Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
3-10365803-G-C | c.*4695C>G | - | 3-UTRSNV | 23/23 | - | 1 |
3-10366303-T-C | c.*4195A>G | - | 3-UTRSNV | 23/23 | - | 1 |
3-10366801-C-T | c.*3697G>A | - | 3-UTRSNV | 23/23 | - | 3 |
3-10367604-G-A | c.*2894C>T | - | 3-UTRSNV | 23/23 | - | 3 |
3-10367604-G-C | c.*2894C>G | - | 3-UTRSNV | 23/23 | - | 3 |
3-10367782-C-CA | c.*2715dup | - | 3-UTRInsertion | 23/23 | - | 2 |
3-10367891-G-A | c.*2607C>T | - | 3-UTRSNV | 23/23 | - | 1 |
3-10367975-G-C | c.*2523C>G | - | 3-UTRSNV | 23/23 | - | 1 |
3-10368102-G-A | c.*2396C>T | - | 3-UTRSNV | 23/23 | - | 3 |
3-10368113-G-C | c.*2385C>G | - | 3-UTRSNV | 23/23 | - | 4 |
3-10368577-C-A | c.*1921G>T | - | 3-UTRSNV | 23/23 | - | 1 |
3-10368948-G-A | c.*1550C>T | - | 3-UTRSNV | 23/23 | - | 5 |
3-10369180-A-G | c.*1318T>C | - | 3-UTRSNV | 23/23 | - | 6 |
3-10369521-G-A | c.*977C>T | - | 3-UTRSNV | 23/23 | - | 1 |
3-10369521-G-T | c.*977C>A | - | 3-UTRSNV | 23/23 | - | 1 |
3-10370440-G-A | c.*58C>T | - | 3-UTRSNV | 23/23 | - | 1 |
3-10370486-G-C | c.*12C>G | - | 3-UTRSNV | 23/23 | - | 14 |
3-10370505-G-A | c.3725C>T | p.S1242L | Missense | 23/23 | - | 2 |
3-10370507-C-T | c.3723G>A | p.T1241= | Synonymous | 23/23 | - | 1 |
3-10370508-G-A | c.3722C>T | p.T1241M | Missense | 23/23 | - | 1 |
3-10370514-A-G | c.3716T>C | p.L1239P | Missense | 23/23 | - | 1 |
3-10370522-G-A | c.3708C>T | p.I1236= | Synonymous | 23/23 | - | 1 |
3-10370522-G-T | c.3708C>A | p.I1236= | Synonymous | 23/23 | - | 1 |
3-10370529-C-A | c.3701G>T | p.S1234I | Missense | 23/23 | - | 3 |
3-10370532-C-T | c.3698G>A | p.G1233E | Missense | 23/23 | - | 3 |
3-10370533-C-T | c.3697G>A | p.G1233R | Missense | 23/23 | - | 1 |
3-10370544-G-A | c.3686C>T | p.S1229F | Missense | 23/23 | - | 1 |
3-10370554-A-C | c.3676T>G | p.S1226A | Missense | 23/23 | - | 1 |
3-10370559-C-T | c.3671G>A | p.S1224N | Missense | 23/23 | - | 1 |
3-10370564-G-T | c.3666C>A | p.D1222E | Missense | 23/23 | - | 1 |
3-10370566-C-T | c.3664G>A | p.D1222N | Missense | 23/23 | - | 2 |
3-10370567-G-A | c.3663C>T | p.T1221= | Synonymous | 23/23 | - | 2 |
3-10370567-G-C | c.3663C>G | p.T1221= | Synonymous | 23/23 | - | 1 |
3-10370567-G-T | c.3663C>A | p.T1221= | Synonymous | 23/23 | - | 1 |
3-10370570-C-T | c.3660G>A | p.T1220= | Synonymous | 23/23 | - | 2 |
3-10370571-G-A | c.3659C>T | p.T1220M | Missense | 23/23 | - | 7 |
3-10370576-G-A | c.3654C>T | p.N1218= | Synonymous | 23/23 | - | 1 |
3-10370589-T-A | c.3641A>T | p.D1214V | Missense | 23/23 | - | 1 |
3-10370590-C-T | c.3640G>A | p.D1214N | Missense | 23/23 | - | 5 |
3-10370591-G-A | c.3639C>T | p.I1213= | Synonymous | 23/23 | - | 2 |
3-10370591-G-T | c.3639C>A | p.I1213= | Synonymous | 23/23 | - | 2 |
3-10370595-G-A | c.3635C>T | p.A1212V | Missense | 23/23 | - | 1 |
3-10370596-C-T | c.3634G>A | p.A1212T | Missense | 23/23 | - | 3 |
3-10370597-G-A | c.3633C>T | p.S1211= | Synonymous | 23/23 | - | 2 |
3-10370598-C-A | c.3632G>T | p.S1211I | Missense | 23/23 | - | 3 |
3-10370598-CT-AG | c.3631_3632inv | p.S1211L | Missense | 23/23 | - | 1 |
3-10370599-T-A | c.3631A>T | p.S1211C | Missense | 23/23 | - | 1 |
3-10370603-G-A | c.3627C>T | p.N1209= | Synonymous | 23/23 | - | 1 |
3-10370611-T-C | c.3619A>G | p.N1207D | Missense | 23/23 | - | 1 |
3-10370615-G-A | c.3615C>T | p.S1205= | Synonymous | 23/23 | - | 2 |
3-10370615-G-C | c.3615C>G | p.S1205= | Synonymous | 23/23 | - | 1 |
3-10370618-T-A | c.3612A>T | p.S1204= | Synonymous | 23/23 | - | 2 |
3-10370618-T-C | c.3612A>G | p.S1204= | Synonymous | 23/23 | - | 1 |
3-10370618-T-G | c.3612A>C | p.S1204= | Synonymous | 23/23 | - | 2 |
3-10370621-C-T | c.3609G>A | p.P1203= | Synonymous | 23/23 | - | 1 |
3-10370622-G-A | c.3608C>T | p.P1203L | Missense | 23/23 | - | 2 |
3-10370623-G-A | c.3607C>T | p.P1203S | Missense | 23/23 | - | 3 |
3-10370624-C-A | c.3606G>T | p.P1202= | Synonymous | 23/23 | - | 1 |
3-10370624-C-G | c.3606G>C | p.P1202= | Synonymous | 23/23 | - | 1 |
3-10370624-C-T | c.3606G>A | p.P1202= | Synonymous | 23/23 | - | 2 |
3-10370625-G-A | c.3605C>T | p.P1202L | Missense | 23/23 | - | 2 |
3-10370626-G-C | c.3604C>G | p.P1202A | Missense | 23/23 | - | 1 |
3-10370626-G-T | c.3604C>A | p.P1202T | Missense | 23/23 | - | 1 |
3-10370627-G-A | c.3603C>T | p.S1201= | Synonymous | 23/23 | - | 1 |
3-10370627-G-T | c.3603C>A | p.S1201R | Missense | 23/23 | - | 1 |
3-10370631-G-A | c.3599C>T | p.S1200L | Missense | 23/23 | - | 4 |
3-10370631-G-C | c.3599C>G | p.S1200W | Missense | 23/23 | - | 1 |
3-10370634-T-C | c.3596A>G | p.N1199S | Missense | 23/23 | - | 1 |
3-10370645-C-A | c.3585G>T | p.A1195= | Synonymous | 23/23 | - | 2 |
3-10370645-C-G | c.3585G>C | p.A1195= | Synonymous | 23/23 | - | 1 |
3-10370645-C-T | c.3585G>A | p.A1195= | Synonymous | 23/23 | - | 2 |
3-10370646-G-A | c.3584C>T | p.A1195V | Missense | 23/23 | - | 4 |
3-10370647-C-T | c.3583G>A | p.A1195T | Missense | 23/23 | - | 2 |
3-10370648-G-A | c.3582C>T | p.A1194= | Synonymous | 23/23 | - | 2 |
3-10370648-G-C | c.3582C>G | p.A1194= | Synonymous | 23/23 | - | 1 |
3-10370648-G-T | c.3582C>A | p.A1194= | Synonymous | 23/23 | - | 1 |
3-10370649-G-A | c.3581C>T | p.A1194V | Missense | 23/23 | - | 3 |
3-10370652-T-A | c.3578A>T | p.D1193V | Missense | 23/23 | - | 2 |
3-10370653-C-G | c.3577G>C | p.D1193H | Missense | 23/23 | - | 1 |
3-10370653-C-T | c.3577G>A | p.D1193N | Missense | 23/23 | - | 1 |
3-10370665-C-A | c.3565G>T | p.D1189Y | Missense | 23/23 | - | 1 |
3-10370665-C-T | c.3565G>A | p.D1189N | Missense | 23/23 | - | 2 |
3-10370667-G-C | c.3563C>G | p.T1188S | Missense | 23/23 | - | 1 |
3-10370668-T-A | c.3562A>T | p.T1188S | Missense | 23/23 | - | 1 |
3-10370673-T-C | c.3557A>G | p.D1186G | Missense | 23/23 | - | 4 |
3-10370675-A-G | c.3555T>C | p.I1185= | Synonymous | 23/23 | - | 1 |
3-10370676-A-G | c.3554T>C | p.I1185T | Missense | 23/23 | - | 2 |
3-10370701-C-T | c.3529G>A | p.D1177N | Missense | 23/23 | - | 1 |
3-10370704-C-A | c.3526G>T | p.E1176* | Nonsense | 23/23 | - | 3 |
3-10370704-C-T | c.3526G>A | p.E1176K | Missense | 23/23 | - | 3 |
3-10370705-G-A | c.3525C>T | p.I1175= | Synonymous | 23/23 | - | 1 |
3-10370705-G-C | c.3525C>G | p.I1175M | Missense | 23/23 | - | 1 |
3-10370708-C-T | c.3522G>A | p.R1174= | Synonymous | 23/23 | - | 2 |
3-10370709-C-T | c.3521G>A | p.R1174Q | Missense | 23/23 | - | 3 |
3-10370714-T-A | c.3516A>T | p.E1172D | Missense | 23/23 | - | 1 |
3-10370721-T-C | c.3509A>G | p.H1170R | Missense | 23/23 | - | 1 |
3-10370722-G-A | c.3508C>T | p.H1170Y | Missense | 23/23 | - | 1 |
3-10370722-G-T | c.3508C>A | p.H1170N | Missense | 23/23 | - | 2 |
3-10370725-C-T | c.3505G>A | p.A1169T | Missense | 23/23 | - | 3 |
3-10370728-T-C | c.3502A>G | p.M1168V | Missense | 23/23 | - | 1 |
3-10370732-G-A | c.3498C>T | p.N1166= | Synonymous | 23/23 | - | 1 |
3-10370737-G-T | c.3493C>A | p.H1165N | Missense | 23/23 | - | 1 |
3-10370738-G-A | c.3492C>T | p.I1164= | Synonymous | 23/23 | - | 1 |
3-10370742-G-A | c.3488C>T | p.S1163F | Missense | 23/23 | - | 1 |
3-10370748-C-A | c.3482G>T | p.R1161L | Missense | 23/23 | - | 1 |
3-10370748-C-T | c.3482G>A | p.R1161Q | Missense | 23/23 | - | 2 |
3-10370752-A-T | c.3478T>A | p.S1160T | Missense | 23/23 | - | 1 |
3-10370753-T-A | c.3477A>T | p.E1159D | Missense | 23/23 | - | 2 |
3-10370755-C-T | c.3475G>A | p.E1159K | Missense | 23/23 | - | 1 |
3-10370757-G-A | c.3473C>T | p.P1158L | Missense | 23/23 | - | 2 |
3-10370759-C-T | c.3471G>A | p.K1157= | Synonymous | 23/23 | - | 1 |
3-10370769-C-T | c.3461G>A | p.G1154D | Missense | 23/23 | - | 1 |
3-10370779-G-T | c.3451C>A | p.L1151I | Missense | 23/23 | - | 1 |
3-10370781-G-A | c.3449C>T | p.S1150F | Missense | 23/23 | - | 1 |
3-10370783-G-A | c.3447C>T | p.S1149= | Synonymous | 23/23 | - | 1 |
3-10370787-C-T | c.3443G>A | p.R1148H | Missense | 23/23 | - | 1 |
3-10370788-G-A | c.3442C>T | p.R1148C | Missense | 23/23 | - | 2 |
3-10370789-G-T | c.3441C>A | p.F1147L | Missense | 23/23 | - | 1 |
3-10370792-C-T | c.3438G>A | p.A1146= | Synonymous | 23/23 | - | 1 |
3-10370793-G-A | c.3437C>T | p.A1146V | Missense | 23/23 | - | 2 |
3-10370794-C-T | c.3436G>A | p.A1146T | Missense | 23/23 | - | 1 |
3-10370796-T-G | c.3434A>C | p.K1145T | Missense | 23/23 | - | 1 |
3-10370798-CAC-GAT | c.3430_3432delinsATC | p.V1144I | Missense | 23/23 | - | 1 |
3-10370800-C-T | c.3430G>A | p.V1144M | Missense | 23/23 | - | 3 |
3-10370801-G-A | c.3429C>T | p.V1143= | Synonymous | 23/23 | - | 2 |
3-10370803-C-A | c.3427G>T | p.V1143F | Missense | 23/23 | - | 5 |
3-10370803-C-T | c.3427G>A | p.V1143I | Missense | 23/23 | - | 4 |
3-10370804-G-A | c.3426C>T | p.R1142= | Synonymous | 23/23 | - | 2 |
3-10370804-G-C | c.3426C>G | p.R1142= | Synonymous | 23/23 | - | 1 |
3-10370804-G-T | c.3426C>A | p.R1142= | Synonymous | 23/23 | - | 1 |
3-10370805-C-T | c.3425G>A | p.R1142H | Missense | 23/23 | - | 2 |
3-10370806-G-A | c.3424C>T | p.R1142C | Missense | 23/23 | - | 4 |
3-10372840-T-C | c.3421-2031A>G | - | IntronicSNV | - | 22/22 | 2 |
3-10374719-T-C | c.3421-3910A>G | - | IntronicSNV | - | 22/22 | 1 |
3-10377650-C-T | c.3420+2210G>A | - | IntronicSNV | - | 22/22 | 2 |
3-10377860-G-T | c.3420+2000C>A | - | IntronicSNV | - | 22/22 | 1 |
3-10377865-C-T | c.3420+1995G>A | - | IntronicSNV | - | 22/22 | 1 |
3-10377871-G-A | c.3420+1989C>T | - | IntronicSNV | - | 22/22 | 1 |
3-10377898-A-G | c.3420+1962T>C | - | IntronicSNV | - | 22/22 | 1 |
3-10377914-G-T | c.3420+1946C>A | - | IntronicSNV | - | 22/22 | 1 |
3-10377918-C-G | c.3420+1942G>C | - | IntronicSNV | - | 22/22 | 1 |
3-10377918-C-T | c.3420+1942G>A | - | IntronicSNV | - | 22/22 | 1 |
3-10377932-C-T | c.3420+1928G>A | - | IntronicSNV | - | 22/22 | 1 |
3-10379194-G-T | c.3420+666C>A | - | IntronicSNV | - | 22/22 | 1 |
3-10379195-T-C | c.3420+665A>G | - | IntronicSNV | - | 22/22 | 1 |
3-10379196-C-G | c.3420+664G>C | - | IntronicSNV | - | 22/22 | 1 |
3-10379603-T-C | c.3420+257A>G | - | IntronicSNV | - | 22/22 | 1 |
3-10379865-T-C | c.3415A>G | p.T1139A | Missense | 22/23 | - | 1 |
3-10379868-G-T | c.3412C>A | p.Q1138K | Missense | 22/23 | - | 1 |
3-10379872-CC-AT | c.3407_3408delinsAT | p.R1136H | Missense | 22/23 | - | 1 |
3-10379873-C-T | c.3407G>A | p.R1136Q | Missense | 22/23 | - | 2 |
3-10379875-A-G | c.3405T>C | p.N1135= | Synonymous | 22/23 | - | 1 |
3-10379876-T-C | c.3404A>G | p.N1135S | Missense | 22/23 | - | 1 |
3-10379878-C-T | c.3402G>A | p.L1134= | Synonymous | 22/23 | - | 2 |
3-10379882-C-T | c.3398G>A | p.G1133D | Missense | 22/23 | - | 1 |
3-10379886-G-A | c.3394C>T | p.R1132* | Nonsense | 22/23 | - | 1 |
3-10379887-G-C | c.3393C>G | p.F1131L | Missense | 22/23 | - | 1 |
3-10379889-A-G | c.3391T>C | p.F1131L | Missense | 22/23 | - | 1 |
3-10379896-G-A | c.3384C>T | p.I1128= | Synonymous | 22/23 | - | 2 |
3-10379899-C-T | c.3381G>A | p.Q1127= | Synonymous | 22/23 | - | 1 |
3-10379900-T-A | c.3380A>T | p.Q1127L | Missense | 22/23 | - | 1 |
3-10379900-T-C | c.3380A>G | p.Q1127R | Missense | 22/23 | - | 1 |
3-10379903-C-A | c.3377G>T | p.G1126V | Missense | 22/23 | - | 1 |
3-10379904-C-T | c.3376G>A | p.G1126S | Missense | 22/23 | - | 1 |
3-10379902-GC-G | c.3377del | p.G1126Afs*9 | Frameshift | 22/23 | - | 3 |
3-10379906-C-T | c.3374G>A | p.R1125Q | Missense | 22/23 | - | 6 |
3-10379907-G-A | c.3373C>T | p.R1125W | Missense | 22/23 | - | 1 |
3-10379917-CC-AT | c.3362_3363delinsAT | p.R1121H | Missense | 22/23 | - | 1 |
3-10379918-C-T | c.3362G>A | p.R1121Q | Missense | 22/23 | - | 2 |
3-10379919-G-A | c.3361C>T | p.R1121W | Missense | 22/23 | - | 1 |
3-10379921-T-A | c.3359A>T | p.E1120V | Missense | 22/23 | - | 1 |
3-10379923-C-A | c.3357G>T | p.A1119= | Synonymous | 22/23 | - | 2 |
3-10379923-C-G | c.3357G>C | p.A1119= | Synonymous | 22/23 | - | 9 |
3-10379923-C-T | c.3357G>A | p.A1119= | Synonymous | 22/23 | - | 27 |
3-10379924-G-A | c.3356C>T | p.A1119V | Missense | 22/23 | - | 1 |
3-10379925-C-T | c.3355G>A | p.A1119T | Missense | 22/23 | - | 1 |
3-10379927-T-A | c.3353A>T | p.H1118L | Missense | 22/23 | - | 1 |
3-10379929-G-A | c.3351C>T | p.D1117= | Synonymous | 22/23 | - | 1 |
3-10379931-C-T | c.3349G>A | p.D1117N | Missense | 22/23 | - | 2 |
3-10379932-G-A | c.3348C>T | p.I1116= | Synonymous | 22/23 | - | 1 |
3-10379938-C-T | c.3342G>A | p.E1114= | Synonymous | 22/23 | - | 2 |
3-10379940-CCA-C | c.3338_3339del | p.V1113Gfs*36 | Frameshift | 22/23 | - | 1 |
3-10379942-A-C | c.3338T>G | p.V1113G | Missense | 22/23 | - | 4 |
3-10379943-C-G | c.3337G>C | p.V1113L | Missense | 22/23 | - | 1 |
3-10379943-C-T | c.3337G>A | p.V1113M | Missense | 22/23 | - | 2 |
3-10379944-G-A | c.3336C>T | p.D1112= | Synonymous | 22/23 | - | 2 |
3-10379944-G-C | c.3336C>G | p.D1112E | Missense | 22/23 | - | 1 |
3-10379949-C-T | c.3331G>A | p.E1111K | Missense | 22/23 | - | 2 |
3-10379951-T-C | c.3329A>G | p.N1110S | Missense | 22/23 | - | 1 |
3-10379958-C-T | c.3322G>A | p.E1108K | Missense | 22/23 | - | 2 |
3-10379959-C-T | c.3321G>A | p.E1107= | Synonymous | 22/23 | - | 2 |
3-10379965-C-A | c.3315G>T | p.P1105= | Synonymous | 22/23 | - | 2 |
3-10379965-C-G | c.3315G>C | p.P1105= | Synonymous | 22/23 | - | 2 |
3-10379965-C-T | c.3315G>A | p.P1105= | Synonymous | 22/23 | - | 2 |
3-10379966-G-A | c.3314C>T | p.P1105L | Missense | 22/23 | - | 3 |
3-10379966-G-C | c.3314C>G | p.P1105R | Missense | 22/23 | - | 1 |
3-10379967-G-A | c.3313C>T | p.P1105S | Missense | 22/23 | - | 1 |
3-10379967-G-T | c.3313C>A | p.P1105T | Missense | 22/23 | - | 1 |
3-10379968-G-C | c.3312C>G | p.I1104M | Missense | 22/23 | - | 1 |
3-10379971-C-T | c.3309G>A | p.E1103= | Synonymous | 22/23 | - | 1 |
3-10379973-C-T | c.3307G>A | p.E1103K | Missense | 22/23 | - | 1 |
3-10379976-C-T | c.3304G>A | p.E1102K | Missense | 22/23 | - | 2 |
3-10379983-T-A | c.3297A>T | p.T1099= | Synonymous | 22/23 | - | 1 |
3-10379983-T-C | c.3297A>G | p.T1099= | Synonymous | 22/23 | - | 1 |
3-10379983-T-G | c.3297A>C | p.T1099= | Synonymous | 22/23 | - | 1 |
3-10379985-T-C | c.3295A>G | p.T1099A | Missense | 22/23 | - | 1 |
3-10379985-T-G | c.3295A>C | p.T1099P | Missense | 22/23 | - | 1 |
3-10379989-CCT-ATG | c.3289_3291delinsCAT | p.R1097H | Missense | 22/23 | - | 1 |
3-10379997-C-T | c.3283G>A | p.A1095T | Missense | 22/23 | - | 1 |
3-10380005-GA-G | c.3275del | p.L1092Pfs*43 | Frameshift | 22/23 | - | 3 |
3-10380006-G-A | c.3274C>T | p.L1092F | Missense | 22/23 | - | 3 |
3-10380010-C-T | c.3270G>A | p.K1090= | Synonymous | 22/23 | - | 1 |
3-10380017-C-G | c.3263G>C | p.R1088T | Missense | 22/23 | - | 1 |
3-10380019-G-A | c.3261C>T | p.S1087= | Synonymous | 22/23 | - | 1 |
3-10380025-C-T | c.3255G>A | p.P1085= | Synonymous | 22/23 | - | 1 |
3-10380026-G-A | c.3254C>T | p.P1085L | Missense | 22/23 | - | 1 |
3-10380029-A-G | c.3251T>C | p.I1084T | Missense | 22/23 | - | 2 |
3-10380032-G-C | c.3248C>G | p.T1083S | Missense | 22/23 | - | 1 |
3-10380033-T-C | c.3247A>G | p.T1083A | Missense | 22/23 | - | 1 |
3-10380035-G-A | c.3245C>T | p.A1082V | Missense | 22/23 | - | 1 |
3-10380036-C-T | c.3244G>A | p.A1082T | Missense | 22/23 | - | 1 |
3-10380037-G-A | c.3243C>T | p.I1081= | Synonymous | 22/23 | - | 1 |
3-10380209-T-A | c.3238-167A>T | - | IntronicSNV | - | 21/22 | 3 |
3-10380209-T-C | c.3238-167A>G | - | IntronicSNV | - | 21/22 | 3 |
3-10381784-A-G | c.3237+142T>C | - | IntronicSNV | - | 21/22 | 3 |
3-10381930-C-A | c.3233G>T | p.G1078V | Missense | 21/23 | - | 2 |
3-10381929-GC-G | c.3233del | p.G1078Afs*57 | Frameshift | 21/23 | - | 1 |
3-10381937-C-G | c.3226G>C | p.V1076L | Missense | 21/23 | - | 1 |
3-10381937-C-T | c.3226G>A | p.V1076I | Missense | 21/23 | - | 1 |
3-10381941-C-T | c.3222G>A | p.E1074= | Synonymous | 21/23 | - | 3 |
3-10381943-C-A | c.3220G>T | p.E1074* | Nonsense | 21/23 | - | 1 |
3-10381950-C-A | c.3213G>T | p.G1071= | Synonymous | 21/23 | - | 1 |
3-10381950-C-G | c.3213G>C | p.G1071= | Synonymous | 21/23 | - | 1 |
3-10381950-C-T | c.3213G>A | p.G1071= | Synonymous | 21/23 | - | 1 |
3-10381954-A-G | c.3209T>C | p.I1070T | Missense | 21/23 | - | 1 |
3-10381955-T-C | c.3208A>G | p.I1070V | Missense | 21/23 | - | 1 |
3-10381956-G-A | c.3207C>T | p.F1069= | Synonymous | 21/23 | - | 1 |
