PLG

PLG plasminogen

Annotation transcript: NM_000301.5

1492 unique variant annotations were identified in 811 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-161123302-G-A c.-35G>A - 5-UTRSNV 1/19 - 2
6-161123338-T-C c.2T>C p.M1? Missense 1/19 - 1
6-161123339-G-A c.3G>A p.M1? Missense 1/19 - 1
6-161123339-G-C c.3G>C p.M1? Missense 1/19 - 1
6-161123339-G-T c.3G>T p.M1? Missense 1/19 - 1
6-161123340-G-A c.4G>A p.E2K Missense 1/19 - 5
6-161123343-C-T c.7C>T p.H3Y Missense 1/19 - 1
6-161123345-T-C c.9T>C p.H3= Synonymous 1/19 - 1
6-161123346-A-G c.10A>G p.K4E Missense 1/19 - 5
6-161123348-G-A c.12G>A p.K4= Synonymous 1/19 - 2
6-161123349-G-A c.13G>A p.E5K Missense 1/19 - 5
6-161123349-G-C c.13G>C p.E5Q Missense 1/19 - 3
6-161123352-GTG-TTT c.16_18delinsTTT p.V6F Missense 1/19 - 1
6-161123353-T-A c.17T>A p.V6E Missense 1/19 - 1
6-161123355-G-T c.19G>T p.V7F Missense 1/19 - 1
6-161123356-T-C c.20T>C p.V7A Missense 1/19 - 1
6-161123357-T-C c.21T>C p.V7= Synonymous 1/19 - 1
6-161123358-C-A c.22C>A p.L8I Missense 1/19 - 3
6-161123361-C-G c.25C>G p.L9V Missense 1/19 - 1
6-161123362-T-A c.26T>A p.L9Q Missense 1/19 - 1
6-161123365-T-A c.29T>A p.L10H Missense 1/19 - 1
6-161123365-T-C c.29T>C p.L10P Missense 1/19 - 1
6-161123373-TT-GC c.37_38delinsGC p.F13A Missense 1/19 - 2
6-161123378-G-A c.42G>A p.L14= Synonymous 1/19 - 3
6-161123380-AA-TG c.44_45delinsTG p.K15M Missense 1/19 - 1
6-161123381-A-G c.45A>G p.K15= Synonymous 1/19 - 1
6-161123382-TCA-ATG c.46_48delinsATG p.S16M Missense 1/19 - 1
6-161123382-TCA-GAC c.46_48delinsGAC p.S16D Missense 1/19 - 2
6-161123382-T-G c.46T>G p.S16A Missense 1/19 - 2
6-161123383-CA-GT c.47_48delinsGT p.S16C Missense 1/19 - 2
6-161123383-CA-TT c.47_48delinsTT p.S16F Missense 1/19 - 1
6-161123383-C-T c.47C>T p.S16L Missense 1/19 - 1
6-161123386-G-A c.49+1G>A - IntronicSNV - 1/18 1
6-161123390-G-T c.49+5G>T - IntronicSNV - 1/18 1
6-161123413-G-T c.49+28G>T - IntronicSNV - 1/18 2
6-161123451-T-C c.49+66T>C - IntronicSNV - 1/18 13
6-161124125-C-CT c.49+740_49+741insT - IntronicInsertion - 1/18 1
6-161125419-T-C c.50-2020T>C - IntronicSNV - 1/18 2
6-161125556-T-C c.50-1883T>C - IntronicSNV - 1/18 1
6-161125631-T-C c.50-1808T>C - IntronicSNV - 1/18 2
6-161126323-C-A c.50-1116C>A - IntronicSNV - 1/18 1
6-161126323-C-T c.50-1116C>T - IntronicSNV - 1/18 1
6-161127440-T-A c.51T>A p.G17= Synonymous 2/19 - 1
6-161127440-T-C c.51T>C p.G17= Synonymous 2/19 - 1
6-161127440-T-G c.51T>G p.G17= Synonymous 2/19 - 1
6-161127442-A-G c.53A>G p.Q18R Missense 2/19 - 1
6-161127444-G-A c.55G>A p.G19R Missense 2/19 - 1
6-161127445-G-A c.56G>A p.G19E Missense 2/19 - 1
6-161127450-C-T c.61C>T p.P21S Missense 2/19 - 1
6-161127455-G-A c.66G>A p.L22= Synonymous 2/19 - 1
6-161127456-G-A c.67G>A p.D23N Missense 2/19 - 3
6-161127458-T-A c.69T>A p.D23E Missense 2/19 - 1
6-161127458-T-G c.69T>G p.D23E Missense 2/19 - 1
6-161127459-G-T c.70G>T p.D24Y Missense 2/19 - 2
6-161127459-TGAC-T c.70_72del p.D24del InFrameDeletion 2/19 - 1
6-161127463-A-G c.74A>G p.Y25C Missense 2/19 - 3
6-161127465-G-A c.76G>A p.V26M Missense 2/19 - 1
6-161127470-T-C c.81T>C p.N27= Synonymous 2/19 - 1
6-161127475-A-C c.86A>C p.Q29P Missense 2/19 - 1
6-161127476-G-C c.87G>C p.Q29H Missense 2/19 - 2
6-161127476-G-T c.87G>T p.Q29H Missense 2/19 - 2
6-161127477-G-A c.88G>A p.G30R Missense 2/19 - 1
6-161127478-G-A c.89G>A p.G30E Missense 2/19 - 3
6-161127478-G-C c.89G>C p.G30A Missense 2/19 - 1
6-161127478-GG-AC c.89_90delinsAC p.G30D Missense 2/19 - 1
6-161127479-G-A c.90G>A p.G30= Synonymous 2/19 - 1
6-161127479-G-C c.90G>C p.G30= Synonymous 2/19 - 1
6-161127479-G-T c.90G>T p.G30= Synonymous 2/19 - 1
6-161127480-G-C c.91G>C p.A31P Missense 2/19 - 1
6-161127481-C-T c.92C>T p.A31V Missense 2/19 - 4
6-161127481-GC-G c.92del p.A31Vfs*16 Frameshift 2/19 - 2
6-161127483-T-G c.94T>G p.S32A Missense 2/19 - 1
6-161127486-CTG-ATC c.97_99delinsATC p.L33I Missense 2/19 - 1
6-161127486-C-T c.97C>T p.L33= Synonymous 2/19 - 1
6-161127488-G-A c.99G>A p.L33= Synonymous 2/19 - 1
6-161127488-G-C c.99G>C p.L33= Synonymous 2/19 - 1
6-161127488-G-T c.99G>T p.L33= Synonymous 2/19 - 1
6-161127491-C-T c.102C>T p.F34= Synonymous 2/19 - 1
6-161127492-AG-GC c.103_104delinsGC p.S35A Missense 2/19 - 1
6-161127498-A-C c.109A>C p.T37P Missense 2/19 - 2
6-161127501-A-G c.112A>G p.K38E Missense 2/19 - 36
6-161127500-T-TA c.113dup p.K39Efs*16 Frameshift 2/19 - 1
6-161127502-A-G c.113A>G p.K38R Missense 2/19 - 1
6-161127505-A-G c.116A>G p.K39R Missense 2/19 - 1
6-161127509-G-C c.120G>C p.Q40H Missense 2/19 - 1
6-161127509-G-T c.120G>T p.Q40H Missense 2/19 - 1
6-161127510-C-A c.121C>A p.L41M Missense 2/19 - 2
6-161127510-C-T c.121C>T p.L41= Synonymous 2/19 - 3
6-161127512-G-A c.123G>A p.L41= Synonymous 2/19 - 2
6-161127512-G-C c.123G>C p.L41= Synonymous 2/19 - 2
6-161127512-G-T c.123G>T p.L41= Synonymous 2/19 - 2
6-161127516-G-A c.127G>A p.A43T Missense 2/19 - 1
6-161127517-CA-AC c.128_129delinsAC p.A43D Missense 2/19 - 1
6-161127517-C-T c.128C>T p.A43V Missense 2/19 - 1
6-161127520-G-A c.131G>A p.G44E Missense 2/19 - 4
6-161127523-G-T c.134G>T p.S45I Missense 2/19 - 1
6-161127522-A-C c.133A>C p.S45R Missense 2/19 - 2
6-161127524-T-A c.135T>A p.S45R Missense 2/19 - 2
6-161127524-T-G c.135T>G p.S45R Missense 2/19 - 2
6-161127526-T-C c.137T>C p.I46T Missense 2/19 - 2
6-161127526-T-G c.137T>G p.I46R Missense 2/19 - 3
6-161127528-G-A c.139G>A p.E47K Missense 2/19 - 7
6-161127532-A-G c.143A>G p.E48G Missense 2/19 - 9
6-161127537-GCA-TTT c.148_150delinsTTT p.A50F Missense 2/19 - 1
6-161127538-C-A c.149C>A p.A50E Missense 2/19 - 1
6-161127540-GC-AG c.151_152delinsAG p.A51R Missense 2/19 - 1
6-161127541-C-A c.152C>A p.A51E Missense 2/19 - 1
6-161127543-A-G c.154A>G p.K52E Missense 2/19 - 1
6-161127541-CA-C c.156del p.K52Nfs*23 Frameshift 2/19 - 1
6-161127547-G-A c.158G>A p.C53Y Missense 2/19 - 1
6-161127548-T-C c.159T>C p.C53= Synonymous 2/19 - 1
6-161127549-G-A c.160G>A p.E54K Missense 2/19 - 7
6-161127549-G-T c.160G>T p.E54* Nonsense 2/19 - 2
6-161127552-G-A c.163G>A p.E55K Missense 2/19 - 5
6-161127552-G-C c.163G>C p.E55Q Missense 2/19 - 1
6-161127552-G-T c.163G>T p.E55* Nonsense 2/19 - 2
6-161127554-G-A c.165G>A p.E55= Synonymous 2/19 - 5
6-161127555-G-A c.166G>A p.D56N Missense 2/19 - 2
6-161127555-GAC-TAA c.166_168delinsTAA p.D56* Nonsense 2/19 - 1
6-161127557-C-T c.168C>T p.D56= Synonymous 2/19 - 4
6-161127558-G-A c.169G>A p.E57K Missense 2/19 - 8
6-161127558-G-T c.169G>T p.E57* Nonsense 2/19 - 1
6-161127561-G-A c.172G>A p.E58K Missense 2/19 - 5
6-161127561-G-C c.172G>C p.E58Q Missense 2/19 - 1
6-161127564-T-C c.175T>C p.F59L Missense 2/19 - 1
6-161127566-C-A c.177C>A p.F59L Missense 2/19 - 1
6-161127566-C-G c.177C>G p.F59L Missense 2/19 - 1
6-161127570-T-A c.181T>A p.C61S Missense 2/19 - 1
6-161127573-AG-CT c.184_185inv p.R62L Missense 2/19 - 1
6-161127575-G-A c.185+1G>A - IntronicSNV - 2/18 1
6-161127578-T-C c.185+4T>C - IntronicSNV - 2/18 1
6-161127581-C-T c.185+7C>T - IntronicSNV - 2/18 1
6-161127573-A-C c.184A>C p.R62= Synonymous 2/19 - 1
6-161128732-G-A c.186G>A p.R62= Synonymous 3/19 - 1
6-161128743-A-G c.197A>G p.Y66C Missense 3/19 - 1
6-161128754-G-A c.208G>A p.E70K Missense 3/19 - 1
6-161128754-G-C c.208G>C p.E70Q Missense 3/19 - 1
6-161128756-G-A c.210G>A p.E70= Synonymous 3/19 - 1
6-161128758-A-C c.212A>C p.Q71P Missense 3/19 - 1
6-161128761-A-C c.215A>C p.Q72P Missense 3/19 - 2
6-161128761-A-T c.215A>T p.Q72L Missense 3/19 - 3
6-161128762-A-G c.216A>G p.Q72= Synonymous 3/19 - 1
6-161128764-G-A c.218G>A p.C73Y Missense 3/19 - 3
6-161128767-T-A c.221T>A p.V74E Missense 3/19 - 1
6-161128768-G-A c.222G>A p.V74= Synonymous 3/19 - 3
6-161128773-T-C c.227T>C p.M76T Missense 3/19 - 1
6-161128775-G-C c.229G>C p.A77P Missense 3/19 - 1
6-161128775-GCT-CAA c.229_231delinsCAA p.A77Q Missense 3/19 - 1
6-161128776-C-G c.230C>G p.A77G Missense 3/19 - 1
6-161128776-CT-AG c.230_231inv p.A77E Missense 3/19 - 1
6-161128778-G-A c.232G>A p.E78K Missense 3/19 - 1
6-161128784-A-G c.238A>G p.R80G Missense 3/19 - 1
6-161128785-G-C c.239G>C p.R80T Missense 3/19 - 1
6-161128784-A-C c.238A>C p.R80= Synonymous 3/19 - 3
6-161128786-G-A c.240G>A p.R80= Synonymous 3/19 - 5
6-161128788-A-G c.242A>G p.K81R Missense 3/19 - 1
6-161128793-TC-CG c.247_248delinsCG p.S83R Missense 3/19 - 1
6-161128794-C-T c.248C>T p.S83F Missense 3/19 - 5
6-161128795-C-A c.249C>A p.S83= Synonymous 3/19 - 1
6-161128796-A-G c.250A>G p.I84V Missense 3/19 - 4
6-161128800-T-A c.254T>A p.I85N Missense 3/19 - 1
6-161128801-C-A c.255C>A p.I85= Synonymous 3/19 - 1
6-161128803-T-C c.257T>C p.I86T Missense 3/19 - 1
6-161128806-G-A c.260G>A p.R87K Missense 3/19 - 1
6-161128806-G-T c.260G>T p.R87M Missense 3/19 - 1
6-161128807-G-A c.261G>A p.R87= Synonymous 3/19 - 2
6-161128807-G-T c.261G>T p.R87S Missense 3/19 - 1
6-161128811-A-G c.265A>G p.R89G Missense 3/19 - 1
6-161128812-G-A c.266G>A p.R89K Missense 3/19 - 6
6-161128812-G-C c.266G>C p.R89T Missense 3/19 - 4
6-161128813-A-C c.267A>C p.R89S Missense 3/19 - 1
6-161128813-A-T c.267A>T p.R89S Missense 3/19 - 1
6-161128814-GA-AG c.268_269delinsAG p.D90S Missense 3/19 - 1
6-161128819-A-C c.273A>C p.V91= Synonymous 3/19 - 1
6-161128819-A-G c.273A>G p.V91= Synonymous 3/19 - 1
6-161128819-A-T c.273A>T p.V91= Synonymous 3/19 - 1
6-161128820-GTT-ATG c.274_276delinsATG p.V92M Missense 3/19 - 2
6-161128827-T-C c.281T>C p.F94S Missense 3/19 - 1
6-161128830-A-C c.284A>C p.E95A Missense 3/19 - 1
6-161128834-G-A c.288G>A p.K96= Synonymous 3/19 - 1
6-161128835-A-C c.289A>C p.K97Q Missense 3/19 - 1
6-161128838-G-A c.292G>A p.V98M Missense 3/19 - 2
6-161128947-G-A c.292+109G>A - IntronicSNV - 3/18 1
6-161129013-G-A c.292+175G>A - IntronicSNV - 3/18 2
6-161129453-A-G c.292+615A>G - IntronicSNV - 3/18 1
6-161130002-T-A c.292+1164T>A - IntronicSNV - 3/18 3
6-161130202-CA-C c.292+1374del - IntronicDeletion - 3/18 1
6-161131487-C-G c.293-622C>G - IntronicSNV - 3/18 1
6-161131487-C-T c.293-622C>T - IntronicSNV - 3/18 1
6-161132113-T-A c.297T>A p.Y99* Nonsense 4/19 - 2
