ABCB4

ABCB4 ATP binding cassette subfamily B member 4

Annotation transcript: NM_000443.4

1758 unique variant annotations were identified in 831 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
7-87031414-A-G c.3838T>C p.*1280Rext*19 Missense 28/28 - 3
7-87031414-A-T c.3838T>A p.*1280Rext*19 Missense 28/28 - 2
7-87031418-G-C c.3834C>G p.N1278K Missense 28/28 - 2
7-87031421-C-T c.3831G>A p.Q1277= Synonymous 28/28 - 1
7-87031422-T-C c.3830A>G p.Q1277R Missense 28/28 - 2
7-87031429-C-T c.3823G>A p.G1275R Missense 28/28 - 1
7-87031439-A-C c.3813T>G p.S1271R Missense 28/28 - 1
7-87031439-A-T c.3813T>A p.S1271R Missense 28/28 - 1
7-87031441-T-G c.3811A>C p.S1271R Missense 28/28 - 1
7-87031442-G-A c.3810C>T p.V1270= Synonymous 28/28 - 1
7-87031457-G-T c.3795C>A p.I1265= Synonymous 28/28 - 1
7-87031462-CT-C c.3789del p.G1264Afs*38 Frameshift 28/28 - 1
7-87031478-C-G c.3774G>C p.Q1258H Missense 28/28 - 1
7-87031478-C-T c.3774G>A p.Q1258= Synonymous 28/28 - 1
7-87031482-CT-C c.3770del p.Q1257Rfs*45 Frameshift 28/28 - 1
7-87031487-C-A c.3765G>T p.T1255= Synonymous 28/28 - 1
7-87031487-C-T c.3765G>A p.T1255= Synonymous 28/28 - 1
7-87031488-G-A c.3764C>T p.T1255M Missense 28/28 - 1
7-87031492-C-T c.3760G>A p.G1254S Missense 28/28 - 1
7-87031495-G-A c.3757C>T p.H1253Y Missense 28/28 - 2
7-87031497-T-G c.3755A>C p.E1252A Missense 28/28 - 1
7-87031498-C-G c.3754G>C p.E1252Q Missense 28/28 - 1
7-87031499-C-T c.3753G>A p.K1251= Synonymous 28/28 - 1
7-87031503-A-G c.3749T>C p.V1250A Missense 28/28 - 2
7-87031504-C-A c.3748G>T p.V1250F Missense 28/28 - 1
7-87031506-C-G c.3746G>C p.R1249T Missense 28/28 - 1
7-87031525-C-G c.3727G>C p.V1243L Missense 28/28 - 1
7-87031527-A-AT c.3724dup p.I1242Nfs*47 Frameshift 28/28 - 1
7-87031534-C-T c.3718G>A p.D1240N Missense 28/28 - 1
7-87031556-G-A c.3696C>T p.R1232= Synonymous 28/28 - 1
7-87031557-C-T c.3695G>A p.R1232H Missense 28/28 - 1
7-87031558-G-A c.3694C>T p.R1232C Missense 28/28 - 1
7-87031558-G-C c.3694C>G p.R1232G Missense 28/28 - 1
7-87031561-G-A c.3691C>T p.H1231Y Missense 28/28 - 2
7-87031565-CAAT-C c.3685_3687del p.I1229del InFrameDeletion 28/28 - 1
7-87031572-A-G c.3680T>C p.I1227T Missense 28/28 - 2
7-87031576-A-C c.3676T>G p.C1226G Missense 28/28 - 1
7-87031581-C-T c.3671G>A p.R1224H Missense 28/28 - 2
7-87031582-G-A c.3670C>T p.R1224C Missense 28/28 - 4
7-87031585-C-T c.3667G>A p.G1223S Missense 28/28 - 1
7-87031589-T-C c.3663A>G p.R1221= Synonymous 28/28 - 1
7-87031599-GT-G c.3653del p.D1218Afs*11 Frameshift 28/28 - 1
7-87031609-C-T c.3643G>A p.E1215K Missense 28/28 - 5
7-87031617-A-G c.3635T>C p.V1212A Missense 28/28 - 1
7-87031809-A-G c.3634-191T>C - IntronicSNV - 27/27 3
7-87032450-C-A c.3633+1G>T - IntronicSNV - 27/27 1
7-87032451-C-A c.3633G>T p.K1211N Missense 27/28 - 1
7-87032451-C-G c.3633G>C p.K1211N Missense 27/28 - 1
7-87032453-T-C c.3631A>G p.K1211E Missense 27/28 - 1
7-87032464-G-A c.3620C>T p.T1207I Missense 27/28 - 1
7-87032467-T-C c.3617A>G p.D1206G Missense 27/28 - 1
7-87032469-C-A c.3615G>T p.L1205= Synonymous 27/28 - 1
7-87032469-C-G c.3615G>C p.L1205= Synonymous 27/28 - 1
7-87032469-C-T c.3615G>A p.L1205= Synonymous 27/28 - 2
7-87032471-G-A c.3613C>T p.L1205= Synonymous 27/28 - 1
7-87032472-A-C c.3612T>G p.A1204= Synonymous 27/28 - 1
7-87032474-C-G c.3610G>C p.A1204P Missense 27/28 - 1
7-87032476-G-C c.3608C>G p.S1203* Nonsense 27/28 - 1
7-87032476-G-T c.3608C>A p.S1203* Nonsense 27/28 - 1
7-87032483-C-T c.3601G>A p.A1201T Missense 27/28 - 1
7-87032485-T-G c.3599A>C p.E1200A Missense 27/28 - 1
7-87032486-C-G c.3598G>C p.E1200Q Missense 27/28 - 1
7-87032491-AA-CT c.3592_3593delinsAG p.L1198R Missense 27/28 - 1
7-87032490-C-T c.3594G>A p.L1198= Synonymous 27/28 - 1
7-87032492-A-G c.3592T>C p.L1198= Synonymous 27/28 - 1
7-87032494-AG-A c.3589del p.L1197Cfs*32 Frameshift 27/28 - 1
7-87032501-TTTGAGGTTGTCTGATGAGGGC-T c.3562_3582del p.A1188_Q1194del InFrameDeletion 27/28 - 1
7-87032503-T-C c.3581A>G p.Q1194R Missense 27/28 - 1
7-87032504-G-A c.3580C>T p.Q1194* Nonsense 27/28 - 4
7-87032525-G-A c.3559C>T p.R1187* Nonsense 27/28 - 1
7-87032526-G-A c.3558C>T p.A1186= Synonymous 27/28 - 1
7-87032526-G-C c.3558C>G p.A1186= Synonymous 27/28 - 1
7-87032526-G-T c.3558C>A p.A1186= Synonymous 27/28 - 1
7-87032528-C-T c.3556G>A p.A1186T Missense 27/28 - 1
7-87032531-T-C c.3553A>G p.I1185V Missense 27/28 - 5
7-87032534-C-T c.3550G>A p.A1184T Missense 27/28 - 1
7-87032541-C-G c.3543G>C p.Q1181H Missense 27/28 - 2
7-87032541-C-T c.3543G>A p.Q1181= Synonymous 27/28 - 1
7-87032542-T-A c.3542A>T p.Q1181L Missense 27/28 - 1
7-87032543-G-C c.3541C>G p.Q1181E Missense 27/28 - 2
7-87032549-G-A c.3535C>T p.Q1179* Nonsense 27/28 - 3
7-87032549-G-C c.3535C>G p.Q1179E Missense 27/28 - 1
7-87032555-C-G c.3529G>C p.G1177R Missense 27/28 - 1
7-87032563-T-A c.3521A>T p.Q1174L Missense 27/28 - 1
7-87032563-T-C c.3521A>G p.Q1174R Missense 27/28 - 2
7-87032563-T-G c.3521A>C p.Q1174P Missense 27/28 - 1
7-87032564-G-C c.3520C>G p.Q1174E Missense 27/28 - 2
7-87032570-C-T c.3514G>A p.G1172R Missense 27/28 - 5
7-87032572-CTT-C c.3511_3512del p.K1171Gfs*29 Frameshift 27/28 - 1
7-87032576-C-T c.3508G>A p.D1170N Missense 27/28 - 1
7-87032586-TG-CA c.3497_3498inv p.T1166M Missense 27/28 - 1
7-87032590-T-C c.3494A>G p.E1165G Missense 27/28 - 1
7-87032591-C-T c.3493G>A p.E1165K Missense 27/28 - 2
7-87032595-T-G c.3489A>C p.K1163N Missense 27/28 - 1
7-87032613-A-C c.3487-16T>G - IntronicSNV - 26/27 12
7-87032613-A-G c.3487-16T>C - IntronicSNV - 26/27 12
7-87032613-A-T c.3487-16T>A - IntronicSNV - 26/27 12
7-87033561-C-T c.3487-964G>A - IntronicSNV - 26/27 3
7-87035598-A-G c.3486+6T>C - IntronicSNV - 26/27 1
7-87035599-C-T c.3486+5G>A - IntronicSNV - 26/27 1
7-87035603-C-T c.3486+1G>A - IntronicSNV - 26/27 2
7-87035606-G-C c.3484C>G p.H1162D Missense 26/28 - 1
7-87035607-G-T c.3483C>A p.P1161= Synonymous 26/28 - 1
7-87035609-G-A c.3481C>T p.P1161S Missense 26/28 - 7
7-87035609-G-T c.3481C>A p.P1161T Missense 26/28 - 3
7-87035614-G-A c.3476C>T p.T1159M Missense 26/28 - 3
7-87035618-C-T c.3472G>A p.E1158K Missense 26/28 - 3
7-87035619-G-A c.3471C>T p.I1157= Synonymous 26/28 - 2
7-87035619-G-T c.3471C>A p.I1157= Synonymous 26/28 - 1
7-87035639-C-T c.3451G>A p.A1151T Missense 26/28 - 3
7-87035642-C-G c.3448G>C p.A1150P Missense 26/28 - 1
7-87035642-C-T c.3448G>A p.A1150T Missense 26/28 - 2
7-87035647-G-A c.3443C>T p.A1148V Missense 26/28 - 1
7-87035648-C-G c.3442G>C p.A1148P Missense 26/28 - 1
7-87035650-G-A c.3440C>T p.A1147V Missense 26/28 - 1
7-87035651-C-T c.3439G>A p.A1147T Missense 26/28 - 1
7-87035655-C-A c.3435G>T p.V1145= Synonymous 26/28 - 1
7-87035655-C-G c.3435G>C p.V1145= Synonymous 26/28 - 1
7-87035655-C-T c.3435G>A p.V1145= Synonymous 26/28 - 1
7-87035655-C-CA c.3434dup p.S1146Efs*20 Frameshift 26/28 - 1
7-87035659-A-G c.3431T>C p.I1144T Missense 26/28 - 2
7-87035666-C-G c.3424G>C p.D1142H Missense 26/28 - 1
7-87035667-C-T c.3423G>A p.Q1141= Synonymous 26/28 - 2
7-87035680-C-T c.3410G>A p.R1137Q Missense 26/28 - 1
7-87035679-C-A c.3411G>T p.R1137= Synonymous 26/28 - 1
7-87035679-C-G c.3411G>C p.R1137= Synonymous 26/28 - 1
7-87035679-C-T c.3411G>A p.R1137= Synonymous 26/28 - 1
7-87035681-G-T c.3409C>A p.R1137= Synonymous 26/28 - 1
7-87035685-G-C c.3405C>G p.N1135K Missense 26/28 - 1
7-87035692-C-T c.3398G>A p.G1133E Missense 26/28 - 2
7-87035693-C-T c.3397G>A p.G1133R Missense 26/28 - 1
7-87035695-T-C c.3395A>G p.Y1132C Missense 26/28 - 1
7-87035713-A-G c.3377T>C p.I1126T Missense 26/28 - 2
7-87035716-C-T c.3374G>A p.S1125N Missense 26/28 - 1
7-87035717-T-C c.3373A>G p.S1125G Missense 26/28 - 1
7-87035717-T-G c.3373A>C p.S1125R Missense 26/28 - 1
7-87035718-G-A c.3372C>T p.C1124= Synonymous 26/28 - 1
7-87035719-C-T c.3371G>A p.C1124Y Missense 26/28 - 1
7-87035723-C-T c.3367G>A p.D1123N Missense 26/28 - 1
7-87035737-T-C c.3353A>G p.E1118G Missense 26/28 - 1
7-87035738-C-T c.3352G>A p.E1118K Missense 26/28 - 2
7-87035741-G-A c.3349C>T p.Q1117* Nonsense 26/28 - 1
7-87035747-C-G c.3343G>C p.V1115L Missense 26/28 - 1
7-87035747-C-T c.3343G>A p.V1115M Missense 26/28 - 2
7-87035748-G-A c.3342C>T p.I1114= Synonymous 26/28 - 1
7-87035748-G-T c.3342C>A p.I1114= Synonymous 26/28 - 1
7-87035753-C-T c.3337G>A p.G1113R Missense 26/28 - 1
7-87035754-G-C c.3336C>G p.L1112= Synonymous 26/28 - 1
7-87035755-A-G c.3335T>C p.L1112P Missense 26/28 - 2
7-87035760-A-C c.3330T>G p.A1110= Synonymous 26/28 - 1
7-87035760-A-G c.3330T>C p.A1110= Synonymous 26/28 - 2
7-87035760-A-T c.3330T>A p.A1110= Synonymous 26/28 - 1
7-87035761-G-A c.3329C>T p.A1110V Missense 26/28 - 1
7-87035763-TCT-CCA c.3325_3327delinsTGG p.R1109W Missense 26/28 - 1
7-87035772-C-A c.3318G>T p.Q1106H Missense 26/28 - 1
7-87035772-C-G c.3318G>C p.Q1106H Missense 26/28 - 2
7-87035773-T-C c.3317A>G p.Q1106R Missense 26/28 - 3
7-87035791-G-A c.3299C>T p.A1100V Missense 26/28 - 1
7-87035792-C-T c.3298G>A p.A1100T Missense 26/28 - 4
7-87035794-T-C c.3296A>G p.E1099G Missense 26/28 - 4
7-87035804-C-T c.3286G>A p.D1096N Missense 26/28 - 2
7-87035805-G-A c.3285C>T p.L1095= Synonymous 26/28 - 1
7-87035807-G-A c.3283C>T p.L1095F Missense 26/28 - 1
7-87035833-T-C c.3280-23A>G - IntronicSNV - 25/27 1
7-87036942-G-T c.3279+411C>A - IntronicSNV - 25/27 1
7-87037357-G-A c.3275C>T p.T1092I Missense 25/28 - 1
7-87037358-T-C c.3274A>G p.T1092A Missense 25/28 - 1
7-87037361-C-T c.3271G>A p.G1091R Missense 25/28 - 3
7-87037363-G-A c.3269C>T p.A1090V Missense 25/28 - 3
7-87037365-C-A c.3267G>T p.L1089F Missense 25/28 - 1
7-87037369-G-A c.3263C>T p.P1088L Missense 25/28 - 1
7-87037370-G-T c.3262C>A p.P1088T Missense 25/28 - 4
7-87037373-C-T c.3259G>A p.D1087N Missense 25/28 - 4
7-87037374-G-A c.3258C>T p.Y1086= Synonymous 25/28 - 2
7-87037374-G-T c.3258C>A p.Y1086* Nonsense 25/28 - 2
7-87037375-T-G c.3257A>C p.Y1086S Missense 25/28 - 1
7-87037381-C-T c.3251G>A p.R1084Q Missense 25/28 - 2
7-87037382-G-A c.3250C>T p.R1084W Missense 25/28 - 2
7-87037387-A-T c.3245T>A p.L1082Q Missense 25/28 - 3
7-87037390-A-C c.3242T>G p.L1081R Missense 25/28 - 1
7-87037396-A-G c.3236T>C p.V1079A Missense 25/28 - 1
7-87037401-C-T c.3231G>A p.T1077= Synonymous 25/28 - 1
7-87037402-G-A c.3230C>T p.T1077M Missense 25/28 - 2
7-87037405-C-T c.3227G>A p.S1076N Missense 25/28 - 1
7-87037406-T-A c.3226A>T p.S1076C Missense 25/28 - 2
7-87037408-T-A c.3224A>T p.K1075M Missense 25/28 - 3
7-87037411-C-T c.3221G>A p.G1074E Missense 25/28 - 1
7-87037412-C-T c.3220G>A p.G1074R Missense 25/28 - 1
7-87037414-C-T c.3218G>A p.C1073Y Missense 25/28 - 1
7-87037415-A-G c.3217T>C p.C1073R Missense 25/28 - 1
7-87037417-C-T c.3215G>A p.G1072D Missense 25/28 - 1
7-87037420-CT-AA c.3211_3212delinsTT p.S1071F Missense 25/28 - 1
7-87037423-C-T c.3209G>A p.S1070N Missense 25/28 - 2
7-87037426-C-G c.3206G>C p.G1069A Missense 25/28 - 1
7-87037430-C-T c.3202G>A p.V1068M Missense 25/28 - 1
7-87037431-C-A c.3201G>T p.L1067= Synonymous 25/28 - 1
7-87037431-C-G c.3201G>C p.L1067= Synonymous 25/28 - 1
7-87037431-C-T c.3201G>A p.L1067= Synonymous 25/28 - 1
7-87037433-G-A c.3199C>T p.L1067= Synonymous 25/28 - 1
7-87037443-C-A c.3189G>T p.Q1063H Missense 25/28 - 1
7-87037443-C-G c.3189G>C p.Q1063H Missense 25/28 - 1
7-87037453-T-C c.3179A>G p.K1060R Missense 25/28 - 1
7-87037453-T-G c.3179A>C p.K1060T Missense 25/28 - 4
7-87037456-A-G c.3176T>C p.V1059A Missense 25/28 - 1
7-87037460-C-G c.3172G>C p.E1058Q Missense 25/28 - 5
7-87037460-C-T c.3172G>A p.E1058K Missense 25/28 - 2
7-87037462-A-C c.3170T>G p.L1057R Missense 25/28 - 1
7-87037462-A-G c.3170T>C p.L1057P Missense 25/28 - 1
7-87037465-C-T c.3167G>A p.S1056N Missense 25/28 - 2
7-87037469-G-T c.3163C>A p.L1055M Missense 25/28 - 1
7-87037472-C-G c.3160G>C p.G1054R Missense 25/28 - 2