3-10381960-A-G | c.3203T>C | p.I1068T | Missense | 21/23 | - | 1 |
3-10381961-T-G | c.3202A>C | p.I1068L | Missense | 21/23 | - | 1 |
3-10381962-G-A | c.3201C>T | p.C1067= | Synonymous | 21/23 | - | 1 |
3-10381962-G-C | c.3201C>G | p.C1067W | Missense | 21/23 | - | 1 |
3-10381964-A-T | c.3199T>A | p.C1067S | Missense | 21/23 | - | 1 |
3-10381965-C-T | c.3198G>A | p.W1066* | Nonsense | 21/23 | - | 1 |
3-10381969-A-C | c.3194T>G | p.M1065R | Missense | 21/23 | - | 1 |
3-10381971-C-T | c.3192G>A | p.W1064* | Nonsense | 21/23 | - | 2 |
3-10381972-C-T | c.3191G>A | p.W1064* | Nonsense | 21/23 | - | 4 |
3-10381973-A-G | c.3190T>C | p.W1064R | Missense | 21/23 | - | 2 |
3-10381973-A-T | c.3190T>A | p.W1064R | Missense | 21/23 | - | 3 |
3-10381974-C-A | c.3189G>T | p.Q1063H | Missense | 21/23 | - | 2 |
3-10381974-C-G | c.3189G>C | p.Q1063H | Missense | 21/23 | - | 1 |
3-10381980-CAG-AAA | c.3181_3183delinsTTT | p.L1061F | Missense | 21/23 | - | 1 |
3-10381981-A-G | c.3182T>C | p.L1061P | Missense | 21/23 | - | 1 |
3-10381982-G-A | c.3181C>T | p.L1061= | Synonymous | 21/23 | - | 1 |
3-10381983-C-T | c.3180G>A | p.Q1060= | Synonymous | 21/23 | - | 1 |
3-10381990-G-A | c.3173C>T | p.P1058L | Missense | 21/23 | - | 3 |
3-10381992-A-C | c.3171T>G | p.S1057= | Synonymous | 21/23 | - | 1 |
3-10381992-A-G | c.3171T>C | p.S1057= | Synonymous | 21/23 | - | 1 |
3-10381992-A-T | c.3171T>A | p.S1057= | Synonymous | 21/23 | - | 1 |
3-10381994-A-C | c.3169T>G | p.S1057A | Missense | 21/23 | - | 1 |
3-10381996-C-A | c.3167G>T | p.C1056F | Missense | 21/23 | - | 2 |
3-10381996-C-G | c.3167G>C | p.C1056S | Missense | 21/23 | - | 1 |
3-10382000-T-A | c.3163A>T | p.S1055C | Missense | 21/23 | - | 2 |
3-10382001-G-C | c.3162C>G | p.F1054L | Missense | 21/23 | - | 3 |
3-10382001-G-T | c.3162C>A | p.F1054L | Missense | 21/23 | - | 2 |
3-10382003-A-G | c.3160T>C | p.F1054L | Missense | 21/23 | - | 2 |
3-10382006-G-A | c.3157C>T | p.P1053S | Missense | 21/23 | - | 1 |
3-10382006-G-C | c.3157C>G | p.P1053A | Missense | 21/23 | - | 1 |
3-10382009-T-G | c.3154A>C | p.K1052Q | Missense | 21/23 | - | 1 |
3-10382010-C-T | c.3153G>A | p.G1051= | Synonymous | 21/23 | - | 1 |
3-10382023-A-C | c.3140T>G | p.V1047G | Missense | 21/23 | - | 1 |
3-10382023-CA-C | c.3140del | p.V1047Gfs*26 | Frameshift | 21/23 | - | 1 |
3-10382024-C-A | c.3139G>T | p.V1047L | Missense | 21/23 | - | 1 |
3-10382024-C-G | c.3139G>C | p.V1047L | Missense | 21/23 | - | 1 |
3-10382025-G-A | c.3138C>T | p.I1046= | Synonymous | 21/23 | - | 1 |
3-10382025-G-T | c.3138C>A | p.I1046= | Synonymous | 21/23 | - | 1 |
3-10382030-C-A | c.3133G>T | p.V1045L | Missense | 21/23 | - | 1 |
3-10382030-C-G | c.3133G>C | p.V1045L | Missense | 21/23 | - | 1 |
3-10382033-T-A | c.3130A>T | p.I1044L | Missense | 21/23 | - | 1 |
3-10382033-T-G | c.3130A>C | p.I1044L | Missense | 21/23 | - | 1 |
3-10382111-T-C | c.3129+66A>G | - | IntronicSNV | - | 20/22 | 9 |
3-10382111-T-G | c.3129+66A>C | - | IntronicSNV | - | 20/22 | 8 |
3-10382148-G-A | c.3129+29C>T | - | IntronicSNV | - | 20/22 | 10 |
3-10382184-G-A | c.3122C>T | p.A1041V | Missense | 20/23 | - | 1 |
3-10382185-C-T | c.3121G>A | p.A1041T | Missense | 20/23 | - | 1 |
3-10382189-G-T | c.3117C>A | p.T1039= | Synonymous | 20/23 | - | 1 |
3-10382194-C-G | c.3112G>C | p.G1038R | Missense | 20/23 | - | 1 |
3-10382200-C-T | c.3106G>A | p.V1036M | Missense | 20/23 | - | 1 |
3-10382201-G-A | c.3105C>T | p.I1035= | Synonymous | 20/23 | - | 4 |
3-10382201-G-T | c.3105C>A | p.I1035= | Synonymous | 20/23 | - | 1 |
3-10382204-G-A | c.3102C>T | p.T1034= | Synonymous | 20/23 | - | 1 |
3-10382207-G-C | c.3099C>G | p.C1033W | Missense | 20/23 | - | 1 |
3-10382208-C-A | c.3098G>T | p.C1033F | Missense | 20/23 | - | 1 |
3-10382214-A-T | c.3092T>A | p.I1031N | Missense | 20/23 | - | 1 |
3-10382218-G-A | c.3088C>T | p.P1030S | Missense | 20/23 | - | 1 |
3-10382223-C-T | c.3083G>A | p.R1028Q | Missense | 20/23 | - | 2 |
3-10382224-G-A | c.3082C>T | p.R1028W | Missense | 20/23 | - | 4 |
3-10382230-T-C | c.3076A>G | p.I1026V | Missense | 20/23 | - | 2 |
3-10382232-C-T | c.3074G>A | p.G1025D | Missense | 20/23 | - | 1 |
3-10382233-C-T | c.3073G>A | p.G1025S | Missense | 20/23 | - | 2 |
3-10382234-G-T | c.3072C>A | p.D1024E | Missense | 20/23 | - | 1 |
3-10382238-A-C | c.3068T>G | p.F1023C | Missense | 20/23 | - | 1 |
3-10382244-T-C | c.3062A>G | p.N1021S | Missense | 20/23 | - | 1 |
3-10382246-GC-TT | c.3059_3060delinsAA | p.R1020Q | Missense | 20/23 | - | 1 |
3-10382247-C-T | c.3059G>A | p.R1020H | Missense | 20/23 | - | 1 |
3-10382248-G-A | c.3058C>T | p.R1020C | Missense | 20/23 | - | 3 |
3-10382251-C-T | c.3055G>A | p.E1019K | Missense | 20/23 | - | 2 |
3-10382252-G-A | c.3054C>T | p.G1018= | Synonymous | 20/23 | - | 2 |
3-10382252-G-C | c.3054C>G | p.G1018= | Synonymous | 20/23 | - | 2 |
3-10382252-G-T | c.3054C>A | p.G1018= | Synonymous | 20/23 | - | 2 |
3-10382254-C-T | c.3052G>A | p.G1018S | Missense | 20/23 | - | 2 |
3-10382255-G-A | c.3051C>T | p.H1017= | Synonymous | 20/23 | - | 1 |
3-10382257-G-A | c.3049C>T | p.H1017Y | Missense | 20/23 | - | 1 |
3-10382259-A-G | c.3047T>C | p.I1016T | Missense | 20/23 | - | 1 |
3-10382264-GC-TT | c.3041_3042delinsAA | p.R1014Q | Missense | 20/23 | - | 1 |
3-10382266-G-A | c.3040C>T | p.R1014C | Missense | 20/23 | - | 1 |
3-10382269-C-T | c.3037G>A | p.A1013T | Missense | 20/23 | - | 1 |
3-10382288-C-T | c.3018G>A | p.Q1006= | Synonymous | 20/23 | - | 1 |
3-10382294-C-A | c.3012G>T | p.M1004I | Missense | 20/23 | - | 1 |
3-10382299-C-T | c.3007G>A | p.V1003I | Missense | 20/23 | - | 1 |
3-10382300-G-A | c.3006C>T | p.F1002= | Synonymous | 20/23 | - | 2 |
3-10382301-A-T | c.3005T>A | p.F1002Y | Missense | 20/23 | - | 5 |
3-10382314-AT-A | c.2992del | p.I998Sfs*7 | Frameshift | 20/23 | - | 1 |
3-10382314-T-C | c.2992A>G | p.I998V | Missense | 20/23 | - | 1 |
3-10382315-G-C | c.2991C>G | p.I997M | Missense | 20/23 | - | 1 |
3-10382329-TC-T | c.2977del | p.E993Nfs*12 | Frameshift | 20/23 | - | 1 |
3-10382334-G-C | c.2972C>G | p.P991R | Missense | 20/23 | - | 1 |
3-10382339-C-T | c.2967G>A | p.S989= | Synonymous | 20/23 | - | 1 |
3-10382340-G-A | c.2966C>T | p.S989L | Missense | 20/23 | - | 4 |
3-10382350-G-C | c.2956C>G | p.P986A | Missense | 20/23 | - | 1 |
3-10382351-C-T | c.2955G>A | p.A985= | Synonymous | 20/23 | - | 1 |
3-10382352-G-A | c.2954C>T | p.A985V | Missense | 20/23 | - | 2 |
3-10382353-C-T | c.2953G>A | p.A985T | Missense | 20/23 | - | 1 |
3-10382354-G-A | c.2952C>T | p.N984= | Synonymous | 20/23 | - | 2 |
3-10382354-G-C | c.2952C>G | p.N984K | Missense | 20/23 | - | 1 |
3-10382354-G-T | c.2952C>A | p.N984K | Missense | 20/23 | - | 1 |
3-10382357-C-T | c.2949G>A | p.R983= | Synonymous | 20/23 | - | 1 |
3-10382358-CT-TG | c.2947_2948delinsCA | p.R983Q | Missense | 20/23 | - | 1 |
3-10382359-T-A | c.2947A>T | p.R983W | Missense | 20/23 | - | 2 |
3-10382360-C-T | c.2946G>A | p.G982= | Synonymous | 20/23 | - | 1 |
3-10382361-C-G | c.2945G>C | p.G982A | Missense | 20/23 | - | 1 |
3-10382361-C-T | c.2945G>A | p.G982E | Missense | 20/23 | - | 1 |
3-10382359-TC-T | c.2946del | p.R983Gfs*22 | Frameshift | 20/23 | - | 1 |
3-10382362-C-T | c.2944G>A | p.G982R | Missense | 20/23 | - | 2 |
3-10382363-G-A | c.2943C>T | p.S981= | Synonymous | 20/23 | - | 1 |
3-10382368-C-G | c.2938G>C | p.D980H | Missense | 20/23 | - | 1 |
3-10382368-C-T | c.2938G>A | p.D980N | Missense | 20/23 | - | 1 |
3-10382369-G-A | c.2937C>T | p.I979= | Synonymous | 20/23 | - | 2 |
3-10382369-G-T | c.2937C>A | p.I979= | Synonymous | 20/23 | - | 1 |
3-10382375-G-A | c.2931C>T | p.F977= | Synonymous | 20/23 | - | 1 |
3-10382386-C-T | c.2920G>A | p.E974K | Missense | 20/23 | - | 4 |
3-10382387-G-A | c.2919C>T | p.G973= | Synonymous | 20/23 | - | 2 |
3-10382387-G-C | c.2919C>G | p.G973= | Synonymous | 20/23 | - | 1 |
3-10382387-G-T | c.2919C>A | p.G973= | Synonymous | 20/23 | - | 3 |
3-10382537-T-G | c.2918-149A>C | - | IntronicSNV | - | 19/22 | 2 |
3-10384158-G-A | c.2917+278C>T | - | IntronicSNV | - | 19/22 | 1 |
3-10384425-G-A | c.2917+11C>T | - | IntronicSNV | - | 19/22 | 2 |
3-10384445-G-A | c.2908C>T | p.L970F | Missense | 19/23 | - | 1 |
3-10384451-T-G | c.2902A>C | p.T968P | Missense | 19/23 | - | 1 |
3-10384452-G-A | c.2901C>T | p.F967= | Synonymous | 19/23 | - | 1 |
3-10384455-G-C | c.2898C>G | p.I966M | Missense | 19/23 | - | 1 |
3-10384456-A-T | c.2897T>A | p.I966N | Missense | 19/23 | - | 1 |
3-10384457-T-C | c.2896A>G | p.I966V | Missense | 19/23 | - | 2 |
3-10384461-G-A | c.2892C>T | p.A964= | Synonymous | 19/23 | - | 1 |
3-10384469-G-A | c.2884C>T | p.Q962* | Nonsense | 19/23 | - | 4 |
3-10384472-A-G | c.2881T>C | p.Y961H | Missense | 19/23 | - | 3 |
3-10384475-C-T | c.2878G>A | p.V960I | Missense | 19/23 | - | 1 |
3-10384477-G-A | c.2876C>T | p.A959V | Missense | 19/23 | - | 1 |
3-10384484-C-A | c.2869G>T | p.G957C | Missense | 19/23 | - | 1 |
3-10384484-C-T | c.2869G>A | p.G957S | Missense | 19/23 | - | 2 |
3-10384492-T-A | c.2861A>T | p.N954I | Missense | 19/23 | - | 1 |
3-10384497-C-A | c.2856G>T | p.M952I | Missense | 19/23 | - | 1 |
3-10384497-C-G | c.2856G>C | p.M952I | Missense | 19/23 | - | 1 |
3-10384497-C-T | c.2856G>A | p.M952I | Missense | 19/23 | - | 1 |
3-10384500-C-T | c.2853G>A | p.M951I | Missense | 19/23 | - | 2 |
3-10384502-T-C | c.2851A>G | p.M951V | Missense | 19/23 | - | 1 |
3-10384512-G-A | c.2841C>T | p.I947= | Synonymous | 19/23 | - | 2 |
3-10384518-C-G | c.2835G>C | p.P945= | Synonymous | 19/23 | - | 1 |
3-10384519-G-A | c.2834C>T | p.P945L | Missense | 19/23 | - | 1 |
3-10384519-G-T | c.2834C>A | p.P945Q | Missense | 19/23 | - | 1 |
3-10384521-C-T | c.2832G>A | p.K944= | Synonymous | 19/23 | - | 1 |
3-10384528-C-T | c.2825G>A | p.R942H | Missense | 19/23 | - | 1 |
3-10384529-G-A | c.2824C>T | p.R942C | Missense | 19/23 | - | 2 |
3-10384531-CC-TT | c.2821_2822delinsAA | p.G941N | Missense | 19/23 | - | 2 |
3-10384533-G-A | c.2820C>T | p.Y940= | Synonymous | 19/23 | - | 1 |
3-10384534-T-C | c.2819A>G | p.Y940C | Missense | 19/23 | - | 1 |
3-10384537-G-A | c.2816C>T | p.P939L | Missense | 19/23 | - | 2 |
3-10384538-G-A | c.2815C>T | p.P939S | Missense | 19/23 | - | 1 |
3-10384542-CCT-ACA | c.2809_2811delinsTGT | p.R937C | Missense | 19/23 | - | 1 |
3-10384542-C-T | c.2811G>A | p.R937= | Synonymous | 19/23 | - | 2 |
3-10384545-C-G | c.2808G>C | p.L936= | Synonymous | 19/23 | - | 2 |
3-10384545-C-T | c.2808G>A | p.L936= | Synonymous | 19/23 | - | 2 |
3-10384548-C-A | c.2805G>T | p.L935= | Synonymous | 19/23 | - | 1 |
3-10384548-C-G | c.2805G>C | p.L935= | Synonymous | 19/23 | - | 1 |
3-10384548-C-T | c.2805G>A | p.L935= | Synonymous | 19/23 | - | 1 |
3-10384550-G-A | c.2803C>T | p.L935= | Synonymous | 19/23 | - | 1 |
3-10384553-G-T | c.2800C>A | p.L934M | Missense | 19/23 | - | 1 |
3-10384557-C-A | c.2796G>T | p.E932D | Missense | 19/23 | - | 1 |
3-10384559-C-T | c.2794G>A | p.E932K | Missense | 19/23 | - | 3 |
3-10384561-G-A | c.2792C>T | p.T931M | Missense | 19/23 | - | 6 |
3-10384564-G-T | c.2789C>A | p.P930H | Missense | 19/23 | - | 1 |
3-10384567-G-A | c.2786C>T | p.P929L | Missense | 19/23 | - | 3 |
3-10384568-G-A | c.2785C>T | p.P929S | Missense | 19/23 | - | 1 |
3-10384568-G-T | c.2785C>A | p.P929T | Missense | 19/23 | - | 1 |
3-10384575-G-T | c.2778C>A | p.A926= | Synonymous | 19/23 | - | 1 |
3-10384583-C-T | c.2770G>A | p.A924T | Missense | 19/23 | - | 1 |
3-10384588-G-A | c.2765C>T | p.S922L | Missense | 19/23 | - | 4 |
3-10384596-C-G | c.2757G>C | p.T919= | Synonymous | 19/23 | - | 1 |
3-10384596-C-T | c.2757G>A | p.T919= | Synonymous | 19/23 | - | 3 |
3-10384597-G-A | c.2756C>T | p.T919M | Missense | 19/23 | - | 1 |
3-10384600-T-C | c.2753A>G | p.D918G | Missense | 19/23 | - | 1 |
3-10384601-C-T | c.2752G>A | p.D918N | Missense | 19/23 | - | 1 |
3-10384602-C-T | c.2751G>A | p.M917I | Missense | 19/23 | - | 1 |
3-10384604-T-A | c.2749A>T | p.M917L | Missense | 19/23 | - | 2 |
3-10384604-T-G | c.2749A>C | p.M917L | Missense | 19/23 | - | 1 |
3-10384605-G-A | c.2748C>T | p.I916= | Synonymous | 19/23 | - | 2 |
3-10384607-T-A | c.2746A>T | p.I916F | Missense | 19/23 | - | 1 |
3-10384610-G-A | c.2743C>T | p.L915F | Missense | 19/23 | - | 1 |
3-10384611-G-A | c.2742C>T | p.N914= | Synonymous | 19/23 | - | 1 |
3-10384612-T-C | c.2741A>G | p.N914S | Missense | 19/23 | - | 3 |
3-10384616-C-T | c.2737G>A | p.V913M | Missense | 19/23 | - | 5 |
3-10384618-C-T | c.2735G>A | p.W912* | Nonsense | 19/23 | - | 1 |
3-10384620-G-A | c.2733C>T | p.L911= | Synonymous | 19/23 | - | 1 |
3-10384620-G-C | c.2733C>G | p.L911= | Synonymous | 19/23 | - | 1 |
3-10384629-C-A | c.2724G>T | p.V908= | Synonymous | 19/23 | - | 1 |
3-10384629-C-G | c.2724G>C | p.V908= | Synonymous | 19/23 | - | 1 |
3-10384629-C-T | c.2724G>A | p.V908= | Synonymous | 19/23 | - | 2 |
3-10384631-C-T | c.2722G>A | p.V908M | Missense | 19/23 | - | 2 |
3-10384638-C-T | c.2715G>A | p.L905= | Synonymous | 19/23 | - | 2 |
3-10384642-G-A | c.2711C>T | p.P904L | Missense | 19/23 | - | 1 |
3-10384649-C-T | c.2704G>A | p.D902N | Missense | 19/23 | - | 1 |
3-10384788-G-A | c.2704-139C>T | - | IntronicSNV | - | 18/22 | 1 |
3-10386797-C-T | c.2703+271G>A | - | IntronicSNV | - | 18/22 | 1 |
3-10387059-C-A | c.2703+9G>T | - | IntronicSNV | - | 18/22 | 11 |
3-10387059-C-T | c.2703+9G>A | - | IntronicSNV | - | 18/22 | 8 |
3-10387068-C-A | c.2703G>T | p.Q901H | Missense | 18/23 | - | 1 |
3-10387068-C-G | c.2703G>C | p.Q901H | Missense | 18/23 | - | 1 |
3-10387069-T-C | c.2702A>G | p.Q901R | Missense | 18/23 | - | 1 |
3-10387070-G-A | c.2701C>T | p.Q901* | Nonsense | 18/23 | - | 1 |
3-10387071-C-A | c.2700G>T | p.T900= | Synonymous | 18/23 | - | 1 |
3-10387071-C-G | c.2700G>C | p.T900= | Synonymous | 18/23 | - | 1 |
3-10387071-C-T | c.2700G>A | p.T900= | Synonymous | 18/23 | - | 1 |
3-10387072-G-A | c.2699C>T | p.T900M | Missense | 18/23 | - | 4 |
3-10387076-T-C | c.2695A>G | p.I899V | Missense | 18/23 | - | 1 |
3-10387078-C-A | c.2693G>T | p.C898F | Missense | 18/23 | - | 2 |
3-10387078-CA-GT | c.2692_2693delinsAC | p.C898T | Missense | 18/23 | - | 1 |
3-10387081-G-T | c.2690C>A | p.A897D | Missense | 18/23 | - | 1 |
3-10387082-C-T | c.2689G>A | p.A897T | Missense | 18/23 | - | 3 |
3-10387084-CC-TT | c.2686_2687delinsAA | p.G896N | Missense | 18/23 | - | 1 |
3-10387089-G-C | c.2682C>G | p.F894L | Missense | 18/23 | - | 1 |
3-10387089-G-T | c.2682C>A | p.F894L | Missense | 18/23 | - | 1 |
3-10387091-A-G | c.2680T>C | p.F894L | Missense | 18/23 | - | 1 |
3-10387099-A-G | c.2672T>C | p.I891T | Missense | 18/23 | - | 1 |
3-10387101-C-T | c.2670G>A | p.V890= | Synonymous | 18/23 | - | 3 |
3-10387112-C-T | c.2659G>A | p.V887M | Missense | 18/23 | - | 2 |
3-10387113-G-C | c.2658C>G | p.N886K | Missense | 18/23 | - | 2 |
3-10387113-G-T | c.2658C>A | p.N886K | Missense | 18/23 | - | 1 |
3-10387118-C-T | c.2653G>A | p.V885I | Missense | 18/23 | - | 1 |
3-10387119-G-A | c.2652C>T | p.T884= | Synonymous | 18/23 | - | 1 |
3-10387120-G-A | c.2651C>T | p.T884I | Missense | 18/23 | - | 2 |
3-10387121-T-G | c.2650A>C | p.T884P | Missense | 18/23 | - | 1 |
3-10387127-G-T | c.2644C>A | p.Q882K | Missense | 18/23 | - | 1 |
3-10387133-G-A | c.2638C>T | p.Q880* | Nonsense | 18/23 | - | 3 |
3-10387136-A-C | c.2635T>G | p.L879V | Missense | 18/23 | - | 1 |
3-10387137-G-A | c.2634C>T | p.F878= | Synonymous | 18/23 | - | 1 |
3-10387137-G-T | c.2634C>A | p.F878L | Missense | 18/23 | - | 5 |
3-10387137-G-C | c.2634C>G | p.F878L | Missense | 18/23 | - | 4 |
3-10387139-A-G | c.2632T>C | p.F878L | Missense | 18/23 | - | 4 |
3-10387143-G-A | c.2628C>T | p.S876= | Synonymous | 18/23 | - | 1 |
3-10387150-C-T | c.2621G>A | p.S874N | Missense | 18/23 | - | 1 |
3-10387152-G-A | c.2619C>T | p.D873= | Synonymous | 18/23 | - | 2 |
3-10387158-G-A | c.2613C>T | p.V871= | Synonymous | 18/23 | - | 1 |
3-10387161-G-A | c.2610C>T | p.N870= | Synonymous | 18/23 | - | 2 |
3-10387161-G-C | c.2610C>G | p.N870K | Missense | 18/23 | - | 2 |
3-10387161-G-T | c.2610C>A | p.N870K | Missense | 18/23 | - | 1 |
3-10387165-C-A | c.2606G>T | p.R869L | Missense | 18/23 | - | 1 |
3-10387165-C-T | c.2606G>A | p.R869H | Missense | 18/23 | - | 2 |
