TNFRSF1A

TNFRSF1A TNF receptor superfamily member 1A

Annotation transcript: NM_001065.4

734 unique variant annotations were identified in 910 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
12-6438145-C-T c.*333G>A - 3-UTRSNV 10/10 - 2
12-6438226-T-C c.*252A>G - 3-UTRSNV 10/10 - 1
12-6438355-A-G c.*123T>C - 3-UTRSNV 10/10 - 1
12-6438490-A-C c.1356T>G p.S452R Missense 10/10 - 1
12-6438490-A-T c.1356T>A p.S452R Missense 10/10 - 2
12-6438492-T-A c.1354A>T p.S452C Missense 10/10 - 1
12-6438492-T-C c.1354A>G p.S452G Missense 10/10 - 1
12-6438492-T-G c.1354A>C p.S452R Missense 10/10 - 2
12-6438496-C-A c.1350G>T p.A450= Synonymous 10/10 - 1
12-6438496-C-G c.1350G>C p.A450= Synonymous 10/10 - 1
12-6438496-C-T c.1350G>A p.A450= Synonymous 10/10 - 1
12-6438498-C-T c.1348G>A p.A450T Missense 10/10 - 2
12-6438499-G-A c.1347C>T p.P449= Synonymous 10/10 - 3
12-6438499-G-C c.1347C>G p.P449= Synonymous 10/10 - 1
12-6438499-G-T c.1347C>A p.P449= Synonymous 10/10 - 1
12-6438500-G-A c.1346C>T p.P449L Missense 10/10 - 1
12-6438502-C-A c.1344G>T p.P448= Synonymous 10/10 - 1
12-6438502-C-G c.1344G>C p.P448= Synonymous 10/10 - 1
12-6438502-C-T c.1344G>A p.P448= Synonymous 10/10 - 1
12-6438503-G-A c.1343C>T p.P448L Missense 10/10 - 4
12-6438504-G-A c.1342C>T p.P448S Missense 10/10 - 1
12-6438506-A-C c.1340T>G p.L447R Missense 10/10 - 1
12-6438506-A-T c.1340T>A p.L447H Missense 10/10 - 1
12-6438507-G-A c.1339C>T p.L447F Missense 10/10 - 2
12-6438512-G-A c.1334C>T p.A445V Missense 10/10 - 1
12-6438513-C-T c.1333G>A p.A445T Missense 10/10 - 1
12-6438514-G-A c.1332C>T p.P444= Synonymous 10/10 - 1
12-6438514-G-C c.1332C>G p.P444= Synonymous 10/10 - 1
12-6438514-G-T c.1332C>A p.P444= Synonymous 10/10 - 1
12-6438518-C-A c.1328G>T p.G443V Missense 10/10 - 3
12-6438519-C-T c.1327G>A p.G443S Missense 10/10 - 1
12-6438520-G-A c.1326C>T p.C442= Synonymous 10/10 - 1
12-6438527-G-A c.1319C>T p.A440V Missense 10/10 - 2
12-6438542-T-A c.1304A>T p.E435V Missense 10/10 - 1
12-6438550-AGCC-A c.1294_1296del p.G432del InFrameDeletion 10/10 - 1
12-6438550-G-A c.1296C>T p.G432= Synonymous 10/10 - 1
12-6438550-G-C c.1296C>G p.G432= Synonymous 10/10 - 1
12-6438550-G-T c.1296C>A p.G432= Synonymous 10/10 - 1
12-6438549-AGCCCAGCAGGTCCATGTC-A c.1279_1296del p.D427_G432del InFrameDeletion 10/10 - 1
12-6438562-C-T c.1284G>A p.M428I Missense 10/10 - 1
12-6438568-G-A c.1278C>T p.R426= Synonymous 10/10 - 2
12-6438568-G-C c.1278C>G p.R426= Synonymous 10/10 - 1
12-6438568-G-T c.1278C>A p.R426= Synonymous 10/10 - 1
12-6438569-C-T c.1277G>A p.R426H Missense 10/10 - 2
12-6438570-G-A c.1276C>T p.R426C Missense 10/10 - 1
12-6438571-G-A c.1275C>T p.L425= Synonymous 10/10 - 4
12-6438571-G-C c.1275C>G p.L425= Synonymous 10/10 - 1
12-6438571-G-T c.1275C>A p.L425= Synonymous 10/10 - 1
12-6438576-C-T c.1270G>A p.V424M Missense 10/10 - 1
12-6438579-G-A c.1267C>T p.R423C Missense 10/10 - 3
12-6438582-C-T c.1264G>A p.G422R Missense 10/10 - 1
12-6438591-C-T c.1255G>A p.E419K Missense 10/10 - 2
12-6438592-C-A c.1254G>T p.L418= Synonymous 10/10 - 1
12-6438592-C-G c.1254G>C p.L418= Synonymous 10/10 - 1
12-6438592-C-T c.1254G>A p.L418= Synonymous 10/10 - 1
12-6438594-G-A c.1252C>T p.L418= Synonymous 10/10 - 1
12-6438595-C-T c.1251G>A p.T417= Synonymous 10/10 - 1
12-6438599-G-A c.1247C>T p.A416V Missense 10/10 - 2
12-6438604-G-A c.1242C>T p.R414= Synonymous 10/10 - 2
12-6438604-G-C c.1242C>G p.R414= Synonymous 10/10 - 1
12-6438604-G-T c.1242C>A p.R414= Synonymous 10/10 - 1
12-6438606-G-A c.1240C>T p.R414C Missense 10/10 - 1
12-6438607-C-T c.1239G>A p.R413= Synonymous 10/10 - 1
12-6438609-G-C c.1237C>G p.R413G Missense 10/10 - 1
12-6438610-C-A c.1236G>T p.P412= Synonymous 10/10 - 2
12-6438610-C-G c.1236G>C p.P412= Synonymous 10/10 - 2
12-6438610-C-T c.1236G>A p.P412= Synonymous 10/10 - 3
12-6438612-G-C c.1234C>G p.P412A Missense 10/10 - 2
12-6438612-G-T c.1234C>A p.P412T Missense 10/10 - 1
12-6438614-G-A c.1232C>T p.T411M Missense 10/10 - 2
12-6438616-G-A c.1230C>T p.R410= Synonymous 10/10 - 1
12-6438616-G-C c.1230C>G p.R410= Synonymous 10/10 - 1
12-6438616-G-T c.1230C>A p.R410= Synonymous 10/10 - 1
12-6438617-C-T c.1229G>A p.R410H Missense 10/10 - 1
12-6438618-G-A c.1228C>T p.R410C Missense 10/10 - 1
12-6438620-CG-GC c.1225_1226delinsGC p.R409A Missense 10/10 - 1
12-6438620-C-T c.1226G>A p.R409Q Missense 10/10 - 2
12-6438621-G-A c.1225C>T p.R409W Missense 10/10 - 1
12-6438623-C-T c.1223G>A p.R408K Missense 10/10 - 3
12-6438623-CT-TG c.1222_1223delinsCA p.R408Q Missense 10/10 - 2
12-6438624-T-A c.1222A>T p.R408W Missense 10/10 - 1
12-6438629-G-A c.1217C>T p.T406I Missense 10/10 - 1
12-6438630-T-C c.1216A>G p.T406A Missense 10/10 - 1
12-6438638-A-G c.1208T>C p.M403T Missense 10/10 - 1
12-6438641-C-T c.1205G>A p.S402N Missense 10/10 - 1
12-6438644-T-A c.1202A>T p.Y401F Missense 10/10 - 3