6-161132113-T-G c.297T>G p.Y99* Nonsense 4/19 - 1
6-161132116-C-A c.300C>A p.L100= Synonymous 4/19 - 1
6-161132116-C-G c.300C>G p.L100= Synonymous 4/19 - 1
6-161132116-C-T c.300C>T p.L100= Synonymous 4/19 - 1
6-161132117-TC-GG c.301_302delinsGG p.S101G Missense 4/19 - 1
6-161132118-C-T c.302C>T p.S101L Missense 4/19 - 3
6-161132125-C-T c.309C>T p.C103= Synonymous 4/19 - 1
6-161132127-A-C c.311A>C p.K104T Missense 4/19 - 2
6-161132127-A-G c.311A>G p.K104R Missense 4/19 - 1
6-161132127-A-T c.311A>T p.K104M Missense 4/19 - 3
6-161132128-G-A c.312G>A p.K104= Synonymous 4/19 - 1
6-161132128-G-C c.312G>C p.K104N Missense 4/19 - 1
6-161132128-G-T c.312G>T p.K104N Missense 4/19 - 1
6-161132130-C-T c.314C>T p.T105I Missense 4/19 - 1
6-161132132-G-A c.316G>A p.G106R Missense 4/19 - 3
6-161132132-G-T c.316G>T p.G106W Missense 4/19 - 2
6-161132138-GGA-AGC c.322_324delinsAGC p.G108S Missense 4/19 - 1
6-161132138-G-T c.322G>T p.G108* Nonsense 4/19 - 1
6-161132139-G-C c.323G>C p.G108A Missense 4/19 - 2
6-161132139-G-T c.323G>T p.G108V Missense 4/19 - 3
6-161132140-A-C c.324A>C p.G108= Synonymous 4/19 - 1
6-161132143-G-C c.327G>C p.K109N Missense 4/19 - 2
6-161132143-G-T c.327G>T p.K109N Missense 4/19 - 1
6-161132146-C-T c.330C>T p.N110= Synonymous 4/19 - 12
6-161132148-A-C c.332A>C p.Y111S Missense 4/19 - 1
6-161132150-A-G c.334A>G p.R112G Missense 4/19 - 2
6-161132151-G-A c.335G>A p.R112K Missense 4/19 - 1
6-161132151-G-T c.335G>T p.R112I Missense 4/19 - 2
6-161132156-A-C c.340A>C p.T114P Missense 4/19 - 1
6-161132156-A-G c.340A>G p.T114A Missense 4/19 - 2
6-161132157-C-T c.341C>T p.T114M Missense 4/19 - 5
6-161132158-G-A c.342G>A p.T114= Synonymous 4/19 - 2
6-161132158-G-C c.342G>C p.T114= Synonymous 4/19 - 1
6-161132158-G-T c.342G>T p.T114= Synonymous 4/19 - 3
6-161132162-T-C c.346T>C p.S116P Missense 4/19 - 3
6-161132166-A-G c.350A>G p.K117R Missense 4/19 - 1
6-161132168-A-G c.352A>G p.T118A Missense 4/19 - 1
6-161132170-A-G c.354A>G p.T118= Synonymous 4/19 - 4
6-161132173-A-T c.357A>T p.K119N Missense 4/19 - 1
6-161132169-CA-C c.359del p.N120Mfs*110 Frameshift 4/19 - 2
6-161132169-C-CA c.359dup p.N120Kfs*17 Frameshift 4/19 - 1
6-161132176-T-A c.360T>A p.N120K Missense 4/19 - 1
6-161132176-T-C c.360T>C p.N120= Synonymous 4/19 - 2
6-161132176-T-G c.360T>G p.N120K Missense 4/19 - 1
6-161132176-T-TA c.360_361insA p.G121Rfs*16 Frameshift 4/19 - 1
6-161132177-GG-AC c.361_362delinsAC p.G121T Missense 4/19 - 1
6-161132184-C-T c.368C>T p.T123I Missense 4/19 - 1
6-161132185-C-T c.369C>T p.T123= Synonymous 4/19 - 1
6-161132186-T-A c.370T>A p.C124S Missense 4/19 - 1
6-161132186-T-C c.370T>C p.C124R Missense 4/19 - 3
6-161132187-G-C c.371G>C p.C124S Missense 4/19 - 2
6-161132189-C-T c.373C>T p.Q125* Nonsense 4/19 - 4
6-161132189-CA-C c.378del p.K126Nfs*104 Frameshift 4/19 - 2
6-161132197-G-A c.381G>A p.W127* Nonsense 4/19 - 2
6-161132202-C-T c.386C>T p.S129F Missense 4/19 - 8
6-161132205-CT-TG c.389_390delinsTG p.T130M Missense 4/19 - 1
6-161132206-T-A c.390T>A p.T130= Synonymous 4/19 - 1
6-161132206-T-C c.390T>C p.T130= Synonymous 4/19 - 1
6-161132206-T-G c.390T>G p.T130= Synonymous 4/19 - 1
6-161132208-C-G c.392C>G p.S131C Missense 4/19 - 1
6-161132210-C-A c.394C>A p.P132T Missense 4/19 - 1
6-161132211-C-A c.395C>A p.P132H Missense 4/19 - 1
6-161132215-C-A c.399C>A p.H133Q Missense 4/19 - 5
6-161132215-C-G c.399C>G p.H133Q Missense 4/19 - 1
6-161132215-C-T c.399C>T p.H133= Synonymous 4/19 - 1
6-161132216-AGA-CAT c.400_402delinsCAT p.R134H Missense 4/19 - 1
6-161132217-G-A c.401G>A p.R134K Missense 4/19 - 4
6-161132217-G-T c.401G>T p.R134I Missense 4/19 - 4
6-161132219-C-T c.403C>T p.P135S Missense 4/19 - 1
6-161132220-C-T c.404C>T p.P135L Missense 4/19 - 1
6-161132221-T-C c.405T>C p.P135= Synonymous 4/19 - 1
6-161132221-T-G c.405T>G p.P135= Synonymous 4/19 - 1
6-161132223-G-T c.407G>T p.R136I Missense 4/19 - 2
6-161132231-A-G c.407+8A>G - IntronicSNV - 4/18 1
6-161132231-A-T c.407+8A>T - IntronicSNV - 4/18 1
6-161132266-T-G c.407+43T>G - IntronicSNV - 4/18 1
6-161132417-T-G c.407+194T>G - IntronicSNV - 4/18 1
6-161132485-A-C c.407+262A>C - IntronicSNV - 4/18 1
6-161132485-A-T c.407+262A>T - IntronicSNV - 4/18 1
6-161132616-T-C c.407+393T>C - IntronicSNV - 4/18 1
6-161132725-T-C c.407+502T>C - IntronicSNV - 4/18 2
6-161132804-T-C c.407+581T>C - IntronicSNV - 4/18 2
6-161132830-G-A c.407+607G>A - IntronicSNV - 4/18 7
6-161133046-C-T c.407+823C>T - IntronicSNV - 4/18 1
6-161132222-A-C c.406A>C p.R136= Synonymous 4/19 - 1
6-161134018-A-G c.408A>G p.R136= Synonymous 5/19 - 1
6-161134019-T-C c.409T>C p.F137L Missense 5/19 - 1
6-161134022-T-A c.412T>A p.S138T Missense 5/19 - 1
6-161134022-TCACCTGCTA-T c.416_424del p.P139_T141del InFrameDeletion 5/19 - 1
6-161134026-C-A c.416C>A p.P139H Missense 5/19 - 1
6-161134027-T-A c.417T>A p.P139= Synonymous 5/19 - 1
6-161134027-T-C c.417T>C p.P139= Synonymous 5/19 - 1
6-161134027-T-G c.417T>G p.P139= Synonymous 5/19 - 1
6-161134028-G-A c.418G>A p.A140T Missense 5/19 - 1
6-161134028-G-T c.418G>T p.A140S Missense 5/19 - 1
6-161134032-C-A c.422C>A p.T141K Missense 5/19 - 7
6-161134035-AC-A c.429del p.S144Qfs*86 Frameshift 5/19 - 2
6-161134040-CT-C c.430del p.S144Qfs*86 Frameshift 5/19 - 1
6-161134040-T-G c.430T>G p.S144A Missense 5/19 - 1
6-161134045-G-A c.435G>A p.E145= Synonymous 5/19 - 1
6-161134046-G-A c.436G>A p.G146R Missense 5/19 - 10
6-161134046-G-C c.436G>C p.G146R Missense 5/19 - 3
6-161134046-GGA-AGC c.436_438delinsAGC p.G146S Missense 5/19 - 5
6-161134047-G-A c.437G>A p.G146E Missense 5/19 - 1
6-161134050-T-C c.440T>C p.L147P Missense 5/19 - 1
6-161134055-G-A c.445G>A p.E149K Missense 5/19 - 2
6-161134059-A-T c.449A>T p.N150I Missense 5/19 - 3
6-161134060-C-T c.450C>T p.N150= Synonymous 5/19 - 1
6-161134061-T-C c.451T>C p.Y151H Missense 5/19 - 2
6-161134063-C-A c.453C>A p.Y151* Nonsense 5/19 - 1
6-161134063-C-G c.453C>G p.Y151* Nonsense 5/19 - 1
6-161134067-AGG-TGT c.457_459delinsTGT p.R153C Missense 5/19 - 1
6-161134068-G-A c.458G>A p.R153K Missense 5/19 - 1
6-161134069-G-A c.459G>A p.R153= Synonymous 5/19 - 5
6-161134071-A-G c.461A>G p.N154S Missense 5/19 - 2
6-161134073-C-A c.463C>A p.P155T Missense 5/19 - 1
6-161134076-G-A c.466G>A p.D156N Missense 5/19 - 1
6-161134078-C-A c.468C>A p.D156E Missense 5/19 - 1
6-161134081-C-T c.471C>T p.N157= Synonymous 5/19 - 2
6-161134082-G-A c.472G>A p.D158N Missense 5/19 - 12
6-161134082-G-C c.472G>C p.D158H Missense 5/19 - 1
6-161134082-G-T c.472G>T p.D158Y Missense 5/19 - 1
6-161134083-A-C c.473A>C p.D158A Missense 5/19 - 1
6-161134085-C-T c.475C>T p.P159S Missense 5/19 - 4
6-161134086-C-T c.476C>T p.P159L Missense 5/19 - 1
6-161134087-G-A c.477G>A p.P159= Synonymous 5/19 - 2
6-161134087-G-T c.477G>T p.P159= Synonymous 5/19 - 1
6-161134089-A-G c.479A>G p.Q160R Missense 5/19 - 3
6-161134089-A-T c.479A>T p.Q160L Missense 5/19 - 1
6-161134090-G-C c.480G>C p.Q160H Missense 5/19 - 2
6-161134090-G-T c.480G>T p.Q160H Missense 5/19 - 2
6-161134091-G-A c.481G>A p.G161R Missense 5/19 - 2
6-161134091-G-C c.481G>C p.G161R Missense 5/19 - 2
6-161134091-GG-AA c.481_482delinsAA p.G161K Missense 5/19 - 2
6-161134091-GG-AC c.481_482delinsAC p.G161T Missense 5/19 - 1
6-161134091-G-T c.481G>T p.G161W Missense 5/19 - 3
6-161134092-G-A c.482G>A p.G161E Missense 5/19 - 2
6-161134095-C-A c.485C>A p.P162H Missense 5/19 - 1
6-161134100-T-A c.490T>A p.C164S Missense 5/19 - 3
6-161134101-G-C c.491G>C p.C164S Missense 5/19 - 2
6-161134101-G-A c.491G>A p.C164Y Missense 5/19 - 1
6-161134103-T-C c.493T>C p.Y165H Missense 5/19 - 2
6-161134104-A-T c.494A>T p.Y165F Missense 5/19 - 1
6-161134106-A-T c.496A>T p.T166S Missense 5/19 - 5
6-161134107-C-G c.497C>G p.T166S Missense 5/19 - 3
6-161134110-C-G c.500C>G p.T167S Missense 5/19 - 1
6-161134112-G-C c.502G>C p.D168H Missense 5/19 - 3
6-161134115-C-A c.505C>A p.P169T Missense 5/19 - 5
6-161134115-C-G c.505C>G p.P169A Missense 5/19 - 3
6-161134115-C-T c.505C>T p.P169S Missense 5/19 - 2
6-161134116-C-G c.506C>G p.P169R Missense 5/19 - 2
6-161134118-G-A c.508G>A p.E170K Missense 5/19 - 1
6-161134119-A-C c.509A>C p.E170A Missense 5/19 - 2
6-161134119-A-T c.509A>T p.E170V Missense 5/19 - 3
6-161134124-A-G c.514A>G p.R172G Missense 5/19 - 5
6-161134124-AGA-CAT c.514_516delinsCAT p.R172H Missense 5/19 - 6
6-161134125-G-A c.515G>A p.R172K Missense 5/19 - 1
6-161134125-G-C c.515G>C p.R172T Missense 5/19 - 1
6-161134128-A-G c.518A>G p.Y173C Missense 5/19 - 1
6-161134133-T-A c.523T>A p.Y175N Missense 5/19 - 3
6-161134135-C-A c.525C>A p.Y175* Nonsense 5/19 - 1
6-161134138-C-CA c.528_529insA p.D177Rfs*4 Frameshift 5/19 - 1
6-161134138-C-T c.528C>T p.C176= Synonymous 5/19 - 4
6-161134139-G-A c.529G>A p.D177N Missense 5/19 - 7
6-161134142-A-C c.532A>C p.I178L Missense 5/19 - 1
6-161134145-C-T c.535C>T p.L179F Missense 5/19 - 4
6-161134147-T-A c.537T>A p.L179= Synonymous 5/19 - 1
6-161134147-T-C c.537T>C p.L179= Synonymous 5/19 - 1
6-161134147-T-G c.537T>G p.L179= Synonymous 5/19 - 1
6-161134148-G-T c.538G>T p.E180* Nonsense 5/19 - 1
6-161134150-G-C c.540G>C p.E180D Missense 5/19 - 1
6-161134150-G-T c.540G>T p.E180D Missense 5/19 - 1
6-161134151-TG-AC c.541_542delinsAC p.C181T Missense 5/19 - 2
6-161134152-G-A c.542G>A p.C181Y Missense 5/19 - 2
6-161134154-G-A c.544G>A p.E182K Missense 5/19 - 3
6-161134156-A-C c.546A>C p.E182D Missense 5/19 - 6
6-161134156-A-T c.546A>T p.E182D Missense 5/19 - 4
6-161134157-G-A c.547G>A p.E183K Missense 5/19 - 1
6-161134157-G-C c.547G>C p.E183Q Missense 5/19 - 2
6-161135202-C-T c.548-624C>T - IntronicSNV - 5/18 1
6-161135746-T-G c.548-80T>G - IntronicSNV - 5/18 3
6-161135827-G-A c.549G>A p.E183= Synonymous 6/19 - 1
6-161135827-G-C c.549G>C p.E183D Missense 6/19 - 1
6-161135827-G-T c.549G>T p.E183D Missense 6/19 - 1
6-161135828-G-A c.550G>A p.E184K Missense 6/19 - 5
6-161135828-G-C c.550G>C p.E184Q Missense 6/19 - 1
6-161135831-T-G c.553T>G p.C185G Missense 6/19 - 1
6-161135835-T-G c.557T>G p.M186R Missense 6/19 - 1
6-161135838-A-T c.560A>T p.H187L Missense 6/19 - 1
