-179431587-C-G c.79272G>C p.E26424D Missense 326/363 - 1
2-179431587-C-A c.79272G>T p.E26424D Missense 326/363 - 1
2-179431594-A-G c.79265T>C p.I26422T Missense 326/363 - 1
2-179431618-C-T c.79241G>A p.G26414D Missense 326/363 - 1
2-179431681-A-G c.79178T>C p.L26393S Missense 326/363 - 1
2-179431758-A-T c.79101T>A p.Y26367* Nonsense 326/363 - 1
2-179431787-AC-A c.79072del p.V26358Ffs*4 Frameshift 326/363 - 1
2-179431797-A-T c.79062T>A p.G26354= Synonymous 326/363 - 1
2-179431804-AA-GG c.79054_79055delinsCC p.L26352P Missense 326/363 - 1
2-179431825-G-A c.79034C>T p.S26345F Missense 326/363 - 1
2-179431868-G-A c.78991C>T p.R26331* Nonsense 326/363 - 1
2-179431886-C-G c.78973G>C p.E26325Q Missense 326/363 - 1
2-179431924-A-G c.78935T>C p.L26312P Missense 326/363 - 1
2-179432018-C-T c.78841G>A p.V26281I Missense 326/363 - 1
2-179432105-T-G c.78754A>C p.I26252L Missense 326/363 - 1
2-179432113-G-A c.78746C>T p.A26249V Missense 326/363 - 1
2-179432128-T-A c.78731A>T p.N26244I Missense 326/363 - 1
2-179432163-C-G c.78696G>C p.K26232N Missense 326/363 - 1
2-179432163-C-A c.78696G>T p.K26232N Missense 326/363 - 1
2-179432185-A-G c.78674T>C p.I26225T Missense 326/363 - 4
2-179432198-G-A c.78661C>T p.P26221S Missense 326/363 - 1
2-179432207-G-T c.78652C>A p.H26218N Missense 326/363 - 1
2-179432264-ATT-A c.78593_78594del p.K26198Ifs*16 Frameshift 326/363 - 1
2-179432283-T-C c.78576A>G p.R26192= Synonymous 326/363 - 1
2-179432285-T-G c.78574A>C p.R26192= Synonymous 326/363 - 1
2-179432349-A-C c.78510T>G p.G26170= Synonymous 326/363 - 1
2-179432349-A-T c.78510T>A p.G26170= Synonymous 326/363 - 1
2-179432349-A-G c.78510T>C p.G26170= Synonymous 326/363 - 1
2-179432420-G-A c.78439C>T p.Q26147* Nonsense 326/363 - 1
2-179432465-C-T c.78394G>A p.D26132N Missense 326/363 - 1
2-179432555-T-C c.78304A>G p.R26102G Missense 326/363 - 1
2-179432651-T-C c.78208A>G p.I26070V Missense 326/363 - 1
2-179432681-C-A c.78178G>T p.E26060* Nonsense 326/363 - 1
2-179432702-G-A c.78157C>T p.Q26053* Nonsense 326/363 - 1
2-179432712-T-C c.78147A>G p.Q26049= Synonymous 326/363 - 1
2-179432740-A-G c.78119T>C p.V26040A Missense 326/363 - 1
2-179432751-C-G c.78108G>C p.L26036F Missense 326/363 - 1
2-179432752-A-T c.78107T>A p.L26036* Nonsense 326/363 - 1
2-179432760-GTTTC-G c.78095_78098del p.R26032Tfs*41 Frameshift 326/363 - 1
2-179432791-A-G c.78068T>C p.I26023T Missense 326/363 - 1
2-179432794-A-C c.78065T>G p.V26022G Missense 326/363 - 1
2-179432831-G-A c.78028C>T p.Q26010* Nonsense 326/363 - 1
2-179432840-T-C c.78019A>G p.M26007V Missense 326/363 - 1
2-179432859-T-C c.78000A>G p.T26000= Synonymous 326/363 - 1
2-179432870-G-A c.77989C>T p.P25997S Missense 326/363 - 1
2-179432884-C-T c.77975G>A p.G25992D Missense 326/363 - 1
2-179432894-T-A c.77965A>T p.K25989* Nonsense 326/363 - 1
2-179432921-C-T c.77938G>A p.D25980N Missense 326/363 - 1
2-179432965-A-G c.77894T>C p.I25965T Missense 326/363 - 1
2-179433011-G-A c.77848C>T p.L25950F Missense 326/363 - 1
2-179433070-T-G c.77789A>C p.K25930T Missense 326/363 - 1
2-179433095-G-A c.77764C>T p.Q25922* Nonsense 326/363 - 1
2-179433101-C-T c.77758G>A p.G25920S Missense 326/363 - 1
2-179433209-C-T c.77650G>A p.E25884K Missense 326/363 - 1
2-179433214-GA-AG c.77644_77645delinsCT p.S25882L Missense 326/363 - 1
2-179433221-T-C c.77638A>G p.T25880A Missense 326/363 - 1
2-179433303-G-A c.77556C>T p.L25852= Synonymous 326/363 - 1
2-179433309-CAG-AAA c.77548_77550delinsTTT p.L25850F Missense 326/363 - 1
2-179433337-G-A c.77522C>T p.T25841I Missense 326/363 - 1
2-179433548-C-T c.77311G>A p.V25771I Missense 326/363 - 1
2-179433580-T-C c.77279A>G p.N25760S Missense 326/363 - 1
2-179433592-G-A c.77267C>T p.A25756V Missense 326/363 - 1
2-179433603-CTT-C c.77254_77255del p.K25752Vfs*18 Frameshift 326/363 - 1
2-179433650-T-G c.77209A>C p.M25737L Missense 326/363 - 1
2-179433650-T-A c.77209A>T p.M25737L Missense 326/363 - 1
2-179433654-C-T c.77205G>A p.V25735= Synonymous 326/363 - 1
2-179433665-G-A c.77194C>T p.Q25732* Nonsense 326/363 - 1
2-179433713-A-AG c.77145dup p.S25716Lfs*8 Frameshift 326/363 - 1
2-179433783-T-G c.77076A>C p.P25692= Synonymous 326/363 - 1
2-179433785-G-T c.77074C>A p.P25692T Missense 326/363 - 1
2-179433863-G-A c.76996C>T p.Q25666* Nonsense 326/363 - 1
2-179433883-G-C c.76976C>G p.S25659C Missense 326/363 - 1
2-179433913-G-A c.76946C>T p.A25649V Missense 326/363 - 1
2-179434005-T-C c.76854A>G p.V25618= Synonymous 326/363 - 1
2-179434007-C-T c.76852G>A p.V25618I Missense 326/363 - 1
2-179434009-G-GGC c.76849_76850insGC p.S25617Cfs*18 Frameshift 326/363 - 1
2-179434021-A-T c.76838T>A p.I25613N Missense 326/363 - 1
2-179434051-C-CT c.76807dup p.S25603Kfs*5 Frameshift 326/363 - 1
2-179434137-A-G c.76722T>C p.Y25574= Synonymous 326/363 - 1
2-179434139-A-G c.76720T>C p.Y25574H Missense 326/363 - 1
2-179434142-G-A c.76717C>T p.R25573* Nonsense 326/363 - 1
2-179434272-CCT-ATG c.76585_76587delinsCAT p.R25529H Missense 326/363 - 5
2-179434376-C-T c.76483G>A p.V25495I Missense 326/363 - 1
2-179434420-C-G c.76439G>C p.R25480P Missense 326/363 - 1
2-179434453-T-A c.76406A>T p.E25469V Missense 326/363 - 1
2-179434462-ATGTT-A c.76393_76396del p.N25465* Frameshift 326/363 - 1
2-179434472-TATTA-T c.76383_76386del p.N25462Kfs*4 Frameshift 326/363 - 1
2-179434485-TG-T c.76373del p.P25458Qfs*9 Frameshift 326/363 - 1
2-179434516-C-T c.76343G>A p.S25448N Missense 326/363 - 2
2-179434532-C-G c.76327G>C p.E25443Q Missense 326/363 - 1
2-179434555-C-T c.76304G>A p.C25435Y Missense 326/363 - 1
2-179434556-A-T c.76303T>A p.C25435S Missense 326/363 - 1
2-179434555-C-G c.76304G>C p.C25435S Missense 326/363 - 1
2-179434637-G-T c.76222C>A p.P25408T Missense 326/363 - 1
2-179434639-C-T c.76220G>A p.G25407E Missense 326/363 - 1
2-179434670-G-A c.76189C>T p.Q25397* Nonsense 326/363 - 1
2-179434742-G-GA c.76116dup p.H25373Sfs*4 Frameshift 326/363 - 1
2-179434745-T-TA c.76113_76114insT p.N25372* Nonsense 326/363 - 1
2-179434750-A-G c.76109T>C p.I25370T Missense 326/363 - 1
2-179434779-TC-GT c.76079_76080delinsAC p.G25360D Missense 326/363 - 1
2-179434804-G-A c.76055C>T p.T25352I Missense 326/363 - 1
2-179434823-T-C c.76036A>G p.K25346E Missense 326/363 - 1
2-179434846-C-A c.76013G>T p.G25338V Missense 326/363 - 3
2-179434853-T-C c.76006A>G p.I25336V Missense 326/363 - 1
2-179434864-C-T c.75995G>A p.G25332D Missense 326/363 - 1
2-179434928-G-T c.75931C>A p.P25311T Missense 326/363 - 1
2-179434994-C-A c.75865G>T p.E25289* Nonsense 326/363 - 1
2-179435000-C-T c.75859G>A p.V25287I Missense 326/363 - 2
2-179435125-C-T c.75734G>A p.R25245K Missense 326/363 - 1
2-179435126-T-A c.75733A>T p.R25245* Nonsense 326/363 - 1
2-179435201-C-T c.75658G>A p.E25220K Missense 326/363 - 1
2-179435239-G-C c.75620C>G p.P25207R Missense 326/363 - 1
2-179435245-G-A c.75614C>T p.P25205L Missense 326/363 - 1
2-179435257-AC-A c.75601del p.V25201Ffs*24 Frameshift 326/363 - 1
2-179435285-C-T c.75574G>A p.E25192K Missense 326/363 - 1
2-179435299-T-C c.75560A>G p.K25187R Missense 326/363 - 1
2-179435313-G-T c.75546C>A p.Y25182* Nonsense 326/363 - 1
2-179435322-A-G c.75537T>C p.S25179= Synonymous 326/363 - 1
2-179435327-C-T c.75532G>A p.D25178N Missense 326/363 - 1
2-179435337-T-G c.75522A>C p.A25174= Synonymous 326/363 - 1
2-179435376-C-G c.75483G>C p.K25161N Missense 326/363 - 2
2-179435389-C-T c.75470G>A p.R25157Q Missense 326/363 - 1
2-179435390-G-A c.75469C>T p.R25157* Nonsense 326/363 - 1
2-179435449-C-T c.75410G>A p.G25137D Missense 326/363 - 1
2-179435467-AC-A c.75391del p.V25131Lfs*16 Frameshift 326/363 - 1
2-179435488-T-C c.75371A>G p.H25124R Missense 326/363 - 1
2-179435495-C-T c.75364G>A p.V25122M Missense 326/363 - 1
2-179435563-G-T c.75296C>A p.A25099E Missense 326/363 - 1
2-179435566-C-T c.75293G>A p.G25098E Missense 326/363 - 1
2-179435587-C-T c.75272G>A p.S25091N Missense 326/363 - 1
2-179435597-C-G c.75262G>C p.G25088R Missense 326/363 - 1
2-179435600-C-T c.75259G>A p.A25087T Missense 326/363 - 1
2-179435665-T-C c.75194A>G p.H25065R Missense 326/363 - 1
2-179435705-G-A c.75154C>T p.R25052C Missense 326/363 - 1
2-179435794-G-A c.75065C>T p.S25022F Missense 326/363 - 1
2-179435825-G-A c.75034C>T p.R25012W Missense 326/363 - 1
2-179435834-G-A c.75025C>T p.P25009S Missense 326/363 - 1
2-179435841-T-A c.75018A>T p.P25006= Synonymous 326/363 - 1
2-179435841-T-C c.75018A>G p.P25006= Synonymous 326/363 - 1
2-179435841-T-G c.75018A>C p.P25006= Synonymous 326/363 - 1
2-179435855-C-T c.75004G>A p.V25002M Missense 326/363 - 1
2-179435887-A-G c.74972T>C p.I24991T Missense 326/363 - 1
2-179435891-C-A c.74968G>T p.G24990C Missense 326/363 - 1
2-179435902-T-C c.74957A>G p.E24986G Missense 326/363 - 1
2-179435944-C-A c.74915G>T p.G24972V Missense 326/363 - 1
2-179435993-C-T c.74866G>A p.V24956I Missense 326/363 - 1
2-179436003-G-T c.74856C>A p.S24952R Missense 326/363 - 1
2-179436020-G-A c.74839C>T p.R24947C Missense 326/363 - 4
2-179436020-G-T c.74839C>A p.R24947S Missense 326/363 - 1
2-179436039-G-A c.74820C>T p.V24940= Synonymous 326/363 - 1
2-179436039-G-C c.74820C>G p.V24940= Synonymous 326/363 - 1
2-179436039-G-T c.74820C>A p.V24940= Synonymous 326/363 - 1
2-179436049-C-T c.74810G>A p.G24937E Missense 326/363 - 1
2-179436080-CT-C c.74778del p.V24927Yfs*19 Frameshift 326/363 - 1
2-179436085-A-G c.74774T>C p.M24925T Missense 326/363 - 1
2-179436158-C-T c.74701G>A p.V24901I Missense 326/363 - 1
2-179436192-A-AT c.74666dup p.Y24889* Nonsense 326/363 - 1
2-179436195-TCT-CCA c.74662_74664delinsTGG p.R24888W Missense 326/363 - 1
2-179436253-T-C c.74606A>G p.K24869R Missense 326/363 - 1
2-179436260-T-C c.74599A>G p.T24867A Missense 326/363 - 1
2-179436256-ATTG-A c.74600_74602del p.T24867del InFrameDeletion 326/363 - 1
2-179436263-T-C c.74596A>G p.T24866A Missense 326/363 - 1
2-179436264-CCT-ACA c.74593_74595delinsTGT p.R24865C Missense 326/363 - 1
2-179436288-T-A c.74571A>T p.Q24857H Missense 326/363 - 2
2-179436288-T-G c.74571A>C p.Q24857H Missense 326/363 - 2
2-179436332-T-C c.74527A>G p.N24843D Missense 326/363 - 1
2-179436379-G-GA c.74479_74480insT p.T24827Ifs*10 Frameshift 326/363 - 1
2-179436391-G-C c.74468C>G p.A24823G Missense 326/363 - 1
2-179436482-A-T c.74377T>A p.S24793T Missense 326/363 - 1
2-179436520-C-T c.74339G>A p.R24780Q Missense 326/363 - 1
2-179436521-G-A c.74338C>T p.R24780* Nonsense 326/363 - 1
2-179436528-G-A c.74331C>T p.D24777= Synonymous 326/363 - 1
2-179436538-G-A c.74321C>T p.T24774I Missense 326/363 - 1
2-179436544-A-T c.74315T>A p.L24772Q Missense 326/363 - 1
2-179436575-C-T c.74284G>A p.V24762I Missense 326/363 - 1
2-179436580-G-GA c.74278_74279insT p.T24760Ifs*2 Frameshift 326/363 - 1
2-179436584-T-A c.74275A>T p.T24759S Missense 326/363 - 1
2-179436635-G-A c.74224C>T p.R24742C Missense 326/363 - 1
2-179436652-T-A c.74207A>T p.D24736V Missense 326/363 - 1
2-179436671-C-T c.74188G>A p.G24730S Missense 326/363 - 1
2-179436688-G-A c.74171C>T p.T24724I Missense 326/363 - 1
2-179436701-G-A c.74158C>T p.L24720F Missense 326/363 - 1
2-179436747-A-C c.74112T>G p.S24704R Missense 326/363 - 1
2-179436779-C-T c.74080G>A p.E24694K Missense 326/363 - 1
2-179436785-G-A c.74074C>T p.Q24692* Nonsense 326/363 - 1
2-179436787-G-A c.74072C>T p.A24691V Missense 326/363 - 1
2-179436892-T-C c.73967A>G p.Q24656R Missense 326/363 - 1
2-179436901-A-AC c.73957dup p.V24653Gfs*9 Frameshift 326/363 - 1
2-179436908-A-G c.73951T>C p.Y24651H Missense 326/363 - 1
2-179436920-G-A c.73939C>T p.R24647* Nonsense 326/363 - 2
2-179436935-G-T c.73924C>A p.H24642N Missense 326/363 - 1
2-179436945-C-T c.73914G>A p.E24638= Synonymous 326/363 - 1
2-179436952-G-A c.73907C>T p.S24636F Missense 326/363 - 1
2-179436954-G-GA c.73904dup p.S24636Lfs*8 Frameshift 326/363 - 1
2-179436956-G-A c.73903C>T p.L24635F Missense 326/363 - 1
2-179436983-T-G c.73876A>C p.M24626L Missense 326/363 - 1
2-179436983-T-A c.73876A>T p.M24626L Missense 326/363 - 1
2-179437013-G-A c.73846C>T p.R24616* Nonsense 326/363 - 1
2-179437023-TTTCACAGA-T c.73828_73835del p.V24611Ifs*19 Frameshift 326/363 - 1
2-179437034-C-G c.73825G>C p.E24609Q Missense 326/363 - 2
2-179437036-G-A c.73823C>T p.A24608V Missense 326/363 - 1
2-179437061-C-T c.73798G>A p.G24600S Missense 326/363 - 1
2-179437076-C-T c.73783G>A p.A24595T Missense 326/363 - 1
2-179437093-T-C c.73766A>G p.Y24589C Missense 326/363 - 1
2-179437101-G-GC c.73757dup p.C24587Lfs*2 Frameshift 326/363 - 1
2-179437174-G-C c.73685C>G p.T24562R Missense 326/363 - 1
2-179437269-C-G c.73590G>C p.E24530D Missense 326/363 - 1
2-179437269-C-A c.73590G>T p.E24530D Missense 326/363 - 1
2-179437292-G-C c.73567C>G p.P24523A Missense 326/363 - 1
2-179437290-TG-T c.73568del p.P24523Hfs*4 Frameshift 326/363 - 1
2-179437313-C-T c.73546G>A p.V24516I Missense 326/363 - 1
2-179437424-T-C c.73435A>G p.S24479G Missense 326/363 - 1
2-179437468-CG-C c.73390del p.R24464Gfs*7 Frameshift 326/363 - 1
2-179437478-T-TC c.73380dup p.K24461Efs*12 Frameshift 326/363 - 1
2-179437523-G-A c.73336C>T p.L24446= Synonymous 326/363 - 1
2-179437555-C-A c.73304G>T p.R24435L Missense 326/363 - 1
2-179437580-C-T c.73279G>A p.E24427K Missense 326/363 - 1
2-179437596-G-C c.73263C>G p.D24421E Missense 326/363 - 1
2-179437644-T-G c.73215A>C p.E24405D Missense 326/363 - 1
2-179437644-T-A c.73215A>T p.E24405D Missense 326/363 - 1
2-179437648-G-A c.73211C>T p.S24404F Missense 326/363 - 1
2-179437649-A-G c.73210T>C p.S24404P Missense 326/363 - 1
2-179437670-AT-A c.73189del p.I24397Sfs*6 Frameshift 326/363 - 1
2-179437757-C-T c.73102G>A p.D24368N Missense 326/363 - 1
2-179437781-C-T c.73078G>A p.V24360I Missense 326/363 - 1
2-179437786-T-A c.73073A>T p.Y24358F Missense 326/363 - 1
2-179437800-T-A c.73059A>T p.S24353= Synonymous 326/363 - 1
2-179437800-T-C c.73059A>G p.S24353= Synonymous 326/363 - 1
2-179437800-T-G c.73059A>C p.S24353= Synonymous 326/363 - 1
2-179437804-C-G c.73055G>C p.G24352A Missense 326/363 - 1
2-179437818-A-T c.73041T>A p.P24347= Synonymous 326/363 - 1