3-10387169-C-T | c.2602G>A | p.G868S | Missense | 18/23 | - | 1 |
3-10387187-C-T | c.2584G>A | p.V862I | Missense | 18/23 | - | 4 |
3-10387188-G-A | c.2583C>T | p.I861= | Synonymous | 18/23 | - | 1 |
3-10387188-G-C | c.2583C>G | p.I861M | Missense | 18/23 | - | 1 |
3-10387188-G-T | c.2583C>A | p.I861= | Synonymous | 18/23 | - | 1 |
3-10387191-G-C | c.2580C>G | p.S860R | Missense | 18/23 | - | 3 |
3-10387191-G-T | c.2580C>A | p.S860R | Missense | 18/23 | - | 3 |
3-10387193-T-G | c.2578A>C | p.S860R | Missense | 18/23 | - | 3 |
3-10387192-C-G | c.2579G>C | p.S860T | Missense | 18/23 | - | 3 |
3-10387192-C-T | c.2579G>A | p.S860N | Missense | 18/23 | - | 1 |
3-10387192-CT-AA | c.2578_2579delinsTT | p.S860F | Missense | 18/23 | - | 1 |
3-10387193-T-A | c.2578A>T | p.S860C | Missense | 18/23 | - | 1 |
3-10387197-G-A | c.2574C>T | p.F858= | Synonymous | 18/23 | - | 1 |
3-10387210-G-A | c.2561C>T | p.T854I | Missense | 18/23 | - | 1 |
3-10387211-T-C | c.2560A>G | p.T854A | Missense | 18/23 | - | 1 |
3-10387214-G-A | c.2557C>T | p.L853= | Synonymous | 18/23 | - | 1 |
3-10387214-G-C | c.2557C>G | p.L853V | Missense | 18/23 | - | 1 |
3-10387214-G-T | c.2557C>A | p.L853M | Missense | 18/23 | - | 1 |
3-10387215-G-A | c.2556C>T | p.I852= | Synonymous | 18/23 | - | 2 |
3-10387215-G-T | c.2556C>A | p.I852= | Synonymous | 18/23 | - | 1 |
3-10387218-G-A | c.2553C>T | p.I851= | Synonymous | 18/23 | - | 3 |
3-10387219-A-G | c.2552T>C | p.I851T | Missense | 18/23 | - | 1 |
3-10387223-C-T | c.2548G>A | p.D850N | Missense | 18/23 | - | 2 |
3-10387227-G-A | c.2544C>T | p.A848= | Synonymous | 18/23 | - | 1 |
3-10387232-C-T | c.2539G>A | p.E847K | Missense | 18/23 | - | 5 |
3-10387235-T-A | c.2536A>T | p.K846* | Nonsense | 18/23 | - | 1 |
3-10387241-C-T | c.2530G>A | p.V844M | Missense | 18/23 | - | 3 |
3-10387253-C-T | c.2518G>A | p.A840T | Missense | 18/23 | - | 1 |
3-10387254-G-A | c.2517C>T | p.I839= | Synonymous | 18/23 | - | 1 |
3-10387255-A-G | c.2516T>C | p.I839T | Missense | 18/23 | - | 1 |
3-10387255-A-T | c.2516T>A | p.I839N | Missense | 18/23 | - | 1 |
3-10387258-C-G | c.2513G>C | p.G838A | Missense | 18/23 | - | 1 |
3-10387258-C-T | c.2513G>A | p.G838D | Missense | 18/23 | - | 2 |
3-10387717-T-A | c.2509A>T | p.M837L | Missense | 17/23 | - | 2 |
3-10387717-T-G | c.2509A>C | p.M837L | Missense | 17/23 | - | 1 |
3-10387720-C-T | c.2506G>A | p.A836T | Missense | 17/23 | - | 1 |
3-10387721-G-A | c.2505C>T | p.F835= | Synonymous | 17/23 | - | 3 |
3-10387726-C-T | c.2500G>A | p.G834S | Missense | 17/23 | - | 2 |
3-10387728-A-T | c.2498T>A | p.V833E | Missense | 17/23 | - | 1 |
3-10387732-C-A | c.2494G>T | p.D832Y | Missense | 17/23 | - | 1 |
3-10387732-C-CG | c.2493dup | p.D832Rfs*12 | Frameshift | 17/23 | - | 1 |
3-10387742-G-A | c.2484C>T | p.L828= | Synonymous | 17/23 | - | 2 |
3-10387742-G-C | c.2484C>G | p.L828= | Synonymous | 17/23 | - | 1 |
3-10387742-G-T | c.2484C>A | p.L828= | Synonymous | 17/23 | - | 1 |
3-10387746-G-A | c.2480C>T | p.A827V | Missense | 17/23 | - | 1 |
3-10387749-G-A | c.2477C>T | p.P826L | Missense | 17/23 | - | 1 |
3-10387749-G-T | c.2477C>A | p.P826H | Missense | 17/23 | - | 1 |
3-10387750-G-T | c.2476C>A | p.P826T | Missense | 17/23 | - | 1 |
3-10387752-C-T | c.2474G>A | p.G825E | Missense | 17/23 | - | 5 |
3-10387753-C-T | c.2473G>A | p.G825R | Missense | 17/23 | - | 1 |
3-10387756-C-T | c.2470G>A | p.D824N | Missense | 17/23 | - | 1 |
3-10387757-G-A | c.2469C>T | p.N823= | Synonymous | 17/23 | - | 1 |
3-10387760-G-A | c.2466C>T | p.T822= | Synonymous | 17/23 | - | 1 |
3-10387760-G-C | c.2466C>G | p.T822= | Synonymous | 17/23 | - | 1 |
3-10387760-G-T | c.2466C>A | p.T822= | Synonymous | 17/23 | - | 1 |
3-10387762-T-C | c.2464A>G | p.T822A | Missense | 17/23 | - | 1 |
3-10387765-C-G | c.2461G>C | p.G821R | Missense | 17/23 | - | 1 |
3-10387765-C-T | c.2461G>A | p.G821R | Missense | 17/23 | - | 3 |
3-10387766-G-A | c.2460C>T | p.D820= | Synonymous | 17/23 | - | 1 |
3-10387773-G-A | c.2453C>T | p.T818M | Missense | 17/23 | - | 9 |
3-10387775-CAC-GAT | c.2449_2451delinsATC | p.V817I | Missense | 17/23 | - | 2 |
3-10387777-C-T | c.2449G>A | p.V817M | Missense | 17/23 | - | 5 |
3-10387778-G-A | c.2448C>T | p.A816= | Synonymous | 17/23 | - | 1 |
3-10387780-C-T | c.2446G>A | p.A816T | Missense | 17/23 | - | 1 |
3-10387782-A-C | c.2444T>G | p.V815G | Missense | 17/23 | - | 1 |
3-10387785-A-C | c.2441T>G | p.V814G | Missense | 17/23 | - | 3 |
3-10387791-C-T | c.2435G>A | p.R812Q | Missense | 17/23 | - | 1 |
3-10387792-G-A | c.2434C>T | p.R812W | Missense | 17/23 | - | 4 |
3-10387793-C-T | c.2433G>A | p.Q811= | Synonymous | 17/23 | - | 1 |
3-10387798-C-G | c.2428G>C | p.E810Q | Missense | 17/23 | - | 1 |
3-10387798-C-T | c.2428G>A | p.E810K | Missense | 17/23 | - | 1 |
3-10387804-G-A | c.2422C>T | p.H808Y | Missense | 17/23 | - | 1 |
3-10387808-G-A | c.2418C>T | p.S806= | Synonymous | 17/23 | - | 1 |
3-10387813-C-A | c.2413G>T | p.D805Y | Missense | 17/23 | - | 3 |
3-10387813-C-T | c.2413G>A | p.D805N | Missense | 17/23 | - | 1 |
3-10387818-A-C | c.2408T>G | p.I803S | Missense | 17/23 | - | 1 |
3-10387853-G-T | c.2405-32C>A | - | IntronicSNV | - | 16/22 | 1 |
3-10391587-C-T | c.2404+209G>A | - | IntronicSNV | - | 16/22 | 1 |
3-10391641-G-A | c.2404+155C>T | - | IntronicSNV | - | 16/22 | 1 |
3-10391753-T-C | c.2404+43A>G | - | IntronicSNV | - | 16/22 | 1 |
3-10391799-T-G | c.2401A>C | p.K801Q | Missense | 16/23 | - | 1 |
3-10391802-C-T | c.2398G>A | p.V800I | Missense | 16/23 | - | 4 |
3-10391803-C-T | c.2397G>A | p.L799= | Synonymous | 16/23 | - | 2 |
3-10391807-G-C | c.2393C>G | p.T798S | Missense | 16/23 | - | 1 |
3-10391808-T-A | c.2392A>T | p.T798S | Missense | 16/23 | - | 1 |
3-10391813-T-G | c.2387A>C | p.K796T | Missense | 16/23 | - | 1 |
3-10391815-G-C | c.2385C>G | p.D795E | Missense | 16/23 | - | 1 |
3-10391819-G-A | c.2381C>T | p.T794M | Missense | 16/23 | - | 4 |
3-10391822-G-A | c.2378C>T | p.P793L | Missense | 16/23 | - | 3 |
3-10391825-G-A | c.2375C>T | p.S792F | Missense | 16/23 | - | 4 |
3-10391827-G-A | c.2373C>T | p.S791= | Synonymous | 16/23 | - | 1 |
3-10391827-G-C | c.2373C>G | p.S791= | Synonymous | 16/23 | - | 1 |
3-10391827-G-T | c.2373C>A | p.S791= | Synonymous | 16/23 | - | 1 |
3-10391829-A-C | c.2371T>G | p.S791A | Missense | 16/23 | - | 1 |
3-10391830-G-A | c.2370C>T | p.R790= | Synonymous | 16/23 | - | 1 |
3-10391830-GCG-CCA | c.2368_2370delinsTGG | p.R790W | Missense | 16/23 | - | 1 |
3-10391831-C-T | c.2369G>A | p.R790H | Missense | 16/23 | - | 2 |
3-10391840-A-T | c.2360T>A | p.V787E | Missense | 16/23 | - | 1 |
3-10391842-CC-AT | c.2357_2358delinsAT | p.R786H | Missense | 16/23 | - | 1 |
3-10391843-C-T | c.2357G>A | p.R786Q | Missense | 16/23 | - | 1 |
3-10391850-T-G | c.2350A>C | p.K784Q | Missense | 16/23 | - | 1 |
3-10391854-C-G | c.2346G>C | p.W782C | Missense | 16/23 | - | 1 |
3-10391857-GAT-TTA | c.2341_2343delinsTAA | p.I781* | Nonsense | 16/23 | - | 2 |
3-10391858-A-G | c.2342T>C | p.I781T | Missense | 16/23 | - | 3 |
3-10391858-AT-GG | c.2341_2342delinsCC | p.I781P | Missense | 16/23 | - | 3 |
3-10391863-G-C | c.2337C>G | p.D779E | Missense | 16/23 | - | 1 |
3-10391865-C-T | c.2335G>A | p.D779N | Missense | 16/23 | - | 1 |
3-10391868-T-C | c.2332A>G | p.I778V | Missense | 16/23 | - | 1 |
3-10391870-C-A | c.2330G>T | p.R777L | Missense | 16/23 | - | 1 |
3-10391870-C-T | c.2330G>A | p.R777Q | Missense | 16/23 | - | 7 |
3-10391871-G-A | c.2329C>T | p.R777* | Nonsense | 16/23 | - | 2 |
3-10391874-C-T | c.2326G>A | p.E776K | Missense | 16/23 | - | 5 |
3-10391875-C-T | c.2325G>A | p.Q775= | Synonymous | 16/23 | - | 1 |
3-10391880-C-T | c.2320G>A | p.E774K | Missense | 16/23 | - | 1 |
3-10391882-A-G | c.2318T>C | p.I773T | Missense | 16/23 | - | 1 |
3-10391882-AT-GG | c.2317_2318delinsCC | p.I773P | Missense | 16/23 | - | 2 |
3-10391883-T-A | c.2317A>T | p.I773F | Missense | 16/23 | - | 1 |
3-10392036-C-G | c.2316+46G>C | - | IntronicSNV | - | 15/22 | 1 |
3-10392036-C-T | c.2316+46G>A | - | IntronicSNV | - | 15/22 | 1 |
3-10392069-T-C | c.2316+13A>G | - | IntronicSNV | - | 15/22 | 1 |
3-10392078-G-A | c.2316+4C>T | - | IntronicSNV | - | 15/22 | 1 |
3-10392084-C-T | c.2314G>A | p.E772K | Missense | 15/23 | - | 2 |
3-10392085-CC-GT | c.2312_2313delinsAC | p.G771D | Missense | 15/23 | - | 1 |
3-10392086-C-A | c.2312G>T | p.G771V | Missense | 15/23 | - | 2 |
3-10392087-C-T | c.2311G>A | p.G771R | Missense | 15/23 | - | 1 |
3-10392092-T-C | c.2306A>G | p.E769G | Missense | 15/23 | - | 1 |
3-10392092-T-G | c.2306A>C | p.E769A | Missense | 15/23 | - | 1 |
3-10392093-C-A | c.2305G>T | p.E769* | Nonsense | 15/23 | - | 1 |
3-10392093-C-T | c.2305G>A | p.E769K | Missense | 15/23 | - | 1 |
3-10392097-GCG-CCA | c.2299_2301delinsTGG | p.R767W | Missense | 15/23 | - | 4 |
3-10392098-C-G | c.2300G>C | p.R767P | Missense | 15/23 | - | 1 |
3-10392098-C-T | c.2300G>A | p.R767H | Missense | 15/23 | - | 1 |
3-10392099-G-T | c.2299C>A | p.R767S | Missense | 15/23 | - | 2 |
3-10392104-C-T | c.2294G>A | p.R765K | Missense | 15/23 | - | 1 |
3-10392106-CCT-ACA | c.2290_2292delinsTGT | p.R764C | Missense | 15/23 | - | 1 |
3-10392117-C-T | c.2281G>A | p.E761K | Missense | 15/23 | - | 2 |
3-10392118-C-T | c.2280G>A | p.K760= | Synonymous | 15/23 | - | 1 |
3-10392119-T-C | c.2279A>G | p.K760R | Missense | 15/23 | - | 1 |
3-10392121-G-A | c.2277C>T | p.G759= | Synonymous | 15/23 | - | 1 |
3-10392123-C-T | c.2275G>A | p.G759S | Missense | 15/23 | - | 1 |
3-10392124-C-A | c.2274G>T | p.E758D | Missense | 15/23 | - | 3 |
3-10392124-C-G | c.2274G>C | p.E758D | Missense | 15/23 | - | 2 |
3-10392126-C-T | c.2272G>A | p.E758K | Missense | 15/23 | - | 2 |
3-10392130-G-A | c.2268C>T | p.C756= | Synonymous | 15/23 | - | 1 |
3-10392130-G-T | c.2268C>A | p.C756* | Nonsense | 15/23 | - | 4 |
3-10392131-C-A | c.2267G>T | p.C756F | Missense | 15/23 | - | 1 |
3-10392144-C-T | c.2254G>A | p.E752K | Missense | 15/23 | - | 3 |
3-10392146-C-A | c.2252G>T | p.G751V | Missense | 15/23 | - | 3 |
3-10392147-C-T | c.2251G>A | p.G751R | Missense | 15/23 | - | 2 |
3-10392150-G-A | c.2248C>T | p.P750S | Missense | 15/23 | - | 5 |
3-10392152-T-C | c.2246A>G | p.H749R | Missense | 15/23 | - | 1 |
3-10392153-G-A | c.2245C>T | p.H749Y | Missense | 15/23 | - | 1 |
3-10392154-G-A | c.2244C>T | p.I748= | Synonymous | 15/23 | - | 1 |
3-10392157-G-A | c.2241C>T | p.I747= | Synonymous | 15/23 | - | 2 |
3-10392163-A-G | c.2235T>C | p.C745= | Synonymous | 15/23 | - | 1 |
3-10392164-C-A | c.2234G>T | p.C745F | Missense | 15/23 | - | 1 |
3-10392166-C-A | c.2232G>T | p.K744N | Missense | 15/23 | - | 1 |
3-10392166-C-G | c.2232G>C | p.K744N | Missense | 15/23 | - | 1 |
3-10392174-C-T | c.2224G>A | p.A742T | Missense | 15/23 | - | 1 |
3-10392177-T-C | c.2221A>G | p.I741V | Missense | 15/23 | - | 1 |
3-10392179-G-T | c.2219C>A | p.A740D | Missense | 15/23 | - | 1 |
3-10392182-C-G | c.2216G>C | p.R739P | Missense | 15/23 | - | 2 |
3-10392183-G-A | c.2215C>T | p.R739W | Missense | 15/23 | - | 1 |
3-10392186-C-T | c.2212G>A | p.A738T | Missense | 15/23 | - | 1 |
3-10392187-C-A | c.2211G>T | p.T737= | Synonymous | 15/23 | - | 1 |
3-10392187-C-G | c.2211G>C | p.T737= | Synonymous | 15/23 | - | 2 |
3-10392187-C-T | c.2211G>A | p.T737= | Synonymous | 15/23 | - | 1 |
3-10392188-G-A | c.2210C>T | p.T737M | Missense | 15/23 | - | 3 |
3-10392188-G-T | c.2210C>A | p.T737K | Missense | 15/23 | - | 1 |
3-10392193-G-A | c.2205C>T | p.I735= | Synonymous | 15/23 | - | 3 |
3-10392197-T-G | c.2201A>C | p.N734T | Missense | 15/23 | - | 1 |
3-10392198-T-G | c.2200A>C | p.N734H | Missense | 15/23 | - | 1 |
3-10392201-C-T | c.2197G>A | p.D733N | Missense | 15/23 | - | 2 |
3-10392202-G-A | c.2196C>T | p.G732= | Synonymous | 15/23 | - | 1 |
3-10392202-G-C | c.2196C>G | p.G732= | Synonymous | 15/23 | - | 1 |
3-10392202-GC-CT | c.2195_2196delinsAG | p.G732E | Missense | 15/23 | - | 1 |
3-10392202-G-T | c.2196C>A | p.G732= | Synonymous | 15/23 | - | 1 |
3-10392211-C-T | c.2187G>A | p.M729I | Missense | 15/23 | - | 2 |
3-10392213-T-C | c.2185A>G | p.M729V | Missense | 15/23 | - | 1 |
3-10392215-C-A | c.2183G>T | p.R728L | Missense | 15/23 | - | 1 |
3-10392215-C-G | c.2183G>C | p.R728P | Missense | 15/23 | - | 1 |
3-10392215-C-T | c.2183G>A | p.R728H | Missense | 15/23 | - | 1 |
3-10392216-G-A | c.2182C>T | p.R728C | Missense | 15/23 | - | 1 |
3-10392217-GAC-CAT | c.2179_2181delinsATG | p.V727M | Missense | 15/23 | - | 1 |
3-10392219-C-A | c.2179G>T | p.V727F | Missense | 15/23 | - | 2 |
3-10392220-C-T | c.2178G>A | p.T726= | Synonymous | 15/23 | - | 1 |
3-10392221-G-A | c.2177C>T | p.T726M | Missense | 15/23 | - | 1 |
3-10392221-G-T | c.2177C>A | p.T726K | Missense | 15/23 | - | 2 |
3-10392224-A-G | c.2174T>C | p.I725T | Missense | 15/23 | - | 1 |
3-10392224-A-T | c.2174T>A | p.I725N | Missense | 15/23 | - | 1 |
3-10392226-GC-CT | c.2171_2172delinsAG | p.G724E | Missense | 15/23 | - | 1 |
3-10392227-C-T | c.2171G>A | p.G724D | Missense | 15/23 | - | 1 |
3-10392228-C-T | c.2170G>A | p.G724S | Missense | 15/23 | - | 1 |
3-10392229-T-G | c.2169A>C | p.A723= | Synonymous | 15/23 | - | 1 |
3-10392233-C-G | c.2165G>C | p.R722P | Missense | 15/23 | - | 1 |
3-10392233-C-T | c.2165G>A | p.R722Q | Missense | 15/23 | - | 2 |
3-10392234-G-A | c.2164C>T | p.R722W | Missense | 15/23 | - | 1 |
3-10392238-G-T | c.2160C>A | p.C720* | Nonsense | 15/23 | - | 1 |
3-10392241-C-A | c.2157G>T | p.K719N | Missense | 15/23 | - | 2 |
3-10392241-C-G | c.2157G>C | p.K719N | Missense | 15/23 | - | 2 |
3-10392245-C-A | c.2153G>T | p.R718L | Missense | 15/23 | - | 2 |
3-10392245-C-T | c.2153G>A | p.R718H | Missense | 15/23 | - | 2 |
3-10392246-G-A | c.2152C>T | p.R718C | Missense | 15/23 | - | 1 |
3-10392247-G-A | c.2151C>T | p.I717= | Synonymous | 15/23 | - | 1 |
3-10392247-G-C | c.2151C>G | p.I717M | Missense | 15/23 | - | 1 |
3-10392254-T-C | c.2144A>G | p.E715G | Missense | 15/23 | - | 2 |
3-10392258-G-A | c.2140C>T | p.P714S | Missense | 15/23 | - | 4 |
3-10392259-G-A | c.2139C>T | p.V713= | Synonymous | 15/23 | - | 1 |
3-10392261-C-G | c.2137G>C | p.V713L | Missense | 15/23 | - | 1 |
3-10396754-A-G | c.2136+3621T>C | - | IntronicSNV | - | 14/22 | 2 |
3-10396776-TAAAC-T | c.2136+3595_2136+3598del | - | IntronicDeletion | - | 14/22 | 1 |
3-10396909-T-A | c.2136+3466A>T | - | IntronicSNV | - | 14/22 | 1 |
3-10396988-T-C | c.2136+3387A>G | - | IntronicSNV | - | 14/22 | 4 |
3-10397069-T-A | c.2136+3306A>T | - | IntronicSNV | - | 14/22 | 2 |
3-10397069-T-C | c.2136+3306A>G | - | IntronicSNV | - | 14/22 | 2 |
3-10400145-A-G | c.2136+230T>C | - | IntronicSNV | - | 14/22 | 2 |
3-10400231-T-C | c.2136+144A>G | - | IntronicSNV | - | 14/22 | 2 |
3-10400253-C-T | c.2136+122G>A | - | IntronicSNV | - | 14/22 | 1 |
3-10400264-T-C | c.2136+111A>G | - | IntronicSNV | - | 14/22 | 2 |
3-10400266-A-G | c.2136+109T>C | - | IntronicSNV | - | 14/22 | 3 |
3-10400376-T-G | c.2135A>C | p.E712A | Missense | 14/23 | - | 1 |
3-10400377-C-G | c.2134G>C | p.E712Q | Missense | 14/23 | - | 2 |
3-10400378-T-A | c.2133A>T | p.P711= | Synonymous | 14/23 | - | 1 |
3-10400378-T-C | c.2133A>G | p.P711= | Synonymous | 14/23 | - | 3 |
3-10400378-T-G | c.2133A>C | p.P711= | Synonymous | 14/23 | - | 1 |
3-10400380-G-A | c.2131C>T | p.P711S | Missense | 14/23 | - | 1 |
3-10400381-CCG-ACA | c.2128_2130delinsTGT | p.R710C | Missense | 14/23 | - | 2 |
3-10400381-C-A | c.2130G>T | p.R710= | Synonymous | 14/23 | - | 1 |
3-10400381-C-G | c.2130G>C | p.R710= | Synonymous | 14/23 | - | 1 |
3-10400381-C-T | c.2130G>A | p.R710= | Synonymous | 14/23 | - | 1 |
3-10400383-G-T | c.2128C>A | p.R710= | Synonymous | 14/23 | - | 1 |
3-10400384-C-T | c.2127G>A | p.V709= | Synonymous | 14/23 | - | 1 |
3-10400388-G-A | c.2123C>T | p.P708L | Missense | 14/23 | - | 1 |
3-10400388-G-T | c.2123C>A | p.P708Q | Missense | 14/23 | - | 1 |
3-10400395-C-T | c.2116G>A | p.E706K | Missense | 14/23 | - | 1 |
3-10400396-G-C | c.2115C>G | p.I705M | Missense | 14/23 | - | 1 |
3-10400400-C-A | c.2111G>T | p.G704V | Missense | 14/23 | - | 1 |
3-10400402-C-A | c.2109G>T | p.V703= | Synonymous | 14/23 | - | 1 |
3-10400402-C-G | c.2109G>C | p.V703= | Synonymous | 14/23 | - | 1 |