7-87037472-C-T c.3160G>A p.G1054R Missense 25/28 - 4
7-87037474-T-A c.3158A>T p.Q1053L Missense 25/28 - 1
7-87037474-T-C c.3158A>G p.Q1053R Missense 25/28 - 1
7-87037480-A-G c.3152T>C p.V1051A Missense 25/28 - 3
7-87037484-G-A c.3148C>T p.P1050S Missense 25/28 - 2
7-87037488-G-A c.3144C>T p.N1048= Synonymous 25/28 - 5
7-87037488-GT-G c.3143del p.N1048Tfs*8 Frameshift 25/28 - 1
7-87037491-TGC-GG c.3139_3141delinsCC p.A1047Pfs*9 Frameshift 25/28 - 1
7-87037492-G-A c.3140C>T p.A1047V Missense 25/28 - 5
7-87037493-C-G c.3139G>C p.A1047P Missense 25/28 - 1
7-87037495-C-T c.3137G>A p.R1046Q Missense 25/28 - 4
7-87037496-G-A c.3136C>T p.R1046* Nonsense 25/28 - 3
7-87037497-G-A c.3135C>T p.T1045= Synonymous 25/28 - 1
7-87037501-G-A c.3131C>T p.P1044L Missense 25/28 - 3
7-87037502-G-A c.3130C>T p.P1044S Missense 25/28 - 1
7-87037502-G-T c.3130C>A p.P1044T Missense 25/28 - 1
7-87037505-A-G c.3127T>C p.Y1043H Missense 25/28 - 1
7-87037515-G-A c.3117C>T p.V1039= Synonymous 25/28 - 3
7-87037515-G-C c.3117C>G p.V1039= Synonymous 25/28 - 3
7-87037515-G-T c.3117C>A p.V1039= Synonymous 25/28 - 3
7-87037521-A-G c.3111T>C p.N1037= Synonymous 25/28 - 4
7-87037528-G-A c.3104C>T p.T1035I Missense 25/28 - 1
7-87037531-A-AT c.3100dup p.I1034Nfs*4 Frameshift 25/28 - 1
7-87037536-T-A c.3096A>T p.G1032= Synonymous 25/28 - 1
7-87037536-T-C c.3096A>G p.G1032= Synonymous 25/28 - 1
7-87037536-T-G c.3096A>C p.G1032= Synonymous 25/28 - 2
7-87037537-C-T c.3095G>A p.G1032E Missense 25/28 - 3
7-87037538-C-T c.3094G>A p.G1032R Missense 25/28 - 4
7-87037541-C-A c.3091G>T p.E1031* Nonsense 25/28 - 1
7-87037541-C-G c.3091G>C p.E1031Q Missense 25/28 - 2
7-87037549-T-C c.3083A>G p.D1028G Missense 25/28 - 1
7-87038547-C-G c.3081+5G>C - IntronicSNV - 24/27 1
7-87038551-C-G c.3081+1G>C - IntronicSNV - 24/27 1
7-87038555-C-T c.3078G>A p.K1026= Synonymous 24/28 - 3
7-87038556-T-C c.3077A>G p.K1026R Missense 24/28 - 1
7-87038555-CT-C c.3077del p.K1026Sfs*9 Frameshift 24/28 - 1
7-87038559-A-G c.3074T>C p.L1025P Missense 24/28 - 3
7-87038562-C-A c.3071G>T p.G1024V Missense 24/28 - 1
7-87038562-C-G c.3071G>C p.G1024A Missense 24/28 - 1
7-87038583-A-G c.3050T>C p.I1017T Missense 24/28 - 1
7-87038587-G-A c.3046C>T p.L1016= Synonymous 24/28 - 5
7-87038587-G-C c.3046C>G p.L1016V Missense 24/28 - 2
7-87038593-G-A c.3040C>T p.Q1014* Nonsense 24/28 - 1
7-87038595-C-A c.3038G>T p.R1013I Missense 24/28 - 1
7-87038595-C-T c.3038G>A p.R1013K Missense 24/28 - 1
7-87038595-C-CT c.3037dup p.R1013Kfs*6 Frameshift 24/28 - 1
7-87038599-C-A c.3034G>T p.E1012* Nonsense 24/28 - 1
7-87038606-C-T c.3027G>A p.M1009I Missense 24/28 - 1
7-87038622-G-A c.3011C>T p.A1004V Missense 24/28 - 2
7-87038627-C-A c.3006G>T p.L1002= Synonymous 24/28 - 1
7-87038643-T-C c.2990A>G p.Y997C Missense 24/28 - 1
7-87038650-G-C c.2983C>G p.P995A Missense 24/28 - 1
7-87038664-G-A c.2969C>T p.A990V Missense 24/28 - 1
7-87038667-TG-GC c.2965_2966delinsGC p.H989A Missense 24/28 - 1
7-87038670-C-T c.2963G>A p.G988E Missense 24/28 - 1
7-87038673-A-G c.2960T>C p.L987P Missense 24/28 - 1
7-87038676-G-A c.2957C>T p.A986V Missense 24/28 - 1
7-87038679-A-G c.2954T>C p.V985A Missense 24/28 - 2
7-87038680-C-A c.2953G>T p.V985L Missense 24/28 - 1
7-87038680-C-G c.2953G>C p.V985L Missense 24/28 - 1
7-87038681-T-A c.2952A>T p.A984= Synonymous 24/28 - 1
7-87038681-T-C c.2952A>G p.A984= Synonymous 24/28 - 5
7-87038682-G-A c.2951C>T p.A984V Missense 24/28 - 1
7-87038683-C-T c.2950G>A p.A984T Missense 24/28 - 1
7-87038685-C-A c.2948G>T p.G983V Missense 24/28 - 1
7-87038686-C-G c.2947G>C p.G983R Missense 24/28 - 1
7-87038686-C-T c.2947G>A p.G983S Missense 24/28 - 4
7-87038687-A-C c.2946T>G p.F982L Missense 24/28 - 1
7-87038687-A-T c.2946T>A p.F982L Missense 24/28 - 1
7-87038689-A-G c.2944T>C p.F982L Missense 24/28 - 1
7-87038694-A-G c.2939T>C p.I980T Missense 24/28 - 1
7-87038697-G-T c.2936C>A p.A979E Missense 24/28 - 2
7-87038701-A-G c.2932T>C p.S978P Missense 24/28 - 8
7-87038704-A-G c.2929T>C p.F977L Missense 24/28 - 1
7-87040426-C-G c.2924+783G>C - IntronicSNV - 23/27 1
7-87040629-C-T c.2924+580G>A - IntronicSNV - 23/27 1
7-87041208-C-A c.2924+1G>T - IntronicSNV - 23/27 1
7-87041210-G-C c.2923C>G p.L975V Missense 23/28 - 2
7-87041212-A-G c.2921T>C p.I974T Missense 23/28 - 2
7-87041219-C-A c.2914G>T p.D972Y Missense 23/28 - 1
7-87041219-C-T c.2914G>A p.D972N Missense 23/28 - 2
7-87041227-C-T c.2906G>A p.R969H Missense 23/28 - 6
7-87041228-G-A c.2905C>T p.R969C Missense 23/28 - 1
7-87041230-A-G c.2903T>C p.M968T Missense 23/28 - 4
7-87041234-TGTCCA-T c.2895_2899del p.N965Kfs*33 Frameshift 23/28 - 1
7-87041236-C-G c.2897G>C p.G966A Missense 23/28 - 3
7-87041247-G-A c.2886C>T p.L962= Synonymous 23/28 - 1
7-87041263-C-T c.2870G>A p.R957Q Missense 23/28 - 1
7-87041264-G-A c.2869C>T p.R957* Nonsense 23/28 - 15
7-87041269-CA-GT c.2863_2864delinsAC p.C955T Missense 23/28 - 1
7-87041271-AC-CT c.2861_2862delinsAG p.G954E Missense 23/28 - 1
7-87041273-C-A c.2860G>T p.G954C Missense 23/28 - 1
7-87041273-C-T c.2860G>A p.G954S Missense 23/28 - 3
7-87041275-G-T c.2858C>A p.A953D Missense 23/28 - 3
7-87041281-G-A c.2852C>T p.S951F Missense 23/28 - 5
7-87041287-TA-GC c.2845_2846delinsGC p.Y949A Missense 23/28 - 1
7-87041290-A-G c.2843T>C p.M948T Missense 23/28 - 1
7-87041290-AT-GC c.2842_2843delinsGC p.M948A Missense 23/28 - 1
7-87041297-C-T c.2836G>A p.A946T Missense 23/28 - 2
7-87041299-T-A c.2834A>T p.Q945L Missense 23/28 - 1
7-87041300-G-A c.2833C>T p.Q945* Nonsense 23/28 - 1
7-87041308-C-G c.2825G>C p.S942T Missense 23/28 - 1
7-87041316-A-C c.2817T>G p.I939M Missense 23/28 - 1
7-87041320-C-A c.2813G>T p.G938V Missense 23/28 - 1
7-87041321-C-G c.2812G>C p.G938R Missense 23/28 - 2
7-87041324-A-G c.2809T>C p.Y937H Missense 23/28 - 1
7-87041325-G-T c.2808C>A p.I936= Synonymous 23/28 - 1
7-87041329-T-A c.2804A>T p.H935L Missense 23/28 - 1
7-87041330-G-A c.2803C>T p.H935Y Missense 23/28 - 1
7-87041333-C-T c.2800G>A p.A934T Missense 23/28 - 19
7-87041339-G-GT c.2793_2794insA p.Q932Tfs*11 Frameshift 23/28 - 1
7-87041340-C-A c.2793G>T p.V931= Synonymous 23/28 - 1
7-87041340-C-G c.2793G>C p.V931= Synonymous 23/28 - 1
7-87041340-C-T c.2793G>A p.V931= Synonymous 23/28 - 1
7-87041344-G-A c.2789C>T p.S930F Missense 23/28 - 1
7-87041399-C-T c.2784-50G>A - IntronicSNV - 22/27 1
7-87042932-C-G c.2783+1G>C - IntronicSNV - 22/27 1
7-87042934-T-C c.2782A>G p.R928G Missense 22/28 - 1
7-87042938-A-C c.2778T>G p.P926= Synonymous 22/28 - 1
7-87042938-A-G c.2778T>C p.P926= Synonymous 22/28 - 1
7-87042938-A-T c.2778T>A p.P926= Synonymous 22/28 - 1
7-87042945-T-C c.2771A>G p.Y924C Missense 22/28 - 1
7-87042957-A-G c.2759T>C p.V920A Missense 22/28 - 1
7-87042959-A-G c.2757T>C p.Y919= Synonymous 22/28 - 1
7-87042962-C-T c.2754G>A p.M918I Missense 22/28 - 1
7-87042965-T-A c.2751A>T p.S917= Synonymous 22/28 - 1
7-87042965-T-C c.2751A>G p.S917= Synonymous 22/28 - 1
7-87042965-T-G c.2751A>C p.S917= Synonymous 22/28 - 1
7-87042968-T-C c.2748A>G p.E916= Synonymous 22/28 - 1
7-87042969-T-A c.2747A>T p.E916V Missense 22/28 - 1
7-87042969-T-C c.2747A>G p.E916G Missense 22/28 - 1
7-87042971-A-C c.2745T>G p.F915L Missense 22/28 - 1
7-87042975-T-G c.2741A>C p.K914T Missense 22/28 - 1
7-87042978-C-T c.2738G>A p.R913K Missense 22/28 - 6
7-87042983-C-A c.2733G>T p.Q911H Missense 22/28 - 1
7-87042987-G-T c.2729C>A p.T910N Missense 22/28 - 1
7-87042989-C-T c.2727G>A p.L909= Synonymous 22/28 - 4
7-87042991-A-G c.2725T>C p.L909= Synonymous 22/28 - 3
7-87042993-G-T c.2723C>A p.S908Y Missense 22/28 - 3
7-87042995-C-T c.2721G>A p.V907= Synonymous 22/28 - 1
7-87042999-A-G c.2717T>C p.V906A Missense 22/28 - 1
7-87043000-C-T c.2716G>A p.V906I Missense 22/28 - 2
7-87043005-C-A c.2711G>T p.R904M Missense 22/28 - 1
7-87043008-A-G c.2708T>C p.I903T Missense 22/28 - 1
7-87043012-T-C c.2704A>G p.N902D Missense 22/28 - 1
7-87043015-C-A c.2701G>T p.E901* Nonsense 22/28 - 1
7-87043015-C-T c.2701G>A p.E901K Missense 22/28 - 4
7-87043023-T-A c.2693A>T p.E898V Missense 22/28 - 1
7-87043024-C-T c.2692G>A p.E898K Missense 22/28 - 1
7-87043026-G-A c.2690C>T p.T897I Missense 22/28 - 1
7-87046582-G-T c.2682+46C>A - IntronicSNV - 21/27 1
7-87046626-A-G c.2682+2T>C - IntronicSNV - 21/27 1
7-87046633-C-A c.2677G>T p.G893* Nonsense 21/28 - 3
7-87046636-C-A c.2674G>T p.A892S Missense 21/28 - 1
7-87046638-G-A c.2672C>T p.A891V Missense 21/28 - 1
7-87046642-C-T c.2668G>A p.E890K Missense 21/28 - 1
7-87046648-C-A c.2662G>T p.E888* Nonsense 21/28 - 3
7-87046652-T-C c.2658A>G p.K886= Synonymous 21/28 - 1
7-87046648-C-CT c.2661dup p.E888Rfs*17 Frameshift 21/28 - 2
7-87046656-T-A c.2654A>T p.D885V Missense 21/28 - 1
7-87046659-C-G c.2651G>C p.R884T Missense 21/28 - 1
7-87046666-C-T c.2644G>A p.A882T Missense 21/28 - 4
7-87046667-A-T c.2643T>A p.N881K Missense 21/28 - 1
7-87046681-A-T c.2629T>A p.L877M Missense 21/28 - 1
7-87046682-T-A c.2628A>T p.K876N Missense 21/28 - 1
7-87046682-T-G c.2628A>C p.K876N Missense 21/28 - 1
7-87046684-T-C c.2626A>G p.K876E Missense 21/28 - 1
7-87046689-T-G c.2621A>C p.E874A Missense 21/28 - 1
7-87046690-C-T c.2620G>A p.E874K Missense 21/28 - 1
7-87046710-AT-GC c.2599_2600delinsGC p.I867A Missense 21/28 - 1
7-87046712-A-C c.2598T>G p.I866M Missense 21/28 - 1
7-87046713-A-C c.2597T>G p.I866S Missense 21/28 - 1
7-87046716-G-A c.2594C>T p.P865L Missense 21/28 - 1
7-87046726-C-T c.2584G>A p.A862T Missense 21/28 - 1
7-87046729-A-C c.2581T>G p.L861V Missense 21/28 - 1
7-87046732-G-T c.2578C>A p.L860I Missense 21/28 - 2
7-87046734-A-G c.2576T>C p.L859S Missense 21/28 - 2
7-87046738-G-A c.2572C>T p.L858= Synonymous 21/28 - 1
7-87046740-G-T c.2570C>A p.T857N Missense 21/28 - 1
7-87046741-T-C c.2569A>G p.T857A Missense 21/28 - 1
7-87046743-A-G c.2567T>C p.L856S Missense 21/28 - 2
7-87046746-T-A c.2564A>T p.Q855L Missense 21/28 - 4
7-87046747-G-A c.2563C>T p.Q855* Nonsense 21/28 - 1
7-87046748-C-T c.2562G>A p.W854* Nonsense 21/28 - 1
7-87046749-C-T c.2561G>A p.W854* Nonsense 21/28 - 1
7-87046751-A-C c.2559T>G p.G853= Synonymous 21/28 - 4
7-87046752-C-G c.2558G>C p.G853A Missense 21/28 - 1
7-87046753-C-T c.2557G>A p.G853S Missense 21/28 - 1
7-87046754-G-A c.2556C>T p.Y852= Synonymous 21/28 - 2
7-87046754-G-T c.2556C>A p.Y852* Nonsense 21/28 - 1
7-87046755-T-C c.2555A>G p.Y852C Missense 21/28 - 1
7-87046757-G-A c.2553C>T p.I851= Synonymous 21/28 - 1
7-87046757-G-T c.2553C>A p.I851= Synonymous 21/28 - 3
7-87046759-T-C c.2551A>G p.I851V Missense 21/28 - 1
7-87046764-G-T c.2546C>A p.S849* Nonsense 21/28 - 1
7-87046768-T-C c.2542A>G p.I848V Missense 21/28 - 1
7-87046777-C-A c.2533G>T p.G845C Missense 21/28 - 1
7-87046783-C-A c.2527G>T p.G843* Nonsense 21/28 - 1
7-87046784-A-C c.2526T>G p.L842= Synonymous 21/28 - 1
7-87046784-A-G c.2526T>C p.L842= Synonymous 21/28 - 2
7-87046784-A-T c.2526T>A p.L842= Synonymous 21/28 - 1
7-87046785-A-G c.2525T>C p.L842P Missense 21/28 - 1
7-87046787-G-T c.2523C>A p.N841K Missense 21/28 - 1
7-87046793-T-C c.2517A>G p.I839M Missense 21/28 - 1
7-87046795-T-A c.2515A>T p.I839L Missense 21/28 - 3
7-87046795-T-C c.2515A>G p.I839V Missense 21/28 - 1
7-87046795-T-G c.2515A>C p.I839L Missense 21/28 - 2
7-87046799-C-A c.2511G>T p.Q837H Missense 21/28 - 1
7-87046799-C-G c.2511G>C p.Q837H Missense 21/28 - 1
7-87046803-G-T c.2507C>A p.A836E Missense 21/28 - 2
7-87046806-A-G c.2504T>C p.I835T Missense 21/28 - 1
7-87046808-T-A c.2502A>T p.L834F Missense 21/28 - 1
7-87046808-T-G c.2502A>C p.L834F Missense 21/28 - 1
7-87046811-A-C c.2499T>G p.A833= Synonymous 21/28 - 1
7-87046811-A-G c.2499T>C p.A833= Synonymous 21/28 - 1
7-87046811-A-T c.2499T>A p.A833= Synonymous 21/28 - 1
7-87046813-C-T c.2497G>A p.A833T Missense 21/28 - 2
7-87046819-T-TA c.2490_2491insT p.R831* Nonsense 21/28 - 1