2-179437832-C-T c.73027G>A p.A24343T Missense 326/363 - 1
2-179437868-G-A c.72991C>T p.R24331C Missense 326/363 - 1
2-179437892-T-C c.72967A>G p.K24323E Missense 326/363 - 1
2-179438003-C-A c.72856G>T p.G24286* Nonsense 326/363 - 1
2-179438035-T-A c.72824A>T p.K24275I Missense 326/363 - 1
2-179438045-CA-C c.72814del p.C24272Afs*9 Frameshift 326/363 - 1
2-179438076-GCCGTTCC-G c.72777_72783del p.E24260Vfs*19 Frameshift 326/363 - 1
2-179438093-T-C c.72766A>G p.N24256D Missense 326/363 - 1
2-179438131-C-T c.72728G>A p.W24243* Nonsense 326/363 - 1
2-179438130-C-T c.72729G>A p.W24243* Nonsense 326/363 - 1
2-179438189-C-A c.72670G>T p.D24224Y Missense 326/363 - 1
2-179438190-CA-C c.72669del p.D24224Ifs*8 Frameshift 326/363 - 1
2-179438195-G-A c.72664C>T p.P24222S Missense 326/363 - 1
2-179438201-A-T c.72658T>A p.Y24220N Missense 326/363 - 1
2-179438235-T-C c.72624A>G p.P24208= Synonymous 326/363 - 1
2-179438261-C-G c.72598G>C p.V24200L Missense 326/363 - 1
2-179438437-A-G c.72422T>C p.V24141A Missense 326/363 - 1
2-179438465-C-T c.72394G>A p.V24132I Missense 326/363 - 1
2-179438626-TA-T c.72233del p.I24078Kfs*11 Frameshift 326/363 - 1
2-179438632-A-T c.72227T>A p.L24076* Nonsense 326/363 - 1
2-179438632-A-C c.72227T>G p.L24076* Nonsense 326/363 - 1
2-179438683-G-A c.72176C>T p.P24059L Missense 326/363 - 1
2-179438687-G-A c.72172C>T p.P24058S Missense 326/363 - 1
2-179438705-C-A c.72154G>T p.D24052Y Missense 326/363 - 1
2-179438754-A-G c.72105T>C p.F24035= Synonymous 326/363 - 1
2-179438755-A-C c.72104T>G p.F24035C Missense 326/363 - 1
2-179438767-A-G c.72092T>C p.V24031A Missense 326/363 - 1
2-179438820-C-A c.72039G>T p.E24013D Missense 326/363 - 1
2-179438823-A-G c.72036T>C p.S24012= Synonymous 326/363 - 1
2-179438826-T-C c.72033A>G p.P24011= Synonymous 326/363 - 1
2-179438848-G-A c.72011C>T p.A24004V Missense 326/363 - 1
2-179438866-C-T c.71993G>A p.R23998H Missense 326/363 - 2
2-179438867-G-A c.71992C>T p.R23998C Missense 326/363 - 1
2-179438915-T-C c.71944A>G p.N23982D Missense 326/363 - 1
2-179438919-C-T c.71940G>A p.L23980= Synonymous 326/363 - 1
2-179438978-C-T c.71881G>A p.V23961I Missense 326/363 - 1
2-179439018-C-G c.71841G>C p.K23947N Missense 326/363 - 1
2-179439085-A-G c.71774T>C p.I23925T Missense 326/363 - 1
2-179439188-G-T c.71671C>A p.L23891I Missense 326/363 - 1
2-179439229-C-T c.71630G>A p.S23877N Missense 326/363 - 1
2-179439236-T-C c.71623A>G p.T23875A Missense 326/363 - 1
2-179439256-C-T c.71603G>A p.R23868Q Missense 326/363 - 1
2-179439257-G-A c.71602C>T p.R23868* Nonsense 326/363 - 1
2-179439296-C-A c.71563G>T p.G23855* Nonsense 326/363 - 1
2-179439314-C-A c.71545G>T p.E23849* Nonsense 326/363 - 1
2-179439359-G-A c.71500C>T p.Q23834* Nonsense 326/363 - 1
2-179439424-C-A c.71435G>T p.G23812V Missense 326/363 - 1
2-179439438-A-T c.71421T>A p.Y23807* Nonsense 326/363 - 1
2-179439438-A-C c.71421T>G p.Y23807* Nonsense 326/363 - 1
2-179439440-A-G c.71419T>C p.Y23807H Missense 326/363 - 1
2-179439490-C-T c.71369G>A p.R23790H Missense 326/363 - 1
2-179439491-G-A c.71368C>T p.R23790C Missense 326/363 - 1
2-179439496-G-A c.71363C>T p.A23788V Missense 326/363 - 1
2-179439498-T-A c.71361A>T p.K23787N Missense 326/363 - 1
2-179439505-G-A c.71354C>T p.T23785I Missense 326/363 - 1
2-179439511-C-T c.71348G>A p.R23783H Missense 326/363 - 1
2-179439513-TAT-AAA c.71344_71346delinsTTT p.I23782F Missense 326/363 - 2
2-179439533-C-A c.71326G>T p.E23776* Nonsense 326/363 - 1
2-179439612-G-A c.71247C>T p.D23749= Synonymous 326/363 - 1
2-179439679-G-A c.71180C>T p.P23727L Missense 326/363 - 1
2-179439747-A-T c.71112T>A p.Y23704* Nonsense 326/363 - 1
2-179439776-C-A c.71083G>T p.E23695* Nonsense 326/363 - 1
2-179439802-G-A c.71057C>T p.A23686V Missense 326/363 - 1
2-179439831-CTGTT-C c.71024_71027del p.K23675Rfs*16 Frameshift 326/363 - 1
2-179439854-T-A c.71005A>T p.K23669* Nonsense 326/363 - 1
2-179439876-C-T c.70983G>A p.P23661= Synonymous 326/363 - 1
2-179439877-G-A c.70982C>T p.P23661L Missense 326/363 - 1
2-179439889-A-T c.70970T>A p.V23657E Missense 326/363 - 1
2-179439889-A-G c.70970T>C p.V23657A Missense 326/363 - 1
2-179439905-T-A c.70954A>T p.K23652* Nonsense 326/363 - 1
2-179439925-G-A c.70934C>T p.A23645V Missense 326/363 - 1
2-179440001-T-A c.70858A>T p.R23620* Nonsense 326/363 - 1
2-179440029-G-A c.70830C>T p.S23610= Synonymous 326/363 - 1
2-179440042-A-G c.70817T>C p.M23606T Missense 326/363 - 1
2-179440106-C-T c.70753G>A p.V23585M Missense 326/363 - 1
2-179440127-G-T c.70732C>A p.Q23578K Missense 326/363 - 1
2-179440149-T-G c.70710A>C p.E23570D Missense 326/363 - 1
2-179440159-T-G c.70700A>C p.Y23567S Missense 326/363 - 1
2-179440163-C-G c.70696G>C p.G23566R Missense 326/363 - 2
2-179440208-G-A c.70651C>T p.L23551= Synonymous 326/363 - 1
2-179440219-C-G c.70640G>C p.S23547T Missense 326/363 - 1
2-179440255-G-A c.70604C>T p.P23535L Missense 326/363 - 1
2-179440319-C-A c.70540G>T p.E23514* Nonsense 326/363 - 1
2-179440335-TCT-ACA c.70522_70524delinsTGT p.R23508C Missense 326/363 - 1
2-179440353-C-A c.70506G>T p.G23502= Synonymous 326/363 - 1
2-179440367-C-T c.70492G>A p.G23498S Missense 326/363 - 1
2-179440379-A-G c.70480T>C p.Y23494H Missense 326/363 - 1
2-179440403-T-G c.70456A>C p.T23486P Missense 326/363 - 1
2-179440421-T-TA c.70437_70438insT p.K23480* Nonsense 326/363 - 1
2-179440422-CC-AT c.70436_70437delinsAT p.R23479H Missense 326/363 - 1
2-179440436-G-A c.70423C>T p.R23475C Missense 326/363 - 1
2-179440442-C-T c.70417G>A p.E23473K Missense 326/363 - 1
2-179440480-A-C c.70379T>G p.L23460R Missense 326/363 - 1
2-179440494-G-C c.70365C>G p.H23455Q Missense 326/363 - 1
2-179440510-T-A c.70349A>T p.D23450V Missense 326/363 - 1
2-179440585-C-G c.70274G>C p.S23425T Missense 326/363 - 1
2-179440595-C-A c.70264G>T p.G23422W Missense 326/363 - 1
2-179440602-G-C c.70257C>G p.N23419K Missense 326/363 - 1
2-179440602-G-T c.70257C>A p.N23419K Missense 326/363 - 1
2-179440665-A-G c.70194T>C p.T23398= Synonymous 326/363 - 1
2-179440687-A-G c.70172T>C p.I23391T Missense 326/363 - 1
2-179440697-G-A c.70162C>T p.R23388* Nonsense 326/363 - 1
2-179440748-G-A c.70111C>T p.R23371C Missense 326/363 - 1
2-179440750-C-G c.70109G>C p.G23370A Missense 326/363 - 1
2-179440757-T-C c.70102A>G p.I23368V Missense 326/363 - 1
2-179440796-C-A c.70063G>T p.V23355F Missense 326/363 - 1
2-179440796-C-G c.70063G>C p.V23355L Missense 326/363 - 1
2-179440822-A-T c.70037T>A p.L23346Q Missense 326/363 - 1
2-179440844-C-T c.70015G>A p.E23339K Missense 326/363 - 1
2-179440844-C-G c.70015G>C p.E23339Q Missense 326/363 - 1
2-179440853-C-T c.70006G>A p.V23336I Missense 326/363 - 1
2-179440883-C-A c.69976G>T p.E23326* Nonsense 326/363 - 1
2-179440955-C-T c.69904G>A p.V23302I Missense 326/363 - 1
2-179440956-G-T c.69903C>A p.F23301L Missense 326/363 - 1
2-179440966-A-G c.69893T>C p.I23298T Missense 326/363 - 1
2-179441086-G-T c.69773C>A p.S23258Y Missense 326/363 - 1
2-179441101-G-A c.69758C>T p.T23253I Missense 326/363 - 1
2-179441122-T-C c.69737A>G p.N23246S Missense 326/363 - 1
2-179441142-A-T c.69717T>A p.Y23239* Nonsense 326/363 - 1
2-179441142-A-C c.69717T>G p.Y23239* Nonsense 326/363 - 1
2-179441279-G-A c.69692C>T p.S23231F Missense 325/363 - 1
2-179441283-C-A c.69688G>T p.D23230Y Missense 325/363 - 1
2-179441292-TCAC-T c.69677_69679del p.S23226_E23227delinsK MultiAAMissense 325/363 - 1
2-179441295-T-C c.69676A>G p.S23226G Missense 325/363 - 2
2-179441299-TG-T c.69671del p.P23224Hfs*10 Frameshift 325/363 - 1
2-179441303-C-G c.69668G>C p.G23223A Missense 325/363 - 1
2-179441321-T-C c.69650A>G p.E23217G Missense 325/363 - 1
2-179441324-G-GCTTTT c.69646_69647insAAAAG p.A23216Efs*20 Frameshift 325/363 - 1
2-179441325-C-T c.69646G>A p.A23216T Missense 325/363 - 1
2-179441367-T-C c.69604A>G p.T23202A Missense 325/363 - 1
2-179441463-C-T c.69508G>A p.E23170K Missense 325/363 - 1
2-179441513-T-G c.69458A>C p.K23153T Missense 325/363 - 1
2-179441540-T-C c.69431A>G p.E23144G Missense 325/363 - 1
2-179441545-AGGGC-GGGTCCTTTT c.69422_69426delinsAAAAGGACCC p.G23141Efs*38 Frameshift 325/363 - 1
2-179441549-C-CCTTTT c.69421_69422insAAAAG p.G23141Efs*38 Frameshift 325/363 - 1
2-179441551-CA-C c.69420del p.G23141Afs*36 Frameshift 325/363 - 1
2-179441659-C-G c.69403G>C p.D23135H Missense 324/363 - 1
2-179441730-GATGTACTCATTTC-G c.69320_69332del p.G23107Afs*7 Frameshift 324/363 - 1
2-179441767-G-T c.69295C>A p.H23099N Missense 324/363 - 1
2-179441812-G-A c.69250C>T p.R23084* Nonsense 324/363 - 1
2-179441830-C-A c.69232G>T p.E23078* Nonsense 324/363 - 1
2-179441857-C-T c.69205G>A p.G23069S Missense 324/363 - 1
2-179441869-A-AG c.69192dup p.E23066Gfs*8 Frameshift 324/363 - 1
2-179441875-G-A c.69187C>T p.P23063S Missense 324/363 - 1
2-179441887-G-A c.69175C>T p.L23059F Missense 324/363 - 1
2-179441917-T-C c.69145A>G p.I23049V Missense 324/363 - 1
2-179441932-G-A c.69130C>T p.P23044S Missense 324/363 - 3
2-179441946-T-A c.69116A>T p.D23039V Missense 324/363 - 1
2-179441978-C-T c.69084G>A p.T23028= Synonymous 324/363 - 1
2-179442017-C-T c.69045G>A p.A23015= Synonymous 324/363 - 1
2-179442018-G-A c.69044C>T p.A23015V Missense 324/363 - 1
2-179442051-A-C c.69011T>G p.M23004R Missense 324/363 - 1
2-179442081-G-A c.68981C>T p.T22994I Missense 324/363 - 2
2-179442150-AATGCTAAT-A c.68905_68912del p.I22969Sfs*18 Frameshift 324/363 - 1
2-179442198-C-G c.68864G>C p.G22955A Missense 324/363 - 1
2-179442329-C-T c.68824G>A p.E22942K Missense 323/363 - 1
2-179442339-C-G c.68814G>C p.K22938N Missense 323/363 - 1
2-179442339-C-A c.68814G>T p.K22938N Missense 323/363 - 1
2-179442383-C-T c.68770G>A p.A22924T Missense 323/363 - 1
2-179442431-C-T c.68722G>A p.E22908K Missense 323/363 - 1
2-179442490-C-T c.68663G>A p.W22888* Nonsense 323/363 - 1
2-179442489-C-T c.68664G>A p.W22888* Nonsense 323/363 - 1
2-179442512-G-T c.68641C>A p.R22881= Synonymous 323/363 - 1
2-179442577-G-A c.68576C>T p.T22859I Missense 323/363 - 2
2-179442624-GA-G c.68529del p.P22844Lfs*10 Frameshift 323/363 - 1
2-179442715-C-T c.68527G>A p.D22843N Missense 322/363 - 1
2-179442738-G-T c.68504C>A p.P22835H Missense 322/363 - 1
2-179442781-T-TGGC c.68460_68461insGCC p.A22820dup InFrameInsertion 322/363 - 1
2-179442782-TG-GT c.68459_68460delinsAC p.A22820D Missense 322/363 - 1
2-179442784-C-G c.68458G>C p.A22820P Missense 322/363 - 2
2-179442790-C-G c.68452G>C p.V22818L Missense 322/363 - 1
2-179442793-G-A c.68449C>T p.R22817* Nonsense 322/363 - 2
2-179442805-C-T c.68437G>A p.E22813K Missense 322/363 - 1
2-179442826-T-A c.68416A>T p.T22806S Missense 322/363 - 1
2-179442875-C-T c.68367G>A p.L22789= Synonymous 322/363 - 1
2-179443406-T-TCGG c.68260_68261insCCG p.V22753_D22754insA InFrameInsertion 321/363 - 1
2-179443532-C-T c.68224+1G>A - IntronicSNV - 320/362 1
2-179443540-A-G c.68217T>C p.H22739= Synonymous 320/363 - 1
2-179443542-G-A c.68215C>T p.H22739Y Missense 320/363 - 1
2-179443620-C-A c.68137G>T p.E22713* Nonsense 320/363 - 1
2-179443625-C-G c.68132G>C p.G22711A Missense 320/363 - 1
2-179443655-G-A c.68102C>T p.T22701I Missense 320/363 - 1
2-179443678-C-T c.68079G>A p.T22693= Synonymous 320/363 - 1
2-179443701-A-T c.68056T>A p.S22686T Missense 320/363 - 1
2-179443707-T-A c.68050A>T p.R22684W Missense 320/363 - 1
2-179443728-T-C c.68029A>G p.T22677A Missense 320/363 - 1
2-179443735-CA-C c.68022del p.E22675Kfs*7 Frameshift 320/363 - 1
2-179443738-AC-A c.68018del p.G22673Vfs*9 Frameshift 320/363 - 1
2-179443758-G-A c.67999C>T p.P22667S Missense 320/363 - 1
2-179443797-C-G c.67960G>C p.D22654H Missense 320/363 - 1
2-179443798-A-T c.67959T>A p.F22653L Missense 320/363 - 1
2-179443807-T-G c.67950A>C p.P22650= Synonymous 320/363 - 1
2-179443824-C-A c.67933G>T p.G22645C Missense 320/363 - 1
2-179443833-C-G c.67924G>C p.G22642R Missense 320/363 - 1
2-179443870-A-AGCG c.67886_67887insCGC p.A22629dup InFrameInsertion 320/363 - 1
2-179443878-T-A c.67879A>T p.N22627Y Missense 320/363 - 1
2-179443949-G-A c.67808C>T p.A22603V Missense 320/363 - 1
2-179444000-T-G c.67757A>C p.K22586T Missense 320/363 - 1
2-179444006-C-T c.67751G>A p.W22584* Nonsense 320/363 - 2
2-179444005-C-T c.67752G>A p.W22584* Nonsense 320/363 - 1
2-179444012-GA-G c.67745del p.V22582Afs*10 Frameshift 320/363 - 3
2-179444031-C-T c.67726G>A p.G22576S Missense 320/363 - 1
2-179444070-T-A c.67687A>T p.K22563* Nonsense 320/363 - 1
2-179444319-G-C c.67605C>G p.S22535R Missense 319/363 - 1
2-179444353-C-T c.67571G>A p.S22524N Missense 319/363 - 1
2-179444363-A-G c.67561T>C p.F22521L Missense 319/363 - 1
2-179444390-C-A c.67534G>T p.D22512Y Missense 319/363 - 1
2-179444405-G-A c.67519C>T p.Q22507* Nonsense 319/363 - 2
2-179444429-G-A c.67495C>T p.R22499* Nonsense 319/363 - 3
2-179444479-C-T c.67445G>A p.R22482Q Missense 319/363 - 1
2-179444665-C-T c.67348+1G>A - IntronicSNV - 318/362 1
2-179444696-C-T c.67318G>A p.G22440S Missense 318/363 - 1
2-179444725-G-T c.67289C>A p.A22430D Missense 318/363 - 1
2-179444735-G-A c.67279C>T p.R22427* Nonsense 318/363 - 1
2-179444738-A-G c.67276T>C p.F22426L Missense 318/363 - 1
2-179444736-G-T c.67278C>A p.F22426L Missense 318/363 - 1
2-179444736-G-C c.67278C>G p.F22426L Missense 318/363 - 1
2-179444768-C-G c.67246G>C p.A22416P Missense 318/363 - 6
2-179444845-A-G c.67169T>C p.V22390A Missense 318/363 - 1
2-179444888-C-T c.67126G>A p.E22376K Missense 318/363 - 1
2-179444910-T-G c.67104A>C p.K22368N Missense 318/363 - 2
2-179444910-T-A c.67104A>T p.K22368N Missense 318/363 - 2
2-179444924-TA-T c.67089del p.K22364Rfs*24 Frameshift 318/363 - 1
2-179444939-C-T c.67075G>A p.V22359I Missense 318/363 - 3
2-179445099-A-T c.67007T>A p.L22336Q Missense 317/363 - 1
2-179445129-T-C c.66977A>G p.K22326R Missense 317/363 - 1
2-179445166-C-A c.66940G>T p.D22314Y Missense 317/363 - 1
2-179445173-CTT-C c.66931_66932del p.K22311Vfs*3 Frameshift 317/363 - 1
2-179445222-C-T c.66884G>A p.W22295* Nonsense 317/363 - 1
2-179445259-C-T c.66847G>A p.V22283I Missense 317/363 - 1
