Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
15-65674177-G-A | c.*2170C>T | - | 3-UTRSNV | 20/20 | - | 3 |
15-65675251-C-A | c.*1096G>T | - | 3-UTRSNV | 20/20 | - | 3 |
15-65675251-C-T | c.*1096G>A | - | 3-UTRSNV | 20/20 | - | 3 |
15-65675451-G-A | c.*896C>T | - | 3-UTRSNV | 20/20 | - | 1 |
15-65675582-A-G | c.*765T>C | - | 3-UTRSNV | 20/20 | - | 1 |
15-65675670-G-A | c.*677C>T | - | 3-UTRSNV | 20/20 | - | 1 |
15-65676357-G-A | c.3743C>T | p.S1248F | Missense | 20/20 | - | 1 |
15-65676363-A-C | c.3737T>G | p.V1246G | Missense | 20/20 | - | 1 |
15-65676364-C-T | c.3736G>A | p.V1246I | Missense | 20/20 | - | 1 |
15-65676368-G-A | c.3732C>T | p.S1244= | Synonymous | 20/20 | - | 1 |
15-65676369-G-A | c.3731C>T | p.S1244F | Missense | 20/20 | - | 5 |
15-65676375-G-A | c.3725C>T | p.P1242L | Missense | 20/20 | - | 1 |
15-65676376-G-C | c.3724C>G | p.P1242A | Missense | 20/20 | - | 1 |
15-65676377-C-A | c.3723G>T | p.L1241= | Synonymous | 20/20 | - | 1 |
15-65676377-C-G | c.3723G>C | p.L1241= | Synonymous | 20/20 | - | 1 |
15-65676377-C-T | c.3723G>A | p.L1241= | Synonymous | 20/20 | - | 1 |
15-65676379-G-A | c.3721C>T | p.L1241= | Synonymous | 20/20 | - | 3 |
15-65676380-G-A | c.3720C>T | p.G1240= | Synonymous | 20/20 | - | 1 |
15-65676382-C-T | c.3718G>A | p.G1240S | Missense | 20/20 | - | 4 |
15-65676385-G-A | c.3715C>T | p.P1239S | Missense | 20/20 | - | 6 |
15-65676387-C-A | c.3713G>T | p.S1238I | Missense | 20/20 | - | 1 |
15-65676389-G-A | c.3711C>T | p.A1237= | Synonymous | 20/20 | - | 1 |
15-65676390-G-T | c.3710C>A | p.A1237D | Missense | 20/20 | - | 2 |
15-65676394-C-G | c.3706G>C | p.G1236R | Missense | 20/20 | - | 1 |
15-65676394-C-T | c.3706G>A | p.G1236R | Missense | 20/20 | - | 1 |
15-65676400-G-A | c.3700C>T | p.P1234S | Missense | 20/20 | - | 4 |
15-65676406-G-A | c.3694C>T | p.P1232S | Missense | 20/20 | - | 6 |
15-65676407-G-A | c.3693C>T | p.S1231= | Synonymous | 20/20 | - | 3 |
15-65676408-G-A | c.3692C>T | p.S1231F | Missense | 20/20 | - | 2 |
15-65676412-T-A | c.3688A>T | p.K1230* | Nonsense | 20/20 | - | 1 |
15-65676425-A-G | c.3675T>C | p.D1225= | Synonymous | 20/20 | - | 1 |
15-65676427-C-T | c.3673G>A | p.D1225N | Missense | 20/20 | - | 1 |
15-65676429-C-T | c.3671G>A | p.G1224E | Missense | 20/20 | - | 2 |
15-65676430-C-T | c.3670G>A | p.G1224R | Missense | 20/20 | - | 1 |
15-65676433-G-A | c.3667C>T | p.P1223S | Missense | 20/20 | - | 1 |
15-65676435-G-A | c.3665C>T | p.T1222I | Missense | 20/20 | - | 1 |
15-65676435-G-C | c.3665C>G | p.T1222S | Missense | 20/20 | - | 1 |
15-65676435-G-T | c.3665C>A | p.T1222N | Missense | 20/20 | - | 1 |
15-65676437-C-T | c.3663G>A | p.E1221= | Synonymous | 20/20 | - | 1 |
15-65676440-C-T | c.3660G>A | p.E1220= | Synonymous | 20/20 | - | 2 |
15-65676456-G-A | c.3644C>T | p.P1215L | Missense | 20/20 | - | 1 |
15-65676456-G-T | c.3644C>A | p.P1215Q | Missense | 20/20 | - | 1 |
15-65676464-G-A | c.3636C>T | p.D1212= | Synonymous | 20/20 | - | 1 |
15-65676466-C-A | c.3634G>T | p.D1212Y | Missense | 20/20 | - | 1 |
15-65676466-C-T | c.3634G>A | p.D1212N | Missense | 20/20 | - | 1 |
15-65676468-G-A | c.3632C>T | p.P1211L | Missense | 20/20 | - | 2 |
15-65676468-G-C | c.3632C>G | p.P1211R | Missense | 20/20 | - | 1 |
15-65676473-G-A | c.3627C>T | p.S1209= | Synonymous | 20/20 | - | 1 |
15-65676473-G-C | c.3627C>G | p.S1209= | Synonymous | 20/20 | - | 1 |
15-65676473-G-T | c.3627C>A | p.S1209= | Synonymous | 20/20 | - | 1 |
15-65676480-G-A | c.3620C>T | p.S1207F | Missense | 20/20 | - | 2 |
15-65676485-A-C | c.3615T>G | p.S1205R | Missense | 20/20 | - | 1 |
15-65676517-C-A | c.3583G>T | p.D1195Y | Missense | 20/20 | - | 2 |
15-65676517-C-G | c.3583G>C | p.D1195H | Missense | 20/20 | - | 1 |
15-65676521-CCC-GCT | c.3577_3579delinsAGC | p.G1193S | Missense | 20/20 | - | 2 |
15-65676522-C-T | c.3578G>A | p.G1193E | Missense | 20/20 | - | 1 |
15-65676520-G-GC | c.3579dup | p.P1194Afs*33 | Frameshift | 20/20 | - | 1 |
15-65676523-C-G | c.3577G>C | p.G1193R | Missense | 20/20 | - | 1 |
15-65676523-C-T | c.3577G>A | p.G1193R | Missense | 20/20 | - | 1 |
15-65676524-G-A | c.3576C>T | p.P1192= | Synonymous | 20/20 | - | 1 |
15-65676526-G-C | c.3574C>G | p.P1192A | Missense | 20/20 | - | 2 |
15-65676523-C-CG | c.3576dup | p.G1193Rfs*34 | Frameshift | 20/20 | - | 1 |
15-65676528-G-A | c.3572C>T | p.A1191V | Missense | 20/20 | - | 3 |
15-65676531-G-C | c.3569C>G | p.A1190G | Missense | 20/20 | - | 3 |
15-65676533-C-G | c.3567G>C | p.L1189= | Synonymous | 20/20 | - | 1 |
15-65676534-A-T | c.3566T>A | p.L1189Q | Missense | 20/20 | - | 1 |
15-65676535-G-T | c.3565C>A | p.L1189M | Missense | 20/20 | - | 1 |
15-65676537-T-C | c.3563A>G | p.E1188G | Missense | 20/20 | - | 1 |
15-65676546-C-T | c.3554G>A | p.G1185E | Missense | 20/20 | - | 1 |
15-65676548-C-A | c.3552G>T | p.L1184F | Missense | 20/20 | - | 2 |
15-65676553-C-T | c.3547G>A | p.E1183K | Missense | 20/20 | - | 1 |
15-65676573-C-T | c.3527G>A | p.G1176E | Missense | 20/20 | - | 2 |
15-65676576-T-C | c.3524A>G | p.Q1175R | Missense | 20/20 | - | 1 |
15-65676595-C-T | c.3505G>A | p.G1169S | Missense | 20/20 | - | 1 |
15-65676596-C-A | c.3504G>T | p.S1168= | Synonymous | 20/20 | - | 1 |
15-65676596-C-G | c.3504G>C | p.S1168= | Synonymous | 20/20 | - | 1 |
15-65676596-C-T | c.3504G>A | p.S1168= | Synonymous | 20/20 | - | 1 |
15-65676597-G-A | c.3503C>T | p.S1168L | Missense | 20/20 | - | 1 |
15-65676599-G-A | c.3501C>T | p.I1167= | Synonymous | 20/20 | - | 1 |
15-65676599-G-T | c.3501C>A | p.I1167= | Synonymous | 20/20 | - | 1 |
15-65676601-T-G | c.3499A>C | p.I1167L | Missense | 20/20 | - | 1 |
15-65676606-T-A | c.3494A>T | p.D1165V | Missense | 20/20 | - | 1 |
15-65676606-T-C | c.3494A>G | p.D1165G | Missense | 20/20 | - | 1 |
15-65676607-C-T | c.3493G>A | p.D1165N | Missense | 20/20 | - | 1 |
15-65676610-G-A | c.3490C>T | p.P1164S | Missense | 20/20 | - | 1 |
15-65676610-G-T | c.3490C>A | p.P1164T | Missense | 20/20 | - | 3 |
15-65676617-T-A | c.3483A>T | p.P1161= | Synonymous | 20/20 | - | 1 |
15-65676617-T-C | c.3483A>G | p.P1161= | Synonymous | 20/20 | - | 17 |
15-65676617-T-G | c.3483A>C | p.P1161= | Synonymous | 20/20 | - | 12 |
15-65676618-G-A | c.3482C>T | p.P1161L | Missense | 20/20 | - | 2 |
15-65676618-G-T | c.3482C>A | p.P1161Q | Missense | 20/20 | - | 1 |
15-65676627-G-A | c.3473C>T | p.P1158L | Missense | 20/20 | - | 3 |
15-65676637-G-T | c.3463C>A | p.P1155T | Missense | 20/20 | - | 3 |
15-65676640-C-T | c.3460G>A | p.E1154K | Missense | 20/20 | - | 1 |
15-65676650-G-A | c.3450C>T | p.L1150= | Synonymous | 20/20 | - | 1 |
15-65676652-G-C | c.3448C>G | p.L1150V | Missense | 20/20 | - | 1 |
15-65676654-T-C | c.3446A>G | p.H1149R | Missense | 20/20 | - | 1 |
15-65676656-G-A | c.3444C>T | p.L1148= | Synonymous | 20/20 | - | 1 |
15-65676659-G-C | c.3441C>G | p.D1147E | Missense | 20/20 | - | 1 |
15-65676659-G-T | c.3441C>A | p.D1147E | Missense | 20/20 | - | 1 |
15-65676675-G-C | c.3425C>G | p.S1142C | Missense | 20/20 | - | 1 |
15-65676679-C-A | c.3421G>T | p.A1141S | Missense | 20/20 | - | 1 |
15-65676690-G-C | c.3410C>G | p.S1137C | Missense | 20/20 | - | 1 |
15-65676697-C-A | c.3403G>T | p.V1135F | Missense | 20/20 | - | 1 |
15-65676706-C-A | c.3394G>T | p.E1132* | Nonsense | 20/20 | - | 3 |
15-65676707-A-G | c.3393T>C | p.A1131= | Synonymous | 20/20 | - | 1 |
15-65676715-C-T | c.3385G>A | p.V1129M | Missense | 20/20 | - | 2 |
15-65676722-C-T | c.3378G>A | p.R1126= | Synonymous | 20/20 | - | 1 |
15-65676724-T-G | c.3376A>C | p.R1126= | Synonymous | 20/20 | - | 1 |
15-65676726-C-T | c.3374G>A | p.C1125Y | Missense | 20/20 | - | 17 |
15-65676728-G-A | c.3372C>T | p.A1124= | Synonymous | 20/20 | - | 1 |
15-65676728-G-C | c.3372C>G | p.A1124= | Synonymous | 20/20 | - | 1 |
15-65676728-G-T | c.3372C>A | p.A1124= | Synonymous | 20/20 | - | 1 |
15-65676730-C-G | c.3370G>C | p.A1124P | Missense | 20/20 | - | 1 |
15-65676733-G-T | c.3367C>A | p.P1123T | Missense | 20/20 | - | 1 |
15-65676731-TG-T | c.3368del | p.P1123Qfs*97 | Frameshift | 20/20 | - | 1 |
15-65676739-A-G | c.3361T>C | p.S1121P | Missense | 20/20 | - | 2 |
15-65676747-C-T | c.3353G>A | p.R1118K | Missense | 20/20 | - | 2 |
15-65677230-TCCTCTTCACAAGCACAGAGACCCTTTCCTCCTTTCCTG-T | c.3342+24_3342+61del | - | IntronicDeletion | - | 19/19 | 1 |
15-65677292-C-A | c.3342G>T | p.K1114N | Missense | 19/20 | - | 1 |
15-65677303-C-A | c.3331G>T | p.D1111Y | Missense | 19/20 | - | 1 |
15-65677303-C-T | c.3331G>A | p.D1111N | Missense | 19/20 | - | 1 |
15-65677309-C-T | c.3325G>A | p.V1109M | Missense | 19/20 | - | 1 |
15-65677310-C-A | c.3324G>T | p.L1108= | Synonymous | 19/20 | - | 1 |
15-65677310-C-G | c.3324G>C | p.L1108= | Synonymous | 19/20 | - | 1 |
15-65677310-C-T | c.3324G>A | p.L1108= | Synonymous | 19/20 | - | 1 |
15-65677312-G-A | c.3322C>T | p.L1108= | Synonymous | 19/20 | - | 1 |
15-65677328-C-A | c.3306G>T | p.T1102= | Synonymous | 19/20 | - | 1 |
15-65677328-C-T | c.3306G>A | p.T1102= | Synonymous | 19/20 | - | 1 |
15-65677330-T-C | c.3304A>G | p.T1102A | Missense | 19/20 | - | 1 |
15-65677333-G-A | c.3301C>T | p.Q1101* | Nonsense | 19/20 | - | 2 |
15-65677336-C-T | c.3298G>A | p.G1100R | Missense | 19/20 | - | 3 |
15-65677340-TCC-GCT | c.3292_3294delinsAGC | p.G1098S | Missense | 19/20 | - | 1 |
15-65677341-C-A | c.3293G>T | p.G1098V | Missense | 19/20 | - | 1 |
15-65677344-G-A | c.3290C>T | p.A1097V | Missense | 19/20 | - | 1 |
15-65677345-C-CG | c.3288_3289insC | p.A1097Rfs*36 | Frameshift | 19/20 | - | 1 |
15-65677345-C-T | c.3289G>A | p.A1097T | Missense | 19/20 | - | 1 |
15-65677349-G-A | c.3285C>T | p.P1095= | Synonymous | 19/20 | - | 1 |
15-65677350-G-T | c.3284C>A | p.P1095H | Missense | 19/20 | - | 3 |
15-65677351-G-A | c.3283C>T | p.P1095S | Missense | 19/20 | - | 2 |
15-65677351-G-T | c.3283C>A | p.P1095T | Missense | 19/20 | - | 1 |