7-87046820-G-GT c.2489_2490insA p.R831Qfs*11 Frameshift 21/28 - 1
7-87046824-C-T c.2486G>A p.G829E Missense 21/28 - 3
7-87046828-T-C c.2482A>G p.T828A Missense 21/28 - 3
7-87046830-G-A c.2480C>T p.A827V Missense 21/28 - 1
7-87046830-G-C c.2480C>G p.A827G Missense 21/28 - 1
7-87046831-C-T c.2479G>A p.A827T Missense 21/28 - 1
7-87046920-G-A c.2479-89C>T - IntronicSNV - 20/27 1
7-87047813-T-C c.2478+40A>G - IntronicSNV - 20/27 2
7-87047854-C-A c.2477G>T p.G826V Missense 20/28 - 1
7-87047854-C-G c.2477G>C p.G826A Missense 20/28 - 1
7-87047855-C-G c.2476G>C p.G826R Missense 20/28 - 1
7-87047855-C-T c.2476G>A p.G826R Missense 20/28 - 1
7-87047860-A-C c.2471T>G p.V824G Missense 20/28 - 1
7-87047860-A-G c.2471T>C p.V824A Missense 20/28 - 1
7-87047862-T-A c.2469A>T p.Q823H Missense 20/28 - 1
7-87047862-T-G c.2469A>C p.Q823H Missense 20/28 - 1
7-87047871-A-G c.2460T>C p.D820= Synonymous 20/28 - 1
7-87047872-T-C c.2459A>G p.D820G Missense 20/28 - 1
7-87047876-GT-G c.2455del p.T819Qfs*16 Frameshift 20/28 - 1
7-87047876-T-C c.2455A>G p.T819A Missense 20/28 - 1
7-87047878-G-A c.2453C>T p.A818V Missense 20/28 - 1
7-87047881-A-T c.2450T>A p.L817H Missense 20/28 - 2
7-87047884-C-T c.2447G>A p.R816K Missense 20/28 - 2
7-87047885-T-C c.2446A>G p.R816G Missense 20/28 - 1
7-87047888-T-A c.2443A>T p.T815S Missense 20/28 - 4
7-87047893-A-C c.2438T>G p.L813R Missense 20/28 - 1
7-87047894-G-A c.2437C>T p.L813F Missense 20/28 - 1
7-87047902-G-A c.2429C>T p.T810I Missense 20/28 - 1
7-87047903-T-C c.2428A>G p.T810A Missense 20/28 - 1
7-87047905-C-T c.2426G>A p.S809N Missense 20/28 - 1
7-87047908-T-G c.2423A>C p.N808T Missense 20/28 - 1
7-87047909-T-A c.2422A>T p.N808Y Missense 20/28 - 1
7-87047907-GT-G c.2423del p.N808Tfs*27 Frameshift 20/28 - 2
7-87047921-C-G c.2410G>C p.D804H Missense 20/28 - 2
7-87047925-C-T c.2406G>A p.W802* Nonsense 20/28 - 2
7-87047926-C-T c.2405G>A p.W802* Nonsense 20/28 - 2
7-87047929-C-A c.2402G>T p.S801I Missense 20/28 - 1
7-87047929-C-T c.2402G>A p.S801N Missense 20/28 - 1
7-87047930-T-A c.2401A>T p.S801C Missense 20/28 - 1
7-87047930-T-C c.2401A>G p.S801G Missense 20/28 - 1
7-87047932-A-C c.2399T>G p.M800R Missense 20/28 - 1
7-87047934-G-C c.2397C>G p.D799E Missense 20/28 - 1
7-87047934-G-T c.2397C>A p.D799E Missense 20/28 - 2
7-87049110-AAAC-A c.2394+201_2394+203del - IntronicDeletion - 19/27 1
7-87049113-C-A c.2394+201G>T - IntronicSNV - 19/27 1
7-87049119-C-A c.2394+195G>T - IntronicSNV - 19/27 1
7-87049119-C-CA c.2394+194dup - IntronicInsertion - 19/27 1
7-87049130-C-A c.2394+184G>T - IntronicSNV - 19/27 1
7-87049175-T-C c.2394+139A>G - IntronicSNV - 19/27 1
7-87049175-T-G c.2394+139A>C - IntronicSNV - 19/27 1
7-87049318-C-A c.2390G>T p.R797I Missense 19/28 - 3
7-87049323-C-A c.2385G>T p.M795I Missense 19/28 - 2
7-87049323-C-G c.2385G>C p.M795I Missense 19/28 - 2
7-87049323-C-T c.2385G>A p.M795I Missense 19/28 - 3
7-87049328-C-G c.2380G>C p.A794P Missense 19/28 - 2
7-87049328-C-T c.2380G>A p.A794T Missense 19/28 - 1
7-87049331-T-C c.2377A>G p.K793E Missense 19/28 - 1
7-87049334-A-G c.2374T>C p.F792L Missense 19/28 - 1
7-87049337-C-A c.2371G>T p.A791S Missense 19/28 - 3
7-87049338-C-A c.2370G>T p.M790I Missense 19/28 - 1
7-87049338-C-G c.2370G>C p.M790I Missense 19/28 - 1
7-87049338-C-T c.2370G>A p.M790I Missense 19/28 - 1
7-87049339-A-G c.2369T>C p.M790T Missense 19/28 - 3
7-87049340-T-C c.2368A>G p.M790V Missense 19/28 - 3
7-87049344-CCG-GCT c.2362_2364delinsAGC p.R788S Missense 19/28 - 1
7-87049345-C-A c.2363G>T p.R788L Missense 19/28 - 11
7-87049345-C-G c.2363G>C p.R788P Missense 19/28 - 6
7-87049345-CG-TC c.2362_2363delinsGA p.R788E Missense 19/28 - 1
7-87049345-C-T c.2363G>A p.R788Q Missense 19/28 - 27
7-87049346-G-A c.2362C>T p.R788W Missense 19/28 - 4
7-87049350-TCT-ATG c.2356_2358delinsCAT p.R786H Missense 19/28 - 1
7-87049354-C-T c.2354G>A p.R785K Missense 19/28 - 4
7-87049357-G-C c.2351C>G p.T784S Missense 19/28 - 1
7-87049367-C-T c.2341G>A p.E781K Missense 19/28 - 1
7-87049369-C-T c.2339G>A p.G780D Missense 19/28 - 1
7-87049376-T-C c.2332A>G p.K778E Missense 19/28 - 1
7-87049377-C-T c.2331G>A p.G777= Synonymous 19/28 - 2
7-87049378-C-G c.2330G>C p.G777A Missense 19/28 - 1
7-87049379-C-A c.2329G>T p.G777W Missense 19/28 - 1
7-87049383-C-A c.2325G>T p.T775= Synonymous 19/28 - 1
7-87049383-C-G c.2325G>C p.T775= Synonymous 19/28 - 6
7-87049383-C-T c.2325G>A p.T775= Synonymous 19/28 - 6
7-87049384-G-A c.2324C>T p.T775M Missense 19/28 - 7
7-87049384-G-T c.2324C>A p.T775K Missense 19/28 - 1
7-87049386-G-C c.2322C>G p.F774L Missense 19/28 - 1
7-87049390-C-A c.2318G>T p.G773V Missense 19/28 - 3
7-87051342-T-A c.2316+95A>T - IntronicSNV - 18/27 1
7-87051439-G-A c.2314C>T p.Q772* Nonsense 18/28 - 5
7-87051441-A-C c.2312T>G p.L771R Missense 18/28 - 2
7-87051444-AA-GC c.2308_2309delinsGC p.F770A Missense 18/28 - 1
7-87051444-A-T c.2309T>A p.F770Y Missense 18/28 - 3
7-87051455-A-C c.2298T>G p.F766L Missense 18/28 - 1
7-87051451-TA-T c.2301del p.F767Lfs*30 Frameshift 18/28 - 1
7-87051451-T-TA c.2301dup p.T768Yfs*26 Frameshift 18/28 - 2
7-87051458-A-G c.2295T>C p.S765= Synonymous 18/28 - 2
7-87051459-G-T c.2294C>A p.S765Y Missense 18/28 - 1
7-87051460-A-C c.2293T>G p.S765A Missense 18/28 - 1
7-87051462-AT-GC c.2290_2291delinsGC p.I764A Missense 18/28 - 1
7-87051463-T-G c.2290A>C p.I764L Missense 18/28 - 4
7-87051464-A-C c.2289T>G p.I763M Missense 18/28 - 1
7-87051465-A-G c.2288T>C p.I763T Missense 18/28 - 2
7-87051465-A-T c.2288T>A p.I763N Missense 18/28 - 1
7-87051468-C-A c.2285G>T p.G762V Missense 18/28 - 1
7-87051468-C-T c.2285G>A p.G762E Missense 18/28 - 5
7-87051469-C-G c.2284G>C p.G762R Missense 18/28 - 3
7-87051469-C-T c.2284G>A p.G762R Missense 18/28 - 4
7-87051475-A-T c.2278T>A p.F760I Missense 18/28 - 1
7-87051478-A-T c.2275T>A p.L759I Missense 18/28 - 1
7-87051479-GA-TT c.2273_2274delinsAA p.F758* Nonsense 18/28 - 1
7-87051485-C-A c.2268G>T p.L756F Missense 18/28 - 1
7-87051489-G-A c.2264C>T p.S755F Missense 18/28 - 1
7-87051491-G-C c.2262C>G p.F754L Missense 18/28 - 1
7-87051491-G-T c.2262C>A p.F754L Missense 18/28 - 1
7-87051493-A-G c.2260T>C p.F754L Missense 18/28 - 1
7-87051494-T-C c.2259A>G p.I753M Missense 18/28 - 1
7-87051499-T-G c.2254A>C p.N752H Missense 18/28 - 1
7-87051501-C-T c.2252G>A p.C751Y Missense 18/28 - 1
7-87051502-A-G c.2251T>C p.C751R Missense 18/28 - 1
7-87051504-T-C c.2249A>G p.K750R Missense 18/28 - 3
7-87051506-C-T c.2247G>A p.Q749= Synonymous 18/28 - 1
7-87051507-T-A c.2246A>T p.Q749L Missense 18/28 - 2
7-87051517-C-T c.2236G>A p.V746M Missense 18/28 - 1
7-87051523-C-T c.2230G>A p.D744N Missense 18/28 - 8
7-87051526-C-T c.2227G>A p.D743N Missense 18/28 - 1
7-87051527-G-A c.2226C>T p.G742= Synonymous 18/28 - 2
7-87051527-G-C c.2226C>G p.G742= Synonymous 18/28 - 1
7-87051527-G-T c.2226C>A p.G742= Synonymous 18/28 - 2
7-87051528-C-G c.2225G>C p.G742A Missense 18/28 - 2
7-87051529-C-T c.2224G>A p.G742S Missense 18/28 - 3
7-87051531-G-A c.2222C>T p.P741L Missense 18/28 - 2
7-87051531-G-T c.2222C>A p.P741Q Missense 18/28 - 1
7-87051532-G-A c.2221C>T p.P741S Missense 18/28 - 1
7-87051532-G-C c.2221C>G p.P741A Missense 18/28 - 1
7-87051533-T-C c.2220A>G p.G740= Synonymous 18/28 - 1
7-87051534-C-T c.2219G>A p.G740E Missense 18/28 - 1
7-87051535-C-G c.2218G>C p.G740R Missense 18/28 - 1
7-87051535-C-T c.2218G>A p.G740R Missense 18/28 - 1
7-87051536-A-C c.2217T>G p.F739L Missense 18/28 - 1
7-87051536-A-G c.2217T>C p.F739= Synonymous 18/28 - 1
7-87051541-T-C c.2212A>G p.I738V Missense 18/28 - 2
7-87052268-C-T c.2212-727G>A - IntronicSNV - 17/27 1
7-87053068-C-T c.2211+154G>A - IntronicSNV - 17/27 1
7-87053148-T-A c.2211+74A>T - IntronicSNV - 17/27 1
7-87053150-A-G c.2211+72T>C - IntronicSNV - 17/27 3
7-87053150-A-T c.2211+72T>A - IntronicSNV - 17/27 2
7-87053206-G-A c.2211+16C>T - IntronicSNV - 17/27 11
7-87053221-C-A c.2211+1G>T - IntronicSNV - 17/27 1
7-87053222-C-T c.2211G>A p.A737= Synonymous 17/28 - 1
7-87053223-G-A c.2210C>T p.A737V Missense 17/28 - 3
7-87053223-G-T c.2210C>A p.A737E Missense 17/28 - 1
7-87053226-A-G c.2207T>C p.I736T Missense 17/28 - 1
7-87053231-C-T c.2202G>A p.E734= Synonymous 17/28 - 2
7-87053247-G-A c.2186C>T p.S729L Missense 17/28 - 4
7-87053250-A-T c.2183T>A p.F728Y Missense 17/28 - 1
7-87053251-A-G c.2182T>C p.F728L Missense 17/28 - 1
7-87053254-C-T c.2179G>A p.A727T Missense 17/28 - 1
7-87053255-C-A c.2178G>T p.P726= Synonymous 17/28 - 1
7-87053255-C-G c.2178G>C p.P726= Synonymous 17/28 - 1
7-87053255-C-T c.2178G>A p.P726= Synonymous 17/28 - 1
7-87053256-G-A c.2177C>T p.P726L Missense 17/28 - 10
7-87053256-G-T c.2177C>A p.P726Q Missense 17/28 - 1
7-87053257-G-T c.2176C>A p.P726T Missense 17/28 - 1
7-87053262-A-G c.2171T>C p.L724P Missense 17/28 - 1
7-87053263-AG-A c.2170del p.L724Ffs*13 Frameshift 17/28 - 2
7-87053265-C-A c.2168G>T p.G723V Missense 17/28 - 1
7-87053265-C-G c.2168G>C p.G723A Missense 17/28 - 1
7-87053265-C-T c.2168G>A p.G723E Missense 17/28 - 3
7-87053267-C-A c.2166G>T p.G722= Synonymous 17/28 - 1
7-87053267-C-G c.2166G>C p.G722= Synonymous 17/28 - 1
7-87053267-C-T c.2166G>A p.G722= Synonymous 17/28 - 1
7-87053268-C-G c.2165G>C p.G722A Missense 17/28 - 2
7-87053263-GC-G c.2169del p.L724Ffs*13 Frameshift 17/28 - 2
7-87053263-G-GC c.2169dup p.L724Afs*21 Frameshift 17/28 - 3
7-87053269-C-T c.2164G>A p.G722R Missense 17/28 - 1
7-87053271-T-C c.2162A>G p.N721S Missense 17/28 - 3
7-87053274-G-A c.2159C>T p.A720V Missense 17/28 - 1
7-87053277-AT-GC c.2155_2156delinsGC p.I719A Missense 17/28 - 1
7-87053280-G-A c.2153C>T p.A718V Missense 17/28 - 1
7-87053284-A-T c.2149T>A p.C717S Missense 17/28 - 2
7-87053286-A-G c.2147T>C p.V716A Missense 17/28 - 1
7-87053289-G-A c.2144C>T p.T715I Missense 17/28 - 4
7-87053289-G-C c.2144C>G p.T715R Missense 17/28 - 3
7-87053292-C-T c.2141G>A p.G714E Missense 17/28 - 1
7-87053293-C-G c.2140G>C p.G714R Missense 17/28 - 3
7-87053293-C-T c.2140G>A p.G714R Missense 17/28 - 6
7-87053296-C-T c.2137G>A p.V713M Missense 17/28 - 4
7-87053297-G-A c.2136C>T p.V712= Synonymous 17/28 - 5
7-87053297-G-C c.2136C>G p.V712= Synonymous 17/28 - 1
7-87053297-G-T c.2136C>A p.V712= Synonymous 17/28 - 1
7-87053298-A-G c.2135T>C p.V712A Missense 17/28 - 1
7-87053301-A-G c.2132T>C p.F711S Missense 17/28 - 2
7-87053304-T-C c.2129A>G p.Y710C Missense 17/28 - 1
7-87053308-G-A c.2125C>T p.P709S Missense 17/28 - 2
7-87053309-C-T c.2124G>A p.W708* Nonsense 17/28 - 3
7-87053310-C-T c.2123G>A p.W708* Nonsense 17/28 - 4
7-87053324-C-T c.2109G>A p.L703= Synonymous 17/28 - 1
7-87053332-G-T c.2101C>A p.L701M Missense 17/28 - 2
7-87053339-C-A c.2094G>T p.L698= Synonymous 17/28 - 1
7-87053341-G-A c.2092C>T p.L698= Synonymous 17/28 - 1
7-87053345-G-A c.2088C>T p.S696= Synonymous 17/28 - 2
7-87053346-G-A c.2087C>T p.S696F Missense 17/28 - 2
7-87053347-A-C c.2086T>G p.S696A Missense 17/28 - 1
7-87053350-C-T c.2083G>A p.V695M Missense 17/28 - 1
7-87053355-G-T c.2078C>A p.P693Q Missense 17/28 - 1
7-87053354-TG-T c.2078del p.P693Hfs*6 Frameshift 17/28 - 2
7-87053364-G-T c.2069C>A p.A690E Missense 17/28 - 1
7-87053366-T-A c.2067A>T p.E689D Missense 17/28 - 1
7-87053368-C-T c.2065G>A p.E689K Missense 17/28 - 1
7-87056011-T-C c.2064+55A>G - IntronicSNV - 16/27 2
7-87056063-T-A c.2064+3A>T - IntronicSNV - 16/27 2
7-87056071-C-G c.2059G>C p.G687R Missense 16/28 - 1
7-87056074-C-G c.2056G>C p.D686H Missense 16/28 - 1
7-87056074-C-T c.2056G>A p.D686N Missense 16/28 - 3
7-87056076-G-A c.2054C>T p.T685I Missense 16/28 - 1
7-87056076-G-C c.2054C>G p.T685S Missense 16/28 - 2
7-87056076-G-T c.2054C>A p.T685N Missense 16/28 - 1
7-87056077-T-A c.2053A>T p.T685S Missense 16/28 - 1
7-87056077-T-C c.2053A>G p.T685A Missense 16/28 - 1
7-87056080-C-A c.2050G>T p.E684* Nonsense 16/28 - 1
7-87056080-C-T c.2050G>A p.E684K Missense 16/28 - 1