2-179445298-TCTTC-T c.66804_66807del p.K22269Hfs*10 Frameshift 317/363 - 1
2-179445328-C-T c.66778G>A p.E22260K Missense 317/363 - 1
2-179446218-ATACT-A c.66769+4_66769+7del - IntronicDeletion 316/363 316/362 1
2-179446247-G-T c.66748C>A p.H22250N Missense 316/363 - 1
2-179446292-C-T c.66703G>A p.V22235I Missense 316/363 - 1
2-179446300-A-T c.66695T>A p.V22232E Missense 316/363 - 3
2-179446303-C-T c.66692G>A p.R22231H Missense 316/363 - 1
2-179446316-G-A c.66679C>T p.Q22227* Nonsense 316/363 - 1
2-179446337-T-C c.66658A>G p.T22220A Missense 316/363 - 1
2-179446377-G-T c.66618C>A p.C22206* Nonsense 316/363 - 1
2-179446381-C-T c.66614G>A p.R22205K Missense 316/363 - 1
2-179446415-C-T c.66580G>A p.E22194K Missense 316/363 - 1
2-179446433-T-C c.66562A>G p.I22188V Missense 316/363 - 1
2-179446470-T-TA c.66524dup p.S22176Ifs*8 Frameshift 316/363 - 1
2-179446496-C-CA c.66498dup p.D22167* Nonsense 316/363 - 1
2-179446656-G-A c.66440C>T p.A22147V Missense 315/363 - 1
2-179446671-C-T c.66425G>A p.S22142N Missense 315/363 - 1
2-179446693-T-A c.66403A>T p.K22135* Nonsense 315/363 - 1
2-179446708-C-G c.66388G>C p.V22130L Missense 315/363 - 1
2-179446720-A-G c.66376T>C p.Y22126H Missense 315/363 - 1
2-179446772-T-C c.66324A>G p.K22108= Synonymous 315/363 - 1
2-179446783-C-T c.66313G>A p.V22105I Missense 315/363 - 1
2-179446790-C-A c.66306G>T p.W22102C Missense 315/363 - 1
2-179446810-C-G c.66286G>C p.E22096Q Missense 315/363 - 1
2-179446811-C-A c.66285G>T p.R22095= Synonymous 315/363 - 1
2-179446813-G-A c.66283C>T p.R22095W Missense 315/363 - 1
2-179446864-G-A c.66232C>T p.P22078S Missense 315/363 - 1
2-179446893-G-A c.66203C>T p.T22068I Missense 315/363 - 1
2-179446909-C-G c.66187G>C p.V22063L Missense 315/363 - 1
2-179447004-C-T c.66160+19G>A - IntronicSNV - 314/362 1
2-179447049-T-C c.66134A>G p.E22045G Missense 314/363 - 1
2-179447062-G-A c.66121C>T p.P22041S Missense 314/363 - 1
2-179447097-C-T c.66086G>A p.R22029H Missense 314/363 - 2
2-179447172-G-A c.66011C>T p.A22004V Missense 314/363 - 1
2-179447227-A-G c.65956T>C p.S21986P Missense 314/363 - 1
2-179447292-T-C c.65891A>G p.K21964R Missense 314/363 - 1
2-179447305-G-C c.65878C>G p.P21960A Missense 314/363 - 1
2-179447313-G-A c.65870C>T p.P21957L Missense 314/363 - 1
2-179447755-G-A c.65775C>T p.S21925= Synonymous 313/363 - 1
2-179447784-G-A c.65746C>T p.R21916W Missense 313/363 - 2
2-179447787-G-T c.65743C>A p.Q21915K Missense 313/363 - 1
2-179447793-C-A c.65737G>T p.A21913S Missense 313/363 - 1
2-179447801-A-G c.65729T>C p.I21910T Missense 313/363 - 1
2-179447820-G-T c.65710C>A p.L21904I Missense 313/363 - 1
2-179447847-AC-A c.65683del p.V21895Ffs*10 Frameshift 313/363 - 1
2-179447848-T-C c.65682A>G p.T21894= Synonymous 313/363 - 1
2-179447932-A-AC c.65597dup p.S21866Rfs*15 Frameshift 313/363 - 1
2-179448332-A-C c.65575+2T>G - IntronicSNV - 312/362 1
2-179448375-G-A c.65534C>T p.P21845L Missense 312/363 - 2
2-179448374-AG-A c.65534del p.P21845Lfs*8 Frameshift 312/363 - 1
2-179448392-C-T c.65517G>A p.A21839= Synonymous 312/363 - 1
2-179448392-C-G c.65517G>C p.A21839= Synonymous 312/363 - 1
2-179448392-C-A c.65517G>T p.A21839= Synonymous 312/363 - 1
2-179448393-G-A c.65516C>T p.A21839V Missense 312/363 - 1
2-179448394-C-T c.65515G>A p.A21839T Missense 312/363 - 1
2-179448406-T-C c.65503A>G p.I21835V Missense 312/363 - 1
2-179448410-T-C c.65499A>G p.R21833= Synonymous 312/363 - 1
2-179448450-G-A c.65459C>T p.T21820I Missense 312/363 - 1
2-179448559-C-T c.65350G>A p.D21784N Missense 312/363 - 1
2-179448585-G-A c.65324C>T p.S21775F Missense 312/363 - 1
2-179448588-A-G c.65321T>C p.V21774A Missense 312/363 - 1
2-179448590-A-G c.65319T>C p.T21773= Synonymous 312/363 - 1
2-179448630-G-A c.65279C>T p.P21760L Missense 312/363 - 1
2-179448631-G-T c.65278C>A p.P21760T Missense 312/363 - 1
2-179449121-A-T c.65157T>A p.Y21719* Nonsense 311/363 - 1
2-179449131-G-A c.65147C>T p.S21716L Missense 311/363 - 2
2-179449134-C-T c.65144G>A p.R21715Q Missense 311/363 - 1
2-179449134-C-A c.65144G>T p.R21715L Missense 311/363 - 1
2-179449186-G-A c.65092C>T p.R21698C Missense 311/363 - 1
2-179449256-G-A c.65022C>T p.D21674= Synonymous 311/363 - 1
2-179449266-A-T c.65012T>A p.V21671D Missense 311/363 - 1
2-179449297-T-C c.64981A>G p.S21661G Missense 311/363 - 1
2-179449305-C-T c.64973G>A p.G21658D Missense 311/363 - 1
2-179449410-CG-C c.64958del p.A21653Gfs*43 Frameshift 310/363 - 1
2-179449453-G-A c.64915C>T p.R21639* Nonsense 310/363 - 1
2-179449475-G-A c.64893C>T p.I21631= Synonymous 310/363 - 1
2-179449555-C-A c.64813G>T p.G21605C Missense 310/363 - 1
2-179449558-G-A c.64810C>T p.R21604* Nonsense 310/363 - 1
2-179449578-A-T c.64790T>A p.V21597E Missense 310/363 - 1
2-179449579-C-T c.64789G>A p.V21597M Missense 310/363 - 2
2-179449581-A-G c.64787T>C p.I21596T Missense 310/363 - 1
2-179449599-CT-AA c.64768_64769delinsTT p.S21590F Missense 310/363 - 1
2-179449606-C-T c.64762G>A p.G21588R Missense 310/363 - 1
2-179449612-C-T c.64756G>A p.E21586K Missense 310/363 - 1
2-179449618-G-C c.64750C>G p.P21584A Missense 310/363 - 1
2-179449663-T-G c.64705A>C p.I21569L Missense 310/363 - 1
2-179449678-G-A c.64690C>T p.Q21564* Nonsense 310/363 - 1
2-179449681-G-C c.64687C>G p.P21563A Missense 310/363 - 1
2-179449687-C-T c.64681G>A p.G21561S Missense 310/363 - 1
2-179449688-G-C c.64680C>G p.P21560= Synonymous 310/363 - 1
2-179449688-G-A c.64680C>T p.P21560= Synonymous 310/363 - 1
2-179449693-C-T c.64675G>A p.A21559T Missense 310/363 - 1
2-179449817-T-C c.64654A>G p.I21552V Missense 309/363 - 1
2-179449864-T-C c.64607A>G p.Y21536C Missense 309/363 - 1
2-179449894-A-G c.64577T>C p.I21526T Missense 309/363 - 1
2-179449949-C-T c.64522G>A p.V21508I Missense 309/363 - 1
2-179450018-G-A c.64453C>T p.R21485* Nonsense 309/363 - 1
2-179450056-A-T c.64415T>A p.M21472K Missense 309/363 - 1
2-179450060-G-GA c.64410_64411insT p.L21471Sfs*17 Frameshift 309/363 - 1
2-179451259-C-T c.64369G>A p.G21457R Missense 308/363 - 1
2-179451259-C-G c.64369G>C p.G21457R Missense 308/363 - 1
2-179451273-G-A c.64355C>T p.P21452L Missense 308/363 - 1
2-179451280-T-C c.64348A>G p.S21450G Missense 308/363 - 1
2-179451295-T-A c.64333A>T p.N21445Y Missense 308/363 - 1
2-179451297-C-G c.64331G>C p.R21444T Missense 308/363 - 1
2-179451345-A-G c.64283T>C p.V21428A Missense 308/363 - 1
2-179451346-CAACAAG-TA c.64276_64282delinsTA p.L21426Yfs*13 Frameshift 308/363 - 1
2-179451420-G-A c.64208C>T p.T21403I Missense 308/363 - 4
2-179451442-C-T c.64186G>A p.A21396T Missense 308/363 - 1
2-179451463-G-T c.64165C>A p.P21389T Missense 308/363 - 1
2-179451505-C-T c.64123G>A p.V21375M Missense 308/363 - 1
2-179451527-C-CTCAA c.64100_64101insTTGA p.D21368* Nonsense 308/363 - 2
2-179451906-G-A c.64032C>T p.N21344= Synonymous 307/363 - 1
2-179451927-G-T c.64011C>A p.Y21337* Nonsense 307/363 - 1
2-179451927-G-C c.64011C>G p.Y21337* Nonsense 307/363 - 1
2-179451932-A-C c.64006T>G p.Y21336D Missense 307/363 - 1
2-179451944-G-T c.63994C>A p.P21332T Missense 307/363 - 1
2-179451957-T-C c.63981A>G p.V21327= Synonymous 307/363 - 1
2-179451981-T-G c.63957A>C p.E21319D Missense 307/363 - 1
2-179451981-T-A c.63957A>T p.E21319D Missense 307/363 - 1
2-179451986-G-T c.63952C>A p.P21318T Missense 307/363 - 1
2-179451992-C-T c.63946G>A p.V21316I Missense 307/363 - 1
2-179452021-C-T c.63917G>A p.R21306H Missense 307/363 - 1
2-179452025-T-A c.63913A>T p.K21305* Nonsense 307/363 - 1
2-179452040-G-A c.63898C>T p.H21300Y Missense 307/363 - 1
2-179452051-C-T c.63887G>A p.S21296N Missense 307/363 - 1
2-179452053-C-G c.63885G>C p.G21295= Synonymous 307/363 - 1
2-179452053-C-A c.63885G>T p.G21295= Synonymous 307/363 - 1
2-179452053-C-T c.63885G>A p.G21295= Synonymous 307/363 - 1
2-179452062-G-A c.63876C>T p.N21292= Synonymous 307/363 - 1
2-179452087-T-TG c.63850dup p.H21284Pfs*8 Frameshift 307/363 - 1
2-179452245-A-T c.63791T>A p.L21264* Nonsense 306/363 - 1
2-179452275-T-C c.63761A>G p.E21254G Missense 306/363 - 1
2-179452279-C-A c.63757G>T p.G21253* Nonsense 306/363 - 1
2-179452378-C-T c.63658G>A p.G21220R Missense 306/363 - 1
2-179452407-T-A c.63629A>T p.K21210I Missense 306/363 - 1
2-179452435-G-A c.63601C>T p.R21201* Nonsense 306/363 - 1
2-179452450-C-T c.63586G>A p.A21196T Missense 306/363 - 1
2-179452455-A-G c.63581T>C p.L21194P Missense 306/363 - 1
2-179452458-C-T c.63578G>A p.R21193H Missense 306/363 - 2
2-179452465-G-T c.63571C>A p.P21191T Missense 306/363 - 1
2-179452509-A-G c.63527T>C p.L21176S Missense 306/363 - 1
2-179452658-TAGCTCTGCAGG-T c.63466_63476del p.P21156Kfs*7 Frameshift 305/363 - 1
2-179452665-C-T c.63469G>A p.A21157T Missense 305/363 - 1
2-179452671-G-A c.63463C>T p.R21155C Missense 305/363 - 1
2-179452695-C-T c.63439G>A p.A21147T Missense 305/363 - 2
2-179452764-G-A c.63370C>T p.Q21124* Nonsense 305/363 - 1
2-179452778-C-T c.63356G>A p.C21119Y Missense 305/363 - 1
2-179452811-G-T c.63323C>A p.A21108E Missense 305/363 - 1
2-179452823-C-G c.63311G>C p.R21104T Missense 305/363 - 1
2-179452867-GA-CT c.63266_63267delinsAG p.V21089E Missense 305/363 - 1
2-179452916-A-G c.63218T>C p.V21073A Missense 305/363 - 1
2-179453288-G-A c.63164C>T p.P21055L Missense 304/363 - 1
2-179453332-T-G c.63120A>C p.A21040= Synonymous 304/363 - 1
2-179453332-T-C c.63120A>G p.A21040= Synonymous 304/363 - 1
2-179453332-T-A c.63120A>T p.A21040= Synonymous 304/363 - 1
2-179453343-G-A c.63109C>T p.R21037C Missense 304/363 - 1
2-179453426-C-T c.63026G>A p.R21009Q Missense 304/363 - 1
2-179453427-G-A c.63025C>T p.R21009* Nonsense 304/363 - 1
2-179453429-G-A c.63023C>T p.T21008I Missense 304/363 - 3
2-179453457-A-C c.62995T>G p.F20999V Missense 304/363 - 1
2-179453495-G-A c.62957C>T p.P20986L Missense 304/363 - 1
2-179453509-AG-CT c.62942_62943inv p.T20981K Missense 304/363 - 1
2-179453510-G-T c.62942C>A p.T20981N Missense 304/363 - 1
2-179453623-T-A c.62829A>T p.K20943N Missense 304/363 - 1
2-179453670-G-A c.62782C>T p.L20928F Missense 304/363 - 1
2-179453705-G-T c.62747C>A p.A20916D Missense 304/363 - 1
2-179453719-C-T c.62733G>A p.W20911* Nonsense 304/363 - 1
2-179453750-A-T c.62702T>A p.L20901Q Missense 304/363 - 1
2-179453781-C-T c.62671G>A p.D20891N Missense 304/363 - 1
2-179453796-C-G c.62656G>C p.D20886H Missense 304/363 - 1
2-179453832-C-A c.62620G>T p.V20874F Missense 304/363 - 1
2-179453885-T-C c.62567A>G p.Y20856C Missense 304/363 - 1
2-179453906-G-A c.62546C>T p.T20849M Missense 304/363 - 1
2-179453951-G-A c.62501C>T p.A20834V Missense 304/363 - 1
2-179453975-G-T c.62477C>A p.S20826* Nonsense 304/363 - 1
2-179453975-G-C c.62477C>G p.S20826* Nonsense 304/363 - 1
2-179454028-CG-C c.62424del p.D20808Efs*5 Frameshift 304/363 - 1
2-179454068-C-T c.62384G>A p.G20795D Missense 304/363 - 1
2-179454076-C-A c.62376G>T p.G20792= Synonymous 304/363 - 1
2-179454089-C-A c.62363G>T p.R20788M Missense 304/363 - 1
2-179454135-G-C c.62317C>G p.L20773V Missense 304/363 - 1
2-179454136-GATCAA-G c.62312_62316del p.L20771Pfs*16 Frameshift 304/363 - 1
2-179454191-C-T c.62261G>A p.W20754* Nonsense 304/363 - 1
2-179454190-C-T c.62262G>A p.W20754* Nonsense 304/363 - 1
2-179454210-C-T c.62242G>A p.E20748K Missense 304/363 - 1
2-179454215-T-G c.62237A>C p.K20746T Missense 304/363 - 1
2-179454267-T-C c.62185A>G p.M20729V Missense 304/363 - 3
2-179454274-A-G c.62178T>C p.T20726= Synonymous 304/363 - 1
2-179454290-C-A c.62162G>T p.G20721V Missense 304/363 - 1
2-179454298-CAC-GAT c.62152_62154delinsATC p.V20718I Missense 304/363 - 2
2-179454315-C-T c.62137G>A p.D20713N Missense 304/363 - 1
2-179454379-C-T c.62073G>A p.R20691= Synonymous 304/363 - 1
2-179454381-T-G c.62071A>C p.R20691= Synonymous 304/363 - 1
2-179454394-A-G c.62058T>C p.Y20686= Synonymous 304/363 - 1
2-179454398-A-G c.62054T>C p.V20685A Missense 304/363 - 1
2-179454408-T-C c.62044A>G p.K20682E Missense 304/363 - 1
2-179454528-C-T c.61924G>A p.V20642I Missense 304/363 - 1
2-179454530-C-T c.61922G>A p.R20641Q Missense 304/363 - 1
2-179454537-A-G c.61915T>C p.Y20639H Missense 304/363 - 1
2-179454576-G-A c.61876C>T p.R20626* Nonsense 304/363 - 2
2-179454599-A-G c.61853T>C p.I20618T Missense 304/363 - 1
2-179454605-C-T c.61847G>A p.W20616* Nonsense 304/363 - 1
2-179454604-C-T c.61848G>A p.W20616* Nonsense 304/363 - 1
2-179454639-T-C c.61813A>G p.I20605V Missense 304/363 - 1
2-179454659-C-T c.61793G>A p.G20598D Missense 304/363 - 1
2-179454710-A-G c.61742T>C p.V20581A Missense 304/363 - 1
2-179454753-G-A c.61699C>T p.L20567F Missense 304/363 - 1
2-179454756-C-T c.61696G>A p.V20566I Missense 304/363 - 1
2-179454818-C-T c.61634G>A p.G20545D Missense 304/363 - 1
2-179454837-C-A c.61615G>T p.A20539S Missense 304/363 - 1
2-179454896-C-T c.61556G>A p.R20519Q Missense 304/363 - 1
2-179454972-T-G c.61480A>C p.I20494L Missense 304/363 - 1
2-179454992-G-C c.61460C>G p.T20487S Missense 304/363 - 1
2-179454993-T-A c.61459A>T p.T20487S Missense 304/363 - 1
2-179455089-C-G c.61363G>C p.E20455Q Missense 304/363 - 1
2-179455112-AT-TA c.61339_61340delinsTA p.I20447* Nonsense 304/363 - 1
2-179455160-G-A c.61292C>T p.A20431V Missense 304/363 - 1
2-179455173-T-G c.61279A>C p.I20427L Missense 304/363 - 1
2-179455174-GAGTTCATCTTT-G c.61267_61277del p.K20423Hfs*2 Frameshift 304/363 - 1
2-179455207-T-C c.61245A>G p.T20415= Synonymous 304/363 - 1
2-179455301-C-A c.61151G>T p.S20384I Missense 304/363 - 1
2-179455331-G-A c.61121C>T p.P20374L Missense 304/363 - 1
2-179455340-G-A c.61112C>T p.P20371L Missense 304/363 - 1
2-179455353-G-A c.61099C>T p.R20367W Missense 304/363 - 1
2-179455379-G-A c.61073C>T p.P20358L Missense 304/363 - 1
2-179455413-C-A c.61039G>T p.A20347S Missense 304/363 - 1
2-179455423-A-G c.61029T>C p.F20343= Synonymous 304/363 - 1
2-179455452-C-T c.61000G>A p.G20334R Missense 304/363 - 1
2-179455452-C-G c.61000G>C p.G20334R Missense 304/363 - 1
2-179455518-C-T c.60934G>A p.E20312K Missense 304/363 - 1
2-179455562-G-A c.60890C>T p.S20297F Missense 304/363 - 1
2-179455578-A-G c.60874T>C p.W20292R Missense 304/363 - 1