12-6438649-C-A c.1197G>T p.A399= Synonymous 10/10 - 1
12-6438649-C-T c.1197G>A p.A399= Synonymous 10/10 - 1
12-6438650-G-A c.1196C>T p.A399V Missense 10/10 - 2
12-6438652-C-A c.1194G>T p.E398D Missense 10/10 - 1
12-6438654-C-T c.1192G>A p.E398K Missense 10/10 - 4
12-6438655-G-A c.1191C>T p.R397= Synonymous 10/10 - 3
12-6438655-G-C c.1191C>G p.R397= Synonymous 10/10 - 2
12-6438655-G-T c.1191C>A p.R397= Synonymous 10/10 - 2
12-6438656-C-T c.1190G>A p.R397H Missense 10/10 - 2
12-6438657-G-A c.1189C>T p.R397C Missense 10/10 - 1
12-6438659-A-C c.1187T>G p.L396R Missense 10/10 - 1
12-6438662-CA-GT c.1183_1184delinsAC p.C395T Missense 10/10 - 1
12-6438663-A-G c.1183T>C p.C395R Missense 10/10 - 1
12-6438665-C-T c.1181G>A p.R394H Missense 10/10 - 3
12-6438668-C-T c.1178G>A p.G393E Missense 10/10 - 1
12-6438670-G-A c.1176C>T p.N392= Synonymous 10/10 - 1
12-6438670-G-C c.1176C>G p.N392K Missense 10/10 - 3
12-6438670-G-T c.1176C>A p.N392K Missense 10/10 - 3
12-6438683-A-C c.1163T>G p.L388R Missense 10/10 - 1
12-6438684-G-A c.1162C>T p.L388= Synonymous 10/10 - 1
12-6438685-C-A c.1161G>T p.R387= Synonymous 10/10 - 1
12-6438686-C-T c.1160G>A p.R387Q Missense 10/10 - 2
12-6438687-G-A c.1159C>T p.R387W Missense 10/10 - 3
12-6438688-A-G c.1158T>C p.D386= Synonymous 10/10 - 1
12-6438691-G-A c.1155C>T p.I385= Synonymous 10/10 - 4
12-6438695-T-G c.1151A>C p.E384A Missense 10/10 - 1
12-6438696-C-T c.1150G>A p.E384K Missense 10/10 - 2
12-6438700-G-C c.1146C>G p.D382E Missense 10/10 - 1
12-6438702-C-A c.1144G>T p.D382Y Missense 10/10 - 1
12-6438702-C-T c.1144G>A p.D382N Missense 10/10 - 2
12-6438703-G-A c.1143C>T p.S381= Synonymous 10/10 - 2
12-6438704-CT-GC c.1141_1142delinsGC p.S381A Missense 10/10 - 2
12-6438704-CT-TC c.1141_1142delinsGA p.S381D Missense 10/10 - 1
12-6438707-AG-GC c.1138_1139delinsGC p.L380A Missense 10/10 - 3
12-6438710-C-T c.1136G>A p.G379E Missense 10/10 - 1
12-6438723-C-G c.1123G>C p.V375L Missense 10/10 - 1
12-6438724-G-A c.1122C>T p.F374= Synonymous 10/10 - 5
12-6438737-C-A c.1109G>T p.R370L Missense 10/10 - 1
12-6438737-C-T c.1109G>A p.R370H Missense 10/10 - 3
12-6438738-G-A c.1108C>T p.R370C Missense 10/10 - 2
12-6438743-G-A c.1103C>T p.P368L Missense 10/10 - 3
12-6438745-G-A c.1101C>T p.P367= Synonymous 10/10 - 2
12-6438745-G-C c.1101C>G p.P367= Synonymous 10/10 - 1
12-6438745-G-T c.1101C>A p.P367= Synonymous 10/10 - 1
12-6438749-A-G c.1097T>C p.V366A Missense 10/10 - 1
12-6438751-GT-G c.1094del p.N365Tfs*14 Frameshift 10/10 - 1
12-6438758-A-G c.1088T>C p.V363A Missense 10/10 - 1
12-6438759-C-T c.1087G>A p.V363M Missense 10/10 - 1
12-6438761-A-C c.1085T>G p.V362G Missense 10/10 - 1
12-6438762-C-T c.1084G>A p.V362M Missense 10/10 - 1
12-6438767-T-A c.1079A>T p.Y360F Missense 10/10 - 1
12-6438769-C-A c.1077G>T p.L359= Synonymous 10/10 - 1
12-6438769-C-G c.1077G>C p.L359= Synonymous 10/10 - 1
12-6438769-C-T c.1077G>A p.L359= Synonymous 10/10 - 1
12-6438771-G-A c.1075C>T p.L359= Synonymous 10/10 - 1
12-6438773-G-A c.1073C>T p.T358M Missense 10/10 - 1
12-6438776-G-A c.1070C>T p.A357V Missense 10/10 - 1
12-6438777-C-T c.1069G>A p.A357T Missense 10/10 - 1
12-6438778-G-A c.1068C>T p.P356= Synonymous 10/10 - 1
12-6438778-G-C c.1068C>G p.P356= Synonymous 10/10 - 1
12-6438778-G-T c.1068C>A p.P356= Synonymous 10/10 - 1
12-6438785-T-C c.1061A>G p.D354G Missense 10/10 - 2
12-6438787-AG-CA c.1058_1059delinsTG p.T353M Missense 10/10 - 1
12-6438872-C-T c.1057+72G>A - IntronicSNV - 9/9 1
12-6438931-G-A c.1057+13C>T - IntronicSNV - 9/9 1
12-6438948-TAG-ATA c.1051_1053delinsTAT p.L351Y Missense 9/10 - 1
12-6438949-A-G c.1052T>C p.L351P Missense 9/10 - 4
12-6438949-AG-GC c.1051_1052delinsGC p.L351A Missense 9/10 - 1
12-6438950-G-A c.1051C>T p.L351= Synonymous 9/10 - 1
12-6438951-G-T c.1050C>A p.S350R Missense 9/10 - 1
12-6438970-C-T c.1031G>A p.S344N Missense 9/10 - 1
12-6438977-C-T c.1024G>A p.E342K Missense 9/10 - 4
12-6438980-A-C c.1021T>G p.W341G Missense 9/10 - 2
12-6438982-T-C c.1019A>G p.K340R Missense 9/10 - 1
12-6438983-T-C c.1018A>G p.K340E Missense 9/10 - 1
12-6438986-G-C c.1015C>G p.Q339E Missense 9/10 - 1
12-6438986-G-T c.1015C>A p.Q339K Missense 9/10 - 1
12-6438991-G-A c.1010C>T p.P337L Missense 9/10 - 2
12-6438995-T-G c.1006A>C p.N336H Missense 9/10 - 1
12-6438997-G-C c.1004C>G p.P335R Missense 9/10 - 1
12-6439002-G-A c.999C>T p.P333= Synonymous 9/10 - 1
12-6439004-G-A c.997C>T p.P333S Missense 9/10 - 2
12-6439008-G-A c.993C>T p.S331= Synonymous 9/10 - 3
12-6439009-G-A c.992C>T p.S331F Missense 9/10 - 1
12-6439012-GC-AG c.988_989delinsCT p.A330L Missense 9/10 - 1
12-6439013-C-T c.988G>A p.A330T Missense 9/10 - 2
12-6439014-G-A c.987C>T p.L329= Synonymous 9/10 - 2
12-6439016-G-A c.985C>T p.L329F Missense 9/10 - 1
12-6439019-C-T c.982G>A p.A328T Missense 9/10 - 1
12-6439024-G-A c.977C>T p.A326V Missense 9/10 - 1
12-6439029-G-A c.972C>T p.I324= Synonymous 9/10 - 1
