MED23

MED23 mediator complex subunit 23

Annotation transcript: NM_004830.4

1216 unique variant annotations were identified in 380 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-131908824-G-A c.4102C>T p.Q1368* Nonsense 29/29 - 2
6-131908835-A-G c.4091T>C p.L1364S Missense 29/29 - 1
6-131908842-C-T c.4084G>A p.V1362M Missense 29/29 - 1
6-131908843-G-A c.4083C>T p.P1361= Synonymous 29/29 - 1
6-131908844-G-A c.4082C>T p.P1361L Missense 29/29 - 1
6-131908846-C-A c.4080G>T p.V1360= Synonymous 29/29 - 3
6-131908846-C-G c.4080G>C p.V1360= Synonymous 29/29 - 1
6-131908846-C-T c.4080G>A p.V1360= Synonymous 29/29 - 2
6-131908848-C-T c.4078G>A p.V1360M Missense 29/29 - 2
6-131908850-T-G c.4076A>C p.Q1359P Missense 29/29 - 1
6-131908853-T-A c.4073A>T p.N1358I Missense 29/29 - 1
6-131908856-G-C c.4070C>G p.S1357C Missense 29/29 - 1
6-131908858-C-G c.4068G>C p.Q1356H Missense 29/29 - 1
6-131908862-G-A c.4064C>T p.P1355L Missense 29/29 - 1
6-131908872-A-G c.4054T>C p.S1352P Missense 29/29 - 2
6-131908875-C-T c.4051G>A p.G1351R Missense 29/29 - 1
6-131908876-ACT-TCA c.4048_4050delinsTGA p.S1350* Nonsense 29/29 - 1
6-131908882-C-G c.4044G>C p.M1348I Missense 29/29 - 2
6-131908884-T-C c.4042A>G p.M1348V Missense 29/29 - 1
6-131908892-G-A c.4034C>T p.P1345L Missense 29/29 - 1
6-131908893-G-A c.4033C>T p.P1345S Missense 29/29 - 1
6-131908893-G-T c.4033C>A p.P1345T Missense 29/29 - 1
6-131908894-A-C c.4032T>G p.P1344= Synonymous 29/29 - 1
6-131908894-A-G c.4032T>C p.P1344= Synonymous 29/29 - 1
6-131908898-A-T c.4028T>A p.V1343E Missense 29/29 - 1
6-131908902-C-A c.4024G>T p.A1342S Missense 29/29 - 1
6-131908906-T-A c.4020A>T p.P1340= Synonymous 29/29 - 1
6-131908906-TG-AT c.4019_4020delinsAT p.P1340H Missense 29/29 - 1
6-131908911-C-G c.4015G>C p.E1339Q Missense 29/29 - 1
6-131908923-T-C c.4003A>G p.I1335V Missense 29/29 - 1
6-131908930-G-A c.3996C>T p.I1332= Synonymous 29/29 - 1
6-131908935-A-T c.3991T>A p.F1331I Missense 29/29 - 1
6-131908937-C-T c.3989G>A p.R1330Q Missense 29/29 - 1
6-131908938-G-A c.3988C>T p.R1330* Nonsense 29/29 - 12
6-131908939-A-C c.3987T>G p.L1329= Synonymous 29/29 - 1
6-131908939-A-G c.3987T>C p.L1329= Synonymous 29/29 - 1
6-131908939-A-T c.3987T>A p.L1329= Synonymous 29/29 - 1
6-131908943-C-T c.3983G>A p.R1328H Missense 29/29 - 2
6-131908944-G-A c.3982C>T p.R1328C Missense 29/29 - 6
6-131908946-A-C c.3980T>G p.L1327R Missense 29/29 - 1
6-131908954-A-C c.3972T>G p.A1324= Synonymous 29/29 - 1
6-131908954-A-G c.3972T>C p.A1324= Synonymous 29/29 - 1
6-131908954-A-T c.3972T>A p.A1324= Synonymous 29/29 - 1
6-131908956-C-G c.3970G>C p.A1324P Missense 29/29 - 3
6-131908963-T-A c.3963A>T p.L1321F Missense 29/29 - 1
6-131908978-C-G c.3948G>C p.K1316N Missense 29/29 - 1
6-131908983-C-T c.3943G>A p.E1315K Missense 29/29 - 1
6-131910600-C-T c.3939+5G>A - IntronicSNV - 28/28 1
6-131910610-C-G c.3934G>C p.E1312Q Missense 28/29 - 2
6-131910610-C-T c.3934G>A p.E1312K Missense 28/29 - 2
6-131910617-G-A c.3927C>T p.S1309= Synonymous 28/29 - 1
6-131910622-C-A c.3922G>T p.D1308Y Missense 28/29 - 1
6-131910625-C-A c.3919G>T p.G1307C Missense 28/29 - 1
6-131910643-T-G c.3901A>C p.M1301L Missense 28/29 - 1
6-131910645-T-C c.3899A>G p.H1300R Missense 28/29 - 2
6-131910650-G-A c.3894C>T p.L1298= Synonymous 28/29 - 2
6-131910650-G-C c.3894C>G p.L1298= Synonymous 28/29 - 3
6-131910650-G-T c.3894C>A p.L1298= Synonymous 28/29 - 2
6-131910652-G-A c.3892C>T p.L1298F Missense 28/29 - 1
6-131910653-G-C c.3891C>G p.F1297L Missense 28/29 - 2
6-131910653-G-T c.3891C>A p.F1297L Missense 28/29 - 2
6-131910655-A-G c.3889T>C p.F1297L Missense 28/29 - 2
6-131910658-C-T c.3886G>A p.D1296N Missense 28/29 - 1
6-131910667-G-A c.3877C>T p.P1293S Missense 28/29 - 3
6-131910672-A-G c.3872T>C p.M1291T Missense 28/29 - 1
6-131910675-T-C c.3869A>G p.Y1290C Missense 28/29 - 2
6-131910680-T-C c.3864A>G p.L1288= Synonymous 28/29 - 1
6-131910682-A-G c.3862T>C p.L1288= Synonymous 28/29 - 1
6-131910684-T-A c.3860A>T p.H1287L Missense 28/29 - 3
6-131910684-T-C c.3860A>G p.H1287R Missense 28/29 - 3
6-131910687-G-A c.3857C>T p.T1286I Missense 28/29 - 1
6-131910703-C-A c.3841G>T p.V1281F Missense 28/29 - 1
6-131910712-G-A c.3832C>T p.L1278= Synonymous 28/29 - 1
6-131910712-G-T c.3832C>A p.L1278M Missense 28/29 - 2
6-131910716-G-T c.3828C>A p.D1276E Missense 28/29 - 1
6-131910717-T-C c.3827A>G p.D1276G Missense 28/29 - 1
6-131910725-C-A c.3819G>T p.A1273= Synonymous 28/29 - 1
6-131910725-C-G c.3819G>C p.A1273= Synonymous 28/29 - 1
6-131910725-C-T c.3819G>A p.A1273= Synonymous 28/29 - 1
6-131910726-G-A c.3818C>T p.A1273V Missense 28/29 - 3
6-131910733-C-G c.3811G>C p.G1271R Missense 28/29 - 1
6-131910772-C-CAA c.3808-38_3808-37dup - IntronicInsertion - 27/28 1
6-131910914-G-GA c.3808-179dup - IntronicInsertion - 27/28 1
6-131911464-C-T c.3805G>A p.E1269K Missense 27/29 - 1
6-131911468-C-A c.3801G>T p.M1267I Missense 27/29 - 1
6-131911468-C-G c.3801G>C p.M1267I Missense 27/29 - 1
6-131911468-C-T c.3801G>A p.M1267I Missense 27/29 - 1
6-131911471-A-G c.3798T>C p.C1266= Synonymous 27/29 - 1
6-131911478-G-A c.3791C>T p.T1264I Missense 27/29 - 1
6-131911481-C-A c.3788G>T p.R1263I Missense 27/29 - 1
6-131911499-T-G c.3770A>C p.Q1257P Missense 27/29 - 2
6-131911500-G-T c.3769C>A p.Q1257K Missense 27/29 - 1
6-131911501-TA-T c.3767del p.L1256Yfs*12 Frameshift 27/29 - 1
6-131911508-G-A c.3761C>T p.P1254L Missense 27/29 - 5
6-131911520-T-C c.3749A>G p.H1250R Missense 27/29 - 1
6-131911534-C-CA c.3734dup p.L1245Ffs*32 Frameshift 27/29 - 1
6-131911541-A-G c.3728T>C p.F1243S Missense 27/29 - 1
6-131911544-T-A c.3725A>T p.E1242V Missense 27/29 - 1
6-131911545-C-T c.3724G>A p.E1242K Missense 27/29 - 2
6-131911546-GG-CA c.3722_3723delinsTG p.T1241M Missense 27/29 - 1
6-131911547-G-A c.3722C>T p.T1241I Missense 27/29 - 1
6-131911557-T-C c.3712A>G p.I1238V Missense 27/29 - 1
6-131911559-G-A c.3710C>T p.P1237L Missense 27/29 - 1
6-131911560-G-A c.3709C>T p.P1237S Missense 27/29 - 1
6-131911559-GGAA-G c.3707_3709del p.L1236del InFrameDeletion 27/29 - 1
6-131911565-A-G c.3704T>C p.L1235P Missense 27/29 - 2
6-131911566-G-A c.3703C>T p.L1235F Missense 27/29 - 1
6-131911567-TAC-CAT c.3700_3702delinsATG p.V1234M Missense 27/29 - 1
6-131911567-T-G c.3702A>C p.V1234= Synonymous 27/29 - 1
6-131911577-A-G c.3692T>C p.L1231P Missense 27/29 - 1
6-131911655-A-T c.3687-73T>A - IntronicSNV - 26/28 2
6-131912319-A-C c.3686+134T>G - IntronicSNV - 26/28 2
6-131912402-A-G c.3686+51T>C - IntronicSNV - 26/28 1
6-131912451-A-C c.3686+2T>G - IntronicSNV - 26/28 1
6-131912455-T-C c.3684A>G p.P1228= Synonymous 26/29 - 1
6-131912455-T-G c.3684A>C p.P1228= Synonymous 26/29 - 1
6-131912457-G-A c.3682C>T p.P1228S Missense 26/29 - 2
6-131912457-G-C c.3682C>G p.P1228A Missense 26/29 - 1
6-131912465-G-T c.3674C>A p.S1225Y Missense 26/29 - 1
6-131912472-G-A c.3667C>T p.Q1223* Nonsense 26/29 - 5
6-131912472-G-T c.3667C>A p.Q1223K Missense 26/29 - 1
6-131912475-C-T c.3664G>A p.G1222R Missense 26/29 - 1
6-131912478-T-C c.3661A>G p.I1221V Missense 26/29 - 1
6-131912487-G-A c.3652C>T p.H1218Y Missense 26/29 - 1
6-131912494-CAC-GAT c.3643_3645delinsATC p.V1215I Missense 26/29 - 1
6-131912501-T-C c.3638A>G p.H1213R Missense 26/29 - 5
6-131912502-TG-T c.3637del p.H1213Mfs*26 Frameshift 26/29 - 2
6-131912513-A-G c.3626T>C p.L1209S Missense 26/29 - 1
6-131912516-G-A c.3623C>T p.T1208M Missense 26/29 - 5
6-131912519-T-C c.3620A>G p.Y1207C Missense 26/29 - 2
6-131912530-C-A c.3609G>T p.M1203I Missense 26/29 - 1
6-131912530-C-G c.3609G>C p.M1203I Missense 26/29 - 1
6-131912530-C-T c.3609G>A p.M1203I Missense 26/29 - 1
6-131912543-G-A c.3596C>T p.S1199F Missense 26/29 - 2
6-131912543-G-C c.3596C>G p.S1199C Missense 26/29 - 2
6-131912544-A-C c.3595T>G p.S1199A Missense 26/29 - 1
6-131912547-G-T c.3592C>A p.Q1198K Missense 26/29 - 1
6-131912550-G-C c.3589C>G p.H1197D Missense 26/29 - 3
6-131912560-G-C c.3579C>G p.F1193L Missense 26/29 - 1
6-131912560-G-T c.3579C>A p.F1193L Missense 26/29 - 1
6-131912562-A-G c.3577T>C p.F1193L Missense 26/29 - 1
6-131912565-C-A c.3574G>T p.D1192Y Missense 26/29 - 3
6-131912565-C-T c.3574G>A p.D1192N Missense 26/29 - 4
6-131912568-A-C c.3571T>G p.F1191V Missense 26/29 - 1
6-131912569-G-A c.3570C>T p.L1190= Synonymous 26/29 - 1
6-131912572-GCG-CCA c.3565_3567delinsTGG p.R1189W Missense 26/29 - 1