6-161135839-T-C c.561T>C p.H187= Synonymous 6/19 - 2
6-161135843-A-T c.565A>T p.S189C Missense 6/19 - 1
6-161135844-G-A c.566G>A p.S189N Missense 6/19 - 1
6-161135849-G-T c.571G>T p.E191* Nonsense 6/19 - 3
6-161135854-C-A c.576C>A p.N192K Missense 6/19 - 2
6-161135854-C-G c.576C>G p.N192K Missense 6/19 - 1
6-161135859-A-G c.581A>G p.D194G Missense 6/19 - 1
6-161135859-A-T c.581A>T p.D194V Missense 6/19 - 5
6-161135860-C-G c.582C>G p.D194E Missense 6/19 - 1
6-161135860-C-T c.582C>T p.D194= Synonymous 6/19 - 4
6-161135861-G-A c.583G>A p.G195S Missense 6/19 - 3
6-161135861-G-T c.583G>T p.G195C Missense 6/19 - 3
6-161135862-G-A c.584G>A p.G195D Missense 6/19 - 1
6-161135864-A-G c.586A>G p.K196E Missense 6/19 - 1
6-161135865-A-G c.587A>G p.K196R Missense 6/19 - 1
6-161135866-A-G c.588A>G p.K196= Synonymous 6/19 - 1
6-161135867-A-G c.589A>G p.I197V Missense 6/19 - 1
6-161135869-T-G c.591T>G p.I197M Missense 6/19 - 1
6-161135870-T-C c.592T>C p.S198P Missense 6/19 - 1
6-161135871-C-T c.593C>T p.S198F Missense 6/19 - 3
6-161135872-C-T c.594C>T p.S198= Synonymous 6/19 - 1
6-161135875-G-A c.597G>A p.K199= Synonymous 6/19 - 1
6-161135875-G-C c.597G>C p.K199N Missense 6/19 - 1
6-161135875-G-T c.597G>T p.K199N Missense 6/19 - 1
6-161135876-A-G c.598A>G p.T200A Missense 6/19 - 13
6-161135876-A-T c.598A>T p.T200S Missense 6/19 - 3
6-161135877-C-T c.599C>T p.T200I Missense 6/19 - 1
6-161135878-C-A c.600C>A p.T200= Synonymous 6/19 - 1
6-161135880-T-C c.602T>C p.M201T Missense 6/19 - 1
6-161135883-C-T c.605C>T p.S202F Missense 6/19 - 1
6-161135885-G-A c.607G>A p.G203R Missense 6/19 - 1
6-161135886-G-C c.608G>C p.G203A Missense 6/19 - 2
6-161135890-G-A c.612G>A p.L204= Synonymous 6/19 - 1
6-161135891-G-A c.613G>A p.E205K Missense 6/19 - 1
6-161135894-T-G c.616T>G p.C206G Missense 6/19 - 1
6-161135895-G-A c.617G>A p.C206Y Missense 6/19 - 1
6-161135897-C-G c.619C>G p.Q207E Missense 6/19 - 1
6-161135900-G-T c.622G>T p.A208S Missense 6/19 - 2
6-161135901-C-T c.623C>T p.A208V Missense 6/19 - 1
6-161135903-T-A c.625T>A p.W209R Missense 6/19 - 2
6-161135903-T-C c.625T>C p.W209R Missense 6/19 - 2
6-161135904-G-T c.626G>T p.W209L Missense 6/19 - 4
6-161135905-G-A c.627G>A p.W209* Nonsense 6/19 - 2
6-161135906-G-A c.628G>A p.D210N Missense 6/19 - 1
6-161135906-G-T c.628G>T p.D210Y Missense 6/19 - 5
6-161135908-C-A c.630C>A p.D210E Missense 6/19 - 1
6-161135908-C-G c.630C>G p.D210E Missense 6/19 - 1
6-161135909-T-C c.631T>C p.S211P Missense 6/19 - 1
6-161135910-C-T c.632C>T p.S211F Missense 6/19 - 3
6-161135912-C-G c.634C>G p.Q212E Missense 6/19 - 1
6-161135912-C-T c.634C>T p.Q212* Nonsense 6/19 - 3
6-161135913-A-G c.635A>G p.Q212R Missense 6/19 - 1
6-161135915-A-G c.637A>G p.S213G Missense 6/19 - 1
6-161135916-G-A c.638G>A p.S213N Missense 6/19 - 1
6-161135915-A-C c.637A>C p.S213R Missense 6/19 - 1
6-161135917-C-A c.639C>A p.S213R Missense 6/19 - 1
6-161135917-C-G c.639C>G p.S213R Missense 6/19 - 1
6-161135917-C-T c.639C>T p.S213= Synonymous 6/19 - 3
6-161135918-C-T c.640C>T p.P214S Missense 6/19 - 1
6-161135919-C-T c.641C>T p.P214L Missense 6/19 - 3
6-161135923-C-A c.645C>A p.H215Q Missense 6/19 - 2
6-161135923-C-G c.645C>G p.H215Q Missense 6/19 - 6
6-161135924-G-A c.646G>A p.A216T Missense 6/19 - 2
6-161135924-G-T c.646G>T p.A216S Missense 6/19 - 3
6-161135925-C-T c.647C>T p.A216V Missense 6/19 - 1
6-161135926-T-A c.648T>A p.A216= Synonymous 6/19 - 2
6-161135926-T-C c.648T>C p.A216= Synonymous 6/19 - 2
6-161135926-T-G c.648T>G p.A216= Synonymous 6/19 - 3
6-161135928-A-G c.650A>G p.H217R Missense 6/19 - 1
6-161135931-G-A c.653G>A p.G218E Missense 6/19 - 2
6-161135931-G-C c.653G>C p.G218A Missense 6/19 - 1
6-161135933-T-A c.655T>A p.Y219N Missense 6/19 - 1
6-161135933-T-C c.655T>C p.Y219H Missense 6/19 - 1
6-161135936-A-T c.658A>T p.I220F Missense 6/19 - 1
6-161135939-C-T c.661C>T p.P221S Missense 6/19 - 4
6-161135942-T-C c.664T>C p.S222P Missense 6/19 - 1
6-161135943-C-A c.665C>A p.S222Y Missense 6/19 - 1
6-161135944-C-T c.666C>T p.S222= Synonymous 6/19 - 1
6-161135945-A-T c.667A>T p.K223* Nonsense 6/19 - 5
6-161136058-T-A c.668+112T>A - IntronicSNV - 6/18 5
6-161136294-G-A c.668+348G>A - IntronicSNV - 6/18 1
6-161137518-T-C c.669-159T>C - IntronicSNV - 6/18 1
6-161137523-T-A c.669-154T>A - IntronicSNV - 6/18 4
6-161137523-T-C c.669-154T>C - IntronicSNV - 6/18 4
6-161137663-T-G c.669-14T>G - IntronicSNV - 6/18 5
6-161137679-T-C c.671T>C p.F224S Missense 7/19 - 1
6-161137681-C-G c.673C>G p.P225A Missense 7/19 - 1
6-161137681-C-T c.673C>T p.P225S Missense 7/19 - 5
6-161137686-C-A c.678C>A p.N226K Missense 7/19 - 1
6-161137693-C-A c.685C>A p.L229M Missense 7/19 - 1
6-161137696-A-T c.688A>T p.K230* Nonsense 7/19 - 1
6-161137699-A-C c.691A>C p.K231Q Missense 7/19 - 1
6-161137694-TGAA-T c.693_695del p.K231del InFrameDeletion 7/19 - 2
6-161137701-G-C c.693G>C p.K231N Missense 7/19 - 1
6-161137701-G-T c.693G>T p.K231N Missense 7/19 - 1
6-161137705-T-C c.697T>C p.Y233H Missense 7/19 - 2
6-161137707-C-T c.699C>T p.Y233= Synonymous 7/19 - 2
6-161137709-G-C c.701G>C p.C234S Missense 7/19 - 1
6-161137709-G-T c.701G>T p.C234F Missense 7/19 - 1
6-161137711-C-T c.703C>T p.R235C Missense 7/19 - 1
6-161137712-G-A c.704G>A p.R235H Missense 7/19 - 5
6-161137716-C-A c.708C>A p.N236K Missense 7/19 - 2
6-161137716-C-G c.708C>G p.N236K Missense 7/19 - 2
6-161137716-C-T c.708C>T p.N236= Synonymous 7/19 - 1
6-161137717-C-T c.709C>T p.P237S Missense 7/19 - 2
6-161137718-C-A c.710C>A p.P237H Missense 7/19 - 1
6-161137719-C-A c.711C>A p.P237= Synonymous 7/19 - 1
6-161137719-C-G c.711C>G p.P237= Synonymous 7/19 - 1
6-161137719-C-T c.711C>T p.P237= Synonymous 7/19 - 2
6-161137720-G-A c.712G>A p.D238N Missense 7/19 - 5
6-161137720-G-C c.712G>C p.D238H Missense 7/19 - 1
6-161137724-G-A c.716G>A p.R239K Missense 7/19 - 3
6-161137724-G-T c.716G>T p.R239M Missense 7/19 - 1
6-161137725-G-A c.717G>A p.R239= Synonymous 7/19 - 1
6-161137725-G-C c.717G>C p.R239S Missense 7/19 - 1
6-161137727-A-G c.719A>G p.E240G Missense 7/19 - 1
6-161137728-G-T c.720G>T p.E240D Missense 7/19 - 1
6-161137729-C-A c.721C>A p.L241M Missense 7/19 - 2
6-161137732-CGG-AGC c.724_726delinsAGC p.R242S Missense 7/19 - 1
6-161137732-C-T c.724C>T p.R242W Missense 7/19 - 4
6-161137733-G-A c.725G>A p.R242Q Missense 7/19 - 8
6-161137735-C-T c.727C>T p.P243S Missense 7/19 - 2
6-161137736-C-T c.728C>T p.P243L Missense 7/19 - 1
6-161137738-T-C c.730T>C p.W244R Missense 7/19 - 2
6-161137739-G-A c.731G>A p.W244* Nonsense 7/19 - 1
6-161137740-G-A c.732G>A p.W244* Nonsense 7/19 - 1
6-161137740-G-T c.732G>T p.W244C Missense 7/19 - 1
6-161137741-TG-AC c.733_734delinsAC p.C245T Missense 7/19 - 1
6-161137746-C-A c.738C>A p.F246L Missense 7/19 - 2
6-161137748-C-A c.740C>A p.T247N Missense 7/19 - 1
6-161137748-CC-AG c.740_741delinsAG p.T247K Missense 7/19 - 1
6-161137751-C-G c.743C>G p.T248S Missense 7/19 - 1
6-161137751-C-T c.743C>T p.T248I Missense 7/19 - 3
6-161137752-C-A c.744C>A p.T248= Synonymous 7/19 - 1
6-161137752-C-T c.744C>T p.T248= Synonymous 7/19 - 1
6-161137753-G-A c.745G>A p.D249N Missense 7/19 - 4
6-161137753-G-T c.745G>T p.D249Y Missense 7/19 - 2
6-161137754-A-T c.746A>T p.D249V Missense 7/19 - 1
6-161137755-C-A c.747C>A p.D249E Missense 7/19 - 8
6-161137755-C-G c.747C>G p.D249E Missense 7/19 - 5
6-161137756-C-A c.748C>A p.P250T Missense 7/19 - 1
6-161137757-C-T c.749C>T p.P250L Missense 7/19 - 1
6-161137764-G-C c.756G>C p.K252N Missense 7/19 - 1
6-161137765-C-T c.757C>T p.R253C Missense 7/19 - 1
6-161137766-G-A c.758G>A p.R253H Missense 7/19 - 12
6-161137766-G-T c.758G>T p.R253L Missense 7/19 - 1
6-161137769-G-T c.761G>T p.W254L Missense 7/19 - 3
6-161137770-G-A c.762G>A p.W254* Nonsense 7/19 - 1
6-161137771-G-A c.763G>A p.E255K Missense 7/19 - 7
6-161137775-TT-AA c.767_768inv p.L256Q Missense 7/19 - 1
6-161137777-T-A c.769T>A p.C257S Missense 7/19 - 1
6-161137778-G-C c.770G>C p.C257S Missense 7/19 - 1
6-161137779-T-C c.771T>C p.C257= Synonymous 7/19 - 24
6-161137780-G-A c.772G>A p.D258N Missense 7/19 - 4
6-161137785-C-A c.777C>A p.I259= Synonymous 7/19 - 1
6-161137785-C-T c.777C>T p.I259= Synonymous 7/19 - 2
6-161137786-C-T c.778C>T p.P260S Missense 7/19 - 3
6-161137788-C-A c.780C>A p.P260= Synonymous 7/19 - 2
6-161137788-C-G c.780C>G p.P260= Synonymous 7/19 - 2
6-161137788-C-T c.780C>T p.P260= Synonymous 7/19 - 2
6-161137789-C-T c.781C>T p.R261C Missense 7/19 - 3
6-161137790-G-A c.782G>A p.R261H Missense 7/19 - 21
6-161137790-G-C c.782G>C p.R261P Missense 7/19 - 6
6-161137791-C-A c.783C>A p.R261= Synonymous 7/19 - 4
6-161137791-C-G c.783C>G p.R261= Synonymous 7/19 - 2
6-161137791-C-T c.783C>T p.R261= Synonymous 7/19 - 2
6-161137798-G-A c.787+3G>A - IntronicSNV - 7/18 1
6-161137866-G-C c.787+71G>C - IntronicSNV - 7/18 1
6-161137990-G-A c.787+195G>A - IntronicSNV - 7/18 13
6-161139058-C-G c.788-268C>G - IntronicSNV - 7/18 2
6-161139058-C-T c.788-268C>T - IntronicSNV - 7/18 2
6-161139326-CA-TG c.788_789inv p.T263M Missense 8/19 - 1
6-161139328-AC-GG c.790_791delinsGG p.T264G Missense 8/19 - 1
6-161139329-C-G c.791C>G p.T264R Missense 8/19 - 1
6-161139331-C-A c.793C>A p.P265T Missense 8/19 - 2
6-161139331-C-T c.793C>T p.P265S Missense 8/19 - 1
6-161139332-C-T c.794C>T p.P265L Missense 8/19 - 5
6-161139334-C-T c.796C>T p.P266S Missense 8/19 - 1
6-161139335-C-T c.797C>T p.P266L Missense 8/19 - 1
6-161139336-A-C c.798A>C p.P266= Synonymous 8/19 - 1
6-161139336-A-G c.798A>G p.P266= Synonymous 8/19 - 1
6-161139336-A-T c.798A>T p.P266= Synonymous 8/19 - 1
6-161139341-C-T c.803C>T p.S268F Missense 8/19 - 1
6-161139343-TC-CT c.805_806delinsCT p.S269L Missense 8/19 - 2
6-161139344-C-A c.806C>A p.S269Y Missense 8/19 - 2
6-161139344-C-T c.806C>T p.S269F Missense 8/19 - 1
6-161139345-T-A c.807T>A p.S269= Synonymous 8/19 - 3
6-161139345-T-C c.807T>C p.S269= Synonymous 8/19 - 1
6-161139345-T-G c.807T>G p.S269= Synonymous 8/19 - 1
6-161139346-G-T c.808G>T p.G270C Missense 8/19 - 1
6-161139347-G-A c.809G>A p.G270D Missense 8/19 - 1
6-161139347-GT-AG c.809_810delinsAG p.G270E Missense 8/19 - 1