2-179455631-G-A c.60821C>T p.P20274L Missense 304/363 - 1
2-179455634-G-A c.60818C>T p.S20273F Missense 304/363 - 2
2-179455634-G-T c.60818C>A p.S20273Y Missense 304/363 - 1
2-179455646-A-G c.60806T>C p.F20269S Missense 304/363 - 1
2-179455718-C-T c.60734G>A p.R20245Q Missense 304/363 - 1
2-179455719-G-A c.60733C>T p.R20245* Nonsense 304/363 - 1
2-179455763-T-C c.60689A>G p.K20230R Missense 304/363 - 1
2-179455777-T-TC c.60674dup p.S20226Kfs*3 Frameshift 304/363 - 1
2-179455796-C-T c.60656G>A p.W20219* Nonsense 304/363 - 1
2-179455795-C-T c.60657G>A p.W20219* Nonsense 304/363 - 1
2-179455808-C-A c.60644G>T p.R20215M Missense 304/363 - 1
2-179455831-A-T c.60621T>A p.Y20207* Nonsense 304/363 - 1
2-179455831-A-C c.60621T>G p.Y20207* Nonsense 304/363 - 1
2-179455845-G-A c.60607C>T p.P20203S Missense 304/363 - 1
2-179455874-C-T c.60578G>A p.W20193* Nonsense 304/363 - 1
2-179455873-C-T c.60579G>A p.W20193* Nonsense 304/363 - 1
2-179455887-T-C c.60565A>G p.M20189V Missense 304/363 - 1
2-179455928-G-A c.60524C>T p.P20175L Missense 304/363 - 1
2-179455952-G-C c.60500C>G p.T20167S Missense 304/363 - 1
2-179455958-T-C c.60494A>G p.H20165R Missense 304/363 - 1
2-179455962-C-G c.60490G>C p.V20164L Missense 304/363 - 1
2-179455970-G-A c.60482C>T p.T20161I Missense 304/363 - 1
2-179455980-C-G c.60472G>C p.G20158R Missense 304/363 - 1
2-179456050-TG-AA c.60401_60402delinsTT p.S20134F Missense 304/363 - 1
2-179456085-C-T c.60367G>A p.E20123K Missense 304/363 - 1
2-179456100-C-A c.60352G>T p.E20118* Nonsense 304/363 - 1
2-179456138-A-C c.60314T>G p.V20105G Missense 304/363 - 1
2-179456140-A-G c.60312T>C p.G20104= Synonymous 304/363 - 1
2-179456154-C-T c.60298G>A p.A20100T Missense 304/363 - 1
2-179456210-T-C c.60242A>G p.D20081G Missense 304/363 - 1
2-179456220-C-T c.60232G>A p.V20078M Missense 304/363 - 1
2-179456229-G-A c.60223C>T p.P20075S Missense 304/363 - 1
2-179456348-C-T c.60198G>A p.P20066= Synonymous 303/363 - 1
2-179456366-G-T c.60180C>A p.L20060= Synonymous 303/363 - 1
2-179456419-C-A c.60127G>T p.G20043* Nonsense 303/363 - 1
2-179456499-T-C c.60047A>G p.Y20016C Missense 303/363 - 1
2-179456541-T-C c.60005A>G p.D20002G Missense 303/363 - 1
2-179456560-G-C c.59986C>G p.L19996V Missense 303/363 - 1
2-179456590-G-A c.59956C>T p.H19986Y Missense 303/363 - 1
2-179456603-G-T c.59943C>A p.P19981= Synonymous 303/363 - 1
2-179456704-C-T c.59926+1G>A - IntronicSNV - 302/362 1
2-179456711-G-T c.59920C>A p.P19974T Missense 302/363 - 1
2-179456735-G-A c.59896C>T p.P19966S Missense 302/363 - 1
2-179456737-G-A c.59894C>T p.T19965I Missense 302/363 - 1
2-179456756-G-A c.59875C>T p.R19959C Missense 302/363 - 1
2-179456758-C-T c.59873G>A p.G19958E Missense 302/363 - 1
2-179456783-G-A c.59848C>T p.R19950* Nonsense 302/363 - 1
2-179456791-T-A c.59840A>T p.Y19947F Missense 302/363 - 1
2-179456819-C-T c.59812G>A p.A19938T Missense 302/363 - 1
2-179456862-C-T c.59769G>A p.Q19923= Synonymous 302/363 - 1
2-179456864-G-A c.59767C>T p.Q19923* Nonsense 302/363 - 1
2-179456902-G-A c.59729C>T p.T19910I Missense 302/363 - 1
2-179456931-T-G c.59700A>C p.E19900D Missense 302/363 - 1
2-179456947-T-C c.59684A>G p.Y19895C Missense 302/363 - 1
2-179456997-A-G c.59634T>C p.P19878= Synonymous 302/363 - 1
2-179457144-G-T c.59588C>A p.A19863D Missense 301/363 - 1
2-179457147-G-A c.59585C>T p.P19862L Missense 301/363 - 3
2-179457162-A-G c.59570T>C p.L19857S Missense 301/363 - 1
2-179457163-A-T c.59569T>A p.L19857I Missense 301/363 - 1
2-179457169-A-T c.59563T>A p.Y19855N Missense 301/363 - 1
2-179457190-C-G c.59542G>C p.A19848P Missense 301/363 - 4
2-179457198-C-T c.59534G>A p.R19845H Missense 301/363 - 1
2-179457244-T-TA c.59487dup p.K19830* Nonsense 301/363 - 1
2-179457272-C-T c.59460G>A p.W19820* Nonsense 301/363 - 1
2-179457288-A-T c.59444T>A p.F19815Y Missense 301/363 - 1
2-179457293-C-T c.59439G>A p.V19813= Synonymous 301/363 - 1
2-179457327-TCA-T c.59403_59404del p.D19802Yfs*5 Frameshift 301/363 - 1
2-179457330-C-T c.59402G>A p.G19801D Missense 301/363 - 1
2-179457336-T-C c.59396A>G p.K19799R Missense 301/363 - 1
2-179457337-T-G c.59395A>C p.K19799Q Missense 301/363 - 1
2-179457367-C-G c.59365G>C p.D19789H Missense 301/363 - 1
2-179457367-C-A c.59365G>T p.D19789Y Missense 301/363 - 1
2-179457379-C-CA c.59352dup p.E19785* Nonsense 301/363 - 1
2-179457503-AAG-TTA c.59341_59343delinsTAA p.L19781* Nonsense 300/363 - 1
2-179457505-G-T c.59341C>A p.L19781I Missense 300/363 - 1
2-179457531-G-A c.59315C>T p.P19772L Missense 300/363 - 1
2-179457559-C-T c.59287G>A p.A19763T Missense 300/363 - 1
2-179457572-T-A c.59274A>T p.L19758F Missense 300/363 - 1
2-179457572-T-G c.59274A>C p.L19758F Missense 300/363 - 1
2-179457611-G-A c.59235C>T p.T19745= Synonymous 300/363 - 1
2-179457612-G-C c.59234C>G p.T19745S Missense 300/363 - 1
2-179457613-T-A c.59233A>T p.T19745S Missense 300/363 - 1
2-179457617-T-G c.59229A>C p.K19743N Missense 300/363 - 1
2-179457616-CTT-C c.59228_59229del p.K19743Sfs*11 Frameshift 300/363 - 1
2-179457641-AC-A c.59205del p.E19735Dfs*24 Frameshift 300/363 - 1
2-179457681-A-G c.59165T>C p.V19722A Missense 300/363 - 1
2-179457723-C-T c.59123G>A p.G19708D Missense 300/363 - 1
2-179457733-G-A c.59113C>T p.R19705C Missense 300/363 - 1
2-179457903-T-C c.59032A>G p.I19678V Missense 299/363 - 1
2-179457947-C-T c.58988G>A p.G19663E Missense 299/363 - 1
2-179457992-C-T c.58943G>A p.C19648Y Missense 299/363 - 1
2-179458002-G-A c.58933C>T p.L19645= Synonymous 299/363 - 1
2-179458005-G-T c.58930C>A p.L19644I Missense 299/363 - 1
2-179458065-G-A c.58870C>T p.R19624* Nonsense 299/363 - 1
2-179458185-TC-T c.58750del p.D19584Ifs*14 Frameshift 299/363 - 1
2-179458318-G-A c.58709C>T p.S19570L Missense 298/363 - 1
2-179458372-A-C c.58655T>G p.F19552C Missense 298/363 - 1
2-179458391-C-G c.58636G>C p.E19546Q Missense 298/363 - 1
2-179458406-CT-C c.58620del p.V19541Ffs*22 Frameshift 298/363 - 1
2-179458412-A-G c.58615T>C p.C19539R Missense 298/363 - 1
2-179458442-G-A c.58585C>T p.P19529S Missense 298/363 - 1
2-179458452-GTCTT-G c.58571_58574del p.K19524Tfs*6 Frameshift 298/363 - 1
2-179458473-C-G c.58554G>C p.E19518D Missense 298/363 - 1
2-179458473-C-A c.58554G>T p.E19518D Missense 298/363 - 1
2-179458500-G-A c.58527C>T p.G19509= Synonymous 298/363 - 1
2-179458511-C-T c.58516G>A p.D19506N Missense 298/363 - 1
2-179458536-C-G c.58491G>C p.M19497I Missense 298/363 - 1
2-179458536-C-T c.58491G>A p.M19497I Missense 298/363 - 1
2-179458536-C-A c.58491G>T p.M19497I Missense 298/363 - 1
2-179458563-A-C c.58464T>G p.S19488R Missense 298/363 - 1
2-179458563-A-T c.58464T>A p.S19488R Missense 298/363 - 1
2-179458565-T-G c.58462A>C p.S19488R Missense 298/363 - 1
2-179458571-G-T c.58456C>A p.P19486T Missense 298/363 - 1
2-179458591-C-T c.58436G>A p.R19479H Missense 298/363 - 4
2-179458701-T-C c.58419A>G p.Q19473= Synonymous 297/363 - 1
2-179458738-A-T c.58382T>A p.V19461E Missense 297/363 - 1
2-179458757-C-T c.58363G>A p.G19455S Missense 297/363 - 1
2-179458763-C-A c.58357G>T p.D19453Y Missense 297/363 - 1
2-179458788-T-A c.58332A>T p.L19444F Missense 297/363 - 1
2-179458788-T-G c.58332A>C p.L19444F Missense 297/363 - 1
2-179458808-T-A c.58312A>T p.T19438S Missense 297/363 - 1
2-179458822-G-A c.58298C>T p.T19433I Missense 297/363 - 1
2-179458829-C-G c.58291G>C p.D19431H Missense 297/363 - 1
2-179458832-C-T c.58288G>A p.D19430N Missense 297/363 - 1
2-179458860-C-G c.58260G>C p.W19420C Missense 297/363 - 1
2-179458860-C-A c.58260G>T p.W19420C Missense 297/363 - 1
2-179458918-C-G c.58202G>C p.G19401A Missense 297/363 - 1
2-179458948-GT-G c.58172del p.D19391Afs*45 Frameshift 297/363 - 1
2-179458949-C-T c.58171G>A p.D19391N Missense 297/363 - 1
2-179459084-G-A c.58137C>T p.C19379= Synonymous 296/363 - 1
2-179459088-G-C c.58133C>G p.T19378S Missense 296/363 - 1
2-179459130-A-T c.58091T>A p.I19364N Missense 296/363 - 1
2-179459232-T-A c.57989A>T p.K19330M Missense 296/363 - 1
2-179459233-T-G c.57988A>C p.K19330Q Missense 296/363 - 1
2-179459322-G-T c.57899C>A p.T19300N Missense 296/363 - 1
2-179459361-C-T c.57860G>A p.R19287H Missense 296/363 - 1
2-179460257-G-A c.57824C>T p.A19275V Missense 295/363 - 1
2-179460266-G-A c.57815C>T p.T19272I Missense 295/363 - 1
2-179460312-G-A c.57769C>T p.R19257* Nonsense 295/363 - 1
2-179460433-G-A c.57648C>T p.I19216= Synonymous 295/363 - 1
2-179460461-G-A c.57620C>T p.S19207F Missense 295/363 - 1
2-179460478-G-T c.57603C>A p.C19201* Nonsense 295/363 - 1
2-179460495-G-C c.57586C>G p.L19196V Missense 295/363 - 1
2-179460503-G-A c.57578C>T p.A19193V Missense 295/363 - 1
2-179461736-C-T c.57544+529G>A - IntronicSNV - 294/362 1
2-179462345-C-T c.57464G>A p.R19155K Missense 294/363 - 1
2-179462347-C-T c.57462G>A p.Q19154= Synonymous 294/363 - 1
2-179462391-C-T c.57418G>A p.E19140K Missense 294/363 - 1
2-179462433-A-T c.57376T>A p.W19126R Missense 294/363 - 1
2-179462433-A-G c.57376T>C p.W19126R Missense 294/363 - 1
2-179462439-C-T c.57370G>A p.V19124I Missense 294/363 - 1
2-179462494-A-G c.57315T>C p.H19105= Synonymous 294/363 - 1
2-179462499-C-T c.57310G>A p.V19104I Missense 294/363 - 1
2-179462509-A-C c.57300T>G p.D19100E Missense 294/363 - 1
2-179462517-C-T c.57292G>A p.V19098I Missense 294/363 - 1
2-179462665-T-G c.57232A>C p.T19078P Missense 293/363 - 1
2-179462757-T-G c.57140A>C p.K19047T Missense 293/363 - 1
2-179462776-T-C c.57121A>G p.K19041E Missense 293/363 - 1
2-179463259-C-T c.57085G>A p.E19029K Missense 292/363 - 1
2-179463286-C-T c.57058G>A p.V19020I Missense 292/363 - 1
2-179463292-A-C c.57052T>G p.S19018A Missense 292/363 - 1
2-179463370-G-A c.56974C>T p.P18992S Missense 292/363 - 1
2-179463486-C-T c.56951G>A p.R18984K Missense 291/363 - 1
2-179463487-T-C c.56950A>G p.R18984G Missense 291/363 - 1
2-179463496-C-G c.56941G>C p.A18981P Missense 291/363 - 1
2-179463504-G-A c.56933C>T p.S18978L Missense 291/363 - 1
2-179463552-C-T c.56885G>A p.R18962Q Missense 291/363 - 1
2-179463553-G-A c.56884C>T p.R18962W Missense 291/363 - 1
2-179463565-C-T c.56872G>A p.D18958N Missense 291/363 - 1
2-179463650-C-G c.56787G>C p.K18929N Missense 291/363 - 1
2-179463664-C-T c.56773G>A p.D18925N Missense 291/363 - 1
2-179463685-CCT-C c.56751_56752del p.G18918Vfs*17 Frameshift 291/363 - 1
2-179463698-G-A c.56739C>T p.G18913= Synonymous 291/363 - 1
2-179463698-G-C c.56739C>G p.G18913= Synonymous 291/363 - 1
2-179463698-G-T c.56739C>A p.G18913= Synonymous 291/363 - 1
2-179463730-C-CA c.56706dup p.V18903Cfs*9 Frameshift 291/363 - 1
2-179463733-T-C c.56704A>G p.T18902A Missense 291/363 - 1
2-179463735-A-G c.56702T>C p.M18901T Missense 291/363 - 1
2-179463751-C-T c.56686G>A p.V18896M Missense 291/363 - 1
2-179463775-G-C c.56662C>G p.P18888A Missense 291/363 - 1
2-179463782-A-G c.56655T>C p.P18885= Synonymous 291/363 - 1
2-179463783-G-C c.56654C>G p.P18885R Missense 291/363 - 1
2-179463872-C-T c.56647+1G>A - IntronicSNV - 290/362 1
2-179463888-C-T c.56632G>A p.A18878T Missense 290/363 - 1
2-179463929-T-G c.56591A>C p.K18864T Missense 290/363 - 1
2-179463948-G-A c.56572C>T p.R18858* Nonsense 290/363 - 1
2-179463953-A-T c.56567T>A p.V18856E Missense 290/363 - 1
2-179464098-G-A c.56422C>T p.P18808S Missense 290/363 - 1
2-179464293-GTCTCA-G c.56330_56334del p.M18777Tfs*17 Frameshift 289/363 - 1
2-179464422-GT-G c.56206del p.T18736Pfs*8 Frameshift 289/363 - 1
2-179464452-G-A c.56176C>T p.P18726S Missense 289/363 - 1
2-179464461-G-A c.56167C>T p.P18723S Missense 289/363 - 1
2-179464527-T-C c.56101A>G p.N18701D Missense 289/363 - 3
2-179465594-G-T c.56037C>A p.V18679= Synonymous 288/363 - 1
2-179465612-A-G c.56019T>C p.T18673= Synonymous 288/363 - 1
2-179465622-G-A c.56009C>T p.P18670L Missense 288/363 - 1
2-179465691-T-C c.55940A>G p.E18647G Missense 288/363 - 1
2-179465746-C-T c.55885G>A p.E18629K Missense 288/363 - 1
2-179465757-C-T c.55874G>A p.G18625E Missense 288/363 - 1
2-179465769-C-A c.55862G>T p.W18621L Missense 288/363 - 1
2-179465896-G-A c.55735C>T p.P18579S Missense 288/363 - 1
2-179466018-T-A c.55706A>T p.Q18569L Missense 287/363 - 1
2-179466045-C-T c.55679G>A p.G18560D Missense 287/363 - 1
2-179466065-C-T c.55659G>A p.V18553= Synonymous 287/363 - 1
2-179466171-T-C c.55553A>G p.K18518R Missense 287/363 - 1
2-179466201-C-G c.55523G>C p.G18508A Missense 287/363 - 1
2-179466209-G-A c.55515C>T p.D18505= Synonymous 287/363 - 1
2-179466380-C-G c.55432+5G>C - IntronicSNV - 286/362 1
2-179466411-G-A c.55406C>T p.T18469I Missense 286/363 - 1
2-179466452-G-T c.55365C>A p.G18455= Synonymous 286/363 - 1
2-179466466-G-A c.55351C>T p.R18451* Nonsense 286/363 - 1
2-179466477-G-A c.55340C>T p.P18447L Missense 286/363 - 1
2-179466495-G-C c.55322C>G p.S18441C Missense 286/363 - 1
2-179466629-C-T c.55282G>A p.D18428N Missense 285/363 - 1
2-179466778-G-T c.55220C>A p.T18407K Missense 284/363 - 1
2-179466803-G-A c.55195C>T p.P18399S Missense 284/363 - 1
2-179466840-G-C c.55158C>G p.D18386E Missense 284/363 - 1
2-179466840-G-T c.55158C>A p.D18386E Missense 284/363 - 1
2-179466859-A-G c.55139T>C p.I18380T Missense 284/363 - 1
2-179466872-G-A c.55126C>T p.P18376S Missense 284/363 - 1
2-179467129-A-G c.55000T>C p.C18334R Missense 283/363 - 1
2-179467156-G-A c.54973C>T p.P18325S Missense 283/363 - 1
2-179467241-T-A c.54888A>T p.P18296= Synonymous 283/363 - 1
2-179467241-T-C c.54888A>G p.P18296= Synonymous 283/363 - 1
2-179467241-T-G c.54888A>C p.P18296= Synonymous 283/363 - 1
2-179467243-G-C c.54886C>G p.P18296A Missense 283/363 - 2
2-179468617-G-A c.54797C>T p.A18266V Missense 282/363 - 1
2-179468640-ACT-TCA c.54772_54774delinsTGA p.S18258* Nonsense 282/363 - 1
2-179468666-T-G c.54748A>C p.N18250H Missense 282/363 - 1
2-179468673-C-T c.54741G>A p.M18247I Missense 282/363 - 1
2-179468704-A-G c.54710T>C p.L18237P Missense 282/363 - 3
2-179468768-C-T c.54646G>A p.V18216I Missense 282/363 - 1
2-179468778-A-C c.54636T>G p.Y18212* Nonsense 282/363 - 1
2-179468815-C-T c.54599G>A p.G18200D Missense 282/363 - 1