7-87056085-T-C c.2045A>G p.D682G Missense 16/28 - 1
7-87056086-C-A c.2044G>T p.D682Y Missense 16/28 - 3
7-87056086-TC-T c.2044del p.D682Mfs*17 Frameshift 16/28 - 1
7-87056093-C-A c.2037G>T p.K679N Missense 16/28 - 1
7-87056093-C-G c.2037G>C p.K679N Missense 16/28 - 1
7-87056094-T-C c.2036A>G p.K679R Missense 16/28 - 1
7-87056097-T-G c.2033A>C p.Q678P Missense 16/28 - 1
7-87056098-G-A c.2032C>T p.Q678* Nonsense 16/28 - 3
7-87056100-CA-GT c.2029_2030delinsAC p.C677T Missense 16/28 - 6
7-87056102-C-A c.2028G>T p.M676I Missense 16/28 - 1
7-87056102-C-T c.2028G>A p.M676I Missense 16/28 - 2
7-87056104-T-A c.2026A>T p.M676L Missense 16/28 - 1
7-87056107-G-A c.2023C>T p.Q675* Nonsense 16/28 - 1
7-87056108-T-A c.2022A>T p.S674= Synonymous 16/28 - 1
7-87056108-T-C c.2022A>G p.S674= Synonymous 16/28 - 1
7-87056108-T-G c.2022A>C p.S674= Synonymous 16/28 - 1
7-87056109-G-A c.2021C>T p.S674L Missense 16/28 - 3
7-87056110-A-C c.2020T>G p.S674A Missense 16/28 - 1
7-87056114-T-A c.2016A>T p.K672N Missense 16/28 - 2
7-87056114-T-G c.2016A>C p.K672N Missense 16/28 - 3
7-87056116-T-A c.2014A>T p.K672* Nonsense 16/28 - 1
7-87056116-T-C c.2014A>G p.K672E Missense 16/28 - 1
7-87056119-G-A c.2011C>T p.L671F Missense 16/28 - 1
7-87056120-G-T c.2010C>A p.N670K Missense 16/28 - 2
7-87056126-C-A c.2004G>T p.Q668H Missense 16/28 - 1
7-87056126-C-G c.2004G>C p.Q668H Missense 16/28 - 1
7-87056130-G-A c.2000C>T p.T667I Missense 16/28 - 1
7-87056131-T-C c.1999A>G p.T667A Missense 16/28 - 1
7-87056133-GA-CG c.1996_1997delinsCG p.S666R Missense 16/28 - 1
7-87056134-A-C c.1996T>G p.S666A Missense 16/28 - 1
7-87056134-A-T c.1996T>A p.S666T Missense 16/28 - 3
7-87056136-T-C c.1994A>G p.H665R Missense 16/28 - 3
7-87056138-C-G c.1992G>C p.R664S Missense 16/28 - 1
7-87056139-C-G c.1991G>C p.R664T Missense 16/28 - 1
7-87056145-A-C c.1985T>G p.L662R Missense 16/28 - 1
7-87056148-C-T c.1982G>A p.R661H Missense 16/28 - 3
7-87056149-G-A c.1981C>T p.R661C Missense 16/28 - 1
7-87056153-T-C c.1977A>G p.K659= Synonymous 16/28 - 1
7-87056154-T-A c.1976A>T p.K659I Missense 16/28 - 1
7-87056156-C-A c.1974G>T p.W658C Missense 16/28 - 1
7-87056156-C-T c.1974G>A p.W658* Nonsense 16/28 - 2
7-87056157-C-A c.1973G>T p.W658L Missense 16/28 - 1
7-87056157-C-T c.1973G>A p.W658* Nonsense 16/28 - 6
7-87056159-G-A c.1971C>T p.G657= Synonymous 16/28 - 3
7-87056159-G-C c.1971C>G p.G657= Synonymous 16/28 - 1
7-87056159-GC-CT c.1970_1971delinsAG p.G657E Missense 16/28 - 1
7-87056167-G-A c.1963C>T p.P655S Missense 16/28 - 1
7-87056167-G-T c.1963C>A p.P655T Missense 16/28 - 1
7-87056172-A-T c.1958T>A p.M653K Missense 16/28 - 2
7-87056173-T-C c.1957A>G p.M653V Missense 16/28 - 1
7-87056175-C-A c.1955G>T p.R652I Missense 16/28 - 1
7-87056176-T-C c.1954A>G p.R652G Missense 16/28 - 44
7-87056176-T-G c.1954A>C p.R652= Synonymous 16/28 - 7
7-87056178-G-A c.1952C>T p.T651I Missense 16/28 - 1
7-87056178-G-C c.1952C>G p.T651S Missense 16/28 - 1
7-87056178-G-T c.1952C>A p.T651N Missense 16/28 - 6
7-87056179-T-A c.1951A>T p.T651S Missense 16/28 - 1
7-87056184-G-A c.1946C>T p.A649V Missense 16/28 - 1
7-87056191-C-T c.1939G>A p.E647K Missense 16/28 - 2
7-87056194-C-T c.1936G>A p.D646N Missense 16/28 - 1
7-87056196-T-C c.1934A>G p.N645S Missense 16/28 - 1
7-87056199-A-T c.1931T>A p.L644Q Missense 16/28 - 2
7-87056200-G-C c.1930C>G p.L644V Missense 16/28 - 2
7-87056200-G-T c.1930C>A p.L644I Missense 16/28 - 1
7-87056203-C-CA c.1926dup p.E643* Nonsense 16/28 - 2
7-87056214-G-C c.1916C>G p.S639* Nonsense 16/28 - 2
7-87056214-G-T c.1916C>A p.S639* Nonsense 16/28 - 2
7-87056216-C-T c.1914G>A p.Q638= Synonymous 16/28 - 2
7-87056218-G-A c.1912C>T p.Q638* Nonsense 16/28 - 1
7-87056220-A-T c.1910T>A p.I637N Missense 16/28 - 2
7-87056221-T-G c.1909A>C p.I637L Missense 16/28 - 1
7-87056224-G-A c.1906C>T p.Q636* Nonsense 16/28 - 4
7-87056226-CT-GC c.1903_1904delinsGC p.S635A Missense 16/28 - 1
7-87056229-C-G c.1901G>C p.G634A Missense 16/28 - 1
7-87056261-G-GTGTT c.1894-26_1894-25insAACA - IntronicInsertion - 15/27 1
7-87056272-T-TGTG c.1894-39_1894-37dup - IntronicInsertion - 15/27 1
7-87056286-T-TTGTG c.1894-51_1894-50insCACA - IntronicInsertion - 15/27 1
7-87056284-T-TGTGTGC c.1894-49_1894-48insGCACAC - IntronicInsertion - 15/27 1
7-87058543-C-A c.1893+2177G>T - IntronicSNV - 15/27 1
7-87059699-C-T c.1893+1021G>A - IntronicSNV - 15/27 5
7-87060714-A-G c.1893+6T>C - IntronicSNV - 15/27 1
7-87060720-C-T c.1893G>A p.Q631= Synonymous 15/28 - 1
7-87060723-C-A c.1890G>T p.M630I Missense 15/28 - 1
7-87060723-C-T c.1890G>A p.M630I Missense 15/28 - 1
7-87060733-A-T c.1880T>A p.L627H Missense 15/28 - 1
7-87060734-G-T c.1879C>A p.L627I Missense 15/28 - 4
7-87060743-A-G c.1870T>C p.Y624H Missense 15/28 - 1
7-87060746-C-A c.1867G>T p.V623L Missense 15/28 - 2
7-87060746-C-G c.1867G>C p.V623L Missense 15/28 - 1
7-87060748-C-A c.1865G>T p.G622V Missense 15/28 - 1
7-87060748-C-T c.1865G>A p.G622E Missense 15/28 - 6
7-87060752-C-A c.1861G>T p.E621* Nonsense 15/28 - 1
7-87060752-C-T c.1861G>A p.E621K Missense 15/28 - 1
7-87060756-C-G c.1857G>C p.K619N Missense 15/28 - 1
7-87060752-CCTT-C c.1858_1860del p.K620del InFrameDeletion 15/28 - 2
7-87060767-C-T c.1846G>A p.E616K Missense 15/28 - 7
7-87060768-G-A c.1845C>T p.S615= Synonymous 15/28 - 1
7-87060768-G-C c.1845C>G p.S615R Missense 15/28 - 1
7-87060768-G-T c.1845C>A p.S615R Missense 15/28 - 1
7-87060770-T-G c.1843A>C p.S615R Missense 15/28 - 1
7-87060775-C-A c.1838G>T p.S613I Missense 15/28 - 1
7-87060778-C-G c.1835G>C p.G612A Missense 15/28 - 1
7-87060779-C-G c.1834G>C p.G612R Missense 15/28 - 2
7-87060779-C-T c.1834G>A p.G612R Missense 15/28 - 3
7-87060780-T-A c.1833A>T p.Q611H Missense 15/28 - 1
7-87060780-T-G c.1833A>C p.Q611H Missense 15/28 - 1
7-87060784-T-G c.1829A>C p.E610A Missense 15/28 - 1
7-87060789-AAT-CTC c.1822_1824delinsGAG p.I608E Missense 15/28 - 1
7-87060804-CAAACCCAGCGATGACATCTGCATTTCG-C c.1783_1809del p.R595_F603del InFrameDeletion 15/28 - 1
7-87060806-A-C c.1807T>G p.F603V Missense 15/28 - 1
7-87060807-CCC-GCT c.1804_1806delinsAGC p.G602S Missense 15/28 - 1
7-87060809-C-A c.1804G>T p.G602W Missense 15/28 - 2
7-87060812-C-A c.1801G>T p.A601S Missense 15/28 - 2
7-87060812-C-T c.1801G>A p.A601T Missense 15/28 - 4
7-87060813-G-A c.1800C>T p.I600= Synonymous 15/28 - 2
7-87060815-T-C c.1798A>G p.I600V Missense 15/28 - 1
7-87060816-GA-CT c.1796_1797delinsAG p.V599E Missense 15/28 - 1
7-87060828-TCG-CCA c.1783_1785delinsTGG p.R595W Missense 15/28 - 1
7-87060829-C-T c.1784G>A p.R595Q Missense 15/28 - 1
7-87060830-G-A c.1783C>T p.R595* Nonsense 15/28 - 4
7-87060830-G-T c.1783C>A p.R595= Synonymous 15/28 - 1
7-87060831-G-A c.1782C>T p.V594= Synonymous 15/28 - 4
7-87060831-G-C c.1782C>G p.V594= Synonymous 15/28 - 1
7-87060832-A-G c.1781T>C p.V594A Missense 15/28 - 1
7-87060832-A-T c.1781T>A p.V594D Missense 15/28 - 2
7-87060834-C-A c.1779G>T p.T593= Synonymous 15/28 - 2
7-87060834-C-G c.1779G>C p.T593= Synonymous 15/28 - 2
7-87060834-C-T c.1779G>A p.T593= Synonymous 15/28 - 3
7-87060835-G-A c.1778C>T p.T593M Missense 15/28 - 8
7-87060835-G-T c.1778C>A p.T593K Missense 15/28 - 1
7-87060837-A-C c.1776T>G p.S592= Synonymous 15/28 - 1
7-87060837-A-G c.1776T>C p.S592= Synonymous 15/28 - 1
7-87060837-A-T c.1776T>A p.S592= Synonymous 15/28 - 1
7-87060839-A-T c.1774T>A p.S592T Missense 15/28 - 1
7-87060841-A-T c.1772T>A p.L591Q Missense 15/28 - 4
7-87060844-C-G c.1769G>C p.R590P Missense 15/28 - 7
7-87060844-C-T c.1769G>A p.R590Q Missense 15/28 - 34
7-87060845-G-A c.1768C>T p.R590* Nonsense 15/28 - 1
7-87060846-G-A c.1767C>T p.H589= Synonymous 15/28 - 1
7-87060846-G-C c.1767C>G p.H589Q Missense 15/28 - 1
7-87060846-G-T c.1767C>A p.H589Q Missense 15/28 - 1
7-87060847-TG-GT c.1765_1766delinsAC p.H589T Missense 15/28 - 1
7-87060848-G-A c.1765C>T p.H589Y Missense 15/28 - 4
7-87060848-G-T c.1765C>A p.H589N Missense 15/28 - 1
7-87060851-C-T c.1762G>A p.A588T Missense 15/28 - 1
7-87060857-C-A c.1756G>T p.V586L Missense 15/28 - 1
7-87060865-G-T c.1748C>A p.T583N Missense 15/28 - 2
7-87060867-CC-AT c.1745_1746delinsAT p.R582H Missense 15/28 - 1
7-87060868-C-T c.1745G>A p.R582Q Missense 15/28 - 2
7-87060869-G-A c.1744C>T p.R582W Missense 15/28 - 3
7-87060875-C-T c.1738G>A p.E580K Missense 15/28 - 1
7-87060879-G-A c.1734C>T p.A578= Synonymous 15/28 - 2
7-87060918-T-C c.1732-37A>G - IntronicSNV - 14/27 1
7-87068464-T-A c.1731+519A>T - IntronicSNV - 14/27 1
7-87068464-T-C c.1731+519A>G - IntronicSNV - 14/27 1
7-87068983-C-T c.1731G>A p.K577= Synonymous 14/28 - 2
7-87068987-T-C c.1727A>G p.D576G Missense 14/28 - 3
7-87068988-C-T c.1726G>A p.D576N Missense 14/28 - 3
7-87068997-C-A c.1717G>T p.A573S Missense 14/28 - 1
7-87069000-G-A c.1714C>T p.Q572* Nonsense 14/28 - 3
7-87069002-TA-T c.1712del p.V571Dfs*16 Frameshift 14/28 - 3
7-87069003-C-A c.1711G>T p.V571L Missense 14/28 - 1
7-87069003-C-G c.1711G>C p.V571L Missense 14/28 - 1
7-87069003-C-T c.1711G>A p.V571I Missense 14/28 - 2
7-87069004-C-A c.1710G>T p.E570D Missense 14/28 - 1
7-87069004-C-G c.1710G>C p.E570D Missense 14/28 - 1
7-87069006-C-G c.1708G>C p.E570Q Missense 14/28 - 1
7-87069012-C-T c.1702G>A p.E568K Missense 14/28 - 1
7-87069014-C-T c.1700G>A p.S567N Missense 14/28 - 1
7-87069020-G-T c.1694C>A p.T565K Missense 14/28 - 1
7-87069022-G-T c.1692C>A p.D564E Missense 14/28 - 1
7-87069023-T-C c.1691A>G p.D564G Missense 14/28 - 3
7-87069024-C-CA c.1689_1690insT p.D564* Nonsense 14/28 - 1
7-87069024-C-T c.1690G>A p.D564N Missense 14/28 - 2
7-87069025-C-A c.1689G>T p.L563F Missense 14/28 - 1
7-87069025-C-G c.1689G>C p.L563F Missense 14/28 - 1
7-87069027-A-G c.1687T>C p.L563= Synonymous 14/28 - 1
7-87069030-C-A c.1684G>T p.A562S Missense 14/28 - 1
7-87069034-C-A c.1680G>T p.T560= Synonymous 14/28 - 2
7-87069034-C-G c.1680G>C p.T560= Synonymous 14/28 - 2
7-87069034-C-T c.1680G>A p.T560= Synonymous 14/28 - 3
7-87069035-G-A c.1679C>T p.T560M Missense 14/28 - 2
7-87069038-G-C c.1676C>G p.A559G Missense 14/28 - 1
7-87069038-GC-TA c.1675_1676delinsTA p.A559Y Missense 14/28 - 1
7-87069039-C-T c.1675G>A p.A559T Missense 14/28 - 3
7-87069040-C-A c.1674G>T p.E558D Missense 14/28 - 1
7-87069040-C-G c.1674G>C p.E558D Missense 14/28 - 1
7-87069042-C-G c.1672G>C p.E558Q Missense 14/28 - 5
7-87069042-C-T c.1672G>A p.E558K Missense 14/28 - 1
7-87069047-A-C c.1667T>G p.L556R Missense 14/28 - 7
7-87069050-A-G c.1664T>C p.L555P Missense 14/28 - 1
7-87069054-G-A c.1660C>T p.L554F Missense 14/28 - 1
7-87069055-G-A c.1659C>T p.I553= Synonymous 14/28 - 1
7-87069055-G-T c.1659C>A p.I553= Synonymous 14/28 - 1
7-87069058-C-A c.1656G>T p.K552N Missense 14/28 - 2
7-87069058-C-G c.1656G>C p.K552N Missense 14/28 - 4
7-87069062-G-A c.1652C>T p.P551L Missense 14/28 - 1
7-87069062-G-C c.1652C>G p.P551R Missense 14/28 - 1
7-87069063-G-T c.1651C>A p.P551T Missense 14/28 - 2
7-87069068-C-A c.1646G>T p.R549L Missense 14/28 - 3
7-87069068-C-T c.1646G>A p.R549H Missense 14/28 - 6
7-87069069-G-A c.1645C>T p.R549C Missense 14/28 - 7
7-87069070-AAC-CAT c.1642_1644delinsATG p.V548M Missense 14/28 - 1
7-87069075-G-T c.1639C>A p.L547M Missense 14/28 - 1
7-87069077-G-C c.1637C>G p.A546G Missense 14/28 - 1
7-87069077-G-T c.1637C>A p.A546D Missense 14/28 - 7
7-87069080-C-T c.1634G>A p.R545H Missense 14/28 - 6
7-87069081-G-A c.1633C>T p.R545C Missense 14/28 - 9
7-87069081-G-C c.1633C>G p.R545G Missense 14/28 - 3
7-87069083-G-A c.1631C>T p.A544V Missense 14/28 - 1
7-87069085-A-G c.1629T>C p.I543= Synonymous 14/28 - 1
7-87069085-A-T c.1629T>A p.I543= Synonymous 14/28 - 1
7-87069086-A-G c.1628T>C p.I543T Missense 14/28 - 1
7-87069088-G-A c.1626C>T p.A542= Synonymous 14/28 - 1
7-87069090-C-G c.1624G>C p.A542P Missense 14/28 - 1
7-87069090-C-T c.1624G>A p.A542T Missense 14/28 - 2