3-10400402-C-T | c.2109G>A | p.V703= | Synonymous | 14/23 | - | 1 |
3-10400407-C-A | c.2104G>T | p.V702L | Missense | 14/23 | - | 3 |
3-10400407-C-G | c.2104G>C | p.V702L | Missense | 14/23 | - | 1 |
3-10400407-C-T | c.2104G>A | p.V702M | Missense | 14/23 | - | 3 |
3-10400415-C-T | c.2096G>A | p.C699Y | Missense | 14/23 | - | 1 |
3-10400416-A-G | c.2095T>C | p.C699R | Missense | 14/23 | - | 3 |
3-10400418-G-A | c.2093C>T | p.T698I | Missense | 14/23 | - | 2 |
3-10400422-G-A | c.2089C>T | p.L697F | Missense | 14/23 | - | 1 |
3-10400425-C-G | c.2086G>C | p.E696Q | Missense | 14/23 | - | 1 |
3-10400425-C-T | c.2086G>A | p.E696K | Missense | 14/23 | - | 6 |
3-10400426-G-A | c.2085C>T | p.N695= | Synonymous | 14/23 | - | 2 |
3-10400427-T-C | c.2084A>G | p.N695S | Missense | 14/23 | - | 1 |
3-10400431-G-A | c.2080C>T | p.L694F | Missense | 14/23 | - | 2 |
3-10400434-T-C | c.2077A>G | p.I693V | Missense | 14/23 | - | 1 |
3-10400440-T-A | c.2071A>T | p.N691Y | Missense | 14/23 | - | 1 |
3-10400443-C-G | c.2068G>C | p.E690Q | Missense | 14/23 | - | 1 |
3-10400445-T-C | c.2066A>G | p.N689S | Missense | 14/23 | - | 1 |
3-10400449-C-T | c.2062G>A | p.D688N | Missense | 14/23 | - | 1 |
3-10400450-C-T | c.2061G>A | p.W687* | Nonsense | 14/23 | - | 1 |
3-10400451-C-T | c.2060G>A | p.W687* | Nonsense | 14/23 | - | 2 |
3-10400453-G-T | c.2058C>A | p.D686E | Missense | 14/23 | - | 1 |
3-10400454-T-C | c.2057A>G | p.D686G | Missense | 14/23 | - | 1 |
3-10400455-C-A | c.2056G>T | p.D686Y | Missense | 14/23 | - | 1 |
3-10400455-C-T | c.2056G>A | p.D686N | Missense | 14/23 | - | 1 |
3-10400457-G-A | c.2054C>T | p.P685L | Missense | 14/23 | - | 4 |
3-10400458-G-A | c.2053C>T | p.P685S | Missense | 14/23 | - | 1 |
3-10400462-C-A | c.2049G>T | p.P683= | Synonymous | 14/23 | - | 1 |
3-10400462-C-G | c.2049G>C | p.P683= | Synonymous | 14/23 | - | 1 |
3-10400462-C-T | c.2049G>A | p.P683= | Synonymous | 14/23 | - | 1 |
3-10400463-G-A | c.2048C>T | p.P683L | Missense | 14/23 | - | 1 |
3-10400470-T-C | c.2041A>G | p.S681G | Missense | 14/23 | - | 1 |
3-10400473-G-A | c.2038C>T | p.P680S | Missense | 14/23 | - | 1 |
3-10400474-G-A | c.2037C>T | p.F679= | Synonymous | 14/23 | - | 2 |
3-10400479-C-T | c.2032G>A | p.D678N | Missense | 14/23 | - | 2 |
3-10400480-G-A | c.2031C>T | p.R677= | Synonymous | 14/23 | - | 2 |
3-10400480-G-C | c.2031C>G | p.R677= | Synonymous | 14/23 | - | 2 |
3-10400480-GC-TT | c.2030_2031delinsAA | p.R677Q | Missense | 14/23 | - | 1 |
3-10400480-G-T | c.2031C>A | p.R677= | Synonymous | 14/23 | - | 2 |
3-10400482-G-A | c.2029C>T | p.R677C | Missense | 14/23 | - | 1 |
3-10400482-G-T | c.2029C>A | p.R677S | Missense | 14/23 | - | 1 |
3-10400491-C-T | c.2020G>A | p.V674M | Missense | 14/23 | - | 2 |
3-10400492-G-A | c.2019C>T | p.C673= | Synonymous | 14/23 | - | 1 |
3-10400493-C-T | c.2018G>A | p.C673Y | Missense | 14/23 | - | 1 |
3-10400497-T-C | c.2014A>G | p.I672V | Missense | 14/23 | - | 1 |
3-10400499-G-A | c.2012C>T | p.T671I | Missense | 14/23 | - | 1 |
3-10400503-G-A | c.2008C>T | p.R670C | Missense | 14/23 | - | 1 |
3-10400512-C-G | c.1999G>C | p.D667H | Missense | 14/23 | - | 1 |
3-10400512-C-T | c.1999G>A | p.D667N | Missense | 14/23 | - | 1 |
3-10400513-G-T | c.1998C>A | p.C666* | Nonsense | 14/23 | - | 1 |
3-10400518-C-T | c.1993G>A | p.A665T | Missense | 14/23 | - | 2 |
3-10400519-C-G | c.1992G>C | p.M664I | Missense | 14/23 | - | 1 |
3-10400524-G-C | c.1987C>G | p.P663A | Missense | 14/23 | - | 1 |
3-10400527-C-T | c.1984G>A | p.E662K | Missense | 14/23 | - | 3 |
3-10400528-A-C | c.1983T>G | p.I661M | Missense | 14/23 | - | 2 |
3-10400529-A-T | c.1982T>A | p.I661N | Missense | 14/23 | - | 1 |
3-10400532-A-C | c.1979T>G | p.V660G | Missense | 14/23 | - | 1 |
3-10400532-A-G | c.1979T>C | p.V660A | Missense | 14/23 | - | 1 |
3-10400533-C-T | c.1978G>A | p.V660M | Missense | 14/23 | - | 1 |
3-10400540-TAC-CAT | c.1969_1971delinsATG | p.V657M | Missense | 14/23 | - | 1 |
3-10400541-A-G | c.1970T>C | p.V657A | Missense | 14/23 | - | 1 |
3-10400542-C-T | c.1969G>A | p.V657I | Missense | 14/23 | - | 1 |
3-10400546-C-T | c.1965G>A | p.E655= | Synonymous | 14/23 | - | 1 |
3-10400548-C-A | c.1963G>T | p.E655* | Nonsense | 14/23 | - | 1 |
3-10400548-C-T | c.1963G>A | p.E655K | Missense | 14/23 | - | 8 |
3-10400551-C-A | c.1960G>T | p.D654Y | Missense | 14/23 | - | 1 |
3-10400553-C-T | c.1958G>A | p.R653Q | Missense | 14/23 | - | 4 |
3-10400554-G-A | c.1957C>T | p.R653W | Missense | 14/23 | - | 3 |
3-10400557-C-T | c.1954G>A | p.D652N | Missense | 14/23 | - | 4 |
3-10400558-G-A | c.1953C>T | p.R651= | Synonymous | 14/23 | - | 1 |
3-10400558-G-C | c.1953C>G | p.R651= | Synonymous | 14/23 | - | 1 |
3-10400558-G-T | c.1953C>A | p.R651= | Synonymous | 14/23 | - | 1 |
3-10400559-C-T | c.1952G>A | p.R651H | Missense | 14/23 | - | 3 |
3-10400560-G-A | c.1951C>T | p.R651C | Missense | 14/23 | - | 1 |
3-10400560-G-T | c.1951C>A | p.R651S | Missense | 14/23 | - | 1 |
3-10400561-G-A | c.1950C>T | p.P650= | Synonymous | 14/23 | - | 1 |
3-10400562-G-A | c.1949C>T | p.P650L | Missense | 14/23 | - | 1 |
3-10400563-G-A | c.1948C>T | p.P650S | Missense | 14/23 | - | 2 |
3-10400565-C-T | c.1946G>A | p.R649Q | Missense | 14/23 | - | 7 |
3-10400564-C-A | c.1947G>T | p.R649= | Synonymous | 14/23 | - | 1 |
3-10400564-C-G | c.1947G>C | p.R649= | Synonymous | 14/23 | - | 1 |
3-10400564-C-T | c.1947G>A | p.R649= | Synonymous | 14/23 | - | 1 |
3-10400566-G-A | c.1945C>T | p.R649W | Missense | 14/23 | - | 2 |
3-10400566-G-C | c.1945C>G | p.R649G | Missense | 14/23 | - | 1 |
3-10400566-G-T | c.1945C>A | p.R649= | Synonymous | 14/23 | - | 1 |
3-10400569-A-T | c.1942T>A | p.F648I | Missense | 14/23 | - | 1 |
3-10400574-C-T | c.1937G>A | p.R646H | Missense | 14/23 | - | 1 |
3-10400575-G-A | c.1936C>T | p.R646C | Missense | 14/23 | - | 1 |
3-10400581-C-T | c.1930G>A | p.E644K | Missense | 14/23 | - | 1 |
3-10400585-C-T | c.1926G>A | p.A642= | Synonymous | 14/23 | - | 1 |
3-10400586-G-A | c.1925C>T | p.A642V | Missense | 14/23 | - | 2 |
3-10400586-G-T | c.1925C>A | p.A642E | Missense | 14/23 | - | 2 |
3-10400590-C-A | c.1921G>T | p.G641W | Missense | 14/23 | - | 1 |
3-10400590-C-T | c.1921G>A | p.G641R | Missense | 14/23 | - | 1 |
3-10400592-T-C | c.1919A>G | p.N640S | Missense | 14/23 | - | 3 |
3-10400593-T-C | c.1918A>G | p.N640D | Missense | 14/23 | - | 1 |
3-10400595-A-G | c.1916T>C | p.L639P | Missense | 14/23 | - | 1 |
3-10400596-G-A | c.1915C>T | p.L639F | Missense | 14/23 | - | 1 |
3-10400597-G-A | c.1914C>T | p.I638= | Synonymous | 14/23 | - | 2 |
3-10400599-T-C | c.1912A>G | p.I638V | Missense | 14/23 | - | 1 |
3-10400602-T-G | c.1909A>C | p.K637Q | Missense | 14/23 | - | 1 |
3-10400604-C-A | c.1907G>T | p.C636F | Missense | 14/23 | - | 1 |
3-10400608-A-C | c.1903T>G | p.C635G | Missense | 14/23 | - | 2 |
3-10400643-G-A | c.1902-34C>T | - | IntronicSNV | - | 13/22 | 9 |
3-10400643-G-C | c.1902-34C>G | - | IntronicSNV | - | 13/22 | 9 |
3-10401566-T-C | c.1901A>G | p.K634R | Missense | 13/23 | - | 1 |
3-10401568-C-A | c.1899G>T | p.K633N | Missense | 13/23 | - | 3 |
3-10401569-T-A | c.1898A>T | p.K633M | Missense | 13/23 | - | 1 |
3-10401576-C-A | c.1891G>T | p.V631L | Missense | 13/23 | - | 2 |
3-10401576-C-T | c.1891G>A | p.V631M | Missense | 13/23 | - | 8 |
3-10401577-G-A | c.1890C>T | p.I630= | Synonymous | 13/23 | - | 5 |
3-10401577-G-T | c.1890C>A | p.I630= | Synonymous | 13/23 | - | 3 |
3-10401578-A-G | c.1889T>C | p.I630T | Missense | 13/23 | - | 1 |
3-10401579-T-C | c.1888A>G | p.I630V | Missense | 13/23 | - | 1 |
3-10401580-C-A | c.1887G>T | p.E629D | Missense | 13/23 | - | 1 |
3-10401580-C-T | c.1887G>A | p.E629= | Synonymous | 13/23 | - | 1 |
3-10401582-C-T | c.1885G>A | p.E629K | Missense | 13/23 | - | 5 |
3-10401584-G-T | c.1883C>A | p.S628Y | Missense | 13/23 | - | 1 |
3-10401586-A-T | c.1881T>A | p.A627= | Synonymous | 13/23 | - | 3 |
3-10401589-C-T | c.1878G>A | p.G626= | Synonymous | 13/23 | - | 1 |
3-10401592-C-A | c.1875G>T | p.K625N | Missense | 13/23 | - | 1 |
3-10401592-C-G | c.1875G>C | p.K625N | Missense | 13/23 | - | 1 |
3-10401601-C-A | c.1866G>T | p.M622I | Missense | 13/23 | - | 1 |
3-10401601-C-G | c.1866G>C | p.M622I | Missense | 13/23 | - | 1 |
3-10401601-C-T | c.1866G>A | p.M622I | Missense | 13/23 | - | 1 |
3-10401605-C-G | c.1862G>C | p.R621P | Missense | 13/23 | - | 1 |
3-10401605-C-T | c.1862G>A | p.R621H | Missense | 13/23 | - | 1 |
3-10401606-G-A | c.1861C>T | p.R621C | Missense | 13/23 | - | 11 |
3-10401606-G-T | c.1861C>A | p.R621S | Missense | 13/23 | - | 2 |
3-10401610-G-A | c.1857C>T | p.S619= | Synonymous | 13/23 | - | 1 |
3-10401613-C-G | c.1854G>C | p.E618D | Missense | 13/23 | - | 1 |
3-10401613-C-T | c.1854G>A | p.E618= | Synonymous | 13/23 | - | 1 |
3-10401615-C-T | c.1852G>A | p.E618K | Missense | 13/23 | - | 4 |
3-10401618-C-A | c.1849G>T | p.D617Y | Missense | 13/23 | - | 1 |
3-10401618-C-T | c.1849G>A | p.D617N | Missense | 13/23 | - | 4 |
3-10401621-G-T | c.1846C>A | p.P616T | Missense | 13/23 | - | 1 |
3-10401622-CAG-AAA | c.1843_1845delinsTTT | p.L615F | Missense | 13/23 | - | 1 |
3-10401625-C-T | c.1842G>A | p.K614= | Synonymous | 13/23 | - | 1 |
3-10401636-T-A | c.1831A>T | p.T611S | Missense | 13/23 | - | 1 |
3-10401638-CT-AG | c.1828_1829inv | p.S610L | Missense | 13/23 | - | 1 |
3-10401644-G-A | c.1823C>T | p.S608F | Missense | 13/23 | - | 1 |
3-10401649-G-A | c.1818C>T | p.R606= | Synonymous | 13/23 | - | 1 |
3-10401650-C-T | c.1817G>A | p.R606H | Missense | 13/23 | - | 6 |
3-10401651-G-A | c.1816C>T | p.R606C | Missense | 13/23 | - | 9 |
3-10401654-C-T | c.1813G>A | p.V605M | Missense | 13/23 | - | 6 |
3-10401655-G-A | c.1812C>T | p.S604= | Synonymous | 13/23 | - | 2 |
3-10401656-G-A | c.1811C>T | p.S604F | Missense | 13/23 | - | 2 |
3-10401656-G-T | c.1811C>A | p.S604Y | Missense | 13/23 | - | 1 |
3-10401665-G-C | c.1802C>G | p.T601S | Missense | 13/23 | - | 1 |
3-10401666-T-A | c.1801A>T | p.T601S | Missense | 13/23 | - | 2 |
3-10401666-T-C | c.1801A>G | p.T601A | Missense | 13/23 | - | 2 |
3-10401666-T-G | c.1801A>C | p.T601P | Missense | 13/23 | - | 1 |
3-10401668-T-C | c.1799A>G | p.Y600C | Missense | 13/23 | - | 1 |
3-10401671-A-C | c.1796T>G | p.V599G | Missense | 13/23 | - | 1 |
3-10401675-T-A | c.1792A>T | p.K598* | Nonsense | 13/23 | - | 2 |
3-10401676-G-A | c.1791C>T | p.Y597= | Synonymous | 13/23 | - | 1 |
3-10401679-CA-C | c.1787del | p.L596Cfs*14 | Frameshift | 13/23 | - | 1 |
3-10401687-C-T | c.1780G>A | p.E594K | Missense | 13/23 | - | 1 |
3-10401691-TG-AT | c.1775_1776delinsAT | p.P592H | Missense | 13/23 | - | 1 |
3-10401692-G-A | c.1775C>T | p.P592L | Missense | 13/23 | - | 1 |
3-10401693-G-C | c.1774C>G | p.P592A | Missense | 13/23 | - | 1 |
3-10401702-T-A | c.1765A>T | p.S589C | Missense | 13/23 | - | 1 |
3-10401704-C-T | c.1763G>A | p.R588H | Missense | 13/23 | - | 2 |
3-10401705-G-A | c.1762C>T | p.R588C | Missense | 13/23 | - | 2 |
3-10401705-G-C | c.1762C>G | p.R588G | Missense | 13/23 | - | 1 |
3-10401708-C-A | c.1759G>T | p.V587L | Missense | 13/23 | - | 1 |
3-10401708-C-T | c.1759G>A | p.V587M | Missense | 13/23 | - | 2 |
3-10401710-G-A | c.1757C>T | p.P586L | Missense | 13/23 | - | 1 |
3-10401711-G-T | c.1756C>A | p.P586T | Missense | 13/23 | - | 1 |
3-10401714-C-T | c.1753G>A | p.E585K | Missense | 13/23 | - | 3 |
3-10401720-C-A | c.1747G>T | p.D583Y | Missense | 13/23 | - | 1 |
3-10401723-G-A | c.1744C>T | p.Q582* | Nonsense | 13/23 | - | 1 |
3-10401723-G-T | c.1744C>A | p.Q582K | Missense | 13/23 | - | 2 |
3-10401724-C-T | c.1743G>A | p.K581= | Synonymous | 13/23 | - | 1 |
3-10401729-G-T | c.1738C>A | p.L580M | Missense | 13/23 | - | 2 |
3-10401732-C-A | c.1735G>T | p.D579Y | Missense | 13/23 | - | 1 |
3-10401732-C-T | c.1735G>A | p.D579N | Missense | 13/23 | - | 3 |
3-10401738-C-T | c.1729G>A | p.V577M | Missense | 13/23 | - | 1 |
3-10401739-G-A | c.1728C>T | p.F576= | Synonymous | 13/23 | - | 5 |
3-10401741-A-T | c.1726T>A | p.F576I | Missense | 13/23 | - | 2 |
3-10401742-G-A | c.1725C>T | p.G575= | Synonymous | 13/23 | - | 1 |
3-10401745-C-T | c.1722G>A | p.L574= | Synonymous | 13/23 | - | 1 |
3-10401750-G-A | c.1717C>T | p.L573= | Synonymous | 13/23 | - | 1 |
3-10401753-C-A | c.1714G>T | p.G572C | Missense | 13/23 | - | 1 |
3-10401753-C-T | c.1714G>A | p.G572S | Missense | 13/23 | - | 2 |
3-10401757-C-A | c.1710G>T | p.E570D | Missense | 13/23 | - | 2 |
3-10401757-C-G | c.1710G>C | p.E570D | Missense | 13/23 | - | 3 |
3-10401759-C-T | c.1708G>A | p.E570K | Missense | 13/23 | - | 1 |
3-10401760-C-T | c.1707G>A | p.T569= | Synonymous | 13/23 | - | 2 |
3-10401761-G-A | c.1706C>T | p.T569M | Missense | 13/23 | - | 2 |
3-10401764-T-C | c.1703A>G | p.K568R | Missense | 13/23 | - | 1 |
3-10401767-T-C | c.1700A>G | p.N567S | Missense | 13/23 | - | 1 |
3-10401770-C-A | c.1697G>T | p.G566V | Missense | 13/23 | - | 1 |
3-10401772-CAC-GAT | c.1693_1695delinsATC | p.V565I | Missense | 13/23 | - | 1 |
3-10401773-A-C | c.1694T>G | p.V565G | Missense | 13/23 | - | 3 |
3-10401777-G-A | c.1690C>T | p.Q564* | Nonsense | 13/23 | - | 1 |
3-10401777-G-C | c.1690C>G | p.Q564E | Missense | 13/23 | - | 1 |
3-10401780-G-A | c.1687C>T | p.R563W | Missense | 13/23 | - | 1 |
3-10401783-G-T | c.1684C>A | p.P562T | Missense | 13/23 | - | 1 |
3-10401786-G-A | c.1681C>T | p.L561= | Synonymous | 13/23 | - | 1 |
3-10401786-G-T | c.1681C>A | p.L561M | Missense | 13/23 | - | 1 |
3-10401785-AG-A | c.1681del | p.L561Cfs*20 | Frameshift | 13/23 | - | 1 |
3-10401789-C-T | c.1678G>A | p.A560T | Missense | 13/23 | - | 5 |
3-10401790-G-A | c.1677C>T | p.G559= | Synonymous | 13/23 | - | 7 |
3-10401790-G-C | c.1677C>G | p.G559= | Synonymous | 13/23 | - | 7 |
3-10401790-G-T | c.1677C>A | p.G559= | Synonymous | 13/23 | - | 5 |
3-10401791-C-T | c.1676G>A | p.G559D | Missense | 13/23 | - | 1 |
3-10401792-C-A | c.1675G>T | p.G559C | Missense | 13/23 | - | 2 |
3-10401792-C-T | c.1675G>A | p.G559S | Missense | 13/23 | - | 1 |
3-10401795-C-T | c.1672G>A | p.E558K | Missense | 13/23 | - | 3 |
3-10401797-T-C | c.1670A>G | p.K557R | Missense | 13/23 | - | 1 |
3-10401799-C-T | c.1668G>A | p.E556= | Synonymous | 13/23 | - | 1 |
3-10401803-G-A | c.1664C>T | p.P555L | Missense | 13/23 | - | 1 |
3-10401805-G-A | c.1662C>T | p.P554= | Synonymous | 13/23 | - | 2 |
3-10401805-G-C | c.1662C>G | p.P554= | Synonymous | 13/23 | - | 2 |
3-10401805-G-T | c.1662C>A | p.P554= | Synonymous | 13/23 | - | 2 |
3-10401806-G-A | c.1661C>T | p.P554L | Missense | 13/23 | - | 1 |
3-10401807-G-A | c.1660C>T | p.P554S | Missense | 13/23 | - | 2 |
3-10401807-G-T | c.1660C>A | p.P554T | Missense | 13/23 | - | 4 |
3-10401856-G-T | c.1660-49C>A | - | IntronicSNV | - | 12/22 | 8 |
3-10401953-T-C | c.1660-146A>G | - | IntronicSNV | - | 12/22 | 1 |
3-10402103-G-A | c.1660-296C>T | - | IntronicSNV | - | 12/22 | 4 |
3-10409597-C-T | c.1659+3896G>A | - | IntronicSNV | - | 12/22 | 1 |
3-10411827-G-A | c.1659+1666C>T | - | IntronicSNV | - | 12/22 | 1 |
3-10411827-G-C | c.1659+1666C>G | - | IntronicSNV | - | 12/22 | 1 |
3-10413341-C-G | c.1659+152G>C | - | IntronicSNV | - | 12/22 | 1 |
3-10413391-C-T | c.1659+102G>A | - | IntronicSNV | - | 12/22 | 1 |
3-10413481-G-C | c.1659+12C>G | - | IntronicSNV | - | 12/22 | 1 |
3-10413494-A-G | c.1658T>C | p.L553P | Missense | 12/23 | - | 1 |
3-10413499-C-A | c.1653G>T | p.K551N | Missense | 12/23 | - | 2 |
3-10413499-C-G | c.1653G>C | p.K551N | Missense | 12/23 | - | 2 |
3-10413497-ATCTTGGTGGTGTAGGCGCTGTTGATGGCGATGGCATTGATCAGCAGCTCCATGG-A | c.1601_1654del | p.T534_K551del | InFrameDeletion | 12/23 | - | 1 |
3-10413508-G-A | c.1644C>T | p.Y548= | Synonymous | 12/23 | - | 1 |
3-10413509-T-C | c.1643A>G | p.Y548C | Missense | 12/23 | - | 1 |
3-10413514-G-A | c.1638C>T | p.S546= | Synonymous | 12/23 | - | 3 |
3-10413520-G-A | c.1632C>T | p.I544= | Synonymous | 12/23 | - | 1 |
3-10413520-G-T | c.1632C>A | p.I544= | Synonymous | 12/23 | - | 1 |
3-10413521-A-G | c.1631T>C | p.I544T | Missense | 12/23 | - | 1 |
3-10413525-C-A | c.1627G>T | p.A543S | Missense | 12/23 | - | 1 |
3-10413525-C-T | c.1627G>A | p.A543T | Missense | 12/23 | - | 2 |