2-179468843-A-G c.54571T>C p.L18191= Synonymous 282/363 - 1
2-179468841-C-T c.54573G>A p.L18191= Synonymous 282/363 - 1
2-179468854-C-T c.54560G>A p.W18187* Nonsense 282/363 - 1
2-179468853-C-T c.54561G>A p.W18187* Nonsense 282/363 - 1
2-179468878-G-T c.54536C>A p.T18179N Missense 282/363 - 1
2-179468903-C-T c.54511G>A p.G18171R Missense 282/363 - 1
2-179468961-A-G c.54453T>C p.D18151= Synonymous 282/363 - 1
2-179468985-CTG-C c.54428_54429del p.A18143Gfs*3 Frameshift 282/363 - 1
2-179468995-C-T c.54419G>A p.R18140Q Missense 282/363 - 1
2-179469436-C-G c.54380G>C p.G18127A Missense 281/363 - 1
2-179469488-TC-T c.54327del p.K18110Rfs*13 Frameshift 281/363 - 1
2-179469500-C-T c.54316G>A p.D18106N Missense 281/363 - 1
2-179469503-G-A c.54313C>T p.R18105C Missense 281/363 - 1
2-179469586-A-T c.54230T>A p.I18077N Missense 281/363 - 1
2-179469592-G-A c.54224C>T p.T18075I Missense 281/363 - 1
2-179469622-C-T c.54194G>A p.R18065H Missense 281/363 - 1
2-179469756-G-A c.54148C>T p.R18050C Missense 280/363 - 2
2-179469794-C-T c.54110G>A p.R18037Q Missense 280/363 - 1
2-179469795-G-A c.54109C>T p.R18037W Missense 280/363 - 1
2-179469836-C-T c.54068G>A p.R18023Q Missense 280/363 - 1
2-179469942-C-T c.53962G>A p.A17988T Missense 280/363 - 1
2-179469957-G-A c.53947C>T p.P17983S Missense 280/363 - 1
2-179470001-C-T c.53903G>A p.R17968H Missense 280/363 - 2
2-179470020-G-A c.53884C>T p.P17962S Missense 280/363 - 1
2-179470136-C-T c.53881+5G>A - IntronicSNV - 279/362 1
2-179470189-C-T c.53833G>A p.E17945K Missense 279/363 - 1
2-179470216-G-A c.53806C>T p.R17936C Missense 279/363 - 1
2-179470222-C-T c.53800G>A p.E17934K Missense 279/363 - 1
2-179470305-T-C c.53717A>G p.K17906R Missense 279/363 - 1
2-179470358-ACTGCGGGG-A c.53656_53663del p.P17886* Frameshift 279/363 - 1
2-179471793-C-T c.53536G>A p.G17846S Missense 278/363 - 1
2-179471938-CT-C c.53391del p.G17798Afs*18 Frameshift 278/363 - 1
2-179471940-T-A c.53389A>T p.T17797S Missense 278/363 - 1
2-179471981-A-C c.53348T>G p.L17783R Missense 278/363 - 1
2-179472191-A-T c.53224T>A p.Y17742N Missense 277/363 - 1
2-179472209-G-A c.53206C>T p.R17736* Nonsense 277/363 - 2
2-179472223-A-G c.53192T>C p.I17731T Missense 277/363 - 1
2-179472237-T-G c.53178A>C p.K17726N Missense 277/363 - 1
2-179472248-C-T c.53167G>A p.V17723I Missense 277/363 - 2
2-179472259-A-G c.53156T>C p.V17719A Missense 277/363 - 1
2-179472266-G-A c.53149C>T p.R17717C Missense 277/363 - 1
2-179472268-T-TC c.53146dup p.D17716Gfs*13 Frameshift 277/363 - 1
2-179472292-T-A c.53123A>T p.K17708I Missense 277/363 - 1
2-179472335-C-G c.53080G>C p.A17694P Missense 277/363 - 1
2-179472597-A-G c.52917T>C p.D17639= Synonymous 276/363 - 1
2-179472611-G-A c.52903C>T p.R17635* Nonsense 276/363 - 1
2-179472614-T-C c.52900A>G p.I17634V Missense 276/363 - 1
2-179472617-C-A c.52897G>T p.E17633* Nonsense 276/363 - 1
2-179472646-A-ATG c.52867_52868insCA p.M17623Tfs*2 Frameshift 276/363 - 1
2-179472662-G-A c.52852C>T p.R17618C Missense 276/363 - 1
2-179472679-C-T c.52835G>A p.G17612D Missense 276/363 - 1
2-179472689-G-A c.52825C>T p.Q17609* Nonsense 276/363 - 1
2-179472693-A-G c.52821T>C p.D17607= Synonymous 276/363 - 1
2-179472922-G-T c.52688C>A p.T17563K Missense 275/363 - 1
2-179472928-G-A c.52682C>T p.P17561L Missense 275/363 - 1
2-179472943-C-T c.52667G>A p.S17556N Missense 275/363 - 1
2-179473014-A-C c.52596T>G p.D17532E Missense 275/363 - 1
2-179473014-A-T c.52596T>A p.D17532E Missense 275/363 - 1
2-179473016-C-T c.52594G>A p.D17532N Missense 275/363 - 1
2-179473021-T-C c.52589A>G p.N17530S Missense 275/363 - 1
2-179473062-C-A c.52548G>T p.W17516C Missense 275/363 - 1
2-179473063-C-T c.52547G>A p.W17516* Nonsense 275/363 - 1
2-179473062-C-T c.52548G>A p.W17516* Nonsense 275/363 - 1
2-179473137-C-T c.52473G>A p.W17491* Nonsense 275/363 - 1
2-179473198-G-T c.52412C>A p.P17471H Missense 275/363 - 1
2-179473202-G-A c.52408C>T p.P17470S Missense 275/363 - 1
2-179473349-CAC-GAT c.52387_52389delinsATC p.V17463I Missense 274/363 - 1
2-179473365-A-G c.52373T>C p.V17458A Missense 274/363 - 1
2-179473381-G-A c.52357C>T p.P17453S Missense 274/363 - 1
2-179473437-T-C c.52301A>G p.K17434R Missense 274/363 - 1
2-179473461-CTAAGTG-C c.52271_52276del p.T17424_L17425del InFrameDeletion 274/363 - 1
2-179473487-TTC-T c.52249_52250del p.E17417Mfs*9 Frameshift 274/363 - 1
2-179473587-G-A c.52151C>T p.T17384I Missense 274/363 - 1
2-179473594-T-C c.52144A>G p.R17382G Missense 274/363 - 1
2-179473605-A-T c.52133T>A p.F17378Y Missense 274/363 - 1
2-179473930-C-T c.52102+5G>A - IntronicSNV - 273/362 1
2-179473995-T-C c.52042A>G p.M17348V Missense 273/363 - 1
2-179474028-G-A c.52009C>T p.R17337* Nonsense 273/363 - 1
2-179474074-AC-TT c.51962_51963delinsAA p.R17321Q Missense 273/363 - 1
2-179474074-ACG-CCA c.51961_51963delinsTGG p.R17321W Missense 273/363 - 1
2-179474084-A-C c.51953T>G p.L17318R Missense 273/363 - 1
2-179474141-G-A c.51896C>T p.P17299L Missense 273/363 - 1
2-179474150-C-T c.51887G>A p.R17296H Missense 273/363 - 1
2-179474152-C-A c.51885G>T p.K17295N Missense 273/363 - 1
2-179474153-T-G c.51884A>C p.K17295T Missense 273/363 - 1
2-179474179-A-G c.51858T>C p.N17286= Synonymous 273/363 - 1
2-179474210-T-C c.51827A>G p.Y17276C Missense 273/363 - 1
2-179474228-C-A c.51809G>T p.S17270I Missense 273/363 - 1
2-179474229-T-C c.51808A>G p.S17270G Missense 273/363 - 1
2-179474268-G-C c.51769C>G p.L17257V Missense 273/363 - 1
2-179474413-A-G c.51737T>C p.I17246T Missense 272/363 - 1
2-179474416-G-A c.51734C>T p.P17245L Missense 272/363 - 1
2-179474447-G-A c.51703C>T p.R17235W Missense 272/363 - 1
2-179474466-C-T c.51684G>A p.A17228= Synonymous 272/363 - 1
2-179474482-C-T c.51668G>A p.R17223Q Missense 272/363 - 1
2-179474483-G-A c.51667C>T p.R17223* Nonsense 272/363 - 1
2-179474516-G-A c.51634C>T p.L17212F Missense 272/363 - 1
2-179474571-C-G c.51579G>C p.R17193S Missense 272/363 - 1
2-179474591-T-G c.51559A>C p.I17187L Missense 272/363 - 1
2-179474635-A-G c.51515T>C p.L17172S Missense 272/363 - 1
2-179474668-G-A c.51482C>T p.A17161V Missense 272/363 - 4
2-179474706-CA-C c.51444del p.D17149Ifs*4 Frameshift 272/363 - 1
2-179474816-C-T c.51436+1G>A - IntronicSNV - 271/362 1
2-179474874-C-A c.51379G>T p.V17127F Missense 271/363 - 1
2-179474922-G-A c.51331C>T p.L17111F Missense 271/363 - 1
2-179474991-C-G c.51262G>C p.E17088Q Missense 271/363 - 1
2-179474996-C-T c.51257G>A p.R17086H Missense 271/363 - 1
2-179475004-G-T c.51249C>A p.V17083= Synonymous 271/363 - 1
2-179475012-G-A c.51241C>T p.H17081Y Missense 271/363 - 1
2-179475044-G-A c.51209C>T p.P17070L Missense 271/363 - 1
2-179475102-A-G c.51151T>C p.C17051R Missense 271/363 - 1
2-179475782-T-G c.51074A>C p.Y17025S Missense 270/363 - 1
2-179476140-G-A c.50816C>T p.P16939L Missense 269/363 - 1
2-179476144-C-G c.50812G>C p.E16938Q Missense 269/363 - 1
2-179476198-G-C c.50758C>G p.P16920A Missense 269/363 - 1
2-179476201-C-A c.50755G>T p.V16919F Missense 269/363 - 1
2-179476232-C-T c.50724G>A p.K16908= Synonymous 269/363 - 1
2-179476271-G-A c.50685C>T p.G16895= Synonymous 269/363 - 1
2-179476319-A-AT c.50636dup p.N16879Kfs*12 Frameshift 269/363 - 1
2-179476363-C-A c.50593G>T p.G16865W Missense 269/363 - 1
2-179476509-T-C c.50527A>G p.I16843V Missense 268/363 - 1
2-179476513-T-C c.50523A>G p.T16841= Synonymous 268/363 - 1
2-179476513-T-A c.50523A>T p.T16841= Synonymous 268/363 - 1
2-179476513-T-G c.50523A>C p.T16841= Synonymous 268/363 - 1
2-179476527-G-A c.50509C>T p.P16837S Missense 268/363 - 1
2-179476563-G-A c.50473C>T p.Q16825* Nonsense 268/363 - 1
2-179476599-C-T c.50437G>A p.V16813I Missense 268/363 - 1
2-179476647-G-A c.50389C>T p.R16797C Missense 268/363 - 1
2-179476833-C-A c.50305G>T p.D16769Y Missense 267/363 - 1
2-179476842-G-A c.50296C>T p.R16766* Nonsense 267/363 - 1
2-179476989-A-T c.50248+15T>A - IntronicSNV - 266/362 1
2-179477030-T-C c.50222A>G p.D16741G Missense 266/363 - 1
2-179477065-A-C c.50187T>G p.N16729K Missense 266/363 - 1
2-179477065-A-T c.50187T>A p.N16729K Missense 266/363 - 1
2-179477082-G-A c.50170C>T p.R16724* Nonsense 266/363 - 1
2-179477097-A-G c.50155T>C p.S16719P Missense 266/363 - 1
2-179477098-G-T c.50154C>A p.G16718= Synonymous 266/363 - 1
2-179477180-C-T c.50072G>A p.R16691K Missense 266/363 - 1
2-179477189-CA-C c.50063del p.V16688Gfs*28 Frameshift 266/363 - 1
2-179477207-G-A c.50045C>T p.P16682L Missense 266/363 - 1
2-179477254-A-G c.49998T>C p.N16666= Synonymous 266/363 - 1
2-179477267-T-G c.49985A>C p.N16662T Missense 266/363 - 1
2-179477518-G-T c.49930C>A p.L16644I Missense 265/363 - 1
2-179477518-G-A c.49930C>T p.L16644F Missense 265/363 - 1
2-179477529-C-G c.49919G>C p.S16640T Missense 265/363 - 2
2-179477545-C-T c.49903G>A p.E16635K Missense 265/363 - 1
2-179477556-G-T c.49892C>A p.A16631D Missense 265/363 - 1
2-179477634-A-C c.49814T>G p.V16605G Missense 265/363 - 2
2-179477655-C-T c.49793G>A p.W16598* Nonsense 265/363 - 1
2-179477654-C-T c.49794G>A p.W16598* Nonsense 265/363 - 1
2-179477664-G-A c.49784C>T p.T16595I Missense 265/363 - 1
2-179477690-A-G c.49758T>C p.Y16586= Synonymous 265/363 - 1
2-179477717-A-G c.49731T>C p.H16577= Synonymous 265/363 - 1
2-179477718-T-C c.49730A>G p.H16577R Missense 265/363 - 1
2-179477740-A-G c.49708T>C p.L16570= Synonymous 265/363 - 1
2-179477757-C-A c.49691G>T p.G16564V Missense 265/363 - 1
2-179477784-G-C c.49664C>G p.P16555R Missense 265/363 - 1
2-179477886-TA-T c.49648+2del - IntronicDeletion - 264/362 1
2-179477898-C-G c.49638G>C p.K16546N Missense 264/363 - 1
2-179477900-T-A c.49636A>T p.K16546* Nonsense 264/363 - 1
2-179477914-T-A c.49622A>T p.E16541V Missense 264/363 - 1
2-179478552-C-T c.49458G>A p.W16486* Nonsense 263/363 - 1
2-179478581-C-T c.49429G>A p.D16477N Missense 263/363 - 1
2-179478581-TC-T c.49429del p.D16477Mfs*29 Frameshift 263/363 - 1
2-179478595-C-T c.49415G>A p.C16472Y Missense 263/363 - 1
2-179478597-C-A c.49413G>T p.W16471C Missense 263/363 - 1
2-179478597-C-G c.49413G>C p.W16471C Missense 263/363 - 1
2-179478604-A-T c.49406T>A p.L16469H Missense 263/363 - 1
2-179478617-C-T c.49393G>A p.D16465N Missense 263/363 - 1
2-179478639-T-A c.49371A>T p.L16457= Synonymous 263/363 - 1
2-179478643-C-A c.49367G>T p.R16456L Missense 263/363 - 1
2-179478802-G-A c.49322C>T p.P16441L Missense 262/363 - 1
2-179478852-TCT-ATG c.49270_49272delinsCAT p.R16424H Missense 262/363 - 1
2-179478859-A-G c.49265T>C p.I16422T Missense 262/363 - 1
2-179478938-C-A c.49186G>T p.E16396* Nonsense 262/363 - 1
2-179478940-C-T c.49184G>A p.S16395N Missense 262/363 - 1
2-179478953-G-A c.49171C>T p.R16391* Nonsense 262/363 - 1
2-179478959-C-T c.49165G>A p.E16389K Missense 262/363 - 1
2-179478972-T-G c.49152A>C p.T16384= Synonymous 262/363 - 1
2-179478975-G-C c.49149C>G p.I16383M Missense 262/363 - 1
2-179479073-T-TC c.49050_49051insG p.K16351Efs*9 SpliceAcceptorInsertion 262/363 - 1
2-179479073-T-TG c.49050_49051insC p.K16351Qfs*9 SpliceAcceptorInsertion 262/363 - 1
2-179479070-GT-G c.49053del p.K16351Nfs*13 Frameshift 262/363 - 1
2-179479073-T-TA c.49050dup p.K16351* SpliceAcceptorInsertion 262/363 - 1
2-179479216-G-A c.49025C>T p.A16342V Missense 261/363 - 1
2-179479241-C-T c.49000G>A p.V16334M Missense 261/363 - 1
2-179479245-C-T c.48996G>A p.E16332= Synonymous 261/363 - 1
2-179479258-G-A c.48983C>T p.T16328I Missense 261/363 - 1
2-179479288-A-G c.48953T>C p.I16318T Missense 261/363 - 2
2-179479310-G-A c.48931C>T p.P16311S Missense 261/363 - 1
2-179479327-A-G c.48914T>C p.I16305T Missense 261/363 - 1
2-179479403-C-T c.48838G>A p.A16280T Missense 261/363 - 1
2-179479409-G-T c.48832C>A p.L16278I Missense 261/363 - 1
2-179479441-C-T c.48800G>A p.G16267D Missense 261/363 - 1
2-179479582-T-C c.48752A>G p.D16251G Missense 260/363 - 1
2-179479583-C-T c.48751G>A p.D16251N Missense 260/363 - 1
2-179479609-C-A c.48725G>T p.R16242I Missense 260/363 - 1
2-179479631-G-A c.48703C>T p.Q16235* Nonsense 260/363 - 1
2-179479653-G-C c.48681C>G p.Y16227* Nonsense 260/363 - 1
2-179480173-G-A c.48499C>T p.R16167* Nonsense 259/363 - 1
2-179480201-G-C c.48471C>G p.D16157E Missense 259/363 - 1
2-179480201-G-T c.48471C>A p.D16157E Missense 259/363 - 1
2-179480409-G-A c.48419C>T p.P16140L Missense 258/363 - 1
2-179480429-G-C c.48399C>G p.N16133K Missense 258/363 - 1
2-179480429-G-T c.48399C>A p.N16133K Missense 258/363 - 1
2-179480431-T-C c.48397A>G p.N16133D Missense 258/363 - 2
2-179480441-AAC-CAT c.48385_48387delinsATG p.V16129M Missense 258/363 - 1
2-179480443-C-A c.48385G>T p.V16129F Missense 258/363 - 1
2-179480469-A-G c.48359T>C p.V16120A Missense 258/363 - 1
2-179480501-C-CA c.48326dup p.T16110Dfs*2 Frameshift 258/363 - 1
2-179481235-G-A c.48283C>T p.R16095* Nonsense 257/363 - 1
2-179481241-C-T c.48277G>A p.E16093K Missense 257/363 - 1
2-179481289-C-A c.48229G>T p.E16077* Nonsense 257/363 - 1
2-179481337-C-T c.48181G>A p.E16061K Missense 257/363 - 1
2-179481350-TG-T c.48167del p.P16056Qfs*7 Frameshift 257/363 - 1
2-179481354-C-T c.48164G>A p.R16055H Missense 257/363 - 1
2-179481537-G-A c.48079C>T p.R16027C Missense 256/363 - 1
2-179481552-T-G c.48064A>C p.I16022L Missense 256/363 - 1
2-179481591-C-T c.48025G>A p.V16009M Missense 256/363 - 1
2-179481856-C-T c.47866G>A p.D15956N Missense 255/363 - 1
2-179481877-G-GA c.47844dup p.L15949Sfs*7 Frameshift 255/363 - 1
2-179481894-G-A c.47828C>T p.S15943L Missense 255/363 - 1
2-179481913-C-T c.47809G>A p.E15937K Missense 255/363 - 1
2-179481940-T-C c.47782A>G p.N15928D Missense 255/363 - 1
2-179481956-GG-CT c.47765_47766delinsAG p.T15922K Missense 255/363 - 1
2-179482075-G-A c.47737C>T p.L15913F Missense 254/363 - 1
2-179482089-C-T c.47723G>A p.R15908H Missense 254/363 - 1
2-179482119-C-T c.47693G>A p.R15898Q Missense 254/363 - 1
2-179482120-G-A c.47692C>T p.R15898* Nonsense 254/363 - 1
2-179482188-G-A c.47624C>T p.S15875L Missense 254/363 - 1
2-179482195-G-A c.47617C>T p.Q15873* Nonsense 254/363 - 1
2-179482230-C-T c.47582G>A p.S15861N Missense 254/363 - 1