6-161139348-T-A c.810T>A p.G270= Synonymous 8/19 - 1
6-161139349-C-A c.811C>A p.P271T Missense 8/19 - 1
6-161139349-C-T c.811C>T p.P271S Missense 8/19 - 2
6-161139357-C-T c.819C>T p.Y273= Synonymous 8/19 - 1
6-161139358-C-G c.820C>G p.Q274E Missense 8/19 - 1
6-161139366-G-A c.828G>A p.L276= Synonymous 8/19 - 1
6-161139370-G-A c.832G>A p.G278R Missense 8/19 - 2
6-161139370-G-C c.832G>C p.G278R Missense 8/19 - 2
6-161139371-G-A c.833G>A p.G278E Missense 8/19 - 5
6-161139372-A-C c.834A>C p.G278= Synonymous 8/19 - 1
6-161139372-A-G c.834A>G p.G278= Synonymous 8/19 - 1
6-161139372-A-T c.834A>T p.G278= Synonymous 8/19 - 1
6-161139373-A-T c.835A>T p.T279S Missense 8/19 - 1
6-161139374-C-A c.836C>A p.T279K Missense 8/19 - 4
6-161139376-G-A c.838G>A p.G280S Missense 8/19 - 1
6-161139379-G-A c.841G>A p.E281K Missense 8/19 - 2
6-161139381-A-C c.843A>C p.E281D Missense 8/19 - 2
6-161139381-A-T c.843A>T p.E281D Missense 8/19 - 2
6-161139384-C-T c.846C>T p.N282= Synonymous 8/19 - 1
6-161139388-C-T c.850C>T p.R284C Missense 8/19 - 6
6-161139389-G-A c.851G>A p.R284H Missense 8/19 - 9
6-161139389-G-T c.851G>T p.R284L Missense 8/19 - 1
6-161139390-C-A c.852C>A p.R284= Synonymous 8/19 - 2
6-161139390-C-G c.852C>G p.R284= Synonymous 8/19 - 2
6-161139390-C-T c.852C>T p.R284= Synonymous 8/19 - 4
6-161139391-G-A c.853G>A p.G285R Missense 8/19 - 4
6-161139391-G-C c.853G>C p.G285R Missense 8/19 - 2
6-161139391-GGG-TGT c.853_855delinsTGT p.G285C Missense 8/19 - 1
6-161139391-G-T c.853G>T p.G285W Missense 8/19 - 1
6-161139393-G-A c.855G>A p.G285= Synonymous 8/19 - 3
6-161139397-G-C c.859G>C p.V287L Missense 8/19 - 5
6-161139397-G-T c.859G>T p.V287L Missense 8/19 - 3
6-161139400-G-A c.862G>A p.A288T Missense 8/19 - 1
6-161139400-G-T c.862G>T p.A288S Missense 8/19 - 1
6-161139402-T-A c.864T>A p.A288= Synonymous 8/19 - 2
6-161139402-T-C c.864T>C p.A288= Synonymous 8/19 - 1
6-161139402-T-G c.864T>G p.A288= Synonymous 8/19 - 1
6-161139403-G-A c.865G>A p.V289I Missense 8/19 - 1
6-161139406-A-C c.868A>C p.T290P Missense 8/19 - 1
6-161139406-A-T c.868A>T p.T290S Missense 8/19 - 1
6-161139407-CC-GG c.869_870inv p.T290R Missense 8/19 - 1
6-161139407-C-G c.869C>G p.T290S Missense 8/19 - 1
6-161139407-C-T c.869C>T p.T290I Missense 8/19 - 2
6-161139408-C-A c.870C>A p.T290= Synonymous 8/19 - 1
6-161139408-C-G c.870C>G p.T290= Synonymous 8/19 - 1
6-161139408-C-T c.870C>T p.T290= Synonymous 8/19 - 2
6-161139409-G-A c.871G>A p.V291M Missense 8/19 - 3
6-161139413-C-G c.875C>G p.S292C Missense 8/19 - 4
6-161139414-C-A c.876C>A p.S292= Synonymous 8/19 - 1
6-161139414-C-G c.876C>G p.S292= Synonymous 8/19 - 1
6-161139414-C-T c.876C>T p.S292= Synonymous 8/19 - 4
6-161139416-G-A c.878G>A p.G293E Missense 8/19 - 3
6-161139417-GCA-G c.883_884del p.T295Lfs*13 Frameshift 8/19 - 1
6-161139427-C-G c.889C>G p.Q297E Missense 8/19 - 1
6-161139427-C-T c.889C>T p.Q297* Nonsense 8/19 - 1
6-161139433-T-A c.895T>A p.W299R Missense 8/19 - 1
6-161139435-G-GA c.898dup p.S300Kfs*9 Frameshift 8/19 - 1
6-161139437-G-C c.899G>C p.S300T Missense 8/19 - 1
6-161139439-G-T c.901G>T p.A301S Missense 8/19 - 3
6-161139442-C-A c.904C>A p.Q302K Missense 8/19 - 1
6-161139442-C-T c.904C>T p.Q302* Nonsense 8/19 - 1
6-161139445-A-G c.907A>G p.T303A Missense 8/19 - 1
6-161139446-C-A c.908C>A p.T303N Missense 8/19 - 1
6-161139446-C-T c.908C>T p.T303I Missense 8/19 - 1
6-161139448-C-A c.910C>A p.P304T Missense 8/19 - 1
6-161139449-C-T c.911C>T p.P304L Missense 8/19 - 4
6-161139451-C-T c.913C>T p.H305Y Missense 8/19 - 1
6-161139454-A-C c.916A>C p.T306P Missense 8/19 - 1
6-161139454-A-G c.916A>G p.T306A Missense 8/19 - 1
6-161139455-C-A c.917C>A p.T306K Missense 8/19 - 1
6-161139455-CA-TG c.917_918inv p.T306M Missense 8/19 - 1
6-161139457-AC-A c.919del p.H307Ifs*64 Frameshift 8/19 - 2
6-161139469-C-G c.931C>G p.P311A Missense 8/19 - 1
6-161139471-CA-C c.933del p.E312Kfs*59 Frameshift 8/19 - 1
6-161139475-A-G c.937A>G p.N313D Missense 8/19 - 1
6-161139476-A-C c.938A>C p.N313T Missense 8/19 - 1
6-161139480-C-T c.942C>T p.F314= Synonymous 8/19 - 19
6-161139481-C-T c.943C>T p.P315S Missense 8/19 - 1
6-161139485-G-A c.947G>A p.C316Y Missense 8/19 - 1
6-161139489-G-T c.950+1G>T - IntronicSNV - 8/18 1
6-161139502-G-A c.950+14G>A - IntronicSNV - 8/18 9
6-161139725-A-C c.951A>C p.K317N Missense 9/19 - 1
6-161139725-A-T c.951A>T p.K317N Missense 9/19 - 1
6-161139726-A-G c.952A>G p.N318D Missense 9/19 - 1
6-161139729-T-C c.955T>C p.L319= Synonymous 9/19 - 2
6-161139731-G-A c.957G>A p.L319= Synonymous 9/19 - 3
6-161139732-G-A c.958G>A p.D320N Missense 9/19 - 2
6-161139732-G-C c.958G>C p.D320H Missense 9/19 - 1
6-161139735-G-A c.961G>A p.E321K Missense 9/19 - 1
6-161139736-A-G c.962A>G p.E321G Missense 9/19 - 1
6-161139737-A-G c.963A>G p.E321= Synonymous 9/19 - 3
6-161139739-A-G c.965A>G p.N322S Missense 9/19 - 1
6-161139740-C-T c.966C>T p.N322= Synonymous 9/19 - 1
6-161139742-A-G c.968A>G p.Y323C Missense 9/19 - 1
6-161139745-G-A c.971G>A p.C324Y Missense 9/19 - 1
6-161139746-C-T c.972C>T p.C324= Synonymous 9/19 - 1
6-161139747-C-T c.973C>T p.R325C Missense 9/19 - 1
6-161139748-G-A c.974G>A p.R325H Missense 9/19 - 1
6-161139748-G-T c.974G>T p.R325L Missense 9/19 - 1
6-161139753-C-A c.979C>A p.P327T Missense 9/19 - 1
6-161139753-C-T c.979C>T p.P327S Missense 9/19 - 1
6-161139754-C-A c.980C>A p.P327H Missense 9/19 - 1
6-161139757-A-G c.983A>G p.D328G Missense 9/19 - 2
6-161139758-C-A c.984C>A p.D328E Missense 9/19 - 4
6-161139758-C-G c.984C>G p.D328E Missense 9/19 - 4
6-161139758-C-T c.984C>T p.D328= Synonymous 9/19 - 3
6-161139759-G-A c.985G>A p.G329R Missense 9/19 - 1
6-161139759-G-C c.985G>C p.G329R Missense 9/19 - 1
6-161139759-GGA-AGC c.985_987delinsAGC p.G329S Missense 9/19 - 1
6-161139758-CG-C c.986del p.G329Efs*42 Frameshift 9/19 - 1
6-161139760-G-A c.986G>A p.G329E Missense 9/19 - 6
6-161139760-G-C c.986G>C p.G329A Missense 9/19 - 1
6-161139761-A-C c.987A>C p.G329= Synonymous 9/19 - 1
6-161139761-A-G c.987A>G p.G329= Synonymous 9/19 - 1
6-161139761-A-T c.987A>T p.G329= Synonymous 9/19 - 1
6-161139762-A-C c.988A>C p.K330Q Missense 9/19 - 1
6-161139762-A-G c.988A>G p.K330E Missense 9/19 - 23
6-161139763-A-T c.989A>T p.K330I Missense 9/19 - 2
6-161139765-A-G c.991A>G p.R331G Missense 9/19 - 2
6-161139766-G-T c.992G>T p.R331M Missense 9/19 - 1
6-161139765-A-C c.991A>C p.R331= Synonymous 9/19 - 1
6-161139767-G-A c.993G>A p.R331= Synonymous 9/19 - 1
6-161139767-G-C c.993G>C p.R331S Missense 9/19 - 1
6-161139767-G-T c.993G>T p.R331S Missense 9/19 - 4
6-161139768-G-A c.994G>A p.A332T Missense 9/19 - 1
6-161139768-GC-TG c.994_995delinsTG p.A332C Missense 9/19 - 1
6-161139770-C-A c.996C>A p.A332= Synonymous 9/19 - 4
6-161139770-C-G c.996C>G p.A332= Synonymous 9/19 - 3
6-161139770-C-T c.996C>T p.A332= Synonymous 9/19 - 3
6-161139771-C-T c.997C>T p.P333S Missense 9/19 - 3
6-161139772-C-T c.998C>T p.P333L Missense 9/19 - 2
6-161139775-G-A c.1001G>A p.W334* Nonsense 9/19 - 4
6-161139776-G-A c.1002G>A p.W334* Nonsense 9/19 - 3
6-161139776-G-C c.1002G>C p.W334C Missense 9/19 - 1
6-161139777-T-C c.1003T>C p.C335R Missense 9/19 - 3
6-161139784-C-G c.1010C>G p.T337R Missense 9/19 - 1
6-161139787-C-T c.1013C>T p.T338I Missense 9/19 - 2
6-161139789-A-G c.1015A>G p.N339D Missense 9/19 - 1
6-161139793-G-A c.1019G>A p.S340N Missense 9/19 - 1
6-161139798-G-A c.1024G>A p.V342M Missense 9/19 - 8
6-161139798-G-C c.1024G>C p.V342L Missense 9/19 - 1
6-161139800-G-A c.1026G>A p.V342= Synonymous 9/19 - 1
6-161139800-G-C c.1026G>C p.V342= Synonymous 9/19 - 1
6-161139800-G-T c.1026G>T p.V342= Synonymous 9/19 - 1
6-161139801-C-T c.1027C>T p.R343W Missense 9/19 - 3
6-161139802-G-A c.1028G>A p.R343Q Missense 9/19 - 1
6-161139802-G-T c.1028G>T p.R343L Missense 9/19 - 2
6-161139804-T-C c.1030T>C p.W344R Missense 9/19 - 1
6-161139805-G-A c.1031G>A p.W344* Nonsense 9/19 - 2
6-161139806-G-A c.1032G>A p.W344* Nonsense 9/19 - 5
6-161139807-G-C c.1033G>C p.E345Q Missense 9/19 - 1
6-161139807-G-T c.1033G>T p.E345* Nonsense 9/19 - 1
6-161139822-C-A c.1048C>A p.P350T Missense 9/19 - 1
6-161139823-C-G c.1049C>G p.P350R Missense 9/19 - 1
6-161139823-C-T c.1049C>T p.P350L Missense 9/19 - 3
6-161139824-G-A c.1050G>A p.P350= Synonymous 9/19 - 2
6-161139824-G-C c.1050G>C p.P350= Synonymous 9/19 - 2
6-161139824-G-T c.1050G>T p.P350= Synonymous 9/19 - 2
6-161139825-T-A c.1051T>A p.S351T Missense 9/19 - 2
6-161139825-T-C c.1051T>C p.S351P Missense 9/19 - 1
6-161139828-TG-AC c.1054_1055delinsAC p.C352T Missense 9/19 - 1
6-161139829-G-T c.1055G>T p.C352F Missense 9/19 - 3
6-161139832-A-G c.1058A>G p.D353G Missense 9/19 - 1
6-161139838-C-A c.1064C>A p.S355Y Missense 9/19 - 1
6-161139839-C-T c.1065C>T p.S355= Synonymous 9/19 - 2
6-161139840-C-T c.1066C>T p.P356S Missense 9/19 - 4
6-161139844-T-A c.1070T>A p.V357E Missense 9/19 - 4
6-161139846-T-A c.1072T>A p.S358T Missense 9/19 - 2
6-161139847-CC-TT c.1073_1074delinsTT p.S358F Missense 9/19 - 1
6-161139847-C-T c.1073C>T p.S358F Missense 9/19 - 5
6-161139850-C-G c.1076C>G p.T359R Missense 9/19 - 1
6-161139850-C-T c.1076C>T p.T359M Missense 9/19 - 4
6-161139851-G-A c.1077G>A p.T359= Synonymous 9/19 - 2
6-161139851-G-C c.1077G>C p.T359= Synonymous 9/19 - 1
6-161139851-G-T c.1077G>T p.T359= Synonymous 9/19 - 1
6-161139852-G-A c.1078G>A p.E360K Missense 9/19 - 7
6-161139855-C-T c.1081C>T p.Q361* Nonsense 9/19 - 1
6-161139857-A-G c.1083A>G p.Q361= Synonymous 9/19 - 13
6-161139861-G-A c.1087G>A p.A363T Missense 9/19 - 1
6-161139861-G-T c.1087G>T p.A363S Missense 9/19 - 1
6-161139862-C-T c.1088C>T p.A363V Missense 9/19 - 1
6-161139865-C-T c.1091C>T p.P364L Missense 9/19 - 1
6-161139866-C-T c.1092C>T p.P364= Synonymous 9/19 - 1
6-161139868-C-A c.1094C>A p.T365K Missense 9/19 - 1
6-161139868-C-T c.1094C>T p.T365I Missense 9/19 - 1
6-161139869-A-C c.1095A>C p.T365= Synonymous 9/19 - 1
6-161139869-A-G c.1095A>G p.T365= Synonymous 9/19 - 1
6-161139869-A-T c.1095A>T p.T365= Synonymous 9/19 - 1
6-161139870-G-A c.1096G>A p.A366T Missense 9/19 - 1
6-161143376-A-G c.1097-64A>G - IntronicSNV - 9/18 1