15-65677360-C-T | c.3274G>A | p.A1092T | Missense | 19/20 | - | 1 |
15-65677371-G-C | c.3263C>G | p.A1088G | Missense | 19/20 | - | 1 |
15-65677373-C-A | c.3261G>T | p.P1087= | Synonymous | 19/20 | - | 1 |
15-65677374-G-C | c.3260C>G | p.P1087R | Missense | 19/20 | - | 1 |
15-65677374-G-T | c.3260C>A | p.P1087Q | Missense | 19/20 | - | 1 |
15-65677376-CCG-ACA | c.3256_3258delinsTGT | p.R1086C | Missense | 19/20 | - | 2 |
15-65677377-C-T | c.3257G>A | p.R1086Q | Missense | 19/20 | - | 1 |
15-65677378-G-A | c.3256C>T | p.R1086W | Missense | 19/20 | - | 1 |
15-65677380-G-T | c.3254C>A | p.P1085H | Missense | 19/20 | - | 1 |
15-65677377-CG-C | c.3256del | p.R1086Gfs*4 | Frameshift | 19/20 | - | 1 |
15-65677382-GC-G | c.3251del | p.G1084Afs*6 | Frameshift | 19/20 | - | 1 |
15-65677384-C-T | c.3250G>A | p.G1084S | Missense | 19/20 | - | 1 |
15-65677385-T-A | c.3249A>T | p.A1083= | Synonymous | 19/20 | - | 1 |
15-65677385-T-C | c.3249A>G | p.A1083= | Synonymous | 19/20 | - | 1 |
15-65677385-T-G | c.3249A>C | p.A1083= | Synonymous | 19/20 | - | 1 |
15-65677386-G-A | c.3248C>T | p.A1083V | Missense | 19/20 | - | 1 |
15-65677389-T-A | c.3245A>T | p.Q1082L | Missense | 19/20 | - | 1 |
15-65677390-G-T | c.3244C>A | p.Q1082K | Missense | 19/20 | - | 1 |
15-65677391-G-A | c.3243C>T | p.P1081= | Synonymous | 19/20 | - | 1 |
15-65677420-C-G | c.3214G>C | p.A1072P | Missense | 19/20 | - | 1 |
15-65677422-C-A | c.3212G>T | p.W1071L | Missense | 19/20 | - | 1 |
15-65677430-CC-GT | c.3203_3204delinsAC | p.G1068D | Missense | 19/20 | - | 1 |
15-65677432-C-T | c.3202G>A | p.G1068R | Missense | 19/20 | - | 1 |
15-65677433-G-C | c.3201C>G | p.S1067R | Missense | 19/20 | - | 1 |
15-65677433-G-T | c.3201C>A | p.S1067R | Missense | 19/20 | - | 1 |
15-65677435-T-G | c.3199A>C | p.S1067R | Missense | 19/20 | - | 1 |
15-65677446-C-A | c.3188G>T | p.W1063L | Missense | 19/20 | - | 3 |
15-65677448-G-A | c.3186C>T | p.S1062= | Synonymous | 19/20 | - | 1 |
15-65677448-G-C | c.3186C>G | p.S1062= | Synonymous | 19/20 | - | 1 |
15-65677448-G-T | c.3186C>A | p.S1062= | Synonymous | 19/20 | - | 1 |
15-65677451-G-T | c.3183C>A | p.I1061= | Synonymous | 19/20 | - | 1 |
15-65678115-T-A | c.3180+54A>T | - | IntronicSNV | - | 18/19 | 1 |
15-65678141-A-T | c.3180+28T>A | - | IntronicSNV | - | 18/19 | 9 |
15-65678177-T-C | c.3172A>G | p.K1058E | Missense | 18/20 | - | 3 |
15-65678182-T-A | c.3167A>T | p.H1056L | Missense | 18/20 | - | 1 |
15-65678183-G-T | c.3166C>A | p.H1056N | Missense | 18/20 | - | 1 |
15-65678206-C-T | c.3143G>A | p.G1048D | Missense | 18/20 | - | 1 |
15-65678205-GCCACC-G | c.3139_3143del | p.G1047Rfs*4 | Frameshift | 18/20 | - | 1 |
15-65678210-C-G | c.3139G>C | p.G1047R | Missense | 18/20 | - | 1 |
15-65678233-C-T | c.3116G>A | p.R1039K | Missense | 18/20 | - | 1 |
15-65678235-G-C | c.3114C>G | p.D1038E | Missense | 18/20 | - | 2 |
15-65678235-G-T | c.3114C>A | p.D1038E | Missense | 18/20 | - | 3 |
15-65678247-T-A | c.3102A>T | p.S1034= | Synonymous | 18/20 | - | 1 |
15-65678247-T-C | c.3102A>G | p.S1034= | Synonymous | 18/20 | - | 1 |
15-65678247-T-G | c.3102A>C | p.S1034= | Synonymous | 18/20 | - | 1 |
15-65678250-G-A | c.3099C>T | p.P1033= | Synonymous | 18/20 | - | 1 |
15-65678250-G-C | c.3099C>G | p.P1033= | Synonymous | 18/20 | - | 1 |
15-65678250-G-T | c.3099C>A | p.P1033= | Synonymous | 18/20 | - | 1 |
15-65678257-G-A | c.3092C>T | p.P1031L | Missense | 18/20 | - | 1 |
15-65678268-C-A | c.3081G>T | p.Q1027H | Missense | 18/20 | - | 1 |
15-65678268-C-G | c.3081G>C | p.Q1027H | Missense | 18/20 | - | 1 |
15-65678270-G-A | c.3079C>T | p.Q1027* | Nonsense | 18/20 | - | 2 |
15-65678271-G-A | c.3078C>T | p.P1026= | Synonymous | 18/20 | - | 2 |
15-65678272-G-A | c.3077C>T | p.P1026L | Missense | 18/20 | - | 2 |
15-65678275-TG-T | c.3073del | p.H1025Ifs*45 | Frameshift | 18/20 | - | 1 |
15-65678285-C-A | c.3064G>T | p.V1022L | Missense | 18/20 | - | 1 |
15-65678285-C-G | c.3064G>C | p.V1022L | Missense | 18/20 | - | 1 |
15-65678288-G-C | c.3061C>G | p.L1021V | Missense | 18/20 | - | 1 |
15-65678289-G-A | c.3060C>T | p.S1020= | Synonymous | 18/20 | - | 1 |
15-65678290-G-A | c.3059C>T | p.S1020F | Missense | 18/20 | - | 1 |
15-65678291-A-C | c.3058T>G | p.S1020A | Missense | 18/20 | - | 1 |
15-65678293-T-C | c.3056A>G | p.E1019G | Missense | 18/20 | - | 1 |
15-65678295-C-A | c.3054G>T | p.L1018F | Missense | 18/20 | - | 1 |
15-65678295-C-G | c.3054G>C | p.L1018F | Missense | 18/20 | - | 1 |
15-65678302-T-G | c.3047A>C | p.H1016P | Missense | 18/20 | - | 3 |
15-65678303-G-A | c.3046C>T | p.H1016Y | Missense | 18/20 | - | 1 |
15-65678309-C-T | c.3040G>A | p.A1014T | Missense | 18/20 | - | 3 |
15-65678311-G-A | c.3038C>T | p.P1013L | Missense | 18/20 | - | 1 |
15-65678313-G-A | c.3036C>T | p.P1012= | Synonymous | 18/20 | - | 1 |
15-65678313-G-C | c.3036C>G | p.P1012= | Synonymous | 18/20 | - | 1 |
15-65678313-G-T | c.3036C>A | p.P1012= | Synonymous | 18/20 | - | 1 |
15-65678314-G-A | c.3035C>T | p.P1012L | Missense | 18/20 | - | 1 |
15-65678316-G-C | c.3033C>G | p.S1011R | Missense | 18/20 | - | 1 |
15-65678316-G-T | c.3033C>A | p.S1011R | Missense | 18/20 | - | 1 |
15-65678318-CT-C | c.3031del | p.S1011Afs*59 | Frameshift | 18/20 | - | 2 |
15-65678318-T-G | c.3031A>C | p.S1011R | Missense | 18/20 | - | 2 |
15-65678318-T-TA | c.3030_3031insT | p.S1011* | Nonsense | 18/20 | - | 1 |
15-65678321-G-T | c.3028C>A | p.P1010T | Missense | 18/20 | - | 1 |
15-65678324-G-C | c.3025C>G | p.P1009A | Missense | 18/20 | - | 1 |
15-65678318-TG-T | c.3030del | p.S1011Afs*59 | Frameshift | 18/20 | - | 3 |
15-65678325-GCC-CCA | c.3022_3024delinsTGG | p.G1008W | Missense | 18/20 | - | 1 |
15-65678327-C-A | c.3022G>T | p.G1008C | Missense | 18/20 | - | 2 |
15-65678327-C-CA | c.3021dup | p.G1008Wfs*10 | Frameshift | 18/20 | - | 1 |
15-65678331-C-T | c.3018G>A | p.R1006= | Synonymous | 18/20 | - | 3 |
15-65678331-C-A | c.3018G>T | p.R1006= | Synonymous | 18/20 | - | 1 |
15-65678331-C-G | c.3018G>C | p.R1006= | Synonymous | 18/20 | - | 1 |
15-65678333-G-A | c.3016C>T | p.R1006W | Missense | 18/20 | - | 1 |
15-65678333-G-T | c.3016C>A | p.R1006= | Synonymous | 18/20 | - | 1 |
15-65678341-G-A | c.3008C>T | p.S1003F | Missense | 18/20 | - | 1 |
15-65678341-G-C | c.3008C>G | p.S1003C | Missense | 18/20 | - | 1 |
15-65678343-G-A | c.3006C>T | p.Y1002= | Synonymous | 18/20 | - | 1 |
15-65678350-G-T | c.2999C>A | p.A1000E | Missense | 18/20 | - | 1 |
15-65678360-C-CCG | c.2988_2989insCG | p.G997Rfs*74 | Frameshift | 18/20 | - | 1 |
15-65678360-C-CCT | c.2988_2989insAG | p.G997Rfs*74 | Frameshift | 18/20 | - | 2 |
15-65678363-G-C | c.2986C>G | p.P996A | Missense | 18/20 | - | 1 |
15-65678369-C-T | c.2980G>A | p.A994T | Missense | 18/20 | - | 3 |
15-65678374-G-A | c.2975C>T | p.S992F | Missense | 18/20 | - | 2 |
15-65678381-G-A | c.2968C>T | p.L990= | Synonymous | 18/20 | - | 1 |
15-65678382-G-A | c.2967C>T | p.G989= | Synonymous | 18/20 | - | 1 |
15-65678382-G-C | c.2967C>G | p.G989= | Synonymous | 18/20 | - | 1 |
15-65678382-G-T | c.2967C>A | p.G989= | Synonymous | 18/20 | - | 1 |
15-65678384-C-T | c.2965G>A | p.G989S | Missense | 18/20 | - | 1 |
15-65678392-G-A | c.2957C>T | p.S986F | Missense | 18/20 | - | 3 |
15-65678395-T-A | c.2954A>T | p.E985V | Missense | 18/20 | - | 2 |
15-65678449-C-T | c.2952-52G>A | - | IntronicSNV | - | 17/19 | 1 |
15-65678901-C-T | c.2939G>A | p.R980H | Missense | 17/20 | - | 4 |
15-65678903-GCG-TCA | c.2935_2937delinsTGA | p.R979* | Nonsense | 17/20 | - | 1 |
15-65678904-C-T | c.2936G>A | p.R979H | Missense | 17/20 | - | 2 |
15-65678913-G-A | c.2927C>T | p.A976V | Missense | 17/20 | - | 1 |
15-65678913-G-T | c.2927C>A | p.A976D | Missense | 17/20 | - | 1 |
15-65678914-C-T | c.2926G>A | p.A976T | Missense | 17/20 | - | 1 |
15-65678918-C-T | c.2922G>A | p.M974I | Missense | 17/20 | - | 1 |
15-65678922-C-T | c.2918G>A | p.C973Y | Missense | 17/20 | - | 1 |
15-65678930-G-A | c.2910C>T | p.L970= | Synonymous | 17/20 | - | 1 |
15-65678930-G-C | c.2910C>G | p.L970= | Synonymous | 17/20 | - | 1 |
15-65678930-G-T | c.2910C>A | p.L970= | Synonymous | 17/20 | - | 1 |
15-65678932-G-A | c.2908C>T | p.L970F | Missense | 17/20 | - | 1 |
15-65678934-CA-GT | c.2905_2906delinsAC | p.C969T | Missense | 17/20 | - | 1 |
15-65678941-G-A | c.2899C>T | p.L967F | Missense | 17/20 | - | 1 |
15-65678955-C-T | c.2885G>A | p.G962D | Missense | 17/20 | - | 2 |
15-65678959-C-A | c.2881G>T | p.V961L | Missense | 17/20 | - | 1 |
15-65678959-C-G | c.2881G>C | p.V961L | Missense | 17/20 | - | 1 |
15-65678959-C-T | c.2881G>A | p.V961M | Missense | 17/20 | - | 1 |
15-65678963-G-A | c.2877C>T | p.I959= | Synonymous | 17/20 | - | 1 |
15-65678968-C-T | c.2872G>A | p.G958S | Missense | 17/20 | - | 1 |
15-65678978-G-T | c.2862C>A | p.H954Q | Missense | 17/20 | - | 1 |
15-65680471-A-G | c.2845+316T>C | - | IntronicSNV | - | 16/19 | 1 |
15-65680584-G-A | c.2845+203C>T | - | IntronicSNV | - | 16/19 | 1 |
15-65680584-G-GA | c.2845+202dup | - | IntronicInsertion | - | 16/19 | 1 |
15-65680636-A-G | c.2845+151T>C | - | IntronicSNV | - | 16/19 | 1 |
15-65680683-C-A | c.2845+104G>T | - | IntronicSNV | - | 16/19 | 1 |
15-65680825-C-A | c.2807G>T | p.R936L | Missense | 16/20 | - | 1 |
15-65680825-C-T | c.2807G>A | p.R936H | Missense | 16/20 | - | 2 |
15-65680826-G-A | c.2806C>T | p.R936C | Missense | 16/20 | - | 1 |
15-65680827-G-A | c.2805C>T | p.S935= | Synonymous | 16/20 | - | 1 |
15-65680827-G-C | c.2805C>G | p.S935= | Synonymous | 16/20 | - | 1 |
15-65680827-G-T | c.2805C>A | p.S935= | Synonymous | 16/20 | - | 1 |
15-65680828-G-A | c.2804C>T | p.S935F | Missense | 16/20 | - | 1 |
15-65680830-G-C | c.2802C>G | p.F934L | Missense | 16/20 | - | 2 |
15-65680830-G-T | c.2802C>A | p.F934L | Missense | 16/20 | - | 2 |