12-6439033-G-A c.968C>T p.P323L Missense 9/10 - 2
12-6439035-G-C c.966C>G p.D322E Missense 9/10 - 1
12-6439035-G-T c.966C>A p.D322E Missense 9/10 - 3
12-6439039-G-A c.962C>T p.A321V Missense 9/10 - 1
12-6439040-C-T c.961G>A p.A321T Missense 9/10 - 1
12-6439041-CC-GT c.959_960delinsAC p.G320D Missense 9/10 - 1
12-6439042-C-T c.959G>A p.G320E Missense 9/10 - 2
12-6439045-CT-C c.956del p.Q319Rfs*33 Frameshift 9/10 - 1
12-6439046-G-A c.955C>T p.Q319* Nonsense 9/10 - 1
12-6439052-G-C c.949C>G p.P317A Missense 9/10 - 1
12-6439055-G-A c.946C>T p.P316S Missense 9/10 - 1
12-6439055-G-C c.946C>G p.P316A Missense 9/10 - 1
12-6439058-C-T c.943G>A p.A315T Missense 9/10 - 1
12-6439063-T-G c.938A>C p.E313A Missense 9/10 - 1
12-6439065-T-C c.936A>G p.R312= Synonymous 9/10 - 1
12-6439065-TCT-ATG c.934_936delinsCAT p.R312H Missense 9/10 - 1
12-6439067-T-G c.934A>C p.R312= Synonymous 9/10 - 1
12-6439066-C-G c.935G>C p.R312T Missense 9/10 - 1
12-6439066-C-T c.935G>A p.R312K Missense 9/10 - 6
12-6439068-GCG-CCA c.931_933delinsTGG p.R311W Missense 9/10 - 2
12-6439069-C-T c.932G>A p.R311H Missense 9/10 - 1
12-6439070-G-A c.931C>T p.R311C Missense 9/10 - 1
12-6439072-G-A c.929C>T p.P310L Missense 9/10 - 3
12-6439072-GG-TC c.928_929delinsGA p.P310D Missense 9/10 - 1
12-6439073-G-A c.928C>T p.P310S Missense 9/10 - 3
12-6439083-G-T c.918C>A p.N306K Missense 9/10 - 1
12-6439087-G-A c.914C>T p.P305L Missense 9/10 - 2
12-6439087-G-C c.914C>G p.P305R Missense 9/10 - 1
12-6439088-G-C c.913C>G p.P305A Missense 9/10 - 1
12-6439088-G-T c.913C>A p.P305T Missense 9/10 - 3
12-6439093-T-C c.908A>G p.D303G Missense 9/10 - 2
12-6439094-C-T c.907G>A p.D303N Missense 9/10 - 1
12-6439095-AC-A c.905del p.G302Vfs*50 Frameshift 9/10 - 1
12-6439097-C-T c.904G>A p.G302S Missense 9/10 - 1
12-6439098-G-A c.903C>T p.P301= Synonymous 9/10 - 1
12-6439098-G-C c.903C>G p.P301= Synonymous 9/10 - 1
12-6439098-G-T c.903C>A p.P301= Synonymous 9/10 - 1
12-6439099-G-A c.902C>T p.P301L Missense 9/10 - 14
12-6439099-G-T c.902C>A p.P301H Missense 9/10 - 1
12-6439100-G-A c.901C>T p.P301S Missense 9/10 - 5
12-6439103-T-C c.898A>G p.T300A Missense 9/10 - 2
12-6439106-A-C c.895T>G p.Y299D Missense 9/10 - 1
12-6439107-G-A c.894C>T p.T298= Synonymous 9/10 - 1
12-6439109-T-C c.892A>G p.T298A Missense 9/10 - 1
12-6439109-T-G c.892A>C p.T298P Missense 9/10 - 1
12-6439113-G-A c.888C>T p.S296= Synonymous 9/10 - 1
12-6439123-A-G c.878T>C p.F293S Missense 9/10 - 1
12-6439124-A-G c.877T>C p.F293L Missense 9/10 - 1
12-6439131-A-C c.870T>G p.S290R Missense 9/10 - 1
12-6439135-G-A c.866C>T p.P289L Missense 9/10 - 1
12-6439136-G-A c.865C>T p.P289S Missense 9/10 - 1
12-6439136-G-C c.865C>G p.P289A Missense 9/10 - 1
12-6439139-C-G c.862G>C p.V288L Missense 9/10 - 1
12-6439139-C-T c.862G>A p.V288M Missense 9/10 - 2
12-6439140-G-A c.861C>T p.P287= Synonymous 9/10 - 1
12-6439140-G-C c.861C>G p.P287= Synonymous 9/10 - 1
12-6439140-G-T c.861C>A p.P287= Synonymous 9/10 - 1
12-6439141-G-A c.860C>T p.P287L Missense 9/10 - 1
12-6439144-C-A c.857G>T p.S286I Missense 9/10 - 1
12-6439144-C-T c.857G>A p.S286N Missense 9/10 - 1
12-6439144-CT-TA c.856_857delinsTA p.S286Y Missense 9/10 - 1
12-6439146-G-A c.855C>T p.F285= Synonymous 9/10 - 1
12-6439150-C-A c.851G>T p.G284V Missense 9/10 - 1
12-6439156-G-T c.845C>A p.T282N Missense 9/10 - 1
12-6439157-T-G c.844A>C p.T282P Missense 9/10 - 1
12-6439158-G-GA c.842_843insT p.T282Hfs*22 Frameshift 9/10 - 1
12-6439159-G-GA c.841_842insT p.P281Lfs*23 Frameshift 9/10 - 1
12-6439157-T-TG c.843dup p.T282Hfs*22 Frameshift 9/10 - 1
12-6439172-G-C c.829C>G p.P277A Missense 9/10 - 2
12-6439176-G-A c.825C>T p.P275= Synonymous 9/10 - 2
12-6439178-G-A c.823C>T p.P275S Missense 9/10 - 4
12-6439180-C-T c.821G>A p.S274N Missense 9/10 - 1
12-6439180-CT-AG c.820_821inv p.S274L Missense 9/10 - 1
12-6439182-G-C c.819C>G p.F273L Missense 9/10 - 1
12-6439182-G-T c.819C>A p.F273L Missense 9/10 - 1
12-6439184-A-G c.817T>C p.F273L Missense 9/10 - 2
12-6439186-CT-AA c.814_815delinsTT p.S272F Missense 9/10 - 2
12-6439189-G-A c.812C>T p.P271L Missense 9/10 - 1
12-6439190-G-A c.811C>T p.P271S Missense 9/10 - 1
12-6439195-G-C c.806C>G p.P269R Missense 9/10 - 2
12-6439196-G-C c.805C>G p.P269A Missense 9/10 - 1
12-6439196-G-T c.805C>A p.P269T Missense 9/10 - 1
12-6439197-G-T c.804C>A p.A268= Synonymous 9/10 - 1
12-6439203-G-A c.798C>T p.P266= Synonymous 9/10 - 1
12-6439203-G-C c.798C>G p.P266= Synonymous 9/10 - 1
12-6439203-G-T c.798C>A p.P266= Synonymous 9/10 - 1
12-6439206-C-A c.795G>T p.K265N Missense 9/10 - 1
12-6439206-C-G c.795G>C p.K265N Missense 9/10 - 1
12-6439207-T-C c.794A>G p.K265R Missense 9/10 - 1
12-6439208-T-A c.793A>T p.K265* Nonsense 9/10 - 2
12-6439219-C-A c.782G>T p.G261V Missense 9/10 - 1
12-6439226-G-T c.775C>A p.L259I Missense 9/10 - 1
12-6439228-T-C c.773A>G p.E258G Missense 9/10 - 1