6-161143441-A-C c.1098A>C p.A366= Synonymous 10/19 - 1
6-161143441-A-G c.1098A>G p.A366= Synonymous 10/19 - 1
6-161143441-A-T c.1098A>T p.A366= Synonymous 10/19 - 1
6-161143448-G-T c.1105G>T p.E369* Nonsense 10/19 - 3
6-161143454-A-C c.1111A>C p.T371P Missense 10/19 - 1
6-161143454-A-T c.1111A>T p.T371S Missense 10/19 - 1
6-161143455-C-T c.1112C>T p.T371I Missense 10/19 - 1
6-161143461-T-A c.1118T>A p.V373E Missense 10/19 - 2
6-161143463-G-T c.1120G>T p.V374F Missense 10/19 - 4
6-161143469-G-C c.1126G>C p.D376H Missense 10/19 - 1
6-161143480-T-C c.1137T>C p.H379= Synonymous 10/19 - 1
6-161143482-G-A c.1139G>A p.G380D Missense 10/19 - 1
6-161143484-G-A c.1141G>A p.D381N Missense 10/19 - 3
6-161143493-A-G c.1150A>G p.S384G Missense 10/19 - 1
6-161143495-C-G c.1152C>G p.S384R Missense 10/19 - 1
6-161143497-A-G c.1154A>G p.Y385C Missense 10/19 - 1
6-161143499-C-T c.1156C>T p.R386* Nonsense 10/19 - 1
6-161143500-G-A c.1157G>A p.R386Q Missense 10/19 - 7
6-161143505-A-G c.1162A>G p.T388A Missense 10/19 - 1
6-161143506-C-A c.1163C>A p.T388K Missense 10/19 - 1
6-161143509-C-T c.1166C>T p.S389F Missense 10/19 - 2
6-161143514-A-G c.1171A>G p.T391A Missense 10/19 - 1
6-161143516-C-T c.1173C>T p.T391= Synonymous 10/19 - 2
6-161143518-C-T c.1175C>T p.T392I Missense 10/19 - 1
6-161143520-AC-TG c.1177_1178delinsTG p.T393C Missense 10/19 - 1
6-161143522-C-A c.1179C>A p.T393= Synonymous 10/19 - 1
6-161143522-C-G c.1179C>G p.T393= Synonymous 10/19 - 1
6-161143522-C-T c.1179C>T p.T393= Synonymous 10/19 - 2
6-161143524-C-G c.1181C>G p.T394R Missense 10/19 - 2
6-161143526-G-A c.1183G>A p.G395R Missense 10/19 - 3
6-161143526-G-C c.1183G>C p.G395R Missense 10/19 - 2
6-161143526-GGA-TGT c.1183_1185delinsTGT p.G395C Missense 10/19 - 1
6-161143527-G-A c.1184G>A p.G395E Missense 10/19 - 8
6-161143527-G-C c.1184G>C p.G395A Missense 10/19 - 1
6-161143527-G-T c.1184G>T p.G395V Missense 10/19 - 3
6-161143530-A-C c.1187A>C p.K396T Missense 10/19 - 1
6-161143530-A-G c.1187A>G p.K396R Missense 10/19 - 1
6-161143531-G-A c.1188G>A p.K396= Synonymous 10/19 - 2
6-161143531-G-C c.1188G>C p.K396N Missense 10/19 - 1
6-161143531-G-T c.1188G>T p.K396N Missense 10/19 - 1
6-161143535-T-C c.1192T>C p.C398R Missense 10/19 - 1
6-161143536-G-A c.1193G>A p.C398Y Missense 10/19 - 1
6-161143540-G-A c.1197G>A p.Q399= Synonymous 10/19 - 2
6-161143543-T-A c.1200T>A p.S400= Synonymous 10/19 - 1
6-161143543-T-C c.1200T>C p.S400= Synonymous 10/19 - 2
6-161143543-T-G c.1200T>G p.S400= Synonymous 10/19 - 1
6-161143542-CT-C c.1201del p.W401Gfs*4 Frameshift 10/19 - 1
6-161143545-G-T c.1202G>T p.W401L Missense 10/19 - 1
6-161143555-G-C c.1212G>C p.M404I Missense 10/19 - 2
6-161143556-AC-GG c.1213_1214delinsGG p.T405G Missense 10/19 - 1
6-161143556-A-G c.1213A>G p.T405A Missense 10/19 - 1
6-161143560-C-T c.1217C>T p.P406L Missense 10/19 - 1
6-161143562-C-A c.1219C>A p.H407N Missense 10/19 - 1
6-161143562-C-G c.1219C>G p.H407D Missense 10/19 - 1
6-161143563-A-T c.1220A>T p.H407L Missense 10/19 - 1
6-161143565-C-A c.1222C>A p.R408= Synonymous 10/19 - 1
6-161143565-C-T c.1222C>T p.R408W Missense 10/19 - 5
6-161143567-G-A c.1224G>A p.R408= Synonymous 10/19 - 1
6-161143567-G-C c.1224G>C p.R408= Synonymous 10/19 - 1
6-161143567-G-T c.1224G>T p.R408= Synonymous 10/19 - 1
6-161143566-G-C c.1223G>C p.R408P Missense 10/19 - 1
6-161143570-C-A c.1227C>A p.H409Q Missense 10/19 - 1
6-161143570-C-G c.1227C>G p.H409Q Missense 10/19 - 1
6-161143571-C-T c.1228C>T p.Q410* Nonsense 10/19 - 1
6-161143573-G-A c.1230G>A p.Q410= Synonymous 10/19 - 2
6-161143574-A-C c.1231A>C p.K411Q Missense 10/19 - 2
6-161143575-A-G c.1232A>G p.K411R Missense 10/19 - 1
6-161143576-G-A c.1233G>A p.K411= Synonymous 10/19 - 3
6-161143577-GA-G c.1234del p.T412Pfs*10 Frameshift 10/19 - 1
6-161143580-C-G c.1237C>G p.P413A Missense 10/19 - 1
6-161143577-A-AC c.1238dup p.E414Rfs*20 Frameshift 10/19 - 1
6-161143582-A-AT c.1239_1240insT p.E414* Nonsense 10/19 - 1
6-161143583-G-A c.1240G>A p.E414K Missense 10/19 - 1
6-161143583-G-T c.1240G>T p.E414* Nonsense 10/19 - 1
6-161143585-A-C c.1242A>C p.E414D Missense 10/19 - 2
6-161143585-A-G c.1242A>G p.E414= Synonymous 10/19 - 1
6-161143585-A-T c.1242A>T p.E414D Missense 10/19 - 3
6-161143586-A-T c.1243A>T p.N415Y Missense 10/19 - 1
6-161143590-A-G c.1247A>G p.Y416C Missense 10/19 - 1
6-161143594-A-C c.1251A>C p.P417= Synonymous 10/19 - 1
6-161143594-A-G c.1251A>G p.P417= Synonymous 10/19 - 1
6-161143594-A-T c.1251A>T p.P417= Synonymous 10/19 - 1
6-161143598-G-A c.1255G>A p.A419T Missense 10/19 - 1
6-161143599-C-T c.1256C>T p.A419V Missense 10/19 - 1
6-161143600-G-A c.1256+1G>A - IntronicSNV - 10/18 4
6-161143601-T-A c.1256+2T>A - IntronicSNV - 10/18 2
6-161143608-T-C c.1256+9T>C - IntronicSNV - 10/18 38
6-161143608-T-G c.1256+9T>G - IntronicSNV - 10/18 38
6-161143786-G-A c.1256+187G>A - IntronicSNV - 10/18 1
6-161145246-A-C c.1256+1647A>C - IntronicSNV - 10/18 2
6-161146903-TA-T c.1256+3311del - IntronicDeletion - 10/18 1
6-161150070-G-A c.1257-2013G>A - IntronicSNV - 10/18 1
6-161150070-G-C c.1257-2013G>C - IntronicSNV - 10/18 1
6-161150070-G-T c.1257-2013G>T - IntronicSNV - 10/18 1
6-161152084-G-A c.1258G>A p.G420S Missense 11/19 - 2
6-161152085-G-A c.1259G>A p.G420D Missense 11/19 - 11
6-161152090-A-T c.1264A>T p.T422S Missense 11/19 - 5
6-161152095-G-A c.1269G>A p.M423I Missense 11/19 - 6
6-161152095-G-C c.1269G>C p.M423I Missense 11/19 - 1
6-161152095-G-GT c.1269_1270insT p.N424* Nonsense 11/19 - 1
6-161152095-G-T c.1269G>T p.M423I Missense 11/19 - 1
6-161152096-A-C c.1270A>C p.N424H Missense 11/19 - 1
6-161152095-G-GA c.1271dup p.N424Kfs*10 Frameshift 11/19 - 1
6-161152104-C-T c.1278C>T p.C426= Synonymous 11/19 - 3
6-161152105-A-G c.1279A>G p.R427G Missense 11/19 - 2
6-161152105-A-C c.1279A>C p.R427= Synonymous 11/19 - 1
6-161152107-G-A c.1281G>A p.R427= Synonymous 11/19 - 2
6-161152110-T-A c.1284T>A p.N428K Missense 11/19 - 1
6-161152110-T-G c.1284T>G p.N428K Missense 11/19 - 1
6-161152114-G-C c.1288G>C p.D430H Missense 11/19 - 1
6-161152116-T-A c.1290T>A p.D430E Missense 11/19 - 1
6-161152116-T-G c.1290T>G p.D430E Missense 11/19 - 1
6-161152117-G-A c.1291G>A p.A431T Missense 11/19 - 1
6-161152117-G-C c.1291G>C p.A431P Missense 11/19 - 1
6-161152118-C-T c.1292C>T p.A431V Missense 11/19 - 1
6-161152120-G-A c.1294G>A p.D432N Missense 11/19 - 7
6-161152120-G-C c.1294G>C p.D432H Missense 11/19 - 4
6-161152126-G-A c.1300G>A p.G434S Missense 11/19 - 1
6-161152134-G-C c.1308G>C p.W436C Missense 11/19 - 1
6-161152135-T-G c.1309T>G p.C437G Missense 11/19 - 1
6-161152137-T-C c.1311T>C p.C437= Synonymous 11/19 - 1
6-161152147-G-A c.1321G>A p.D441N Missense 11/19 - 5
6-161152149-C-T c.1323C>T p.D441= Synonymous 11/19 - 1
6-161152150-C-A c.1324C>A p.P442T Missense 11/19 - 1
6-161152151-C-A c.1325C>A p.P442H Missense 11/19 - 2
6-161152151-C-G c.1325C>G p.P442R Missense 11/19 - 1
6-161152153-A-C c.1327A>C p.S443R Missense 11/19 - 1
6-161152155-C-A c.1329C>A p.S443R Missense 11/19 - 1
6-161152155-C-G c.1329C>G p.S443R Missense 11/19 - 1
6-161152156-G-A c.1330G>A p.V444I Missense 11/19 - 5
6-161152157-T-G c.1331T>G p.V444G Missense 11/19 - 1
6-161152159-A-C c.1333A>C p.R445= Synonymous 11/19 - 1
6-161152160-G-C c.1334G>C p.R445T Missense 11/19 - 1
6-161152161-G-C c.1335G>C p.R445S Missense 11/19 - 2
6-161152161-G-T c.1335G>T p.R445S Missense 11/19 - 1
6-161152162-T-TG c.1339dup p.E447Gfs*66 Frameshift 11/19 - 1
6-161152165-G-A c.1339G>A p.E447K Missense 11/19 - 4
6-161152169-A-G c.1343A>G p.Y448C Missense 11/19 - 1
6-161152171-TG-AC c.1345_1346delinsAC p.C449T Missense 11/19 - 2
6-161152172-G-A c.1346G>A p.C449Y Missense 11/19 - 1
6-161152172-GCAA-G c.1348_1350del p.N450del InFrameDeletion 11/19 - 1
6-161152174-A-G c.1348A>G p.N450D Missense 11/19 - 2
6-161152175-A-AACT c.1349_1350insACT p.N450delinsKL MultiAAMissense 11/19 - 1
6-161152175-A-G c.1349A>G p.N450S Missense 11/19 - 2
6-161152177-C-CAGTATCCCAGAGTGCTA c.1351_1352insAGTATCCCAGAGTGCTA p.L451Qfs*7 Frameshift 11/19 - 1
6-161152179-G-A c.1353G>A p.L451= Synonymous 11/19 - 2
6-161152179-G-GT c.1353_1354insT p.K452* Nonsense 11/19 - 1
6-161152184-A-C c.1358A>C p.K453T Missense 11/19 - 1
6-161152184-A-T c.1358A>T p.K453I Missense 11/19 - 2
6-161152179-G-GA c.1359dup p.C454Mfs*59 Frameshift 11/19 - 5
6-161152186-T-TA c.1360_1361insA p.C454* Nonsense 11/19 - 1
6-161152190-C-T c.1364C>T p.S455L Missense 11/19 - 1
6-161152195-A-C c.1369A>C p.T457P Missense 11/19 - 1
6-161152203-G-C c.1377G>C p.A459= Synonymous 11/19 - 1
6-161152203-G-T c.1377G>T p.A459= Synonymous 11/19 - 1
6-161152204-A-C c.1378A>C p.S460R Missense 11/19 - 2
6-161152206-T-A c.1380T>A p.S460R Missense 11/19 - 5
6-161152206-T-G c.1380T>G p.S460R Missense 11/19 - 2
6-161152209-T-A c.1383T>A p.V461= Synonymous 11/19 - 1
6-161152209-T-C c.1383T>C p.V461= Synonymous 11/19 - 1
6-161152209-T-G c.1383T>G p.V461= Synonymous 11/19 - 2
6-161152214-C-A c.1388C>A p.A463E Missense 11/19 - 1
6-161152214-C-T c.1388C>T p.A463V Missense 11/19 - 1
6-161152217-C-G c.1391C>G p.P464R Missense 11/19 - 1
6-161152219-C-A c.1393C>A p.P465T Missense 11/19 - 2
6-161152219-C-G c.1393C>G p.P465A Missense 11/19 - 1
6-161152219-C-T c.1393C>T p.P465S Missense 11/19 - 4
6-161152220-C-G c.1394C>G p.P465R Missense 11/19 - 1
6-161152220-C-T c.1394C>T p.P465L Missense 11/19 - 1
6-161152221-G-A c.1395G>A p.P465= Synonymous 11/19 - 2
6-161152221-G-C c.1395G>C p.P465= Synonymous 11/19 - 1
6-161152221-G-T c.1395G>T p.P465= Synonymous 11/19 - 1
6-161152222-C-A c.1396C>A p.P466T Missense 11/19 - 1
6-161152223-C-T c.1397C>T p.P466L Missense 11/19 - 4
6-161152225-G-A c.1399G>A p.V467I Missense 11/19 - 1
6-161152228-G-A c.1402G>A p.V468I Missense 11/19 - 1
6-161152232-T-C c.1406T>C p.L469P Missense 11/19 - 3
6-161152234-C-T c.1408C>T p.L470F Missense 11/19 - 1
6-161152238-C-T c.1412C>T p.P471L Missense 11/19 - 3
6-161152240-G-A c.1414G>A p.D472N Missense 11/19 - 37
6-161152242-T-C c.1416T>C p.D472= Synonymous 11/19 - 1
6-161152246-G-A c.1420G>A p.E474K Missense 11/19 - 2