7-87069093-T-A c.1621A>T p.I541F Missense 14/28 - 14
7-87069095-C-T c.1619G>A p.R540K Missense 14/28 - 1
7-87069101-T-C c.1613A>G p.K538R Missense 14/28 - 1
7-87069108-C-G c.1606G>C p.G536R Missense 14/28 - 1
7-87069108-C-T c.1606G>A p.G536R Missense 14/28 - 1
7-87069110-C-G c.1604G>C p.G535A Missense 14/28 - 1
7-87069110-C-T c.1604G>A p.G535D Missense 14/28 - 8
7-87069115-C-A c.1599G>T p.L533= Synonymous 14/28 - 1
7-87069115-C-G c.1599G>C p.L533= Synonymous 14/28 - 1
7-87069115-C-T c.1599G>A p.L533= Synonymous 14/28 - 1
7-87069117-G-A c.1597C>T p.L533= Synonymous 14/28 - 1
7-87069116-A-T c.1598T>A p.L533Q Missense 14/28 - 1
7-87069122-G-A c.1592C>T p.A531V Missense 14/28 - 1
7-87069123-C-G c.1591G>C p.A531P Missense 14/28 - 1
7-87069123-C-T c.1591G>A p.A531T Missense 14/28 - 1
7-87069124-C-A c.1590G>T p.G530= Synonymous 14/28 - 1
7-87069124-C-G c.1590G>C p.G530= Synonymous 14/28 - 1
7-87069124-C-T c.1590G>A p.G530= Synonymous 14/28 - 1
7-87069127-T-C c.1587A>G p.R529= Synonymous 14/28 - 1
7-87069128-C-T c.1586G>A p.R529K Missense 14/28 - 1
7-87069128-CT-TG c.1585_1586delinsCA p.R529Q Missense 14/28 - 1
7-87069129-T-TA c.1584_1585insT p.R529* Nonsense 14/28 - 1
7-87069130-C-A c.1584G>T p.E528D Missense 14/28 - 2
7-87069130-C-G c.1584G>C p.E528D Missense 14/28 - 13
7-87069130-C-T c.1584G>A p.E528= Synonymous 14/28 - 1
7-87069131-CT-C c.1583del p.E528Gfs*6 Frameshift 14/28 - 1
7-87069132-C-T c.1582G>A p.E528K Missense 14/28 - 3
7-87069125-CCT-C c.1587_1588del p.A531Pfs*27 Frameshift 14/28 - 4
7-87069134-C-T c.1580G>A p.G527E Missense 14/28 - 2
7-87069137-A-C c.1577T>G p.V526G Missense 14/28 - 7
7-87069138-C-A c.1576G>T p.V526F Missense 14/28 - 2
7-87069144-T-C c.1570A>G p.T524A Missense 14/28 - 4
7-87069144-T-G c.1570A>C p.T524P Missense 14/28 - 1
7-87069151-T-C c.1563A>G p.K521= Synonymous 14/28 - 1
7-87069509-C-T c.1560+6G>A - IntronicSNV - 13/27 1
7-87069512-T-C c.1560+3A>G - IntronicSNV - 13/27 1
7-87069522-A-G c.1553T>C p.L518S Missense 13/28 - 1
7-87069521-TA-T c.1553del p.L518Yfs*16 Frameshift 13/28 - 4
7-87069523-A-C c.1552T>G p.L518V Missense 13/28 - 1
7-87069527-C-A c.1548G>T p.M516I Missense 13/28 - 1
7-87069527-C-G c.1548G>C p.M516I Missense 13/28 - 1
7-87069527-C-T c.1548G>A p.M516I Missense 13/28 - 7
7-87069528-A-C c.1547delinsG p.M516R Missense 13/28 - 1
7-87069529-T-C c.1546A>G p.M516V Missense 13/28 - 1
7-87069530-G-A c.1545C>T p.I515= Synonymous 13/28 - 3
7-87069530-G-T c.1545C>A p.I515= Synonymous 13/28 - 4
7-87069536-C-T c.1539G>A p.E513= Synonymous 13/28 - 1
7-87069537-T-A c.1538A>T p.E513V Missense 13/28 - 3
7-87069538-C-G c.1537G>C p.E513Q Missense 13/28 - 5
7-87069538-C-T c.1537G>A p.E513K Missense 13/28 - 1
7-87069544-C-T c.1531G>A p.A511T Missense 13/28 - 2
7-87069546-T-C c.1529A>G p.N510S Missense 13/28 - 10
7-87069553-C-T c.1522G>A p.E508K Missense 13/28 - 2
7-87069572-C-A c.1503G>T p.E501D Missense 13/28 - 1
7-87069572-C-G c.1503G>C p.E501D Missense 13/28 - 1
7-87069574-C-A c.1501G>T p.E501* Nonsense 13/28 - 1
7-87069574-C-T c.1501G>A p.E501K Missense 13/28 - 1
7-87069575-A-C c.1500T>G p.D500E Missense 13/28 - 1
7-87069575-A-T c.1500T>A p.D500E Missense 13/28 - 1
7-87069576-T-G c.1499A>C p.D500A Missense 13/28 - 1
7-87069577-C-T c.1498G>A p.D500N Missense 13/28 - 1
7-87069581-GG-CA c.1493_1494delinsTG p.T498M Missense 13/28 - 1
7-87069591-C-T c.1484G>A p.G495E Missense 13/28 - 5
7-87069594-C-T c.1481G>A p.R494H Missense 13/28 - 3
7-87069595-G-T c.1480C>A p.R494S Missense 13/28 - 1
7-87069597-C-T c.1478G>A p.G493D Missense 13/28 - 1
7-87069600-T-TA c.1474dup p.Y492Lfs*10 Frameshift 13/28 - 2
7-87069603-C-T c.1472G>A p.C491Y Missense 13/28 - 1
7-87069606-A-G c.1469T>C p.I490T Missense 13/28 - 5
7-87069613-C-G c.1462G>C p.E488Q Missense 13/28 - 1
7-87069613-C-T c.1462G>A p.E488K Missense 13/28 - 1
7-87069615-G-C c.1460C>G p.A487G Missense 13/28 - 1
7-87069620-TG-CA c.1454_1455inv p.T485M Missense 13/28 - 1
7-87069624-G-A c.1451C>T p.T484I Missense 13/28 - 2
7-87069624-G-T c.1451C>A p.T484N Missense 13/28 - 1
7-87069628-A-C c.1447T>G p.S483A Missense 13/28 - 1
7-87069628-A-G c.1447T>C p.S483P Missense 13/28 - 2
7-87069632-C-A c.1443G>T p.L481= Synonymous 13/28 - 1
7-87069632-C-G c.1443G>C p.L481= Synonymous 13/28 - 1
7-87069632-C-T c.1443G>A p.L481= Synonymous 13/28 - 1
7-87069633-A-C c.1442T>G p.L481R Missense 13/28 - 2
7-87069633-A-G c.1442T>C p.L481P Missense 13/28 - 1
7-87069634-G-A c.1441C>T p.L481= Synonymous 13/28 - 3
7-87069639-G-A c.1436C>T p.P479L Missense 13/28 - 5
7-87069644-C-T c.1431G>A p.Q477= Synonymous 13/28 - 1
7-87069646-G-T c.1429C>A p.Q477K Missense 13/28 - 1
7-87069651-A-G c.1424T>C p.V475A Missense 13/28 - 2
7-87069651-A-T c.1424T>A p.V475E Missense 13/28 - 1
7-87069652-C-T c.1423G>A p.V475M Missense 13/28 - 1
7-87069654-AC-CA c.1420_1421delinsTG p.V474W Missense 13/28 - 1
7-87069655-AC-A c.1420del p.V474Wfs*2 Frameshift 13/28 - 2
7-87069655-C-T c.1420G>A p.V474M Missense 13/28 - 1
7-87069658-C-T c.1417G>A p.G473S Missense 13/28 - 1
7-87069662-G-A c.1413C>T p.I471= Synonymous 13/28 - 3
7-87069667-C-T c.1408G>A p.E470K Missense 13/28 - 6
7-87069668-C-T c.1407G>A p.R469= Synonymous 13/28 - 2
7-87069670-T-G c.1405A>C p.R469= Synonymous 13/28 - 1
7-87069669-C-T c.1406G>A p.R469K Missense 13/28 - 1
7-87069670-T-A c.1405A>T p.R469W Missense 13/28 - 1
7-87069672-A-G c.1403T>C p.L468P Missense 13/28 - 1
7-87069672-A-T c.1403T>A p.L468Q Missense 13/28 - 1
7-87069674-A-C c.1401T>G p.Y467* Nonsense 13/28 - 1
7-87069674-A-T c.1401T>A p.Y467* Nonsense 13/28 - 1
7-87069675-T-A c.1400A>T p.Y467F Missense 13/28 - 1
7-87069682-C-T c.1393G>A p.V465I Missense 13/28 - 2
7-87069692-CCT-ACA c.1381_1383delinsTGT p.R461C Missense 13/28 - 1
7-87069693-C-A c.1382G>T p.R461M Missense 13/28 - 1
7-87069693-CT-GG c.1381_1382delinsCC p.R461P Missense 13/28 - 1
7-87069697-T-A c.1378A>T p.I460F Missense 13/28 - 1
7-87069700-C-A c.1375G>T p.D459Y Missense 13/28 - 3
7-87069700-C-G c.1375G>C p.D459H Missense 13/28 - 3
7-87069701-C-T c.1374G>A p.Q458= Synonymous 13/28 - 2
7-87069702-T-C c.1373A>G p.Q458R Missense 13/28 - 1
7-87069703-GC-G c.1371del p.Q458Rfs*8 Frameshift 13/28 - 1
7-87069706-C-G c.1369G>C p.G457R Missense 13/28 - 2
7-87069706-C-T c.1369G>A p.G457R Missense 13/28 - 2
7-87069709-C-G c.1366G>C p.D456H Missense 13/28 - 1
7-87069712-T-C c.1363A>G p.I455V Missense 13/28 - 1
7-87069758-T-C c.1357-40A>G - IntronicSNV - 12/27 6
7-87069880-T-C c.1357-162A>G - IntronicSNV - 12/27 3
7-87072226-C-T c.1356+409G>A - IntronicSNV - 12/27 1
7-87072442-GC-G c.1356+193del - IntronicDeletion - 12/27 1
7-87072550-G-T c.1356+85C>A - IntronicSNV - 12/27 1
7-87072556-T-C c.1356+79A>G - IntronicSNV - 12/27 1
7-87072609-T-C c.1356+26A>G - IntronicSNV - 12/27 1
7-87072635-T-C c.1356A>G p.T452= Synonymous 12/28 - 1
7-87072639-C-T c.1352G>A p.G451D Missense 12/28 - 1
7-87072642-T-C c.1349A>G p.E450G Missense 12/28 - 2
7-87072643-C-T c.1348G>A p.E450K Missense 12/28 - 2
7-87072645-T-C c.1346A>G p.D449G Missense 12/28 - 1
7-87072646-C-T c.1345G>A p.D449N Missense 12/28 - 3
7-87072654-T-C c.1337A>G p.Y446C Missense 12/28 - 1
7-87072654-TAG-T c.1335_1336del p.Y446* Frameshift 12/28 - 1
7-87072657-AG-CC c.1333_1334delinsGG p.L445G Missense 12/28 - 1
7-87072660-CT-TC c.1330_1331delinsGA p.R444E Missense 12/28 - 1
7-87072661-T-A c.1330A>T p.R444W Missense 12/28 - 1
7-87072659-C-CCT c.1330_1331dup p.L445Gfs*22 Frameshift 12/28 - 2
7-87072661-TCT-TTTG c.1328_1329delinsCAA p.Q443Pfs*5 Frameshift 12/28 - 1
7-87072662-C-A c.1329G>T p.Q443H Missense 12/28 - 1
7-87072662-CT-TTG c.1328_1329delinsCAA p.Q443Pfs*5 Frameshift 12/28 - 1
7-87072664-G-C c.1327C>G p.Q443E Missense 12/28 - 2
7-87072666-A-G c.1325T>C p.I442T Missense 12/28 - 1
7-87072669-A-C c.1322T>G p.L441R Missense 12/28 - 2
7-87072676-C-A c.1315G>T p.V439F Missense 12/28 - 3
7-87072677-C-A c.1314G>T p.T438= Synonymous 12/28 - 3
7-87072677-C-G c.1314G>C p.T438= Synonymous 12/28 - 1
7-87072677-C-T c.1314G>A p.T438= Synonymous 12/28 - 4
7-87072678-G-A c.1313C>T p.T438M Missense 12/28 - 2
7-87072682-T-G c.1309A>C p.T437P Missense 12/28 - 1
7-87072683-G-C c.1308C>G p.S436R Missense 12/28 - 1
7-87072683-G-T c.1308C>A p.S436R Missense 12/28 - 1
7-87072684-CT-GC c.1306_1307delinsGC p.S436A Missense 12/28 - 2
7-87072685-T-C c.1306A>G p.S436G Missense 12/28 - 2
7-87072687-T-A c.1304A>T p.K435M Missense 12/28 - 3
7-87072687-T-G c.1304A>C p.K435T Missense 12/28 - 5
7-87072686-C-CT c.1304dup p.S436Efs*12 Frameshift 12/28 - 1
7-87072688-T-C c.1303A>G p.K435E Missense 12/28 - 1
7-87072688-TTCCCACA-T c.1297_1303del p.C433Rfs*7 Frameshift 12/28 - 2
7-87072691-C-T c.1300G>A p.G434R Missense 12/28 - 1
7-87072689-CCCACAGCCACTACTTCCAACCAGGGCCACCGTCTG-C c.1267_1301del p.Q423Efs*13 Frameshift 12/28 - 1
7-87072692-A-C c.1299T>G p.C433W Missense 12/28 - 4
7-87072693-C-T c.1298G>A p.C433Y Missense 12/28 - 2
7-87072689-CCCACAG-C c.1296_1301del p.C433_G434del InFrameDeletion 12/28 - 1
7-87072697-C-T c.1294G>A p.G432S Missense 12/28 - 1
7-87072708-A-G c.1283T>C p.V428A Missense 12/28 - 1
7-87072708-A-T c.1283T>A p.V428D Missense 12/28 - 1
7-87072715-C-A c.1276G>T p.A426S Missense 12/28 - 1
7-87072716-C-A c.1275G>T p.V425= Synonymous 12/28 - 1
7-87072716-C-G c.1275G>C p.V425= Synonymous 12/28 - 1
7-87072716-C-T c.1275G>A p.V425= Synonymous 12/28 - 1
7-87072718-C-G c.1273G>C p.V425L Missense 12/28 - 1
7-87072718-C-T c.1273G>A p.V425M Missense 12/28 - 2
7-87072719-C-T c.1272G>A p.T424= Synonymous 12/28 - 1
7-87072721-T-C c.1270A>G p.T424A Missense 12/28 - 4
7-87072722-C-T c.1269G>A p.Q423= Synonymous 12/28 - 2
7-87072723-T-C c.1268A>G p.Q423R Missense 12/28 - 1
7-87072723-T-G c.1268A>C p.Q423P Missense 12/28 - 1
7-87072726-C-T c.1265G>A p.G422E Missense 12/28 - 1
7-87072733-G-A c.1258C>T p.Q420* Nonsense 12/28 - 1
7-87072740-C-A c.1251G>T p.L417= Synonymous 12/28 - 1
7-87072740-C-G c.1251G>C p.L417= Synonymous 12/28 - 1
7-87072740-C-T c.1251G>A p.L417= Synonymous 12/28 - 1
7-87072742-G-A c.1249C>T p.L417= Synonymous 12/28 - 1
7-87072742-G-C c.1249C>G p.L417V Missense 12/28 - 1
7-87072742-G-T c.1249C>A p.L417M Missense 12/28 - 1
7-87072744-T-A c.1247A>T p.N416I Missense 12/28 - 1
7-87072744-T-C c.1247A>G p.N416S Missense 12/28 - 1
7-87072748-G-A c.1243C>T p.L415F Missense 12/28 - 1
7-87072754-T-A c.1237A>T p.K413* Nonsense 12/28 - 2
7-87072755-C-A c.1236G>T p.L412F Missense 12/28 - 1
7-87072755-C-G c.1236G>C p.L412F Missense 12/28 - 1
7-87072756-A-G c.1235T>C p.L412S Missense 12/28 - 1
7-87072776-G-A c.1231-16C>T - IntronicSNV - 11/27 1
7-87072976-T-G c.1230+3A>C - IntronicSNV - 11/27 1
7-87072977-A-C c.1230+2T>G - IntronicSNV - 11/27 1
7-87072978-C-A c.1230+1G>T - IntronicSNV - 11/27 1
7-87072984-C-T c.1225G>A p.V409I Missense 11/28 - 1
7-87072990-C-G c.1219G>C p.A407P Missense 11/28 - 1
7-87072991-CT-C c.1218del p.A407Lfs*6 Frameshift 11/28 - 1
7-87072992-C-T c.1217G>A p.R406Q Missense 11/28 - 4
7-87072993-G-A c.1216C>T p.R406* Nonsense 11/28 - 3
7-87072993-G-C c.1216C>G p.R406G Missense 11/28 - 1
7-87072996-A-C c.1213T>G p.S405A Missense 11/28 - 1
7-87072999-G-C c.1210C>G p.P404A Missense 11/28 - 1
7-87073002-A-G c.1207T>C p.Y403H Missense 11/28 - 5
7-87073005-A-G c.1204T>C p.S402P Missense 11/28 - 1
7-87073006-A-C c.1203T>G p.F401L Missense 11/28 - 1
7-87073010-T-TGC c.1198_1199insGC p.H400Rfs*14 Frameshift 11/28 - 1
7-87073014-C-G c.1195G>C p.V399L Missense 11/28 - 2
7-87073014-C-T c.1195G>A p.V399I Missense 11/28 - 1
7-87073017-C-T c.1192G>A p.D398N Missense 11/28 - 1
7-87073019-T-C c.1190A>G p.N397S Missense 11/28 - 1
7-87073025-T-C c.1184A>G p.E395G Missense 11/28 - 3
7-87073028-A-C c.1181T>G p.L394W Missense 11/28 - 1
7-87073033-C-A c.1176G>T p.G392= Synonymous 11/28 - 1
7-87073034-C-A c.1175G>T p.G392V Missense 11/28 - 1