2-179482533-G-T c.47545C>A p.P15849T Missense 253/363 - 2
2-179482559-C-T c.47519G>A p.G15840E Missense 253/363 - 1
2-179482575-C-T c.47503G>A p.A15835T Missense 253/363 - 1
2-179482584-G-A c.47494C>T p.R15832* Nonsense 253/363 - 4
2-179482622-G-C c.47456C>G p.T15819S Missense 253/363 - 1
2-179482623-T-A c.47455A>T p.T15819S Missense 253/363 - 1
2-179482678-C-T c.47400G>A p.K15800= Synonymous 253/363 - 1
2-179482726-A-C c.47352T>G p.Y15784* Nonsense 253/363 - 1
2-179482756-A-G c.47322T>C p.G15774= Synonymous 253/363 - 1
2-179482763-C-T c.47315G>A p.R15772Q Missense 253/363 - 1
2-179482800-C-T c.47278G>A p.G15760S Missense 253/363 - 1
2-179482914-A-G c.47269+2T>C - IntronicSNV - 252/362 1
2-179482926-C-A c.47259G>T p.R15753S Missense 252/363 - 1
2-179482994-G-A c.47191C>T p.R15731C Missense 252/363 - 2
2-179482994-G-T c.47191C>A p.R15731S Missense 252/363 - 1
2-179483012-C-A c.47173G>T p.G15725* Nonsense 252/363 - 1
2-179483054-C-T c.47131G>A p.A15711T Missense 252/363 - 1
2-179483056-C-T c.47129G>A p.R15710H Missense 252/363 - 1
2-179483095-C-T c.47090G>A p.R15697H Missense 252/363 - 1
2-179483108-C-T c.47077G>A p.V15693I Missense 252/363 - 1
2-179483137-GT-G c.47047del p.T15683Lfs*8 Frameshift 252/363 - 1
2-179483173-T-A c.47012A>T p.D15671V Missense 252/363 - 1
2-179483397-G-A c.46880C>T p.A15627V Missense 251/363 - 1
2-179483454-A-G c.46823T>C p.L15608S Missense 251/363 - 1
2-179483495-G-T c.46782C>A p.Y15594* Nonsense 251/363 - 1
2-179483503-C-T c.46774G>A p.D15592N Missense 251/363 - 1
2-179483554-G-A c.46723C>T p.Q15575* Nonsense 251/363 - 1
2-179483559-G-T c.46718C>A p.A15573D Missense 251/363 - 1
2-179484351-C-A c.46693G>T p.A15565S Missense 250/363 - 1
2-179484414-G-A c.46630C>T p.R15544C Missense 250/363 - 1
2-179484523-C-G c.46521G>C p.K15507N Missense 250/363 - 1
2-179484593-C-A c.46451G>T p.R15484M Missense 250/363 - 1
2-179484758-G-A c.46386C>T p.C15462= Synonymous 249/363 - 1
2-179484789-CA-GC c.46354_46355delinsGC p.C15452A Missense 249/363 - 1
2-179484816-CT-AG c.46327_46328inv p.S15443L Missense 249/363 - 1
2-179484829-C-T c.46315G>A p.E15439K Missense 249/363 - 1
2-179484952-T-G c.46296A>C p.E15432D Missense 248/363 - 1
2-179485033-GA-G c.46214del p.F15405Sfs*17 Frameshift 248/363 - 1
2-179485076-G-A c.46172C>T p.T15391I Missense 248/363 - 1
2-179485199-C-T c.46049G>A p.R15350K Missense 248/363 - 1
2-179485254-G-A c.45994C>T p.L15332= Synonymous 248/363 - 1
2-179485268-C-T c.45980G>A p.R15327H Missense 248/363 - 1
2-179485273-CA-GT c.45974_45975delinsAC p.V15325D Missense 248/363 - 1
2-179485274-A-T c.45974T>A p.V15325E Missense 248/363 - 1
2-179485316-A-G c.45932T>C p.I15311T Missense 248/363 - 1
2-179485329-G-T c.45919C>A p.P15307T Missense 248/363 - 1
2-179485441-C-A c.45895+1G>T - IntronicSNV - 247/362 1
2-179485448-C-T c.45889G>A p.V15297I Missense 247/363 - 1
2-179485462-G-T c.45875C>A p.A15292E Missense 247/363 - 1
2-179485488-ATTGGTCAAAGACACATTATAGTTGGC-A c.45823_45848del p.A15275Sfs*4 Frameshift 247/363 - 1
2-179485514-C-A c.45823G>T p.A15275S Missense 247/363 - 1
2-179485577-T-A c.45760A>T p.I15254F Missense 247/363 - 1
2-179485599-A-G c.45738T>C p.A15246= Synonymous 247/363 - 1
2-179485837-G-A c.45608C>T p.T15203I Missense 246/363 - 1
2-179485844-G-C c.45601C>G p.H15201D Missense 246/363 - 1
2-179485846-G-C c.45599C>G p.A15200G Missense 246/363 - 1
2-179485895-G-A c.45550C>T p.Q15184* Nonsense 246/363 - 1
2-179485919-G-A c.45526C>T p.L15176= Synonymous 246/363 - 1
2-179485934-C-A c.45511G>T p.G15171C Missense 246/363 - 1
2-179485936-T-A c.45509A>T p.D15170V Missense 246/363 - 1
2-179485937-C-T c.45508G>A p.D15170N Missense 246/363 - 1
2-179485946-C-T c.45499G>A p.V15167I Missense 246/363 - 1
2-179485975-T-A c.45470A>T p.K15157M Missense 246/363 - 1
2-179486037-C-A c.45408G>T p.K15136N Missense 246/363 - 1
2-179486211-T-C c.45340A>G p.K15114E Missense 245/363 - 1
2-179486223-C-T c.45328G>A p.D15110N Missense 245/363 - 5
2-179486229-G-A c.45322C>T p.R15108* Nonsense 245/363 - 1
2-179486250-T-G c.45301A>C p.N15101H Missense 245/363 - 1
2-179486268-C-T c.45283G>A p.E15095K Missense 245/363 - 1
2-179486304-G-A c.45247C>T p.R15083W Missense 245/363 - 1
2-179486345-T-A c.45206A>T p.E15069V Missense 245/363 - 1
2-179486352-C-A c.45199G>T p.D15067Y Missense 245/363 - 1
2-179486354-C-G c.45197G>C p.G15066A Missense 245/363 - 1
2-179486358-T-C c.45193A>G p.K15065E Missense 245/363 - 1
2-179486376-C-T c.45175G>A p.A15059T Missense 245/363 - 3
2-179486377-G-A c.45174C>T p.G15058= Synonymous 245/363 - 1
2-179486381-G-A c.45170C>T p.P15057L Missense 245/363 - 1
2-179486400-C-T c.45151G>A p.V15051I Missense 245/363 - 1
2-179486403-G-A c.45148C>T p.L15050= Synonymous 245/363 - 1
2-179486408-A-G c.45143T>C p.I15048T Missense 245/363 - 1
2-179486418-T-C c.45133A>G p.T15045A Missense 245/363 - 1
2-179486426-A-G c.45125T>C p.V15042A Missense 245/363 - 1
2-179486439-C-T c.45112G>A p.A15038T Missense 245/363 - 1
2-179486441-A-G c.45110T>C p.L15037P Missense 245/363 - 1
2-179486451-T-C c.45100A>G p.T15034A Missense 245/363 - 1
2-179486454-A-G c.45097T>C p.F15033L Missense 245/363 - 1
2-179486462-T-A c.45089A>T p.E15030V Missense 245/363 - 1
2-179486585-C-T c.45064G>A p.G15022S Missense 244/363 - 1
2-179486646-GTTGA-G c.44999_45002del p.I15000Tfs*15 Frameshift 244/363 - 1
2-179486651-T-C c.44998A>G p.I15000V Missense 244/363 - 1
2-179486662-C-T c.44987G>A p.R14996H Missense 244/363 - 1
2-179487403-A-G c.44907T>C p.N14969= Synonymous 243/363 - 1
2-179487431-C-G c.44879G>C p.R14960P Missense 243/363 - 1
2-179487459-G-T c.44851C>A p.L14951I Missense 243/363 - 1
2-179487478-G-C c.44832C>G p.F14944L Missense 243/363 - 2
2-179487492-G-A c.44818C>T p.P14940S Missense 243/363 - 1
2-179489223-A-G c.44784T>C p.D14928= Synonymous 242/363 - 1
2-179490018-C-A c.44530G>T p.A14844S Missense 241/363 - 1
2-179490099-ACTTTTCCTTCTGAACGTGGG-A c.44430_44449del p.P14811Sfs*37 Frameshift 241/363 - 1
2-179494029-T-G c.44423A>C p.K14808T Missense 240/363 - 1
2-179494034-G-A c.44418C>T p.S14806= Synonymous 240/363 - 1
2-179494075-G-T c.44377C>A p.P14793T Missense 240/363 - 1
2-179494102-C-T c.44350G>A p.D14784N Missense 240/363 - 1
2-179494168-G-A c.44284C>T p.R14762* Nonsense 240/363 - 1
2-179494977-G-A c.44272C>T p.R14758* Nonsense 239/363 - 1
2-179494979-A-T c.44270T>A p.L14757H Missense 239/363 - 1
2-179494988-C-T c.44261G>A p.S14754N Missense 239/363 - 1
2-179495027-G-A c.44222C>T p.T14741M Missense 239/363 - 1
2-179495045-T-C c.44204A>G p.N14735S Missense 239/363 - 1
2-179495058-G-A c.44191C>T p.L14731F Missense 239/363 - 1
2-179495060-G-A c.44189C>T p.S14730F Missense 239/363 - 1
2-179495073-C-T c.44176G>A p.G14726S Missense 239/363 - 1
2-179495571-G-A c.44114C>T p.A14705V Missense 238/363 - 1
2-179495585-T-G c.44100A>C p.E14700D Missense 238/363 - 1
2-179495623-C-G c.44062G>C p.E14688Q Missense 238/363 - 1
2-179495644-G-T c.44041C>A p.L14681M Missense 238/363 - 1
2-179495650-G-A c.44035C>T p.R14679* Nonsense 238/363 - 1
2-179495661-A-G c.44024T>C p.I14675T Missense 238/363 - 1
2-179495665-C-T c.44020G>A p.E14674K Missense 238/363 - 1
2-179495857-G-A c.43918C>T p.R14640C Missense 237/363 - 1
2-179495925-T-G c.43850A>C p.K14617T Missense 237/363 - 1
2-179495985-CC-TT c.43789_43790delinsAA p.G14597N Missense 237/363 - 1
2-179496000-A-C c.43775T>G p.L14592R Missense 237/363 - 1
2-179496025-C-A c.43750G>T p.G14584* Nonsense 237/363 - 1
2-179496874-C-T c.43747G>A p.E14583K Missense 236/363 - 1
2-179496883-T-G c.43738A>C p.T14580P Missense 236/363 - 1
2-179496925-T-G c.43696A>C p.I14566L Missense 236/363 - 1
2-179496930-G-C c.43691C>G p.S14564C Missense 236/363 - 1
2-179496985-C-T c.43636G>A p.D14546N Missense 236/363 - 1
2-179496991-T-TTA c.43629_43630insTA p.M14544* Nonsense 236/363 - 5
2-179497025-A-G c.43596T>C p.N14532= Synonymous 236/363 - 1
2-179497039-T-A c.43582A>T p.K14528* Nonsense 236/363 - 1
2-179497045-G-A c.43576C>T p.R14526* Nonsense 236/363 - 1
2-179497056-T-C c.43565A>G p.H14522R Missense 236/363 - 1
2-179497108-C-G c.43513G>C p.D14505H Missense 236/363 - 1
2-179497119-G-C c.43502C>G p.T14501S Missense 236/363 - 1
2-179497133-C-T c.43488G>A p.R14496= Synonymous 236/363 - 1
2-179497253-C-T c.43480G>A p.G14494R Missense 235/363 - 1
2-179497253-C-G c.43480G>C p.G14494R Missense 235/363 - 1
2-179497291-G-T c.43442C>A p.A14481D Missense 235/363 - 1
2-179497341-C-G c.43392G>C p.M14464I Missense 235/363 - 1
2-179497341-C-T c.43392G>A p.M14464I Missense 235/363 - 1
2-179497341-C-A c.43392G>T p.M14464I Missense 235/363 - 1
2-179497354-G-A c.43379C>T p.T14460I Missense 235/363 - 1
2-179497453-A-C c.43280T>G p.F14427C Missense 235/363 - 1
2-179497655-C-A c.43203G>T p.L14401= Synonymous 234/363 - 1
2-179497720-A-G c.43138T>C p.C14380R Missense 234/363 - 1
2-179497944-C-G c.43056G>C p.K14352N Missense 233/363 - 1
2-179497944-C-A c.43056G>T p.K14352N Missense 233/363 - 1
2-179497955-C-T c.43045G>A p.G14349S Missense 233/363 - 1
2-179497987-A-C c.43013T>G p.F14338C Missense 233/363 - 1
2-179498022-G-A c.42978C>T p.Y14326= Synonymous 233/363 - 1
2-179498042-T-C c.42958A>G p.K14320E Missense 233/363 - 1
2-179498161-T-A c.42925A>T p.K14309* Nonsense 232/363 - 1
2-179498168-G-A c.42918C>T p.D14306= Synonymous 232/363 - 1
2-179498224-T-C c.42862A>G p.I14288V Missense 232/363 - 1
2-179498235-C-T c.42851G>A p.R14284H Missense 232/363 - 1
2-179498267-G-A c.42819C>T p.P14273= Synonymous 232/363 - 2
2-179498293-C-G c.42793G>C p.D14265H Missense 232/363 - 1
2-179498303-T-C c.42783A>G p.K14261= Synonymous 232/363 - 1
2-179498328-T-A c.42758A>T p.E14253V Missense 232/363 - 1
2-179498679-T-C c.42547A>G p.T14183A Missense 231/363 - 1
2-179498729-G-A c.42497C>T p.S14166F Missense 231/363 - 1
2-179498784-G-A c.42442C>T p.L14148F Missense 231/363 - 1
2-179499107-C-T c.42401G>A p.R14134Q Missense 230/363 - 1
2-179499108-G-T c.42400C>A p.R14134= Synonymous 230/363 - 1
2-179499106-C-T c.42402G>A p.R14134= Synonymous 230/363 - 1
2-179499106-C-G c.42402G>C p.R14134= Synonymous 230/363 - 1
2-179499106-C-A c.42402G>T p.R14134= Synonymous 230/363 - 1
2-179499117-TCTTCTTGCCCTCCACCTCAG-T c.42371_42390del p.A14124Dfs*19 Frameshift 230/363 - 1
2-179499134-T-G c.42374A>C p.E14125A Missense 230/363 - 1
2-179499175-A-C c.42333T>G p.I14111M Missense 230/363 - 1
2-179499293-C-G c.42215G>C p.R14072P Missense 230/363 - 1
2-179499352-G-A c.42156C>T p.I14052= Synonymous 230/363 - 1
2-179499529-G-T c.42072C>A p.H14024Q Missense 229/363 - 1
2-179499529-G-C c.42072C>G p.H14024Q Missense 229/363 - 1
2-179499530-T-C c.42071A>G p.H14024R Missense 229/363 - 1
2-179499544-GCG-TCA c.42055_42057delinsTGA p.R14019* Nonsense 229/363 - 1
2-179499546-G-A c.42055C>T p.R14019C Missense 229/363 - 1
2-179499966-A-C c.41950T>G p.F13984V Missense 228/363 - 1
2-179500191-A-G c.41860T>C p.Y13954H Missense 227/363 - 1
2-179500200-C-T c.41851G>A p.G13951R Missense 227/363 - 1
2-179500216-A-C c.41835T>G p.Y13945* Nonsense 227/363 - 1
2-179500233-C-T c.41818G>A p.E13940K Missense 227/363 - 1
2-179500410-G-A c.41641C>T p.R13881* Nonsense 227/363 - 1
2-179500691-TA-GT c.41606_41607delinsAC p.V13869D Missense 226/363 - 1
2-179500692-A-T c.41606T>A p.V13869E Missense 226/363 - 1
2-179500702-C-T c.41596G>A p.V13866I Missense 226/363 - 1
2-179500777-C-T c.41521G>A p.D13841N Missense 226/363 - 1
2-179500790-A-G c.41508T>C p.A13836= Synonymous 226/363 - 1
2-179500837-C-T c.41461G>A p.E13821K Missense 226/363 - 1
2-179500847-C-A c.41451G>T p.K13817N Missense 226/363 - 1
2-179500920-AC-A c.41377del p.V13793Sfs*8 Frameshift 226/363 - 1
2-179500965-A-C c.41333T>G p.L13778R Missense 226/363 - 1
2-179501172-C-T c.41282G>A p.R13761H Missense 225/363 - 1
2-179501205-A-G c.41249T>C p.L13750P Missense 225/363 - 2
2-179501279-A-C c.41175T>G p.N13725K Missense 225/363 - 1
2-179501288-G-A c.41166C>T p.D13722= Synonymous 225/363 - 1
2-179501296-T-C c.41158A>G p.M13720V Missense 225/363 - 1
2-179501310-G-T c.41144C>A p.A13715E Missense 225/363 - 1
2-179501350-A-G c.41104T>C p.S13702P Missense 225/363 - 1
2-179501351-G-A c.41103C>T p.G13701= Synonymous 225/363 - 1
2-179501357-G-A c.41097C>T p.F13699= Synonymous 225/363 - 1
2-179501366-T-G c.41088A>C p.E13696D Missense 225/363 - 1
2-179501386-T-A c.41068A>T p.K13690* Nonsense 225/363 - 1
2-179501401-A-C c.41053T>G p.F13685V Missense 225/363 - 1
2-179501443-C-T c.41011G>A p.E13671K Missense 225/363 - 1
2-179501481-T-C c.40973A>G p.K13658R Missense 225/363 - 1
2-179501513-CT-C c.40940del p.K13647Rfs*6 Frameshift 225/363 - 1
2-179504435-T-A c.40867A>T p.K13623* Nonsense 223/363 - 1
2-179504471-G-C c.40831C>G p.P13611A Missense 223/363 - 1
2-179504778-C-G c.40783G>C p.A13595P Missense 222/363 - 1
2-179504795-G-A c.40766C>T p.P13589L Missense 222/363 - 1
2-179505266-A-T c.40723+2T>A - IntronicSNV - 221/362 1
2-179505992-GT-G c.40608del p.K13536Nfs*2 Frameshift 220/363 - 1
2-179506014-T-C c.40587A>G p.E13529= Synonymous 220/363 - 1
2-179506019-C-A c.40582G>T p.E13528* Nonsense 220/363 - 1
2-179506963-C-T c.40558+1G>A - IntronicSNV - 219/362 1
2-179506964-C-G c.40558G>C p.V13520L Missense 219/363 - 3
2-179506979-C-T c.40543G>A p.V13515I Missense 219/363 - 1
2-179507002-C-T c.40520G>A p.R13507H Missense 219/363 - 1
2-179507030-T-A c.40492A>T p.K13498* Nonsense 219/363 - 1
2-179509294-CAC-GAT c.40456_40458delinsATC p.V13486I Missense 218/363 - 2
2-179509329-T-C c.40423A>G p.K13475E Missense 218/363 - 1
2-179509335-T-C c.40417A>G p.K13473E Missense 218/363 - 1
2-179510673-A-T c.40382T>A p.V13461E Missense 217/363 - 1
2-179510691-G-A c.40364C>T p.A13455V Missense 217/363 - 2
2-179510706-G-A c.40349C>T p.P13450L Missense 217/363 - 1
2-179511227-C-A c.40282G>T p.E13428* Nonsense 216/363 - 1
2-179511257-C-T c.40252G>A p.E13418K Missense 216/363 - 1
2-179511281-C-T c.40228G>A p.E13410K Missense 216/363 - 1
2-179511286-T-C c.40223A>G p.E13408G Missense 216/363 - 1
2-179511803-G-A c.40210C>T p.P13404S Missense 215/363 - 1
2-179511828-TA-T c.40185del p.I13396* Frameshift 215/363 - 1
