ATP2B2

ATP2B2 ATPase plasma membrane Ca2+ transporting 2

Annotation transcript: NM_001001331.4

1934 unique variant annotations were identified in 538 publications

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