12-6439228-T-G c.773A>C p.E258A Missense 9/10 - 1
12-6439229-C-G c.772G>C p.E258Q Missense 9/10 - 1
12-6439232-C-G c.769G>C p.G257R Missense 9/10 - 2
12-6439255-A-G c.769-23T>C - IntronicSNV - 8/9 7
12-6439431-A-G c.768+2T>C - IntronicSNV - 8/9 1
12-6439434-T-C c.767A>G p.E256G Missense 8/10 - 1
12-6439435-C-T c.766G>A p.E256K Missense 8/10 - 2
12-6439436-T-C c.765A>G p.K255= Synonymous 8/10 - 1
12-6439439-T-G c.762A>C p.E254D Missense 8/10 - 2
12-6439441-C-T c.760G>A p.E254K Missense 8/10 - 1
12-6439443-G-T c.758C>A p.P253H Missense 8/10 - 1
12-6439444-G-C c.757C>G p.P253A Missense 8/10 - 1
12-6439445-T-A c.756A>T p.T252= Synonymous 8/10 - 1
12-6439445-T-C c.756A>G p.T252= Synonymous 8/10 - 1
12-6439445-T-G c.756A>C p.T252= Synonymous 8/10 - 1
12-6439448-C-A c.753G>T p.S251= Synonymous 8/10 - 1
12-6439448-C-G c.753G>C p.S251= Synonymous 8/10 - 1
12-6439448-C-T c.753G>A p.S251= Synonymous 8/10 - 3
12-6439450-A-C c.751T>G p.S251A Missense 8/10 - 1
12-6439451-T-A c.750A>T p.K250N Missense 8/10 - 1
12-6439451-T-G c.750A>C p.K250N Missense 8/10 - 1
12-6439458-CA-GT c.742_743delinsAC p.C248T Missense 8/10 - 1
12-6439470-A-G c.740-9T>C - IntronicSNV - 7/9 15
12-6439652-C-A c.739+112G>T - IntronicSNV - 7/9 1
12-6439652-C-T c.739+112G>A - IntronicSNV - 7/9 1
12-6439727-C-T c.739+37G>A - IntronicSNV - 7/9 1
12-6439733-G-A c.739+31C>T - IntronicSNV - 7/9 1
12-6439736-C-A c.739+28G>T - IntronicSNV - 7/9 1
12-6439736-C-T c.739+28G>A - IntronicSNV - 7/9 1
12-6439740-C-A c.739+24G>T - IntronicSNV - 7/9 1
12-6439740-C-G c.739+24G>C - IntronicSNV - 7/9 1
12-6439746-C-T c.739+18G>A - IntronicSNV - 7/9 1
12-6439763-C-T c.739+1G>A - IntronicSNV - 7/9 1
12-6439765-AAT-CTC c.736_738delinsGAG p.I246E Missense 7/10 - 1
12-6439766-A-T c.737T>A p.I246N Missense 7/10 - 1
12-6439769-G-A c.734C>T p.S245F Missense 7/10 - 1
12-6439777-C-T c.726G>A p.K242= Synonymous 7/10 - 1
12-6439781-G-C c.722C>G p.S241C Missense 7/10 - 1
12-6439782-A-C c.721T>G p.S241A Missense 7/10 - 1
12-6439783-C-T c.720G>A p.K240= Synonymous 7/10 - 1
12-6439785-TCCA-T c.715_717del p.W239del InFrameDeletion 7/10 - 1
12-6439790-C-T c.713G>A p.R238Q Missense 7/10 - 1
12-6439791-G-A c.712C>T p.R238W Missense 7/10 - 2
12-6439793-T-C c.710A>G p.Q237R Missense 7/10 - 1
12-6439796-TA-GC c.706_707delinsGC p.Y236A Missense 7/10 - 1
12-6439798-GC-TT c.704_705delinsAA p.R235Q Missense 7/10 - 1
12-6439799-C-T c.704G>A p.R235H Missense 7/10 - 1
12-6439802-T-C c.701A>G p.Y234C Missense 7/10 - 1
12-6439803-A-G c.700T>C p.Y234H Missense 7/10 - 1
12-6439805-A-G c.698T>C p.M233T Missense 7/10 - 1
12-6439810-A-G c.693T>C p.G231= Synonymous 7/10 - 2
12-6439811-C-A c.692G>T p.G231V Missense 7/10 - 1
12-6439812-CA-C c.690del p.I230Mfs*3 Frameshift 7/10 - 2
12-6439816-G-C c.687C>G p.F229L Missense 7/10 - 1
12-6439816-G-T c.687C>A p.F229L Missense 7/10 - 1
12-6439821-G-A c.682C>T p.L228F Missense 7/10 - 1
12-6439822-G-A c.681C>T p.L227= Synonymous 7/10 - 2
12-6439822-GAG-TTA c.679_681delinsTAA p.L227* Nonsense 7/10 - 1
12-6439822-G-C c.681C>G p.L227= Synonymous 7/10 - 2
12-6439822-G-T c.681C>A p.L227= Synonymous 7/10 - 3
12-6439818-AGAG-A c.682_684del p.L228del InFrameDeletion 7/10 - 1
12-6439826-G-A c.677C>T p.S226F Missense 7/10 - 3
12-6439827-A-C c.676T>G p.S226A Missense 7/10 - 1
12-6439827-A-G c.676T>C p.S226P Missense 7/10 - 1
12-6439828-TA-AT c.674_675delinsAT p.L225Y Missense 7/10 - 1
12-6439830-A-C c.673T>G p.L225V Missense 7/10 - 1
12-6439831-A-C c.672T>G p.L224= Synonymous 7/10 - 1
12-6439831-A-G c.672T>C p.L224= Synonymous 7/10 - 2
12-6439831-A-T c.672T>A p.L224= Synonymous 7/10 - 1
12-6439835-GCA-G c.667_668del p.C223Pfs*31 Frameshift 7/10 - 1
12-6439836-A-G c.667T>C p.C223R Missense 7/10 - 1
12-6439839-G-A c.664C>T p.L222F Missense 7/10 - 2
12-6439841-CC-TA c.661_662delinsTA p.G221Y Missense 7/10 - 1
12-6439841-C-T c.662G>A p.G221D Missense 7/10 - 2
12-6439844-A-G c.659T>C p.F220S Missense 7/10 - 4
12-6439843-A-C c.660T>G p.F220L Missense 7/10 - 1
12-6439843-A-T c.660T>A p.F220L Missense 7/10 - 1
12-6439845-A-G c.658T>C p.F220L Missense 7/10 - 1
12-6439846-G-A c.657C>T p.F219= Synonymous 7/10 - 1
12-6439858-G-A c.645C>T p.P215= Synonymous 7/10 - 1
12-6439858-G-C c.645C>G p.P215= Synonymous 7/10 - 1
12-6439858-G-T c.645C>A p.P215= Synonymous 7/10 - 1
12-6439860-G-A c.643C>T p.P215S Missense 7/10 - 1
12-6439861-C-A c.642G>T p.L214F Missense 7/10 - 1
12-6439861-C-G c.642G>C p.L214F Missense 7/10 - 1
12-6439862-AA-CT c.640_641delinsAG p.L214R Missense 7/10 - 1
12-6439872-TG-T c.630del p.T211Qfs*22 Frameshift 7/10 - 1
12-6439877-C-G c.626G>C p.G209A Missense 7/10 - 1
12-6440009-T-C c.625+10A>G - IntronicSNV - 6/9 123
12-6440019-C-A c.625G>T p.G209C Missense 6/10 - 1
12-6440019-C-T c.625G>A p.G209S Missense 6/10 - 1
12-6440021-G-A c.623C>T p.S208L Missense 6/10 - 4
12-6440021-GA-TC c.622_623inv p.S208E Missense 6/10 - 1