3-10413526-G-A | c.1626C>T | p.I542= | Synonymous | 12/23 | - | 7 |
3-10413526-G-T | c.1626C>A | p.I542= | Synonymous | 12/23 | - | 2 |
3-10413528-T-C | c.1624A>G | p.I542V | Missense | 12/23 | - | 1 |
3-10413530-G-A | c.1622C>T | p.A541V | Missense | 12/23 | - | 1 |
3-10413533-T-C | c.1619A>G | p.N540S | Missense | 12/23 | - | 1 |
3-10413534-T-C | c.1618A>G | p.N540D | Missense | 12/23 | - | 1 |
3-10413537-T-C | c.1615A>G | p.I539V | Missense | 12/23 | - | 1 |
3-10413543-G-T | c.1609C>A | p.L537M | Missense | 12/23 | - | 1 |
3-10413544-C-A | c.1608G>T | p.E536D | Missense | 12/23 | - | 1 |
3-10413544-C-T | c.1608G>A | p.E536= | Synonymous | 12/23 | - | 1 |
3-10413549-T-C | c.1603A>G | p.M535V | Missense | 12/23 | - | 1 |
3-10413550-G-T | c.1602C>A | p.T534= | Synonymous | 12/23 | - | 1 |
3-10413557-G-C | c.1595C>G | p.T532S | Missense | 12/23 | - | 1 |
3-10413559-G-A | c.1593C>T | p.N531= | Synonymous | 12/23 | - | 1 |
3-10413561-T-C | c.1591A>G | p.N531D | Missense | 12/23 | - | 1 |
3-10413562-G-T | c.1590C>A | p.I530= | Synonymous | 12/23 | - | 1 |
3-10413564-T-C | c.1588A>G | p.I530V | Missense | 12/23 | - | 1 |
3-10413569-C-G | c.1583G>C | p.S528T | Missense | 12/23 | - | 2 |
3-10413573-G-T | c.1579C>A | p.P527T | Missense | 12/23 | - | 1 |
3-10413576-C-G | c.1576G>C | p.D526H | Missense | 12/23 | - | 1 |
3-10413576-C-T | c.1576G>A | p.D526N | Missense | 12/23 | - | 2 |
3-10413578-G-A | c.1574C>T | p.P525L | Missense | 12/23 | - | 2 |
3-10413580-G-A | c.1572C>T | p.I524= | Synonymous | 12/23 | - | 2 |
3-10413580-G-C | c.1572C>G | p.I524M | Missense | 12/23 | - | 1 |
3-10413580-G-T | c.1572C>A | p.I524= | Synonymous | 12/23 | - | 1 |
3-10413582-T-C | c.1570A>G | p.I524V | Missense | 12/23 | - | 1 |
3-10413584-T-C | c.1568A>G | p.E523G | Missense | 12/23 | - | 1 |
3-10413585-C-A | c.1567G>T | p.E523* | Nonsense | 12/23 | - | 1 |
3-10413585-C-T | c.1567G>A | p.E523K | Missense | 12/23 | - | 6 |
3-10413588-T-G | c.1564A>C | p.K522Q | Missense | 12/23 | - | 1 |
3-10413593-T-A | c.1559A>T | p.H520L | Missense | 12/23 | - | 1 |
3-10413593-T-C | c.1559A>G | p.H520R | Missense | 12/23 | - | 1 |
3-10413594-G-A | c.1558C>T | p.H520Y | Missense | 12/23 | - | 1 |
3-10413595-G-T | c.1557C>A | p.V519= | Synonymous | 12/23 | - | 1 |
3-10413597-C-T | c.1555G>A | p.V519I | Missense | 12/23 | - | 9 |
3-10413600-C-T | c.1552G>A | p.D518N | Missense | 12/23 | - | 3 |
3-10413601-G-A | c.1551C>T | p.G517= | Synonymous | 12/23 | - | 19 |
3-10413601-G-C | c.1551C>G | p.G517= | Synonymous | 12/23 | - | 3 |
3-10413601-G-T | c.1551C>A | p.G517= | Synonymous | 12/23 | - | 3 |
3-10413603-C-T | c.1549G>A | p.G517S | Missense | 12/23 | - | 1 |
3-10413605-A-G | c.1547T>C | p.V516A | Missense | 12/23 | - | 1 |
3-10413608-T-A | c.1544A>T | p.Y515F | Missense | 12/23 | - | 1 |
3-10413608-T-C | c.1544A>G | p.Y515C | Missense | 12/23 | - | 1 |
3-10413610-G-A | c.1542C>T | p.A514= | Synonymous | 12/23 | - | 1 |
3-10413610-G-C | c.1542C>G | p.A514= | Synonymous | 12/23 | - | 1 |
3-10413611-G-T | c.1541C>A | p.A514D | Missense | 12/23 | - | 2 |
3-10413612-C-A | c.1540G>T | p.A514S | Missense | 12/23 | - | 3 |
3-10413612-C-T | c.1540G>A | p.A514T | Missense | 12/23 | - | 2 |
3-10413613-C-T | c.1539G>A | p.Q513= | Synonymous | 12/23 | - | 1 |
3-10413614-T-G | c.1538A>C | p.Q513P | Missense | 12/23 | - | 2 |
3-10413617-A-G | c.1535T>C | p.V512A | Missense | 12/23 | - | 1 |
3-10413618-C-T | c.1534G>A | p.V512I | Missense | 12/23 | - | 1 |
3-10413629-C-T | c.1523G>A | p.R508H | Missense | 12/23 | - | 1 |
3-10413630-G-A | c.1522C>T | p.R508C | Missense | 12/23 | - | 4 |
3-10413634-G-A | c.1518C>T | p.T506= | Synonymous | 12/23 | - | 2 |
3-10413634-G-C | c.1518C>G | p.T506= | Synonymous | 12/23 | - | 2 |
3-10413634-G-T | c.1518C>A | p.T506= | Synonymous | 12/23 | - | 2 |
3-10413637-G-C | c.1515C>G | p.T505= | Synonymous | 12/23 | - | 1 |
3-10413640-C-A | c.1512G>T | p.L504= | Synonymous | 12/23 | - | 1 |
3-10413640-C-G | c.1512G>C | p.L504= | Synonymous | 12/23 | - | 1 |
3-10413640-C-T | c.1512G>A | p.L504= | Synonymous | 12/23 | - | 1 |
3-10413642-G-A | c.1510C>T | p.L504= | Synonymous | 12/23 | - | 1 |
3-10413644-G-A | c.1508C>T | p.T503M | Missense | 12/23 | - | 4 |
3-10413646-G-A | c.1506C>T | p.G502= | Synonymous | 12/23 | - | 1 |
3-10413646-G-C | c.1506C>G | p.G502= | Synonymous | 12/23 | - | 1 |
3-10413646-G-T | c.1506C>A | p.G502= | Synonymous | 12/23 | - | 1 |
3-10413652-C-A | c.1500G>T | p.K500N | Missense | 12/23 | - | 1 |
3-10413652-C-G | c.1500G>C | p.K500N | Missense | 12/23 | - | 1 |
3-10413655-G-T | c.1497C>A | p.D499E | Missense | 12/23 | - | 2 |
3-10413658-TG-AT | c.1493_1494delinsAT | p.S498Y | Missense | 12/23 | - | 1 |
3-10413659-G-A | c.1493C>T | p.S498L | Missense | 12/23 | - | 1 |
3-10413659-G-C | c.1493C>G | p.S498* | Nonsense | 12/23 | - | 1 |
3-10413661-G-A | c.1491C>T | p.C497= | Synonymous | 12/23 | - | 3 |
3-10413662-C-T | c.1490G>A | p.C497Y | Missense | 12/23 | - | 1 |
3-10413662-C-G | c.1490G>C | p.C497S | Missense | 12/23 | - | 2 |
3-10413663-A-T | c.1489T>A | p.C497S | Missense | 12/23 | - | 3 |
3-10413666-T-C | c.1486A>G | p.I496V | Missense | 12/23 | - | 1 |
3-10413668-G-A | c.1484C>T | p.A495V | Missense | 12/23 | - | 3 |
3-10413674-G-A | c.1478C>T | p.A493V | Missense | 12/23 | - | 1 |
3-10413681-C-A | c.1471G>T | p.G491C | Missense | 12/23 | - | 3 |
3-10413682-CAT-ACA | c.1468_1470delinsTGT | p.M490C | Missense | 12/23 | - | 1 |
3-10413682-CAT-GTC | c.1468_1470delinsGAC | p.M490D | Missense | 12/23 | - | 1 |
3-10413682-C-T | c.1470G>A | p.M490I | Missense | 12/23 | - | 1 |
3-10413683-AT-CC | c.1468_1469delinsGG | p.M490G | Missense | 12/23 | - | 1 |
3-10413683-AT-GG | c.1468_1469delinsCC | p.M490P | Missense | 12/23 | - | 1 |
3-10413684-T-A | c.1468A>T | p.M490L | Missense | 12/23 | - | 1 |
3-10413684-T-G | c.1468A>C | p.M490L | Missense | 12/23 | - | 1 |
3-10413688-C-A | c.1464G>T | p.E488D | Missense | 12/23 | - | 1 |
3-10413690-C-G | c.1462G>C | p.E488Q | Missense | 12/23 | - | 2 |
3-10413695-G-A | c.1457C>T | p.A486V | Missense | 12/23 | - | 2 |
3-10413696-C-T | c.1456G>A | p.A486T | Missense | 12/23 | - | 1 |
3-10413704-T-A | c.1448A>T | p.H483L | Missense | 12/23 | - | 1 |
3-10413706-GC-TT | c.1445_1446delinsAA | p.R482Q | Missense | 12/23 | - | 1 |
3-10413707-C-T | c.1445G>A | p.R482H | Missense | 12/23 | - | 3 |
3-10413708-G-A | c.1444C>T | p.R482C | Missense | 12/23 | - | 4 |
3-10413709-T-A | c.1443A>T | p.V481= | Synonymous | 12/23 | - | 1 |
3-10413709-T-C | c.1443A>G | p.V481= | Synonymous | 12/23 | - | 1 |
3-10413709-T-G | c.1443A>C | p.V481= | Synonymous | 12/23 | - | 1 |
3-10413714-G-A | c.1438C>T | p.L480= | Synonymous | 12/23 | - | 2 |
3-10413715-G-A | c.1437C>T | p.N479= | Synonymous | 12/23 | - | 24 |
3-10413716-T-G | c.1436A>C | p.N479T | Missense | 12/23 | - | 1 |
3-10413723-C-T | c.1429G>A | p.D477N | Missense | 12/23 | - | 1 |
3-10413724-C-G | c.1428G>C | p.K476N | Missense | 12/23 | - | 1 |
3-10413724-C-T | c.1428G>A | p.K476= | Synonymous | 12/23 | - | 3 |
3-10413725-T-C | c.1427A>G | p.K476R | Missense | 12/23 | - | 1 |
3-10413730-C-A | c.1422G>T | p.M474I | Missense | 12/23 | - | 2 |
3-10413730-C-G | c.1422G>C | p.M474I | Missense | 12/23 | - | 2 |
3-10413730-C-T | c.1422G>A | p.M474I | Missense | 12/23 | - | 2 |
3-10413731-A-AT | c.1420dup | p.M474Nfs*15 | Frameshift | - | - | 2 |
3-10413735-T-C | c.1417A>G | p.K473E | Missense | 12/23 | - | 1 |
3-10413921-G-A | c.1417-186C>T | - | IntronicSNV | - | 11/22 | 1 |
3-10413921-G-T | c.1417-186C>A | - | IntronicSNV | - | 11/22 | 1 |
3-10414909-G-A | c.1417-1174C>T | - | IntronicSNV | - | 11/22 | 1 |
3-10415343-C-A | c.1417-1608G>T | - | IntronicSNV | - | 11/22 | 2 |
3-10415343-C-T | c.1417-1608G>A | - | IntronicSNV | - | 11/22 | 2 |
3-10417120-C-G | c.1410G>C | p.S470= | Synonymous | 11/23 | - | 1 |
3-10417120-C-T | c.1410G>A | p.S470= | Synonymous | 11/23 | - | 1 |
3-10417121-G-A | c.1409C>T | p.S470L | Missense | 11/23 | - | 8 |
3-10417128-C-T | c.1402G>A | p.A468T | Missense | 11/23 | - | 1 |
3-10417132-C-A | c.1398G>T | p.S466= | Synonymous | 11/23 | - | 1 |
3-10417133-G-A | c.1397C>T | p.S466L | Missense | 11/23 | - | 7 |
3-10417136-A-G | c.1394T>C | p.I465T | Missense | 11/23 | - | 3 |
3-10417138-GG-CA | c.1391_1392delinsTG | p.T464M | Missense | 11/23 | - | 1 |
3-10417142-A-G | c.1388T>C | p.V463A | Missense | 11/23 | - | 2 |
3-10417143-C-T | c.1387G>A | p.V463I | Missense | 11/23 | - | 4 |
3-10417146-C-A | c.1384G>T | p.A462S | Missense | 11/23 | - | 1 |
3-10417151-G-A | c.1379C>T | p.P460L | Missense | 11/23 | - | 1 |
3-10417153-G-A | c.1377C>T | p.L459= | Synonymous | 11/23 | - | 1 |
3-10417156-CCC-ACA | c.1372_1374delinsTGT | p.G458C | Missense | 11/23 | - | 1 |
3-10417157-C-T | c.1373G>A | p.G458E | Missense | 11/23 | - | 4 |
3-10417161-C-G | c.1369G>C | p.E457Q | Missense | 11/23 | - | 3 |
3-10417161-C-T | c.1369G>A | p.E457K | Missense | 11/23 | - | 6 |
3-10417162-G-A | c.1368C>T | p.P456= | Synonymous | 11/23 | - | 1 |
3-10417168-G-A | c.1362C>T | p.A454= | Synonymous | 11/23 | - | 2 |
3-10417168-G-C | c.1362C>G | p.A454= | Synonymous | 11/23 | - | 2 |
3-10417168-G-T | c.1362C>A | p.A454= | Synonymous | 11/23 | - | 2 |
3-10417170-C-T | c.1360G>A | p.A454T | Missense | 11/23 | - | 1 |
3-10417174-CAC-GAT | c.1354_1356delinsATC | p.V452I | Missense | 11/23 | - | 1 |
3-10417175-A-G | c.1355T>C | p.V452A | Missense | 11/23 | - | 2 |
3-10417176-C-T | c.1354G>A | p.V452M | Missense | 11/23 | - | 3 |
3-10417182-C-T | c.1348G>A | p.V450M | Missense | 11/23 | - | 2 |
3-10417183-C-T | c.1347G>A | p.T449= | Synonymous | 11/23 | - | 2 |
3-10417184-G-A | c.1346C>T | p.T449M | Missense | 11/23 | - | 1 |
3-10417187-A-G | c.1343T>C | p.V448A | Missense | 11/23 | - | 1 |
3-10417188-C-T | c.1342G>A | p.V448M | Missense | 11/23 | - | 3 |
3-10417193-A-G | c.1337T>C | p.I446T | Missense | 11/23 | - | 1 |
3-10417194-T-C | c.1336A>G | p.I446V | Missense | 11/23 | - | 4 |
3-10417198-G-C | c.1332C>G | p.F444L | Missense | 11/23 | - | 1 |
3-10417198-G-T | c.1332C>A | p.F444L | Missense | 11/23 | - | 2 |
3-10417200-A-G | c.1330T>C | p.F444L | Missense | 11/23 | - | 1 |
3-10417197-TGAA-T | c.1330_1332del | p.F444del | InFrameDeletion | 11/23 | - | 1 |
3-10417201-G-A | c.1329C>T | p.F443= | Synonymous | 11/23 | - | 1 |
3-10417206-T-C | c.1324A>G | p.K442E | Missense | 11/23 | - | 1 |
3-10417212-A-G | c.1318T>C | p.F440L | Missense | 11/23 | - | 1 |
3-10417214-T-A | c.1316A>T | p.Y439F | Missense | 11/23 | - | 1 |
3-10417214-T-C | c.1316A>G | p.Y439C | Missense | 11/23 | - | 1 |
3-10417217-TGCAC-T | c.1309_1312del | p.V437Sfs*11 | Frameshift | 11/23 | - | 1 |
3-10417221-C-T | c.1309G>A | p.V437M | Missense | 11/23 | - | 3 |
3-10417222-G-A | c.1308C>T | p.Y436= | Synonymous | 11/23 | - | 3 |
3-10417224-TA-T | c.1306del | p.Y436Tfs*13 | Frameshift | 11/23 | - | 1 |
3-10417227-AC-A | c.1303del | p.V435Sfs*14 | Frameshift | 11/23 | - | 2 |
3-10417227-C-T | c.1303G>A | p.V435I | Missense | 11/23 | - | 1 |
3-10417228-G-A | c.1302C>T | p.P434= | Synonymous | 11/23 | - | 5 |
3-10417228-G-C | c.1302C>G | p.P434= | Synonymous | 11/23 | - | 2 |
3-10417228-G-T | c.1302C>A | p.P434= | Synonymous | 11/23 | - | 2 |
3-10417226-ACGGG-A | c.1300_1303del | p.P434Sfs*14 | Frameshift | 11/23 | - | 1 |
3-10417227-CG-C | c.1302del | p.V435Sfs*14 | Frameshift | 11/23 | - | 2 |
3-10417230-G-A | c.1300C>T | p.P434S | Missense | 11/23 | - | 1 |
3-10417231-C-A | c.1299G>T | p.T433= | Synonymous | 11/23 | - | 2 |
3-10417231-C-G | c.1299G>C | p.T433= | Synonymous | 11/23 | - | 1 |
3-10417231-C-T | c.1299G>A | p.T433= | Synonymous | 11/23 | - | 2 |
3-10417232-G-A | c.1298C>T | p.T433M | Missense | 11/23 | - | 4 |
3-10417234-TGC-T | c.1295_1296del | p.C432Yfs*56 | Frameshift | 11/23 | - | 1 |
3-10417235-C-G | c.1295G>C | p.C432S | Missense | 11/23 | - | 1 |
3-10417235-C-T | c.1295G>A | p.C432Y | Missense | 11/23 | - | 2 |
3-10417240-CAGG-C | c.1288_1290del | p.P430del | InFrameDeletion | 11/23 | - | 1 |
3-10417243-C-A | c.1287G>T | p.L429= | Synonymous | 11/23 | - | 1 |
3-10417243-C-G | c.1287G>C | p.L429= | Synonymous | 11/23 | - | 1 |
3-10417243-C-T | c.1287G>A | p.L429= | Synonymous | 11/23 | - | 1 |
3-10417245-G-A | c.1285C>T | p.L429= | Synonymous | 11/23 | - | 1 |
3-10417244-AG-GT | c.1285_1286delinsAC | p.L429T | Missense | 11/23 | - | 1 |
3-10417249-C-A | c.1281G>T | p.P427= | Synonymous | 11/23 | - | 1 |
3-10417249-C-G | c.1281G>C | p.P427= | Synonymous | 11/23 | - | 1 |
3-10417249-C-T | c.1281G>A | p.P427= | Synonymous | 11/23 | - | 1 |
3-10417250-G-A | c.1280C>T | p.P427L | Missense | 11/23 | - | 1 |
3-10417250-G-T | c.1280C>A | p.P427Q | Missense | 11/23 | - | 1 |
3-10417251-G-A | c.1279C>T | p.P427S | Missense | 11/23 | - | 1 |
3-10417252-C-A | c.1278G>T | p.K426N | Missense | 11/23 | - | 1 |
3-10417252-C-G | c.1278G>C | p.K426N | Missense | 11/23 | - | 1 |
3-10417255-C-T | c.1275G>A | p.K425= | Synonymous | 11/23 | - | 1 |
3-10417263-C-G | c.1267G>C | p.V423L | Missense | 11/23 | - | 1 |
3-10417265-A-C | c.1265T>G | p.V422G | Missense | 11/23 | - | 1 |
3-10417266-C-T | c.1264G>A | p.V422M | Missense | 11/23 | - | 2 |
3-10417271-G-T | c.1259C>A | p.T420N | Missense | 11/23 | - | 1 |
3-10417272-T-A | c.1258A>T | p.T420S | Missense | 11/23 | - | 1 |
3-10417274-T-C | c.1256A>G | p.D419G | Missense | 11/23 | - | 1 |
3-10417275-C-T | c.1255G>A | p.D419N | Missense | 11/23 | - | 2 |
3-10417286-T-A | c.1244A>T | p.Y415F | Missense | 11/23 | - | 1 |
3-10417286-T-G | c.1244A>C | p.Y415S | Missense | 11/23 | - | 2 |
3-10417296-G-A | c.1234C>T | p.L412= | Synonymous | 11/23 | - | 1 |
3-10417302-T-C | c.1228A>G | p.I410V | Missense | 11/23 | - | 1 |
3-10417305-C-A | c.1225G>T | p.V409L | Missense | 11/23 | - | 1 |
3-10417305-C-G | c.1225G>C | p.V409L | Missense | 11/23 | - | 1 |
3-10417305-C-T | c.1225G>A | p.V409M | Missense | 11/23 | - | 3 |
3-10417306-C-A | c.1224G>T | p.T408= | Synonymous | 11/23 | - | 2 |
3-10417306-C-G | c.1224G>C | p.T408= | Synonymous | 11/23 | - | 2 |
3-10417306-C-T | c.1224G>A | p.T408= | Synonymous | 11/23 | - | 2 |
3-10417307-G-A | c.1223C>T | p.T408M | Missense | 11/23 | - | 2 |
3-10417311-T-G | c.1219A>C | p.I407L | Missense | 11/23 | - | 1 |
3-10417314-C-T | c.1216G>A | p.A406T | Missense | 11/23 | - | 1 |
3-10417315-T-A | c.1215A>T | p.S405= | Synonymous | 11/23 | - | 1 |
3-10417315-T-C | c.1215A>G | p.S405= | Synonymous | 11/23 | - | 1 |
3-10417315-T-G | c.1215A>C | p.S405= | Synonymous | 11/23 | - | 1 |
3-10417316-G-A | c.1214C>T | p.S405L | Missense | 11/23 | - | 2 |
3-10417318-C-T | c.1212G>A | p.M404I | Missense | 11/23 | - | 1 |
3-10417322-A-G | c.1208T>C | p.V403A | Missense | 11/23 | - | 1 |
3-10417323-C-T | c.1207G>A | p.V403M | Missense | 11/23 | - | 3 |
3-10417324-CA-C | c.1205del | p.L402Wfs*2 | Frameshift | 11/23 | - | 1 |
3-10417415-C-T | c.1202-87G>A | - | IntronicSNV | - | 10/22 | 1 |
3-10419735-C-G | c.1201+201G>C | - | IntronicSNV | - | 10/22 | 1 |
3-10419856-C-G | c.1201+80G>C | - | IntronicSNV | - | 10/22 | 4 |
3-10419856-C-T | c.1201+80G>A | - | IntronicSNV | - | 10/22 | 2 |
3-10419871-G-A | c.1201+65C>T | - | IntronicSNV | - | 10/22 | 1 |
3-10419871-G-C | c.1201+65C>G | - | IntronicSNV | - | 10/22 | 1 |
3-10419937-C-G | c.1200G>C | p.A400= | Synonymous | 10/23 | - | 1 |
3-10419938-G-A | c.1199C>T | p.A400V | Missense | 10/23 | - | 1 |
3-10419938-G-T | c.1199C>A | p.A400E | Missense | 10/23 | - | 1 |
3-10419939-CCTT-C | c.1195_1197del | p.K399del | InFrameDeletion | 10/23 | - | 1 |
3-10419946-G-A | c.1191C>T | p.I397= | Synonymous | 10/23 | - | 1 |
3-10419946-G-T | c.1191C>A | p.I397= | Synonymous | 10/23 | - | 1 |
3-10419951-G-A | c.1186C>T | p.Q396* | Nonsense | 10/23 | - | 1 |
3-10419954-C-A | c.1183G>T | p.V395L | Missense | 10/23 | - | 1 |
3-10419954-C-G | c.1183G>C | p.V395L | Missense | 10/23 | - | 1 |
3-10419958-C-A | c.1179G>T | p.L393= | Synonymous | 10/23 | - | 1 |
3-10419958-C-G | c.1179G>C | p.L393= | Synonymous | 10/23 | - | 1 |
3-10419958-C-T | c.1179G>A | p.L393= | Synonymous | 10/23 | - | 1 |
3-10419960-G-A | c.1177C>T | p.L393= | Synonymous | 10/23 | - | 2 |
3-10419964-G-A | c.1173C>T | p.T391= | Synonymous | 10/23 | - | 1 |