15-65680832-A-G | c.2800T>C | p.F934L | Missense | 16/20 | - | 2 |
15-65680837-C-A | c.2795G>T | p.G932V | Missense | 16/20 | - | 1 |
15-65680838-C-G | c.2794G>C | p.G932R | Missense | 16/20 | - | 1 |
15-65680841-G-A | c.2791C>T | p.P931S | Missense | 16/20 | - | 1 |
15-65680846-A-T | c.2786T>A | p.V929E | Missense | 16/20 | - | 1 |
15-65680850-C-A | c.2782G>T | p.E928* | Nonsense | 16/20 | - | 1 |
15-65680850-C-G | c.2782G>C | p.E928Q | Missense | 16/20 | - | 1 |
15-65680852-G-A | c.2780C>T | p.T927I | Missense | 16/20 | - | 1 |
15-65680854-GCG-CTT | c.2776_2778delinsAAG | p.R926K | Missense | 16/20 | - | 1 |
15-65680854-GC-TT | c.2777_2778delinsAA | p.R926Q | Missense | 16/20 | - | 1 |
15-65680855-C-A | c.2777G>T | p.R926L | Missense | 16/20 | - | 2 |
15-65680855-C-T | c.2777G>A | p.R926H | Missense | 16/20 | - | 1 |
15-65680856-G-A | c.2776C>T | p.R926C | Missense | 16/20 | - | 2 |
15-65680857-C-A | c.2775G>T | p.A925= | Synonymous | 16/20 | - | 2 |
15-65680857-C-G | c.2775G>C | p.A925= | Synonymous | 16/20 | - | 2 |
15-65680857-C-T | c.2775G>A | p.A925= | Synonymous | 16/20 | - | 3 |
15-65680858-G-A | c.2774C>T | p.A925V | Missense | 16/20 | - | 1 |
15-65680863-C-A | c.2769G>T | p.M923I | Missense | 16/20 | - | 1 |
15-65680865-T-A | c.2767A>T | p.M923L | Missense | 16/20 | - | 2 |
15-65680865-T-G | c.2767A>C | p.M923L | Missense | 16/20 | - | 1 |
15-65680869-G-A | c.2763C>T | p.F921= | Synonymous | 16/20 | - | 1 |
15-65680880-G-A | c.2752C>T | p.R918W | Missense | 16/20 | - | 6 |
15-65680886-C-T | c.2746G>A | p.D916N | Missense | 16/20 | - | 1 |
15-65680890-C-T | c.2742G>A | p.E914= | Synonymous | 16/20 | - | 1 |
15-65680892-C-T | c.2740G>A | p.E914K | Missense | 16/20 | - | 3 |
15-65680899-A-C | c.2733T>G | p.H911Q | Missense | 16/20 | - | 1 |
15-65680899-A-T | c.2733T>A | p.H911Q | Missense | 16/20 | - | 1 |
15-65680905-C-A | c.2727G>T | p.E909D | Missense | 16/20 | - | 3 |
15-65680905-C-G | c.2727G>C | p.E909D | Missense | 16/20 | - | 2 |
15-65680909-G-A | c.2723C>T | p.A908V | Missense | 16/20 | - | 1 |
15-65680912-C-T | c.2720G>A | p.S907N | Missense | 16/20 | - | 1 |
15-65680914-G-A | c.2718C>T | p.F906= | Synonymous | 16/20 | - | 1 |
15-65681149-G-C | c.2704C>G | p.Q902E | Missense | 15/20 | - | 1 |
15-65681151-G-A | c.2702C>T | p.T901M | Missense | 15/20 | - | 4 |
15-65681154-G-C | c.2699C>G | p.T900S | Missense | 15/20 | - | 1 |
15-65681155-T-A | c.2698A>T | p.T900S | Missense | 15/20 | - | 1 |
15-65681158-G-T | c.2695C>A | p.L899I | Missense | 15/20 | - | 1 |
15-65681159-C-A | c.2694G>T | p.L898F | Missense | 15/20 | - | 1 |
15-65681159-C-G | c.2694G>C | p.L898F | Missense | 15/20 | - | 1 |
15-65681162-G-A | c.2691C>T | p.T897= | Synonymous | 15/20 | - | 1 |
15-65681162-G-C | c.2691C>G | p.T897= | Synonymous | 15/20 | - | 1 |
15-65681162-G-T | c.2691C>A | p.T897= | Synonymous | 15/20 | - | 2 |
15-65681171-G-A | c.2682C>T | p.H894= | Synonymous | 15/20 | - | 1 |
15-65681172-T-C | c.2681A>G | p.H894R | Missense | 15/20 | - | 1 |
15-65681176-C-A | c.2677G>T | p.E893* | Nonsense | 15/20 | - | 1 |
15-65681176-C-T | c.2677G>A | p.E893K | Missense | 15/20 | - | 2 |
15-65681184-G-A | c.2669C>T | p.T890M | Missense | 15/20 | - | 2 |
15-65681185-T-C | c.2668A>G | p.T890A | Missense | 15/20 | - | 1 |
15-65681186-G-A | c.2667C>T | p.H889= | Synonymous | 15/20 | - | 1 |
15-65681196-C-T | c.2657G>A | p.S886N | Missense | 15/20 | - | 1 |
15-65681200-A-G | c.2653T>C | p.Y885H | Missense | 15/20 | - | 1 |
15-65681204-G-A | c.2649C>T | p.I883= | Synonymous | 15/20 | - | 1 |
15-65681218-C-T | c.2635G>A | p.V879M | Missense | 15/20 | - | 3 |
15-65681219-G-A | c.2634C>T | p.I878= | Synonymous | 15/20 | - | 1 |
15-65681219-G-T | c.2634C>A | p.I878= | Synonymous | 15/20 | - | 1 |
15-65681222-C-T | c.2631G>A | p.E877= | Synonymous | 15/20 | - | 1 |
15-65681225-C-A | c.2628G>T | p.G876= | Synonymous | 15/20 | - | 1 |
15-65681225-C-G | c.2628G>C | p.G876= | Synonymous | 15/20 | - | 1 |
15-65681225-C-T | c.2628G>A | p.G876= | Synonymous | 15/20 | - | 1 |
15-65681226-C-T | c.2627G>A | p.G876E | Missense | 15/20 | - | 1 |
15-65681237-T-TG | c.2615dup | p.E873Rfs*21 | Frameshift | 15/20 | - | 1 |
15-65681239-GT-G | c.2614del | p.T872Qfs*11 | Frameshift | 15/20 | - | 4 |
15-65681240-G-A | c.2613C>T | p.P871= | Synonymous | 15/20 | - | 1 |
15-65681240-G-C | c.2613C>G | p.P871= | Synonymous | 15/20 | - | 1 |
15-65681240-G-T | c.2613C>A | p.P871= | Synonymous | 15/20 | - | 1 |
15-65681241-G-A | c.2612C>T | p.P871L | Missense | 15/20 | - | 2 |
15-65681244-G-A | c.2609C>T | p.P870L | Missense | 15/20 | - | 1 |
15-65681239-TGG-T | c.2612_2613del | p.P871Hfs*22 | Frameshift | 15/20 | - | 1 |
15-65681245-G-A | c.2608C>T | p.P870S | Missense | 15/20 | - | 2 |
15-65681239-TG-T | c.2613del | p.T872Qfs*11 | Frameshift | 15/20 | - | 2 |
15-65681239-T-TG | c.2613dup | p.T872Hfs*22 | Frameshift | 15/20 | - | 5 |
15-65681254-G-T | c.2599C>A | p.H867N | Missense | 15/20 | - | 1 |
15-65681260-G-A | c.2593C>T | p.R865W | Missense | 15/20 | - | 2 |
15-65681265-G-T | c.2588C>A | p.T863K | Missense | 15/20 | - | 1 |
15-65681268-G-T | c.2585C>A | p.S862Y | Missense | 15/20 | - | 2 |
15-65681277-AG-TA | c.2575_2576delinsTA | p.L859* | Nonsense | 15/20 | - | 1 |
15-65681280-G-A | c.2573C>T | p.P858L | Missense | 15/20 | - | 2 |
15-65681290-G-A | c.2563C>T | p.R855* | Nonsense | 15/20 | - | 1 |
15-65681297-G-A | c.2556C>T | p.S852= | Synonymous | 15/20 | - | 1 |
15-65681297-G-C | c.2556C>G | p.S852= | Synonymous | 15/20 | - | 1 |
15-65681297-G-T | c.2556C>A | p.S852= | Synonymous | 15/20 | - | 1 |
15-65681298-G-A | c.2555C>T | p.S852F | Missense | 15/20 | - | 2 |
15-65681301-G-A | c.2552C>T | p.P851L | Missense | 15/20 | - | 1 |
15-65681305-G-A | c.2548C>T | p.P850S | Missense | 15/20 | - | 3 |
15-65681307-G-A | c.2546C>T | p.T849I | Missense | 15/20 | - | 1 |
15-65681310-G-A | c.2543C>T | p.S848F | Missense | 15/20 | - | 1 |
15-65681312-G-A | c.2541C>T | p.P847= | Synonymous | 15/20 | - | 1 |
15-65681312-G-T | c.2541C>A | p.P847= | Synonymous | 15/20 | - | 1 |
15-65681620-A-G | c.2536+2T>C | - | IntronicSNV | - | 14/19 | 1 |
15-65681621-C-T | c.2536+1G>A | - | IntronicSNV | - | 14/19 | 2 |
15-65681634-T-G | c.2524A>C | p.T842P | Missense | 14/20 | - | 5 |
15-65681635-G-A | c.2523C>T | p.S841= | Synonymous | 14/20 | - | 1 |
15-65681638-G-A | c.2520C>T | p.R840= | Synonymous | 14/20 | - | 1 |
15-65681639-C-T | c.2519G>A | p.R840H | Missense | 14/20 | - | 2 |
15-65681644-C-T | c.2514G>A | p.V838= | Synonymous | 14/20 | - | 1 |
15-65681655-C-T | c.2503G>A | p.G835S | Missense | 14/20 | - | 3 |
15-65681656-G-A | c.2502C>T | p.F834= | Synonymous | 14/20 | - | 2 |
15-65681661-G-A | c.2497C>T | p.P833S | Missense | 14/20 | - | 1 |
15-65681667-C-T | c.2491G>A | p.D831N | Missense | 14/20 | - | 1 |
15-65681676-C-T | c.2482G>A | p.V828M | Missense | 14/20 | - | 1 |
15-65681677-G-A | c.2481C>T | p.G827= | Synonymous | 14/20 | - | 4 |
15-65681677-G-C | c.2481C>G | p.G827= | Synonymous | 14/20 | - | 3 |
15-65681677-G-T | c.2481C>A | p.G827= | Synonymous | 14/20 | - | 3 |
15-65681681-T-C | c.2477A>G | p.H826R | Missense | 14/20 | - | 3 |
15-65681691-C-T | c.2467G>A | p.V823M | Missense | 14/20 | - | 1 |
15-65681694-C-T | c.2464G>A | p.A822T | Missense | 14/20 | - | 2 |
15-65681696-A-G | c.2462T>C | p.F821S | Missense | 14/20 | - | 1 |
15-65681700-C-A | c.2458G>T | p.E820* | Nonsense | 14/20 | - | 2 |
15-65681724-C-T | c.2434G>A | p.G812S | Missense | 14/20 | - | 4 |
15-65681731-G-A | c.2427C>T | p.L809= | Synonymous | 14/20 | - | 1 |
15-65681731-G-C | c.2427C>G | p.L809= | Synonymous | 14/20 | - | 1 |
15-65681731-G-T | c.2427C>A | p.L809= | Synonymous | 14/20 | - | 2 |
15-65681739-C-A | c.2419G>T | p.D807Y | Missense | 14/20 | - | 1 |
15-65681739-C-G | c.2419G>C | p.D807H | Missense | 14/20 | - | 1 |
15-65681743-TCC-GCT | c.2413_2415delinsAGC | p.G805S | Missense | 14/20 | - | 1 |
15-65681747-G-C | c.2411C>G | p.S804C | Missense | 14/20 | - | 1 |
15-65681801-G-A | c.2409-52C>T | - | IntronicSNV | - | 13/19 | 2 |
15-65682425-C-T | c.2408+68G>A | - | IntronicSNV | - | 13/19 | 1 |
15-65682448-T-A | c.2408+45A>T | - | IntronicSNV | - | 13/19 | 1 |
15-65682489-C-T | c.2408+4G>A | - | IntronicSNV | - | 13/19 | 1 |
15-65682492-C-A | c.2408+1G>T | - | IntronicSNV | - | 13/19 | 1 |
15-65682493-C-A | c.2408G>T | p.S803I | Missense | 13/20 | - | 1 |
15-65682494-T-A | c.2407A>T | p.S803C | Missense | 13/20 | - | 2 |
15-65682494-T-G | c.2407A>C | p.S803R | Missense | 13/20 | - | 1 |
15-65682496-G-A | c.2405C>T | p.T802I | Missense | 13/20 | - | 3 |
15-65682502-T-G | c.2399A>C | p.Y800S | Missense | 13/20 | - | 1 |
15-65682508-A-G | c.2393T>C | p.V798A | Missense | 13/20 | - | 1 |
15-65682510-C-A | c.2391G>T | p.L797= | Synonymous | 13/20 | - | 1 |
15-65682510-C-G | c.2391G>C | p.L797= | Synonymous | 13/20 | - | 1 |
15-65682510-C-T | c.2391G>A | p.L797= | Synonymous | 13/20 | - | 1 |
15-65682512-G-A | c.2389C>T | p.L797= | Synonymous | 13/20 | - | 1 |
15-65682523-C-T | c.2378G>A | p.R793K | Missense | 13/20 | - | 1 |
15-65682530-C-A | c.2371G>T | p.G791W | Missense | 13/20 | - | 1 |
15-65682534-G-C | c.2367C>G | p.P789= | Synonymous | 13/20 | - | 1 |
15-65682535-G-A | c.2366C>T | p.P789L | Missense | 13/20 | - | 3 |
15-65682544-C-T | c.2357G>A | p.R786H | Missense | 13/20 | - | 1 |
15-65682545-G-A | c.2356C>T | p.R786C | Missense | 13/20 | - | 1 |
15-65682546-C-A | c.2355G>T | p.V785= | Synonymous | 13/20 | - | 1 |
15-65682546-C-G | c.2355G>C | p.V785= | Synonymous | 13/20 | - | 1 |
15-65682546-C-T | c.2355G>A | p.V785= | Synonymous | 13/20 | - | 1 |
15-65682547-A-T | c.2354T>A | p.V785E | Missense | 13/20 | - | 1 |
15-65682560-C-T | c.2341G>A | p.V781I | Missense | 13/20 | - | 1 |
15-65682578-A-C | c.2323T>G | p.F775V | Missense | 13/20 | - | 1 |
15-65682591-C-T | c.2310G>A | p.W770* | Nonsense | 13/20 | - | 1 |