6-131912573-C-T c.3566G>A p.R1189H Missense 26/29 - 1
6-131912574-G-A c.3565C>T p.R1189C Missense 26/29 - 2
6-131912578-T-C c.3561A>G p.P1187= Synonymous 26/29 - 1
6-131912580-G-A c.3559C>T p.P1187S Missense 26/29 - 2
6-131912582-T-A c.3557A>T p.Y1186F Missense 26/29 - 1
6-131912588-A-G c.3551T>C p.V1184A Missense 26/29 - 2
6-131912593-C-T c.3546G>A p.E1182= Synonymous 26/29 - 1
6-131912618-C-A c.3521G>T p.S1174I Missense 26/29 - 1
6-131912621-CT-AG c.3517_3518inv p.S1173L Missense 26/29 - 1
6-131912625-T-C c.3514A>G p.I1172V Missense 26/29 - 1
6-131912626-G-A c.3513C>T p.V1171= Synonymous 26/29 - 4
6-131912629-A-G c.3510T>C p.S1170= Synonymous 26/29 - 1
6-131912639-C-T c.3500G>A p.R1167Q Missense 26/29 - 1
6-131912640-G-A c.3499C>T p.R1167* Nonsense 26/29 - 7
6-131912641-A-C c.3498T>G p.D1166E Missense 26/29 - 1
6-131912645-T-C c.3494A>G p.H1165R Missense 26/29 - 1
6-131912652-C-A c.3487G>T p.V1163F Missense 26/29 - 1
6-131913530-G-C c.3469C>G p.P1157A Missense 25/29 - 1
6-131913535-G-A c.3464C>T p.A1155V Missense 25/29 - 1
6-131913539-T-C c.3460A>G p.T1154A Missense 25/29 - 1
6-131913543-G-T c.3456C>A p.I1152= Synonymous 25/29 - 1
6-131913545-T-G c.3454A>C p.I1152L Missense 25/29 - 1
6-131913557-C-T c.3442G>A p.A1148T Missense 25/29 - 1
6-131913565-C-G c.3434G>C p.W1145S Missense 25/29 - 1
6-131913569-C-T c.3430G>A p.A1144T Missense 25/29 - 1
6-131913576-G-A c.3423C>T p.N1141= Synonymous 25/29 - 1
6-131913581-C-A c.3418G>T p.E1140* Nonsense 25/29 - 1
6-131913582-T-C c.3417A>G p.R1139= Synonymous 25/29 - 2
6-131913584-T-G c.3415A>C p.R1139= Synonymous 25/29 - 1
6-131913596-G-A c.3403C>T p.P1135S Missense 25/29 - 1
6-131913599-G-C c.3400C>G p.Q1134E Missense 25/29 - 1
6-131914132-A-C c.3398+14T>G - IntronicSNV - 24/28 1
6-131914161-T-G c.3383A>C p.N1128T Missense 24/29 - 1
6-131914164-A-G c.3380T>C p.L1127P Missense 24/29 - 1
6-131914180-C-A c.3364G>T p.V1122F Missense 24/29 - 2
6-131914180-C-T c.3364G>A p.V1122I Missense 24/29 - 1
6-131914181-T-A c.3363A>T p.E1121D Missense 24/29 - 2
6-131914183-C-A c.3361G>T p.E1121* Nonsense 24/29 - 4
6-131914191-G-C c.3353C>G p.S1118* Nonsense 24/29 - 1
6-131914191-G-T c.3353C>A p.S1118* Nonsense 24/29 - 1
6-131914195-C-T c.3349G>A p.V1117I Missense 24/29 - 1
6-131914198-C-T c.3346G>A p.A1116T Missense 24/29 - 1
6-131914203-G-A c.3341C>T p.A1114V Missense 24/29 - 3
6-131914205-C-T c.3339G>A p.M1113I Missense 24/29 - 1
6-131914207-T-A c.3337A>T p.M1113L Missense 24/29 - 2
6-131914207-T-G c.3337A>C p.M1113L Missense 24/29 - 2
6-131914208-G-T c.3336C>A p.L1112= Synonymous 24/29 - 1
6-131914217-A-G c.3327T>C p.C1109= Synonymous 24/29 - 1
6-131914220-A-T c.3324T>A p.T1108= Synonymous 24/29 - 1
6-131914221-G-A c.3323C>T p.T1108I Missense 24/29 - 1
6-131914221-G-C c.3323C>G p.T1108S Missense 24/29 - 1
6-131914229-G-A c.3315C>T p.L1105= Synonymous 24/29 - 1
6-131914231-G-C c.3313C>G p.L1105V Missense 24/29 - 1
6-131914232-A-G c.3312T>C p.A1104= Synonymous 24/29 - 4
6-131914236-T-C c.3308A>G p.H1103R Missense 24/29 - 1
6-131914243-C-A c.3301G>T p.A1101S Missense 24/29 - 1
6-131914250-G-A c.3294C>T p.P1098= Synonymous 24/29 - 1
6-131914258-C-CA c.3285dup p.E1096* Nonsense 24/29 - 1
6-131914259-A-C c.3285T>G p.N1095K Missense 24/29 - 1
6-131914259-A-T c.3285T>A p.N1095K Missense 24/29 - 1
6-131914268-C-G c.3276G>C p.W1092C Missense 24/29 - 1
6-131914268-C-T c.3276G>A p.W1092* Nonsense 24/29 - 1
6-131914269-C-T c.3275G>A p.W1092* Nonsense 24/29 - 1
6-131914271-G-T c.3273C>A p.D1091E Missense 24/29 - 1
6-131914272-T-G c.3272A>C p.D1091A Missense 24/29 - 1
6-131914287-G-A c.3257C>T p.P1086L Missense 24/29 - 1
6-131914288-G-A c.3256C>T p.P1086S Missense 24/29 - 4
6-131914295-A-G c.3249T>C p.S1083= Synonymous 24/29 - 1
6-131914298-T-A c.3246A>T p.K1082N Missense 24/29 - 2
6-131914311-G-A c.3233C>T p.T1078M Missense 24/29 - 1
6-131914311-G-C c.3233C>G p.T1078R Missense 24/29 - 1
6-131914327-G-A c.3233-16C>T - IntronicSNV - 23/28 1
6-131914901-G-A c.3232+338C>T - IntronicSNV - 23/28 1
6-131915240-A-G c.3231T>C p.D1077= Synonymous 23/29 - 1
6-131915242-C-T c.3229G>A p.D1077N Missense 23/29 - 3
6-131915246-T-A c.3225A>T p.L1075= Synonymous 23/29 - 1
6-131915246-T-C c.3225A>G p.L1075= Synonymous 23/29 - 1
6-131915246-T-G c.3225A>C p.L1075= Synonymous 23/29 - 1
6-131915248-G-A c.3223C>T p.L1075= Synonymous 23/29 - 2
6-131915253-C-T c.3218G>A p.G1073D Missense 23/29 - 1
6-131915263-T-A c.3208A>T p.R1070* Nonsense 23/29 - 1
6-131915271-T-C c.3200A>G p.Y1067C Missense 23/29 - 2
6-131915272-A-G c.3199T>C p.Y1067H Missense 23/29 - 3
6-131915277-T-C c.3194A>G p.D1065G Missense 23/29 - 1
6-131915281-C-T c.3190G>A p.D1064N Missense 23/29 - 1
6-131915289-C-G c.3182G>C p.W1061S Missense 23/29 - 1
6-131915292-G-A c.3179C>T p.P1060L Missense 23/29 - 2
6-131915293-G-A c.3178C>T p.P1060S Missense 23/29 - 3
6-131915293-G-T c.3178C>A p.P1060T Missense 23/29 - 1
6-131915296-T-G c.3175A>C p.N1059H Missense 23/29 - 1
6-131915303-TC-AT c.3167_3168delinsAT p.R1056H Missense 23/29 - 1
6-131915305-G-A c.3166C>T p.R1056* Nonsense 23/29 - 1
6-131915305-G-T c.3166C>A p.R1056= Synonymous 23/29 - 1
6-131915307-G-A c.3164C>T p.A1055V Missense 23/29 - 1
6-131915312-C-A c.3159G>T p.M1053I Missense 23/29 - 1
6-131915312-C-G c.3159G>C p.M1053I Missense 23/29 - 1
6-131915312-C-T c.3159G>A p.M1053I Missense 23/29 - 1
6-131915317-C-T c.3154G>A p.A1052T Missense 23/29 - 3
6-131915324-C-A c.3147G>T p.L1049= Synonymous 23/29 - 1
6-131915324-C-G c.3147G>C p.L1049= Synonymous 23/29 - 1
6-131915324-C-T c.3147G>A p.L1049= Synonymous 23/29 - 1
6-131915326-G-A c.3145C>T p.L1049= Synonymous 23/29 - 1
6-131915327-G-A c.3144C>T p.Y1048= Synonymous 23/29 - 1
6-131915327-G-C c.3144C>G p.Y1048* Nonsense 23/29 - 1
6-131915327-G-T c.3144C>A p.Y1048* Nonsense 23/29 - 1
6-131915331-G-A c.3140C>T p.T1047I Missense 23/29 - 1
6-131915331-G-C c.3140C>G p.T1047S Missense 23/29 - 2
6-131915332-T-A c.3139A>T p.T1047S Missense 23/29 - 1
6-131915338-T-A c.3133A>T p.S1045C Missense 23/29 - 1
6-131915340-A-G c.3131T>C p.L1044P Missense 23/29 - 1
6-131915350-C-A c.3121G>T p.G1041C Missense 23/29 - 1
6-131915352-T-A c.3119A>T p.Q1040L Missense 23/29 - 1
6-131915355-G-A c.3116C>T p.P1039L Missense 23/29 - 1
6-131915358-C-A c.3113G>T p.R1038L Missense 23/29 - 1
6-131915359-G-T c.3112C>A p.R1038= Synonymous 23/29 - 1
6-131915361-T-C c.3110A>G p.N1037S Missense 23/29 - 1
6-131915366-C-T c.3105G>A p.K1035= Synonymous 23/29 - 1
6-131915374-GA-G c.3097del p.S1033Lfs*2 Frameshift 23/29 - 1
6-131915382-A-G c.3089T>C p.I1030T Missense 23/29 - 1
6-131915384-C-A c.3087G>T p.A1029= Synonymous 23/29 - 1
6-131915384-C-G c.3087G>C p.A1029= Synonymous 23/29 - 1
6-131915384-C-T c.3087G>A p.A1029= Synonymous 23/29 - 1
6-131915385-G-A c.3086C>T p.A1029V Missense 23/29 - 1
6-131915392-C-T c.3079G>A p.V1027I Missense 23/29 - 1
6-131915393-G-A c.3078C>T p.L1026= Synonymous 23/29 - 1
6-131915396-T-G c.3075A>C p.K1025N Missense 23/29 - 1
6-131915400-C-T c.3071G>A p.R1024Q Missense 23/29 - 2
6-131915407-G-A c.3064C>T p.L1022F Missense 23/29 - 1
6-131915413-C-T c.3058G>A p.A1020T Missense 23/29 - 1
6-131915414-G-A c.3057C>T p.R1019= Synonymous 23/29 - 1
6-131915415-C-T c.3056G>A p.R1019H Missense 23/29 - 1
6-131915423-C-G c.3048G>C p.L1016= Synonymous 23/29 - 1
6-131915426-G-A c.3045C>T p.H1015= Synonymous 23/29 - 1
6-131915428-G-C c.3043C>G p.H1015D Missense 23/29 - 1
6-131915436-T-C c.3035A>G p.Y1012C Missense 23/29 - 1
6-131915439-T-C c.3032A>G p.Y1011C Missense 23/29 - 2
6-131915457-A-G c.3014T>C p.L1005P Missense 23/29 - 1
6-131915458-G-C c.3013C>G p.L1005V Missense 23/29 - 1
6-131915460-T-A c.3011A>T p.Y1004F Missense 23/29 - 1
6-131915460-T-C c.3011A>G p.Y1004C Missense 23/29 - 1
6-131915466-A-G c.3005T>C p.V1002A Missense 23/29 - 1
6-131915468-T-A c.3003A>T p.P1001= Synonymous 23/29 - 1
6-131915468-T-C c.3003A>G p.P1001= Synonymous 23/29 - 1
6-131915468-T-G c.3003A>C p.P1001= Synonymous 23/29 - 1
6-131915470-G-T c.3001C>A p.P1001T Missense 23/29 - 1
6-131915472-C-T c.2999G>A p.R1000H Missense 23/29 - 1
6-131915473-G-A c.2998C>T p.R1000C Missense 23/29 - 3
6-131915473-G-C c.2998C>G p.R1000G Missense 23/29 - 1
6-131915556-A-G c.2996-81T>C - IntronicSNV - 22/28 1
6-131917114-G-A c.2968C>T p.H990Y Missense 22/29 - 1