12-6440025-C-T c.619G>A p.D207N Missense 6/10 - 2
12-6440030-G-A c.614C>T p.T205I Missense 6/10 - 1
12-6440032-TGCC-T c.610_612del p.G204del InFrameDeletion 6/10 - 1
12-6440031-TGCCCTTAACATTCTCAATCTGGGGTAG-T c.586_612del p.L196_G204del InFrameDeletion 6/10 - 1
12-6440034-C-A c.610G>T p.G204C Missense 6/10 - 1
12-6440034-C-G c.610G>C p.G204R Missense 6/10 - 1
12-6440039-AC-GG c.604_605delinsCC p.V202P Missense 6/10 - 1
12-6440039-A-T c.605T>A p.V202D Missense 6/10 - 3
12-6440044-C-T c.600G>A p.E200= Synonymous 6/10 - 2
12-6440045-TC-GG c.598_599delinsCC p.E200P Missense 6/10 - 1
12-6440048-A-G c.596T>C p.I199T Missense 6/10 - 4
12-6440048-A-T c.596T>A p.I199N Missense 6/10 - 3
12-6440049-T-C c.595A>G p.I199V Missense 6/10 - 1
12-6440050-C-T c.594G>A p.Q198= Synonymous 6/10 - 1
12-6440055-G-A c.589C>T p.P197S Missense 6/10 - 1
12-6440067-T-G c.577A>C p.K193Q Missense 6/10 - 1
12-6440068-C-A c.576G>T p.T192= Synonymous 6/10 - 2
12-6440068-C-G c.576G>C p.T192= Synonymous 6/10 - 2
12-6440068-C-T c.576G>A p.T192= Synonymous 6/10 - 3
12-6440069-G-A c.575C>T p.T192M Missense 6/10 - 2
12-6440077-C-A c.567G>T p.L189= Synonymous 6/10 - 1
12-6440078-A-G c.566T>C p.L189P Missense 6/10 - 1
12-6440081-CT-C c.562del p.S188Afs*45 Frameshift 6/10 - 1
12-6440092-G-A c.552C>T p.N184= Synonymous 6/10 - 1
12-6441348-C-A c.551+887G>T - IntronicSNV - 5/9 1
12-6441348-C-G c.551+887G>C - IntronicSNV - 5/9 1
12-6441348-C-T c.551+887G>A - IntronicSNV - 5/9 1
12-6441622-C-A c.551+613G>T - IntronicSNV - 5/9 3
12-6441622-C-G c.551+613G>C - IntronicSNV - 5/9 3
12-6441622-C-T c.551+613G>A - IntronicSNV - 5/9 3
12-6441623-A-C c.551+612T>G - IntronicSNV - 5/9 1
12-6441623-A-G c.551+612T>C - IntronicSNV - 5/9 1
12-6442001-T-C c.551+234A>G - IntronicSNV - 5/9 2
12-6442236-T-C c.550A>G p.N184D Missense 5/10 - 1
12-6442237-A-G c.549T>C p.S183= Synonymous 5/10 - 1
12-6442237-A-T c.549T>A p.S183R Missense 5/10 - 1
12-6442238-C-G c.548G>C p.S183T Missense 5/10 - 1
12-6442241-C-G c.545G>C p.C182S Missense 5/10 - 2
12-6442242-A-G c.544T>C p.C182R Missense 5/10 - 1
12-6442242-A-T c.544T>A p.C182S Missense 5/10 - 2
12-6442243-GGA-CTC c.541_543delinsGAG p.S181E Missense 5/10 - 1
12-6442244-G-A c.542C>T p.S181F Missense 5/10 - 2
12-6442244-G-C c.542C>G p.S181C Missense 5/10 - 1
12-6442246-G-A c.540C>T p.V180= Synonymous 5/10 - 1
12-6442246-G-C c.540C>G p.V180= Synonymous 5/10 - 1
12-6442246-G-T c.540C>A p.V180= Synonymous 5/10 - 1
12-6442248-C-T c.538G>A p.V180I Missense 5/10 - 1
12-6442249-A-T c.537T>A p.C179* Nonsense 5/10 - 1
12-6442250-CA-GC c.535_536delinsGC p.C179A Missense 5/10 - 1
12-6442250-C-T c.536G>A p.C179Y Missense 5/10 - 1
12-6442253-T-G c.533A>C p.E178A Missense 5/10 - 1
12-6442254-C-T c.532G>A p.E178K Missense 5/10 - 3
12-6442255-G-A c.531C>T p.N177= Synonymous 5/10 - 2
12-6442257-T-C c.529A>G p.N177D Missense 5/10 - 1
12-6442260-C-A c.526G>T p.E176* Nonsense 5/10 - 2
12-6442261-TCT-ATG c.523_525delinsCAT p.R175H Missense 5/10 - 2
12-6442258-TTC-T c.526_527del p.E176Kfs*7 Frameshift 5/10 - 1
12-6442266-G-C c.520C>G p.L174V Missense 5/10 - 1
12-6442280-T-C c.506A>G p.H169R Missense 5/10 - 1
12-6442281-G-A c.505C>T p.H169Y Missense 5/10 - 1
12-6442287-T-C c.499A>G p.T167A Missense 5/10 - 1
12-6442295-G-A c.491C>T p.T164I Missense 5/10 - 1
12-6442297-G-A c.489C>T p.N163= Synonymous 5/10 - 1
12-6442309-C-A c.477G>T p.Q159H Missense 5/10 - 1
12-6442309-C-G c.477G>C p.Q159H Missense 5/10 - 1
12-6442329-C-T c.473-16G>A - IntronicSNV - 4/9 1
12-6442340-A-G c.473-27T>C - IntronicSNV - 4/9 1
12-6442346-A-G c.473-33T>C - IntronicSNV - 4/9 28
12-6442347-A-G c.473-34T>C - IntronicSNV - 4/9 1
12-6442355-C-T c.473-42G>A - IntronicSNV - 4/9 1
12-6442360-C-G c.473-47G>C - IntronicSNV - 4/9 1
12-6442385-C-A c.473-72G>T - IntronicSNV - 4/9 1
12-6442385-C-T c.473-72G>A - IntronicSNV - 4/9 1
12-6442403-C-A c.473-90G>T - IntronicSNV - 4/9 1
12-6442403-C-T c.473-90G>A - IntronicSNV - 4/9 1
12-6442445-G-A c.472+88C>T - IntronicSNV - 4/9 1
12-6442445-G-T c.472+88C>A - IntronicSNV - 4/9 1
12-6442451-A-C c.472+82T>G - IntronicSNV - 4/9 1
12-6442527-G-A c.472+6C>T - IntronicSNV - 4/9 2
12-6442527-G-T c.472+6C>A - IntronicSNV - 4/9 1
12-6442531-A-G c.472+2T>C - IntronicSNV - 4/9 1
12-6442532-C-T c.472+1G>A - IntronicSNV - 4/9 5
12-6442535-GA-AT c.469_470delinsAT p.S157I Missense 4/10 - 1
12-6442542-G-A c.463C>T p.H155Y Missense 4/10 - 1
12-6442544-A-C c.461T>G p.V154G Missense 4/10 - 1
12-6442545-C-T c.460G>A p.V154M Missense 4/10 - 2
12-6442547-G-A c.458C>T p.T153I Missense 4/10 - 1
12-6442548-T-C c.457A>G p.T153A Missense 4/10 - 1
12-6442549-C-A c.456G>T p.G152= Synonymous 4/10 - 1
12-6442549-C-G c.456G>C p.G152= Synonymous 4/10 - 1
12-6442549-C-T c.456G>A p.G152= Synonymous 4/10 - 1
12-6442553-T-C c.452A>G p.N151S Missense 4/10 - 1
12-6442565-CT-AA c.439_440delinsTT p.S147F Missense 4/10 - 1