15-65682595-C-T | c.2306G>A | p.R769Q | Missense | 13/20 | - | 1 |
15-65682596-G-A | c.2305C>T | p.R769W | Missense | 13/20 | - | 4 |
15-65682598-A-T | c.2303T>A | p.L768H | Missense | 13/20 | - | 3 |
15-65682602-A-T | c.2299T>A | p.W767R | Missense | 13/20 | - | 1 |
15-65682603-G-A | c.2298C>T | p.I766= | Synonymous | 13/20 | - | 1 |
15-65682606-G-A | c.2295C>T | p.S765= | Synonymous | 13/20 | - | 3 |
15-65682610-G-T | c.2291C>A | p.T764K | Missense | 13/20 | - | 1 |
15-65682616-C-G | c.2285G>C | p.S762T | Missense | 13/20 | - | 4 |
15-65682626-C-T | c.2275G>A | p.E759K | Missense | 13/20 | - | 1 |
15-65682627-C-T | c.2274G>A | p.A758= | Synonymous | 13/20 | - | 2 |
15-65682628-G-A | c.2273C>T | p.A758V | Missense | 13/20 | - | 3 |
15-65682635-C-T | c.2266G>A | p.V756I | Missense | 13/20 | - | 6 |
15-65682636-G-A | c.2265C>T | p.H755= | Synonymous | 13/20 | - | 1 |
15-65682636-G-C | c.2265C>G | p.H755Q | Missense | 13/20 | - | 1 |
15-65682636-G-T | c.2265C>A | p.H755Q | Missense | 13/20 | - | 2 |
15-65682640-G-A | c.2261C>T | p.A754V | Missense | 13/20 | - | 2 |
15-65682641-C-G | c.2260G>C | p.A754P | Missense | 13/20 | - | 1 |
15-65682644-G-A | c.2257C>T | p.P753S | Missense | 13/20 | - | 2 |
15-65682644-G-C | c.2257C>G | p.P753A | Missense | 13/20 | - | 1 |
15-65682646-G-T | c.2255C>A | p.P752H | Missense | 13/20 | - | 1 |
15-65682654-T-A | c.2247A>T | p.P749= | Synonymous | 13/20 | - | 1 |
15-65682654-T-C | c.2247A>G | p.P749= | Synonymous | 13/20 | - | 1 |
15-65682654-T-G | c.2247A>C | p.P749= | Synonymous | 13/20 | - | 1 |
15-65682659-C-A | c.2242G>T | p.G748* | Nonsense | 13/20 | - | 1 |
15-65682659-C-G | c.2242G>C | p.G748R | Missense | 13/20 | - | 2 |
15-65682659-C-T | c.2242G>A | p.G748R | Missense | 13/20 | - | 2 |
15-65682660-C-A | c.2241G>T | p.R747S | Missense | 13/20 | - | 2 |
15-65682660-CCT-ATG | c.2239_2241delinsCAT | p.R747H | Missense | 13/20 | - | 1 |
15-65682660-C-G | c.2241G>C | p.R747S | Missense | 13/20 | - | 2 |
15-65682661-C-G | c.2240G>C | p.R747T | Missense | 13/20 | - | 1 |
15-65682661-C-T | c.2240G>A | p.R747K | Missense | 13/20 | - | 1 |
15-65682665-G-A | c.2236C>T | p.Q746* | Nonsense | 13/20 | - | 4 |
15-65682670-G-C | c.2231C>G | p.P744R | Missense | 13/20 | - | 1 |
15-65684224-C-T | c.2218G>A | p.A740T | Missense | 12/20 | - | 1 |
15-65684226-G-A | c.2216C>T | p.P739L | Missense | 12/20 | - | 4 |
15-65684235-T-C | c.2207A>G | p.E736G | Missense | 12/20 | - | 1 |
15-65684237-C-A | c.2205G>T | p.T735= | Synonymous | 12/20 | - | 1 |
15-65684237-C-G | c.2205G>C | p.T735= | Synonymous | 12/20 | - | 1 |
15-65684237-C-T | c.2205G>A | p.T735= | Synonymous | 12/20 | - | 2 |
15-65684244-C-T | c.2198G>A | p.G733D | Missense | 12/20 | - | 3 |
15-65684246-C-A | c.2196G>T | p.K732N | Missense | 12/20 | - | 1 |
15-65684246-C-G | c.2196G>C | p.K732N | Missense | 12/20 | - | 1 |
15-65684251-A-G | c.2191T>C | p.W731R | Missense | 12/20 | - | 1 |
15-65684251-A-T | c.2191T>A | p.W731R | Missense | 12/20 | - | 1 |
15-65684253-A-C | c.2189T>G | p.V730G | Missense | 12/20 | - | 2 |
15-65684268-T-G | c.2174A>C | p.D725A | Missense | 12/20 | - | 1 |
15-65684272-C-A | c.2170G>T | p.E724* | Nonsense | 12/20 | - | 1 |
15-65684279-G-A | c.2163C>T | p.N721= | Synonymous | 12/20 | - | 2 |
15-65684287-C-T | c.2155G>A | p.A719T | Missense | 12/20 | - | 1 |
15-65684290-C-T | c.2152G>A | p.V718M | Missense | 12/20 | - | 1 |
15-65684291-G-A | c.2151C>T | p.L717= | Synonymous | 12/20 | - | 1 |
15-65684303-G-A | c.2139C>T | p.Y713= | Synonymous | 12/20 | - | 1 |
15-65684309-C-A | c.2133G>T | p.R711= | Synonymous | 12/20 | - | 1 |
15-65684309-C-G | c.2133G>C | p.R711= | Synonymous | 12/20 | - | 2 |
15-65684309-C-T | c.2133G>A | p.R711= | Synonymous | 12/20 | - | 1 |
15-65684311-G-T | c.2131C>A | p.R711= | Synonymous | 12/20 | - | 1 |
15-65684422-T-TC | c.2122+49dup | - | IntronicInsertion | - | 11/19 | 8 |
15-65684422-T-TCCCCC | c.2122+49_2122+50insGGGGG | - | IntronicInsertion | - | 11/19 | 7 |
15-65684422-T-TCCCCG | c.2122+49_2122+50insCGGGG | - | IntronicInsertion | - | 11/19 | 7 |
15-65684447-T-C | c.2122+25A>G | - | IntronicSNV | - | 11/19 | 1 |
15-65684453-T-A | c.2122+19A>T | - | IntronicSNV | - | 11/19 | 1 |
15-65684453-T-C | c.2122+19A>G | - | IntronicSNV | - | 11/19 | 1 |
15-65684477-T-A | c.2117A>T | p.Q706L | Missense | 11/20 | - | 2 |
15-65684478-G-A | c.2116C>T | p.Q706* | Nonsense | 11/20 | - | 2 |
15-65684478-G-T | c.2116C>A | p.Q706K | Missense | 11/20 | - | 1 |
15-65684479-G-A | c.2115C>T | p.T705= | Synonymous | 11/20 | - | 2 |
15-65684479-G-C | c.2115C>G | p.T705= | Synonymous | 11/20 | - | 1 |
15-65684479-G-T | c.2115C>A | p.T705= | Synonymous | 11/20 | - | 1 |
15-65684485-C-T | c.2109G>A | p.E703= | Synonymous | 11/20 | - | 1 |
15-65684487-C-G | c.2107G>C | p.E703Q | Missense | 11/20 | - | 2 |
15-65684491-C-T | c.2103G>A | p.Q701= | Synonymous | 11/20 | - | 1 |
15-65684494-C-A | c.2100G>T | p.K700N | Missense | 11/20 | - | 1 |
15-65684505-T-A | c.2089A>T | p.K697* | Nonsense | 11/20 | - | 1 |
15-65684513-C-T | c.2081G>A | p.R694Q | Missense | 11/20 | - | 8 |
15-65684512-C-A | c.2082G>T | p.R694= | Synonymous | 11/20 | - | 1 |
15-65684512-C-G | c.2082G>C | p.R694= | Synonymous | 11/20 | - | 1 |
15-65684512-C-T | c.2082G>A | p.R694= | Synonymous | 11/20 | - | 3 |
15-65684514-G-A | c.2080C>T | p.R694W | Missense | 11/20 | - | 1 |
15-65684514-G-T | c.2080C>A | p.R694= | Synonymous | 11/20 | - | 1 |
15-65684515-G-A | c.2079C>T | p.V693= | Synonymous | 11/20 | - | 1 |
15-65684515-G-C | c.2079C>G | p.V693= | Synonymous | 11/20 | - | 1 |
15-65684515-G-T | c.2079C>A | p.V693= | Synonymous | 11/20 | - | 1 |
15-65684524-C-A | c.2070G>T | p.V690= | Synonymous | 11/20 | - | 1 |
15-65684524-C-G | c.2070G>C | p.V690= | Synonymous | 11/20 | - | 1 |
15-65684524-C-T | c.2070G>A | p.V690= | Synonymous | 11/20 | - | 2 |
15-65684531-C-A | c.2063G>T | p.W688L | Missense | 11/20 | - | 1 |
15-65684533-A-G | c.2061T>C | p.A687= | Synonymous | 11/20 | - | 16 |
15-65684546-C-T | c.2048G>A | p.R683H | Missense | 11/20 | - | 3 |
15-65684548-G-A | c.2046C>T | p.G682= | Synonymous | 11/20 | - | 1 |
15-65684548-G-C | c.2046C>G | p.G682= | Synonymous | 11/20 | - | 1 |
15-65684548-GC-CT | c.2045_2046delinsAG | p.G682E | Missense | 11/20 | - | 1 |
15-65684551-C-A | c.2043G>T | p.G681= | Synonymous | 11/20 | - | 2 |
15-65684552-C-T | c.2042G>A | p.G681E | Missense | 11/20 | - | 2 |
15-65684561-C-A | c.2033G>T | p.R678L | Missense | 11/20 | - | 1 |
15-65684561-C-T | c.2033G>A | p.R678H | Missense | 11/20 | - | 3 |
15-65684566-G-A | c.2028C>T | p.G676= | Synonymous | 11/20 | - | 2 |
15-65684566-G-C | c.2028C>G | p.G676= | Synonymous | 11/20 | - | 1 |
15-65684566-G-T | c.2028C>A | p.G676= | Synonymous | 11/20 | - | 1 |
15-65684574-C-T | c.2020G>A | p.A674T | Missense | 11/20 | - | 1 |
15-65684575-C-T | c.2019G>A | p.E673= | Synonymous | 11/20 | - | 1 |
15-65684580-C-T | c.2014G>A | p.E672K | Missense | 11/20 | - | 1 |
15-65684591-A-C | c.2003T>G | p.V668G | Missense | 11/20 | - | 2 |
15-65684592-C-A | c.2002G>T | p.V668L | Missense | 11/20 | - | 1 |
15-65684592-C-G | c.2002G>C | p.V668L | Missense | 11/20 | - | 1 |
15-65684597-C-T | c.1997G>A | p.R666Q | Missense | 11/20 | - | 2 |
15-65684598-G-A | c.1996C>T | p.R666W | Missense | 11/20 | - | 2 |
15-65684599-C-A | c.1995G>T | p.W665C | Missense | 11/20 | - | 1 |
15-65684599-C-G | c.1995G>C | p.W665C | Missense | 11/20 | - | 1 |
15-65684601-AAT-A | c.1991_1992del | p.Y664Lfs*7 | Frameshift | 11/20 | - | 2 |
15-65684608-T-A | c.1986A>T | p.K662N | Missense | 11/20 | - | 1 |
15-65684619-A-C | c.1975T>G | p.S659A | Missense | 11/20 | - | 1 |
15-65684625-G-C | c.1969C>G | p.Q657E | Missense | 11/20 | - | 1 |
15-65684630-G-A | c.1964C>T | p.P655L | Missense | 11/20 | - | 1 |
15-65684634-G-A | c.1960C>T | p.H654Y | Missense | 11/20 | - | 3 |
15-65684655-C-T | c.1939G>A | p.V647M | Missense | 11/20 | - | 2 |
15-65684658-C-T | c.1936G>A | p.V646I | Missense | 11/20 | - | 3 |
15-65684677-C-T | c.1917G>A | p.Q639= | Synonymous | 11/20 | - | 1 |
15-65684681-A-G | c.1913T>C | p.V638A | Missense | 11/20 | - | 1 |
15-65684683-C-A | c.1911G>T | p.K637N | Missense | 11/20 | - | 1 |
15-65684683-C-G | c.1911G>C | p.K637N | Missense | 11/20 | - | 1 |
15-65684684-T-G | c.1910A>C | p.K637T | Missense | 11/20 | - | 1 |
15-65684686-C-A | c.1908G>T | p.L636F | Missense | 11/20 | - | 1 |
15-65684686-C-G | c.1908G>C | p.L636F | Missense | 11/20 | - | 2 |
15-65684690-T-C | c.1904A>G | p.E635G | Missense | 11/20 | - | 9 |
15-65684694-C-T | c.1900G>A | p.A634T | Missense | 11/20 | - | 2 |
15-65684697-G-A | c.1897C>T | p.P633S | Missense | 11/20 | - | 3 |
15-65684704-A-C | c.1890T>G | p.P630= | Synonymous | 11/20 | - | 1 |
15-65684704-A-G | c.1890T>C | p.P630= | Synonymous | 11/20 | - | 1 |
15-65684704-A-T | c.1890T>A | p.P630= | Synonymous | 11/20 | - | 1 |
15-65685186-T-A | c.1886-478A>T | - | IntronicSNV | - | 10/19 | 1 |
15-65685645-C-T | c.1885+54G>A | - | IntronicSNV | - | 10/19 | 1 |
15-65685695-G-A | c.1885+4C>T | - | IntronicSNV | - | 10/19 | 9 |
15-65685695-G-C | c.1885+4C>G | - | IntronicSNV | - | 10/19 | 4 |
15-65685723-G-A | c.1861C>T | p.P621S | Missense | 10/20 | - | 2 |
15-65685725-G-A | c.1859C>T | p.T620M | Missense | 10/20 | - | 1 |
15-65685726-T-C | c.1858A>G | p.T620A | Missense | 10/20 | - | 1 |
15-65685732-G-T | c.1852C>A | p.H618N | Missense | 10/20 | - | 1 |
15-65685741-A-C | c.1843T>G | p.W615G | Missense | 10/20 | - | 1 |
15-65685745-G-A | c.1839C>T | p.S613= | Synonymous | 10/20 | - | 1 |
15-65685746-G-A | c.1838C>T | p.S613F | Missense | 10/20 | - | 3 |
15-65685748-G-A | c.1836C>T | p.P612= | Synonymous | 10/20 | - | 1 |
15-65685749-G-A | c.1835C>T | p.P612L | Missense | 10/20 | - | 6 |
15-65685753-C-A | c.1831G>T | p.A611S | Missense | 10/20 | - | 1 |