6-131917127-C-A c.2955G>T p.E985D Missense 22/29 - 1
6-131917140-G-A c.2942C>T p.S981F Missense 22/29 - 3
6-131917145-C-A c.2937G>T p.P979= Synonymous 22/29 - 2
6-131917145-C-G c.2937G>C p.P979= Synonymous 22/29 - 1
6-131917145-C-T c.2937G>A p.P979= Synonymous 22/29 - 1
6-131917146-G-A c.2936C>T p.P979L Missense 22/29 - 1
6-131917150-G-A c.2932C>T p.L978F Missense 22/29 - 2
6-131917156-C-A c.2926G>T p.E976* Nonsense 22/29 - 2
6-131917168-G-A c.2914C>T p.H972Y Missense 22/29 - 1
6-131917174-C-T c.2908G>A p.V970I Missense 22/29 - 1
6-131917180-C-A c.2902G>T p.D968Y Missense 22/29 - 1
6-131917184-T-C c.2898A>G p.V966= Synonymous 22/29 - 1
6-131917188-G-A c.2894C>T p.P965L Missense 22/29 - 1
6-131917194-A-C c.2888T>G p.F963C Missense 22/29 - 2
6-131917197-C-T c.2885G>A p.R962Q Missense 22/29 - 1
6-131917198-G-A c.2884C>T p.R962* Nonsense 22/29 - 7
6-131917213-C-T c.2869G>A p.G957R Missense 22/29 - 1
6-131917218-T-C c.2864A>G p.Y955C Missense 22/29 - 1
6-131917224-G-A c.2858C>T p.P953L Missense 22/29 - 1
6-131917224-G-T c.2858C>A p.P953H Missense 22/29 - 1
6-131917225-G-A c.2857C>T p.P953S Missense 22/29 - 2
6-131917226-C-A c.2856G>T p.L952= Synonymous 22/29 - 2
6-131917229-A-G c.2853T>C p.Y951= Synonymous 22/29 - 2
6-131917232-G-C c.2850C>G p.P950= Synonymous 22/29 - 2
6-131917233-G-A c.2849C>T p.P950L Missense 22/29 - 3
6-131917253-A-C c.2829T>G p.P943= Synonymous 22/29 - 1
6-131917253-A-G c.2829T>C p.P943= Synonymous 22/29 - 1
6-131917253-A-T c.2829T>A p.P943= Synonymous 22/29 - 1
6-131917255-G-A c.2827C>T p.P943S Missense 22/29 - 1
6-131917256-A-C c.2826T>G p.D942E Missense 22/29 - 3
6-131917256-A-T c.2826T>A p.D942E Missense 22/29 - 2
6-131917259-CAC-GAT c.2821_2823delinsATC p.V941I Missense 22/29 - 1
6-131917264-G-C c.2818C>G p.Q940E Missense 22/29 - 1
6-131917265-T-C c.2817A>G p.E939= Synonymous 22/29 - 1
6-131917268-C-A c.2814G>T p.A938= Synonymous 22/29 - 1
6-131917268-C-G c.2814G>C p.A938= Synonymous 22/29 - 1
6-131917268-C-T c.2814G>A p.A938= Synonymous 22/29 - 1
6-131917269-G-A c.2813C>T p.A938V Missense 22/29 - 2
6-131917271-G-A c.2811C>T p.L937= Synonymous 22/29 - 1
6-131917271-G-C c.2811C>G p.L937= Synonymous 22/29 - 1
6-131917271-G-T c.2811C>A p.L937= Synonymous 22/29 - 1
6-131917272-A-G c.2810T>C p.L937P Missense 22/29 - 1
6-131917280-A-G c.2802T>C p.F934= Synonymous 22/29 - 1
6-131917292-C-T c.2790G>A p.E930= Synonymous 22/29 - 1
6-131917297-G-A c.2785C>T p.P929S Missense 22/29 - 2
6-131917312-T-C c.2779-9A>G - IntronicSNV - 21/28 1
6-131917345-A-T c.2779-42T>A - IntronicSNV - 21/28 1
6-131917379-A-G c.2779-76T>C - IntronicSNV - 21/28 3
6-131917601-CAAATACTCAAGTATGGCTTTAAAAGGACTATTTG-C c.2778+23_2778+56del - IntronicDeletion - 21/28 1
6-131917642-C-A c.2778+16G>T - IntronicSNV - 21/28 1
6-131917642-C-T c.2778+16G>A - IntronicSNV - 21/28 1
6-131917656-A-G c.2778+2T>C - IntronicSNV - 21/28 1
6-131917677-T-C c.2759A>G p.K920R Missense 21/29 - 1
6-131917681-T-C c.2755A>G p.T919A Missense 21/29 - 1
6-131917683-TGCCA-T c.2749_2752del p.W917Tfs*5 Frameshift 21/29 - 1
6-131917689-T-G c.2747A>C p.D916A Missense 21/29 - 1
6-131917692-T-TG c.2743_2744insC p.N915Tfs*2 Frameshift 21/29 - 1
6-131917694-C-A c.2742G>T p.Q914H Missense 21/29 - 2
6-131917694-C-G c.2742G>C p.Q914H Missense 21/29 - 1
6-131917699-A-G c.2737T>C p.L913= Synonymous 21/29 - 1
6-131917701-C-T c.2735G>A p.W912* Nonsense 21/29 - 1
6-131917707-T-G c.2729A>C p.E910A Missense 21/29 - 1
6-131917708-C-A c.2728G>T p.E910* Nonsense 21/29 - 1
6-131917712-G-A c.2724C>T p.S908= Synonymous 21/29 - 2
6-131917713-G-A c.2723C>T p.S908F Missense 21/29 - 2
6-131917730-G-C c.2706C>G p.D902E Missense 21/29 - 1
6-131917741-G-A c.2695C>T p.R899* Nonsense 21/29 - 5
6-131917745-TCT-ACA c.2689_2691delinsTGT p.R897C Missense 21/29 - 1
6-131917747-TA-T c.2688del p.F896Lfs*5 Frameshift 21/29 - 2
6-131917753-C-T c.2683G>A p.D895N Missense 21/29 - 2
6-131917757-TG-T c.2678del p.P893Qfs*8 Frameshift 21/29 - 1
6-131917759-G-A c.2677C>T p.P893S Missense 21/29 - 1
6-131917760-T-C c.2676A>G p.K892= Synonymous 21/29 - 1
6-131917763-G-A c.2673C>T p.L891= Synonymous 21/29 - 1
6-131917763-G-C c.2673C>G p.L891= Synonymous 21/29 - 2
6-131917763-G-T c.2673C>A p.L891= Synonymous 21/29 - 1
6-131917766-T-C c.2670A>G p.L890= Synonymous 21/29 - 1
6-131917768-A-G c.2668T>C p.L890= Synonymous 21/29 - 1
6-131917788-T-C c.2648A>G p.Y883C Missense 21/29 - 1
6-131917791-C-G c.2645G>C p.C882S Missense 21/29 - 1
6-131917809-C-G c.2627G>C p.G876A Missense 21/29 - 1
6-131917813-C-A c.2623G>T p.E875* Nonsense 21/29 - 1
6-131917816-G-C c.2620C>G p.H874D Missense 21/29 - 1
6-131917818-C-A c.2618G>T p.S873I Missense 21/29 - 1
6-131917818-C-T c.2618G>A p.S873N Missense 21/29 - 1
6-131917816-GACT-G c.2617_2619del p.S873del InFrameDeletion 21/29 - 1
6-131917821-C-T c.2615G>A p.R872H Missense 21/29 - 1
6-131917822-G-A c.2614C>T p.R872C Missense 21/29 - 3
6-131917827-G-C c.2609C>G p.A870G Missense 21/29 - 1
6-131917896-A-G c.2608-68T>C - IntronicSNV - 20/28 1
6-131917923-T-G c.2608-95A>C - IntronicSNV - 20/28 1
6-131919431-C-G c.2603G>C p.C868S Missense 20/29 - 1
6-131919431-C-T c.2603G>A p.C868Y Missense 20/29 - 1
6-131919435-G-T c.2599C>A p.L867I Missense 20/29 - 1
6-131919448-C-A c.2586G>T p.L862= Synonymous 20/29 - 1
6-131919448-C-G c.2586G>C p.L862= Synonymous 20/29 - 1
6-131919448-C-T c.2586G>A p.L862= Synonymous 20/29 - 1
6-131919450-G-A c.2584C>T p.L862= Synonymous 20/29 - 1
6-131919455-A-G c.2579T>C p.V860A Missense 20/29 - 3
6-131919457-A-C c.2577T>G p.I859M Missense 20/29 - 1
6-131919474-C-G c.2560G>C p.V854L Missense 20/29 - 1
6-131919475-C-A c.2559G>T p.M853I Missense 20/29 - 1
6-131919477-T-C c.2557A>G p.M853V Missense 20/29 - 1
6-131919478-G-A c.2556C>T p.D852= Synonymous 20/29 - 1
6-131919485-A-G c.2549T>C p.L850P Missense 20/29 - 1
6-131919488-A-C c.2546T>G p.I849S Missense 20/29 - 2
6-131919489-T-C c.2545A>G p.I849V Missense 20/29 - 1
6-131919490-T-A c.2544A>T p.E848D Missense 20/29 - 1
6-131919490-T-G c.2544A>C p.E848D Missense 20/29 - 1
6-131919491-T-G c.2543A>C p.E848A Missense 20/29 - 1
6-131919493-A-C c.2541T>G p.I847M Missense 20/29 - 1
6-131919497-C-T c.2537G>A p.C846Y Missense 20/29 - 1
6-131919498-A-T c.2536T>A p.C846S Missense 20/29 - 1
6-131919505-G-A c.2529C>T p.L843= Synonymous 20/29 - 2
6-131919505-G-C c.2529C>G p.L843= Synonymous 20/29 - 2
6-131919505-G-T c.2529C>A p.L843= Synonymous 20/29 - 3
6-131919506-A-C c.2528T>G p.L843R Missense 20/29 - 1
6-131919509-T-C c.2525A>G p.Q842R Missense 20/29 - 1
6-131919515-C-A c.2519G>T p.G840V Missense 20/29 - 1
6-131919516-C-A c.2518G>T p.G840C Missense 20/29 - 1
6-131919526-TG-CA c.2507_2508inv p.T836M Missense 20/29 - 1
6-131919553-T-G c.2481A>C p.A827= Synonymous 20/29 - 1
6-131919554-G-A c.2480C>T p.A827V Missense 20/29 - 1
6-131919563-C-G c.2471G>C p.R824T Missense 20/29 - 1
6-131919584-C-T c.2450G>A p.R817K Missense 20/29 - 1
6-131919595-T-C c.2439A>G p.R813= Synonymous 20/29 - 1
6-131919597-T-G c.2437A>C p.R813= Synonymous 20/29 - 1
6-131919599-T-A c.2435A>T p.E812V Missense 20/29 - 1
6-131919649-G-A c.2427-42C>T - IntronicSNV - 19/28 1
6-131919705-A-G c.2417T>C p.I806T Missense 19/29 - 1
6-131919717-T-C c.2405A>G p.H802R Missense 19/29 - 1
6-131919718-G-A c.2404C>T p.H802Y Missense 19/29 - 4
6-131919731-G-A c.2391C>T p.L797= Synonymous 19/29 - 2
6-131919731-G-C c.2391C>G p.L797= Synonymous 19/29 - 2
6-131919731-G-T c.2391C>A p.L797= Synonymous 19/29 - 2
6-131919748-G-A c.2374C>T p.L792F Missense 19/29 - 1
6-131919751-A-T c.2371T>A p.C791S Missense 19/29 - 1
6-131919750-CAAAG-C c.2368_2371del p.L790Vfs*21 Frameshift 19/29 - 1
6-131919758-G-A c.2364C>T p.L788= Synonymous 19/29 - 1
6-131919758-G-C c.2364C>G p.L788= Synonymous 19/29 - 2
6-131919758-G-T c.2364C>A p.L788= Synonymous 19/29 - 1
6-131919767-G-A c.2355C>T p.S785= Synonymous 19/29 - 1
6-131919768-G-A c.2354C>T p.S785F Missense 19/29 - 2
6-131919778-T-C c.2344A>G p.M782V Missense 19/29 - 1
6-131919780-G-A c.2342C>T p.S781F Missense 19/29 - 1
6-131919782-G-A c.2340C>T p.F780= Synonymous 19/29 - 1
6-131919783-A-G c.2339T>C p.F780S Missense 19/29 - 1
6-131919785-G-C c.2337C>G p.H779Q Missense 19/29 - 2
6-131919785-G-T c.2337C>A p.H779Q Missense 19/29 - 1
6-131919805-C-T c.2317G>A p.E773K Missense 19/29 - 2
6-131919807-T-A c.2315A>T p.N772I Missense 19/29 - 1