12-6442571-T-C c.434A>G p.N145S Missense 4/10 - 4
12-6442573-G-C c.432C>G p.F144L Missense 4/10 - 2
12-6442573-G-T c.432C>A p.F144L Missense 4/10 - 1
12-6442575-A-G c.430T>C p.F144L Missense 4/10 - 1
12-6442576-G-C c.429C>G p.C143W Missense 4/10 - 1
12-6442583-A-C c.422T>G p.F141C Missense 4/10 - 1
12-6442592-T-G c.413A>C p.E138A Missense 4/10 - 1
12-6442602-A-G c.403T>C p.Y135H Missense 4/10 - 1
12-6442604-TGCC-T c.398_400del p.R133del InFrameDeletion 4/10 - 1
12-6442605-GCCGGTA-G c.394_399del p.Y132_R133del InFrameDeletion 4/10 - 2
12-6442607-C-T c.398G>A p.R133Q Missense 4/10 - 5
12-6442608-G-A c.397C>T p.R133W Missense 4/10 - 1
12-6442614-G-C c.391C>G p.Q131E Missense 4/10 - 1
12-6442619-T-C c.386A>G p.K129R Missense 4/10 - 1
12-6442621-CCT-ACA c.382_384delinsTGT p.R128C Missense 4/10 - 1
12-6442621-C-T c.384G>A p.R128= Synonymous 4/10 - 1
12-6442623-T-G c.382A>C p.R128= Synonymous 4/10 - 1
12-6442622-CT-AG c.382_383inv p.R128L Missense 4/10 - 1
12-6442622-CT-TA c.382_383delinsTA p.R128* Nonsense 4/10 - 1
12-6442625-C-A c.380G>T p.C127F Missense 4/10 - 1
12-6442631-C-T c.374G>A p.C125Y Missense 4/10 - 2
12-6442632-A-G c.373T>C p.C125R Missense 4/10 - 1
12-6442633-CAC-GAT c.370_372delinsATC p.V124I Missense 4/10 - 1
12-6442635-C-T c.370G>A p.V124M Missense 4/10 - 9
12-6442637-G-T c.368C>A p.T123N Missense 4/10 - 4
12-6442637-GT-CC c.367_368delinsGG p.T123G Missense 4/10 - 1
12-6442639-G-C c.366C>G p.D122E Missense 4/10 - 1
12-6442640-T-A c.365A>T p.D122V Missense 4/10 - 1
12-6442642-C-CCTGTGTCTTGCA c.362_363insTGCAAGACACAG p.R121_D122insARHR InFrameInsertion 4/10 - 2
12-6442643-C-A c.362G>T p.R121L Missense 4/10 - 2
12-6442643-C-G c.362G>C p.R121P Missense 4/10 - 46
12-6442643-CG-TC c.361_362delinsGA p.R121E Missense 4/10 - 1
12-6442643-C-T c.362G>A p.R121Q Missense 4/10 - 92
12-6442644-G-A c.361C>T p.R121W Missense 4/10 - 1
12-6442646-T-G c.359A>C p.D120A Missense 4/10 - 2
12-6442655-C-T c.350G>A p.C117Y Missense 4/10 - 4
12-6442656-A-C c.349T>G p.C117G Missense 4/10 - 1
12-6442656-A-G c.349T>C p.C117R Missense 4/10 - 5
12-6442658-AGAAGAGATC-A c.339_347del p.E113_S116delinsD MultiAAMissense 4/10 - 1
12-6442661-GA-CC c.343_344delinsGG p.S115G Missense 4/10 - 1
12-6442663-G-C c.342C>G p.I114M Missense 4/10 - 1
12-6442671-C-T c.334G>A p.V112M Missense 4/10 - 4
12-6442674-G-C c.331C>G p.Q111E Missense 4/10 - 2
12-6442675-A-AC c.329dup p.Q111Sfs*28 Frameshift 4/10 - 1
12-6442678-C-T c.327G>A p.M109I Missense 4/10 - 1
12-6442680-T-C c.325A>G p.M109V Missense 4/10 - 1
12-6442845-G-A c.322+58C>T - IntronicSNV - 3/9 1
12-6442908-C-T c.317G>A p.R106Q Missense 3/10 - 3
12-6442907-T-A c.318A>T p.R106= Synonymous 3/10 - 1
12-6442907-T-C c.318A>G p.R106= Synonymous 3/10 - 1
12-6442907-T-G c.318A>C p.R106= Synonymous 3/10 - 1
12-6442909-G-T c.316C>A p.R106= Synonymous 3/10 - 1
12-6442911-C-A c.314G>T p.C105F Missense 3/10 - 1
12-6442915-T-C c.310A>G p.K104E Missense 3/10 - 1
12-6442919-G-C c.306C>G p.C102W Missense 3/10 - 2
12-6442920-C-G c.305G>C p.C102S Missense 3/10 - 2
12-6442920-C-T c.305G>A p.C102Y Missense 3/10 - 2
12-6442921-A-G c.304T>C p.C102R Missense 3/10 - 1
12-6442921-A-T c.304T>A p.C102S Missense 3/10 - 1
12-6442925-G-A c.300C>T p.L100= Synonymous 3/10 - 2
12-6442925-G-C c.300C>G p.L100= Synonymous 3/10 - 2
12-6442925-G-T c.300C>A p.L100= Synonymous 3/10 - 1
12-6442929-C-A c.296G>T p.C99F Missense 3/10 - 1
12-6442929-CA-AC c.295_296delinsGT p.C99V Missense 3/10 - 1
12-6442929-C-G c.296G>C p.C99S Missense 3/10 - 4
12-6442930-A-G c.295T>C p.C99R Missense 3/10 - 4
12-6442930-A-T c.295T>A p.C99S Missense 3/10 - 4
12-6442930-CAGT-C c.293_295del p.H98_C99delinsR MultiAAMissense 3/10 - 1
12-6442934-TCT-ATG c.289_291delinsCAT p.R97H Missense 3/10 - 1
12-6442935-CT-AG c.289_290inv p.R97L Missense 3/10 - 1
12-6442935-CT-GC c.289_290delinsGC p.R97A Missense 3/10 - 1
12-6442935-CT-GG c.289_290delinsCC p.R97P Missense 3/10 - 1
12-6442937-G-A c.288C>T p.L96= Synonymous 3/10 - 1
12-6442938-A-G c.287T>C p.L96P Missense 3/10 - 4
12-6442941-T-A c.284A>T p.H95L Missense 3/10 - 1
12-6442941-T-G c.284A>C p.H95P Missense 3/10 - 1
12-6442943-G-C c.282C>G p.N94K Missense 3/10 - 2
12-6442943-G-T c.282C>A p.N94K Missense 3/10 - 1
12-6442944-T-A c.281A>T p.N94I Missense 3/10 - 1
12-6442944-TTTTCTGAAGCGGTGAAGGAGCCGC-T c.257_280del p.S86_E93del InFrameDeletion 3/10 - 1
12-6442952-AG-CT c.272_273inv p.A91E Missense 3/10 - 1
12-6442954-C-T c.271G>A p.A91T Missense 3/10 - 1
12-6442955-G-A c.270C>T p.T90= Synonymous 3/10 - 2
12-6442956-G-A c.269C>T p.T90I Missense 3/10 - 7
12-6442956-G-C c.269C>G p.T90S Missense 3/10 - 1
12-6442956-G-T c.269C>A p.T90N Missense 3/10 - 4
12-6442957-T-A c.268A>T p.T90S Missense 3/10 - 1
12-6442957-T-G c.268A>C p.T90P Missense 3/10 - 1
12-6442959-AA-GC c.265_266delinsGC p.F89A Missense 3/10 - 1