7-87073034-CC-TA c.1174_1175delinsTA p.G392* Nonsense 11/28 - 1
7-87073034-C-T c.1175G>A p.G392E Missense 11/28 - 2
7-87073035-C-A c.1174G>T p.G392W Missense 11/28 - 1
7-87073038-T-C c.1171A>G p.K391E Missense 11/28 - 2
7-87073039-G-C c.1170C>G p.I390M Missense 11/28 - 2
7-87073046-T-A c.1163A>T p.D388V Missense 11/28 - 1
7-87073050-G-A c.1159C>T p.P387S Missense 11/28 - 1
7-87073050-G-T c.1159C>A p.P387T Missense 11/28 - 1
7-87073053-T-C c.1156A>G p.K386E Missense 11/28 - 2
7-87073053-T-G c.1156A>C p.K386Q Missense 11/28 - 1
7-87073056-G-A c.1153C>T p.H385Y Missense 11/28 - 1
7-87073058-C-T c.1151G>A p.G384E Missense 11/28 - 1
7-87073059-C-G c.1150G>C p.G384R Missense 11/28 - 1
7-87073059-C-T c.1150G>A p.G384R Missense 11/28 - 2
7-87073060-TCT-CCA c.1147_1149delinsTGG p.R383W Missense 11/28 - 1
7-87073061-C-G c.1148G>C p.R383T Missense 11/28 - 1
7-87073065-C-T c.1144G>A p.E382K Missense 11/28 - 3
7-87073067-G-A c.1142C>T p.S381L Missense 11/28 - 3
7-87073067-GA-G c.1141del p.S381Qfs*32 Frameshift 11/28 - 1
7-87073072-ACT-TCA c.1135_1137delinsTGA p.S379* Nonsense 11/28 - 1
7-87073073-CT-AG c.1135_1136inv p.S379L Missense 11/28 - 1
7-87073078-A-G c.1131T>C p.I377= Synonymous 11/28 - 2
7-87073078-A-T c.1131T>A p.I377= Synonymous 11/28 - 1
7-87073077-C-CA c.1131dup p.D378* Nonsense 11/28 - 1
7-87073079-A-G c.1130T>C p.I377T Missense 11/28 - 1
7-87073079-A-T c.1130T>A p.I377N Missense 11/28 - 4
7-87073080-T-C c.1129A>G p.I377V Missense 11/28 - 1
7-87073085-G-A c.1124C>T p.P375L Missense 11/28 - 2
7-87073085-G-T c.1124C>A p.P375H Missense 11/28 - 1
7-87073086-G-A c.1123C>T p.P375S Missense 11/28 - 1
7-87073087-A-G c.1122T>C p.N374= Synonymous 11/28 - 1
7-87073775-G-T c.1119+403C>A - IntronicSNV - 10/27 15
7-87073865-G-GT c.1119+312dup - IntronicInsertion - 10/27 1
7-87074173-C-T c.1119+5G>A - IntronicSNV - 10/27 1
7-87074177-C-A c.1119+1G>T - IntronicSNV - 10/27 1
7-87074177-C-T c.1119+1G>A - IntronicSNV - 10/27 1
7-87074178-CATTATCAATAATATCAAAGATCACATATGCTGCTCCTCTTGCATTGGCAAAAGCATCAA-C c.1061_1119del p.I354Kfs*3 InFrameDeletion 10/28 - 1
7-87074179-T-C c.1118A>G p.N373S Missense 10/28 - 1
7-87074187-A-G c.1110T>C p.I370= Synonymous 10/28 - 1
7-87074187-A-T c.1110T>A p.I370= Synonymous 10/28 - 1
7-87074188-A-T c.1109T>A p.I370N Missense 10/28 - 2
7-87074192-C-T c.1105G>A p.D369N Missense 10/28 - 1
7-87074196-G-A c.1101C>T p.I367= Synonymous 10/28 - 1
7-87074196-G-T c.1101C>A p.I367= Synonymous 10/28 - 1
7-87074197-A-T c.1100T>A p.I367N Missense 10/28 - 1
7-87074198-T-C c.1099A>G p.I367V Missense 10/28 - 2
7-87074201-C-G c.1096G>C p.V366L Missense 10/28 - 1
7-87074203-T-C c.1094A>G p.Y365C Missense 10/28 - 1
7-87074204-A-G c.1093T>C p.Y365H Missense 10/28 - 3
7-87074206-G-A c.1091C>T p.A364V Missense 10/28 - 3
7-87074207-C-A c.1090G>T p.A364S Missense 10/28 - 1
7-87074212-C-A c.1085G>T p.G362V Missense 10/28 - 1
7-87074214-T-A c.1083A>T p.R361S Missense 10/28 - 1
7-87074214-T-G c.1083A>C p.R361S Missense 10/28 - 1
7-87074215-C-G c.1082G>C p.R361T Missense 10/28 - 1
7-87074218-G-A c.1079C>T p.A360V Missense 10/28 - 1
7-87074221-T-C c.1076A>G p.N359S Missense 10/28 - 1
7-87074224-G-C c.1073C>G p.A358G Missense 10/28 - 1
7-87074225-C-T c.1072G>A p.A358T Missense 10/28 - 1
7-87074226-A-C c.1071T>G p.F357L Missense 10/28 - 3
7-87074226-A-T c.1071T>A p.F357L Missense 10/28 - 2
7-87074228-A-G c.1069T>C p.F357L Missense 10/28 - 2
7-87074231-C-T c.1066G>A p.A356T Missense 10/28 - 1
7-87074232-ATC-TTA c.1063_1065delinsTAA p.D355* Nonsense 10/28 - 1
7-87074233-T-C c.1064A>G p.D355G Missense 10/28 - 1
7-87074234-C-G c.1063G>C p.D355H Missense 10/28 - 1
7-87074234-C-T c.1063G>A p.D355N Missense 10/28 - 1
7-87074238-A-C c.1059T>G p.C353W Missense 10/28 - 1
7-87074239-C-G c.1058G>C p.C353S Missense 10/28 - 2
7-87074240-A-T c.1057T>A p.C353S Missense 10/28 - 3
7-87074242-G-A c.1055C>T p.P352L Missense 10/28 - 1
7-87074252-G-A c.1045C>T p.Q349* Nonsense 10/28 - 1
7-87074255-C-T c.1042G>A p.G348S Missense 10/28 - 1
7-87074258-C-T c.1039G>A p.V347I Missense 10/28 - 1
7-87074260-C-A c.1037G>T p.S346I Missense 10/28 - 5
7-87074260-C-T c.1037G>A p.S346N Missense 10/28 - 1
7-87074260-CT-AG c.1036_1037inv p.S346L Missense 10/28 - 2
7-87074267-C-A c.1030G>T p.A344S Missense 10/28 - 1
7-87074270-C-T c.1027G>A p.G343R Missense 10/28 - 1
7-87074274-T-G c.1023A>C p.L341= Synonymous 10/28 - 1
7-87074277-G-A c.1020C>T p.I340= Synonymous 10/28 - 1
7-87074280-TG-AA c.1016_1017delinsTT p.S339F Missense 10/28 - 1
7-87074280-T-TA c.1016_1017insT p.I340Nfs*16 Frameshift 10/28 - 1
7-87074281-G-A c.1016C>T p.S339L Missense 10/28 - 1
7-87074281-GA-TG c.1015_1016delinsCA p.S339Q Missense 10/28 - 1
7-87074281-G-C c.1016C>G p.S339* Nonsense 10/28 - 1
7-87074281-G-T c.1016C>A p.S339* Nonsense 10/28 - 2
7-87074281-TG-T c.1016del p.S339* Frameshift 10/28 - 1
7-87074282-A-G c.1015T>C p.S339P Missense 10/28 - 2
7-87074281-GA-G c.1015del p.S339Qfs*3 Frameshift 10/28 - 8
7-87074281-G-GA c.1015dup p.S339Ffs*17 Frameshift 10/28 - 12
7-87074291-C-A c.1006G>T p.V336F Missense 10/28 - 4
7-87074419-T-C c.1006-128A>G - IntronicSNV - 9/27 4
7-87074964-T-C c.1006-673A>G - IntronicSNV - 9/27 2
7-87076144-C-T c.1005+206G>A - IntronicSNV - 9/27 1
7-87076274-G-A c.1005+76C>T - IntronicSNV - 9/27 1
7-87076345-C-T c.1005+5G>A - IntronicSNV - 9/27 1
7-87076349-C-T c.1005+1G>A - IntronicSNV - 9/27 1
7-87076351-G-C c.1004C>G p.T335R Missense 9/28 - 1
7-87076356-TGC-CAT c.997_999delinsATG p.A333M Missense 9/28 - 1
7-87076357-G-A c.998C>T p.A333V Missense 9/28 - 1
7-87076371-A-C c.984T>G p.Y328* Nonsense 9/28 - 1
7-87076371-A-G c.984T>C p.Y328= Synonymous 9/28 - 1
7-87076371-A-T c.984T>A p.Y328* Nonsense 9/28 - 1
7-87076372-T-G c.983A>C p.Y328S Missense 9/28 - 1
7-87076376-C-T c.979G>A p.E327K Missense 9/28 - 1
7-87076381-G-C c.974C>G p.S325* Nonsense 9/28 - 1
7-87076381-G-T c.974C>A p.S325* Nonsense 9/28 - 1
7-87076382-A-G c.973T>C p.S325P Missense 9/28 - 1
7-87076382-A-T c.973T>A p.S325T Missense 9/28 - 1
7-87076385-T-G c.970A>C p.I324L Missense 9/28 - 1
7-87076386-G-C c.969C>G p.V323= Synonymous 9/28 - 1
7-87076387-A-C c.968T>G p.V323G Missense 9/28 - 1
7-87076390-A-G c.965T>C p.L322P Missense 9/28 - 1
7-87076396-G-A c.959C>T p.S320F Missense 9/28 - 27
7-87076397-A-G c.958T>C p.S320P Missense 9/28 - 1
7-87076399-C-G c.956G>C p.G319A Missense 9/28 - 1
7-87076400-C-G c.955G>C p.G319R Missense 9/28 - 1
7-87076400-C-T c.955G>A p.G319R Missense 9/28 - 1
7-87076404-C-T c.951G>A p.W317* Nonsense 9/28 - 1
7-87076405-C-T c.950G>A p.W317* Nonsense 9/28 - 1
7-87076412-C-T c.943G>A p.A315T Missense 9/28 - 1
7-87076415-G-T c.940C>A p.L314M Missense 9/28 - 2
7-87076418-C-A c.937G>T p.A313S Missense 9/28 - 2
7-87076418-C-G c.937G>C p.A313P Missense 9/28 - 1
7-87076421-A-T c.934T>A p.Y312N Missense 9/28 - 1
7-87076440-G-A c.915C>T p.F305= Synonymous 9/28 - 1
7-87076444-G-T c.911C>A p.A304D Missense 9/28 - 2
7-87076450-C-G c.905G>C p.G302A Missense 9/28 - 1
7-87076450-C-T c.905G>A p.G302D Missense 9/28 - 1
7-87076453-A-G c.902T>C p.M301T Missense 9/28 - 3
7-87076455-G-A c.900C>T p.S300= Synonymous 9/28 - 1
7-87076456-G-T c.899C>A p.S300Y Missense 9/28 - 1
7-87076461-G-A c.894C>T p.N298= Synonymous 9/28 - 1
7-87076461-GT-G c.893del p.N298Tfs*10 Frameshift 9/28 - 1
7-87076466-C-T c.889G>A p.A297T Missense 9/28 - 1
7-87076468-G-A c.887C>T p.S296L Missense 9/28 - 2
7-87076469-A-G c.886T>C p.S296P Missense 9/28 - 1
7-87076474-GC-AG c.880_881delinsCT p.A294L Missense 9/28 - 1
7-87076476-T-A c.879A>T p.K293N Missense 9/28 - 1
7-87076475-C-CT c.879dup p.A294Sfs*62 Frameshift 9/28 - 2
7-87076475-CT-C c.879del p.A294Lfs*14 Frameshift 9/28 - 1
7-87076481-T-A c.874A>T p.K292* Nonsense 9/28 - 3
7-87076493-C-A c.862G>T p.E288* Nonsense 9/28 - 1
7-87076497-G-A c.858C>T p.A286= Synonymous 9/28 - 1
7-87076498-G-A c.857C>T p.A286V Missense 9/28 - 6
7-87076505-C-T c.850G>A p.E284K Missense 9/28 - 1
7-87076507-A-G c.848T>C p.L283S Missense 9/28 - 2
7-87076513-T-G c.842A>C p.K281T Missense 9/28 - 1
7-87076515-C-T c.840G>A p.Q280= Synonymous 9/28 - 1
7-87076517-G-A c.838C>T p.Q280* Nonsense 9/28 - 1
7-87076517-G-T c.838C>A p.Q280K Missense 9/28 - 1
7-87076520-A-G c.835T>C p.Y279H Missense 9/28 - 3
7-87076521-C-T c.834G>A p.R278= Synonymous 9/28 - 4
7-87076587-C-A c.834-66G>T - IntronicSNV - 8/27 3
7-87076587-C-T c.834-66G>A - IntronicSNV - 8/27 3
7-87079069-T-C c.833+215A>G - IntronicSNV - 8/27 5
7-87079103-T-A c.833+181A>T - IntronicSNV - 8/27 2
7-87079278-C-T c.833+6G>A - IntronicSNV - 8/27 2
7-87079279-C-T c.833+5G>A - IntronicSNV - 8/27 1
7-87079284-C-T c.833G>A p.R278K Missense 8/28 - 1
7-87079284-CT-TG c.832_833delinsCA p.R278Q Missense 8/28 - 1
7-87079291-G-A c.826C>T p.L276= Synonymous 8/28 - 1
7-87079292-C-A c.825G>T p.E275D Missense 8/28 - 1
7-87079294-C-A c.823G>T p.E275* Nonsense 8/28 - 1
7-87079299-T-C c.818A>G p.N273S Missense 8/28 - 1
7-87079302-TG-T c.814del p.Q272Rfs*12 Frameshift 8/28 - 1
7-87079304-G-A c.813C>T p.G271= Synonymous 8/28 - 2
7-87079306-C-T c.811G>A p.G271S Missense 8/28 - 1
7-87079307-C-A c.810G>T p.G270= Synonymous 8/28 - 1
7-87079307-C-G c.810G>C p.G270= Synonymous 8/28 - 1
7-87079307-C-T c.810G>A p.G270= Synonymous 8/28 - 1
7-87079308-C-A c.809G>T p.G270V Missense 8/28 - 1
7-87079309-C-A c.808G>T p.G270W Missense 8/28 - 1
7-87079309-C-G c.808G>C p.G270R Missense 8/28 - 1
7-87079309-C-T c.808G>A p.G270R Missense 8/28 - 2
7-87079310-G-A c.807C>T p.F269= Synonymous 8/28 - 5
7-87079314-G-A c.803C>T p.A268V Missense 8/28 - 2
7-87079314-G-C c.803C>G p.A268G Missense 8/28 - 1
7-87079315-C-T c.802G>A p.A268T Missense 8/28 - 1
7-87079318-T-A c.799A>T p.I267L Missense 8/28 - 1
7-87079321-C-T c.796G>A p.V266M Missense 8/28 - 1
7-87079323-G-A c.794C>T p.T265I Missense 8/28 - 1
7-87079324-T-C c.793A>G p.T265A Missense 8/28 - 1
7-87079330-T-C c.787A>G p.I263V Missense 8/28 - 4
7-87079335-C-A c.782G>T p.G261V Missense 8/28 - 1
7-87079341-G-A c.776C>T p.A259V Missense 8/28 - 1
7-87079344-T-G c.773A>C p.E258A Missense 8/28 - 1
7-87079348-C-T c.769G>A p.E257K Missense 8/28 - 1
7-87079349-T-A c.768A>T p.A256= Synonymous 8/28 - 1
7-87079350-G-T c.767C>A p.A256E Missense 8/28 - 2
7-87079352-C-A c.765G>T p.V255= Synonymous 8/28 - 1
7-87079352-C-G c.765G>C p.V255= Synonymous 8/28 - 1
7-87079352-C-T c.765G>A p.V255= Synonymous 8/28 - 1
7-87079354-C-T c.763G>A p.V255M Missense 8/28 - 4
7-87079356-G-A c.761C>T p.A254V Missense 8/28 - 3
7-87079357-C-T c.760G>A p.A254T Missense 8/28 - 7
7-87079358-G-A c.759C>T p.G253= Synonymous 8/28 - 1
7-87079358-G-C c.759C>G p.G253= Synonymous 8/28 - 1
7-87079358-G-T c.759C>A p.G253= Synonymous 8/28 - 1
7-87079361-T-A c.756A>T p.A252= Synonymous 8/28 - 1
7-87079363-C-T c.754G>A p.A252T Missense 8/28 - 1
7-87079363-GC-G c.754del p.A252Qfs*15 Frameshift 8/28 - 1
7-87079363-CT-C c.753del p.A252Qfs*15 Frameshift 8/28 - 2
7-87079367-T-A c.750A>T p.A250= Synonymous 8/28 - 1
7-87079367-T-C c.750A>G p.A250= Synonymous 8/28 - 1
7-87079367-T-G c.750A>C p.A250= Synonymous 8/28 - 2
7-87079369-C-G c.748G>C p.A250P Missense 8/28 - 1
7-87079369-C-T c.748G>A p.A250T Missense 8/28 - 1
7-87079373-A-C c.744T>G p.A248= Synonymous 8/28 - 1
7-87079375-C-T c.742G>A p.A248T Missense 8/28 - 1
7-87079377-G-A c.740C>T p.A247V Missense 8/28 - 1
7-87079386-T-C c.731A>G p.K244R Missense 8/28 - 4
7-87079389-T-G c.728A>C p.D243A Missense 8/28 - 5
7-87079392-C-G c.725G>C p.S242T Missense 8/28 - 1
7-87079392-C-T c.725G>A p.S242N Missense 8/28 - 4
7-87079394-A-G c.723T>C p.F241= Synonymous 8/28 - 1
7-87079397-TGC-AAA c.718_720delinsTTT p.A240F Missense 8/28 - 1
7-87079398-GC-TA c.718_719delinsTA p.A240* Nonsense 8/28 - 1
7-87079399-C-A c.718G>T p.A240S Missense 8/28 - 1
7-87079400-C-A c.717G>T p.S239= Synonymous 8/28 - 1