6-131919811-T-C c.2311A>G p.S771G Missense 19/29 - 1
6-131919812-C-A c.2310G>T p.M770I Missense 19/29 - 1
6-131919812-C-G c.2310G>C p.M770I Missense 19/29 - 1
6-131919812-C-T c.2310G>A p.M770I Missense 19/29 - 1
6-131919813-AT-GC c.2308_2309delinsGC p.M770A Missense 19/29 - 1
6-131919816-G-C c.2306C>G p.S769* Nonsense 19/29 - 1
6-131919816-G-T c.2306C>A p.S769* Nonsense 19/29 - 1
6-131919824-C-A c.2298G>T p.K766N Missense 19/29 - 1
6-131919835-C-A c.2287G>T p.E763* Nonsense 19/29 - 1
6-131919835-C-T c.2287G>A p.E763K Missense 19/29 - 2
6-131919841-C-T c.2281G>A p.E761K Missense 19/29 - 1
6-131919842-C-A c.2280G>T p.V760= Synonymous 19/29 - 2
6-131919842-CAC-GAT c.2278_2280delinsATC p.V760I Missense 19/29 - 1
6-131919845-A-C c.2277T>G p.N759K Missense 19/29 - 1
6-131919845-A-T c.2277T>A p.N759K Missense 19/29 - 1
6-131919847-T-TA c.2274_2275insT p.N759* Nonsense 19/29 - 1
6-131919845-A-AT c.2276dup p.N759Kfs*7 Frameshift 19/29 - 4
6-131919845-AT-A c.2276del p.N759Mfs*12 Frameshift 19/29 - 6
6-131919856-G-T c.2266C>A p.L756M Missense 19/29 - 1
6-131919858-T-A c.2264A>T p.N755I Missense 19/29 - 1
6-131919861-A-C c.2261T>G p.F754C Missense 19/29 - 1
6-131919865-G-A c.2257C>T p.R753C Missense 19/29 - 1
6-131919867-C-T c.2255G>A p.S752N Missense 19/29 - 1
6-131919869-T-C c.2253A>G p.E751= Synonymous 19/29 - 1
6-131919871-C-T c.2251G>A p.E751K Missense 19/29 - 1
6-131919874-G-A c.2248C>T p.Q750* Nonsense 19/29 - 1
6-131919874-G-C c.2248C>G p.Q750E Missense 19/29 - 1
6-131919877-G-A c.2245C>T p.P749S Missense 19/29 - 1
6-131919888-T-C c.2234A>G p.Q745R Missense 19/29 - 1
6-131919995-C-T c.2221-94G>A - IntronicSNV - 18/28 1
6-131921124-G-A c.2220+54C>T - IntronicSNV - 18/28 1
6-131921180-G-A c.2218C>T p.Q740* Nonsense 18/29 - 2
6-131921189-C-A c.2209G>T p.G737C Missense 18/29 - 1
6-131921198-A-C c.2200T>G p.C734G Missense 18/29 - 1
6-131921200-C-T c.2198G>A p.S733N Missense 18/29 - 3
6-131921202-C-A c.2196G>T p.L732= Synonymous 18/29 - 1
6-131921202-C-G c.2196G>C p.L732= Synonymous 18/29 - 1
6-131921202-C-T c.2196G>A p.L732= Synonymous 18/29 - 1
6-131921204-G-A c.2194C>T p.L732= Synonymous 18/29 - 1
6-131921203-A-C c.2195T>G p.L732R Missense 18/29 - 1
6-131921227-G-A c.2171C>T p.P724L Missense 18/29 - 1
6-131921227-G-T c.2171C>A p.P724H Missense 18/29 - 1
6-131921232-G-C c.2166C>G p.F722L Missense 18/29 - 1
6-131921232-G-T c.2166C>A p.F722L Missense 18/29 - 1
6-131921234-A-G c.2164T>C p.F722L Missense 18/29 - 1
6-131921247-C-A c.2151G>T p.Q717H Missense 18/29 - 1
6-131921249-G-A c.2149C>T p.Q717* Nonsense 18/29 - 4
6-131921255-T-C c.2143A>G p.I715V Missense 18/29 - 1
6-131921258-C-T c.2140G>A p.D714N Missense 18/29 - 1
6-131921259-T-C c.2139A>G p.K713= Synonymous 18/29 - 1
6-131921262-A-G c.2136T>C p.C712= Synonymous 18/29 - 1
6-131921271-TC-T c.2126del p.G709Efs*12 Frameshift 18/29 - 1
6-131921281-G-A c.2117C>T p.S706L Missense 18/29 - 1
6-131921285-C-T c.2113G>A p.D705N Missense 18/29 - 1
6-131921290-C-A c.2108G>T p.G703V Missense 18/29 - 2
6-131921297-A-C c.2101T>G p.F701V Missense 18/29 - 1
6-131921294-TA-T c.2103del p.F701Lfs*20 Frameshift 18/29 - 1
6-131923283-C-T c.2095+75G>A - IntronicSNV - 17/28 1
6-131923321-T-C c.2095+37A>G - IntronicSNV - 17/28 1
6-131923359-T-G c.2094A>C p.T698= Synonymous 17/29 - 1
6-131923366-T-C c.2087A>G p.H696R Missense 17/29 - 1
6-131923371-T-TG c.2081dup p.T695Nfs*11 Frameshift 17/29 - 1
6-131923374-T-A c.2079A>T p.R693S Missense 17/29 - 1
6-131923374-T-G c.2079A>C p.R693S Missense 17/29 - 1
6-131923375-C-G c.2078G>C p.R693T Missense 17/29 - 1
6-131923378-G-A c.2075C>T p.A692V Missense 17/29 - 3
6-131923386-C-G c.2067G>C p.L689F Missense 17/29 - 1
6-131923389-T-A c.2064A>T p.I688= Synonymous 17/29 - 1
6-131923390-A-T c.2063T>A p.I688K Missense 17/29 - 1
6-131923393-A-C c.2060T>G p.L687W Missense 17/29 - 1
6-131923400-G-A c.2053C>T p.R685* Nonsense 17/29 - 1
6-131923400-G-C c.2053C>G p.R685G Missense 17/29 - 1
6-131923400-G-T c.2053C>A p.R685= Synonymous 17/29 - 1
6-131923409-C-A c.2044G>T p.E682* Nonsense 17/29 - 2
6-131923418-C-T c.2035G>A p.E679K Missense 17/29 - 1
6-131923421-C-T c.2032G>A p.A678T Missense 17/29 - 2
6-131923423-G-A c.2030C>T p.S677L Missense 17/29 - 1
6-131923424-A-T c.2029T>A p.S677T Missense 17/29 - 1
6-131923425-G-A c.2028C>T p.L676= Synonymous 17/29 - 2
6-131923425-G-C c.2028C>G p.L676= Synonymous 17/29 - 1
6-131923425-G-T c.2028C>A p.L676= Synonymous 17/29 - 1
6-131923432-G-A c.2021C>T p.T674I Missense 17/29 - 1
6-131923437-G-A c.2016C>T p.P672= Synonymous 17/29 - 1
6-131923437-G-C c.2016C>G p.P672= Synonymous 17/29 - 1
6-131923437-G-T c.2016C>A p.P672= Synonymous 17/29 - 1
6-131923439-G-A c.2014C>T p.P672S Missense 17/29 - 2
6-131923440-GAT-G c.2012_2013del p.D671Afs*10 Frameshift 17/29 - 1
6-131923449-G-A c.2004C>T p.F668= Synonymous 17/29 - 2
6-131923452-G-A c.2001C>T p.R667= Synonymous 17/29 - 1
6-131923452-G-C c.2001C>G p.R667= Synonymous 17/29 - 1
6-131923452-G-T c.2001C>A p.R667= Synonymous 17/29 - 1
6-131923462-T-C c.1991A>G p.Q664R Missense 17/29 - 1
6-131923468-T-G c.1985A>C p.Q662P Missense 17/29 - 1
6-131923469-G-A c.1984C>T p.Q662* Nonsense 17/29 - 1
6-131923469-G-T c.1984C>A p.Q662K Missense 17/29 - 1
6-131923472-C-A c.1981G>T p.V661L Missense 17/29 - 2
6-131923472-C-G c.1981G>C p.V661L Missense 17/29 - 1
6-131923477-G-C c.1976C>G p.S659* Nonsense 17/29 - 1
6-131923477-G-T c.1976C>A p.S659* Nonsense 17/29 - 1
6-131923480-C-A c.1973G>T p.S658I Missense 17/29 - 1
6-131923480-C-T c.1973G>A p.S658N Missense 17/29 - 1
6-131923492-G-A c.1961C>T p.T654I Missense 17/29 - 1
6-131923492-G-T c.1961C>A p.T654K Missense 17/29 - 1
6-131923493-TTA-T c.1958_1959del p.I653Nfs*5 Frameshift 17/29 - 1
6-131923496-T-C c.1957A>G p.I653V Missense 17/29 - 1
6-131923496-T-G c.1957A>C p.I653L Missense 17/29 - 1
6-131923500-CCT-ATG c.1951_1953delinsCAT p.R651H Missense 17/29 - 1
6-131923500-C-T c.1953G>A p.R651= Synonymous 17/29 - 1
6-131923511-T-C c.1942A>G p.T648A Missense 17/29 - 1
6-131923516-T-C c.1937A>G p.E646G Missense 17/29 - 1
6-131923517-C-T c.1936G>A p.E646K Missense 17/29 - 2
6-131923519-A-G c.1934T>C p.V645A Missense 17/29 - 1
6-131923520-C-A c.1933G>T p.V645F Missense 17/29 - 1
6-131924070-T-A c.1931+100A>T - IntronicSNV - 16/28 1
6-131924071-A-T c.1931+99T>A - IntronicSNV - 16/28 1
6-131924070-TA-T c.1931+99del - IntronicDeletion - 16/28 1
6-131924096-T-A c.1931+74A>T - IntronicSNV - 16/28 1
6-131924170-C-T c.1931G>A p.C644Y Missense 16/29 - 2
6-131924178-G-A c.1923C>T p.L641= Synonymous 16/29 - 1
6-131924178-G-C c.1923C>G p.L641= Synonymous 16/29 - 1
6-131924178-G-T c.1923C>A p.L641= Synonymous 16/29 - 1
6-131924181-C-A c.1920G>T p.Q640H Missense 16/29 - 1
6-131924182-T-C c.1919A>G p.Q640R Missense 16/29 - 3
6-131924186-T-C c.1915A>G p.N639D Missense 16/29 - 1
6-131924187-C-A c.1914G>T p.Q638H Missense 16/29 - 1
6-131924187-C-G c.1914G>C p.Q638H Missense 16/29 - 1
6-131924189-G-A c.1912C>T p.Q638* Nonsense 16/29 - 2
6-131924192-T-G c.1909A>C p.N637H Missense 16/29 - 1
6-131924198-G-A c.1903C>T p.Q635* Nonsense 16/29 - 1
6-131924211-C-T c.1890G>A p.L630= Synonymous 16/29 - 1
6-131924212-A-G c.1889T>C p.L630S Missense 16/29 - 1
6-131924219-G-A c.1882C>T p.H628Y Missense 16/29 - 2
6-131924229-CAG-AAA c.1870_1872delinsTTT p.L624F Missense 16/29 - 1
6-131924232-G-A c.1869C>T p.L623= Synonymous 16/29 - 3
6-131924237-G-A c.1864C>T p.Q622* Nonsense 16/29 - 1
6-131924237-G-C c.1864C>G p.Q622E Missense 16/29 - 1
6-131924250-AG-TT c.1850_1851delinsAA p.P617Q Missense 16/29 - 2
6-131924251-G-T c.1850C>A p.P617H Missense 16/29 - 2
6-131924252-G-A c.1849C>T p.P617S Missense 16/29 - 2
6-131924255-G-A c.1846C>T p.Q616* Nonsense 16/29 - 1
6-131924256-A-G c.1845T>C p.I615= Synonymous 16/29 - 2
6-131924256-A-T c.1845T>A p.I615= Synonymous 16/29 - 2
6-131924267-T-G c.1834A>C p.M612L Missense 16/29 - 1
6-131924268-C-T c.1833G>A p.R611= Synonymous 16/29 - 3
6-131924269-C-G c.1832G>C p.R611P Missense 16/29 - 2
6-131924269-C-T c.1832G>A p.R611Q Missense 16/29 - 5
6-131924270-G-A c.1831C>T p.R611W Missense 16/29 - 1
6-131924284-T-G c.1817A>C p.E606A Missense 16/29 - 1
6-131924286-A-C c.1815T>G p.L605= Synonymous 16/29 - 1
6-131924286-A-G c.1815T>C p.L605= Synonymous 16/29 - 1
6-131924286-A-T c.1815T>A p.L605= Synonymous 16/29 - 1
6-131924292-T-C c.1809A>G p.T603= Synonymous 16/29 - 1