15-65685754-C-T | c.1830G>A | p.G610= | Synonymous | 10/20 | - | 1 |
15-65685752-GC-G | c.1831del | p.A611Pfs*26 | Frameshift | 10/20 | - | 1 |
15-65685757-G-A | c.1827C>T | p.F609= | Synonymous | 10/20 | - | 2 |
15-65685757-G-T | c.1827C>A | p.F609L | Missense | 10/20 | - | 1 |
15-65685759-A-T | c.1825T>A | p.F609I | Missense | 10/20 | - | 1 |
15-65685765-C-A | c.1819G>T | p.A607S | Missense | 10/20 | - | 1 |
15-65685770-G-T | c.1814C>A | p.T605K | Missense | 10/20 | - | 1 |
15-65685772-A-C | c.1812T>G | p.G604= | Synonymous | 10/20 | - | 1 |
15-65685772-A-G | c.1812T>C | p.G604= | Synonymous | 10/20 | - | 1 |
15-65685772-A-T | c.1812T>A | p.G604= | Synonymous | 10/20 | - | 1 |
15-65685773-C-T | c.1811G>A | p.G604D | Missense | 10/20 | - | 1 |
15-65685775-A-C | c.1809T>G | p.A603= | Synonymous | 10/20 | - | 1 |
15-65685779-G-A | c.1805C>T | p.S602L | Missense | 10/20 | - | 7 |
15-65685790-TCG-ACA | c.1792_1794delinsTGT | p.R598C | Missense | 10/20 | - | 1 |
15-65685791-C-T | c.1793G>A | p.R598Q | Missense | 10/20 | - | 1 |
15-65685810-G-A | c.1774C>T | p.Q592* | Nonsense | 10/20 | - | 1 |
15-65685813-G-T | c.1771C>A | p.L591I | Missense | 10/20 | - | 1 |
15-65685814-C-A | c.1770G>T | p.S590= | Synonymous | 10/20 | - | 1 |
15-65685814-C-G | c.1770G>C | p.S590= | Synonymous | 10/20 | - | 1 |
15-65685814-C-T | c.1770G>A | p.S590= | Synonymous | 10/20 | - | 1 |
15-65685815-G-A | c.1769C>T | p.S590L | Missense | 10/20 | - | 1 |
15-65685815-G-T | c.1769C>A | p.S590* | Nonsense | 10/20 | - | 2 |
15-65685817-G-A | c.1767C>T | p.N589= | Synonymous | 10/20 | - | 1 |
15-65685819-T-C | c.1765A>G | p.N589D | Missense | 10/20 | - | 1 |
15-65685824-A-G | c.1760T>C | p.M587T | Missense | 10/20 | - | 1 |
15-65685825-T-A | c.1759A>T | p.M587L | Missense | 10/20 | - | 1 |
15-65685825-T-G | c.1759A>C | p.M587L | Missense | 10/20 | - | 1 |
15-65685829-C-A | c.1755G>T | p.Q585H | Missense | 10/20 | - | 1 |
15-65685845-C-G | c.1739G>C | p.R580P | Missense | 10/20 | - | 1 |
15-65685846-G-A | c.1738C>T | p.R580* | Nonsense | 10/20 | - | 2 |
15-65685859-G-T | c.1725C>A | p.F575L | Missense | 10/20 | - | 1 |
15-65685968-G-A | c.1715-99C>T | - | IntronicSNV | - | 9/19 | 3 |
15-65686188-A-G | c.1715-319T>C | - | IntronicSNV | - | 9/19 | 1 |
15-65686582-CT-C | c.1714+166del | - | IntronicDeletion | - | 9/19 | 1 |
15-65686740-C-T | c.1714+9G>A | - | IntronicSNV | - | 9/19 | 1 |
15-65686752-C-T | c.1711G>A | p.E571K | Missense | 9/20 | - | 1 |
15-65686759-C-T | c.1704G>A | p.L568= | Synonymous | 9/20 | - | 1 |
15-65686761-A-G | c.1702T>C | p.L568= | Synonymous | 9/20 | - | 1 |
15-65686763-C-T | c.1700G>A | p.G567D | Missense | 9/20 | - | 2 |
15-65686764-C-T | c.1699G>A | p.G567S | Missense | 9/20 | - | 4 |
15-65686765-G-A | c.1698C>T | p.Y566= | Synonymous | 9/20 | - | 2 |
15-65686770-C-T | c.1693G>A | p.E565K | Missense | 9/20 | - | 1 |
15-65686774-C-A | c.1689G>T | p.K563N | Missense | 9/20 | - | 1 |
15-65686774-C-G | c.1689G>C | p.K563N | Missense | 9/20 | - | 1 |
15-65686779-A-G | c.1684T>C | p.Y562H | Missense | 9/20 | - | 2 |
15-65686788-C-T | c.1675G>A | p.V559M | Missense | 9/20 | - | 1 |
15-65686792-C-A | c.1671G>T | p.G557= | Synonymous | 9/20 | - | 1 |
15-65686792-C-T | c.1671G>A | p.G557= | Synonymous | 9/20 | - | 1 |
15-65686803-G-T | c.1660C>A | p.L554M | Missense | 9/20 | - | 1 |
15-65686805-C-T | c.1658G>A | p.S553N | Missense | 9/20 | - | 1 |
15-65686806-CT-C | c.1657del | p.S553Afs*2 | Frameshift | 9/20 | - | 1 |
15-65686808-G-T | c.1655C>A | p.P552H | Missense | 9/20 | - | 2 |
15-65686806-T-TG | c.1656dup | p.S553Qfs*26 | Frameshift | 9/20 | - | 1 |
15-65686812-G-T | c.1651C>A | p.P551T | Missense | 9/20 | - | 1 |
15-65686817-G-A | c.1646C>T | p.P549L | Missense | 9/20 | - | 5 |
15-65686822-C-T | c.1641G>A | p.W547* | Nonsense | 9/20 | - | 1 |
15-65686823-C-T | c.1640G>A | p.W547* | Nonsense | 9/20 | - | 1 |
15-65686827-C-T | c.1636G>A | p.A546T | Missense | 9/20 | - | 2 |
15-65686837-G-A | c.1626C>T | p.D542= | Synonymous | 9/20 | - | 1 |
15-65686840-C-A | c.1623G>T | p.S541= | Synonymous | 9/20 | - | 1 |
15-65686840-C-G | c.1623G>C | p.S541= | Synonymous | 9/20 | - | 1 |
15-65686840-C-T | c.1623G>A | p.S541= | Synonymous | 9/20 | - | 1 |
15-65686856-G-A | c.1607C>T | p.S536F | Missense | 9/20 | - | 1 |
15-65686860-G-T | c.1603C>A | p.L535M | Missense | 9/20 | - | 1 |
15-65686861-G-A | c.1602C>T | p.S534= | Synonymous | 9/20 | - | 2 |
15-65686861-G-C | c.1602C>G | p.S534= | Synonymous | 9/20 | - | 1 |
15-65686861-G-T | c.1602C>A | p.S534= | Synonymous | 9/20 | - | 1 |
15-65686862-G-A | c.1601C>T | p.S534F | Missense | 9/20 | - | 1 |
15-65686866-G-C | c.1597C>G | p.L533V | Missense | 9/20 | - | 1 |
15-65686869-G-A | c.1594C>T | p.Q532* | Nonsense | 9/20 | - | 4 |
15-65686870-G-A | c.1593C>T | p.P531= | Synonymous | 9/20 | - | 1 |
15-65686870-G-C | c.1593C>G | p.P531= | Synonymous | 9/20 | - | 1 |
15-65686870-G-T | c.1593C>A | p.P531= | Synonymous | 9/20 | - | 2 |
15-65686875-C-T | c.1588G>A | p.A530T | Missense | 9/20 | - | 1 |
15-65686882-G-A | c.1581C>T | p.P527= | Synonymous | 9/20 | - | 3 |
15-65686885-G-A | c.1578C>T | p.V526= | Synonymous | 9/20 | - | 2 |
15-65686908-A-G | c.1577-22T>C | - | IntronicSNV | - | 8/19 | 6 |
15-65687443-G-T | c.1565C>A | p.T522K | Missense | 8/20 | - | 1 |
15-65687448-C-A | c.1560G>T | p.V520= | Synonymous | 8/20 | - | 1 |
15-65687448-CAC-GAT | c.1558_1560delinsATC | p.V520I | Missense | 8/20 | - | 1 |
15-65687448-C-G | c.1560G>C | p.V520= | Synonymous | 8/20 | - | 1 |
15-65687448-C-T | c.1560G>A | p.V520= | Synonymous | 8/20 | - | 1 |
15-65687450-C-T | c.1558G>A | p.V520M | Missense | 8/20 | - | 1 |
15-65687451-C-A | c.1557G>T | p.L519= | Synonymous | 8/20 | - | 1 |
15-65687451-C-G | c.1557G>C | p.L519= | Synonymous | 8/20 | - | 1 |
15-65687451-C-T | c.1557G>A | p.L519= | Synonymous | 8/20 | - | 1 |
15-65687453-G-A | c.1555C>T | p.L519= | Synonymous | 8/20 | - | 1 |
15-65687456-C-T | c.1552G>A | p.A518T | Missense | 8/20 | - | 2 |
15-65687458-G-A | c.1550C>T | p.P517L | Missense | 8/20 | - | 1 |
15-65687470-C-T | c.1538G>A | p.R513H | Missense | 8/20 | - | 2 |
15-65687471-G-A | c.1537C>T | p.R513C | Missense | 8/20 | - | 2 |
15-65687476-G-C | c.1532C>G | p.A511G | Missense | 8/20 | - | 1 |
15-65687479-C-A | c.1529G>T | p.G510V | Missense | 8/20 | - | 2 |
15-65687479-C-G | c.1529G>C | p.G510A | Missense | 8/20 | - | 1 |
15-65687479-C-T | c.1529G>A | p.G510E | Missense | 8/20 | - | 1 |
15-65687480-C-T | c.1528G>A | p.G510R | Missense | 8/20 | - | 1 |
15-65687481-C-T | c.1527G>A | p.L509= | Synonymous | 8/20 | - | 3 |
15-65687485-T-G | c.1523A>C | p.Q508P | Missense | 8/20 | - | 1 |
15-65687487-G-A | c.1521C>T | p.S507= | Synonymous | 8/20 | - | 1 |
15-65687489-A-T | c.1519T>A | p.S507T | Missense | 8/20 | - | 2 |
15-65687496-C-A | c.1512G>T | p.V504= | Synonymous | 8/20 | - | 1 |
15-65687496-C-G | c.1512G>C | p.V504= | Synonymous | 8/20 | - | 1 |
15-65687496-C-T | c.1512G>A | p.V504= | Synonymous | 8/20 | - | 1 |
15-65687503-T-A | c.1505A>T | p.Y502F | Missense | 8/20 | - | 1 |
15-65687505-G-A | c.1503C>T | p.F501= | Synonymous | 8/20 | - | 1 |
15-65687505-G-C | c.1503C>G | p.F501L | Missense | 8/20 | - | 2 |
15-65687505-G-T | c.1503C>A | p.F501L | Missense | 8/20 | - | 2 |
15-65687507-A-G | c.1501T>C | p.F501L | Missense | 8/20 | - | 2 |
15-65687515-T-A | c.1493A>T | p.D498V | Missense | 8/20 | - | 1 |
15-65687516-C-G | c.1492G>C | p.D498H | Missense | 8/20 | - | 1 |
15-65687516-C-T | c.1492G>A | p.D498N | Missense | 8/20 | - | 2 |
15-65687522-T-C | c.1486A>G | p.N496D | Missense | 8/20 | - | 1 |
15-65687537-G-A | c.1471C>T | p.R491W | Missense | 8/20 | - | 8 |
15-65687553-G-A | c.1455C>T | p.T485= | Synonymous | 8/20 | - | 1 |
15-65687553-G-C | c.1455C>G | p.T485= | Synonymous | 8/20 | - | 1 |
15-65687553-G-T | c.1455C>A | p.T485= | Synonymous | 8/20 | - | 1 |
15-65687558-C-T | c.1450G>A | p.D484N | Missense | 8/20 | - | 2 |
15-65687559-G-A | c.1449C>T | p.N483= | Synonymous | 8/20 | - | 1 |
15-65687570-C-A | c.1438G>T | p.A480S | Missense | 8/20 | - | 2 |
15-65687578-T-A | c.1430A>T | p.Y477F | Missense | 8/20 | - | 1 |
15-65687590-T-C | c.1418A>G | p.D473G | Missense | 8/20 | - | 1 |
15-65687641-C-CG | c.1412-46dup | - | IntronicInsertion | - | 7/19 | 1 |
15-65687964-T-C | c.1411+124A>G | - | IntronicSNV | - | 7/19 | 1 |
15-65688063-T-G | c.1411+25A>C | - | IntronicSNV | - | 7/19 | 1 |
15-65688083-C-T | c.1411+5G>A | - | IntronicSNV | - | 7/19 | 1 |
15-65688113-G-A | c.1386C>T | p.F462= | Synonymous | 7/20 | - | 1 |
15-65688119-G-A | c.1380C>T | p.I460= | Synonymous | 7/20 | - | 1 |
15-65688125-C-A | c.1374G>T | p.Q458H | Missense | 7/20 | - | 1 |
15-65688125-C-G | c.1374G>C | p.Q458H | Missense | 7/20 | - | 1 |
15-65688127-G-A | c.1372C>T | p.Q458* | Nonsense | 7/20 | - | 2 |
15-65688129-T-C | c.1370A>G | p.E457G | Missense | 7/20 | - | 1 |
15-65688131-G-A | c.1368C>T | p.S456= | Synonymous | 7/20 | - | 1 |
15-65688133-T-TA | c.1365_1366insT | p.S456* | Nonsense | 7/20 | - | 1 |
15-65688135-T-C | c.1364A>G | p.H455R | Missense | 7/20 | - | 1 |
15-65688138-A-G | c.1361T>C | p.M454T | Missense | 7/20 | - | 3 |
15-65688144-G-A | c.1355C>T | p.P452L | Missense | 7/20 | - | 2 |
15-65688148-G-A | c.1351C>T | p.R451W | Missense | 7/20 | - | 1 |
15-65688186-G-A | c.1313C>T | p.T438M | Missense | 7/20 | - | 2 |
15-65688189-G-A | c.1310C>T | p.A437V | Missense | 7/20 | - | 1 |
15-65688198-C-A | c.1301G>T | p.R434L | Missense | 7/20 | - | 1 |
15-65688199-G-A | c.1300C>T | p.R434W | Missense | 7/20 | - | 1 |
15-65688200-C-A | c.1299G>T | p.T433= | Synonymous | 7/20 | - | 1 |
15-65688200-C-G | c.1299G>C | p.T433= | Synonymous | 7/20 | - | 1 |
15-65688200-C-T | c.1299G>A | p.T433= | Synonymous | 7/20 | - | 1 |
15-65688212-G-T | c.1287C>A | p.P429= | Synonymous | 7/20 | - | 1 |