6-161152246-G-C c.1420G>C p.E474Q Missense 11/19 - 1
6-161152248-G-A c.1422G>A p.E474= Synonymous 11/19 - 1
6-161152249-A-G c.1423A>G p.T475A Missense 11/19 - 1
6-161152250-C-T c.1424C>T p.T475I Missense 11/19 - 1
6-161152252-C-T c.1426C>T p.P476S Missense 11/19 - 1
6-161152256-C-T c.1430C>T p.S477F Missense 11/19 - 1
6-161152257-C-A c.1431C>A p.S477= Synonymous 11/19 - 1
6-161152257-C-G c.1431C>G p.S477= Synonymous 11/19 - 1
6-161152257-C-T c.1431C>T p.S477= Synonymous 11/19 - 8
6-161152258-G-A c.1432G>A p.E478K Missense 11/19 - 1
6-161152261-G-T c.1435G>T p.E479* Nonsense 11/19 - 1
6-161152294-A-C c.1438+30A>C - IntronicSNV - 11/18 5
6-161152294-A-G c.1438+30A>G - IntronicSNV - 11/18 6
6-161152449-G-A c.1438+185G>A - IntronicSNV - 11/18 3
6-161152783-T-C c.1445T>C p.M482T Missense 12/19 - 1
6-161152784-GTT-G c.1448_1449del p.F483Wfs*29 Frameshift 12/19 - 1
6-161152788-G-A c.1450G>A p.G484R Missense 12/19 - 1
6-161152789-G-A c.1451G>A p.G484E Missense 12/19 - 1
6-161152789-G-T c.1451G>T p.G484V Missense 12/19 - 1
6-161152790-G-GT c.1452_1453insT p.N485* Nonsense 12/19 - 1
6-161152794-GGG-TGT c.1456_1458delinsTGT p.G486C Missense 12/19 - 1
6-161152795-G-A c.1457G>A p.G486E Missense 12/19 - 1
6-161152796-G-A c.1458G>A p.G486= Synonymous 12/19 - 4
6-161152796-G-T c.1458G>T p.G486= Synonymous 12/19 - 2
6-161152798-A-C c.1460A>C p.K487T Missense 12/19 - 1
6-161152801-G-A c.1463G>A p.G488E Missense 12/19 - 1
6-161152803-T-A c.1465T>A p.Y489N Missense 12/19 - 1
6-161152806-C-A c.1468C>A p.R490= Synonymous 12/19 - 1
6-161152806-C-T c.1468C>T p.R490* Nonsense 12/19 - 1
6-161152807-G-A c.1469G>A p.R490Q Missense 12/19 - 10
6-161152809-G-A c.1471G>A p.G491S Missense 12/19 - 2
6-161152814-G-A c.1476G>A p.K492= Synonymous 12/19 - 1
6-161152818-G-A c.1480G>A p.A494T Missense 12/19 - 2
6-161152819-C-A c.1481C>A p.A494E Missense 12/19 - 11
6-161152819-C-T c.1481C>T p.A494V Missense 12/19 - 27
6-161152820-G-A c.1482G>A p.A494= Synonymous 12/19 - 1
6-161152822-C-T c.1484C>T p.T495I Missense 12/19 - 1
6-161152823-C-A c.1485C>A p.T495= Synonymous 12/19 - 2
6-161152825-C-G c.1487C>G p.T496S Missense 12/19 - 1
6-161152825-C-T c.1487C>T p.T496I Missense 12/19 - 1
6-161152831-C-T c.1493C>T p.T498I Missense 12/19 - 1
6-161152834-G-A c.1496G>A p.G499E Missense 12/19 - 1
6-161152837-C-T c.1499C>T p.T500M Missense 12/19 - 12
6-161152838-G-A c.1500G>A p.T500= Synonymous 12/19 - 5
6-161152838-G-C c.1500G>C p.T500= Synonymous 12/19 - 1
6-161152838-G-T c.1500G>T p.T500= Synonymous 12/19 - 1
6-161152839-C-T c.1501C>T p.P501S Missense 12/19 - 1
6-161152840-C-T c.1502C>T p.P501L Missense 12/19 - 1
6-161152841-A-C c.1503A>C p.P501= Synonymous 12/19 - 1
6-161152841-A-G c.1503A>G p.P501= Synonymous 12/19 - 2
6-161152841-A-T c.1503A>T p.P501= Synonymous 12/19 - 1
6-161152843-G-A c.1505G>A p.C502Y Missense 12/19 - 4
6-161152847-G-A c.1509G>A p.Q503= Synonymous 12/19 - 1
6-161152848-G-T c.1510G>T p.D504Y Missense 12/19 - 2
6-161152850-C-T c.1512C>T p.D504= Synonymous 12/19 - 1
6-161152851-T-C c.1513T>C p.W505R Missense 12/19 - 1
6-161152855-C-G c.1517C>G p.A506G Missense 12/19 - 1
6-161152858-C-G c.1520C>G p.A507G Missense 12/19 - 1
6-161152858-C-T c.1520C>T p.A507V Missense 12/19 - 1
6-161152860-C-T c.1522C>T p.Q508* Nonsense 12/19 - 2
6-161152867-C-G c.1529C>G p.P510R Missense 12/19 - 1
6-161152867-C-T c.1529C>T p.P510L Missense 12/19 - 1
6-161152868-C-T c.1530C>T p.P510= Synonymous 12/19 - 3
6-161152869-C-T c.1531C>T p.H511Y Missense 12/19 - 1
6-161152872-AGA-CAT c.1534_1536delinsCAT p.R512H Missense 12/19 - 1
6-161152874-A-C c.1536A>C p.R512S Missense 12/19 - 1
6-161152874-A-T c.1536A>T p.R512S Missense 12/19 - 1
6-161152878-AG-TT c.1540_1541delinsTT p.S514F Missense 12/19 - 1
6-161152880-C-G c.1542C>G p.S514R Missense 12/19 - 1
6-161152886-C-T c.1548C>T p.F516= Synonymous 12/19 - 3
6-161152890-C-A c.1552C>A p.P518T Missense 12/19 - 1
6-161152895-G-C c.1557G>C p.E519D Missense 12/19 - 2
6-161152896-A-G c.1558A>G p.T520A Missense 12/19 - 1
6-161152899-A-G c.1561A>G p.N521D Missense 12/19 - 1
6-161152900-A-C c.1562A>C p.N521T Missense 12/19 - 1
6-161152903-C-A c.1565C>A p.P522Q Missense 12/19 - 2
6-161152903-C-T c.1565C>T p.P522L Missense 12/19 - 1
6-161152905-C-T c.1567C>T p.R523W Missense 12/19 - 27
6-161152907-G-A c.1569G>A p.R523= Synonymous 12/19 - 1
6-161152909-C-A c.1571C>A p.A524E Missense 12/19 - 1
6-161152909-C-T c.1571C>T p.A524V Missense 12/19 - 3
6-161152910-G-A c.1572G>A p.A524= Synonymous 12/19 - 1
6-161152910-G-C c.1572G>C p.A524= Synonymous 12/19 - 1
6-161152910-G-T c.1572G>T p.A524= Synonymous 12/19 - 1
6-161152911-G-A c.1573G>A p.G525S Missense 12/19 - 2
6-161152911-G-T c.1573G>T p.G525C Missense 12/19 - 1
6-161152912-G-C c.1574G>C p.G525A Missense 12/19 - 1
6-161152914-C-T c.1576C>T p.L526= Synonymous 12/19 - 1
6-161152917-G-A c.1579G>A p.E527K Missense 12/19 - 2
6-161152920-A-T c.1582A>T p.K528* Nonsense 12/19 - 2
6-161152917-GA-G c.1586del p.N529Ifs*10 Frameshift 12/19 - 4
6-161152917-G-GA c.1586dup p.N529Kfs*5 SpliceDonorInsertion 12/19 - 3
6-161152951-T-G c.1587+26T>G - IntronicSNV - 12/18 1
6-161153080-A-C c.1587+155A>C - IntronicSNV - 12/18 2
6-161153080-A-T c.1587+155A>T - IntronicSNV - 12/18 1
6-161153081-G-T c.1587+156G>T - IntronicSNV - 12/18 1
6-161153357-T-G c.1587+432T>G - IntronicSNV - 12/18 1
6-161153527-T-C c.1587+602T>C - IntronicSNV - 12/18 3
6-161153990-G-A c.1588-1037G>A - IntronicSNV - 12/18 1
6-161154232-G-T c.1588-795G>T - IntronicSNV - 12/18 5
6-161154237-G-A c.1588-790G>A - IntronicSNV - 12/18 1
6-161154450-G-A c.1588-577G>A - IntronicSNV - 12/18 2
6-161154955-C-A c.1588-72C>A - IntronicSNV - 12/18 1
6-161154955-C-T c.1588-72C>T - IntronicSNV - 12/18 1
6-161155024-C-T c.1588-3C>T - IntronicSNV - 12/18 1
6-161155027-T-C c.1588T>C p.Y530H Missense 13/19 - 2
6-161155034-G-A c.1595G>A p.R532H Missense 13/19 - 4
6-161155038-C-T c.1599C>T p.N533= Synonymous 13/19 - 1
6-161155039-C-A c.1600C>A p.P534T Missense 13/19 - 2
6-161155040-C-A c.1601C>A p.P534H Missense 13/19 - 1
6-161155042-G-A c.1603G>A p.D535N Missense 13/19 - 3
6-161155045-GGT-TGG c.1606_1608delinsTGG p.G536W Missense 13/19 - 1
6-161155045-G-T c.1606G>T p.G536C Missense 13/19 - 1
6-161155046-G-T c.1607G>T p.G536V Missense 13/19 - 1
6-161155048-G-C c.1609G>C p.D537H Missense 13/19 - 1
6-161155051-G-T c.1612G>T p.V538L Missense 13/19 - 1
6-161155053-A-C c.1614A>C p.V538= Synonymous 13/19 - 1
6-161155053-A-G c.1614A>G p.V538= Synonymous 13/19 - 1
6-161155053-A-T c.1614A>T p.V538= Synonymous 13/19 - 1
6-161155054-G-A c.1615G>A p.G539S Missense 13/19 - 1
6-161155054-G-C c.1615G>C p.G539R Missense 13/19 - 1
6-161155057-G-A c.1618G>A p.G540S Missense 13/19 - 1
6-161155058-G-T c.1619G>T p.G540V Missense 13/19 - 2
6-161155060-C-T c.1621C>T p.P541S Missense 13/19 - 1
6-161155061-C-T c.1622C>T p.P541L Missense 13/19 - 3
6-161155062-C-T c.1623C>T p.P541= Synonymous 13/19 - 1
6-161155066-TG-AC c.1627_1628delinsAC p.C543T Missense 13/19 - 1
6-161155067-G-A c.1628G>A p.C543Y Missense 13/19 - 3
6-161155072-A-G c.1633A>G p.T545A Missense 13/19 - 1
6-161155073-C-T c.1634C>T p.T545M Missense 13/19 - 1
6-161155075-A-G c.1636A>G p.T546A Missense 13/19 - 1
6-161155080-T-C c.1641T>C p.N547= Synonymous 13/19 - 1
6-161155081-C-T c.1642C>T p.P548S Missense 13/19 - 2
6-161155082-C-T c.1643C>T p.P548L Missense 13/19 - 3
6-161155085-G-A c.1646G>A p.R549K Missense 13/19 - 1
6-161155085-G-C c.1646G>C p.R549T Missense 13/19 - 3
6-161155085-G-T c.1646G>T p.R549I Missense 13/19 - 1
6-161155085-G-GA c.1650dup p.L551Tfs*6 Frameshift 13/19 - 1
6-161155089-A-T c.1650A>T p.K550N Missense 13/19 - 1
6-161155090-CTT-ATG c.1651_1653delinsATG p.L551M Missense 13/19 - 2
6-161155091-T-C c.1652T>C p.L551P Missense 13/19 - 1
6-161155093-T-C c.1654T>C p.Y552H Missense 13/19 - 1
6-161155093-T-G c.1654T>G p.Y552D Missense 13/19 - 1
6-161155095-C-T c.1656C>T p.Y552= Synonymous 13/19 - 4
6-161155096-G-A c.1657G>A p.D553N Missense 13/19 - 8
6-161155096-G-C c.1657G>C p.D553H Missense 13/19 - 1
6-161155104-T-C c.1665T>C p.C555= Synonymous 13/19 - 1
6-161155108-G-A c.1669G>A p.V557I Missense 13/19 - 1
6-161155108-GTC-ATG c.1669_1671delinsATG p.V557M Missense 13/19 - 1
6-161155111-C-T c.1672C>T p.P558S Missense 13/19 - 1
6-161155112-C-A c.1673C>A p.P558H Missense 13/19 - 1
6-161155113-T-A c.1674T>A p.P558= Synonymous 13/19 - 1
6-161155113-T-C c.1674T>C p.P558= Synonymous 13/19 - 2
6-161155113-T-G c.1674T>G p.P558= Synonymous 13/19 - 1
6-161155117-T-G c.1678T>G p.C560G Missense 13/19 - 1
6-161155117-TG-AC c.1678_1679delinsAC p.C560T Missense 13/19 - 1
6-161155117-TG-GC c.1678_1679delinsGC p.C560A Missense 13/19 - 1
6-161155118-G-C c.1679G>C p.C560S Missense 13/19 - 1
6-161155198-C-A c.1681+78C>A - IntronicSNV - 13/18 1
6-161155222-G-C c.1681+102G>C - IntronicSNV - 13/18 1
6-161156667-G-A c.1682-1252G>A - IntronicSNV - 13/18 1
6-161157919-C-T c.1682C>T p.A561V Missense 14/19 - 3
6-161157920-G-A c.1683G>A p.A561= Synonymous 14/19 - 3
6-161157920-G-C c.1683G>C p.A561= Synonymous 14/19 - 1
6-161157920-G-T c.1683G>T p.A561= Synonymous 14/19 - 1
6-161157922-C-T c.1685C>T p.A562V Missense 14/19 - 1
6-161157924-C-A c.1687C>A p.P563T Missense 14/19 - 1
6-161157924-C-T c.1687C>T p.P563S Missense 14/19 - 2
6-161157928-C-T c.1691C>T p.S564L Missense 14/19 - 2
6-161157929-A-C c.1692A>C p.S564= Synonymous 14/19 - 1
6-161157929-A-G c.1692A>G p.S564= Synonymous 14/19 - 1
6-161157929-A-T c.1692A>T p.S564= Synonymous 14/19 - 1
6-161157933-G-A c.1696G>A p.D566N Missense 14/19 - 2
6-161157936-T-G c.1699T>G p.C567G Missense 14/19 - 1
6-161157939-G-A c.1702G>A p.G568R Missense 14/19 - 1
6-161157940-G-C c.1703G>C p.G568A Missense 14/19 - 1
6-161157941-G-A c.1704G>A p.G568= Synonymous 14/19 - 3
6-161157944-G-A c.1707G>A p.K569= Synonymous 14/19 - 1
6-161157945-C-A c.1708C>A p.P570T Missense 14/19 - 1
6-161157945-C-T c.1708C>T p.P570S Missense 14/19 - 1
6-161157950-A-C c.1713A>C p.Q571H Missense 14/19 - 2
6-161157957-C-A c.1720C>A p.P574T Missense 14/19 - 3