6-131924292-T-G c.1809A>C p.T603= Synonymous 16/29 - 1
6-131924300-A-C c.1801T>G p.L601V Missense 16/29 - 1
6-131924302-A-C c.1799T>G p.I600S Missense 16/29 - 2
6-131924304-CC-GT c.1796_1797delinsAC p.G599D Missense 16/29 - 2
6-131924304-C-T c.1797G>A p.G599= Synonymous 16/29 - 1
6-131924307-C-A c.1794G>T p.W598C Missense 16/29 - 2
6-131924307-C-G c.1794G>C p.W598C Missense 16/29 - 1
6-131924307-C-T c.1794G>A p.W598* Nonsense 16/29 - 1
6-131924308-C-A c.1793G>T p.W598L Missense 16/29 - 1
6-131924308-C-T c.1793G>A p.W598* Nonsense 16/29 - 1
6-131924310-T-C c.1791A>G p.A597= Synonymous 16/29 - 1
6-131924325-A-G c.1776T>C p.V592= Synonymous 16/29 - 1
6-131924326-A-ATGATAAATCCTTTGATGCCCAAAGACTCTATTTCCATATAGACCAATAAACGACTGTAAGTTTCCACTAGGG c.1774_1775insCCCTAGTGGAAACTTACAGTCGTTTATTGGTCTATATGGAAATAGAGTCTTTGGGCATCAAAGGATTTATCA p.V592delinsALVETYSRLLVYMEIESLGIKGFII MultiAAMissense 16/29 - 1
6-131924333-G-C c.1768C>G p.P590A Missense 16/29 - 1
6-131924333-G-T c.1768C>A p.P590T Missense 16/29 - 1
6-131924343-A-G c.1758T>C p.S586= Synonymous 16/29 - 1
6-131924689-G-A c.1757-345C>T - IntronicSNV - 15/28 1
6-131924689-G-T c.1757-345C>A - IntronicSNV - 15/28 1
6-131924962-G-C c.1756+356C>G - IntronicSNV - 15/28 1
6-131925327-C-A c.1747G>T p.G583* Nonsense 15/29 - 1
6-131925327-C-T c.1747G>A p.G583R Missense 15/29 - 1
6-131925337-C-G c.1737G>C p.L579F Missense 15/29 - 1
6-131925343-C-T c.1731G>A p.E577= Synonymous 15/29 - 1
6-131925352-C-T c.1722G>A p.M574I Missense 15/29 - 1
6-131925354-T-G c.1720A>C p.M574L Missense 15/29 - 1
6-131925356-T-C c.1718A>G p.Y573C Missense 15/29 - 8
6-131925358-G-A c.1716C>T p.V572= Synonymous 15/29 - 1
6-131925359-A-T c.1715T>A p.V572D Missense 15/29 - 4
6-131925366-A-C c.1708T>G p.L570V Missense 15/29 - 3
6-131925368-CG-AT c.1705_1706delinsAT p.R569I Missense 15/29 - 1
6-131925369-G-A c.1705C>T p.R569C Missense 15/29 - 3
6-131925369-G-T c.1705C>A p.R569S Missense 15/29 - 1
6-131925372-T-G c.1702A>C p.S568R Missense 15/29 - 1
6-131925388-G-A c.1686C>T p.A562= Synonymous 15/29 - 2
6-131925388-G-C c.1686C>G p.A562= Synonymous 15/29 - 1
6-131925388-G-T c.1686C>A p.A562= Synonymous 15/29 - 1
6-131925397-C-A c.1677G>T p.L559F Missense 15/29 - 1
6-131925398-A-G c.1676T>C p.L559S Missense 15/29 - 1
6-131925399-A-C c.1675T>G p.L559V Missense 15/29 - 1
6-131925401-G-T c.1673C>A p.A558D Missense 15/29 - 1
6-131925412-C-A c.1662G>T p.K554N Missense 15/29 - 1
6-131925412-C-G c.1662G>C p.K554N Missense 15/29 - 1
6-131925414-T-G c.1660A>C p.K554Q Missense 15/29 - 1
6-131925426-G-C c.1648C>G p.L550V Missense 15/29 - 1
6-131925433-C-T c.1641G>A p.V547= Synonymous 15/29 - 1
6-131925435-C-A c.1639G>T p.V547L Missense 15/29 - 1
6-131925439-G-A c.1635C>T p.T545= Synonymous 15/29 - 1
6-131925440-G-A c.1634C>T p.T545I Missense 15/29 - 2
6-131925441-T-G c.1633A>C p.T545P Missense 15/29 - 1
6-131925447-T-C c.1627A>G p.I543V Missense 15/29 - 1
6-131925448-G-A c.1626C>T p.S542= Synonymous 15/29 - 1
6-131925451-G-A c.1623C>T p.H541= Synonymous 15/29 - 1
6-131926125-GA-G c.1613+254del - IntronicDeletion - 14/28 1
6-131926180-A-T c.1613+200T>A - IntronicSNV - 14/28 1
6-131926259-CT-C c.1613+120del - IntronicDeletion - 14/28 1
6-131926302-TA-T c.1613+77del - IntronicDeletion - 14/28 1
6-131926334-C-T c.1613+46G>A - IntronicSNV - 14/28 3
6-131926382-C-A c.1611G>T p.M537I Missense 14/29 - 1
6-131926382-C-G c.1611G>C p.M537I Missense 14/29 - 1
6-131926384-T-C c.1609A>G p.M537V Missense 14/29 - 1
6-131926385-T-C c.1608A>G p.K536= Synonymous 14/29 - 1
6-131926390-C-A c.1603G>T p.A535S Missense 14/29 - 1
6-131926392-T-G c.1601A>C p.H534P Missense 14/29 - 1
6-131926393-G-T c.1600C>A p.H534N Missense 14/29 - 1
6-131926396-C-A c.1597G>T p.V533F Missense 14/29 - 5
6-131926405-A-C c.1588T>G p.S530A Missense 14/29 - 1
6-131926406-A-C c.1587T>G p.D529E Missense 14/29 - 1
6-131926408-C-T c.1585G>A p.D529N Missense 14/29 - 1
6-131926415-G-A c.1578C>T p.N526= Synonymous 14/29 - 1
6-131926419-A-G c.1574T>C p.M525T Missense 14/29 - 1
6-131926420-T-C c.1573A>G p.M525V Missense 14/29 - 1
6-131926422-G-A c.1571C>T p.P524L Missense 14/29 - 1
6-131926427-GG-TT c.1565_1566delinsAA p.P522Q Missense 14/29 - 1
6-131926428-G-A c.1565C>T p.P522L Missense 14/29 - 2
6-131926435-T-C c.1558A>G p.I520V Missense 14/29 - 2
6-131926441-C-A c.1552G>T p.G518* Nonsense 14/29 - 1
6-131926441-C-T c.1552G>A p.G518R Missense 14/29 - 1
6-131926446-G-A c.1547C>T p.A516V Missense 14/29 - 1
6-131926449-A-T c.1544T>A p.M515K Missense 14/29 - 1
6-131926459-T-C c.1534A>G p.T512A Missense 14/29 - 1
6-131926471-G-A c.1522C>T p.P508S Missense 14/29 - 1
6-131926475-C-G c.1518G>C p.R506S Missense 14/29 - 1
6-131926484-TCC-ACA c.1507_1509delinsTGT p.G503C Missense 14/29 - 1
6-131926491-C-A c.1502G>T p.G501V Missense 14/29 - 1
6-131926491-C-T c.1502G>A p.G501E Missense 14/29 - 1
6-131926497-A-C c.1496T>G p.I499S Missense 14/29 - 1
6-131926500-G-A c.1493C>T p.T498I Missense 14/29 - 1
6-131926504-C-A c.1489G>T p.E497* Nonsense 14/29 - 3
6-131926510-G-A c.1483C>T p.L495= Synonymous 14/29 - 1
6-131926512-G-C c.1481C>G p.A494G Missense 14/29 - 1
6-131926513-C-T c.1480G>A p.A494T Missense 14/29 - 3
6-131926521-G-C c.1472C>G p.P491R Missense 14/29 - 1
6-131926528-T-C c.1465A>G p.T489A Missense 14/29 - 1
6-131926529-A-C c.1464T>G p.F488L Missense 14/29 - 1
6-131926529-A-G c.1464T>C p.F488= Synonymous 14/29 - 1
6-131926537-C-T c.1456G>A p.E486K Missense 14/29 - 1
6-131926539-G-A c.1454C>T p.S485L Missense 14/29 - 1
6-131926547-A-C c.1446T>G p.S482= Synonymous 14/29 - 1
6-131926550-G-A c.1443C>T p.Y481= Synonymous 14/29 - 2
6-131926555-C-A c.1438G>T p.A480S Missense 14/29 - 2
6-131926555-C-T c.1438G>A p.A480T Missense 14/29 - 2
6-131926556-A-G c.1437T>C p.N479= Synonymous 14/29 - 1
6-131926569-G-A c.1424C>T p.A475V Missense 14/29 - 1
6-131926570-CA-C c.1422del p.I474Mfs*23 Frameshift 14/29 - 1
6-131926586-TC-T c.1407del p.M469Ifs*28 Frameshift 14/29 - 1
6-131926595-A-G c.1398T>C p.S466= Synonymous 14/29 - 1
6-131926596-CT-AA c.1396_1397delinsTT p.S466F Missense 14/29 - 2
6-131926602-T-A c.1391A>T p.N464I Missense 14/29 - 1
6-131926607-T-C c.1386A>G p.L462= Synonymous 14/29 - 1
6-131926608-A-G c.1385T>C p.L462P Missense 14/29 - 2
6-131926611-CT-AA c.1381_1382delinsTT p.S461F Missense 14/29 - 1
6-131926613-C-G c.1380G>C p.Q460H Missense 14/29 - 1
6-131926616-C-T c.1377G>A p.Q459= Synonymous 14/29 - 1
6-131926619-C-G c.1374G>C p.L458= Synonymous 14/29 - 1
6-131926622-G-A c.1371C>T p.F457= Synonymous 14/29 - 1
6-131926712-C-T c.1368-87G>A - IntronicSNV - 13/28 1
6-131927622-T-C c.1364A>G p.H455R Missense 13/29 - 1
6-131927623-G-A c.1363C>T p.H455Y Missense 13/29 - 1
6-131927625-T-C c.1361A>G p.H454R Missense 13/29 - 1
6-131927626-G-A c.1360C>T p.H454Y Missense 13/29 - 1
6-131927628-A-G c.1358T>C p.L453P Missense 13/29 - 2
6-131927630-T-C c.1356A>G p.R452= Synonymous 13/29 - 1
6-131927630-TCT-ACA c.1354_1356delinsTGT p.R452C Missense 13/29 - 1
6-131927632-T-G c.1354A>C p.R452= Synonymous 13/29 - 1
6-131927632-T-A c.1354A>T p.R452* Nonsense 13/29 - 1
6-131927636-G-A c.1350C>T p.S450= Synonymous 13/29 - 4
6-131927636-G-C c.1350C>G p.S450= Synonymous 13/29 - 1
6-131927636-G-T c.1350C>A p.S450= Synonymous 13/29 - 1
6-131927637-G-A c.1349C>T p.S450F Missense 13/29 - 5
6-131927640-TG-CC c.1345_1346delinsGG p.H449G Missense 13/29 - 1
6-131927647-T-C c.1339A>G p.I447V Missense 13/29 - 1
6-131927648-T-A c.1338A>T p.P446= Synonymous 13/29 - 1
6-131927648-T-C c.1338A>G p.P446= Synonymous 13/29 - 1
6-131927648-T-G c.1338A>C p.P446= Synonymous 13/29 - 1
6-131927658-A-G c.1328T>C p.L443P Missense 13/29 - 1
6-131927659-G-A c.1327C>T p.L443= Synonymous 13/29 - 1
6-131927661-T-G c.1325A>C p.K442T Missense 13/29 - 1
6-131927662-T-C c.1324A>G p.K442E Missense 13/29 - 1
6-131927663-G-A c.1323C>T p.S441= Synonymous 13/29 - 1
6-131927663-G-C c.1323C>G p.S441= Synonymous 13/29 - 1
6-131927663-G-T c.1323C>A p.S441= Synonymous 13/29 - 1
6-131927666-G-A c.1320C>T p.N440= Synonymous 13/29 - 3
6-131927666-G-C c.1320C>G p.N440K Missense 13/29 - 1
6-131927666-G-T c.1320C>A p.N440K Missense 13/29 - 1
6-131927674-T-C c.1312A>G p.N438D Missense 13/29 - 1
6-131927677-G-A c.1309C>T p.Q437* Nonsense 13/29 - 3
6-131927678-A-C c.1308T>G p.A436= Synonymous 13/29 - 2