7-87079400-CG-AC c.716_717delinsGT p.S239C Missense 8/28 - 1
7-87079400-C-T c.717G>A p.S239= Synonymous 8/28 - 1
7-87079401-G-A c.716C>T p.S239L Missense 8/28 - 3
7-87079403-G-A c.714C>T p.L238= Synonymous 8/28 - 1
7-87079403-G-C c.714C>G p.L238= Synonymous 8/28 - 1
7-87079403-G-T c.714C>A p.L238= Synonymous 8/28 - 1
7-87079404-A-T c.713T>A p.L238H Missense 8/28 - 1
7-87079405-G-A c.712C>T p.L238F Missense 8/28 - 2
7-87079405-G-C c.712C>G p.L238V Missense 8/28 - 7
7-87079406-T-A c.711A>T p.I237= Synonymous 8/28 - 36
7-87079406-T-G c.711A>C p.I237= Synonymous 8/28 - 5
7-87079407-A-G c.710T>C p.I237T Missense 8/28 - 1
7-87079407-A-T c.710T>A p.I237K Missense 8/28 - 2
7-87079602-G-C c.709-194C>G - IntronicSNV - 7/27 4
7-87080698-T-C c.708+241A>G - IntronicSNV - 7/27 2
7-87080938-C-A c.708+1G>T - IntronicSNV - 7/27 1
7-87080939-C-T c.708G>A p.K236= Synonymous 7/28 - 2
7-87080942-T-C c.705A>G p.A235= Synonymous 7/28 - 1
7-87080945-C-A c.702G>T p.W234C Missense 7/28 - 1
7-87080948-A-C c.699T>G p.V233= Synonymous 7/28 - 1
7-87080950-C-T c.697G>A p.V233I Missense 7/28 - 2
7-87080951-G-A c.696C>T p.A232= Synonymous 7/28 - 6
7-87080955-G-A c.692C>T p.A231V Missense 7/28 - 1
7-87080958-G-A c.689C>T p.S230F Missense 7/28 - 1
7-87080962-AGT-A c.684_685del p.S230Cfs*12 Frameshift 7/28 - 1
7-87080962-G-A c.685C>T p.L229F Missense 7/28 - 1
7-87080964-C-G c.683G>C p.G228A Missense 7/28 - 3
7-87080965-C-G c.682G>C p.G228R Missense 7/28 - 2
7-87080965-C-T c.682G>A p.G228R Missense 7/28 - 2
7-87080971-T-C c.676A>G p.I226V Missense 7/28 - 1
7-87080972-AGG-TTA c.673_675delinsTAA p.P225* Nonsense 7/28 - 1
7-87080973-G-A c.674C>T p.P225L Missense 7/28 - 1
7-87080973-G-C c.674C>G p.P225R Missense 7/28 - 1
7-87080973-GG-AA c.673_674delinsTT p.P225F Missense 7/28 - 1
7-87080974-G-T c.673C>A p.P225T Missense 7/28 - 1
7-87080975-G-T c.672C>A p.S224R Missense 7/28 - 1
7-87080980-T-C c.667A>G p.I223V Missense 7/28 - 2
7-87080981-G-A c.666C>T p.A222= Synonymous 7/28 - 1
7-87080981-G-C c.666C>G p.A222= Synonymous 7/28 - 1
7-87080981-G-T c.666C>A p.A222= Synonymous 7/28 - 1
7-87080982-G-A c.665C>T p.A222V Missense 7/28 - 2
7-87080983-C-T c.664G>A p.A222T Missense 7/28 - 3
7-87080985-A-G c.662T>C p.M221T Missense 7/28 - 1
7-87080986-T-A c.661A>T p.M221L Missense 7/28 - 2
7-87080990-C-T c.657G>A p.V219= Synonymous 7/28 - 1
7-87080992-C-A c.655G>T p.V219L Missense 7/28 - 1
7-87080992-C-CTTA c.654_655insTAA p.L218_V219ins* InFrameInsertion 7/28 - 1
7-87080992-C-G c.655G>C p.V219L Missense 7/28 - 1
7-87080992-C-T c.655G>A p.V219M Missense 7/28 - 1
7-87080995-G-A c.652C>T p.L218F Missense 7/28 - 3
7-87080994-AG-A c.652del p.V219* Frameshift 7/28 - 1
7-87080997-G-A c.650C>T p.T217I Missense 7/28 - 3
7-87080998-T-A c.649A>T p.T217S Missense 7/28 - 1
7-87081001-G-A c.646C>T p.L216F Missense 7/28 - 2
7-87081004-T-G c.643A>C p.K215Q Missense 7/28 - 1
7-87081005-C-T c.642G>A p.W214* Nonsense 7/28 - 2
7-87081006-C-T c.641G>A p.W214* Nonsense 7/28 - 5
7-87081012-C-G c.635G>C p.R212T Missense 7/28 - 2
7-87081016-T-A c.631A>T p.I211F Missense 7/28 - 1
7-87081022-C-T c.625G>A p.G209R Missense 7/28 - 1
7-87081025-C-A c.622G>T p.V208L Missense 7/28 - 1
7-87081027-A-C c.620T>G p.I207R Missense 7/28 - 1
7-87081031-A-T c.616T>A p.F206I Missense 7/28 - 1
7-87081034-C-A c.613G>T p.G205* Nonsense 7/28 - 1
7-87081035-TGC-ACA c.610_612delinsTGT p.A204C Missense 7/28 - 1
7-87081036-G-GA c.610_611insT p.A204Vfs*39 Frameshift 7/28 - 1
7-87081037-C-T c.610G>A p.A204T Missense 7/28 - 4
7-87081039-A-G c.608T>C p.F203S Missense 7/28 - 1
7-87081037-C-CA c.609dup p.A204Cfs*39 Frameshift 7/28 - 1
7-87081043-A-C c.604T>G p.F202V Missense 7/28 - 1
7-87081044-CG-GA c.602_603delinsTC p.T201I Missense 7/28 - 1
7-87081045-G-A c.602C>T p.T201M Missense 7/28 - 2
7-87081045-G-T c.602C>A p.T201K Missense 7/28 - 1
7-87081052-C-T c.595G>A p.V199I Missense 7/28 - 1
7-87081054-G-C c.593C>G p.A198G Missense 7/28 - 1
7-87081054-G-T c.593C>A p.A198E Missense 7/28 - 1
7-87081055-C-G c.592G>C p.A198P Missense 7/28 - 1
7-87081062-G-A c.585C>T p.F195= Synonymous 7/28 - 1
7-87081069-C-T c.578G>A p.G193E Missense 7/28 - 2
7-87081070-C-T c.577G>A p.G193R Missense 7/28 - 1
7-87081072-A-T c.575T>A p.V192D Missense 7/28 - 4
7-87081073-C-A c.574G>T p.V192F Missense 7/28 - 2
7-87081074-C-T c.573G>A p.K191= Synonymous 7/28 - 1
7-87081080-A-C c.567T>G p.G189= Synonymous 7/28 - 2
7-87081080-A-G c.567T>C p.G189= Synonymous 7/28 - 3
7-87081080-A-T c.567T>A p.G189= Synonymous 7/28 - 2
7-87081085-T-A c.562A>T p.I188F Missense 7/28 - 1
7-87081085-T-C c.562A>G p.I188V Missense 7/28 - 1
7-87081087-C-A c.560G>T p.G187V Missense 7/28 - 1
7-87081099-T-C c.548A>G p.K183R Missense 7/28 - 2
7-87081106-T-C c.541A>G p.I181V Missense 7/28 - 1
7-87081108-T-A c.539A>T p.D180V Missense 7/28 - 3
7-87081108-T-C c.539A>G p.D180G Missense 7/28 - 2
7-87081349-A-G c.537-239T>C - IntronicSNV - 6/27 1
7-87082042-A-G c.536+218T>C - IntronicSNV - 6/27 1
7-87082254-A-G c.536+6T>C - IntronicSNV - 6/27 1
7-87082261-C-T c.535G>A p.D179N Missense 6/28 - 1
7-87082269-CG-TA c.526_527delinsTA p.R176* Nonsense 6/28 - 1
7-87082269-C-T c.527G>A p.R176Q Missense 6/28 - 2
7-87082270-G-A c.526C>T p.R176W Missense 6/28 - 3
7-87082272-G-A c.524C>T p.T175M Missense 6/28 - 3
7-87082272-GT-AC c.523_524inv p.T175V Missense 6/28 - 2
7-87082273-T-C c.523A>G p.T175A Missense 6/28 - 30
7-87082282-C-T c.514G>A p.E172K Missense 6/28 - 2
7-87082285-T-C c.511A>G p.T171A Missense 6/28 - 1
7-87082292-G-A c.504C>T p.N168= Synonymous 6/28 - 44
7-87082293-T-A c.503A>T p.N168I Missense 6/28 - 1
7-87082291-CGTTGAT-C c.499_504del p.I167_N168del InFrameDeletion 6/28 - 1
7-87082295-G-C c.501C>G p.I167M Missense 6/28 - 1
7-87082298-G-A c.498C>T p.D166= Synonymous 6/28 - 1
7-87082301-A-T c.495T>A p.F165L Missense 6/28 - 1
7-87082303-A-T c.493T>A p.F165I Missense 6/28 - 4
7-87082306-A-C c.490T>G p.W164G Missense 6/28 - 1
7-87082308-C-A c.488G>T p.G163V Missense 6/28 - 1
7-87082308-C-G c.488G>C p.G163A Missense 6/28 - 1
7-87082311-A-T c.485T>A p.I162K Missense 6/28 - 1
7-87082314-T-C c.482A>G p.E161G Missense 6/28 - 2
7-87082315-C-G c.481G>C p.E161Q Missense 6/28 - 1
7-87082319-TCG-ACA c.475_477delinsTGT p.R159C Missense 6/28 - 1
7-87082320-C-T c.476G>A p.R159Q Missense 6/28 - 3
7-87082321-G-A c.475C>T p.R159* Nonsense 6/28 - 14
7-87082323-A-C c.473T>G p.L158R Missense 6/28 - 1
7-87082327-T-C c.469A>G p.I157V Missense 6/28 - 1
7-87082327-T-G c.469A>C p.I157L Missense 6/28 - 1
7-87082328-A-G c.468T>C p.A156= Synonymous 6/28 - 1
7-87082329-G-A c.467C>T p.A156V Missense 6/28 - 1
7-87082332-T-A c.464A>T p.H155L Missense 6/28 - 1
7-87082333-G-A c.463C>T p.H155Y Missense 6/28 - 6
7-87082333-TG-T c.463del p.H155Mfs*8 Frameshift 6/28 - 2
7-87082335-A-G c.461T>C p.F154S Missense 6/28 - 2
7-87082336-A-C c.460T>G p.F154V Missense 6/28 - 1
7-87082337-A-G c.459T>C p.F153= Synonymous 6/28 - 5
7-87082333-GA-G c.462del p.H155Mfs*8 Frameshift 6/28 - 1
7-87082340-C-A c.456G>T p.K152N Missense 6/28 - 2
7-87082340-C-G c.456G>C p.K152N Missense 6/28 - 2
7-87082344-TG-AT c.451_452delinsAT p.Q151M Missense 6/28 - 1
7-87082345-G-C c.451C>G p.Q151E Missense 6/28 - 1
7-87082346-C-T c.450G>A p.R150= Synonymous 6/28 - 1
7-87082347-C-T c.449G>A p.R150K Missense 6/28 - 5
7-87082347-CT-TG c.448_449delinsCA p.R150Q Missense 6/28 - 1
7-87082351-T-A c.445A>T p.I149F Missense 6/28 - 3
7-87082355-C-T c.441G>A p.R147= Synonymous 6/28 - 1
7-87082357-T-G c.439A>C p.R147= Synonymous 6/28 - 1
7-87082356-C-A c.440G>T p.R147M Missense 6/28 - 1
7-87082356-CT-TA c.439_440delinsTA p.R147* Nonsense 6/28 - 1
7-87082362-TG-GC c.433_434delinsGC p.Q145A Missense 6/28 - 1
7-87082365-C-T c.431G>A p.R144Q Missense 6/28 - 1
7-87082366-G-A c.430C>T p.R144* Nonsense 6/28 - 15
7-87082366-G-C c.430C>G p.R144G Missense 6/28 - 4
7-87082368-C-G c.428G>C p.G143A Missense 6/28 - 5
7-87082369-C-A c.427G>T p.G143C Missense 6/28 - 1
7-87082371-G-A c.425C>T p.A142V Missense 6/28 - 1
7-87082372-C-A c.424G>T p.A142S Missense 6/28 - 1
7-87082375-C-T c.421G>A p.A141T Missense 6/28 - 1
7-87082377-AA-CT c.418_419delinsAG p.L140R Missense 6/28 - 1
7-87082380-G-A c.416C>T p.T139I Missense 6/28 - 2
7-87082381-T-C c.415A>G p.T139A Missense 6/28 - 1
7-87082382-C-T c.414G>A p.W138* Nonsense 6/28 - 5
7-87082383-C-A c.413G>T p.W138L Missense 6/28 - 1
7-87082383-C-T c.413G>A p.W138* Nonsense 6/28 - 4
7-87082384-A-G c.412T>C p.W138R Missense 6/28 - 2
7-87082384-A-T c.412T>A p.W138R Missense 6/28 - 2
7-87082389-G-A c.407C>T p.S136L Missense 6/28 - 3
7-87082392-A-G c.404T>C p.V135A Missense 6/28 - 1
7-87082393-C-T c.403G>A p.V135I Missense 6/28 - 1
7-87082396-G-A c.400C>T p.Q134* Nonsense 6/28 - 1
7-87082395-TGTATATA-T c.394_400del p.Y132Kfs*29 Frameshift 6/28 - 1
7-87082398-A-G c.398T>C p.I133T Missense 6/28 - 2
7-87082401-T-A c.395A>T p.Y132F Missense 6/28 - 1
7-87082402-A-G c.394T>C p.Y132H Missense 6/28 - 1
7-87082404-G-C c.392C>G p.A131G Missense 6/28 - 1
7-87082405-C-A c.391G>T p.A131S Missense 6/28 - 1
7-87082415-AAC-CAT c.379_381delinsATG p.V127M Missense 6/28 - 2
7-87082419-C-T c.377G>A p.G126E Missense 6/28 - 6
7-87082422-G-A c.374C>T p.A125V Missense 6/28 - 2
7-87082422-G-T c.374C>A p.A125D Missense 6/28 - 1
7-87082426-C-A c.370G>T p.G124C Missense 6/28 - 1
7-87082426-C-T c.370G>A p.G124S Missense 6/28 - 1
7-87082427-C-A c.369G>T p.L123F Missense 6/28 - 4
7-87082427-C-G c.369G>C p.L123F Missense 6/28 - 3
7-87082431-C-T c.365G>A p.G122E Missense 6/28 - 1
7-87082432-C-G c.364G>C p.G122R Missense 6/28 - 1
7-87082436-G-A c.360C>T p.Y120= Synonymous 6/28 - 2
7-87082441-A-C c.355T>G p.Y119D Missense 6/28 - 1
7-87082449-T-C c.347A>G p.Y116C Missense 6/28 - 1
7-87082624-C-T c.345-173G>A - IntronicSNV - 5/27 1
7-87083628-G-A c.344+223C>T - IntronicSNV - 5/27 1
7-87083738-T-C c.344+113A>G - IntronicSNV - 5/27 2
7-87083851-C-A c.344G>T p.R115I Missense 5/28 - 2
7-87083858-T-C c.337A>G p.M113V Missense 5/28 - 2
7-87083861-C-A c.334G>T p.E112* Nonsense 5/28 - 1
7-87083861-C-G c.334G>C p.E112Q Missense 5/28 - 1
7-87083861-C-T c.334G>A p.E112K Missense 5/28 - 2
7-87083864-C-T c.331G>A p.E111K Missense 5/28 - 1
7-87083865-T-C c.330A>G p.E110= Synonymous 5/28 - 1
7-87083867-C-A c.328G>T p.E110* Nonsense 5/28 - 1
7-87083873-T-A c.322A>T p.I108F Missense 5/28 - 1
7-87083876-T-C c.319A>G p.K107E Missense 5/28 - 1
7-87083878-C-A c.317G>T p.G106V Missense 5/28 - 1
7-87083878-C-T c.317G>A p.G106D Missense 5/28 - 1
7-87083881-G-A c.314C>T p.P105L Missense 5/28 - 1
7-87083882-G-A c.313C>T p.P105S Missense 5/28 - 4
7-87083889-C-T c.306G>A p.L102= Synonymous 5/28 - 1
7-87083892-C-A c.303G>T p.S101= Synonymous 5/28 - 1
7-87083892-C-G c.303G>C p.S101= Synonymous 5/28 - 1
7-87083892-C-T c.303G>A p.S101= Synonymous 5/28 - 2
7-87083893-G-A c.302C>T p.S101L Missense 5/28 - 2
7-87083894-GA-G c.301del p.S101Rfs*3 Frameshift 5/28 - 1
7-87083895-C-T c.300G>A p.L100= Synonymous 5/28 - 2
7-87083897-A-G c.298T>C p.L100= Synonymous 5/28 - 1
7-87083897-A-T c.298T>A p.L100M Missense 5/28 - 1
7-87083898-GG-TT c.296_297delinsAA p.S99* Nonsense 5/28 - 1
7-87083899-G-A c.296C>T p.S99F Missense 5/28 - 3
7-87083899-G-C c.296C>G p.S99C Missense 5/28 - 1
7-87083900-A-C c.295T>G p.S99A Missense 5/28 - 1
7-87083900-A-G c.295T>C p.S99P Missense 5/28 - 1
7-87083903-A-C c.292T>G p.F98V Missense 5/28 - 2
7-87083904-G-A c.291C>T p.N97= Synonymous 5/28 - 1
7-87083904-GTT-TTG c.289_291delinsCAA p.N97Q Missense 5/28 - 1
7-87083905-T-G c.290A>C p.N97T Missense 5/28 - 1
7-87083907-C-A c.288G>T p.V96= Synonymous 5/28 - 1
7-87083907-CA-GT c.287_288delinsAC p.V96D Missense 5/28 - 1
7-87083907-C-T c.288G>A p.V96= Synonymous 5/28 - 2
7-87083909-C-T c.287-1G>A - IntronicSNV - 4/27 1
7-87084403-A-G c.287-495T>C - IntronicSNV - 4/27 1