2-179511849-T-G c.40164A>C p.I13388= Synonymous 215/363 - 1
2-179511857-C-G c.40156G>C p.E13386Q Missense 215/363 - 1
2-179512116-G-A c.40133C>T p.P13378L Missense 214/363 - 1
2-179512181-C-T c.40068G>A p.V13356= Synonymous 214/363 - 1
2-179513987-G-C c.40045C>G p.L13349V Missense 213/363 - 1
2-179514316-G-T c.39938C>A p.P13313Q Missense 212/363 - 1
2-179514552-G-T c.39887C>A p.P13296H Missense 211/363 - 1
2-179514600-ATCT-A c.39836_39838del p.K13279del InFrameDeletion 211/363 - 1
2-179514619-G-A c.39820C>T p.P13274S Missense 211/363 - 1
2-179514922-T-C c.39786A>G p.E13262= Synonymous 210/363 - 1
2-179514972-G-A c.39736C>T p.P13246S Missense 210/363 - 1
2-179515483-G-C c.39704C>G p.P13235R Missense 209/363 - 2
2-179515498-G-A c.39689C>T p.A13230V Missense 209/363 - 1
2-179515514-G-C c.39673C>G p.P13225A Missense 209/363 - 1
2-179515982-G-A c.39613C>T p.P13205S Missense 208/363 - 1
2-179516005-G-A c.39590C>T p.A13197V Missense 208/363 - 1
2-179516012-T-A c.39583A>T p.K13195* Nonsense 208/363 - 1
2-179516027-C-T c.39568G>A p.V13190I Missense 208/363 - 1
2-179516027-C-G c.39568G>C p.V13190L Missense 208/363 - 1
2-179516225-C-T c.39502G>A p.V13168M Missense 207/363 - 1
2-179516234-C-CA c.39492dup p.E13165* Nonsense 207/363 - 1
2-179516248-T-C c.39479A>G p.K13160R Missense 207/363 - 1
2-179516252-G-A c.39475C>T p.P13159S Missense 207/363 - 1
2-179516402-G-T c.39454C>A p.P13152T Missense 206/363 - 1
2-179516614-G-A c.39376C>T p.Q13126* Nonsense 205/363 - 1
2-179516616-G-A c.39374C>T p.P13125L Missense 205/363 - 1
2-179516676-T-C c.39314A>G p.E13105G Missense 205/363 - 1
2-179516682-G-A c.39308C>T p.P13103L Missense 205/363 - 1
2-179516850-G-A c.39268C>T p.P13090S Missense 204/363 - 1
2-179516994-T-A c.39208A>T p.K13070* Nonsense 203/363 - 1
2-179517033-G-A c.39169C>T p.P13057S Missense 203/363 - 1
2-179517230-C-T c.39082G>A p.V13028M Missense 202/363 - 1
2-179517379-C-A c.39043+1G>T - IntronicSNV - 201/362 1
2-179517403-T-G c.39020A>C p.K13007T Missense 201/363 - 1
2-179517404-T-A c.39019A>T p.K13007* Nonsense 201/363 - 1
2-179517417-C-T c.39006G>A p.S13002= Synonymous 201/363 - 1
2-179517448-T-A c.38975A>T p.K12992I Missense 201/363 - 1
2-179517462-T-C c.38961A>G p.V12987= Synonymous 201/363 - 1
2-179517585-A-C c.38949T>G p.P12983= Synonymous 200/363 - 1
2-179517585-A-T c.38949T>A p.P12983= Synonymous 200/363 - 1
2-179517585-A-G c.38949T>C p.P12983= Synonymous 200/363 - 1
2-179517587-G-T c.38947C>A p.P12983T Missense 200/363 - 1
2-179517593-C-T c.38941G>A p.E12981K Missense 200/363 - 1
2-179517632-G-A c.38902C>T p.P12968S Missense 200/363 - 1
2-179517638-C-T c.38896G>A p.V12966I Missense 200/363 - 1
2-179517654-T-C c.38880A>G p.P12960= Synonymous 200/363 - 1
2-179517804-T-G c.38839A>C p.T12947P Missense 199/363 - 1
2-179517808-T-C c.38835A>G p.P12945= Synonymous 199/363 - 1
2-179517808-TG-T c.38834del p.P12945Qfs*2 Frameshift 199/363 - 1
2-179517825-GA-G c.38817del p.P12940Lfs*7 Frameshift 199/363 - 1
2-179517840-G-A c.38803C>T p.P12935S Missense 199/363 - 1
2-179518001-C-T c.38755G>A p.A12919T Missense 198/363 - 1
2-179518003-A-G c.38753T>C p.L12918S Missense 198/363 - 3
2-179518019-C-CA c.38736dup p.E12913* Nonsense 198/363 - 1
2-179518195-GTTTTC-G c.38661_38665del p.K12887Nfs*6 Frameshift 197/363 - 1
2-179518217-C-T c.38644G>A p.E12882K Missense 197/363 - 1
2-179518219-T-C c.38642A>G p.Q12881R Missense 197/363 - 1
2-179518566-T-G c.38523A>C p.K12841N Missense 195/363 - 1
2-179518571-T-G c.38518A>C p.K12840Q Missense 195/363 - 1
2-179518817-C-T c.38386G>A p.E12796K Missense 194/363 - 1
2-179518937-T-C c.38378A>G p.K12793R Missense 193/363 - 1
2-179518954-C-G c.38361G>C p.P12787= Synonymous 193/363 - 1
2-179518955-G-A c.38360C>T p.P12787L Missense 193/363 - 1
2-179518959-T-G c.38356A>C p.K12786Q Missense 193/363 - 1
2-179518959-T-A c.38356A>T p.K12786* Nonsense 193/363 - 1
2-179518979-A-G c.38336T>C p.V12779A Missense 193/363 - 1
2-179518995-C-G c.38320G>C p.V12774L Missense 193/363 - 1
2-179519004-T-C c.38311A>G p.K12771E Missense 193/363 - 1
2-179519508-C-T c.38170G>A p.A12724T Missense 191/363 - 1
2-179522230-A-G c.38033T>C p.V12678A Missense 189/363 - 1
2-179522425-G-A c.37943C>T p.P12648L Missense 188/363 - 1
2-179522436-C-CTTTTTTTTT c.37931_37932insAAAAAAAAA p.K12644_P12645insKKK InFrameInsertion 188/363 - 1
2-179522489-TC-T c.37879del p.E12627Kfs*320 Frameshift 188/363 - 1
2-179522674-C-G c.37807G>C p.E12603Q Missense 187/363 - 1
2-179522804-C-CA c.37791_37792insT p.V12598Cfs*3 SpliceDonorInsertion 186/363 - 1
2-179522829-TT-CA c.37766_37767delinsTG p.K12589M Missense 186/363 - 1
2-179523215-G-A c.37607C>T p.P12536L Missense 184/363 - 1
2-179523228-C-T c.37594G>A p.V12532M Missense 184/363 - 1
2-179523231-C-CA c.37590_37591insT p.A12531Cfs*15 Frameshift 184/363 - 1
2-179523255-C-T c.37567G>A p.V12523I Missense 184/363 - 1
2-179523440-G-A c.37535C>T p.P12512L Missense 183/363 - 1
2-179523473-G-A c.37502C>T p.P12501L Missense 183/363 - 2
2-179523487-TGG-AAA c.37486_37488delinsTTT p.P12496F Missense 183/363 - 1
2-179523514-T-A c.37461A>T p.E12487D Missense 183/363 - 1
2-179523753-G-A c.37432C>T p.P12478S Missense 182/363 - 1
2-179523903-TGT-ATG c.37363_37365delinsCAT p.T12455H Missense 181/363 - 1
2-179523905-T-TG c.37362dup p.T12455Hfs*18 Frameshift 181/363 - 1
2-179523959-AC-A c.37309del p.V12437Ffs*510 Frameshift 181/363 - 1
2-179523961-A-G c.37307T>C p.V12436A Missense 181/363 - 1
2-179526524-G-A c.37247C>T p.S12416L Missense 180/363 - 2
2-179526542-AG-A c.37228del p.E12411Kfs*536 Frameshift 180/363 - 1
2-179526555-T-TA c.37215_37216insT p.K12406* Nonsense 180/363 - 1
2-179527086-GT-G c.37017del p.K12339Nfs*608 Frameshift 177/363 - 1
2-179527095-G-A c.37009C>T p.P12337S Missense 177/363 - 3
2-179527113-C-T c.36991G>A p.E12331K Missense 177/363 - 1
2-179527277-T-C c.36941A>G p.E12314G Missense 176/363 - 1
2-179527484-G-T c.36846C>A p.P12282= Synonymous 175/363 - 1
2-179527730-CAC-GAT c.36751_36753delinsATC p.V12251I Missense 174/363 - 1
2-179528020-G-T c.36673C>A p.P12225T Missense 173/363 - 1
2-179528038-A-C c.36655T>G p.L12219V Missense 173/363 - 1
2-179528068-C-A c.36625G>T p.V12209L Missense 173/363 - 2
2-179528186-T-G c.36590A>C p.K12197T Missense 172/363 - 1
2-179528208-T-A c.36568A>T p.K12190* Nonsense 172/363 - 1
2-179528238-C-T c.36538G>A p.E12180K Missense 172/363 - 1
2-179528377-T-A c.36509A>T p.E12170V Missense 171/363 - 1
2-179528378-C-T c.36508G>A p.E12170K Missense 171/363 - 2
2-179528396-G-T c.36490C>A p.P12164T Missense 171/363 - 1
2-179528397-C-T c.36489G>A p.A12163= Synonymous 171/363 - 1
2-179528425-G-C c.36461C>G p.P12154R Missense 171/363 - 1
2-179528546-C-T c.36448G>A p.V12150I Missense 170/363 - 1
2-179528604-G-A c.36390C>T p.I12130= Synonymous 170/363 - 1
2-179528621-GC-G c.36373del p.A12125Lfs*33 Frameshift 170/363 - 1
2-179528741-C-G c.36364+1G>C - IntronicSNV - 169/362 1
2-179528752-TG-T c.36353del p.P12118Hfs*40 Frameshift 169/363 - 1
2-179528772-G-A c.36334C>T p.P12112S Missense 169/363 - 1
2-179528778-C-T c.36328G>A p.V12110M Missense 169/363 - 1
2-179528788-T-C c.36318A>G p.K12106= Synonymous 169/363 - 1
2-179528796-C-T c.36310G>A p.E12104K Missense 169/363 - 1
2-179528807-T-A c.36299A>T p.E12100V Missense 169/363 - 1
2-179528820-C-A c.36286G>T p.E12096* Nonsense 169/363 - 1
2-179529387-C-T c.36196G>A p.D12066N Missense 167/363 - 1
2-179529457-T-G c.36126A>C p.E12042D Missense 167/363 - 1
2-179529599-CT-C c.36097del p.R12033Efs*125 Frameshift 166/363 - 1
2-179529622-G-T c.36075C>A p.A12025= Synonymous 166/363 - 1
2-179529622-G-C c.36075C>G p.A12025= Synonymous 166/363 - 1
2-179529622-G-A c.36075C>T p.A12025= Synonymous 166/363 - 1
2-179529623-G-T c.36074C>A p.A12025D Missense 166/363 - 1
2-179529627-G-A c.36070C>T p.P12024S Missense 166/363 - 2
2-179529636-C-T c.36061G>A p.E12021K Missense 166/363 - 1
2-179530107-T-A c.36040A>T p.K12014* Nonsense 165/363 - 2
2-179530128-CT-C c.36018del p.E12007Sfs*7 Frameshift 165/363 - 1
2-179530468-C-G c.35926G>C p.A11976P Missense 164/363 - 1
2-179530495-C-T c.35899G>A p.V11967I Missense 164/363 - 1
2-179531597-C-CT c.35828dup p.E11945Rfs*6 Frameshift 163/363 - 1
2-179531966-C-A c.35794G>T p.E11932* Nonsense 162/363 - 1
2-179532223-C-A c.35659G>T p.E11887* Nonsense 161/363 - 1
2-179532315-A-G c.35629+50T>C - IntronicSNV - 160/362 1
2-179534325-C-T c.35464G>A p.A11822T Missense 158/363 - 1
2-179534993-C-T c.35338G>A p.E11780K Missense 157/363 - 1
2-179534996-C-T c.35335G>A p.V11779I Missense 157/363 - 1
2-179535013-ACCT-A c.35315_35317del p.E11772del InFrameDeletion 157/363 - 1
2-179535858-G-T c.35267C>A p.P11756Q Missense 156/363 - 1
2-179535861-T-G c.35264A>C p.K11755T Missense 156/363 - 1
2-179535859-GT-G c.35265del p.K11755Nfs*25 Frameshift 156/363 - 1
2-179536700-T-A c.35225A>T p.K11742I Missense 155/363 - 1
2-179536737-C-T c.35188G>A p.E11730K Missense 155/363 - 1
2-179536848-C-T c.35077G>A p.E11693K Missense 155/363 - 1
2-179536878-C-T c.35047G>A p.E11683K Missense 155/363 - 1
2-179536943-A-G c.34982T>C p.V11661A Missense 155/363 - 1
2-179536955-C-T c.34970G>A p.R11657H Missense 155/363 - 1
2-179536959-A-T c.34966T>A p.F11656I Missense 155/363 - 1
2-179536961-G-A c.34964C>T p.A11655V Missense 155/363 - 1
2-179537132-A-G c.34930+2T>C - IntronicSNV - 154/362 1
2-179537145-G-A c.34919C>T p.P11640L Missense 154/363 - 1
2-179537169-A-AC c.34894_34895insG p.L11632Rfs*4 Frameshift 154/363 - 1
2-179537179-T-C c.34885A>G p.K11629E Missense 154/363 - 1
2-179537188-C-T c.34876G>A p.V11626I Missense 154/363 - 1
2-179537397-A-C c.34820T>G p.V11607G Missense 153/363 - 1
2-179538368-G-A c.34778C>T p.P11593L Missense 152/363 - 1
2-179538412-T-C c.34734A>G p.V11578= Synonymous 152/363 - 1
2-179539103-T-C c.34646A>G p.E11549G Missense 151/363 - 1
2-179539807-C-T c.34571G>A p.R11524Q Missense 150/363 - 1
2-179539812-T-G c.34566A>C p.E11522D Missense 150/363 - 2
2-179539831-A-G c.34547T>C p.V11516A Missense 150/363 - 1
2-179540434-G-A c.34501C>T p.P11501S Missense 149/363 - 1
2-179540455-G-A c.34480C>T p.P11494S Missense 149/363 - 1
2-179540461-G-T c.34474C>A p.P11492T Missense 149/363 - 1
2-179540710-T-C c.34391A>G p.K11464R Missense 148/363 - 1
2-179541940-G-A c.34366C>T p.P11456S Missense 147/363 - 1
2-179541961-G-A c.34345C>T p.P11449S Missense 147/363 - 1
2-179542389-ACTT-A c.34247_34249del p.E11416del InFrameDeletion 146/363 - 1
2-179542449-T-A c.34190A>T p.E11397V Missense 146/363 - 1
2-179542464-G-A c.34175C>T p.P11392L Missense 146/363 - 1
2-179542468-T-C c.34171A>G p.I11391V Missense 146/363 - 1
2-179542497-T-G c.34142A>C p.E11381A Missense 146/363 - 1
2-179542468-TTTCCTCTTCTTCAGGTAGAAC-T c.34150_34170del p.V11384_E11390del InFrameDeletion 146/363 - 1
2-179542501-C-A c.34138G>T p.E11380* Nonsense 146/363 - 1
2-179542536-T-A c.34103A>T p.E11368V Missense 146/363 - 1
2-179542567-C-A c.34072G>T p.V11358F Missense 146/363 - 1
2-179542600-G-C c.34039C>G p.Q11347E Missense 146/363 - 1
2-179542623-A-G c.34016T>C p.V11339A Missense 146/363 - 1
2-179542907-T-TG c.33938dup p.E11314Rfs*24 Frameshift 145/363 - 1
2-179542924-G-A c.33922C>T p.P11308S Missense 145/363 - 2
2-179542933-G-T c.33913C>A p.P11305T Missense 145/363 - 1
2-179543140-C-A c.33910+1G>T - IntronicSNV - 144/362 1
2-179543150-G-A c.33901C>T p.P11301S Missense 144/363 - 1
2-179543159-C-T c.33892G>A p.E11298K Missense 144/363 - 1
2-179543173-G-A c.33878C>T p.A11293V Missense 144/363 - 1
2-179543186-CCTT-C c.33862_33864del p.K11288del InFrameDeletion 144/363 - 1
2-179543195-C-T c.33856G>A p.E11286K Missense 144/363 - 1
2-179543217-C-T c.33834G>A p.E11278= Synonymous 144/363 - 1
2-179543219-C-A c.33832G>T p.E11278* Nonsense 144/363 - 1
2-179543546-G-T c.33754C>A p.P11252T Missense 143/363 - 1
2-179544107-G-A c.33701C>T p.P11234L Missense 142/363 - 1
2-179544117-C-T c.33691G>A p.E11231K Missense 142/363 - 1
2-179544334-G-A c.33656C>T p.P11219L Missense 141/363 - 1
2-179544394-C-A c.33596G>T p.R11199M Missense 141/363 - 1
2-179544406-G-A c.33584C>T p.P11195L Missense 141/363 - 1
2-179544677-T-C c.33524A>G p.H11175R Missense 140/363 - 1
2-179544722-G-A c.33479C>T p.T11160I Missense 140/363 - 1
2-179544757-T-G c.33444A>C p.E11148D Missense 140/363 - 1
2-179545038-C-G c.33361G>C p.V11121L Missense 139/363 - 1
2-179545839-C-T c.33307G>A p.E11103K Missense 138/363 - 1
2-179545859-C-T c.33287G>A p.R11096H Missense 138/363 - 4
2-179546128-CTTAGGAATGGGCACTGGTACT-C c.33201_33221del p.V11068_K11074del InFrameDeletion 137/363 - 1
2-179546133-G-T c.33217C>A p.P11073T Missense 137/363 - 1
2-179546159-G-T c.33191C>A p.P11064H Missense 137/363 - 1
2-179546396-G-A c.33164C>T p.P11055L Missense 136/363 - 1
2-179546433-G-A c.33127C>T p.P11043S Missense 136/363 - 1
2-179546437-AG-A c.33122del p.P11041Lfs*19 Frameshift 136/363 - 1
2-179546440-C-G c.33120G>C p.K11040N Missense 136/363 - 1
2-179546440-C-A c.33120G>T p.K11040N Missense 136/363 - 1
2-179546453-G-A c.33107C>T p.P11036L Missense 136/363 - 1
2-179547454-G-A c.33064C>T p.R11022* Nonsense 135/363 - 1
2-179547455-T-C c.33063A>G p.E11021= Synonymous 135/363 - 1
2-179547465-C-T c.33053G>A p.R11018Q Missense 135/363 - 1
2-179547472-C-T c.33046G>A p.E11016K Missense 135/363 - 1
2-179547504-G-A c.33014C>T p.P11005L Missense 135/363 - 1
2-179547514-C-A c.33004G>T p.E11002* Nonsense 135/363 - 1
2-179547542-A-T c.32976T>A p.Y10992* Nonsense 135/363 - 1
2-179547542-A-C c.32976T>G p.Y10992* Nonsense 135/363 - 1
2-179547564-C-G c.32954G>C p.R10985P Missense 135/363 - 1
2-179547579-G-A c.32939C>T p.A10980V Missense 135/363 - 1
2-179547602-CCT-ATG c.32914_32916delinsCAT p.R10972H Missense 135/363 - 1
2-179547971-C-G c.32854G>C p.E10952Q Missense 134/363 - 1
2-179548789-C-G c.32743G>C p.A10915P Missense 133/363 - 1
2-179548796-C-A c.32736G>T p.P10912= Synonymous 133/363 - 1
2-179548803-T-C c.32729A>G p.E10910G Missense 133/363 - 1
2-179549084-T-A c.32695A>T p.K10899* Nonsense 132/363 - 1
