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 |