15-65688219-C-G | c.1280G>C | p.G427A | Missense | 7/20 | - | 1 |
15-65688220-C-A | c.1279G>T | p.G427W | Missense | 7/20 | - | 2 |
15-65688223-C-T | c.1276G>A | p.E426K | Missense | 7/20 | - | 1 |
15-65688224-G-A | c.1275C>T | p.R425= | Synonymous | 7/20 | - | 3 |
15-65688224-G-C | c.1275C>G | p.R425= | Synonymous | 7/20 | - | 2 |
15-65688224-GCG-TCA | c.1273_1275delinsTGA | p.R425* | Nonsense | 7/20 | - | 1 |
15-65688224-G-T | c.1275C>A | p.R425= | Synonymous | 7/20 | - | 2 |
15-65688225-C-T | c.1274G>A | p.R425H | Missense | 7/20 | - | 1 |
15-65688232-C-T | c.1267G>A | p.V423M | Missense | 7/20 | - | 1 |
15-65688237-G-A | c.1262C>T | p.A421V | Missense | 7/20 | - | 3 |
15-65688238-C-A | c.1261G>T | p.A421S | Missense | 7/20 | - | 1 |
15-65688239-C-G | c.1260G>C | p.L420= | Synonymous | 7/20 | - | 1 |
15-65688242-C-A | c.1257G>T | p.S419= | Synonymous | 7/20 | - | 1 |
15-65688251-A-AG | c.1247dup | p.A417Cfs*84 | Frameshift | 7/20 | - | 1 |
15-65688254-G-A | c.1245C>T | p.C415= | Synonymous | 7/20 | - | 1 |
15-65688254-G-T | c.1245C>A | p.C415* | Nonsense | 7/20 | - | 1 |
15-65688258-G-A | c.1241C>T | p.A414V | Missense | 7/20 | - | 1 |
15-65688266-C-T | c.1233G>A | p.A411= | Synonymous | 7/20 | - | 1 |
15-65688270-C-T | c.1229G>A | p.S410N | Missense | 7/20 | - | 1 |
15-65688279-G-T | c.1220C>A | p.A407D | Missense | 7/20 | - | 1 |
15-65688284-G-A | c.1215C>T | p.C405= | Synonymous | 7/20 | - | 1 |
15-65688290-G-A | c.1209C>T | p.Y403= | Synonymous | 7/20 | - | 1 |
15-65688293-G-A | c.1206C>T | p.Y402= | Synonymous | 7/20 | - | 1 |
15-65688298-C-T | c.1201G>A | p.G401S | Missense | 7/20 | - | 2 |
15-65688301-C-T | c.1198G>A | p.A400T | Missense | 7/20 | - | 1 |
15-65688302-G-C | c.1197C>G | p.D399E | Missense | 7/20 | - | 1 |
15-65688302-G-T | c.1197C>A | p.D399E | Missense | 7/20 | - | 1 |
15-65688311-G-A | c.1188C>T | p.G396= | Synonymous | 7/20 | - | 1 |
15-65688323-G-A | c.1176C>T | p.I392= | Synonymous | 7/20 | - | 1 |
15-65688323-G-T | c.1176C>A | p.I392= | Synonymous | 7/20 | - | 1 |
15-65688328-C-T | c.1171G>A | p.V391I | Missense | 7/20 | - | 1 |
15-65688339-C-T | c.1160G>A | p.G387D | Missense | 7/20 | - | 1 |
15-65688340-C-G | c.1159G>C | p.G387R | Missense | 7/20 | - | 1 |
15-65688341-G-A | c.1158C>T | p.G386= | Synonymous | 7/20 | - | 1 |
15-65688341-G-C | c.1158C>G | p.G386= | Synonymous | 7/20 | - | 1 |
15-65688341-G-T | c.1158C>A | p.G386= | Synonymous | 7/20 | - | 1 |
15-65688344-G-A | c.1155C>T | p.G385= | Synonymous | 7/20 | - | 1 |
15-65688345-C-T | c.1154G>A | p.G385D | Missense | 7/20 | - | 1 |
15-65688361-G-T | c.1138C>A | p.R380S | Missense | 7/20 | - | 1 |
15-65688367-T-A | c.1132A>T | p.N378Y | Missense | 7/20 | - | 1 |
15-65688367-T-TA | c.1131_1132insT | p.N378* | Nonsense | 7/20 | - | 1 |
15-65688369-G-A | c.1130C>T | p.P377L | Missense | 7/20 | - | 1 |
15-65688370-G-T | c.1129C>A | p.P377T | Missense | 7/20 | - | 1 |
15-65688372-C-T | c.1127G>A | p.R376Q | Missense | 7/20 | - | 2 |
15-65688373-G-A | c.1126C>T | p.R376W | Missense | 7/20 | - | 1 |
15-65688375-A-C | c.1124T>G | p.L375R | Missense | 7/20 | - | 1 |
15-65688377-C-A | c.1122G>T | p.P374= | Synonymous | 7/20 | - | 1 |
15-65688377-C-G | c.1122G>C | p.P374= | Synonymous | 7/20 | - | 1 |
15-65688377-CG-AT | c.1121_1122delinsAT | p.P374H | Missense | 7/20 | - | 1 |
15-65688377-C-T | c.1122G>A | p.P374= | Synonymous | 7/20 | - | 1 |
15-65688381-G-A | c.1118C>T | p.A373V | Missense | 7/20 | - | 1 |
15-65688385-C-A | c.1114G>T | p.G372W | Missense | 7/20 | - | 1 |
15-65688389-G-A | c.1110C>T | p.H370= | Synonymous | 7/20 | - | 1 |
15-65688396-C-A | c.1103G>T | p.W368L | Missense | 7/20 | - | 1 |
15-65688399-C-T | c.1100G>A | p.R367H | Missense | 7/20 | - | 1 |
15-65688402-A-T | c.1097T>A | p.L366Q | Missense | 7/20 | - | 1 |
15-65688404-C-T | c.1095G>A | p.A365= | Synonymous | 7/20 | - | 1 |
15-65688409-G-T | c.1090C>A | p.P364T | Missense | 7/20 | - | 1 |
15-65688410-CCG-ACA | c.1087_1089delinsTGT | p.R363C | Missense | 7/20 | - | 1 |
15-65688411-C-T | c.1088G>A | p.R363Q | Missense | 7/20 | - | 1 |
15-65688410-C-A | c.1089G>T | p.R363= | Synonymous | 7/20 | - | 2 |
15-65688410-C-G | c.1089G>C | p.R363= | Synonymous | 7/20 | - | 2 |
15-65688410-C-T | c.1089G>A | p.R363= | Synonymous | 7/20 | - | 2 |
15-65688412-G-T | c.1087C>A | p.R363= | Synonymous | 7/20 | - | 2 |
15-65688415-G-A | c.1084C>T | p.P362S | Missense | 7/20 | - | 1 |
15-65688416-C-G | c.1083G>C | p.E361D | Missense | 7/20 | - | 1 |
15-65688437-G-A | c.1062C>T | p.F354= | Synonymous | 7/20 | - | 1 |
15-65688440-G-A | c.1059C>T | p.R353= | Synonymous | 7/20 | - | 1 |
15-65688440-GCG-TCA | c.1057_1059delinsTGA | p.R353* | Nonsense | 7/20 | - | 1 |
15-65688452-C-A | c.1047G>T | p.A349= | Synonymous | 7/20 | - | 1 |
15-65688452-C-G | c.1047G>C | p.A349= | Synonymous | 7/20 | - | 1 |
15-65688452-C-T | c.1047G>A | p.A349= | Synonymous | 7/20 | - | 3 |
15-65688454-C-T | c.1045G>A | p.A349T | Missense | 7/20 | - | 1 |
15-65688456-C-A | c.1043G>T | p.R348L | Missense | 7/20 | - | 1 |
15-65688455-C-A | c.1044G>T | p.R348= | Synonymous | 7/20 | - | 1 |
15-65688455-C-G | c.1044G>C | p.R348= | Synonymous | 7/20 | - | 1 |
15-65688455-C-T | c.1044G>A | p.R348= | Synonymous | 7/20 | - | 1 |
15-65688457-G-A | c.1042C>T | p.R348W | Missense | 7/20 | - | 1 |
15-65688457-G-T | c.1042C>A | p.R348= | Synonymous | 7/20 | - | 1 |
15-65688459-G-A | c.1040C>T | p.T347M | Missense | 7/20 | - | 1 |
15-65688462-C-T | c.1037G>A | p.R346Q | Missense | 7/20 | - | 1 |
15-65688465-G-A | c.1034C>T | p.S345L | Missense | 7/20 | - | 3 |
15-65688477-G-A | c.1022C>T | p.P341L | Missense | 7/20 | - | 2 |
15-65688491-G-C | c.1008C>G | p.A336= | Synonymous | 7/20 | - | 1 |
15-65688493-C-T | c.1006G>A | p.A336T | Missense | 7/20 | - | 1 |
15-65688496-G-A | c.1003C>T | p.P335S | Missense | 7/20 | - | 2 |
15-65688499-C-T | c.1000G>A | p.A334T | Missense | 7/20 | - | 1 |
15-65688500-C-A | c.999G>T | p.A333= | Synonymous | 7/20 | - | 1 |
15-65688500-C-G | c.999G>C | p.A333= | Synonymous | 7/20 | - | 1 |
15-65688500-C-T | c.999G>A | p.A333= | Synonymous | 7/20 | - | 1 |
15-65688558-C-CG | c.998-58_998-57insC | - | IntronicInsertion | - | 6/19 | 3 |
15-65688558-C-CT | c.998-58_998-57insA | - | IntronicInsertion | - | 6/19 | 3 |
15-65688559-C-A | c.998-58G>T | - | IntronicSNV | - | 6/19 | 1 |
15-65688559-C-G | c.998-58G>C | - | IntronicSNV | - | 6/19 | 1 |
15-65688559-C-T | c.998-58G>A | - | IntronicSNV | - | 6/19 | 1 |
15-65688682-C-A | c.998-181G>T | - | IntronicSNV | - | 6/19 | 1 |
15-65688682-C-T | c.998-181G>A | - | IntronicSNV | - | 6/19 | 1 |
15-65688791-T-A | c.998-290A>T | - | IntronicSNV | - | 6/19 | 3 |
15-65688791-T-C | c.998-290A>G | - | IntronicSNV | - | 6/19 | 3 |
15-65688791-T-G | c.998-290A>C | - | IntronicSNV | - | 6/19 | 3 |
15-65688824-C-A | c.998-323G>T | - | IntronicSNV | - | 6/19 | 2 |
15-65688824-C-G | c.998-323G>C | - | IntronicSNV | - | 6/19 | 2 |
15-65688824-C-T | c.998-323G>A | - | IntronicSNV | - | 6/19 | 2 |
15-65689172-C-A | c.997G>T | p.A333S | Missense | 6/20 | - | 2 |
15-65689172-C-CA | c.996_997insT | p.A333Cfs*76 | SpliceDonorInsertion | 6/20 | - | 1 |
15-65689172-C-CG | c.996_997insC | p.A333Rfs*76 | SpliceDonorInsertion | 6/20 | - | 1 |
15-65689172-C-CT | c.996_997insA | p.A333Sfs*76 | SpliceDonorInsertion | 6/20 | - | 1 |
15-65689180-C-T | c.989G>A | p.R330H | Missense | 6/20 | - | 1 |
15-65689181-G-A | c.988C>T | p.R330C | Missense | 6/20 | - | 1 |
15-65689190-C-T | c.979G>A | p.A327T | Missense | 6/20 | - | 1 |
15-65689199-T-C | c.970A>G | p.T324A | Missense | 6/20 | - | 1 |
15-65689199-T-G | c.970A>C | p.T324P | Missense | 6/20 | - | 1 |
15-65689203-G-A | c.966C>T | p.F322= | Synonymous | 6/20 | - | 4 |
15-65689206-G-A | c.963C>T | p.D321= | Synonymous | 6/20 | - | 1 |
15-65689207-T-A | c.962A>T | p.D321V | Missense | 6/20 | - | 1 |
15-65689209-G-A | c.960C>T | p.R320= | Synonymous | 6/20 | - | 1 |
15-65689210-C-T | c.959G>A | p.R320H | Missense | 6/20 | - | 1 |
15-65689211-G-A | c.958C>T | p.R320C | Missense | 6/20 | - | 1 |
15-65689213-G-A | c.956C>T | p.T319M | Missense | 6/20 | - | 1 |
15-65689225-T-C | c.944A>G | p.N315S | Missense | 6/20 | - | 1 |
15-65689227-G-A | c.942C>T | p.A314= | Synonymous | 6/20 | - | 1 |
15-65689227-G-C | c.942C>G | p.A314= | Synonymous | 6/20 | - | 1 |
15-65689227-G-T | c.942C>A | p.A314= | Synonymous | 6/20 | - | 1 |
15-65689229-C-A | c.940G>T | p.A314S | Missense | 6/20 | - | 2 |
15-65689229-C-T | c.940G>A | p.A314T | Missense | 6/20 | - | 1 |
15-65689230-G-A | c.939C>T | p.R313= | Synonymous | 6/20 | - | 2 |
15-65689230-G-C | c.939C>G | p.R313= | Synonymous | 6/20 | - | 1 |
15-65689230-G-T | c.939C>A | p.R313= | Synonymous | 6/20 | - | 1 |
15-65689238-C-G | c.931G>C | p.V311L | Missense | 6/20 | - | 1 |
15-65689238-C-T | c.931G>A | p.V311I | Missense | 6/20 | - | 1 |
15-65689239-A-G | c.930T>C | p.Y310= | Synonymous | 6/20 | - | 1 |
15-65689242-G-A | c.927C>T | p.V309= | Synonymous | 6/20 | - | 1 |
15-65689251-G-C | c.918C>G | p.H306Q | Missense | 6/20 | - | 1 |
15-65689259-G-C | c.910C>G | p.P304A | Missense | 6/20 | - | 1 |
15-65689259-G-T | c.910C>A | p.P304T | Missense | 6/20 | - | 1 |
15-65689261-T-C | c.908A>G | p.Q303R | Missense | 6/20 | - | 2 |
15-65689263-C-A | c.906G>T | p.A302= | Synonymous | 6/20 | - | 1 |
15-65689263-C-G | c.906G>C | p.A302= | Synonymous | 6/20 | - | 1 |
15-65689263-C-T | c.906G>A | p.A302= | Synonymous | 6/20 | - | 2 |
15-65689265-C-T | c.904G>A | p.A302T | Missense | 6/20 | - | 3 |
15-65689266-G-A | c.903C>T | p.N301= | Synonymous | 6/20 | - | 1 |
15-65689267-T-C | c.902A>G | p.N301S | Missense | 6/20 | - | 27 |
15-65689273-A-G | c.896T>C | p.I299T | Missense | 6/20 | - | 1 |
15-65689280-G-A | c.889C>T | p.L297= | Synonymous | 6/20 | - | 1 |
