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 |