6-161157958-C-T c.1721C>T p.P574L Missense 14/19 - 1
6-161157959-G-A c.1722G>A p.P574= Synonymous 14/19 - 4
6-161157959-G-C c.1722G>C p.P574= Synonymous 14/19 - 2
6-161157959-G-T c.1722G>T p.P574= Synonymous 14/19 - 2
6-161157960-A-C c.1723A>C p.K575Q Missense 14/19 - 1
6-161157962-G-A c.1725G>A p.K575= Synonymous 14/19 - 2
6-161157962-G-C c.1725G>C p.K575N Missense 14/19 - 2
6-161157962-G-T c.1725G>T p.K575N Missense 14/19 - 3
6-161157966-T-G c.1729T>G p.C577G Missense 14/19 - 1
6-161157966-TG-AC c.1729_1730delinsAC p.C577T Missense 14/19 - 1
6-161157969-C-A c.1732C>A p.P578T Missense 14/19 - 1
6-161157972-G-A c.1735G>A p.G579R Missense 14/19 - 1
6-161157972-G-C c.1735G>C p.G579R Missense 14/19 - 1
6-161157975-AG-CA c.1738_1739delinsCA p.R580Q Missense 14/19 - 1
6-161157977-G-A c.1740G>A p.R580= Synonymous 14/19 - 1
6-161157979-T-C c.1742T>C p.V581A Missense 14/19 - 1
6-161157986-G-T c.1749G>T p.G583= Synonymous 14/19 - 1
6-161157987-G-C c.1750G>C p.G584R Missense 14/19 - 1
6-161157988-G-T c.1751G>T p.G584V Missense 14/19 - 1
6-161157983-A-AG c.1752dup p.C585Vfs*15 Frameshift 14/19 - 1
6-161157990-T-G c.1753T>G p.C585G Missense 14/19 - 1
6-161157993-G-A c.1756G>A p.V586M Missense 14/19 - 1
6-161157996-G-A c.1759G>A p.A587T Missense 14/19 - 1
6-161157996-G-T c.1759G>T p.A587S Missense 14/19 - 1
6-161157998-C-T c.1761C>T p.A587= Synonymous 14/19 - 1
6-161158002-C-A c.1765C>A p.P589T Missense 14/19 - 3
6-161158008-T-C c.1771T>C p.S591P Missense 14/19 - 4
6-161158008-T-G c.1771T>G p.S591A Missense 14/19 - 2
6-161158009-C-G c.1772C>G p.S591C Missense 14/19 - 1
6-161158010-C-T c.1773C>T p.S591= Synonymous 14/19 - 1
6-161158015-C-T c.1778C>T p.P593L Missense 14/19 - 2
6-161158016-C-T c.1779C>T p.P593= Synonymous 14/19 - 2
6-161158018-G-A c.1781G>A p.W594* Nonsense 14/19 - 4
6-161158019-G-A c.1782G>A p.W594* Nonsense 14/19 - 3
6-161158022-A-C c.1785A>C p.Q595H Missense 14/19 - 1
6-161158022-A-G c.1785A>G p.Q595= Synonymous 14/19 - 2
6-161158024-T-G c.1787T>G p.V596G Missense 14/19 - 1
6-161158026-AG-GC c.1789_1790delinsGC p.S597A Missense 14/19 - 1
6-161158026-AG-TT c.1789_1790delinsTT p.S597F Missense 14/19 - 1
6-161158029-C-A c.1792C>A p.L598I Missense 14/19 - 1
6-161158029-C-T c.1792C>T p.L598F Missense 14/19 - 1
6-161158032-AGA-TGT c.1795_1797delinsTGT p.R599C Missense 14/19 - 1
6-161158038-A-C c.1801A>C p.R601= Synonymous 14/19 - 2
6-161158039-G-T c.1802G>T p.R601M Missense 14/19 - 1
6-161158079-C-T c.1802+40C>T - IntronicSNV - 14/18 1
6-161158429-C-T c.1802+390C>T - IntronicSNV - 14/18 1
6-161159006-T-C c.1803-564T>C - IntronicSNV - 14/18 1
6-161159016-A-G c.1803-554A>G - IntronicSNV - 14/18 1
6-161159366-T-G c.1803-204T>G - IntronicSNV - 14/18 2
6-161159570-G-A c.1803G>A p.R601= Synonymous 15/19 - 1
6-161159574-G-A c.1807G>A p.G603R Missense 15/19 - 2
6-161159574-G-C c.1807G>C p.G603R Missense 15/19 - 2
6-161159574-GGA-TGT c.1807_1809delinsTGT p.G603C Missense 15/19 - 1
6-161159575-G-A c.1808G>A p.G603E Missense 15/19 - 5
6-161159575-G-T c.1808G>T p.G603V Missense 15/19 - 1
6-161159579-G-A c.1812G>A p.M604I Missense 15/19 - 1
6-161159580-C-A c.1813C>A p.H605N Missense 15/19 - 1
6-161159586-T-A c.1819T>A p.C607S Missense 15/19 - 1
6-161159586-T-C c.1819T>C p.C607R Missense 15/19 - 1
6-161159587-G-C c.1820G>C p.C607S Missense 15/19 - 1
6-161159590-G-A c.1823G>A p.G608E Missense 15/19 - 3
6-161159592-G-C c.1825G>C p.G609R Missense 15/19 - 1
6-161159596-C-G c.1829C>G p.T610S Missense 15/19 - 1
6-161159600-G-C c.1833G>C p.L611F Missense 15/19 - 2
6-161159600-G-T c.1833G>T p.L611F Missense 15/19 - 1
6-161159605-C-T c.1838C>T p.S613F Missense 15/19 - 3
6-161159606-C-A c.1839C>A p.S613= Synonymous 15/19 - 1
6-161159606-C-G c.1839C>G p.S613= Synonymous 15/19 - 1
6-161159606-C-T c.1839C>T p.S613= Synonymous 15/19 - 1
6-161159607-C-G c.1840C>G p.P614A Missense 15/19 - 1
6-161159608-C-T c.1841C>T p.P614L Missense 15/19 - 1
6-161159610-G-A c.1843G>A p.E615K Missense 15/19 - 3
6-161159610-G-C c.1843G>C p.E615Q Missense 15/19 - 1
6-161159611-A-G c.1844A>G p.E615G Missense 15/19 - 1
6-161159612-G-C c.1845G>C p.E615D Missense 15/19 - 1
6-161159612-G-T c.1845G>T p.E615D Missense 15/19 - 1
6-161159615-G-A c.1848G>A p.W616* Nonsense 15/19 - 2
6-161159615-G-C c.1848G>C p.W616C Missense 15/19 - 1
6-161159616-G-A c.1849G>A p.V617M Missense 15/19 - 5
6-161159616-GTG-ATC c.1849_1851delinsATC p.V617I Missense 15/19 - 1
6-161159618-G-T c.1851G>T p.V617= Synonymous 15/19 - 1
6-161159616-GTGT-G c.1852_1854del p.L618del InFrameDeletion 15/19 - 1
6-161159619-T-C c.1852T>C p.L618= Synonymous 15/19 - 5
6-161159619-TT-GC c.1852_1853delinsGC p.L618A Missense 15/19 - 1
6-161159621-G-A c.1854G>A p.L618= Synonymous 15/19 - 1
6-161159620-T-A c.1853T>A p.L618* Nonsense 15/19 - 1
6-161159625-G-A c.1858G>A p.A620T Missense 15/19 - 14
6-161159625-G-T c.1858G>T p.A620S Missense 15/19 - 1
6-161159631-C-T c.1864C>T p.H622Y Missense 15/19 - 3
6-161159733-C-G c.1877+89C>G - IntronicSNV - 15/18 1
6-161160083-G-A c.1878-17G>A - IntronicSNV - 15/18 7
6-161160094-T-C c.1878-6T>C - IntronicSNV - 15/18 1
6-161160100-G-A c.1878G>A p.K626= Synonymous 16/19 - 1
6-161160101-TC-GG c.1879_1880delinsGG p.S627G Missense 16/19 - 1
6-161160102-C-T c.1880C>T p.S627F Missense 16/19 - 2
6-161160103-C-A c.1881C>A p.S627= Synonymous 16/19 - 2
6-161160103-C-G c.1881C>G p.S627= Synonymous 16/19 - 2
6-161160103-C-T c.1881C>T p.S627= Synonymous 16/19 - 5
6-161160105-C-T c.1883C>T p.P628L Missense 16/19 - 1
6-161160109-G-A c.1887G>A p.R629= Synonymous 16/19 - 1
6-161160109-G-C c.1887G>C p.R629S Missense 16/19 - 3
6-161160109-G-T c.1887G>T p.R629S Missense 16/19 - 2
6-161160110-C-T c.1888C>T p.P630S Missense 16/19 - 1
6-161160111-C-A c.1889C>A p.P630H Missense 16/19 - 2
6-161160114-C-A c.1892C>A p.S631* Nonsense 16/19 - 1
6-161160114-C-G c.1892C>G p.S631* Nonsense 16/19 - 2
6-161160115-A-C c.1893A>C p.S631= Synonymous 16/19 - 1
6-161160115-A-G c.1893A>G p.S631= Synonymous 16/19 - 3
6-161160115-A-T c.1893A>T p.S631= Synonymous 16/19 - 1
6-161160118-C-A c.1896C>A p.S632= Synonymous 16/19 - 2
6-161160118-C-G c.1896C>G p.S632= Synonymous 16/19 - 1
6-161160118-C-T c.1896C>T p.S632= Synonymous 16/19 - 1
6-161160120-A-G c.1898A>G p.Y633C Missense 16/19 - 1
6-161160129-T-C c.1907T>C p.I636T Missense 16/19 - 1
6-161160130-C-T c.1908C>T p.I636= Synonymous 16/19 - 1
6-161160131-C-A c.1909C>A p.L637M Missense 16/19 - 1
6-161160131-C-T c.1909C>T p.L637= Synonymous 16/19 - 1
6-161160133-G-A c.1911G>A p.L637= Synonymous 16/19 - 1
6-161160133-G-C c.1911G>C p.L637= Synonymous 16/19 - 1
6-161160133-G-T c.1911G>T p.L637= Synonymous 16/19 - 1
6-161160134-G-A c.1912G>A p.G638S Missense 16/19 - 1
6-161160135-G-C c.1913G>C p.G638A Missense 16/19 - 1
6-161160142-C-T c.1920C>T p.H640= Synonymous 16/19 - 1
6-161160143-C-T c.1921C>T p.Q641* Nonsense 16/19 - 1
6-161160146-G-A c.1924G>A p.E642K Missense 16/19 - 1
6-161160158-G-A c.1936G>A p.E646K Missense 16/19 - 5
6-161160162-C-T c.1940C>T p.P647L Missense 16/19 - 3
6-161160163-G-A c.1941G>A p.P647= Synonymous 16/19 - 4
6-161160163-G-C c.1941G>C p.P647= Synonymous 16/19 - 3
6-161160163-G-T c.1941G>T p.P647= Synonymous 16/19 - 3
6-161160166-T-A c.1944T>A p.H648Q Missense 16/19 - 2
6-161160166-T-G c.1944T>G p.H648Q Missense 16/19 - 1
6-161160167-G-A c.1945G>A p.V649I Missense 16/19 - 1
6-161160173-G-A c.1951G>A p.E651K Missense 16/19 - 9
6-161160173-G-C c.1951G>C p.E651Q Missense 16/19 - 1
6-161160174-A-G c.1952A>G p.E651G Missense 16/19 - 1
6-161160177-T-C c.1955T>C p.I652T Missense 16/19 - 1
6-161160179-G-A c.1957G>A p.E653K Missense 16/19 - 2
6-161160184-G-T c.1962G>T p.V654= Synonymous 16/19 - 1
6-161160196-C-T c.1974C>T p.F658= Synonymous 16/19 - 1
6-161160199-G-A c.1977G>A p.L659= Synonymous 16/19 - 3
6-161160200-G-A c.1978G>A p.E660K Missense 16/19 - 1
6-161160200-G-C c.1978G>C p.E660Q Missense 16/19 - 1
6-161160200-G-T c.1978G>T p.E660* Nonsense 16/19 - 2
6-161160209-C-T c.1987C>T p.R663* Nonsense 16/19 - 3
6-161160210-G-A c.1988G>A p.R663Q Missense 16/19 - 15
6-161160210-G-C c.1988G>C p.R663P Missense 16/19 - 1
6-161160215-G-C c.1993G>C p.D665H Missense 16/19 - 9
6-161160215-G-T c.1993G>T p.D665Y Missense 16/19 - 2
6-161160227-C-T c.2005C>T p.L669= Synonymous 16/19 - 3
6-161160229-A-C c.2007A>C p.L669= Synonymous 16/19 - 1
6-161160229-A-G c.2007A>G p.L669= Synonymous 16/19 - 1
6-161160229-A-T c.2007A>T p.L669= Synonymous 16/19 - 1
6-161160234-T-A c.2012T>A p.L671Q Missense 16/19 - 3
6-161160242-T-A c.2018+2T>A - IntronicSNV - 16/18 1
6-161160644-G-A c.2018+404G>A - IntronicSNV - 16/18 1
6-161160644-G-T c.2018+404G>T - IntronicSNV - 16/18 1
6-161161068-C-A c.2018+828C>A - IntronicSNV - 16/18 1
6-161162290-A-G c.2019-53A>G - IntronicSNV - 16/18 1
6-161162344-C-T c.2020C>T p.P674S Missense 17/19 - 2
6-161162345-C-G c.2021C>G p.P674R Missense 17/19 - 1
6-161162347-G-A c.2023G>A p.A675T Missense 17/19 - 1
6-161162348-C-T c.2024C>T p.A675V Missense 17/19 - 4
6-161162350-G-A c.2026G>A p.V676I Missense 17/19 - 7
6-161162350-G-T c.2026G>T p.V676F Missense 17/19 - 1
6-161162351-T-A c.2027T>A p.V676D Missense 17/19 - 3
6-161162365-G-A c.2041G>A p.V681I Missense 17/19 - 1
6-161162365-G-C c.2041G>C p.V681L Missense 17/19 - 3
6-161162365-G-T c.2041G>T p.V681L Missense 17/19 - 5
6-161162366-T-A c.2042T>A p.V681E Missense 17/19 - 1
6-161162369-T-A c.2045T>A p.I682N Missense 17/19 - 9
6-161162370-C-A c.2046C>A p.I682= Synonymous 17/19 - 1
6-161162370-C-T c.2046C>T p.I682= Synonymous 17/19 - 1
6-161162371-C-A c.2047C>A p.P683T Missense 17/19 - 1
6-161162371-C-T c.2047C>T p.P683S Missense 17/19 - 1
6-161162374-G-A c.2050G>A p.A684T Missense 17/19 - 2
6-161162379-T-C c.2055T>C p.C685= Synonymous 17/19 - 1
6-161162380-C-T c.2056C>T p.L686= Synonymous 17/19 - 2
6-161162382-G-A c.2058G>A p.L686= Synonymous 17/19 - 2
6-161162382-G-C c.2058G>C p.L686= Synonymous 17/19 - 2
6-161162382-G-T c.2058G>T p.L686= Synonymous 17/19 - 2
6-161162383-C-A c.2059C>A p.P687T Missense 17/19 - 1
6-161162383-C-G c.2059C>G p.P687A Missense 17/19 - 2
6-161162387-C-G c.2063C>G p.S688C Missense 17/19 - 2