15-65689288-C-A | c.881G>T | p.R294L | Missense | 6/20 | - | 1 |
15-65689288-C-T | c.881G>A | p.R294H | Missense | 6/20 | - | 1 |
15-65689290-GC-CT | c.878_879delinsAG | p.G293E | Missense | 6/20 | - | 1 |
15-65689295-G-A | c.874C>T | p.L292= | Synonymous | 6/20 | - | 1 |
15-65689297-A-G | c.872T>C | p.V291A | Missense | 6/20 | - | 1 |
15-65689301-T-C | c.868A>G | p.I290V | Missense | 6/20 | - | 1 |
15-65689307-C-A | c.862G>T | p.D288Y | Missense | 6/20 | - | 1 |
15-65689316-T-G | c.853A>C | p.I285L | Missense | 6/20 | - | 1 |
15-65689323-CC-GT | c.845_846delinsAC | p.G282D | Missense | 6/20 | - | 1 |
15-65689327-T-A | c.842A>T | p.D281V | Missense | 6/20 | - | 5 |
15-65693022-G-A | c.841+122C>T | - | IntronicSNV | - | 5/19 | 2 |
15-65693101-C-A | c.841+43G>T | - | IntronicSNV | - | 5/19 | 2 |
15-65693101-C-G | c.841+43G>C | - | IntronicSNV | - | 5/19 | 4 |
15-65693147-G-T | c.838C>A | p.Q280K | Missense | 5/20 | - | 1 |
15-65693148-TC-AT | c.836_837delinsAT | p.R279H | Missense | 5/20 | - | 1 |
15-65693149-C-A | c.836G>T | p.R279L | Missense | 5/20 | - | 1 |
15-65693155-C-A | c.830G>T | p.W277L | Missense | 5/20 | - | 1 |
15-65693163-A-G | c.822T>C | p.F274= | Synonymous | 5/20 | - | 1 |
15-65693167-G-A | c.818C>T | p.P273L | Missense | 5/20 | - | 3 |
15-65693168-G-T | c.817C>A | p.P273T | Missense | 5/20 | - | 4 |
15-65693170-G-A | c.815C>T | p.T272I | Missense | 5/20 | - | 1 |
15-65693180-C-T | c.805G>A | p.A269T | Missense | 5/20 | - | 1 |
15-65693182-G-A | c.803C>T | p.S268L | Missense | 5/20 | - | 1 |
15-65693185-G-A | c.800C>T | p.A267V | Missense | 5/20 | - | 2 |
15-65693187-C-A | c.798G>T | p.V266= | Synonymous | 5/20 | - | 1 |
15-65693187-C-G | c.798G>C | p.V266= | Synonymous | 5/20 | - | 1 |
15-65693187-C-T | c.798G>A | p.V266= | Synonymous | 5/20 | - | 2 |
15-65693194-T-G | c.791A>C | p.E264A | Missense | 5/20 | - | 1 |
15-65693195-C-G | c.790G>C | p.E264Q | Missense | 5/20 | - | 1 |
15-65693198-T-A | c.787A>T | p.M263L | Missense | 5/20 | - | 1 |
15-65693198-T-G | c.787A>C | p.M263L | Missense | 5/20 | - | 1 |
15-65693201-C-A | c.784G>T | p.V262L | Missense | 5/20 | - | 1 |
15-65693201-C-G | c.784G>C | p.V262L | Missense | 5/20 | - | 1 |
15-65693208-C-A | c.777G>T | p.Q259H | Missense | 5/20 | - | 1 |
15-65693208-C-G | c.777G>C | p.Q259H | Missense | 5/20 | - | 1 |
15-65693212-C-G | c.773G>C | p.G258A | Missense | 5/20 | - | 1 |
15-65693212-C-T | c.773G>A | p.G258D | Missense | 5/20 | - | 1 |
15-65693215-G-C | c.770C>G | p.S257C | Missense | 5/20 | - | 1 |
15-65693222-C-A | c.763G>T | p.V255L | Missense | 5/20 | - | 1 |
15-65693237-G-A | c.748C>T | p.P250S | Missense | 5/20 | - | 1 |
15-65693242-G-A | c.743C>T | p.A248V | Missense | 5/20 | - | 1 |
15-65693243-C-T | c.742G>A | p.A248T | Missense | 5/20 | - | 1 |
15-65693251-A-G | c.734T>C | p.V245A | Missense | 5/20 | - | 1 |
15-65693255-C-T | c.730G>A | p.V244M | Missense | 5/20 | - | 1 |
15-65693257-T-A | c.728A>T | p.D243V | Missense | 5/20 | - | 1 |
15-65693258-C-T | c.727G>A | p.D243N | Missense | 5/20 | - | 11 |
15-65693262-CCC-GCT | c.721_723delinsAGC | p.G241S | Missense | 5/20 | - | 1 |
15-65693264-C-G | c.721G>C | p.G241R | Missense | 5/20 | - | 1 |
15-65693264-C-T | c.721G>A | p.G241R | Missense | 5/20 | - | 1 |
15-65693267-T-A | c.718A>T | p.R240W | Missense | 5/20 | - | 2 |
15-65693275-G-A | c.710C>T | p.A237V | Missense | 5/20 | - | 1 |
15-65693276-C-T | c.709G>A | p.A237T | Missense | 5/20 | - | 1 |
15-65693281-G-A | c.704C>T | p.S235F | Missense | 5/20 | - | 3 |
15-65693397-T-C | c.701-113A>G | - | IntronicSNV | - | 4/19 | 4 |
15-65694613-C-G | c.700+76G>C | - | IntronicSNV | - | 4/19 | 3 |
15-65694613-C-T | c.700+76G>A | - | IntronicSNV | - | 4/19 | 1 |
15-65694689-C-T | c.700G>A | p.G234R | Missense | 4/20 | - | 1 |
15-65694694-T-C | c.695A>G | p.H232R | Missense | 4/20 | - | 1 |
15-65694697-G-A | c.692C>T | p.A231V | Missense | 4/20 | - | 1 |
15-65694697-G-T | c.692C>A | p.A231D | Missense | 4/20 | - | 2 |
15-65694704-T-C | c.685A>G | p.S229G | Missense | 4/20 | - | 1 |
15-65694716-C-T | c.673G>A | p.E225K | Missense | 4/20 | - | 1 |
15-65694727-T-C | c.662A>G | p.H221R | Missense | 4/20 | - | 1 |
15-65694729-C-T | c.660G>A | p.Q220= | Synonymous | 4/20 | - | 1 |
15-65694752-C-T | c.637G>A | p.V213M | Missense | 4/20 | - | 2 |
15-65694753-G-A | c.636C>T | p.C212= | Synonymous | 4/20 | - | 1 |
15-65694773-TC-T | c.616del | p.D206Mfs*57 | Frameshift | 4/20 | - | 1 |
15-65694775-C-T | c.614G>A | p.S205N | Missense | 4/20 | - | 1 |
15-65694782-G-T | c.607C>A | p.Q203K | Missense | 4/20 | - | 1 |
15-65694784-A-G | c.605T>C | p.V202A | Missense | 4/20 | - | 2 |
15-65694792-G-T | c.597C>A | p.I199= | Synonymous | 4/20 | - | 1 |
15-65694795-C-A | c.594G>T | p.Q198H | Missense | 4/20 | - | 1 |
15-65694795-C-G | c.594G>C | p.Q198H | Missense | 4/20 | - | 1 |
15-65694797-G-A | c.592C>T | p.Q198* | Nonsense | 4/20 | - | 1 |
15-65694800-G-A | c.589C>T | p.L197F | Missense | 4/20 | - | 1 |
15-65694803-C-A | c.586G>T | p.V196F | Missense | 4/20 | - | 1 |
15-65694803-C-T | c.586G>A | p.V196I | Missense | 4/20 | - | 6 |
15-65694806-C-A | c.583G>T | p.G195C | Missense | 4/20 | - | 1 |
15-65694806-C-T | c.583G>A | p.G195S | Missense | 4/20 | - | 1 |
15-65694807-G-A | c.582C>T | p.N194= | Synonymous | 4/20 | - | 1 |
15-65694811-G-A | c.578C>T | p.P193L | Missense | 4/20 | - | 1 |
15-65694819-G-A | c.570C>T | p.I190= | Synonymous | 4/20 | - | 4 |
15-65694819-G-T | c.570C>A | p.I190= | Synonymous | 4/20 | - | 3 |
15-65694968-A-G | c.564-143T>C | - | IntronicSNV | - | 3/19 | 1 |
15-65695136-C-A | c.564-311G>T | - | IntronicSNV | - | 3/19 | 1 |
15-65695136-C-T | c.564-311G>A | - | IntronicSNV | - | 3/19 | 1 |
15-65697468-G-C | c.564-2643C>G | - | IntronicSNV | - | 3/19 | 1 |
15-65697468-G-T | c.564-2643C>A | - | IntronicSNV | - | 3/19 | 1 |
15-65699179-G-A | c.563+3337C>T | - | IntronicSNV | - | 3/19 | 1 |
15-65699960-C-T | c.563+2556G>A | - | IntronicSNV | - | 3/19 | 1 |
15-65702515-C-A | c.563+1G>T | - | IntronicSNV | - | 3/19 | 1 |
15-65702517-G-A | c.562C>T | p.R188W | Missense | 3/20 | - | 2 |
15-65702521-C-G | c.558G>C | p.E186D | Missense | 3/20 | - | 1 |
15-65702523-C-A | c.556G>T | p.E186* | Nonsense | 3/20 | - | 1 |
15-65702523-C-T | c.556G>A | p.E186K | Missense | 3/20 | - | 1 |
15-65702525-CT-C | c.554del | p.E185Gfs*78 | Frameshift | 3/20 | - | 2 |
15-65702529-G-C | c.550C>G | p.P184A | Missense | 3/20 | - | 1 |
15-65702533-TG-CA | c.545_546inv | p.T182M | Missense | 3/20 | - | 1 |
15-65702542-G-C | c.537C>G | p.D179E | Missense | 3/20 | - | 1 |
15-65702542-G-T | c.537C>A | p.D179E | Missense | 3/20 | - | 1 |
15-65702544-C-G | c.535G>C | p.D179H | Missense | 3/20 | - | 1 |
15-65702544-C-T | c.535G>A | p.D179N | Missense | 3/20 | - | 2 |
15-65702545-C-A | c.534G>T | p.K178N | Missense | 3/20 | - | 1 |
15-65702545-C-G | c.534G>C | p.K178N | Missense | 3/20 | - | 1 |
15-65702550-C-T | c.529G>A | p.E177K | Missense | 3/20 | - | 1 |
15-65702551-C-A | c.528G>T | p.W176C | Missense | 3/20 | - | 1 |
15-65702552-C-T | c.527G>A | p.W176* | Nonsense | 3/20 | - | 2 |
15-65702555-G-T | c.524C>A | p.T175N | Missense | 3/20 | - | 1 |
15-65702559-T-G | c.520A>C | p.I174L | Missense | 3/20 | - | 1 |
15-65702560-G-A | c.519C>T | p.I173= | Synonymous | 3/20 | - | 1 |
15-65702560-G-T | c.519C>A | p.I173= | Synonymous | 3/20 | - | 1 |
15-65702567-G-A | c.512C>T | p.A171V | Missense | 3/20 | - | 1 |
15-65702568-C-T | c.511G>A | p.A171T | Missense | 3/20 | - | 1 |
15-65702581-A-G | c.498T>C | p.I166= | Synonymous | 3/20 | - | 1 |
15-65702581-A-T | c.498T>A | p.I166= | Synonymous | 3/20 | - | 1 |
15-65702582-A-G | c.497T>C | p.I166T | Missense | 3/20 | - | 1 |
15-65702586-G-A | c.493C>T | p.H165Y | Missense | 3/20 | - | 1 |
15-65702587-G-A | c.492C>T | p.C164= | Synonymous | 3/20 | - | 1 |
15-65702590-C-T | c.489G>A | p.E163= | Synonymous | 3/20 | - | 1 |
15-65702592-TC-T | c.487del | p.E163Sfs*19 | Frameshift | 3/20 | - | 1 |
15-65702593-A-G | c.486T>C | p.F162= | Synonymous | 3/20 | - | 1 |
15-65702594-A-C | c.485T>G | p.F162C | Missense | 3/20 | - | 1 |
15-65702595-A-T | c.484T>A | p.F162I | Missense | 3/20 | - | 1 |
15-65702597-C-A | c.482G>T | p.R161L | Missense | 3/20 | - | 2 |
15-65702597-C-T | c.482G>A | p.R161H | Missense | 3/20 | - | 1 |
15-65702598-G-A | c.481C>T | p.R161C | Missense | 3/20 | - | 1 |
15-65702607-C-T | c.472G>A | p.G158R | Missense | 3/20 | - | 1 |
15-65702608-G-A | c.471C>T | p.N157= | Synonymous | 3/20 | - | 2 |
15-65702611-C-A | c.468G>T | p.E156D | Missense | 3/20 | - | 1 |
15-65702611-C-G | c.468G>C | p.E156D | Missense | 3/20 | - | 1 |
15-65702611-C-T | c.468G>A | p.E156= | Synonymous | 3/20 | - | 1 |
15-65702612-T-A | c.467A>T | p.E156V | Missense | 3/20 | - | 2 |
15-65702613-C-A | c.466G>T | p.E156* | Nonsense | 3/20 | - | 2 |
15-65702613-C-T | c.466G>A | p.E156K | Missense | 3/20 | - | 1 |
15-65702614-C-A | c.465G>T | p.E155D | Missense | 3/20 | - | 2 |
15-65702614-C-G | c.465G>C | p.E155D | Missense | 3/20 | - | 1 |
15-65702617-C-T | c.462G>A | p.V154= | Synonymous | 3/20 | - | 1 |
15-65702618-A-G | c.461T>C | p.V154A | Missense | 3/20 | - | 4 |
15-65702619-C-A | c.460G>T | p.V154L | Missense | 3/20 | - | 1 |
15-65702619-C-G | c.460G>C | p.V154L | Missense | 3/20 | - | 1 |
15-65702619-C-T | c.460G>A | p.V154M | Missense | 3/20 | - | 1 |
15-65702621-G-A | c.458C>T | p.T153M | Missense | 3/20 | - | 2 |
15-65702622-T-C | c.457A>G | p.T153A | Missense | 3/20 | - | 1 |
15-65702623-C-A | c.456G>T | p.Q152H | Missense | 3/20 | - | 2 |
15-65702623-C-G | c.456G>C | p.Q152H | Missense | 3/20 | - | 1 |
15-65702627-G-A | c.452C>T | p.S151F | Missense | 3/20 | - | 1 |
15-65702634-G-A | c.445C>T | p.P149S | Missense | 3/20 | - | 1 |
15-65702640-G-C | c.439C>G | p.L147V | Missense | 3/20 | - | 1 |
15-65702642-G-C | c.437C>G | p.S146C | Missense | 3/20 | - | 1 |