12-6442958-G-C c.267C>G p.F89L Missense 3/10 - 3
12-6442958-G-T c.267C>A p.F89L Missense 3/10 - 3
12-6442960-A-G c.265T>C p.F89L Missense 3/10 - 5
12-6442962-G-A c.263C>T p.S88F Missense 3/10 - 1
12-6442963-A-G c.262T>C p.S88P Missense 3/10 - 3
12-6442965-C-A c.260G>T p.G87V Missense 3/10 - 3
12-6442966-C-T c.259G>A p.G87S Missense 3/10 - 1
12-6442968-C-G c.257G>C p.S86T Missense 3/10 - 5
12-6442968-CT-GG c.256_257delinsCC p.S86P Missense 3/10 - 5
12-6442970-C-A c.255G>T p.E85D Missense 3/10 - 1
12-6442970-C-G c.255G>C p.E85D Missense 3/10 - 1
12-6442971-TCACACTCC-T c.246_253del p.C84Rfs*52 Frameshift 3/10 - 1
12-6442974-CA-GC c.250_251delinsGC p.C84A Missense 3/10 - 2
12-6442974-C-T c.251G>A p.C84Y Missense 3/10 - 4
12-6442975-A-G c.250T>C p.C84R Missense 3/10 - 2
12-6442981-T-C c.244A>G p.R82G Missense 3/10 - 1
12-6442982-G-C c.243C>G p.C81W Missense 3/10 - 1
12-6442983-C-A c.242G>T p.C81F Missense 3/10 - 6
12-6442983-C-T c.242G>A p.C81Y Missense 3/10 - 7
12-6442984-A-C c.241T>G p.C81G Missense 3/10 - 1
12-6442986-TC-AA c.238_239delinsTT p.D80F Missense 3/10 - 1
12-6442989-G-A c.236C>T p.T79M Missense 3/10 - 20
12-6442989-G-T c.236C>A p.T79K Missense 3/10 - 2
12-6442997-CCC-GCT c.226_228delinsAGC p.G76S Missense 3/10 - 1
12-6442998-C-G c.227G>C p.G76A Missense 3/10 - 1
12-6442996-G-GC c.228dup p.Q77Afs*9 Frameshift 3/10 - 1
12-6443001-G-A c.224C>T p.P75L Missense 3/10 - 23
12-6443001-G-C c.224C>G p.P75R Missense 3/10 - 5
12-6443008-G-A c.217C>T p.P73S Missense 3/10 - 5
12-6443008-G-C c.217C>G p.P73A Missense 3/10 - 1
12-6443010-CA-TT c.214_215delinsAA p.C72N Missense 3/10 - 1
12-6443010-C-T c.215G>A p.C72Y Missense 3/10 - 4
12-6443010-C-G c.215G>C p.C72S Missense 3/10 - 1
12-6443011-A-G c.214T>C p.C72R Missense 3/10 - 3
12-6443011-A-T c.214T>A p.C72S Missense 3/10 - 1
12-6443012-AGTC-A c.211_213del p.D71del InFrameDeletion 3/10 - 3
12-6443012-G-A c.213C>T p.D71= Synonymous 3/10 - 2
12-6443013-T-C c.212A>G p.D71G Missense 3/10 - 2
12-6443013-TC-CT c.211_212delinsAG p.D71S Missense 3/10 - 1
12-6443015-ATT-TTA c.208_210delinsTAA p.N70* Nonsense 3/10 - 1
12-6443018-G-C c.207C>G p.Y69* Nonsense 3/10 - 1
12-6443021-C-A c.204G>T p.L68F Missense 3/10 - 1
12-6443021-C-G c.204G>C p.L68F Missense 3/10 - 3
12-6443022-AA-TC c.202_203delinsGA p.L68E Missense 3/10 - 1
12-6443023-A-AC c.201_202insG p.L68Vfs*4 Frameshift 3/10 - 1
12-6443023-A-C c.202T>G p.L68V Missense 3/10 - 1
12-6443025-T-G c.200A>C p.Y67S Missense 3/10 - 1
12-6443028-G-A c.197C>T p.T66I Missense 3/10 - 1
12-6443196-AAGC-A c.193+58_193+60del - IntronicDeletion - 2/9 1
12-6443255-A-G c.193+2T>C - IntronicSNV - 2/9 1
12-6443257-C-T c.193G>A p.G65R Missense 2/10 - 1
12-6443263-G-C c.187C>G p.H63D Missense 2/10 - 1
12-6443265-CA-GC c.184_185delinsGC p.C62A Missense 2/10 - 1
12-6443265-C-T c.185G>A p.C62Y Missense 2/10 - 8
12-6443266-A-C c.184T>G p.C62G Missense 2/10 - 5
12-6443266-A-G c.184T>C p.C62R Missense 2/10 - 1
12-6443267-C-A c.183G>T p.K61N Missense 2/10 - 1
12-6443267-C-G c.183G>C p.K61N Missense 2/10 - 1
12-6443267-C-T c.183G>A p.K61= Synonymous 2/10 - 2
12-6443271-G-T c.179C>A p.T60N Missense 2/10 - 1
12-6443274-C-A c.176G>T p.C59F Missense 2/10 - 1
12-6443274-C-T c.176G>A p.C59Y Missense 2/10 - 3
12-6443274-C-G c.176G>C p.C59S Missense 2/10 - 2
12-6443275-A-G c.175T>C p.C59R Missense 2/10 - 9
12-6443275-A-T c.175T>A p.C59S Missense 2/10 - 2
12-6443277-C-A c.173G>T p.C58F Missense 2/10 - 2
12-6443277-CA-GC c.172_173delinsGC p.C58A Missense 2/10 - 1
12-6443277-C-T c.173G>A p.C58Y Missense 2/10 - 1
12-6443278-A-G c.172T>C p.C58R Missense 2/10 - 1
12-6443279-A-G c.171T>C p.I57= Synonymous 2/10 - 1
12-6443279-A-T c.171T>A p.I57= Synonymous 2/10 - 1
12-6443282-C-T c.168G>A p.S56= Synonymous 2/10 - 1
12-6443283-G-A c.167C>T p.S56L Missense 2/10 - 16
12-6443283-GA-CC c.166_167delinsGG p.S56G Missense 2/10 - 1
12-6443290-T-C c.160A>G p.N54D Missense 2/10 - 2
12-6443293-G-A c.157C>T p.Q53* Nonsense 2/10 - 1
12-6443295-G-A c.155C>T p.P52L Missense 2/10 - 1
12-6443297-G-C c.153C>G p.H51Q Missense 2/10 - 2
12-6443297-G-T c.153C>A p.H51Q Missense 2/10 - 2
12-6443298-T-C c.152A>G p.H51R Missense 2/10 - 1
12-6443299-G-A c.151C>T p.H51Y Missense 2/10 - 1
12-6443303-A-G c.147T>C p.Y49= Synonymous 2/10 - 1
12-6443304-T-C c.146A>G p.Y49C Missense 2/10 - 1
12-6443305-A-G c.145T>C p.Y49H Missense 2/10 - 1
12-6443307-T-A c.143A>T p.K48I Missense 2/10 - 1
12-6443307-T-C c.143A>G p.K48R Missense 2/10 - 14
12-6443310-C-G c.140G>C p.G47A Missense 2/10 - 1
12-6443311-C-G c.139G>C p.G47R Missense 2/10 - 1
12-6443311-C-T c.139G>A p.G47R Missense 2/10 - 1
12-6443314-G-A c.136C>T p.Q46* Nonsense 2/10 - 1
12-6443315-G-A c.135C>T p.P45= Synonymous 2/10 - 1
12-6443316-G-A c.134C>T p.P45L Missense 2/10 - 1
12-6443319-C-G c.131G>C p.C44S Missense 2/10 - 1
12-6443320-A-G c.130T>C p.C44R Missense 2/10 - 1