3-10419974-C-T | c.1163G>A | p.G388D | Missense | 10/23 | - | 1 |
3-10419981-G-T | c.1156C>A | p.L386M | Missense | 10/23 | - | 2 |
3-10419982-CA-GT | c.1154_1155delinsAC | p.V385D | Missense | 10/23 | - | 1 |
3-10419984-C-A | c.1153G>T | p.V385L | Missense | 10/23 | - | 1 |
3-10419984-C-T | c.1153G>A | p.V385M | Missense | 10/23 | - | 3 |
3-10419989-T-A | c.1148A>T | p.K383M | Missense | 10/23 | - | 2 |
3-10419989-T-C | c.1148A>G | p.K383R | Missense | 10/23 | - | 1 |
3-10419991-C-T | c.1146G>A | p.E382= | Synonymous | 10/23 | - | 1 |
3-10419990-TCTC-T | c.1144_1146del | p.E382del | InFrameDeletion | 10/23 | - | 2 |
3-10419993-C-T | c.1144G>A | p.E382K | Missense | 10/23 | - | 1 |
3-10419994-C-T | c.1143G>A | p.K381= | Synonymous | 10/23 | - | 1 |
3-10419998-T-C | c.1139A>G | p.K380R | Missense | 10/23 | - | 1 |
3-10420003-C-T | c.1134G>A | p.M378I | Missense | 10/23 | - | 1 |
3-10420007-C-T | c.1130G>A | p.S377N | Missense | 10/23 | - | 1 |
3-10420009-G-A | c.1128C>T | p.A376= | Synonymous | 10/23 | - | 1 |
3-10420010-G-A | c.1127C>T | p.A376V | Missense | 10/23 | - | 1 |
3-10420010-G-T | c.1127C>A | p.A376D | Missense | 10/23 | - | 1 |
3-10420011-C-T | c.1126G>A | p.A376T | Missense | 10/23 | - | 2 |
3-10420012-C-G | c.1125G>C | p.K375N | Missense | 10/23 | - | 1 |
3-10420018-C-T | c.1119G>A | p.R373= | Synonymous | 10/23 | - | 2 |
3-10420023-C-T | c.1114G>A | p.D372N | Missense | 10/23 | - | 1 |
3-10420025-T-G | c.1112A>C | p.D371A | Missense | 10/23 | - | 3 |
3-10420026-C-T | c.1111G>A | p.D371N | Missense | 10/23 | - | 1 |
3-10420028-G-A | c.1109C>T | p.A370V | Missense | 10/23 | - | 1 |
3-10420028-G-T | c.1109C>A | p.A370D | Missense | 10/23 | - | 1 |
3-10420029-C-T | c.1108G>A | p.A370T | Missense | 10/23 | - | 1 |
3-10420030-G-C | c.1107C>G | p.D369E | Missense | 10/23 | - | 3 |
3-10420030-G-T | c.1107C>A | p.D369E | Missense | 10/23 | - | 3 |
3-10420032-C-T | c.1105G>A | p.D369N | Missense | 10/23 | - | 4 |
3-10420033-G-A | c.1104C>T | p.G368= | Synonymous | 10/23 | - | 2 |
3-10420033-G-C | c.1104C>G | p.G368= | Synonymous | 10/23 | - | 2 |
3-10420033-G-T | c.1104C>A | p.G368= | Synonymous | 10/23 | - | 2 |
3-10420034-C-A | c.1103G>T | p.G368V | Missense | 10/23 | - | 1 |
3-10420034-C-T | c.1103G>A | p.G368D | Missense | 10/23 | - | 1 |
3-10420035-C-T | c.1102G>A | p.G368S | Missense | 10/23 | - | 1 |
3-10420036-G-A | c.1101C>T | p.G367= | Synonymous | 10/23 | - | 2 |
3-10420036-G-C | c.1101C>G | p.G367= | Synonymous | 10/23 | - | 2 |
3-10420036-G-T | c.1101C>A | p.G367= | Synonymous | 10/23 | - | 2 |
3-10420040-T-A | c.1097A>T | p.E366V | Missense | 10/23 | - | 1 |
3-10420041-C-T | c.1096G>A | p.E366K | Missense | 10/23 | - | 5 |
3-10420043-G-C | c.1094C>G | p.A365G | Missense | 10/23 | - | 1 |
3-10420045-A-T | c.1092T>A | p.S364R | Missense | 10/23 | - | 1 |
3-10420046-C-T | c.1091G>A | p.S364N | Missense | 10/23 | - | 1 |
3-10420051-G-A | c.1086C>T | p.L362= | Synonymous | 10/23 | - | 1 |
3-10420053-G-A | c.1084C>T | p.L362F | Missense | 10/23 | - | 1 |
3-10420053-G-T | c.1084C>A | p.L362I | Missense | 10/23 | - | 1 |
3-10420054-G-A | c.1083C>T | p.P361= | Synonymous | 10/23 | - | 2 |
3-10420056-G-C | c.1081C>G | p.P361A | Missense | 10/23 | - | 1 |
3-10420057-C-A | c.1080G>T | p.Q360H | Missense | 10/23 | - | 1 |
3-10420062-T-A | c.1075A>T | p.M359L | Missense | 10/23 | - | 1 |
3-10420066-C-T | c.1071G>A | p.M357I | Missense | 10/23 | - | 1 |
3-10420070-G-A | c.1067C>T | p.A356V | Missense | 10/23 | - | 1 |
3-10420076-G-A | c.1061C>T | p.A354V | Missense | 10/23 | - | 1 |
3-10420076-G-C | c.1061C>G | p.A354G | Missense | 10/23 | - | 1 |
3-10420080-C-T | c.1057G>A | p.G353R | Missense | 10/23 | - | 1 |
3-10420081-G-A | c.1056C>T | p.D352= | Synonymous | 10/23 | - | 2 |
3-10420087-T-C | c.1050A>G | p.Q350= | Synonymous | 10/23 | - | 18 |
3-10420091-T-C | c.1046A>G | p.K349R | Missense | 10/23 | - | 1 |
3-10420100-G-A | c.1043-6C>T | - | IntronicSNV | - | 9/22 | 1 |
3-10420100-G-C | c.1043-6C>G | - | IntronicSNV | - | 9/22 | 1 |
3-10420113-G-A | c.1043-19C>T | - | IntronicSNV | - | 9/22 | 1 |
3-10420113-G-T | c.1043-19C>A | - | IntronicSNV | - | 9/22 | 1 |
3-10420120-C-T | c.1043-26G>A | - | IntronicSNV | - | 9/22 | 1 |
3-10420301-G-A | c.1043-207C>T | - | IntronicSNV | - | 9/22 | 1 |
3-10420338-T-G | c.1043-244A>C | - | IntronicSNV | - | 9/22 | 1 |
3-10420705-G-A | c.1042+222C>T | - | IntronicSNV | - | 9/22 | 1 |
3-10420770-A-T | c.1042+157T>A | - | IntronicSNV | - | 9/22 | 1 |
3-10420875-G-A | c.1042+52C>T | - | IntronicSNV | - | 9/22 | 8 |
3-10420875-G-C | c.1042+52C>G | - | IntronicSNV | - | 9/22 | 6 |
3-10420932-C-T | c.1037G>A | p.S346N | Missense | 9/23 | - | 1 |
3-10420934-C-A | c.1035G>T | p.Q345H | Missense | 9/23 | - | 1 |
3-10420934-C-G | c.1035G>C | p.Q345H | Missense | 9/23 | - | 1 |
3-10420936-G-A | c.1033C>T | p.Q345* | Nonsense | 9/23 | - | 2 |
3-10420940-G-A | c.1029C>T | p.A343= | Synonymous | 9/23 | - | 1 |
3-10420940-G-C | c.1029C>G | p.A343= | Synonymous | 9/23 | - | 1 |
3-10420940-G-T | c.1029C>A | p.A343= | Synonymous | 9/23 | - | 1 |
3-10420942-C-T | c.1027G>A | p.A343T | Missense | 9/23 | - | 1 |
3-10420945-C-T | c.1024G>A | p.D342N | Missense | 9/23 | - | 1 |
3-10420948-C-T | c.1021G>A | p.V341M | Missense | 9/23 | - | 1 |
3-10420950-T-C | c.1019A>G | p.N340S | Missense | 9/23 | - | 1 |
3-10420953-C-T | c.1016G>A | p.G339D | Missense | 9/23 | - | 1 |
3-10420961-C-T | c.1008G>A | p.M336I | Missense | 9/23 | - | 1 |
3-10420962-ATTT-A | c.1004_1006del | p.K335del | InFrameDeletion | 9/23 | - | 1 |
3-10421107-A-G | c.1001-139T>C | - | IntronicSNV | - | 8/22 | 1 |
3-10421240-C-T | c.1001-272G>A | - | IntronicSNV | - | 8/22 | 1 |
3-10425491-G-A | c.1000+1461C>T | - | IntronicSNV | - | 8/22 | 1 |
3-10426952-C-T | c.1000G>A | p.G334S | Missense | 8/23 | - | 1 |
3-10426953-A-T | c.999T>A | p.N333K | Missense | 8/23 | - | 2 |
3-10426955-T-C | c.997A>G | p.N333D | Missense | 8/23 | - | 1 |
3-10426958-C-T | c.994G>A | p.V332I | Missense | 8/23 | - | 1 |
3-10426960-A-G | c.992T>C | p.L331P | Missense | 8/23 | - | 1 |
3-10426961-G-C | c.991C>G | p.L331V | Missense | 8/23 | - | 1 |
3-10426962-G-C | c.990C>G | p.S330R | Missense | 8/23 | - | 1 |
3-10426966-G-A | c.986C>T | p.A329V | Missense | 8/23 | - | 3 |
3-10426966-G-C | c.986C>G | p.A329G | Missense | 8/23 | - | 1 |
3-10426967-C-G | c.985G>C | p.A329P | Missense | 8/23 | - | 1 |
3-10426967-C-T | c.985G>A | p.A329T | Missense | 8/23 | - | 1 |
3-10426971-C-T | c.981G>A | p.A327= | Synonymous | 8/23 | - | 2 |
3-10426972-G-A | c.980C>T | p.A327V | Missense | 8/23 | - | 6 |
3-10426972-G-C | c.980C>G | p.A327G | Missense | 8/23 | - | 1 |
3-10426975-C-A | c.977G>T | p.S326I | Missense | 8/23 | - | 1 |
3-10426977-A-C | c.975T>G | p.D325E | Missense | 8/23 | - | 1 |
3-10426978-T-C | c.974A>G | p.D325G | Missense | 8/23 | - | 1 |
3-10426981-G-C | c.971C>G | p.A324G | Missense | 8/23 | - | 1 |
3-10426984-GC-CA | c.967_968delinsTG | p.A323C | Missense | 8/23 | - | 1 |
3-10426990-G-A | c.962C>T | p.S321L | Missense | 8/23 | - | 1 |
3-10426990-G-C | c.962C>G | p.S321* | Nonsense | 8/23 | - | 1 |
3-10426993-G-A | c.959C>T | p.A320V | Missense | 8/23 | - | 1 |
3-10426993-G-C | c.959C>G | p.A320G | Missense | 8/23 | - | 1 |
3-10426994-C-A | c.958G>T | p.A320S | Missense | 8/23 | - | 1 |
3-10426994-C-T | c.958G>A | p.A320T | Missense | 8/23 | - | 1 |
3-10426996-GC-G | c.955del | p.A319Qfs*13 | Frameshift | 8/23 | - | 1 |
3-10426998-CGC-TCA | c.952_954delinsTGA | p.A318* | Missense | 8/23 | - | 1 |
3-10426999-G-A | c.953C>T | p.A318V | Missense | 8/23 | - | 4 |
3-10427002-C-A | c.950G>T | p.G317V | Missense | 8/23 | - | 1 |
3-10427002-C-G | c.950G>C | p.G317A | Missense | 8/23 | - | 1 |
3-10427003-C-G | c.949G>C | p.G317R | Missense | 8/23 | - | 2 |
3-10427003-C-T | c.949G>A | p.G317S | Missense | 8/23 | - | 3 |
3-10427004-G-A | c.948C>T | p.D316= | Synonymous | 8/23 | - | 4 |
3-10427004-G-T | c.948C>A | p.D316E | Missense | 8/23 | - | 1 |
3-10427008-G-A | c.944C>T | p.A315V | Missense | 8/23 | - | 1 |
3-10427009-C-A | c.943G>T | p.A315S | Missense | 8/23 | - | 1 |
3-10427011-G-A | c.941C>T | p.A314V | Missense | 8/23 | - | 1 |
3-10427022-G-T | c.941-11C>A | - | IntronicSNV | - | 7/22 | 1 |
3-10427190-C-T | c.941-179G>A | - | IntronicSNV | - | 7/22 | 3 |
3-10428162-A-G | c.940+2T>C | - | IntronicSNV | - | 7/22 | 1 |
3-10428164-C-T | c.940G>A | p.A314T | Missense | 7/23 | - | 1 |
3-10428166-G-A | c.938C>T | p.P313L | Missense | 7/23 | - | 1 |
3-10428166-G-C | c.938C>G | p.P313R | Missense | 7/23 | - | 2 |
3-10428169-A-G | c.935T>C | p.L312P | Missense | 7/23 | - | 1 |
3-10428175-A-C | c.929T>G | p.L310R | Missense | 7/23 | - | 1 |
3-10428176-G-A | c.928C>T | p.L310F | Missense | 7/23 | - | 3 |
3-10428178-C-A | c.926G>T | p.G309V | Missense | 7/23 | - | 1 |
3-10428179-C-G | c.925G>C | p.G309R | Missense | 7/23 | - | 1 |
3-10428181-T-C | c.923A>G | p.D308G | Missense | 7/23 | - | 2 |
3-10428184-C-A | c.920G>T | p.G307V | Missense | 7/23 | - | 1 |
3-10428187-T-C | c.917A>G | p.K306R | Missense | 7/23 | - | 1 |
3-10428192-C-T | c.912G>A | p.V304= | Synonymous | 7/23 | - | 2 |
3-10428194-C-A | c.910G>T | p.V304L | Missense | 7/23 | - | 3 |
3-10428194-C-G | c.910G>C | p.V304L | Missense | 7/23 | - | 2 |
3-10428196-C-T | c.908G>A | p.G303D | Missense | 7/23 | - | 2 |
3-10429867-C-A | c.907+94G>T | - | IntronicSNV | - | 6/22 | 1 |
3-10429903-A-C | c.907+58T>G | - | IntronicSNV | - | 6/22 | 1 |
3-10429908-A-T | c.907+53T>A | - | IntronicSNV | - | 6/22 | 1 |
3-10429902-CA-C | c.907+58del | - | IntronicDeletion | - | 6/22 | 2 |
3-10429961-C-CA | c.906_907insT | p.G303Wfs*24 | SpliceDonorInsertion | 6/23 | - | 1 |
3-10429961-C-CG | c.906_907insC | p.G303Rfs*24 | SpliceDonorInsertion | 6/23 | - | 1 |
3-10429964-T-A | c.904A>T | p.K302* | Nonsense | 6/23 | - | 2 |
3-10429966-T-C | c.902A>G | p.K301R | Missense | 6/23 | - | 1 |
3-10429961-C-CT | c.906dup | p.G303Rfs*24 | SpliceDonorInsertion | 6/23 | - | 2 |
3-10429961-CT-C | c.906del | p.G303Vfs*2 | Frameshift | 6/23 | - | 1 |
3-10429968-G-T | c.900C>A | p.D300E | Missense | 6/23 | - | 1 |
3-10429970-C-T | c.898G>A | p.D300N | Missense | 6/23 | - | 1 |
3-10429972-T-C | c.896A>G | p.K299R | Missense | 6/23 | - | 1 |
3-10429975-T-G | c.893A>C | p.K298T | Missense | 6/23 | - | 1 |
3-10429977-C-T | c.891G>A | p.E297= | Synonymous | 6/23 | - | 1 |
3-10429978-T-C | c.890A>G | p.E297G | Missense | 6/23 | - | 1 |
3-10429980-T-A | c.888A>T | p.E296D | Missense | 6/23 | - | 1 |
3-10429980-T-G | c.888A>C | p.E296D | Missense | 6/23 | - | 1 |
3-10429983-C-A | c.885G>T | p.E295D | Missense | 6/23 | - | 1 |
3-10429983-C-G | c.885G>C | p.E295D | Missense | 6/23 | - | 1 |
3-10429985-C-G | c.883G>C | p.E295Q | Missense | 6/23 | - | 1 |
3-10429985-C-T | c.883G>A | p.E295K | Missense | 6/23 | - | 1 |
3-10429988-C-T | c.880G>A | p.E294K | Missense | 6/23 | - | 1 |
3-10429991-C-T | c.877G>A | p.G293S | Missense | 6/23 | - | 9 |
3-10429993-C-G | c.875G>C | p.G292A | Missense | 6/23 | - | 1 |
3-10429993-C-T | c.875G>A | p.G292D | Missense | 6/23 | - | 1 |
3-10429996-G-A | c.872C>T | p.A291V | Missense | 6/23 | - | 1 |
3-10429996-G-T | c.872C>A | p.A291D | Missense | 6/23 | - | 3 |
3-10429997-C-A | c.871G>T | p.A291S | Missense | 6/23 | - | 1 |
3-10429997-C-T | c.871G>A | p.A291T | Missense | 6/23 | - | 1 |
3-10429999-C-T | c.869G>A | p.G290E | Missense | 6/23 | - | 4 |
3-10430000-C-G | c.868G>C | p.G290R | Missense | 6/23 | - | 1 |
3-10430001-C-A | c.867G>T | p.L289= | Synonymous | 6/23 | - | 1 |
3-10430004-G-A | c.864C>T | p.L288= | Synonymous | 6/23 | - | 1 |
3-10430004-G-C | c.864C>G | p.L288= | Synonymous | 6/23 | - | 1 |
3-10430004-G-T | c.864C>A | p.L288= | Synonymous | 6/23 | - | 2 |
3-10430007-G-A | c.861C>T | p.T287= | Synonymous | 6/23 | - | 3 |
3-10430008-G-A | c.860C>T | p.T287I | Missense | 6/23 | - | 5 |
3-10430011-A-T | c.857T>A | p.F286Y | Missense | 6/23 | - | 3 |
3-10430013-G-A | c.855C>T | p.I285= | Synonymous | 6/23 | - | 2 |
3-10430013-G-T | c.855C>A | p.I285= | Synonymous | 6/23 | - | 3 |
3-10430015-T-C | c.853A>G | p.I285V | Missense | 6/23 | - | 1 |
3-10430018-T-C | c.850A>G | p.I284V | Missense | 6/23 | - | 2 |
3-10430021-C-T | c.847G>A | p.G283S | Missense | 6/23 | - | 8 |
3-10430025-C-T | c.843G>A | p.Q281= | Synonymous | 6/23 | - | 2 |
3-10430028-A-C | c.840T>G | p.S280= | Synonymous | 6/23 | - | 1 |
3-10430030-A-T | c.838T>A | p.S280T | Missense | 6/23 | - | 1 |
3-10430031-G-A | c.837C>T | p.N279= | Synonymous | 6/23 | - | 4 |
3-10430036-C-T | c.832G>A | p.V278M | Missense | 6/23 | - | 1 |
3-10430038-C-T | c.830G>A | p.G277D | Missense | 6/23 | - | 1 |
3-10430039-C-T | c.829G>A | p.G277S | Missense | 6/23 | - | 1 |
3-10430045-C-A | c.823G>T | p.A275S | Missense | 6/23 | - | 3 |
3-10430045-C-T | c.823G>A | p.A275T | Missense | 6/23 | - | 10 |
3-10430048-T-C | c.820A>G | p.T274A | Missense | 6/23 | - | 1 |
3-10430051-C-T | c.817G>A | p.V273M | Missense | 6/23 | - | 2 |
3-10430053-AA-GG | c.814_815delinsCC | p.L272P | Missense | 6/23 | - | 1 |
3-10430053-A-T | c.815T>A | p.L272* | Nonsense | 6/23 | - | 1 |
3-10430057-T-G | c.811A>C | p.M271L | Missense | 6/23 | - | 1 |
3-10430058-CC-AT | c.809_810delinsAT | p.R270H | Missense | 6/23 | - | 1 |
3-10430058-C-T | c.810G>A | p.R270= | Synonymous | 6/23 | - | 4 |
3-10430059-C-T | c.809G>A | p.R270Q | Missense | 6/23 | - | 3 |
3-10430058-C-A | c.810G>T | p.R270= | Synonymous | 6/23 | - | 1 |
3-10430058-C-G | c.810G>C | p.R270= | Synonymous | 6/23 | - | 1 |
3-10430060-G-A | c.808C>T | p.R270W | Missense | 6/23 | - | 6 |
3-10430060-G-T | c.808C>A | p.R270= | Synonymous | 6/23 | - | 1 |
3-10430069-C-T | c.799G>A | p.G267S | Missense | 6/23 | - | 3 |
3-10430078-C-T | c.790G>A | p.V264M | Missense | 6/23 | - | 1 |
3-10430079-G-A | c.789C>T | p.H263= | Synonymous | 6/23 | - | 1 |
3-10430079-G-T | c.789C>A | p.H263Q | Missense | 6/23 | - | 1 |
3-10430081-G-T | c.787C>A | p.H263N | Missense | 6/23 | - | 1 |
3-10430082-G-T | c.786C>A | p.T262= | Synonymous | 6/23 | - | 1 |
3-10435940-A-T | c.782-5854T>A | - | IntronicSNV | - | 5/22 | 1 |
3-10435965-C-T | c.782-5879G>A | - | IntronicSNV | - | 5/22 | 1 |
3-10436016-C-T | c.782-5930G>A | - | IntronicSNV | - | 5/22 | 2 |
3-10436303-A-G | c.782-6217T>C | - | IntronicSNV | - | 5/22 | 1 |
3-10436582-T-C | c.781+6055A>G | - | IntronicSNV | - | 5/22 | 1 |
3-10437280-T-C | c.781+5357A>G | - | IntronicSNV | - | 5/22 | 1 |
3-10438649-T-C | c.781+3988A>G | - | IntronicSNV | - | 5/22 | 1 |
3-10438649-T-G | c.781+3988A>C | - | IntronicSNV | - | 5/22 | 1 |
3-10442539-A-G | c.781+98T>C | - | IntronicSNV | - | 5/22 | 5 |
3-10442635-A-C | c.781+2T>G | - | IntronicSNV | - | 5/22 | 2 |
3-10442648-A-G | c.770T>C | p.M257T | Missense | 5/23 | - | 1 |
3-10442650-G-A | c.768C>T | p.P256= | Synonymous | 5/23 | - | 1 |
3-10442650-G-C | c.768C>G | p.P256= | Synonymous | 5/23 | - | 1 |
3-10442650-G-T | c.768C>A | p.P256= | Synonymous | 5/23 | - | 1 |
3-10442651-G-A | c.767C>T | p.P256L | Missense | 5/23 | - | 1 |
3-10442653-G-C | c.765C>G | p.D255E | Missense | 5/23 | - | 1 |
3-10442653-G-T | c.765C>A | p.D255E | Missense | 5/23 | - | 1 |
3-10442654-T-C | c.764A>G | p.D255G | Missense | 5/23 | - | 1 |
3-10442659-G-C | c.759C>G | p.D253E | Missense | 5/23 | - | 1 |
3-10442661-C-T | c.757G>A | p.D253N | Missense | 5/23 | - | 1 |
3-10442662-CA-GT | c.755_756delinsAC | p.V252D | Missense | 5/23 | - | 1 |
3-10442664-C-A | c.754G>T | p.V252L | Missense | 5/23 | - | 1 |
3-10442664-C-T | c.754G>A | p.V252M | Missense | 5/23 | - | 7 |
3-10442665-G-A | c.753C>T | p.S251= | Synonymous | 5/23 | - | 2 |
3-10442665-G-C | c.753C>G | p.S251= | Synonymous | 5/23 | - | 1 |
3-10442665-G-T | c.753C>A | p.S251= | Synonymous | 5/23 | - | 1 |
3-10442666-G-A | c.752C>T | p.S251F | Missense | 5/23 | - | 4 |
3-10442672-C-T | c.746G>A | p.R249H | Missense | 5/23 | - | 5 |
3-10442673-G-A | c.745C>T | p.R249C | Missense | 5/23 | - | 7 |
3-10442673-G-C | c.745C>G | p.R249G | Missense | 5/23 | - | 1 |
3-10442673-G-T | c.745C>A | p.R249S | Missense | 5/23 | - | 3 |
3-10442674-C-G | c.744G>C | p.V248= | Synonymous | 5/23 | - | 1 |