6-161162389-C-A c.2065C>A p.P689T Missense 17/19 - 1
6-161162389-C-T c.2065C>T p.P689S Missense 17/19 - 2
6-161162390-C-T c.2066C>T p.P689L Missense 17/19 - 1
6-161162392-A-G c.2068A>G p.N690D Missense 17/19 - 3
6-161162397-T-C c.2073T>C p.Y691= Synonymous 17/19 - 3
6-161162399-T-C c.2075T>C p.V692A Missense 17/19 - 2
6-161162403-C-T c.2079C>T p.V693= Synonymous 17/19 - 2
6-161162404-G-A c.2080G>A p.A694T Missense 17/19 - 1
6-161162406-T-A c.2082T>A p.A694= Synonymous 17/19 - 1
6-161162406-T-C c.2082T>C p.A694= Synonymous 17/19 - 13
6-161162406-T-G c.2082T>G p.A694= Synonymous 17/19 - 1
6-161162407-G-A c.2083G>A p.D695N Missense 17/19 - 4
6-161162407-G-T c.2083G>T p.D695Y Missense 17/19 - 1
6-161162410-C-T c.2086C>T p.R696W Missense 17/19 - 3
6-161162411-G-A c.2087G>A p.R696Q Missense 17/19 - 7
6-161162413-AC-A c.2091del p.E698Nfs*26 Frameshift 17/19 - 1
6-161162416-G-A c.2092G>A p.E698K Missense 17/19 - 3
6-161162421-T-C c.2097T>C p.C699= Synonymous 17/19 - 1
6-161162431-G-C c.2107G>C p.G703R Missense 17/19 - 1
6-161162432-G-C c.2108G>C p.G703A Missense 17/19 - 1
6-161162435-G-A c.2111G>A p.W704* Nonsense 17/19 - 1
6-161162435-G-T c.2111G>T p.W704L Missense 17/19 - 2
6-161162437-G-A c.2113G>A p.G705R Missense 17/19 - 4
6-161162438-G-A c.2114G>A p.G705E Missense 17/19 - 1
6-161162443-A-T c.2119A>T p.T707S Missense 17/19 - 4
6-161162446-C-G c.2122C>G p.Q708E Missense 17/19 - 2
6-161162448-A-C c.2124A>C p.Q708H Missense 17/19 - 1
6-161162448-AG-A c.2125+1del - IntronicDeletion - 17/18 1
6-161163074-A-G c.2125+625A>G - IntronicSNV - 17/18 1
6-161163074-A-T c.2125+625A>T - IntronicSNV - 17/18 1
6-161163530-T-G c.2125+1081T>G - IntronicSNV - 17/18 1
6-161164724-C-A c.2125+2275C>A - IntronicSNV - 17/18 1
6-161164724-C-T c.2125+2275C>T - IntronicSNV - 17/18 1
6-161165798-G-T c.2125+3349G>T - IntronicSNV - 17/18 1
6-161168548-G-A c.2126-4599G>A - IntronicSNV - 17/18 2
6-161169104-C-T c.2126-4043C>T - IntronicSNV - 17/18 1
6-161170835-A-G c.2126-2312A>G - IntronicSNV - 17/18 3
6-161171682-T-A c.2126-1465T>A - IntronicSNV - 17/18 1
6-161172942-C-A c.2126-205C>A - IntronicSNV - 17/18 2
6-161172942-C-G c.2126-205C>G - IntronicSNV - 17/18 2
6-161172942-C-T c.2126-205C>T - IntronicSNV - 17/18 2
6-161173149-AC-TG c.2128_2129delinsTG p.T710C Missense 18/19 - 1
6-161173149-A-T c.2128A>T p.T710S Missense 18/19 - 1
6-161173150-C-A c.2129C>A p.T710N Missense 18/19 - 2
6-161173155-G-A c.2134G>A p.G712R Missense 18/19 - 5
6-161173155-GGA-TGT c.2134_2136delinsTGT p.G712C Missense 18/19 - 1
6-161173156-G-A c.2135G>A p.G712E Missense 18/19 - 5
6-161173158-G-A c.2137G>A p.A713T Missense 18/19 - 1
6-161173159-C-T c.2138C>T p.A713V Missense 18/19 - 1
6-161173163-C-A c.2142C>A p.G714= Synonymous 18/19 - 1
6-161173163-C-G c.2142C>G p.G714= Synonymous 18/19 - 1
6-161173163-C-T c.2142C>T p.G714= Synonymous 18/19 - 1
6-161173170-A-G c.2149A>G p.K717E Missense 18/19 - 1
6-161173173-G-A c.2152G>A p.E718K Missense 18/19 - 4
6-161173176-G-T c.2155G>T p.A719S Missense 18/19 - 1
6-161173177-C-T c.2156C>T p.A719V Missense 18/19 - 6
6-161173178-C-T c.2157C>T p.A719= Synonymous 18/19 - 3
6-161173180-A-G c.2159A>G p.Q720R Missense 18/19 - 1
6-161173182-C-A c.2161C>A p.L721I Missense 18/19 - 3
6-161173182-C-T c.2161C>T p.L721F Missense 18/19 - 1
6-161173184-C-T c.2163C>T p.L721= Synonymous 18/19 - 1
6-161173185-C-A c.2164C>A p.P722T Missense 18/19 - 6
6-161173186-C-G c.2165C>G p.P722R Missense 18/19 - 1
6-161173191-A-G c.2170A>G p.I724V Missense 18/19 - 1
6-161173194-G-A c.2173G>A p.E725K Missense 18/19 - 2
6-161173196-G-A c.2175G>A p.E725= Synonymous 18/19 - 1
6-161173196-G-C c.2175G>C p.E725D Missense 18/19 - 2
6-161173196-G-T c.2175G>T p.E725D Missense 18/19 - 5
6-161173203-G-A c.2182G>A p.V728M Missense 18/19 - 1
6-161173204-T-A c.2183T>A p.V728E Missense 18/19 - 2
6-161173212-C-T c.2191C>T p.R731C Missense 18/19 - 5
6-161173213-G-A c.2192G>A p.R731H Missense 18/19 - 1
6-161173215-T-C c.2194T>C p.Y732H Missense 18/19 - 1
6-161173218-G-A c.2197G>A p.E733K Missense 18/19 - 1
6-161173219-A-T c.2198A>T p.E733V Missense 18/19 - 1
6-161173230-G-A c.2209G>A p.G737R Missense 18/19 - 2
6-161173231-G-A c.2210G>A p.G737E Missense 18/19 - 1
6-161173233-AGA-TGT c.2212_2214delinsTGT p.R738C Missense 18/19 - 1
6-161173234-G-A c.2213G>A p.R738K Missense 18/19 - 3
6-161173236-G-C c.2215G>C p.V739L Missense 18/19 - 1
6-161173239-C-T c.2218C>T p.Q740* Nonsense 18/19 - 2
6-161173243-C-G c.2222C>G p.S741C Missense 18/19 - 1
6-161173244-C-A c.2223C>A p.S741= Synonymous 18/19 - 1
6-161173244-C-G c.2223C>G p.S741= Synonymous 18/19 - 1
6-161173244-C-T c.2223C>T p.S741= Synonymous 18/19 - 1
6-161173245-A-G c.2224A>G p.T742A Missense 18/19 - 2
6-161173246-C-A c.2225C>A p.T742N Missense 18/19 - 1
6-161173247-C-A c.2226C>A p.T742= Synonymous 18/19 - 1
6-161173247-C-G c.2226C>G p.T742= Synonymous 18/19 - 1
6-161173247-C-T c.2226C>T p.T742= Synonymous 18/19 - 2
6-161173248-G-A c.2227G>A p.E743K Missense 18/19 - 11
6-161173254-T-A c.2233T>A p.C745S Missense 18/19 - 1
6-161173255-G-C c.2234G>C p.C745S Missense 18/19 - 1
6-161173255-G-T c.2234G>T p.C745F Missense 18/19 - 1
6-161173255-GTGC-G c.2237_2239del p.A746del InFrameDeletion 18/19 - 1
6-161173258-C-G c.2237C>G p.A746G Missense 18/19 - 1
6-161173261-G-A c.2240G>A p.G747E Missense 18/19 - 6
6-161173262-G-A c.2241G>A p.G747= Synonymous 18/19 - 1
6-161173264-A-C c.2243A>C p.H748P Missense 18/19 - 1
6-161173267-T-G c.2246T>G p.L749W Missense 18/19 - 1
6-161173270-C-T c.2249C>T p.A750V Missense 18/19 - 4
6-161173271-C-A c.2250C>A p.A750= Synonymous 18/19 - 1
6-161173271-C-G c.2250C>G p.A750= Synonymous 18/19 - 1
6-161173271-C-T c.2250C>T p.A750= Synonymous 18/19 - 2
6-161173272-G-A c.2251G>A p.G751R Missense 18/19 - 7
6-161173272-G-C c.2251G>C p.G751R Missense 18/19 - 3
6-161173273-G-C c.2252G>C p.G751A Missense 18/19 - 1
6-161173274-A-C c.2253A>C p.G751= Synonymous 18/19 - 1
6-161173274-A-G c.2253A>G p.G751= Synonymous 18/19 - 1
6-161173274-A-T c.2253A>T p.G751= Synonymous 18/19 - 1
6-161173276-GC-AG c.2255_2256delinsAG p.G752E Missense 18/19 - 1
6-161173280-T-C c.2259T>C p.T753= Synonymous 18/19 - 1
6-161173281-G-C c.2260G>C p.D754H Missense 18/19 - 1
6-161173282-A-G c.2261A>G p.D754G Missense 18/19 - 1
6-161173292-G-A c.2271G>A p.Q757= Synonymous 18/19 - 1
6-161173308-G-A c.2271+16G>A - IntronicSNV - 18/18 1
6-161173610-A-G c.2271+318A>G - IntronicSNV - 18/18 1
6-161173728-C-G c.2272-204C>G - IntronicSNV - 18/18 1
6-161173933-G-C c.2273G>C p.G758A Missense 19/19 - 1
6-161173935-G-A c.2275G>A p.D759N Missense 19/19 - 1
6-161173936-A-G c.2276A>G p.D759G Missense 19/19 - 1
6-161173941-G-A c.2281G>A p.G761R Missense 19/19 - 2
6-161173941-G-C c.2281G>C p.G761R Missense 19/19 - 2
6-161173943-A-C c.2283A>C p.G761= Synonymous 19/19 - 3
6-161173943-A-G c.2283A>G p.G761= Synonymous 19/19 - 2
6-161173943-A-T c.2283A>T p.G761= Synonymous 19/19 - 2
6-161173946-T-A c.2286T>A p.G762= Synonymous 19/19 - 2
6-161173946-T-C c.2286T>C p.G762= Synonymous 19/19 - 2
6-161173946-T-G c.2286T>G p.G762= Synonymous 19/19 - 21
6-161173954-T-C c.2294T>C p.V765A Missense 19/19 - 1
6-161173956-TG-AC c.2296_2297delinsAC p.C766T Missense 19/19 - 1
6-161173962-G-A c.2302G>A p.E768K Missense 19/19 - 1
6-161173964-G-C c.2304G>C p.E768D Missense 19/19 - 3
6-161173964-G-T c.2304G>T p.E768D Missense 19/19 - 3
6-161173967-G-C c.2307G>C p.K769N Missense 19/19 - 1
6-161173967-G-T c.2307G>T p.K769N Missense 19/19 - 1
6-161173982-A-C c.2322A>C p.L774F Missense 19/19 - 3
6-161173982-A-T c.2322A>T p.L774F Missense 19/19 - 2
6-161173986-GGA-AGC c.2326_2328delinsAGC p.G776S Missense 19/19 - 1
6-161173987-G-A c.2327G>A p.G776E Missense 19/19 - 1
6-161173987-GA-AC c.2327_2328delinsAC p.G776D Missense 19/19 - 1
6-161173996-C-T c.2336C>T p.S779F Missense 19/19 - 4
6-161174003-T-A c.2343T>A p.G781= Synonymous 19/19 - 2
6-161174003-T-C c.2343T>C p.G781= Synonymous 19/19 - 3
6-161174003-T-G c.2343T>G p.G781= Synonymous 19/19 - 2
6-161174009-C-T c.2349C>T p.G783= Synonymous 19/19 - 1
6-161174010-TG-AC c.2350_2351delinsAC p.C784T Missense 19/19 - 1
6-161174013-G-T c.2353G>T p.A785S Missense 19/19 - 1
6-161174016-CGC-TGA c.2356_2358delinsTGA p.R786* Nonsense 19/19 - 1
6-161174016-C-T c.2356C>T p.R786C Missense 19/19 - 3
6-161174017-G-A c.2357G>A p.R786H Missense 19/19 - 2
6-161174017-G-T c.2357G>T p.R786L Missense 19/19 - 2
6-161174018-C-T c.2358C>T p.R786= Synonymous 19/19 - 3
6-161174034-G-T c.2374G>T p.V792F Missense 19/19 - 1
6-161174037-T-A c.2377T>A p.Y793N Missense 19/19 - 1
6-161174038-A-C c.2378A>C p.Y793S Missense 19/19 - 1
6-161174038-A-T c.2378A>T p.Y793F Missense 19/19 - 2
6-161174043-CGT-TGA c.2383_2385delinsTGA p.R795* Nonsense 19/19 - 1
6-161174043-C-T c.2383C>T p.R795C Missense 19/19 - 3
6-161174044-G-A c.2384G>A p.R795H Missense 19/19 - 1
6-161174052-A-G c.2392A>G p.R798G Missense 19/19 - 1
6-161174057-T-C c.2397T>C p.F799= Synonymous 19/19 - 1
6-161174062-C-G c.2402C>G p.T801S Missense 19/19 - 1
6-161174062-C-T c.2402C>T p.T801I Missense 19/19 - 2
6-161174062-CT-GG c.2402_2403delinsGG p.T801R Missense 19/19 - 1
6-161174065-G-A c.2405G>A p.W802* Nonsense 19/19 - 1
6-161174066-G-C c.2406G>C p.W802C Missense 19/19 - 1
6-161174066-G-T c.2406G>T p.W802C Missense 19/19 - 1
6-161174073-G-A c.2413G>A p.G805R Missense 19/19 - 1
6-161174074-G-A c.2414G>A p.G805E Missense 19/19 - 1
6-161174074-G-T c.2414G>T p.G805V Missense 19/19 - 1
6-161174077-T-G c.2417T>G p.V806G Missense 19/19 - 1
6-161174085-A-G c.2425A>G p.N809D Missense 19/19 - 2
6-161174086-A-G c.2426A>G p.N809S Missense 19/19 - 1
6-161174087-T-A c.2427T>A p.N809K Missense 19/19 - 1
6-161174087-T-G c.2427T>G p.N809K Missense 19/19 - 1
6-161174138-A-G c.*45A>G - 3-UTRSNV 19/19 - 7
6-161174579-T-C c.*486T>C - 3-UTRSNV 19/19 - 4
6-161174594-A-G c.*501A>G - 3-UTRSNV 19/19 - 3
6-161174658-G-A c.*565G>A - 3-UTRSNV 19/19 - 2
6-161174871-C-A c.*778C>A - 3-UTRSNV 19/19 - 5
6-161174871-C-G c.*778C>G - 3-UTRSNV 19/19 - 5
6-161175004-C-T c.*911C>T - 3-UTRSNV 19/19 - 1