12-6443320-A-T c.130T>A p.C44S Missense 2/10 - 1
12-6443321-CAC-GAT c.127_129delinsATC p.V43I Missense 2/10 - 1
12-6443324-A-G c.126T>C p.S42= Synonymous 2/10 - 1
12-6443325-CT-GC c.124_125delinsGC p.S42A Missense 2/10 - 1
12-6443326-T-A c.124A>T p.S42C Missense 2/10 - 1
12-6443327-A-C c.123T>G p.D41E Missense 2/10 - 14
12-6443327-A-G c.123T>C p.D41= Synonymous 2/10 - 1
12-6443327-A-T c.123T>A p.D41E Missense 2/10 - 5
12-6443329-C-G c.121G>C p.D41H Missense 2/10 - 1
12-6443331-C-T c.119G>A p.R40K Missense 2/10 - 1
12-6443331-CT-GG c.118_119delinsCC p.R40P Missense 2/10 - 1
12-6443334-T-C c.116A>G p.K39R Missense 2/10 - 1
12-6443336-C-T c.114G>A p.E38= Synonymous 2/10 - 1
12-6443339-C-T c.111G>A p.R37= Synonymous 2/10 - 1
12-6443340-C-T c.110G>A p.R37K Missense 2/10 - 1
12-6443343-T-G c.107A>C p.D36A Missense 2/10 - 2
12-6443344-C-T c.106G>A p.D36N Missense 2/10 - 1
12-6443347-C-G c.103G>C p.G35R Missense 2/10 - 1
12-6443347-C-T c.103G>A p.G35R Missense 2/10 - 1
12-6443350-G-C c.100C>G p.L34V Missense 2/10 - 2
12-6443351-G-A c.99C>T p.H33= Synonymous 2/10 - 1
12-6443355-G-T c.95C>A p.P32H Missense 2/10 - 2
12-6443357-G-A c.93C>T p.V31= Synonymous 2/10 - 1
12-6443357-G-C c.93C>G p.V31= Synonymous 2/10 - 1
12-6443357-G-T c.93C>A p.V31= Synonymous 2/10 - 1
12-6443358-A-C c.92T>G p.V31G Missense 2/10 - 1
12-6443359-C-T c.91G>A p.V31I Missense 2/10 - 1
12-6443363-TC-GT c.86_87delinsAC p.G29D Missense 2/10 - 1
12-6443364-C-G c.86G>C p.G29A Missense 2/10 - 1
12-6443367-A-T c.83T>A p.I28N Missense 2/10 - 1
12-6443368-T-A c.82A>T p.I28F Missense 2/10 - 1
12-6443371-C-G c.79G>C p.V27L Missense 2/10 - 1
12-6443370-AC-A c.79del p.V27Lfs*8 Frameshift 2/10 - 3
12-6443375-TGA-GTT c.73_75delinsAAC p.S25N Missense 2/10 - 2
12-6443375-T-TC c.74_75insG p.G26Rfs*17 Frameshift 2/10 - 1
12-6443376-G-A c.74C>T p.S25L Missense 2/10 - 8
12-6443376-G-C c.74C>G p.S25* Nonsense 2/10 - 2
12-6443376-G-T c.74C>A p.S25* Nonsense 2/10 - 2
12-6443377-A-C c.73T>G p.S25A Missense 2/10 - 1
12-6443378-GGG-CCA c.70_72delinsTGG p.P24W Missense 2/10 - 1
12-6443382-TA-GC c.67_68delinsGC p.Y23A Missense 2/10 - 1
12-6443382-T-C c.68A>G p.Y23C Missense 2/10 - 4
12-6443385-A-G c.65T>C p.I22T Missense 2/10 - 1
12-6443388-C-G c.62G>C p.G21A Missense 2/10 - 1
12-6443391-AC-CT c.58_59delinsAG p.V20R Missense 2/10 - 1
12-6443391-A-G c.59T>C p.V20A Missense 2/10 - 1
12-6443400-T-C c.50A>G p.E17G Missense 2/10 - 1
12-6443401-C-T c.49G>A p.E17K Missense 2/10 - 5
12-6443402-C-A c.48G>T p.L16= Synonymous 2/10 - 1
12-6443402-C-G c.48G>C p.L16= Synonymous 2/10 - 1
12-6443402-C-T c.48G>A p.L16= Synonymous 2/10 - 1
12-6443403-A-G c.47T>C p.L16P Missense 2/10 - 2
12-6443404-G-A c.46C>T p.L16= Synonymous 2/10 - 2
12-6443410-C-A c.40G>T p.V14L Missense 2/10 - 1
12-6443410-C-G c.40G>C p.V14L Missense 2/10 - 1
12-6445329-G-C c.40-1919C>G - IntronicSNV - 1/9 3
12-6445982-A-C c.40-2572T>G - IntronicSNV - 1/9 5
12-6445982-A-G c.40-2572T>C - IntronicSNV - 1/9 5
12-6445982-A-T c.40-2572T>A - IntronicSNV - 1/9 5
12-6446777-G-A c.40-3367C>T - IntronicSNV - 1/9 14
12-6446985-T-A c.40-3575A>T - IntronicSNV - 1/9 4
12-6446985-T-C c.40-3575A>G - IntronicSNV - 1/9 4
12-6446990-G-A c.40-3580C>T - IntronicSNV - 1/9 3
12-6447357-C-T c.39+3585G>A - IntronicSNV - 1/9 4
12-6447437-C-G c.39+3505G>C - IntronicSNV - 1/9 6
12-6447437-C-T c.39+3505G>A - IntronicSNV - 1/9 6
12-6447522-G-A c.39+3420C>T - IntronicSNV - 1/9 23
12-6447522-G-T c.39+3420C>A - IntronicSNV - 1/9 23
12-6449115-C-T c.39+1827G>A - IntronicSNV - 1/9 14
12-6449210-G-T c.39+1732C>A - IntronicSNV - 1/9 2
12-6449384-C-G c.39+1558G>C - IntronicSNV - 1/9 3
12-6449743-C-A c.39+1199G>T - IntronicSNV - 1/9 1
12-6450578-A-G c.39+364T>C - IntronicSNV - 1/9 1
12-6450868-T-C c.39+74A>G - IntronicSNV - 1/9 1
12-6450943-AG-GC c.37_38delinsGC p.L13A Missense 1/10 - 4
12-6450945-T-A c.36A>T p.P12= Synonymous 1/10 - 2
12-6450945-T-C c.36A>G p.P12= Synonymous 1/10 - 80
12-6450945-T-G c.36A>C p.P12= Synonymous 1/10 - 2
12-6450945-TGG-GTT c.34_36delinsAAC p.P12N Missense 1/10 - 1
12-6450946-G-A c.35C>T p.P12L Missense 1/10 - 1
12-6450947-G-A c.34C>T p.P12S Missense 1/10 - 1
12-6450947-G-C c.34C>G p.P12A Missense 1/10 - 4
12-6450948-CAG-AAA c.31_33delinsTTT p.L11F Missense 1/10 - 1
12-6450949-A-C c.32T>G p.L11R Missense 1/10 - 1
12-6450952-A-G c.29T>C p.L10P Missense 1/10 - 1
12-6450946-GGCA-G c.32_34del p.L11del InFrameDeletion 1/10 - 1
12-6450954-C-A c.27G>T p.L9= Synonymous 1/10 - 1
12-6450957-GTC-CTT c.22_24delinsAAG p.D8K Missense 1/10 - 1
12-6450957-GTC-TTA c.22_24delinsTAA p.D8* Nonsense 1/10 - 7
12-6450960-A-C c.21T>G p.P7= Synonymous 1/10 - 1
12-6450960-A-G c.21T>C p.P7= Synonymous 1/10 - 1
12-6450960-A-T c.21T>A p.P7= Synonymous 1/10 - 1
12-6450970-G-A c.11C>T p.S4F Missense 1/10 - 1
12-6450980-T-C c.1A>G p.M1? Missense 1/10 - 1
12-6451054-C-T c.-74G>A - 5-UTRSNV 1/10 - 1