6-131927678-A-G c.1308T>C p.A436= Synonymous 13/29 - 2
6-131927678-A-T c.1308T>A p.A436= Synonymous 13/29 - 2
6-131927686-T-A c.1300A>T p.R434* Nonsense 13/29 - 1
6-131927688-T-C c.1298A>G p.N433S Missense 13/29 - 1
6-131927689-T-C c.1297A>G p.N433D Missense 13/29 - 2
6-131927695-G-T c.1291C>A p.H431N Missense 13/29 - 1
6-131927697-A-G c.1289T>C p.I430T Missense 13/29 - 1
6-131927697-A-T c.1289T>A p.I430N Missense 13/29 - 1
6-131927708-G-T c.1278delinsA p.T426T Missense 13/29 - 1
6-131927709-G-A c.1277C>T p.T426I Missense 13/29 - 1
6-131927713-T-A c.1273A>T p.M425L Missense 13/29 - 1
6-131927713-T-C c.1273A>G p.M425V Missense 13/29 - 1
6-131927715-G-A c.1271C>T p.A424V Missense 13/29 - 1
6-131927730-G-T c.1256C>A p.S419* Nonsense 13/29 - 1
6-131927732-C-A c.1254G>T p.Q418H Missense 13/29 - 1
6-131927732-C-G c.1254G>C p.Q418H Missense 13/29 - 1
6-131927734-G-T c.1252C>A p.Q418K Missense 13/29 - 1
6-131927736-G-C c.1250C>G p.P417R Missense 13/29 - 1
6-131927737-G-A c.1249C>T p.P417S Missense 13/29 - 1
6-131927743-T-C c.1243A>G p.N415D Missense 13/29 - 1
6-131927744-A-G c.1242T>C p.I414= Synonymous 13/29 - 2
6-131927744-A-T c.1242T>A p.I414= Synonymous 13/29 - 2
6-131927745-A-G c.1241T>C p.I414T Missense 13/29 - 1
6-131927757-G-A c.1229C>T p.P410L Missense 13/29 - 2
6-131927758-G-A c.1228C>T p.P410S Missense 13/29 - 2
6-131927760-A-G c.1226T>C p.I409T Missense 13/29 - 1
6-131927761-T-C c.1225A>G p.I409V Missense 13/29 - 1
6-131929070-C-G c.1219G>C p.E407Q Missense 12/29 - 3
6-131929072-T-G c.1217A>C p.K406T Missense 12/29 - 1
6-131929079-G-T c.1210C>A p.P404T Missense 12/29 - 2
6-131929089-G-C c.1200C>G p.D400E Missense 12/29 - 1
6-131929089-G-T c.1200C>A p.D400E Missense 12/29 - 1
6-131929090-GT-G c.1199del p.D400Afs*26 Frameshift 12/29 - 1
6-131929091-C-T c.1198G>A p.D400N Missense 12/29 - 2
6-131929092-G-A c.1197C>T p.F399= Synonymous 12/29 - 1
6-131929095-G-A c.1194C>T p.L398= Synonymous 12/29 - 2
6-131929095-G-C c.1194C>G p.L398= Synonymous 12/29 - 1
6-131929095-G-T c.1194C>A p.L398= Synonymous 12/29 - 1
6-131929097-G-C c.1192C>G p.L398V Missense 12/29 - 1
6-131929101-C-A c.1188G>T p.M396I Missense 12/29 - 1
6-131929101-C-G c.1188G>C p.M396I Missense 12/29 - 1
6-131929101-C-T c.1188G>A p.M396I Missense 12/29 - 1
6-131929104-C-G c.1185G>C p.V395= Synonymous 12/29 - 1
6-131929106-C-A c.1183G>T p.V395L Missense 12/29 - 1
6-131929108-G-A c.1181C>T p.P394L Missense 12/29 - 1
6-131929108-G-T c.1181C>A p.P394H Missense 12/29 - 1
6-131929119-AGC-TTA c.1168_1170delinsTAA p.A390* Nonsense 12/29 - 1
6-131929128-A-T c.1161T>A p.N387K Missense 12/29 - 1
6-131929138-A-G c.1151T>C p.I384T Missense 12/29 - 1
6-131929139-T-C c.1150A>G p.I384V Missense 12/29 - 1
6-131929143-TC-T c.1145del p.G382Efs*8 Frameshift 12/29 - 1
6-131929147-G-A c.1142C>T p.S381F Missense 12/29 - 1
6-131929148-A-G c.1141T>C p.S381P Missense 12/29 - 1
6-131929150-A-T c.1139T>A p.I380N Missense 12/29 - 1
6-131929152-G-A c.1137C>T p.F379= Synonymous 12/29 - 2
6-131929152-G-C c.1137C>G p.F379L Missense 12/29 - 1
6-131929152-G-T c.1137C>A p.F379L Missense 12/29 - 1
6-131929154-A-G c.1135T>C p.F379L Missense 12/29 - 1
6-131929167-C-T c.1122G>A p.W374* Nonsense 12/29 - 1
6-131929168-C-A c.1121G>T p.W374L Missense 12/29 - 1
6-131929170-C-T c.1119G>A p.M373I Missense 12/29 - 1
6-131929173-A-G c.1116T>C p.L372= Synonymous 12/29 - 1
6-131929178-G-T c.1111C>A p.H371N Missense 12/29 - 1
6-131929180-T-G c.1109A>C p.D370A Missense 12/29 - 1
6-131929183-CT-TG c.1105_1106delinsCA p.R369Q Missense 12/29 - 1
6-131929184-T-TA c.1104_1105insT p.R369* Nonsense 12/29 - 1
6-131929185-G-C c.1104C>G p.G368= Synonymous 12/29 - 1
6-131929185-GCC-TCA c.1102_1104delinsTGA p.G368* Nonsense 12/29 - 1
6-131929186-C-G c.1103G>C p.G368A Missense 12/29 - 2
6-131929191-A-G c.1098T>C p.I366= Synonymous 12/29 - 1
6-131929195-A-G c.1094T>C p.L365P Missense 12/29 - 2
6-131929196-G-C c.1093C>G p.L365V Missense 12/29 - 1
6-131929201-C-T c.1088G>A p.R363Q Missense 12/29 - 1
6-131929202-G-A c.1087C>T p.R363* Nonsense 12/29 - 1
6-131929207-G-A c.1082C>T p.A361V Missense 12/29 - 1
6-131929208-C-A c.1081G>T p.A361S Missense 12/29 - 1
6-131929210-A-C c.1079T>G p.L360* Nonsense 12/29 - 1
6-131929210-A-T c.1079T>A p.L360* Nonsense 12/29 - 1
6-131929272-G-GT c.1078-62dup - IntronicInsertion - 11/28 1
6-131929309-A-AC c.1078-99dup - IntronicInsertion - 11/28 3
6-131930873-CATATATATATATGT-C c.1077+299_1077+312del - IntronicDeletion - 11/28 1
6-131931028-G-C c.1077+158C>G - IntronicSNV - 11/28 1
6-131931092-T-C c.1077+94A>G - IntronicSNV - 11/28 5
6-131931187-T-A c.1076A>T p.K359M Missense 11/29 - 1
6-131931193-T-C c.1070A>G p.H357R Missense 11/29 - 2
6-131931194-G-A c.1069C>T p.H357Y Missense 11/29 - 2
6-131931196-A-T c.1067T>A p.L356H Missense 11/29 - 1
6-131931197-G-A c.1066C>T p.L356F Missense 11/29 - 1
6-131931198-A-C c.1065T>G p.S355= Synonymous 11/29 - 1
6-131931198-A-G c.1065T>C p.S355= Synonymous 11/29 - 1
6-131931198-A-T c.1065T>A p.S355= Synonymous 11/29 - 1
6-131931203-G-A c.1060C>T p.L354F Missense 11/29 - 1
6-131931203-G-T c.1060C>A p.L354I Missense 11/29 - 1
6-131931206-C-A c.1057G>T p.V353L Missense 11/29 - 1
6-131931209-T-A c.1054A>T p.M352L Missense 11/29 - 1
6-131931209-T-G c.1054A>C p.M352L Missense 11/29 - 1
6-131931210-A-T c.1053T>A p.H351Q Missense 11/29 - 1
6-131931212-G-A c.1051C>T p.H351Y Missense 11/29 - 3
6-131931214-G-T c.1049C>A p.P350Q Missense 11/29 - 1
6-131931226-A-G c.1037T>C p.F346S Missense 11/29 - 1
6-131931225-A-C c.1038T>G p.F346L Missense 11/29 - 1
6-131931225-A-T c.1038T>A p.F346L Missense 11/29 - 1
6-131931227-A-G c.1036T>C p.F346L Missense 11/29 - 1
6-131931243-G-C c.1020C>G p.F340L Missense 11/29 - 1
6-131931243-G-T c.1020C>A p.F340L Missense 11/29 - 1
6-131931245-A-G c.1018T>C p.F340L Missense 11/29 - 1
6-131931246-A-C c.1017T>G p.I339M Missense 11/29 - 1
6-131931247-A-C c.1016T>G p.I339S Missense 11/29 - 2
6-131931250-A-G c.1013T>C p.L338P Missense 11/29 - 1
6-131931254-G-T c.1009C>A p.Q337K Missense 11/29 - 1
6-131931255-A-C c.1008T>G p.S336R Missense 11/29 - 1
6-131931255-A-T c.1008T>A p.S336R Missense 11/29 - 1
6-131931257-T-G c.1006A>C p.S336R Missense 11/29 - 1
6-131931259-G-A c.1004C>T p.S335L Missense 11/29 - 1
6-131931265-T-C c.998A>G p.H333R Missense 11/29 - 1
6-131931266-G-A c.997C>T p.H333Y Missense 11/29 - 1
6-131931271-C-T c.992G>A p.W331* Nonsense 11/29 - 1
6-131931276-G-A c.987C>T p.L329= Synonymous 11/29 - 4
6-131931276-G-C c.987C>G p.L329= Synonymous 11/29 - 1
6-131931276-G-T c.987C>A p.L329= Synonymous 11/29 - 2
6-131931290-C-G c.973G>C p.G325R Missense 11/29 - 1
6-131931290-C-T c.973G>A p.G325R Missense 11/29 - 2
6-131931291-C-A c.972G>T p.G324= Synonymous 11/29 - 1
6-131931291-C-G c.972G>C p.G324= Synonymous 11/29 - 1
6-131931291-C-T c.972G>A p.G324= Synonymous 11/29 - 1
6-131931288-TC-T c.974del p.G325Efs*36 Frameshift 11/29 - 2
6-131931293-C-A c.970G>T p.G324W Missense 11/29 - 1
6-131931296-C-A c.967G>T p.D323Y Missense 11/29 - 1
6-131931296-C-T c.967G>A p.D323N Missense 11/29 - 1
6-131931298-T-C c.965A>G p.D322G Missense 11/29 - 1
6-131931299-C-G c.964G>C p.D322H Missense 11/29 - 1
6-131931322-C-T c.941G>A p.R314Q Missense 11/29 - 1
6-131931326-C-T c.937G>A p.E313K Missense 11/29 - 1
6-131931331-G-A c.932C>T p.A311V Missense 11/29 - 1
6-131931340-A-C c.923T>G p.V308G Missense 11/29 - 1
6-131931365-G-A c.898C>T p.L300= Synonymous 11/29 - 1
6-131931368-C-A c.895G>T p.V299L Missense 11/29 - 1
6-131931368-C-G c.895G>C p.V299L Missense 11/29 - 1
6-131931369-A-G c.894T>C p.P298= Synonymous 11/29 - 1
6-131931370-G-A c.893C>T p.P298L Missense 11/29 - 1
6-131931374-CA-C c.889del p.C297Afs*64 Frameshift 11/29 - 1
6-131931375-GCG-CTT c.886_888delinsAAG p.R296K Missense 11/29 - 1
6-131931376-C-T c.887G>A p.R296H Missense 11/29 - 1
6-131931377-G-A c.886C>T p.R296C Missense 11/29 - 4
6-131931381-C-T c.882G>A p.K294= Synonymous 11/29 - 1
6-131931605-C-A c.877-219G>T - IntronicSNV - 10/28 1
6-131934986-G-A c.876+2061C>T - IntronicSNV - 10/28 1
6-131934986-G-C c.876+2061C>G - IntronicSNV - 10/28 1
6-131935846-C-G c.876+1201G>C - IntronicSNV - 10/28 1
6-131935918-A-G c.876+1129T>C - IntronicSNV - 10/28 1
6-131936054-G-A c.876+993C>T - IntronicSNV - 10/28 1
6-131936324-GTTT-G c.876+720_876+722del - IntronicDeletion - 10/28 2