3-10442682-C-G | c.736G>C | p.D246H | Missense | 5/23 | - | 1 |
3-10442684-G-A | c.734C>T | p.S245F | Missense | 5/23 | - | 1 |
3-10442686-C-T | c.732G>A | p.E244= | Synonymous | 5/23 | - | 1 |
3-10442687-T-A | c.731A>T | p.E244V | Missense | 5/23 | - | 1 |
3-10442691-C-T | c.727G>A | p.G243R | Missense | 5/23 | - | 2 |
3-10442692-A-C | c.726T>G | p.T242= | Synonymous | 5/23 | - | 1 |
3-10442692-A-G | c.726T>C | p.T242= | Synonymous | 5/23 | - | 1 |
3-10442692-A-T | c.726T>A | p.T242= | Synonymous | 5/23 | - | 1 |
3-10442697-G-A | c.721C>T | p.L241= | Synonymous | 5/23 | - | 2 |
3-10442699-G-A | c.719C>T | p.S240F | Missense | 5/23 | - | 1 |
3-10442706-C-T | c.712G>A | p.E238K | Missense | 5/23 | - | 2 |
3-10442707-A-T | c.711T>A | p.D237E | Missense | 5/23 | - | 1 |
3-10442709-C-T | c.709G>A | p.D237N | Missense | 5/23 | - | 2 |
3-10442711-A-G | c.707T>C | p.I236T | Missense | 5/23 | - | 1 |
3-10442711-A-T | c.707T>A | p.I236N | Missense | 5/23 | - | 3 |
3-10442712-T-C | c.706A>G | p.I236V | Missense | 5/23 | - | 1 |
3-10442713-TC-T | c.705del | p.I236Lfs*6 | Frameshift | 5/23 | - | 1 |
3-10442714-T-C | c.704A>G | p.K235R | Missense | 5/23 | - | 1 |
3-10442716-G-A | c.702C>T | p.L234= | Synonymous | 5/23 | - | 1 |
3-10442718-G-A | c.700C>T | p.L234F | Missense | 5/23 | - | 1 |
3-10442718-G-C | c.700C>G | p.L234V | Missense | 5/23 | - | 2 |
3-10442718-G-T | c.700C>A | p.L234I | Missense | 5/23 | - | 2 |
3-10442721-C-A | c.697G>T | p.D233Y | Missense | 5/23 | - | 1 |
3-10442725-GC-CT | c.692_693delinsAG | p.G231E | Missense | 5/23 | - | 2 |
3-10442726-C-G | c.692G>C | p.G231A | Missense | 5/23 | - | 2 |
3-10442727-C-T | c.691G>A | p.G231S | Missense | 5/23 | - | 1 |
3-10442733-T-A | c.685A>T | p.I229F | Missense | 5/23 | - | 2 |
3-10442733-T-C | c.685A>G | p.I229V | Missense | 5/23 | - | 2 |
3-10442734-G-A | c.684C>T | p.F228= | Synonymous | 5/23 | - | 3 |
3-10442734-G-C | c.684C>G | p.F228L | Missense | 5/23 | - | 2 |
3-10442734-G-T | c.684C>A | p.F228L | Missense | 5/23 | - | 2 |
3-10442736-A-G | c.682T>C | p.F228L | Missense | 5/23 | - | 3 |
3-10442741-C-T | c.677G>A | p.G226D | Missense | 5/23 | - | 5 |
3-10442742-C-T | c.676G>A | p.G226S | Missense | 5/23 | - | 4 |
3-10442745-C-CA | c.672_673insT | p.D225* | Nonsense | 5/23 | - | 1 |
3-10442747-G-A | c.671C>T | p.A224V | Missense | 5/23 | - | 2 |
3-10442751-G-A | c.667C>T | p.P223S | Missense | 5/23 | - | 4 |
3-10442751-G-C | c.667C>G | p.P223A | Missense | 5/23 | - | 2 |
3-10442753-A-T | c.665T>A | p.L222H | Missense | 5/23 | - | 1 |
3-10442756-A-G | c.662T>C | p.L221P | Missense | 5/23 | - | 1 |
3-10442757-G-T | c.661C>A | p.L221I | Missense | 5/23 | - | 3 |
3-10442758-G-T | c.660C>A | p.D220E | Missense | 5/23 | - | 1 |
3-10442759-T-C | c.659A>G | p.D220G | Missense | 5/23 | - | 1 |
3-10442779-C-T | c.656-17G>A | - | IntronicSNV | - | 4/22 | 2 |
3-10442912-T-A | c.656-150A>T | - | IntronicSNV | - | 4/22 | 1 |
3-10443779-T-A | c.651A>T | p.K217N | Missense | 4/23 | - | 1 |
3-10443779-T-G | c.651A>C | p.K217N | Missense | 4/23 | - | 1 |
3-10443782-G-A | c.648C>T | p.V216= | Synonymous | 4/23 | - | 1 |
3-10443782-G-C | c.648C>G | p.V216= | Synonymous | 4/23 | - | 1 |
3-10443782-G-T | c.648C>A | p.V216= | Synonymous | 4/23 | - | 1 |
3-10443785-C-A | c.645G>T | p.Q215H | Missense | 4/23 | - | 1 |
3-10443786-T-G | c.644A>C | p.Q215P | Missense | 4/23 | - | 1 |
3-10443790-C-A | c.640G>T | p.A214S | Missense | 4/23 | - | 1 |
3-10443790-C-T | c.640G>A | p.A214T | Missense | 4/23 | - | 2 |
3-10443791-T-C | c.639A>G | p.I213M | Missense | 4/23 | - | 1 |
3-10443795-T-C | c.635A>G | p.D212G | Missense | 4/23 | - | 1 |
3-10443796-C-T | c.634G>A | p.D212N | Missense | 4/23 | - | 1 |
3-10443797-C-A | c.633G>T | p.G211= | Synonymous | 4/23 | - | 1 |
3-10443797-C-G | c.633G>C | p.G211= | Synonymous | 4/23 | - | 1 |
3-10443797-C-T | c.633G>A | p.G211= | Synonymous | 4/23 | - | 2 |
3-10443798-C-G | c.632G>C | p.G211A | Missense | 4/23 | - | 1 |
3-10443799-C-T | c.631G>A | p.G211R | Missense | 4/23 | - | 1 |
3-10443801-A-G | c.629T>C | p.V210A | Missense | 4/23 | - | 1 |
3-10443802-C-T | c.628G>A | p.V210I | Missense | 4/23 | - | 1 |
3-10443804-A-G | c.626T>C | p.V209A | Missense | 4/23 | - | 1 |
3-10443805-C-T | c.625G>A | p.V209M | Missense | 4/23 | - | 1 |
3-10443806-G-A | c.624C>T | p.I208= | Synonymous | 4/23 | - | 3 |
3-10443806-G-T | c.624C>A | p.I208= | Synonymous | 4/23 | - | 1 |
3-10443808-T-A | c.622A>T | p.I208F | Missense | 4/23 | - | 1 |
3-10443809-C-A | c.621G>T | p.E207D | Missense | 4/23 | - | 1 |
3-10443809-C-G | c.621G>C | p.E207D | Missense | 4/23 | - | 1 |
3-10443810-T-G | c.620A>C | p.E207A | Missense | 4/23 | - | 1 |
3-10443814-C-A | c.616G>T | p.A206S | Missense | 4/23 | - | 1 |
3-10443814-C-G | c.616G>C | p.A206P | Missense | 4/23 | - | 1 |
3-10443814-C-T | c.616G>A | p.A206T | Missense | 4/23 | - | 2 |
3-10443821-G-C | c.609C>G | p.I203M | Missense | 4/23 | - | 1 |
3-10443824-C-A | c.606G>T | p.Q202H | Missense | 4/23 | - | 1 |
3-10443824-C-G | c.606G>C | p.Q202H | Missense | 4/23 | - | 1 |
3-10443827-G-A | c.603C>T | p.V201= | Synonymous | 4/23 | - | 2 |
3-10443827-G-C | c.603C>G | p.V201= | Synonymous | 4/23 | - | 8 |
3-10443827-G-T | c.603C>A | p.V201= | Synonymous | 4/23 | - | 8 |
3-10443828-A-T | c.602T>A | p.V201D | Missense | 4/23 | - | 1 |
3-10443829-C-G | c.601G>C | p.V201L | Missense | 4/23 | - | 2 |
3-10443835-G-C | c.595C>G | p.Q199E | Missense | 4/23 | - | 1 |
3-10443836-G-A | c.594C>T | p.G198= | Synonymous | 4/23 | - | 1 |
3-10443841-C-T | c.589G>A | p.A197T | Missense | 4/23 | - | 2 |
3-10443842-CC-AT | c.587_588delinsAT | p.R196H | Missense | 4/23 | - | 2 |
3-10443843-C-T | c.587G>A | p.R196Q | Missense | 4/23 | - | 1 |
3-10443844-G-A | c.586C>T | p.R196W | Missense | 4/23 | - | 3 |
3-10443848-C-A | c.582G>T | p.V194= | Synonymous | 4/23 | - | 1 |
3-10443850-C-A | c.580G>T | p.V194L | Missense | 4/23 | - | 1 |
3-10443850-C-T | c.580G>A | p.V194M | Missense | 4/23 | - | 4 |
3-10443851-G-A | c.579C>T | p.T193= | Synonymous | 4/23 | - | 1 |
3-10443851-G-T | c.579C>A | p.T193= | Synonymous | 4/23 | - | 2 |
3-10443852-G-A | c.578C>T | p.T193I | Missense | 4/23 | - | 1 |
3-10443855-A-C | c.575T>G | p.F192C | Missense | 4/23 | - | 1 |
3-10443856-A-T | c.574T>A | p.F192I | Missense | 4/23 | - | 1 |
3-10443857-T-C | c.573A>G | p.K191= | Synonymous | 4/23 | - | 1 |
3-10443859-T-C | c.571A>G | p.K191E | Missense | 4/23 | - | 1 |
3-10443861-T-C | c.569A>G | p.Q190R | Missense | 4/23 | - | 1 |
3-10443864-T-G | c.566A>C | p.E189A | Missense | 4/23 | - | 1 |
3-10443865-C-T | c.565G>A | p.E189K | Missense | 4/23 | - | 1 |
3-10443871-C-T | c.559G>A | p.E187K | Missense | 4/23 | - | 8 |
3-10443872-G-A | c.558C>T | p.I186= | Synonymous | 4/23 | - | 2 |
3-10443872-G-T | c.558C>A | p.I186= | Synonymous | 4/23 | - | 3 |
3-10443876-C-T | c.554G>A | p.R185H | Missense | 4/23 | - | 4 |
3-10443877-G-A | c.553C>T | p.R185C | Missense | 4/23 | - | 2 |
3-10443879-C-T | c.551G>A | p.S184N | Missense | 4/23 | - | 1 |
3-10443880-T-C | c.550A>G | p.S184G | Missense | 4/23 | - | 1 |
3-10443881-C-T | c.549G>A | p.Q183= | Synonymous | 4/23 | - | 1 |
3-10443883-G-C | c.547C>G | p.Q183E | Missense | 4/23 | - | 1 |
3-10443886-G-T | c.544C>A | p.L182M | Missense | 4/23 | - | 3 |
3-10443887-G-A | c.543C>T | p.G181= | Synonymous | 4/23 | - | 2 |
3-10443887-G-C | c.543C>G | p.G181= | Synonymous | 4/23 | - | 1 |
3-10443887-G-T | c.543C>A | p.G181= | Synonymous | 4/23 | - | 1 |
3-10443888-C-A | c.542G>T | p.G181V | Missense | 4/23 | - | 2 |
3-10443889-C-T | c.541G>A | p.G181S | Missense | 4/23 | - | 1 |
3-10443891-C-T | c.539G>A | p.R180Q | Missense | 4/23 | - | 5 |
3-10443892-G-A | c.538C>T | p.R180W | Missense | 4/23 | - | 2 |
3-10443894-A-G | c.536T>C | p.F179S | Missense | 4/23 | - | 1 |
3-10443895-A-G | c.535T>C | p.F179L | Missense | 4/23 | - | 1 |
3-10443902-C-T | c.528G>A | p.E176= | Synonymous | 4/23 | - | 1 |
3-10443904-C-G | c.526G>C | p.E176Q | Missense | 4/23 | - | 2 |
3-10443909-CT-AG | c.520_521inv | p.S174L | Missense | 4/23 | - | 1 |
3-10443911-C-T | c.519G>A | p.W173* | Nonsense | 4/23 | - | 1 |
3-10443912-C-A | c.518G>T | p.W173L | Missense | 4/23 | - | 2 |
3-10443912-C-T | c.518G>A | p.W173* | Nonsense | 4/23 | - | 5 |
3-10443914-G-C | c.516C>G | p.D172E | Missense | 4/23 | - | 1 |
3-10443914-G-T | c.516C>A | p.D172E | Missense | 4/23 | - | 1 |
3-10443918-T-C | c.512A>G | p.N171S | Missense | 4/23 | - | 2 |
3-10443920-G-A | c.510C>T | p.F170= | Synonymous | 4/23 | - | 3 |
3-10443924-G-A | c.506C>T | p.A169V | Missense | 4/23 | - | 2 |
3-10443926-C-A | c.504G>T | p.T168= | Synonymous | 4/23 | - | 1 |
3-10443927-G-A | c.503C>T | p.T168M | Missense | 4/23 | - | 3 |
3-10443928-T-C | c.502A>G | p.T168A | Missense | 4/23 | - | 1 |
3-10443933-A-G | c.497T>C | p.L166P | Missense | 4/23 | - | 1 |
3-10443935-G-A | c.495C>T | p.V165= | Synonymous | 4/23 | - | 2 |
3-10443938-C-A | c.492G>T | p.V164= | Synonymous | 4/23 | - | 1 |
3-10443938-C-G | c.492G>C | p.V164= | Synonymous | 4/23 | - | 1 |
3-10443938-C-T | c.492G>A | p.V164= | Synonymous | 4/23 | - | 1 |
3-10443939-A-G | c.491T>C | p.V164A | Missense | 4/23 | - | 3 |
3-10443942-C-T | c.488G>A | p.C163Y | Missense | 4/23 | - | 2 |
3-10443948-A-C | c.482T>G | p.V161G | Missense | 4/23 | - | 2 |
3-10443949-C-T | c.481G>A | p.V161I | Missense | 4/23 | - | 1 |
3-10443952-A-G | c.478T>C | p.S160P | Missense | 4/23 | - | 2 |
3-10443955-G-A | c.475C>T | p.L159F | Missense | 4/23 | - | 1 |
3-10443955-G-C | c.475C>G | p.L159V | Missense | 4/23 | - | 1 |
3-10443965-G-A | c.465C>T | p.A155= | Synonymous | 4/23 | - | 4 |
3-10443965-G-C | c.465C>G | p.A155= | Synonymous | 4/23 | - | 2 |
3-10443965-G-T | c.465C>A | p.A155= | Synonymous | 4/23 | - | 2 |
3-10443964-CG-C | c.465del | p.A156Pfs*58 | Frameshift | 4/23 | - | 2 |
3-10443966-G-A | c.464C>T | p.A155V | Missense | 4/23 | - | 2 |
3-10443966-G-C | c.464C>G | p.A155G | Missense | 4/23 | - | 1 |
3-10443967-C-G | c.463G>C | p.A155P | Missense | 4/23 | - | 1 |
3-10443967-C-T | c.463G>A | p.A155T | Missense | 4/23 | - | 1 |
3-10443969-C-T | c.461G>A | p.G154E | Missense | 4/23 | - | 3 |
3-10443970-C-G | c.460G>C | p.G154R | Missense | 4/23 | - | 1 |
3-10443970-C-T | c.460G>A | p.G154R | Missense | 4/23 | - | 1 |
3-10443966-GC-G | c.463del | p.A155Pfs*59 | Frameshift | 4/23 | - | 4 |
3-10443973-C-T | c.457G>A | p.E153K | Missense | 4/23 | - | 3 |
3-10443974-G-A | c.456C>T | p.I152= | Synonymous | 4/23 | - | 3 |
3-10443974-G-T | c.456C>A | p.I152= | Synonymous | 4/23 | - | 2 |
3-10443976-T-C | c.454A>G | p.I152V | Missense | 4/23 | - | 1 |
3-10443976-T-G | c.454A>C | p.I152L | Missense | 4/23 | - | 1 |
3-10443977-C-A | c.453G>T | p.W151C | Missense | 4/23 | - | 2 |
3-10443977-C-G | c.453G>C | p.W151C | Missense | 4/23 | - | 1 |
3-10443977-C-T | c.453G>A | p.W151* | Nonsense | 4/23 | - | 5 |
3-10443978-C-T | c.452G>A | p.W151* | Nonsense | 4/23 | - | 3 |
3-10443986-C-A | c.444G>T | p.E148D | Missense | 4/23 | - | 2 |
3-10443986-C-G | c.444G>C | p.E148D | Missense | 4/23 | - | 1 |
3-10443986-C-T | c.444G>A | p.E148= | Synonymous | 4/23 | - | 1 |
3-10443987-T-C | c.443A>G | p.E148G | Missense | 4/23 | - | 1 |
3-10443990-G-A | c.440C>T | p.A147V | Missense | 4/23 | - | 1 |
3-10443991-C-T | c.439G>A | p.A147T | Missense | 4/23 | - | 1 |
3-10443997-C-T | c.433G>A | p.G145R | Missense | 4/23 | - | 1 |
3-10444000-C-T | c.430G>A | p.E144K | Missense | 4/23 | - | 2 |
3-10444009-C-T | c.421G>A | p.A141T | Missense | 4/23 | - | 1 |
3-10444010-C-A | c.420G>T | p.G140= | Synonymous | 4/23 | - | 1 |
3-10444010-C-G | c.420G>C | p.G140= | Synonymous | 4/23 | - | 1 |
3-10444010-C-T | c.420G>A | p.G140= | Synonymous | 4/23 | - | 1 |
3-10444012-C-G | c.418G>C | p.G140R | Missense | 4/23 | - | 1 |
3-10444013-A-C | c.417T>G | p.G139= | Synonymous | 4/23 | - | 1 |
3-10444013-A-G | c.417T>C | p.G139= | Synonymous | 4/23 | - | 1 |
3-10444013-A-T | c.417T>A | p.G139= | Synonymous | 4/23 | - | 1 |
3-10444015-C-T | c.415G>A | p.G139S | Missense | 4/23 | - | 1 |
3-10444016-C-A | c.414G>T | p.Q138H | Missense | 4/23 | - | 1 |
3-10444016-C-G | c.414G>C | p.Q138H | Missense | 4/23 | - | 1 |
3-10444018-G-C | c.412C>G | p.Q138E | Missense | 4/23 | - | 2 |
3-10444020-G-A | c.410C>T | p.A137V | Missense | 4/23 | - | 1 |
3-10444021-C-A | c.409G>T | p.A137S | Missense | 4/23 | - | 1 |
3-10444021-C-T | c.409G>A | p.A137T | Missense | 4/23 | - | 3 |
3-10444022-C-G | c.408G>C | p.T136= | Synonymous | 4/23 | - | 1 |
3-10444023-G-A | c.407C>T | p.T136M | Missense | 4/23 | - | 3 |
3-10444023-G-T | c.407C>A | p.T136K | Missense | 4/23 | - | 1 |
3-10444026-G-A | c.404C>T | p.A135V | Missense | 4/23 | - | 4 |
3-10444027-C-T | c.403G>A | p.A135T | Missense | 4/23 | - | 1 |
3-10446960-T-C | c.398-2928A>G | - | IntronicSNV | - | 3/22 | 1 |
3-10448340-T-C | c.397+3962A>G | - | IntronicSNV | - | 3/22 | 1 |
3-10448426-T-C | c.397+3876A>G | - | IntronicSNV | - | 3/22 | 1 |
3-10449349-C-T | c.397+2953G>A | - | IntronicSNV | - | 3/22 | 1 |
3-10452231-G-A | c.397+71C>T | - | IntronicSNV | - | 3/22 | 8 |
3-10452301-C-T | c.397+1G>A | - | IntronicSNV | - | 3/22 | 1 |
3-10452302-C-T | c.397G>A | p.G133R | Missense | 3/23 | - | 1 |
3-10452305-C-T | c.394G>A | p.E132K | Missense | 3/23 | - | 7 |
3-10452310-C-T | c.389G>A | p.G130D | Missense | 3/23 | - | 1 |
3-10452312-C-G | c.387G>C | p.E129D | Missense | 3/23 | - | 1 |
3-10452314-C-A | c.385G>T | p.E129* | Nonsense | 3/23 | - | 1 |
3-10452314-C-T | c.385G>A | p.E129K | Missense | 3/23 | - | 2 |
3-10452315-G-A | c.384C>T | p.G128= | Synonymous | 3/23 | - | 2 |
3-10452315-G-C | c.384C>G | p.G128= | Synonymous | 3/23 | - | 1 |
3-10452315-G-T | c.384C>A | p.G128= | Synonymous | 3/23 | - | 1 |
3-10452317-C-G | c.382G>C | p.G128R | Missense | 3/23 | - | 1 |
3-10452317-C-T | c.382G>A | p.G128S | Missense | 3/23 | - | 1 |
3-10452319-G-A | c.380C>T | p.P127L | Missense | 3/23 | - | 1 |
3-10452321-C-A | c.378G>T | p.P126= | Synonymous | 3/23 | - | 1 |
3-10452321-C-G | c.378G>C | p.P126= | Synonymous | 3/23 | - | 1 |
3-10452321-C-T | c.378G>A | p.P126= | Synonymous | 3/23 | - | 2 |
3-10452322-G-A | c.377C>T | p.P126L | Missense | 3/23 | - | 4 |
3-10452323-G-A | c.376C>T | p.P126S | Missense | 3/23 | - | 1 |
3-10452323-G-T | c.376C>A | p.P126T | Missense | 3/23 | - | 1 |
3-10452326-G-A | c.373C>T | p.H125Y | Missense | 3/23 | - | 2 |
3-10452327-G-A | c.372C>T | p.Y124= | Synonymous | 3/23 | - | 3 |
3-10452332-A-G | c.367T>C | p.F123L | Missense | 3/23 | - | 1 |
3-10452331-AAGG-A | c.365_367del | p.S122del | InFrameDeletion | 3/23 | - | 1 |
3-10452333-G-A | c.366C>T | p.S122= | Synonymous | 3/23 | - | 1 |
3-10452344-G-C | c.355C>G | p.L119V | Missense | 3/23 | - | 2 |
3-10452345-G-A | c.354C>T | p.S118= | Synonymous | 3/23 | - | 2 |
3-10452345-G-C | c.354C>G | p.S118= | Synonymous | 3/23 | - | 2 |
3-10452345-G-T | c.354C>A | p.S118= | Synonymous | 3/23 | - | 2 |
3-10452346-G-A | c.353C>T | p.S118F | Missense | 3/23 | - | 3 |
3-10452348-G-A | c.351C>T | p.I117= | Synonymous | 3/23 | - | 1 |
3-10452350-T-C | c.349A>G | p.I117V | Missense | 3/23 | - | 2 |
3-10452353-T-C | c.346A>G | p.I116V | Missense | 3/23 | - | 1 |
3-10452354-G-T | c.345C>A | p.A115= | Synonymous | 3/23 | - | 2 |
3-10452355-G-A | c.344C>T | p.A115V | Missense | 3/23 | - | 2 |
3-10452356-C-T | c.343G>A | p.A115T | Missense | 3/23 | - | 8 |
3-10452358-G-A | c.341C>T | p.A114V | Missense | 3/23 | - | 5 |
3-10452362-T-A | c.337A>T | p.I113F | Missense | 3/23 | - | 2 |
3-10452362-T-C | c.337A>G | p.I113V | Missense | 3/23 | - | 1 |
3-10452363-C-A | c.336G>T | p.E112D | Missense | 3/23 | - | 1 |
3-10452363-C-G | c.336G>C | p.E112D | Missense | 3/23 | - | 1 |
3-10452364-T-A | c.335A>T | p.E112V | Missense | 3/23 | - | 2 |
3-10452365-C-A | c.334G>T | p.E112* | Nonsense | 3/23 | - | 2 |
3-10452365-C-G | c.334G>C | p.E112Q | Missense | 3/23 | - | 1 |
3-10452365-C-T | c.334G>A | p.E112K | Missense | 3/23 | - | 5 |
3-10452366-C-A | c.333G>T | p.L111= | Synonymous | 3/23 | - | 1 |
3-10452366-C-G | c.333G>C | p.L111= | Synonymous | 3/23 | - | 1 |
3-10452366-C-T | c.333G>A | p.L111= | Synonymous | 3/23 | - | 1 |
3-10452368-G-A | c.331C>T | p.L111= | Synonymous | 3/23 | - | 2 |