2-179549099-G-T c.32680C>A p.L10894I Missense 132/363 - 1
2-179549100-AA-CT c.32678_32679delinsAG p.V10893E Missense 132/363 - 1
2-179549407-G-A c.32624C>T p.P10875L Missense 131/363 - 1
2-179549412-T-C c.32619A>G p.E10873= Synonymous 131/363 - 1
2-179549438-C-G c.32593G>C p.V10865L Missense 131/363 - 1
2-179549439-C-G c.32592G>C p.K10864N Missense 131/363 - 1
2-179549439-C-A c.32592G>T p.K10864N Missense 131/363 - 1
2-179549474-G-A c.32557C>T p.P10853S Missense 131/363 - 1
2-179549626-AAT-A c.32554+5_32554+6del - IntronicDeletion - 130/362 1
2-179549675-G-C c.32512C>G p.P10838A Missense 130/363 - 1
2-179549705-G-A c.32482C>T p.P10828S Missense 130/363 - 1
2-179550201-G-C c.32392+44C>G - IntronicSNV - 128/362 1
2-179550264-C-A c.32373G>T p.V10791= Synonymous 128/363 - 1
2-179550264-C-T c.32373G>A p.V10791= Synonymous 128/363 - 1
2-179550264-C-G c.32373G>C p.V10791= Synonymous 128/363 - 1
2-179550270-C-T c.32367G>A p.K10789= Synonymous 128/363 - 1
2-179550287-G-C c.32350C>G p.L10784V Missense 128/363 - 1
2-179550317-C-T c.32320G>A p.E10774K Missense 128/363 - 1
2-179552895-C-T c.32254G>A p.V10752I Missense 127/363 - 1
2-179552896-T-G c.32253A>C p.S10751= Synonymous 127/363 - 1
2-179552924-G-A c.32225C>T p.S10742L Missense 127/363 - 1
2-179553505-G-A c.32096C>T p.A10699V Missense 126/363 - 1
2-179553730-ATTTT-A c.32095+46_32095+49del - IntronicDeletion - 125/362 1
2-179553780-C-T c.32095G>A p.A10699T Missense 125/363 - 1
2-179553789-G-T c.32086C>A p.P10696T Missense 125/363 - 1
2-179554022-G-A c.32006C>T p.P10669L Missense 124/363 - 1
2-179554029-G-A c.31999C>T p.P10667S Missense 124/363 - 1
2-179554093-T-G c.31935A>C p.E10645D Missense 124/363 - 1
2-179554093-T-A c.31935A>T p.E10645D Missense 124/363 - 1
2-179554285-T-A c.31884A>T p.K10628N Missense 123/363 - 1
2-179554305-C-T c.31864G>A p.G10622R Missense 123/363 - 3
2-179554305-C-G c.31864G>C p.G10622R Missense 123/363 - 1
2-179554549-G-C c.31837C>G p.P10613A Missense 122/363 - 1
2-179554556-T-C c.31830A>G p.E10610= Synonymous 122/363 - 1
2-179554582-G-T c.31804C>A p.P10602T Missense 122/363 - 1
2-179556753-A-G c.31752T>C p.A10584= Synonymous 121/363 - 1
2-179556785-G-A c.31720C>T p.P10574S Missense 121/363 - 2
2-179557268-G-A c.31634C>T p.A10545V Missense 120/363 - 1
2-179557305-G-A c.31597C>T p.P10533S Missense 120/363 - 1
2-179557307-A-G c.31595T>C p.V10532A Missense 120/363 - 1
2-179558366-T-C c.31564A>G p.I10522V Missense 119/363 - 4
2-179559353-C-T c.31399G>A p.V10467I Missense 117/363 - 1
2-179559362-G-A c.31390C>T p.R10464W Missense 117/363 - 1
2-179559368-G-T c.31384C>A p.P10462T Missense 117/363 - 1
2-179559580-C-T c.31324G>A p.E10442K Missense 116/363 - 1
2-179559591-C-T c.31313G>A p.R10438Q Missense 116/363 - 1
2-179560648-C-T c.31151G>A p.W10384* Nonsense 114/363 - 1
2-179560647-C-T c.31152G>A p.W10384* Nonsense 114/363 - 1
2-179560719-C-T c.31080G>A p.W10360* Nonsense 114/363 - 1
2-179560720-C-T c.31079G>A p.W10360* Nonsense 114/363 - 1
2-179560721-A-T c.31078T>A p.W10360R Missense 114/363 - 1
2-179560721-A-G c.31078T>C p.W10360R Missense 114/363 - 1
2-179560727-C-T c.31072G>A p.E10358K Missense 114/363 - 1
2-179560768-T-C c.31031A>G p.D10344G Missense 114/363 - 1
2-179560769-C-A c.31030G>T p.D10344Y Missense 114/363 - 1
2-179560788-A-T c.31011T>A p.Y10337* Nonsense 114/363 - 1
2-179560805-G-C c.30994C>G p.P10332A Missense 114/363 - 1
2-179560825-T-A c.30974A>T p.E10325V Missense 114/363 - 1
2-179560847-C-T c.30952G>A p.E10318K Missense 114/363 - 1
2-179560885-G-A c.30914C>T p.A10305V Missense 114/363 - 1
2-179560939-GTTATAGTCATTATTT-G c.30845_30859del p.K10282_I10286del InFrameDeletion 114/363 - 1
2-179560993-G-T c.30806C>A p.P10269H Missense 114/363 - 1
2-179563607-T-G c.30717A>C p.K10239N Missense 112/363 - 1
2-179565866-T-G c.30663A>C p.P10221= Synonymous 111/363 - 1
2-179565877-C-T c.30652G>A p.E10218K Missense 111/363 - 1
2-179565883-G-A c.30646C>T p.P10216S Missense 111/363 - 1
2-179565900-G-C c.30629C>G p.P10210R Missense 111/363 - 1
2-179566255-C-T c.30598G>A p.E10200K Missense 110/363 - 1
2-179566266-A-G c.30587T>C p.V10196A Missense 110/363 - 1
2-179566773-G-T c.30532C>A p.P10178T Missense 109/363 - 1
2-179566895-C-T c.30511G>A p.E10171K Missense 108/363 - 1
2-179566921-G-A c.30485C>T p.T10162M Missense 108/363 - 1
2-179566952-G-A c.30454C>T p.R10152W Missense 108/363 - 1
2-179566963-G-A c.30443C>T p.S10148L Missense 108/363 - 1
2-179567222-C-A c.30392G>T p.C10131F Missense 107/363 - 1
2-179567225-C-T c.30389G>A p.R10130H Missense 107/363 - 1
2-179567229-C-G c.30385G>C p.G10129R Missense 107/363 - 1
2-179567230-A-G c.30384T>C p.D10128= Synonymous 107/363 - 1
2-179567233-A-C c.30381T>G p.N10127K Missense 107/363 - 1
2-179567233-A-T c.30381T>A p.N10127K Missense 107/363 - 1
2-179567340-G-A c.30274C>T p.H10092Y Missense 107/363 - 1
2-179567352-C-T c.30262G>A p.V10088M Missense 107/363 - 1
2-179567366-C-T c.30248G>A p.R10083H Missense 107/363 - 1
2-179567383-T-C c.30231A>G p.P10077= Synonymous 107/363 - 1
2-179569054-G-C c.30043C>G p.P10015A Missense 106/363 - 1
2-179569057-C-T c.30040G>A p.V10014I Missense 106/363 - 1
2-179569387-T-A c.29812A>T p.T9938S Missense 105/363 - 1
2-179569400-C-T c.29799G>A p.S9933= Synonymous 105/363 - 1
2-179569436-A-G c.29763T>C p.I9921= Synonymous 105/363 - 1
2-179569637-T-C c.29661A>G p.V9887= Synonymous 104/363 - 1
2-179569637-T-A c.29661A>T p.V9887= Synonymous 104/363 - 1
2-179569637-T-G c.29661A>C p.V9887= Synonymous 104/363 - 1
2-179569642-G-A c.29656C>T p.L9886F Missense 104/363 - 1
2-179569648-C-T c.29650G>A p.E9884K Missense 104/363 - 1
2-179569648-C-G c.29650G>C p.E9884Q Missense 104/363 - 1
2-179569673-CCTCT-C c.29621_29624del p.E9874Gfs*28 Frameshift 104/363 - 1
2-179569964-G-A c.29541C>T p.F9847= Synonymous 103/363 - 1
2-179569999-C-T c.29506G>A p.E9836K Missense 103/363 - 1
2-179570029-G-C c.29476C>G p.L9826V Missense 103/363 - 2
2-179570034-A-G c.29471T>C p.M9824T Missense 103/363 - 1
2-179571185-T-G c.29416A>C p.K9806Q Missense 102/363 - 1
2-179571271-T-C c.29330A>G p.H9777R Missense 102/363 - 1
2-179571284-C-T c.29317G>A p.A9773T Missense 102/363 - 1
2-179571287-C-T c.29314G>A p.V9772M Missense 102/363 - 1
2-179571302-C-T c.29299G>A p.G9767R Missense 102/363 - 1
2-179571306-A-T c.29295T>A p.D9765E Missense 102/363 - 1
2-179571310-G-A c.29291C>T p.T9764I Missense 102/363 - 1
2-179571356-G-A c.29245C>T p.Q9749* Nonsense 102/363 - 1
2-179571374-C-A c.29227G>T p.G9743C Missense 102/363 - 1
2-179571406-G-A c.29195C>T p.T9732I Missense 102/363 - 1
2-179571448-A-G c.29153T>C p.I9718T Missense 102/363 - 1
2-179571604-T-C c.29119A>G p.I9707V Missense 101/363 - 1
2-179571644-C-A c.29079G>T p.A9693= Synonymous 101/363 - 1
2-179571652-T-C c.29071A>G p.K9691E Missense 101/363 - 1
2-179572311-C-T c.28983G>A p.V9661= Synonymous 100/363 - 1
2-179572314-A-G c.28980T>C p.Y9660= Synonymous 100/363 - 1
2-179572529-G-A c.28765C>T p.P9589S Missense 100/363 - 1
2-179572535-T-G c.28759A>C p.K9587Q Missense 100/363 - 1
2-179574299-T-A c.28747A>T p.I9583F Missense 99/363 - 1
2-179574322-G-A c.28724C>T p.A9575V Missense 99/363 - 1
2-179574384-C-T c.28662G>A p.R9554= Synonymous 99/363 - 1
2-179574466-C-A c.28580G>T p.W9527L Missense 99/363 - 1
2-179574470-C-T c.28576G>A p.A9526T Missense 99/363 - 1
2-179574497-C-T c.28549G>A p.V9517M Missense 99/363 - 1
2-179574539-C-T c.28507G>A p.V9503I Missense 99/363 - 2
2-179574553-C-T c.28493G>A p.R9498K Missense 99/363 - 1
2-179575361-C-A c.28462+1G>T - IntronicSNV - 98/362 1
2-179575470-C-T c.28354G>A p.A9452T Missense 98/363 - 1
2-179575511-C-T c.28313G>A p.R9438Q Missense 98/363 - 2
2-179575512-G-A c.28312C>T p.R9438* Nonsense 98/363 - 1
2-179575525-G-C c.28299C>G p.D9433E Missense 98/363 - 1
2-179575543-C-G c.28281G>C p.K9427N Missense 98/363 - 1
2-179575543-C-A c.28281G>T p.K9427N Missense 98/363 - 1
2-179575556-G-A c.28268C>T p.T9423I Missense 98/363 - 1
2-179575832-G-A c.28131C>T p.N9377= Synonymous 97/363 - 1
2-179575832-G-T c.28131C>A p.N9377K Missense 97/363 - 1
2-179575836-G-C c.28127C>G p.T9376R Missense 97/363 - 2
2-179575893-G-A c.28070C>T p.T9357I Missense 97/363 - 1
2-179575969-C-T c.27994G>A p.V9332M Missense 97/363 - 2
2-179575997-A-T c.27966T>A p.C9322* Nonsense 97/363 - 1
2-179576014-G-A c.27949C>T p.P9317S Missense 97/363 - 1
2-179576758-C-A c.27799G>T p.V9267F Missense 96/363 - 1
2-179576775-G-T c.27782C>A p.T9261K Missense 96/363 - 1
2-179576872-C-A c.27685G>T p.A9229S Missense 96/363 - 1
2-179576874-A-G c.27683T>C p.L9228P Missense 96/363 - 1
2-179576880-C-T c.27677G>A p.C9226Y Missense 96/363 - 1
2-179576905-C-T c.27652G>A p.V9218I Missense 96/363 - 1
2-179576946-G-A c.27611C>T p.P9204L Missense 96/363 - 1
2-179577068-G-T c.27581C>A p.S9194Y Missense 95/363 - 1
2-179577101-T-C c.27548A>G p.N9183S Missense 95/363 - 2
2-179577445-T-C c.27307A>G p.T9103A Missense 94/363 - 1
2-179577508-C-T c.27244G>A p.D9082N Missense 94/363 - 1
2-179577520-A-C c.27232T>G p.L9078V Missense 94/363 - 1
2-179577598-A-T c.27154T>A p.W9052R Missense 94/363 - 1
2-179577598-A-G c.27154T>C p.W9052R Missense 94/363 - 1
2-179577606-C-T c.27146G>A p.S9049N Missense 94/363 - 1
2-179577653-C-A c.27099G>T p.G9033= Synonymous 94/363 - 1
2-179577653-C-T c.27099G>A p.G9033= Synonymous 94/363 - 1
2-179577653-C-G c.27099G>C p.G9033= Synonymous 94/363 - 1
2-179577654-C-A c.27098G>T p.G9033V Missense 94/363 - 1
2-179577818-C-T c.27043G>A p.V9015M Missense 93/363 - 2
2-179577870-T-C c.26991A>G p.T8997= Synonymous 93/363 - 1
2-179577933-C-A c.26928G>T p.L8976= Synonymous 93/363 - 1
2-179577933-C-T c.26928G>A p.L8976= Synonymous 93/363 - 1
2-179577998-T-C c.26863A>G p.I8955V Missense 93/363 - 1
2-179578013-A-G c.26848T>C p.Y8950H Missense 93/363 - 1
2-179578043-C-T c.26818G>A p.G8940S Missense 93/363 - 1
2-179578061-C-T c.26800G>A p.E8934K Missense 93/363 - 1
2-179578096-C-T c.26765G>A p.R8922Q Missense 93/363 - 1
2-179578691-C-A c.26694G>T p.G8898= Synonymous 92/363 - 1
2-179578703-C-T c.26682G>A p.P8894= Synonymous 92/363 - 1
2-179578704-G-A c.26681C>T p.P8894L Missense 92/363 - 1
2-179578713-T-C c.26672A>G p.N8891S Missense 92/363 - 1
2-179578729-C-G c.26656G>C p.G8886R Missense 92/363 - 1
2-179578730-G-A c.26655C>T p.S8885= Synonymous 92/363 - 1
2-179578735-C-T c.26650G>A p.V8884I Missense 92/363 - 1
2-179578744-A-C c.26641T>G p.F8881V Missense 92/363 - 1
2-179578780-C-T c.26605G>A p.E8869K Missense 92/363 - 1
2-179578788-T-C c.26597A>G p.D8866G Missense 92/363 - 1
2-179578790-C-G c.26595G>C p.K8865N Missense 92/363 - 1
2-179578790-C-A c.26595G>T p.K8865N Missense 92/363 - 1
2-179578857-G-A c.26528C>T p.T8843M Missense 92/363 - 2
2-179578878-G-T c.26507C>A p.P8836Q Missense 92/363 - 1
2-179578882-T-A c.26503A>T p.K8835* Nonsense 92/363 - 1
2-179579018-C-G c.26482+1G>C - IntronicSNV - 91/362 1
2-179579025-C-A c.26476G>T p.V8826F Missense 91/363 - 1
2-179579033-G-A c.26468C>T p.T8823M Missense 91/363 - 1
2-179579035-G-C c.26466C>G p.A8822= Synonymous 91/363 - 1
2-179579070-T-G c.26431A>C p.I8811L Missense 91/363 - 1
2-179579074-A-T c.26427T>A p.C8809* Nonsense 91/363 - 1
2-179579083-T-C c.26418A>G p.K8806= Synonymous 91/363 - 1
2-179579093-T-C c.26408A>G p.N8803S Missense 91/363 - 4
2-179579121-A-C c.26380T>G p.L8794V Missense 91/363 - 1
2-179579212-T-C c.26289A>G p.E8763= Synonymous 91/363 - 1
2-179579256-C-T c.26245G>A p.V8749I Missense 91/363 - 2
2-179579278-C-T c.26223G>A p.K8741= Synonymous 91/363 - 1
2-179579289-A-G c.26212T>C p.F8738L Missense 91/363 - 1
2-179579287-A-T c.26214T>A p.F8738L Missense 91/363 - 1
2-179579287-A-C c.26214T>G p.F8738L Missense 91/363 - 1
2-179579749-C-A c.26164G>T p.G8722* Nonsense 90/363 - 1
2-179579752-C-T c.26161G>A p.V8721M Missense 90/363 - 1
2-179579755-C-G c.26158G>C p.D8720H Missense 90/363 - 1
2-179579788-C-T c.26125G>A p.D8709N Missense 90/363 - 1
2-179579822-T-A c.26091A>T p.L8697= Synonymous 90/363 - 1
2-179579833-C-T c.26080G>A p.E8694K Missense 90/363 - 1
2-179579857-C-T c.26056G>A p.G8686S Missense 90/363 - 1
2-179579872-T-C c.26041A>G p.R8681G Missense 90/363 - 1
2-179579878-C-G c.26035G>C p.D8679H Missense 90/363 - 1
2-179579883-T-C c.26030A>G p.Y8677C Missense 90/363 - 1
2-179579935-C-T c.25978G>A p.V8660I Missense 90/363 - 1
2-179579936-A-C c.25977T>G p.D8659E Missense 90/363 - 1
2-179579936-A-T c.25977T>A p.D8659E Missense 90/363 - 1
2-179579977-G-A c.25936C>T p.R8646C Missense 90/363 - 1
2-179580220-C-T c.25921G>A p.E8641K Missense 89/363 - 1
2-179580249-GGCAC-G c.25889_25892del p.S8630Tfs*7 Frameshift 89/363 - 1
2-179580278-G-A c.25863C>T p.T8621= Synonymous 89/363 - 1
2-179580286-C-A c.25855G>T p.D8619Y Missense 89/363 - 1
2-179580319-C-T c.25822G>A p.E8608K Missense 89/363 - 1
2-179580397-A-C c.25744T>G p.L8582V Missense 89/363 - 1
2-179580434-A-G c.25707T>C p.Y8569= Synonymous 89/363 - 1
2-179580440-T-C c.25701A>G p.T8567= Synonymous 89/363 - 1
2-179580440-T-A c.25701A>T p.T8567= Synonymous 89/363 - 1
2-179580440-T-G c.25701A>C p.T8567= Synonymous 89/363 - 1
2-179580457-T-G c.25684A>C p.K8562Q Missense 89/363 - 1
2-179580481-T-C c.25660A>G p.K8554E Missense 89/363 - 1
2-179581821-C-A c.25639+1G>T - IntronicSNV - 88/362 2
2-179581828-C-G c.25633G>C p.V8545L Missense 88/363 - 1
2-179581828-C-A c.25633G>T p.V8545L Missense 88/363 - 1
2-179581835-C-A c.25626G>T p.Q8542H Missense 88/363 - 2
2-179581842-G-A c.25619C>T p.S8540F Missense 88/363 - 1
2-179581845-C-A c.25616G>T p.C8539F Missense 88/363 - 1
2-179581898-G-A c.25563C>T p.G8521= Synonymous 88/363 - 1
2-179581898-G-C c.25563C>G p.G8521= Synonymous 88/363 - 1
2-179581898-G-T c.25563C>A p.G8521= Synonymous 88/363 - 1
2-179581915-G-A c.25546C>T p.L8516F Missense 88/363 - 1
2-179581937-T-G c.25524A>C p.E8508D Missense 88/363 - 1
2-179581937-T-A c.25524A>T p.E8508D Missense 88/363 - 1
2-179581948-T-A c.25513A>T p.T8505S Missense 88/363 - 1
2-179581964-TCC-ACA c.25495_25497delinsTGT p.G8499C Missense 88/363 - 1
2-179581968-G-A c.25493C>T p.P8498L<