6-131936490-T-C c.876+557A>G - IntronicSNV - 10/28 1
6-131936536-G-A c.876+511C>T - IntronicSNV - 10/28 1
6-131936544-G-A c.876+503C>T - IntronicSNV - 10/28 1
6-131936737-A-G c.876+310T>C - IntronicSNV - 10/28 1
6-131936759-G-A c.876+288C>T - IntronicSNV - 10/28 1
6-131936789-T-G c.876+258A>C - IntronicSNV - 10/28 1
6-131936989-G-A c.876+58C>T - IntronicSNV - 10/28 1
6-131937054-T-C c.869A>G p.N290S Missense 10/29 - 1
6-131937064-G-A c.859C>T p.L287= Synonymous 10/29 - 1
6-131937067-T-C c.856A>G p.M286V Missense 10/29 - 1
6-131937070-T-G c.853A>C p.N285H Missense 10/29 - 2
6-131937080-A-G c.843T>C p.D281= Synonymous 10/29 - 2
6-131937087-G-C c.836C>G p.S279C Missense 10/29 - 8
6-131937093-G-A c.830C>T p.P277L Missense 10/29 - 4
6-131937094-G-A c.829C>T p.P277S Missense 10/29 - 1
6-131937097-G-A c.826C>T p.Q276* Nonsense 10/29 - 2
6-131937117-A-G c.806T>C p.L269S Missense 10/29 - 2
6-131937119-A-C c.804T>G p.A268= Synonymous 10/29 - 1
6-131937119-A-G c.804T>C p.A268= Synonymous 10/29 - 2
6-131937119-A-T c.804T>A p.A268= Synonymous 10/29 - 1
6-131937120-G-A c.803C>T p.A268V Missense 10/29 - 1
6-131937123-G-A c.800C>T p.T267I Missense 10/29 - 1
6-131937128-TG-T c.794del p.P265Hfs*6 Frameshift 10/29 - 2
6-131937137-CAG-AAA c.784_786delinsTTT p.L262F Missense 10/29 - 1
6-131937142-C-A c.781G>T p.D261Y Missense 10/29 - 1
6-131937142-C-G c.781G>C p.D261H Missense 10/29 - 1
6-131937142-C-T c.781G>A p.D261N Missense 10/29 - 1
6-131939547-C-T c.780G>A p.K260= Synonymous 9/29 - 1
6-131939551-T-G c.776A>C p.D259A Missense 9/29 - 1
6-131939555-A-G c.772T>C p.Y258H Missense 9/29 - 3
6-131939556-T-A c.771A>T p.P257= Synonymous 9/29 - 1
6-131939556-T-C c.771A>G p.P257= Synonymous 9/29 - 1
6-131939556-T-G c.771A>C p.P257= Synonymous 9/29 - 1
6-131939558-G-A c.769C>T p.P257S Missense 9/29 - 1
6-131939564-G-A c.763C>T p.L255F Missense 9/29 - 1
6-131939564-G-T c.763C>A p.L255I Missense 9/29 - 1
6-131939565-GC-G c.761del p.G254Afs*17 Frameshift 9/29 - 1
6-131939567-C-A c.760G>T p.G254C Missense 9/29 - 1
6-131939567-C-T c.760G>A p.G254S Missense 9/29 - 1
6-131939568-T-C c.759A>G p.K253= Synonymous 9/29 - 1
6-131939570-T-G c.757A>C p.K253Q Missense 9/29 - 1
6-131939575-G-A c.752C>T p.P251L Missense 9/29 - 2
6-131939576-G-A c.751C>T p.P251S Missense 9/29 - 1
6-131939581-C-T c.746G>A p.R249H Missense 9/29 - 5
6-131939582-G-A c.745C>T p.R249C Missense 9/29 - 2
6-131939584-A-T c.743T>A p.L248H Missense 9/29 - 1
6-131939590-G-A c.737C>T p.A246V Missense 9/29 - 2
6-131939596-T-C c.731A>G p.D244G Missense 9/29 - 1
6-131939600-G-T c.727C>A p.L243M Missense 9/29 - 1
6-131939608-G-C c.719C>G p.S240* Nonsense 9/29 - 1
6-131939608-G-T c.719C>A p.S240* Nonsense 9/29 - 1
6-131939611-T-A c.716A>T p.N239I Missense 9/29 - 1
6-131939611-T-C c.716A>G p.N239S Missense 9/29 - 1
6-131939617-A-C c.710T>G p.I237S Missense 9/29 - 1
6-131939618-T-C c.709A>G p.I237V Missense 9/29 - 1
6-131939620-G-A c.707C>T p.A236V Missense 9/29 - 2
6-131939623-C-A c.704G>T p.G235V Missense 9/29 - 1
6-131939623-C-T c.704G>A p.G235D Missense 9/29 - 2
6-131939625-C-T c.702G>A p.S234= Synonymous 9/29 - 1
6-131939626-G-A c.701C>T p.S234L Missense 9/29 - 7
6-131939632-T-C c.695A>G p.N232S Missense 9/29 - 1
6-131939639-C-T c.688G>A p.V230I Missense 9/29 - 1
6-131939643-C-A c.684G>T p.L228= Synonymous 9/29 - 1
6-131939644-A-G c.683T>C p.L228P Missense 9/29 - 1
6-131939645-G-C c.682C>G p.L228V Missense 9/29 - 1
6-131939648-G-C c.679C>G p.L227V Missense 9/29 - 1
6-131939655-G-A c.672C>T p.R224= Synonymous 9/29 - 1
6-131939655-G-C c.672C>G p.R224= Synonymous 9/29 - 1
6-131939655-G-T c.672C>A p.R224= Synonymous 9/29 - 1
6-131939657-G-C c.670C>G p.R224G Missense 9/29 - 3
6-131939657-G-T c.670C>A p.R224S Missense 9/29 - 2
6-131939974-C-A c.668-315G>T - IntronicSNV - 8/28 1
6-131940890-A-C c.667+77T>G - IntronicSNV - 8/28 3
6-131940974-G-A c.660C>T p.S220= Synonymous 8/29 - 2
6-131940983-C-T c.651G>A p.R217= Synonymous 8/29 - 2
6-131940985-T-G c.649A>C p.R217= Synonymous 8/29 - 1
6-131940984-C-A c.650G>T p.R217M Missense 8/29 - 1
6-131940984-C-T c.650G>A p.R217K Missense 8/29 - 1
6-131940984-CT-TG c.649_650delinsCA p.R217Q Missense 8/29 - 1
6-131940985-T-A c.649A>T p.R217W Missense 8/29 - 1
6-131940988-C-T c.646G>A p.A216T Missense 8/29 - 1
6-131940993-G-A c.641C>T p.P214L Missense 8/29 - 1
6-131940996-C-A c.638G>T p.R213M Missense 8/29 - 1
6-131940999-A-G c.635T>C p.F212S Missense 8/29 - 1
6-131941002-G-C c.632C>G p.T211S Missense 8/29 - 1
6-131941006-C-A c.628G>T p.D210Y Missense 8/29 - 1
6-131941009-C-T c.625G>A p.V209M Missense 8/29 - 1
6-131941010-A-G c.624T>C p.F208= Synonymous 8/29 - 1
6-131941015-C-T c.619G>A p.D207N Missense 8/29 - 1
6-131941030-C-T c.604G>A p.G202R Missense 8/29 - 1
6-131941034-T-A c.600A>T p.L200F Missense 8/29 - 1
6-131941034-T-G c.600A>C p.L200F Missense 8/29 - 1
6-131941096-G-A c.598-60C>T - IntronicSNV - 7/28 1
6-131941722-C-T c.597+46G>A - IntronicSNV - 7/28 1
6-131941767-C-A c.597+1G>T - IntronicSNV - 7/28 3
6-131941768-C-T c.597G>A p.W199* Nonsense 7/29 - 1
6-131941769-C-T c.596G>A p.W199* Nonsense 7/29 - 1
6-131941770-A-G c.595T>C p.W199R Missense 7/29 - 2
6-131941770-A-T c.595T>A p.W199R Missense 7/29 - 2
6-131941772-T-C c.593A>G p.H198R Missense 7/29 - 2
6-131941775-G-A c.590C>T p.P197L Missense 7/29 - 1
6-131941779-G-A c.586C>T p.L196F Missense 7/29 - 1
6-131941782-T-A c.583A>T p.K195* Nonsense 7/29 - 1
6-131941785-C-A c.580G>T p.G194C Missense 7/29 - 1
6-131941788-C-A c.577G>T p.E193* Nonsense 7/29 - 1
6-131941791-G-A c.574C>T p.P192S Missense 7/29 - 1
6-131941791-G-C c.574C>G p.P192A Missense 7/29 - 1
6-131941795-C-A c.570G>T p.L190= Synonymous 7/29 - 2
6-131941800-T-TA c.564_565insT p.K189* Nonsense 7/29 - 1
6-131941802-C-T c.563G>A p.R188K Missense 7/29 - 1
6-131941807-C-A c.558G>T p.E186D Missense 7/29 - 1
6-131941813-G-A c.552C>T p.V184= Synonymous 7/29 - 1
6-131941813-G-C c.552C>G p.V184= Synonymous 7/29 - 1
6-131941813-G-T c.552C>A p.V184= Synonymous 7/29 - 1
6-131941813-TG-T c.552del p.T185Lfs*20 Frameshift 7/29 - 1
6-131941818-C-T c.547G>A p.A183T Missense 7/29 - 1
6-131941819-A-G c.546T>C p.F182= Synonymous 7/29 - 1
6-131941826-G-T c.539C>A p.A180D Missense 7/29 - 2
6-131941827-C-G c.538G>C p.A180P Missense 7/29 - 1
6-131941829-G-A c.536C>T p.P179L Missense 7/29 - 2
6-131941836-A-T c.529T>A p.L177I Missense 7/29 - 1
6-131941853-AA-GG c.511_512delinsCC p.L171P Missense 7/29 - 1
6-131941857-T-G c.508A>C p.I170L Missense 7/29 - 1
6-131941859-T-C c.506A>G p.Y169C Missense 7/29 - 2
6-131941863-C-T c.502G>A p.A168T Missense 7/29 - 1
6-131941867-AAC-CAT c.496_498delinsATG p.V166M Missense 7/29 - 1
6-131942831-C-A c.495+190G>T - IntronicSNV - 6/28 1
6-131943023-C-T c.493G>A p.E165K Missense 6/29 - 1
6-131943027-T-A c.489A>T p.A163= Synonymous 6/29 - 1
6-131943027-T-C c.489A>G p.A163= Synonymous 6/29 - 1
6-131943027-T-G c.489A>C p.A163= Synonymous 6/29 - 1
6-131943035-G-A c.481C>T p.L161= Synonymous 6/29 - 3
6-131943037-A-G c.479T>C p.L160P Missense 6/29 - 1
6-131943037-A-T c.479T>A p.L160H Missense 6/29 - 1
6-131943038-G-C c.478C>G p.L160V Missense 6/29 - 1
6-131943041-G-C c.475C>G p.Q159E Missense 6/29 - 1
6-131943062-C-T c.454G>A p.V152M Missense 6/29 - 1
6-131943063-T-A c.453A>T p.T151= Synonymous 6/29 - 2
6-131943064-G-A c.452C>T p.T151I Missense 6/29 - 1
6-131943069-A-T c.447T>A p.P149= Synonymous 6/29 - 2
6-131943070-G-A c.446C>T p.P149L Missense 6/29 - 1
6-131943072-A-C c.444T>G p.I148M Missense 6/29 - 1
6-131943081-A-C c.435T>G p.I145M Missense 6/29 - 3
6-131943092-A-C c.424T>G p.L142V Missense 6/29 - 1
6-131943099-T-A c.417A>T p.K139N Missense 6/29 - 1
6-131943099-T-G c.417A>C p.K139N Missense 6/29 - 2
6-131943112-C-A c.404G>T p.R135L Missense 6/29 - 1
6-131943113-G-A c.403C>T p.R135* Nonsense 6/29 - 1
6-131943116-C-T c.400G>A p.V134I Missense 6/29 - 1
6-131943119-C-T c.397G>A p.G133S Missense 6/29 - 1
6-131943238-C-CAG c.397-121_397-120dup - IntronicInsertion - 5/28 1
6-131944288-T-C c.396+203A>G - IntronicSNV - 5/28 1
6-131944438-G-A c.396+53C>T - IntronicSNV - 5/28 1
6-131944489-A-C c.396+2T>G - IntronicSNV - 5/28 1
6-131944491-C-A c.396G>T p.K132N Missense 5/29 - 2
6-131944491-C-G c.396G>C p.K132N Missense 5/29 - 1
6-131944504-C-T c.383G>A p.G128E Missense 5/29 - 1
6-131944505-C-T c.382G>A p.G128R Missense 5/29 - 4