7-87084772-T-C c.287-864A>G - IntronicSNV - 4/27 1
7-87085182-T-C c.287-1274A>G - IntronicSNV - 4/27 1
7-87085209-G-A c.287-1301C>T - IntronicSNV - 4/27 1
7-87086039-A-C c.287-2131T>G - IntronicSNV - 4/27 1
7-87086039-A-G c.287-2131T>C - IntronicSNV - 4/27 1
7-87086090-T-A c.287-2182A>T - IntronicSNV - 4/27 1
7-87086090-T-C c.287-2182A>G - IntronicSNV - 4/27 1
7-87086114-G-A c.287-2206C>T - IntronicSNV - 4/27 1
7-87086114-G-T c.287-2206C>A - IntronicSNV - 4/27 1
7-87086140-C-A c.287-2232G>T - IntronicSNV - 4/27 1
7-87086140-C-T c.287-2232G>A - IntronicSNV - 4/27 1
7-87086144-G-A c.287-2236C>T - IntronicSNV - 4/27 1
7-87086931-T-C c.287-3023A>G - IntronicSNV - 4/27 1
7-87087025-A-G c.287-3117T>C - IntronicSNV - 4/27 1
7-87087187-G-T c.287-3279C>A - IntronicSNV - 4/27 1
7-87087397-C-G c.287-3489G>C - IntronicSNV - 4/27 2
7-87087397-C-T c.287-3489G>A - IntronicSNV - 4/27 2
7-87087834-A-T c.287-3926T>A - IntronicSNV - 4/27 1
7-87088772-A-G c.286+3302T>C - IntronicSNV - 4/27 1
7-87089524-T-C c.286+2550A>G - IntronicSNV - 4/27 1
7-87089898-C-T c.286+2176G>A - IntronicSNV - 4/27 1
7-87089927-G-A c.286+2147C>T - IntronicSNV - 4/27 1
7-87090286-T-A c.286+1788A>T - IntronicSNV - 4/27 1
7-87090301-C-T c.286+1773G>A - IntronicSNV - 4/27 1
7-87090480-C-T c.286+1594G>A - IntronicSNV - 4/27 2
7-87090481-G-A c.286+1593C>T - IntronicSNV - 4/27 1
7-87091543-T-C c.286+531A>G - IntronicSNV - 4/27 1
7-87091739-T-C c.286+335A>G - IntronicSNV - 4/27 1
7-87091826-T-C c.286+248A>G - IntronicSNV - 4/27 2
7-87091944-A-C c.286+130T>G - IntronicSNV - 4/27 3
7-87091944-A-G c.286+130T>C - IntronicSNV - 4/27 4
7-87092073-C-A c.286+1G>T - IntronicSNV - 4/27 1
7-87092073-C-T c.286+1G>A - IntronicSNV - 4/27 1
7-87092075-T-A c.285A>T p.P95= Synonymous 4/28 - 1
7-87092075-T-C c.285A>G p.P95= Synonymous 4/28 - 1
7-87092075-T-G c.285A>C p.P95= Synonymous 4/28 - 1
7-87092077-G-A c.283C>T p.P95S Missense 4/28 - 9
7-87092082-GA-AT c.277_278delinsAT p.S93I Missense 4/28 - 1
7-87092086-A-G c.274T>C p.F92L Missense 4/28 - 1
7-87092087-G-T c.273C>A p.N91K Missense 4/28 - 1
7-87092089-T-A c.271A>T p.N91Y Missense 4/28 - 1
7-87092089-T-C c.271A>G p.N91D Missense 4/28 - 1
7-87092089-T-G c.271A>C p.N91H Missense 4/28 - 1
7-87092091-C-T c.269G>A p.G90E Missense 4/28 - 6
7-87092092-C-G c.268G>C p.G90R Missense 4/28 - 1
7-87092092-C-T c.268G>A p.G90R Missense 4/28 - 2
7-87092093-TGC-ACA c.265_267delinsTGT p.A89C Missense 4/28 - 1
7-87092094-G-A c.266C>T p.A89V Missense 4/28 - 3
7-87092095-C-A c.265G>T p.A89S Missense 4/28 - 1
7-87092095-C-T c.265G>A p.A89T Missense 4/28 - 2
7-87092096-A-G c.264T>C p.T88= Synonymous 4/28 - 1
7-87092099-A-C c.261T>G p.D87E Missense 4/28 - 2
7-87092099-A-T c.261T>A p.D87E Missense 4/28 - 2
7-87092101-C-T c.259G>A p.D87N Missense 4/28 - 1
7-87092105-A-C c.255T>G p.F85L Missense 4/28 - 2
7-87092105-A-T c.255T>A p.F85L Missense 4/28 - 2
7-87092107-A-G c.253T>C p.F85L Missense 4/28 - 2
7-87092107-A-T c.253T>A p.F85I Missense 4/28 - 1
7-87092115-G-A c.245C>T p.T82I Missense 4/28 - 1
7-87092120-C-T c.240G>A p.E80= Synonymous 4/28 - 5
7-87092123-TCC-CCA c.235_237delinsTGG p.G79W Missense 4/28 - 1
7-87092124-C-T c.236G>A p.G79E Missense 4/28 - 1
7-87092127-A-C c.233T>G p.F78C Missense 4/28 - 1
7-87092129-T-A c.231A>T p.V77= Synonymous 4/28 - 1
7-87092129-T-C c.231A>G p.V77= Synonymous 4/28 - 1
7-87092129-T-G c.231A>C p.V77= Synonymous 4/28 - 1
7-87092135-C-A c.225G>T p.M75I Missense 4/28 - 1
7-87092135-C-G c.225G>C p.M75I Missense 4/28 - 1
7-87092135-C-T c.225G>A p.M75I Missense 4/28 - 1
7-87092140-T-C c.220A>G p.M74V Missense 4/28 - 1
7-87092142-AG-CT c.217_218inv p.L73S Missense 4/28 - 1
7-87092143-G-A c.217C>T p.L73F Missense 4/28 - 1
7-87092143-G-C c.217C>G p.L73V Missense 4/28 - 8
7-87092144-G-A c.216C>T p.P72= Synonymous 4/28 - 3
7-87092144-G-C c.216C>G p.P72= Synonymous 4/28 - 1
7-87092144-G-T c.216C>A p.P72= Synonymous 4/28 - 2
7-87092145-G-A c.215C>T p.P72L Missense 4/28 - 3
7-87092146-G-A c.214C>T p.P72S Missense 4/28 - 1
7-87092146-G-T c.214C>A p.P72T Missense 4/28 - 1
7-87092147-G-A c.213C>T p.L71= Synonymous 4/28 - 2
7-87092147-G-C c.213C>G p.L71= Synonymous 4/28 - 1
7-87092147-G-T c.213C>A p.L71= Synonymous 4/28 - 1
7-87092148-A-T c.212T>A p.L71H Missense 4/28 - 1
7-87092150-A-C c.210T>G p.G70= Synonymous 4/28 - 2
7-87092150-A-G c.210T>C p.G70= Synonymous 4/28 - 2
7-87092150-A-T c.210T>A p.G70= Synonymous 4/28 - 2
7-87092151-C-A c.209G>T p.G70V Missense 4/28 - 1
7-87092152-C-A c.208G>T p.G70C Missense 4/28 - 1
7-87092154-G-A c.206C>T p.S69L Missense 4/28 - 1
7-87092156-TCC-ATG c.202_204delinsCAT p.G68H Missense 4/28 - 1
7-87092157-C-T c.203G>A p.G68E Missense 4/28 - 1
7-87092158-C-G c.202G>C p.G68R Missense 4/28 - 3
7-87092158-C-T c.202G>A p.G68R Missense 4/28 - 5
7-87092159-G-A c.201C>T p.H67= Synonymous 4/28 - 1
7-87092160-T-A c.200A>T p.H67L Missense 4/28 - 1
7-87092161-G-A c.199C>T p.H67Y Missense 4/28 - 3
7-87092167-T-C c.193A>G p.I65V Missense 4/28 - 2
7-87092168-G-A c.192C>T p.A64= Synonymous 4/28 - 1
7-87092170-C-T c.190G>A p.A64T Missense 4/28 - 1
7-87092173-T-C c.187A>G p.M63V Missense 4/28 - 2
7-87092174-G-A c.186C>T p.I62= Synonymous 4/28 - 2
7-87092174-G-C c.186C>G p.I62M Missense 4/28 - 1
7-87092177-GG-CA c.182_183delinsTG p.T61M Missense 4/28 - 1
7-87092178-G-A c.182C>T p.T61I Missense 4/28 - 3
7-87092179-T-C c.181A>G p.T61A Missense 4/28 - 1
7-87092182-C-T c.178G>A p.G60S Missense 4/28 - 1
7-87092183-C-A c.177G>T p.L59= Synonymous 4/28 - 6
7-87092183-C-G c.177G>C p.L59= Synonymous 4/28 - 6
7-87092183-C-T c.177G>A p.L59= Synonymous 4/28 - 6
7-87092185-G-A c.175C>T p.L59= Synonymous 4/28 - 29
7-87092186-C-T c.174G>A p.S58= Synonymous 4/28 - 2
7-87092187-G-A c.173C>T p.S58L Missense 4/28 - 4
7-87092187-GA-CT c.172_173delinsAG p.S58R Missense 4/28 - 1
7-87092189-C-T c.171G>A p.M57I Missense 4/28 - 1
7-87092192-A-T c.168T>A p.F56L Missense 4/28 - 1
7-87092195-C-A c.165G>T p.L55F Missense 4/28 - 2
7-87092195-C-G c.165G>C p.L55F Missense 4/28 - 1
7-87092195-C-T c.165G>A p.L55= Synonymous 4/28 - 2
7-87092200-T-C c.160A>G p.K54E Missense 4/28 - 1
7-87092201-A-C c.159T>G p.D53E Missense 4/28 - 1
7-87092201-A-T c.159T>A p.D53E Missense 4/28 - 1
7-87092202-T-G c.158A>C p.D53A Missense 4/28 - 1
7-87092207-C-A c.153G>T p.W51C Missense 4/28 - 1
7-87092208-CA-C c.151del p.W51Gfs*15 Frameshift 4/28 - 1
7-87092212-C-T c.148G>A p.D50N Missense 4/28 - 3
7-87092213-G-A c.147C>T p.S49= Synonymous 4/28 - 8
7-87092214-G-A c.146C>T p.S49F Missense 4/28 - 1
7-87092220-C-T c.140G>A p.R47Q Missense 4/28 - 12
7-87092221-G-A c.139C>T p.R47* Nonsense 4/28 - 19
7-87092221-G-C c.139C>G p.R47G Missense 4/28 - 2
7-87092221-G-T c.139C>A p.R47= Synonymous 4/28 - 3
7-87092223-A-T c.137T>A p.F46Y Missense 4/28 - 1
7-87092224-A-T c.136T>A p.F46I Missense 4/28 - 1
7-87092376-A-G c.136-152T>C - IntronicSNV - 3/27 1
7-87096271-G-A c.136-4047C>T - IntronicSNV - 3/27 1
7-87100743-C-G c.135+1194G>C - IntronicSNV - 3/27 1
7-87100946-A-G c.135+991T>C - IntronicSNV - 3/27 1
7-87101407-C-G c.135+530G>C - IntronicSNV - 3/27 1
7-87101486-T-C c.135+451A>G - IntronicSNV - 3/27 3
7-87101486-T-G c.135+451A>C - IntronicSNV - 3/27 3
7-87101757-C-G c.135+180G>C - IntronicSNV - 3/27 1
7-87101766-T-C c.135+171A>G - IntronicSNV - 3/27 1
7-87101805-G-A c.135+132C>T - IntronicSNV - 3/27 1
7-87101937-C-T c.135G>A p.L45= Synonymous 3/28 - 1
7-87101939-A-G c.133T>C p.L45= Synonymous 3/28 - 1
7-87101941-G-A c.131C>T p.T44I Missense 3/28 - 1
7-87101946-TAC-CAT c.124_126delinsATG p.V42M Missense 3/28 - 1
7-87101947-A-G c.125T>C p.V42A Missense 3/28 - 1
7-87101948-C-T c.124G>A p.V42I Missense 3/28 - 2
7-87101950-C-G c.122G>C p.G41A Missense 3/28 - 2
7-87101950-C-T c.122G>A p.G41E Missense 3/28 - 1
7-87101952-A-C c.120T>G p.I40M Missense 3/28 - 1
7-87101953-A-T c.119T>A p.I40N Missense 3/28 - 1
7-87101961-C-A c.111G>T p.V37= Synonymous 3/28 - 1
7-87101961-C-G c.111G>C p.V37= Synonymous 3/28 - 1
7-87101961-C-T c.111G>A p.V37= Synonymous 3/28 - 1
7-87101963-C-T c.109G>A p.V37M Missense 3/28 - 1
7-87101970-C-A c.102G>T p.T34= Synonymous 3/28 - 2
7-87101970-C-CT c.101_102insA p.K35Efs*20 Frameshift 3/28 - 1
7-87101970-C-G c.102G>C p.T34= Synonymous 3/28 - 2
7-87101970-C-T c.102G>A p.T34= Synonymous 3/28 - 6
7-87101971-CG-C c.101del p.T34Rfs*4 Frameshift 3/28 - 1
7-87101971-G-A c.101C>T p.T34M Missense 3/28 - 9
7-87101971-G-T c.101C>A p.T34K Missense 3/28 - 1
7-87101972-T-C c.100A>G p.T34A Missense 3/28 - 1
7-87101971-G-GT c.100dup p.T34Nfs*21 Frameshift 3/28 - 4
7-87101971-GT-G c.100del p.T34Rfs*4 Frameshift 3/28 - 1
7-87101978-T-C c.94A>G p.K32E Missense 3/28 - 2
7-87101979-C-T c.93G>A p.R31= Synonymous 3/28 - 1
7-87101981-T-G c.91A>C p.R31= Synonymous 3/28 - 1
7-87101980-C-T c.92G>A p.R31K Missense 3/28 - 1
7-87101981-T-A c.91A>T p.R31W Missense 3/28 - 1
7-87101981-T-TA c.90_91insT p.R31* Nonsense 3/28 - 1
7-87101980-C-CT c.91dup p.R31Kfs*24 Frameshift 3/28 - 1
7-87101987-TG-T c.85del p.Q29Kfs*9 Frameshift 3/28 - 1
7-87102251-C-T c.81-260G>A - IntronicSNV - 2/27 1
7-87103670-C-G c.80+1032G>C - IntronicSNV - 2/27 1
7-87103670-C-T c.80+1032G>A - IntronicSNV - 2/27 1
7-87104703-T-C c.79A>G p.S27G Missense 2/28 - 3
7-87104704-G-A c.78C>T p.S26= Synonymous 2/28 - 1
7-87104707-G-A c.75C>T p.I25= Synonymous 2/28 - 1
7-87104707-G-C c.75C>G p.I25M Missense 2/28 - 1
7-87104710-G-A c.72C>T p.G24= Synonymous 2/28 - 1
7-87104711-C-T c.71G>A p.G24D Missense 2/28 - 2
7-87104712-C-G c.70G>C p.G24R Missense 2/28 - 2
7-87104712-C-T c.70G>A p.G24S Missense 2/28 - 1
7-87104718-C-G c.64G>C p.E22Q Missense 2/28 - 3
7-87104723-T-G c.59A>C p.D20A Missense 2/28 - 1
7-87104724-C-T c.58G>A p.D20N Missense 2/28 - 1
7-87104726-C-T c.56G>A p.G19D Missense 2/28 - 1
7-87104728-C-T c.54G>A p.E18= Synonymous 2/28 - 1
7-87104731-C-T c.51G>A p.A17= Synonymous 2/28 - 1
7-87104733-C-T c.49G>A p.A17T Missense 2/28 - 3
7-87104735-C-T c.47G>A p.S16N Missense 2/28 - 1
7-87104735-CT-GC c.46_47delinsGC p.S16A Missense 2/28 - 2
7-87104736-T-C c.46A>G p.S16G Missense 2/28 - 1
7-87104739-T-A c.43A>T p.T15S Missense 2/28 - 1
7-87104740-G-T c.42C>A p.P14= Synonymous 2/28 - 1
7-87104741-G-A c.41C>T p.P14L Missense 2/28 - 1
7-87104741-G-T c.41C>A p.P14H Missense 2/28 - 1
7-87104742-G-A c.40C>T p.P14S Missense 2/28 - 1
7-87104743-GCG-CCA c.37_39delinsTGG p.R13W Missense 2/28 - 1
7-87104744-C-T c.38G>A p.R13H Missense 2/28 - 2
7-87104745-G-A c.37C>T p.R13C Missense 2/28 - 3
7-87104746-C-G c.36G>C p.W12C Missense 2/28 - 2
7-87104749-G-A c.33C>T p.A11= Synonymous 2/28 - 1
7-87104749-G-C c.33C>G p.A11= Synonymous 2/28 - 1
7-87104749-GG-CT c.32_33delinsAG p.A11E Missense 2/28 - 1
7-87104749-G-T c.33C>A p.A11= Synonymous 2/28 - 1
7-87104750-G-A c.32C>T p.A11V Missense 2/28 - 2
7-87104750-GC-CG c.31_32delinsCG p.A11R Missense 2/28 - 1
7-87104750-GC-TG c.31_32delinsCA p.A11H Missense 2/28 - 1
7-87104753-G-A c.29C>T p.T10I Missense 2/28 - 2
7-87104753-G-C c.29C>G p.T10R Missense 2/28 - 1
7-87104754-T-A c.28A>T p.T10S Missense 2/28 - 1
7-87104754-T-G c.28A>C p.T10P Missense 2/28 - 1
7-87104756-C-T c.26G>A p.G9E Missense 2/28 - 1
7-87104757-C-G c.25G>C p.G9R Missense 2/28 - 3
7-87104757-C-T c.25G>A p.G9R Missense 2/28 - 2
7-87104761-C-A c.21G>T p.K7N Missense 2/28 - 2
7-87104761-C-G c.21G>C p.K7N Missense 2/28 - 2
7-87104762-T-G c.20A>C p.K7T Missense 2/28 - 1
7-87104766-C-T c.16G>A p.A6T Missense 2/28 - 2
7-87104768-G-A c.14C>T p.A5V Missense 2/28 - 1
7-87104770-C-A c.12G>T p.E4D Missense 2/28 - 1
7-87104770-C-T c.12G>A p.E4= Synonymous 2/28 - 1
7-87104772-C-G c.10G>C p.E4Q Missense 2/28 - 1
7-87104778-C-G c.4G>C p.D2H Missense 2/28 - 1
7-87104778-C-T c.4G>A p.D2N Missense 2/28 - 1
7-87104781-T-C c.1A>G p.M1? Missense 2/28 - 2
7-87104782-C-T c.-1G>A - 5-UTRSNV 2/28 - 1