3-10452367-A-T | c.332T>A | p.L111Q | Missense | 3/23 | - | 2 |
3-10452370-A-G | c.329T>C | p.I110T | Missense | 3/23 | - | 1 |
3-10452372-G-A | c.327C>T | p.I109= | Synonymous | 3/23 | - | 2 |
3-10452373-A-T | c.326T>A | p.I109N | Missense | 3/23 | - | 1 |
3-10452378-C-A | c.321G>T | p.T107= | Synonymous | 3/23 | - | 3 |
3-10452378-C-G | c.321G>C | p.T107= | Synonymous | 3/23 | - | 1 |
3-10452378-C-T | c.321G>A | p.T107= | Synonymous | 3/23 | - | 3 |
3-10452379-G-A | c.320C>T | p.T107M | Missense | 3/23 | - | 4 |
3-10452381-C-T | c.318G>A | p.V106= | Synonymous | 3/23 | - | 1 |
3-10452383-C-T | c.316G>A | p.V106M | Missense | 3/23 | - | 2 |
3-10452384-G-A | c.315C>T | p.D105= | Synonymous | 3/23 | - | 3 |
3-10452385-T-C | c.314A>G | p.D105G | Missense | 3/23 | - | 1 |
3-10452387-C-T | c.312G>A | p.Q104= | Synonymous | 3/23 | - | 1 |
3-10452389-G-A | c.310C>T | p.Q104* | Nonsense | 3/23 | - | 1 |
3-10452393-C-A | c.306G>T | p.A102= | Synonymous | 3/23 | - | 1 |
3-10452393-C-CTCGTGTGGGAG | c.305_306insCTCCCACACGA | p.L103Sfs*8 | Frameshift | 3/23 | - | 1 |
3-10452393-C-G | c.306G>C | p.A102= | Synonymous | 3/23 | - | 1 |
3-10452393-C-T | c.306G>A | p.A102= | Synonymous | 3/23 | - | 1 |
3-10452394-G-A | c.305C>T | p.A102V | Missense | 3/23 | - | 2 |
3-10452396-CCTCCCACACGA-C | c.293_303del | p.L98Rfs*43 | Frameshift | 3/23 | - | 1 |
3-10452398-C-T | c.301G>A | p.E101K | Missense | 3/23 | - | 4 |
3-10452399-C-A | c.300G>T | p.W100C | Missense | 3/23 | - | 2 |
3-10452399-C-G | c.300G>C | p.W100C | Missense | 3/23 | - | 2 |
3-10452403-A-G | c.296T>C | p.V99A | Missense | 3/23 | - | 1 |
3-10452404-C-T | c.295G>A | p.V99M | Missense | 3/23 | - | 3 |
3-10452405-G-A | c.294C>T | p.L98= | Synonymous | 3/23 | - | 2 |
3-10452405-G-C | c.294C>G | p.L98= | Synonymous | 3/23 | - | 1 |
3-10452405-G-T | c.294C>A | p.L98= | Synonymous | 3/23 | - | 1 |
3-10452405-G-GA | c.293dup | p.V99Rfs*46 | Frameshift | 3/23 | - | 1 |
3-10452406-A-G | c.293T>C | p.L98P | Missense | 3/23 | - | 1 |
3-10452412-A-G | c.287T>C | p.L96P | Missense | 3/23 | - | 1 |
3-10452414-G-A | c.285C>T | p.F95= | Synonymous | 3/23 | - | 3 |
3-10452419-T-A | c.280A>T | p.T94S | Missense | 3/23 | - | 1 |
3-10452423-T-A | c.276A>T | p.P92= | Synonymous | 3/23 | - | 1 |
3-10452423-T-C | c.276A>G | p.P92= | Synonymous | 3/23 | - | 1 |
3-10452423-T-G | c.276A>C | p.P92= | Synonymous | 3/23 | - | 1 |
3-10452424-G-A | c.275C>T | p.P92L | Missense | 3/23 | - | 4 |
3-10452429-C-A | c.270G>T | p.K90N | Missense | 3/23 | - | 1 |
3-10452429-C-G | c.270G>C | p.K90N | Missense | 3/23 | - | 1 |
3-10452432-T-C | c.267A>G | p.P89= | Synonymous | 3/23 | - | 1 |
3-10452436-G-A | c.263C>T | p.P88L | Missense | 3/23 | - | 2 |
3-10452437-G-A | c.262C>T | p.P88S | Missense | 3/23 | - | 1 |
3-10452440-T-C | c.259A>G | p.I87V | Missense | 3/23 | - | 2 |
3-10452442-A-C | c.257T>G | p.F86C | Missense | 3/23 | - | 1 |
3-10452443-A-C | c.256T>G | p.F86V | Missense | 3/23 | - | 1 |
3-10452443-A-G | c.256T>C | p.F86L | Missense | 3/23 | - | 1 |
3-10452443-A-T | c.256T>A | p.F86I | Missense | 3/23 | - | 1 |
3-10452444-G-A | c.255C>T | p.N85= | Synonymous | 3/23 | - | 3 |
3-10452445-T-G | c.254A>C | p.N85T | Missense | 3/23 | - | 3 |
3-10452447-T-A | c.252A>T | p.Q84H | Missense | 3/23 | - | 1 |
3-10452447-T-G | c.252A>C | p.Q84H | Missense | 3/23 | - | 1 |
3-10452448-T-C | c.251A>G | p.Q84R | Missense | 3/23 | - | 1 |
3-10452450-C-G | c.249G>C | p.G83= | Synonymous | 3/23 | - | 1 |
3-10452453-A-C | c.246T>G | p.F82L | Missense | 3/23 | - | 1 |
3-10452455-A-T | c.244T>A | p.F82I | Missense | 3/23 | - | 1 |
3-10452456-A-C | c.243T>G | p.I81M | Missense | 3/23 | - | 1 |
3-10452461-G-A | c.238C>T | p.Q80* | Nonsense | 3/23 | - | 1 |
3-10452465-T-A | c.234A>T | p.R78S | Missense | 3/23 | - | 1 |
3-10452466-C-T | c.233G>A | p.R78K | Missense | 3/23 | - | 1 |
3-10452467-T-C | c.232A>G | p.R78G | Missense | 3/23 | - | 1 |
3-10452472-T-A | c.227A>T | p.E76V | Missense | 3/23 | - | 1 |
3-10452472-T-C | c.227A>G | p.E76G | Missense | 3/23 | - | 1 |
3-10452473-C-G | c.226G>C | p.E76Q | Missense | 3/23 | - | 2 |
3-10452473-C-T | c.226G>A | p.E76K | Missense | 3/23 | - | 7 |
3-10452477-G-T | c.222C>A | p.D74E | Missense | 3/23 | - | 1 |
3-10452478-T-G | c.221A>C | p.D74A | Missense | 3/23 | - | 1 |
3-10452479-C-A | c.220G>T | p.D74Y | Missense | 3/23 | - | 1 |
3-10452481-G-A | c.218C>T | p.P73L | Missense | 3/23 | - | 1 |
3-10452482-G-A | c.217C>T | p.P73S | Missense | 3/23 | - | 1 |
3-10452485-C-T | c.214G>A | p.A72T | Missense | 3/23 | - | 3 |
3-10452489-GC-CT | c.209_210delinsAG | p.G70E | Missense | 3/23 | - | 1 |
3-10452490-C-A | c.209G>T | p.G70V | Missense | 3/23 | - | 1 |
3-10452491-C-G | c.208G>C | p.G70R | Missense | 3/23 | - | 1 |
3-10452492-CG-AT | c.206_207delinsAT | p.P69H | Missense | 3/23 | - | 1 |
3-10452492-C-T | c.207G>A | p.P69= | Synonymous | 3/23 | - | 1 |
3-10452493-G-A | c.206C>T | p.P69L | Missense | 3/23 | - | 6 |
3-10452494-G-A | c.205C>T | p.P69S | Missense | 3/23 | - | 3 |
3-10452495-C-A | c.204G>T | p.L68F | Missense | 3/23 | - | 2 |
3-10452495-C-G | c.204G>C | p.L68F | Missense | 3/23 | - | 2 |
3-10452499-C-T | c.200G>A | p.G67D | Missense | 3/23 | - | 1 |
3-10454827-C-G | c.200-2328G>C | - | IntronicSNV | - | 2/22 | 1 |
3-10460481-C-T | c.200-7982G>A | - | IntronicSNV | - | 2/22 | 1 |
3-10466994-A-C | c.200-14495T>G | - | IntronicSNV | - | 2/22 | 1 |
3-10466994-A-T | c.200-14495T>A | - | IntronicSNV | - | 2/22 | 1 |
3-10468723-T-G | c.200-16224A>C | - | IntronicSNV | - | 2/22 | 1 |
3-10474137-T-C | c.199+16892A>G | - | IntronicSNV | - | 2/22 | 1 |
3-10479788-A-C | c.199+11241T>G | - | IntronicSNV | - | 2/22 | 1 |
3-10479788-A-G | c.199+11241T>C | - | IntronicSNV | - | 2/22 | 1 |
3-10481066-C-G | c.199+9963G>C | - | IntronicSNV | - | 2/22 | 1 |
3-10490836-CCT-C | c.199+192_199+193del | - | IntronicDeletion | - | 2/22 | 1 |
3-10491017-T-G | c.199+12A>C | - | IntronicSNV | - | 2/22 | 1 |
3-10491019-G-A | c.199+10C>T | - | IntronicSNV | - | 2/22 | 1 |
3-10491030-TTC-AAA | c.196_198delinsTTT | p.E66F | Missense | 2/23 | - | 1 |
3-10491031-T-C | c.197A>G | p.E66G | Missense | 2/23 | - | 1 |
3-10491037-G-C | c.191C>G | p.P64R | Missense | 2/23 | - | 1 |
3-10491038-G-A | c.190C>T | p.P64S | Missense | 2/23 | - | 1 |
3-10491040-G-C | c.188C>G | p.S63* | Nonsense | 2/23 | - | 2 |
3-10491040-G-T | c.188C>A | p.S63* | Nonsense | 2/23 | - | 2 |
3-10491044-T-A | c.184A>T | p.T62S | Missense | 2/23 | - | 1 |
3-10491046-T-A | c.182A>T | p.K61I | Missense | 2/23 | - | 1 |
3-10491046-T-C | c.182A>G | p.K61R | Missense | 2/23 | - | 1 |
3-10491047-T-G | c.181A>C | p.K61Q | Missense | 2/23 | - | 1 |
3-10491052-C-T | c.176G>A | p.R59H | Missense | 2/23 | - | 8 |
3-10491053-G-A | c.175C>T | p.R59C | Missense | 2/23 | - | 6 |
3-10491055-C-T | c.173G>A | p.R58Q | Missense | 2/23 | - | 1 |
3-10491056-G-A | c.172C>T | p.R58W | Missense | 2/23 | - | 1 |
3-10491058-CA-AG | c.169_170delinsCT | p.C57L | Missense | 2/23 | - | 1 |
3-10491058-C-G | c.170G>C | p.C57S | Missense | 2/23 | - | 1 |
3-10491059-A-C | c.169T>G | p.C57G | Missense | 2/23 | - | 1 |
3-10491061-A-G | c.167T>C | p.I56T | Missense | 2/23 | - | 1 |
3-10491063-G-A | c.165C>T | p.A55= | Synonymous | 2/23 | - | 1 |
3-10491064-G-A | c.164C>T | p.A55V | Missense | 2/23 | - | 1 |
3-10491066-T-A | c.162A>T | p.E54D | Missense | 2/23 | - | 1 |
3-10491069-G-A | c.159C>T | p.T53= | Synonymous | 2/23 | - | 4 |
3-10491069-G-C | c.159C>G | p.T53= | Synonymous | 2/23 | - | 2 |
3-10491069-G-T | c.159C>A | p.T53= | Synonymous | 2/23 | - | 2 |
3-10491077-C-A | c.151G>T | p.G51W | Missense | 2/23 | - | 1 |
3-10491077-C-T | c.151G>A | p.G51R | Missense | 2/23 | - | 1 |
3-10491079-T-A | c.149A>T | p.Y50F | Missense | 2/23 | - | 2 |
3-10491080-A-T | c.148T>A | p.Y50N | Missense | 2/23 | - | 1 |
3-10491081-AG-CA | c.146_147delinsTG | p.T49M | Missense | 2/23 | - | 1 |
3-10491082-G-A | c.146C>T | p.T49I | Missense | 2/23 | - | 1 |
3-10491083-T-C | c.145A>G | p.T49A | Missense | 2/23 | - | 1 |
3-10491084-C-G | c.144G>C | p.E48D | Missense | 2/23 | - | 1 |
3-10491085-T-C | c.143A>G | p.E48G | Missense | 2/23 | - | 3 |
3-10491083-TCTC-T | c.142_144del | p.E48del | InFrameDeletion | 2/23 | - | 1 |
3-10491087-C-T | c.141G>A | p.K47= | Synonymous | 2/23 | - | 1 |
3-10491089-T-G | c.139A>C | p.K47Q | Missense | 2/23 | - | 1 |
3-10491090-G-C | c.138C>G | p.I46M | Missense | 2/23 | - | 1 |
3-10491097-A-G | c.131T>C | p.V44A | Missense | 2/23 | - | 1 |
3-10491098-C-G | c.130G>C | p.V44L | Missense | 2/23 | - | 2 |
3-10491099-C-A | c.129G>T | p.V43= | Synonymous | 2/23 | - | 1 |
3-10491099-C-G | c.129G>C | p.V43= | Synonymous | 2/23 | - | 1 |
3-10491099-C-T | c.129G>A | p.V43= | Synonymous | 2/23 | - | 1 |
3-10491102-A-C | c.126T>G | p.A42= | Synonymous | 2/23 | - | 1 |
3-10491102-A-G | c.126T>C | p.A42= | Synonymous | 2/23 | - | 1 |
3-10491102-A-T | c.126T>A | p.A42= | Synonymous | 2/23 | - | 1 |
3-10491103-GC-TA | c.124_125delinsTA | p.A42Y | Missense | 2/23 | - | 2 |
3-10491103-GC-TG | c.124_125delinsCA | p.A42H | Missense | 2/23 | - | 1 |
3-10491105-C-T | c.123G>A | p.E41= | Synonymous | 2/23 | - | 2 |
3-10491107-C-T | c.121G>A | p.E41K | Missense | 2/23 | - | 2 |
3-10491110-T-A | c.118A>T | p.T40S | Missense | 2/23 | - | 1 |
3-10491110-T-TG | c.117dup | p.T40Hfs*2 | Frameshift | 2/23 | - | 2 |
3-10491112-C-T | c.116G>A | p.G39D | Missense | 2/23 | - | 1 |
3-10491113-C-T | c.115G>A | p.G39S | Missense | 2/23 | - | 1 |
3-10491114-C-T | c.114G>A | p.R38= | Synonymous | 2/23 | - | 2 |
3-10491111-G-GC | c.116dup | p.T40Hfs*2 | Frameshift | 2/23 | - | 1 |
3-10491115-C-T | c.113G>A | p.R38Q | Missense | 2/23 | - | 5 |
3-10491116-G-A | c.112C>T | p.R38W | Missense | 2/23 | - | 1 |
3-10491120-C-A | c.108G>T | p.E36D | Missense | 2/23 | - | 1 |
3-10491120-C-G | c.108G>C | p.E36D | Missense | 2/23 | - | 1 |
3-10491123-C-A | c.105G>T | p.M35I | Missense | 2/23 | - | 3 |
3-10491123-C-G | c.105G>C | p.M35I | Missense | 2/23 | - | 3 |
3-10491123-C-T | c.105G>A | p.M35I | Missense | 2/23 | - | 4 |
3-10491125-T-C | c.103A>G | p.M35V | Missense | 2/23 | - | 3 |
3-10491126-G-A | c.102C>T | p.L34= | Synonymous | 2/23 | - | 1 |
3-10491126-G-C | c.102C>G | p.L34= | Synonymous | 2/23 | - | 1 |
3-10491126-G-T | c.102C>A | p.L34= | Synonymous | 2/23 | - | 1 |
3-10491128-G-A | c.100C>T | p.L34F | Missense | 2/23 | - | 1 |
3-10491131-A-G | c.97T>C | p.S33P | Missense | 2/23 | - | 1 |
3-10491132-GCG-CCA | c.94_96delinsTGG | p.R32W | Missense | 2/23 | - | 1 |
3-10491132-GC-TT | c.95_96delinsAA | p.R32Q | Missense | 2/23 | - | 1 |
3-10491133-C-T | c.95G>A | p.R32H | Missense | 2/23 | - | 1 |
3-10491134-G-A | c.94C>T | p.R32C | Missense | 2/23 | - | 7 |
3-10491141-C-G | c.87G>C | p.E29D | Missense | 2/23 | - | 1 |
3-10491143-C-A | c.85G>T | p.E29* | Nonsense | 2/23 | - | 2 |
3-10491146-T-C | c.82A>G | p.M28V | Missense | 2/23 | - | 1 |
3-10491147-T-A | c.81A>T | p.T27= | Synonymous | 2/23 | - | 1 |
3-10491147-T-C | c.81A>G | p.T27= | Synonymous | 2/23 | - | 1 |
3-10491147-T-G | c.81A>C | p.T27= | Synonymous | 2/23 | - | 1 |
3-10491148-G-A | c.80C>T | p.T27I | Missense | 2/23 | - | 1 |
3-10491148-G-T | c.80C>A | p.T27K | Missense | 2/23 | - | 1 |
3-10491149-T-C | c.79A>G | p.T27A | Missense | 2/23 | - | 1 |
3-10491154-C-A | c.74G>T | p.G25V | Missense | 2/23 | - | 1 |
3-10491155-C-G | c.73G>C | p.G25R | Missense | 2/23 | - | 2 |
3-10491155-C-T | c.73G>A | p.G25R | Missense | 2/23 | - | 3 |
3-10491156-G-A | c.72C>T | p.F24= | Synonymous | 2/23 | - | 5 |
3-10491156-G-T | c.72C>A | p.F24L | Missense | 2/23 | - | 2 |
3-10491156-G-C | c.72C>G | p.F24L | Missense | 2/23 | - | 1 |
3-10491158-A-G | c.70T>C | p.F24L | Missense | 2/23 | - | 1 |
3-10491159-C-A | c.69G>T | p.E23D | Missense | 2/23 | - | 1 |
3-10491159-C-G | c.69G>C | p.E23D | Missense | 2/23 | - | 1 |
3-10491161-C-T | c.67G>A | p.E23K | Missense | 2/23 | - | 3 |
3-10491162-G-A | c.66C>T | p.G22= | Synonymous | 2/23 | - | 2 |
3-10491162-G-T | c.66C>A | p.G22= | Synonymous | 2/23 | - | 1 |
3-10491163-C-A | c.65G>T | p.G22V | Missense | 2/23 | - | 1 |
3-10491167-C-G | c.61G>C | p.G21R | Missense | 2/23 | - | 2 |
3-10491167-C-T | c.61G>A | p.G21R | Missense | 2/23 | - | 3 |
3-10491168-A-C | c.60T>G | p.H20Q | Missense | 2/23 | - | 1 |
3-10491168-A-T | c.60T>A | p.H20Q | Missense | 2/23 | - | 1 |
3-10491169-T-A | c.59A>T | p.H20L | Missense | 2/23 | - | 1 |
3-10491169-T-C | c.59A>G | p.H20R | Missense | 2/23 | - | 1 |
3-10491169-T-G | c.59A>C | p.H20P | Missense | 2/23 | - | 1 |
3-10491170-G-C | c.58C>G | p.H20D | Missense | 2/23 | - | 1 |
3-10491170-G-T | c.58C>A | p.H20N | Missense | 2/23 | - | 1 |
3-10491171-G-A | c.57C>T | p.S19= | Synonymous | 2/23 | - | 2 |
3-10491172-C-T | c.56G>A | p.S19N | Missense | 2/23 | - | 2 |
3-10491172-CT-AG | c.55_56inv | p.S19L | Missense | 2/23 | - | 1 |
3-10491174-C-A | c.54G>T | p.S18= | Synonymous | 2/23 | - | 1 |
3-10491174-C-G | c.54G>C | p.S18= | Synonymous | 2/23 | - | 1 |
3-10491174-C-T | c.54G>A | p.S18= | Synonymous | 2/23 | - | 2 |
3-10491175-G-A | c.53C>T | p.S18L | Missense | 2/23 | - | 2 |
3-10491175-G-C | c.53C>G | p.S18W | Missense | 2/23 | - | 1 |
3-10491179-C-T | c.49G>A | p.E17K | Missense | 2/23 | - | 2 |
3-10491183-T-C | c.45A>G | p.R15= | Synonymous | 2/23 | - | 1 |
3-10491184-C-G | c.44G>C | p.R15T | Missense | 2/23 | - | 1 |
3-10491184-C-T | c.44G>A | p.R15K | Missense | 2/23 | - | 1 |
3-10491184-CT-TG | c.43_44delinsCA | p.R15Q | Missense | 2/23 | - | 2 |
3-10491189-G-C | c.39C>G | p.N13K | Missense | 2/23 | - | 1 |
3-10491189-G-T | c.39C>A | p.N13K | Missense | 2/23 | - | 1 |
3-10491190-T-A | c.38A>T | p.N13I | Missense | 2/23 | - | 1 |
3-10491190-T-G | c.38A>C | p.N13T | Missense | 2/23 | - | 1 |
3-10491191-T-C | c.37A>G | p.N13D | Missense | 2/23 | - | 4 |
3-10491193-T-C | c.35A>G | p.K12R | Missense | 2/23 | - | 1 |
3-10491197-A-C | c.31T>G | p.S11A | Missense | 2/23 | - | 1 |
3-10491199-T-C | c.29A>G | p.Y10C | Missense | 2/23 | - | 2 |
3-10491201-A-C | c.27T>G | p.F9L | Missense | 2/23 | - | 1 |
3-10491206-C-T | c.22G>A | p.D8N | Missense | 2/23 | - | 2 |
3-10491207-G-C | c.21C>G | p.S7R | Missense | 2/23 | - | 1 |
3-10491207-G-T | c.21C>A | p.S7R | Missense | 2/23 | - | 2 |
3-10491209-T-G | c.19A>C | p.S7R | Missense | 2/23 | - | 1 |
3-10491208-C-T | c.20G>A | p.S7N | Missense | 2/23 | - | 1 |
3-10491210-G-A | c.18C>T | p.N6= | Synonymous | 2/23 | - | 1 |
3-10491213-G-A | c.15C>T | p.T5= | Synonymous | 2/23 | - | 1 |
3-10491213-G-C | c.15C>G | p.T5= | Synonymous | 2/23 | - | 1 |
3-10491213-GG-CT | c.14_15delinsAG | p.T5K | Missense | 2/23 | - | 1 |
3-10491213-G-T | c.15C>A | p.T5= | Synonymous | 2/23 | - | 1 |
3-10491214-G-A | c.14C>T | p.T5I | Missense | 2/23 | - | 1 |
3-10491215-T-C | c.13A>G | p.T5A | Missense | 2/23 | - | 1 |
3-10491216-C-A | c.12G>T | p.M4I | Missense | 2/23 | - | 1 |
3-10491216-C-G | c.12G>C | p.M4I | Missense | 2/23 | - | 2 |
3-10491216-C-T | c.12G>A | p.M4I | Missense | 2/23 | - | 2 |
3-10491218-T-C | c.10A>G | p.M4V | Missense | 2/23 | - | 2 |
3-10491222-A-T | c.6T>A | p.G2= | Synonymous | 2/23 | - | 1 |
3-10491223-C-G | c.5G>C | p.G2A | Missense | 2/23 | - | 1 |
3-10491223-C-T | c.5G>A | p.G2D | Missense | 2/23 | - | 1 |
3-10499996-G-A | c.-319-8450C>T | - | IntronicSNV | - | 1/22 | 1 |
3-10499996-G-C | c.-319-8450C>G | - | IntronicSNV | - | 1/22 | 1 |
3-10503613-G-A | c.-319-12067C>T | - | IntronicSNV | - | 1/22 | 1 |
3-10508495-T-C | c.-319-16949A>G | - | IntronicSNV | - | 1/22 | 1 |
3-10509477-G-A | c.-319-17931C>T | - | IntronicSNV | - | 1/22 | 1 |
3-10515719-G-A | c.-319-24173C>T | - | IntronicSNV | - | 1/22 | 1 |
3-10523809-C-T | c.-320+23340G>A | - | intron_variant | - | 1/22 | 1 |
3-10526392-C-T | c.-320+20757G>A | - | intron_variant | - | 1/22 | 1 |
3-10526396-G-A | c.-320+20753C>T | - | intron_variant | - | 1/22 | 1 |
3-10529075-C-T | c.-320+18074G>A | - | intron_variant | - | 1/22 | 1 |
3-10532372-C-G | c.-320+14777G>C | - | intron_variant | - | 1/22 | 1 |
3-10532372-C-T | c.-320+14777G>A | - | intron_variant | - | 1/22 | 1 |
3-10546197-C-T | c.-320+952G>A | - | intron_variant | - | 1/22 | 2 |