6-131944503-TC-T c.383del p.G128Efs*11 Frameshift 5/29 - 1
6-131944510-A-G c.377T>C p.I126T Missense 5/29 - 1
6-131944512-T-C c.375A>G p.I125M Missense 5/29 - 1
6-131944513-AT-A c.373del p.I125* Frameshift 5/29 - 1
6-131944517-TC-T c.369del p.I125* Frameshift 5/29 - 1
6-131944519-C-T c.368G>A p.R123Q Missense 5/29 - 3
6-131944520-G-A c.367C>T p.R123W Missense 5/29 - 8
6-131944527-T-A c.360A>T p.K120N Missense 5/29 - 1
6-131944534-G-A c.353C>T p.T118I Missense 5/29 - 2
6-131944534-G-T c.353C>A p.T118K Missense 5/29 - 1
6-131944539-G-A c.348C>T p.A116= Synonymous 5/29 - 1
6-131944540-G-A c.347C>T p.A116V Missense 5/29 - 2
6-131944545-A-G c.342T>C p.L114= Synonymous 5/29 - 1
6-131944550-G-A c.337C>T p.Q113* Nonsense 5/29 - 1
6-131944551-TG-GT c.335_336delinsAC p.T112N Missense 5/29 - 1
6-131944552-G-C c.335C>G p.T112R Missense 5/29 - 1
6-131944559-C-T c.328G>A p.E110K Missense 5/29 - 1
6-131944561-C-A c.326G>T p.W109L Missense 5/29 - 1
6-131944568-G-C c.319C>G p.L107V Missense 5/29 - 2
6-131944571-T-A c.316A>T p.T106S Missense 5/29 - 1
6-131944574-C-A c.313G>T p.D105Y Missense 5/29 - 4
6-131944576-G-A c.311C>T p.S104F Missense 5/29 - 1
6-131944576-GA-TT c.310_311delinsAA p.S104N Missense 5/29 - 1
6-131944576-G-C c.311C>G p.S104C Missense 5/29 - 1
6-131944577-A-G c.310T>C p.S104P Missense 5/29 - 1
6-131944583-T-C c.304A>G p.I102V Missense 5/29 - 1
6-131944585-A-T c.302T>A p.L101Q Missense 5/29 - 1
6-131944586-G-A c.301C>T p.L101= Synonymous 5/29 - 1
6-131944587-G-A c.300C>T p.S100= Synonymous 5/29 - 1
6-131944588-G-A c.299C>T p.S100F Missense 5/29 - 3
6-131944592-C-T c.295G>A p.E99K Missense 5/29 - 1
6-131944594-C-A c.293G>T p.C98F Missense 5/29 - 1
6-131944597-A-C c.290T>G p.V97G Missense 5/29 - 4
6-131944598-C-T c.289G>A p.V97I Missense 5/29 - 1
6-131944601-G-A c.286C>T p.L96= Synonymous 5/29 - 1
6-131944602-C-A c.285G>T p.R95S Missense 5/29 - 1
6-131944602-C-T c.285G>A p.R95= Synonymous 5/29 - 1
6-131946006-T-G c.283A>C p.R95= Synonymous 4/29 - 1
6-131945919-A-G c.284+86T>C - IntronicSNV - 4/28 1
6-131946004-C-A c.284+1G>T - IntronicSNV - 4/28 1
6-131946006-T-C c.283A>G p.R95G Missense 4/29 - 1
6-131946011-G-T c.278C>A p.P93Q Missense 4/29 - 1
6-131946012-G-T c.277C>A p.P93T Missense 4/29 - 1
6-131946014-A-G c.275T>C p.L92P Missense 4/29 - 1
6-131946016-G-A c.273C>T p.L91= Synonymous 4/29 - 1
6-131946025-C-A c.264G>T p.E88D Missense 4/29 - 1
6-131946025-C-T c.264G>A p.E88= Synonymous 4/29 - 1
6-131946026-T-A c.263A>T p.E88V Missense 4/29 - 1
6-131946032-G-A c.257C>T p.A86V Missense 4/29 - 1
6-131946036-T-A c.253A>T p.M85L Missense 4/29 - 1
6-131946036-T-G c.253A>C p.M85L Missense 4/29 - 1
6-131946041-A-T c.248T>A p.L83* Nonsense 4/29 - 1
6-131946054-G-A c.235C>T p.L79F Missense 4/29 - 3
6-131946050-TAAAGA-T c.234_238del p.F78Lfs*2 Frameshift 4/29 - 1
6-131946059-G-T c.230C>A p.S77Y Missense 4/29 - 3
6-131946065-C-A c.224G>T p.R75I Missense 4/29 - 7
6-131946065-C-T c.224G>A p.R75K Missense 4/29 - 2
6-131946067-T-A c.222A>T p.K74N Missense 4/29 - 1
6-131946067-T-G c.222A>C p.K74N Missense 4/29 - 1
6-131946074-C-T c.215G>A p.S72N Missense 4/29 - 1
6-131946079-C-G c.210G>C p.Q70H Missense 4/29 - 1
6-131946082-AC-CT c.206_207delinsAG p.G69E Missense 4/29 - 1
6-131946083-C-T c.206G>A p.G69D Missense 4/29 - 1
6-131946087-G-A c.202C>T p.H68Y Missense 4/29 - 2
6-131946089-A-C c.200T>G p.I67S Missense 4/29 - 2
6-131946091-A-G c.198T>C p.F66= Synonymous 4/29 - 1
6-131946097-A-C c.192T>G p.V64= Synonymous 4/29 - 1
6-131946097-A-G c.192T>C p.V64= Synonymous 4/29 - 1
6-131946097-A-T c.192T>A p.V64= Synonymous 4/29 - 1
6-131946098-A-G c.191T>C p.V64A Missense 4/29 - 1
6-131946100-A-C c.189T>G p.I63M Missense 4/29 - 1
6-131946104-C-A c.185G>T p.W62L Missense 4/29 - 1
6-131946105-A-G c.184T>C p.W62R Missense 4/29 - 1
6-131946105-A-T c.184T>A p.W62R Missense 4/29 - 1
6-131946108-G-C c.181C>G p.Q61E Missense 4/29 - 1
6-131946111-T-C c.178A>G p.I60V Missense 4/29 - 1
6-131946112-A-G c.177T>C p.C59= Synonymous 4/29 - 1
6-131946113-C-T c.176G>A p.C59Y Missense 4/29 - 1
6-131946119-T-C c.170A>G p.E57G Missense 4/29 - 1
6-131946120-C-A c.169G>T p.E57* Nonsense 4/29 - 1
6-131946123-G-A c.166C>T p.H56Y Missense 4/29 - 1
6-131946124-A-G c.165T>C p.S55= Synonymous 4/29 - 1
6-131946127-C-T c.162G>A p.E54= Synonymous 4/29 - 2
6-131948296-G-GT c.159+239dup - IntronicInsertion - 3/28 1
6-131948469-GA-G c.159+66del - IntronicDeletion - 3/28 3
6-131948469-G-GA c.159+66dup - IntronicInsertion - 3/28 1
6-131948485-AAG-A c.159+49_159+50del - IntronicDeletion - 3/28 1
6-131948487-AG-A c.159+49del - IntronicDeletion - 3/28 1
6-131948536-C-T c.159G>A p.Q53= Synonymous 3/29 - 1
6-131948537-T-C c.158A>G p.Q53R Missense 3/29 - 1
6-131948537-T-G c.158A>C p.Q53P Missense 3/29 - 1
6-131948538-G-A c.157C>T p.Q53* Nonsense 3/29 - 2
6-131948540-GA-G c.154del p.S52Lfs*32 Frameshift 3/29 - 1
6-131948544-G-A c.151C>T p.L51F Missense 3/29 - 1
6-131948544-G-C c.151C>G p.L51V Missense 3/29 - 1
6-131948547-C-A c.148G>T p.G50C Missense 3/29 - 1
6-131948547-C-T c.148G>A p.G50S Missense 3/29 - 4
6-131948549-C-A c.146G>T p.G49V Missense 3/29 - 1
6-131948550-C-A c.145G>T p.G49C Missense 3/29 - 1
6-131948559-G-A c.136C>T p.Q46* Nonsense 3/29 - 1
6-131948562-T-C c.133A>G p.R45G Missense 3/29 - 1
6-131948567-GC-CA c.127_128delinsTG p.A43C Missense 3/29 - 1
6-131948570-C-T c.125G>A p.G42E Missense 3/29 - 1
6-131948571-C-A c.124G>T p.G42W Missense 3/29 - 1
6-131948573-A-G c.122T>C p.L41S Missense 3/29 - 1
6-131948576-C-A c.119G>T p.C40F Missense 3/29 - 1
6-131948576-C-T c.119G>A p.C40Y Missense 3/29 - 1
6-131948576-C-G c.119G>C p.C40S Missense 3/29 - 1
6-131948577-A-G c.118T>C p.C40R Missense 3/29 - 1
6-131948578-G-C c.117C>G p.S39R Missense 3/29 - 1
6-131948578-G-T c.117C>A p.S39R Missense 3/29 - 1
6-131948580-T-G c.115A>C p.S39R Missense 3/29 - 1
6-131948579-CT-AG c.115_116inv p.S39L Missense 3/29 - 1
6-131948584-T-A c.111A>T p.L37= Synonymous 3/29 - 2
6-131948584-T-C c.111A>G p.L37= Synonymous 3/29 - 3
6-131948584-T-G c.111A>C p.L37= Synonymous 3/29 - 3
6-131948586-G-A c.109C>T p.L37= Synonymous 3/29 - 2
6-131948595-T-G c.100A>C p.K34Q Missense 3/29 - 1
6-131948608-A-G c.87T>C p.T29= Synonymous 3/29 - 1
6-131948608-AG-CA c.86_87delinsTG p.T29M Missense 3/29 - 1
6-131948609-G-A c.86C>T p.T29I Missense 3/29 - 1
6-131948609-G-T c.86C>A p.T29N Missense 3/29 - 2
6-131948610-T-C c.85A>G p.T29A Missense 3/29 - 1
6-131948619-A-G c.76T>C p.F26L Missense 3/29 - 1
6-131948622-T-C c.73A>G p.M25V Missense 3/29 - 1
6-131948781-C-T c.71G>A p.G24D Missense 2/29 - 2
6-131948784-G-T c.68C>A p.P23H Missense 2/29 - 1
6-131948789-A-C c.63T>G p.A21= Synonymous 2/29 - 3
6-131948789-A-G c.63T>C p.A21= Synonymous 2/29 - 3
6-131948789-A-T c.63T>A p.A21= Synonymous 2/29 - 3
6-131948790-GC-CA c.61_62delinsTG p.A21C Missense 2/29 - 1
6-131948795-TTC-AAA c.55_57delinsTTT p.E19F Missense 2/29 - 1
6-131948799-A-G c.53T>C p.I18T Missense 2/29 - 1
6-131948799-A-T c.53T>A p.I18K Missense 2/29 - 1
6-131948799-AT-TA c.52_53delinsTA p.I18* Nonsense 2/29 - 1
6-131948806-C-A c.46G>T p.E16* Nonsense 2/29 - 5
6-131948806-C-T c.46G>A p.E16K Missense 2/29 - 1
6-131948808-G-A c.44C>T p.T15M Missense 2/29 - 1
6-131948808-G-T c.44C>A p.T15K Missense 2/29 - 1
6-131948815-G-A c.40-3C>T - IntronicSNV - 1/28 1
6-131948815-G-T c.40-3C>A - IntronicSNV - 1/28 1
6-131948831-C-A c.40-19G>T - IntronicSNV - 1/28 2
6-131948842-C-A c.40-30G>T - IntronicSNV - 1/28 1
6-131949005-T-C c.39+146A>G - IntronicSNV - 1/28 1
6-131949150-C-A c.39+1G>T - IntronicSNV - 1/28 1
6-131949152-A-G c.38T>C p.V13A Missense 1/29 - 1
6-131949153-C-A c.37G>T p.V13L Missense 1/29 - 2
6-131949153-C-G c.37G>C p.V13L Missense 1/29 - 1
6-131949158-CT-C c.32del p.E11Gfs*3 Frameshift 1/29 - 1
6-131949158-T-G c.32A>C p.E11A Missense 1/29 - 1
6-131949159-C-A c.31G>T p.E11* Nonsense 1/29 - 1
6-131949168-T-C c.22A>G p.I8V Missense 1/29 - 1
6-131949169-G-A c.21C>T p.S7= Synonymous 1/29 - 1
6-131949170-CT-AA c.19_20delinsTT p.S7F Missense 1/29 - 1
6-131949182-G-T c.8C>A p.T3K Missense 1/29 - 1
6-131949282-T-C c.-93A>G - 5-UTRSNV 1/29 - 1
6-131949288-A-AGGTCTCC c.-100_-99insGGAGACC - 5-UTRInsertion 1/29 - 1
6-131949292-C-T c.-103G>A - 5-UTRSNV 1/29 - 1
6-131949293-G-T c.-104C>A - 5-UTRSNV 1/29 - 1
6-131949295-A-AATAT c.-107_-106insATAT - 5-UTRInsertion 1/29 - 1