15-65702643-A-G | c.436T>C | p.S146P | Missense | 3/20 | - | 1 |
15-65702644-G-C | c.435C>G | p.F145L | Missense | 3/20 | - | 2 |
15-65702644-G-T | c.435C>A | p.F145L | Missense | 3/20 | - | 2 |
15-65702646-A-G | c.433T>C | p.F145L | Missense | 3/20 | - | 2 |
15-65702649-C-A | c.430G>T | p.D144Y | Missense | 3/20 | - | 1 |
15-65702651-G-A | c.428C>T | p.A143V | Missense | 3/20 | - | 1 |
15-65702652-C-T | c.427G>A | p.A143T | Missense | 3/20 | - | 1 |
15-65702655-G-A | c.424C>T | p.L142F | Missense | 3/20 | - | 1 |
15-65702686-G-A | c.422-29C>T | - | IntronicSNV | - | 2/19 | 1 |
15-65702686-G-T | c.422-29C>A | - | IntronicSNV | - | 2/19 | 1 |
15-65703243-A-C | c.421+115T>G | - | IntronicSNV | - | 2/19 | 1 |
15-65703360-G-A | c.419C>T | p.A140V | Missense | 2/20 | - | 1 |
15-65703367-T-A | c.412A>T | p.K138* | Nonsense | 2/20 | - | 1 |
15-65703370-C-T | c.409G>A | p.V137I | Missense | 2/20 | - | 4 |
15-65703377-A-G | c.402T>C | p.T134= | Synonymous | 2/20 | - | 1 |
15-65703378-G-A | c.401C>T | p.T134I | Missense | 2/20 | - | 1 |
15-65703389-C-A | c.390G>T | p.L130= | Synonymous | 2/20 | - | 1 |
15-65703389-C-G | c.390G>C | p.L130= | Synonymous | 2/20 | - | 1 |
15-65703389-C-T | c.390G>A | p.L130= | Synonymous | 2/20 | - | 1 |
15-65703390-A-C | c.389T>G | p.L130R | Missense | 2/20 | - | 1 |
15-65703391-G-A | c.388C>T | p.L130= | Synonymous | 2/20 | - | 2 |
15-65703395-CT-C | c.384del | p.V129Cfs*53 | Frameshift | 2/20 | - | 1 |
15-65703398-G-A | c.381C>T | p.L127= | Synonymous | 2/20 | - | 1 |
15-65703398-G-C | c.381C>G | p.L127= | Synonymous | 2/20 | - | 1 |
15-65703406-C-A | c.373G>T | p.G125C | Missense | 2/20 | - | 1 |
15-65703406-C-T | c.373G>A | p.G125S | Missense | 2/20 | - | 3 |
15-65703412-C-T | c.367G>A | p.A123T | Missense | 2/20 | - | 2 |
15-65703415-G-A | c.364C>T | p.L122= | Synonymous | 2/20 | - | 1 |
15-65703417-C-A | c.362G>T | p.C121F | Missense | 2/20 | - | 1 |
15-65703420-G-T | c.359C>A | p.S120* | Nonsense | 2/20 | - | 1 |
15-65703423-T-A | c.356A>T | p.Y119F | Missense | 2/20 | - | 1 |
15-65703439-C-A | c.340G>T | p.V114F | Missense | 2/20 | - | 1 |
15-65703439-C-G | c.340G>C | p.V114L | Missense | 2/20 | - | 1 |
15-65703441-C-T | c.338G>A | p.G113E | Missense | 2/20 | - | 1 |
15-65703442-C-A | c.337G>T | p.G113W | Missense | 2/20 | - | 1 |
15-65703446-A-C | c.333T>G | p.A111= | Synonymous | 2/20 | - | 1 |
15-65703446-A-G | c.333T>C | p.A111= | Synonymous | 2/20 | - | 1 |
15-65703446-A-T | c.333T>A | p.A111= | Synonymous | 2/20 | - | 1 |
15-65703450-T-A | c.329A>T | p.E110V | Missense | 2/20 | - | 1 |
15-65703454-G-A | c.325C>T | p.P109S | Missense | 2/20 | - | 1 |
15-65703455-G-A | c.324C>T | p.V108= | Synonymous | 2/20 | - | 1 |
15-65703458-T-C | c.321A>G | p.S107= | Synonymous | 2/20 | - | 1 |
15-65703463-C-T | c.316G>A | p.E106K | Missense | 2/20 | - | 2 |
15-65703468-C-T | c.311G>A | p.S104N | Missense | 2/20 | - | 1 |
15-65703477-G-A | c.302C>T | p.P101L | Missense | 2/20 | - | 1 |
15-65703483-A-T | c.296T>A | p.L99Q | Missense | 2/20 | - | 1 |
15-65703484-G-A | c.295C>T | p.L99= | Synonymous | 2/20 | - | 1 |
15-65703485-T-A | c.294A>T | p.P98= | Synonymous | 2/20 | - | 1 |
15-65703485-T-C | c.294A>G | p.P98= | Synonymous | 2/20 | - | 1 |
15-65703485-T-G | c.294A>C | p.P98= | Synonymous | 2/20 | - | 1 |
15-65703486-G-A | c.293C>T | p.P98L | Missense | 2/20 | - | 2 |
15-65703488-C-T | c.291G>A | p.Q97= | Synonymous | 2/20 | - | 1 |
15-65703492-G-A | c.287C>T | p.S96F | Missense | 2/20 | - | 1 |
15-65703493-A-C | c.286T>G | p.S96A | Missense | 2/20 | - | 1 |
15-65703493-A-G | c.286T>C | p.S96P | Missense | 2/20 | - | 4 |
15-65703494-C-A | c.285G>T | p.L95= | Synonymous | 2/20 | - | 2 |
15-65703494-C-G | c.285G>C | p.L95= | Synonymous | 2/20 | - | 2 |
15-65703494-C-T | c.285G>A | p.L95= | Synonymous | 2/20 | - | 2 |
15-65703496-G-A | c.283C>T | p.L95= | Synonymous | 2/20 | - | 2 |
15-65703497-C-T | c.282G>A | p.W94* | Nonsense | 2/20 | - | 1 |
15-65703498-C-T | c.281G>A | p.W94* | Nonsense | 2/20 | - | 1 |
15-65703500-C-A | c.279G>T | p.L93= | Synonymous | 2/20 | - | 1 |
15-65703500-C-G | c.279G>C | p.L93= | Synonymous | 2/20 | - | 1 |
15-65703500-C-T | c.279G>A | p.L93= | Synonymous | 2/20 | - | 1 |
15-65703502-G-A | c.277C>T | p.L93= | Synonymous | 2/20 | - | 1 |
15-65703506-AC-CT | c.272_273delinsAG | p.G91E | Missense | 2/20 | - | 1 |
15-65703507-C-T | c.272G>A | p.G91D | Missense | 2/20 | - | 1 |
15-65703508-C-A | c.271G>T | p.G91C | Missense | 2/20 | - | 1 |
15-65703512-GG-TT | c.266_267delinsAA | p.P89Q | Missense | 2/20 | - | 1 |
15-65703527-G-A | c.252C>T | p.H84= | Synonymous | 2/20 | - | 2 |
15-65703528-T-A | c.251A>T | p.H84L | Missense | 2/20 | - | 1 |
15-65703532-C-A | c.247G>T | p.D83Y | Missense | 2/20 | - | 1 |
15-65703533-G-A | c.246C>T | p.H82= | Synonymous | 2/20 | - | 1 |
15-65703535-G-A | c.244C>T | p.H82Y | Missense | 2/20 | - | 1 |
15-65703535-G-T | c.244C>A | p.H82N | Missense | 2/20 | - | 1 |
15-65703537-T-G | c.242A>C | p.E81A | Missense | 2/20 | - | 1 |
15-65703533-GTGCTCCAGCAGGGTGTCCCCATCCT-G | c.221_245del | p.K74Tfs*18 | Frameshift | 2/20 | - | 1 |
15-65703545-G-A | c.234C>T | p.T78= | Synonymous | 2/20 | - | 1 |
15-65703553-C-G | c.226G>C | p.G76R | Missense | 2/20 | - | 1 |
15-65703553-C-T | c.226G>A | p.G76R | Missense | 2/20 | - | 1 |
15-65703561-C-G | c.218G>C | p.S73T | Missense | 2/20 | - | 2 |
15-65703562-T-C | c.217A>G | p.S73G | Missense | 2/20 | - | 1 |
15-65703569-C-A | c.210G>T | p.V70= | Synonymous | 2/20 | - | 1 |
15-65703569-C-G | c.210G>C | p.V70= | Synonymous | 2/20 | - | 1 |
15-65703569-C-T | c.210G>A | p.V70= | Synonymous | 2/20 | - | 1 |
15-65703576-G-A | c.203C>T | p.T68I | Missense | 2/20 | - | 1 |
15-65703578-G-A | c.201C>T | p.P67= | Synonymous | 2/20 | - | 1 |
15-65703578-G-C | c.201C>G | p.P67= | Synonymous | 2/20 | - | 1 |
15-65703578-GG-TT | c.200_201delinsAA | p.P67Q | Missense | 2/20 | - | 1 |
15-65703578-G-T | c.201C>A | p.P67= | Synonymous | 2/20 | - | 1 |
15-65703577-TGGG-T | c.199_201del | p.P67del | InFrameDeletion | 2/20 | - | 1 |
15-65703582-G-A | c.197C>T | p.P66L | Missense | 2/20 | - | 1 |
15-65703577-T-TG | c.201dup | p.T68Hfs*38 | Frameshift | 2/20 | - | 1 |
15-65703585-C-T | c.194G>A | p.G65E | Missense | 2/20 | - | 1 |
15-65703588-G-A | c.191C>T | p.A64V | Missense | 2/20 | - | 1 |
15-65703589-C-G | c.190G>C | p.A64P | Missense | 2/20 | - | 1 |
15-65703589-C-T | c.190G>A | p.A64T | Missense | 2/20 | - | 3 |
15-65703595-C-T | c.184G>A | p.A62T | Missense | 2/20 | - | 1 |
15-65703600-C-T | c.179G>A | p.G60E | Missense | 2/20 | - | 1 |
15-65703597-GC-G | c.181del | p.A61Lfs*10 | Frameshift | 2/20 | - | 1 |
15-65703611-G-A | c.168C>T | p.N56= | Synonymous | 2/20 | - | 1 |
15-65703613-T-A | c.166A>T | p.N56Y | Missense | 2/20 | - | 1 |
15-65703614-T-A | c.165A>T | p.L55= | Synonymous | 2/20 | - | 1 |
15-65703616-G-T | c.163C>A | p.L55I | Missense | 2/20 | - | 1 |
15-65703617-C-T | c.162G>A | p.V54= | Synonymous | 2/20 | - | 1 |
15-65703623-AGC-CCA | c.154_156delinsTGG | p.A52W | Missense | 2/20 | - | 1 |
15-65703625-C-A | c.154G>T | p.A52S | Missense | 2/20 | - | 2 |
15-65703625-C-G | c.154G>C | p.A52P | Missense | 2/20 | - | 9 |
15-65703630-T-C | c.149A>G | p.E50G | Missense | 2/20 | - | 1 |
15-65703634-G-A | c.145C>T | p.P49S | Missense | 2/20 | - | 1 |
15-65703635-G-A | c.144C>T | p.G48= | Synonymous | 2/20 | - | 1 |
15-65703635-G-C | c.144C>G | p.G48= | Synonymous | 2/20 | - | 1 |
15-65703635-G-T | c.144C>A | p.G48= | Synonymous | 2/20 | - | 1 |
15-65703636-C-T | c.143G>A | p.G48D | Missense | 2/20 | - | 1 |
15-65703637-C-G | c.142G>C | p.G48R | Missense | 2/20 | - | 2 |
15-65703641-G-A | c.138C>T | p.I46= | Synonymous | 2/20 | - | 2 |
15-65703646-C-T | c.133G>A | p.V45M | Missense | 2/20 | - | 3 |
15-65703651-A-T | c.128T>A | p.L43Q | Missense | 2/20 | - | 2 |
15-65703655-G-A | c.124C>T | p.P42S | Missense | 2/20 | - | 1 |
15-65703658-C-G | c.121G>C | p.G41R | Missense | 2/20 | - | 1 |
15-65703663-C-T | c.116G>A | p.G39E | Missense | 2/20 | - | 1 |
15-65703670-T-A | c.109A>T | p.S37C | Missense | 2/20 | - | 1 |
15-65703672-A-G | c.107T>C | p.L36P | Missense | 2/20 | - | 2 |
15-65703674-C-T | c.105G>A | p.E35= | Synonymous | 2/20 | - | 1 |
15-65703675-T-A | c.104A>T | p.E35V | Missense | 2/20 | - | 1 |
15-65703680-CAGT-C | c.97_99del | p.T33del | InFrameDeletion | 2/20 | - | 1 |
15-65703685-T-C | c.94A>G | p.T32A | Missense | 2/20 | - | 1 |
15-65703691-G-A | c.88C>T | p.Q30* | Nonsense | 2/20 | - | 2 |
15-65703694-G-T | c.85C>A | p.P29T | Missense | 2/20 | - | 2 |
15-65703695-C-T | c.84G>A | p.L28= | Synonymous | 2/20 | - | 1 |
15-65703697-A-G | c.82T>C | p.L28= | Synonymous | 2/20 | - | 1 |
15-65703702-A-G | c.77T>C | p.L26P | Missense | 2/20 | - | 1 |
15-65703704-C-T | c.75G>A | p.E25= | Synonymous | 2/20 | - | 2 |
15-65703707-C-T | c.72G>A | p.G24= | Synonymous | 2/20 | - | 1 |
15-65705116-A-G | c.71-1408T>C | - | IntronicSNV | - | 1/19 | 1 |
15-65705116-A-T | c.71-1408T>A | - | IntronicSNV | - | 1/19 | 1 |
15-65705971-C-T | c.71-2263G>A | - | IntronicSNV | - | 1/19 | 3 |
15-65710153-C-A | c.70+4978G>T | - | IntronicSNV | - | 1/19 | 1 |
15-65714332-C-T | c.70+799G>A | - | IntronicSNV | - | 1/19 | 1 |
15-65714746-G-C | c.70+385C>G | - | IntronicSNV | - | 1/19 | 1 |
15-65714746-G-T | c.70+385C>A | - | IntronicSNV | - | 1/19 | 1 |
15-65715131-C-T | c.70G>A | p.G24R | Missense | 1/20 | - | 1 |
15-65715136-GC-TT | c.64_65delinsAA | p.A22K | Missense | 1/20 | - | 1 |
15-65715138-G-A | c.63C>T | p.A21= | Synonymous | 1/20 | - | 1 |
15-65715138-G-C | c.63C>G | p.A21= | Synonymous | 1/20 | - | 1 |
15-65715138-G-T | c.63C>A | p.A21= | Synonymous | 1/20 | - | 1 |
15-65715148-C-A | c.53G>T | p.C18F | Missense | 1/20 | - | 1 |
15-65715155-T-C | c.46A>G | p.T16A | Missense | 1/20 | - | 1 |
15-65715159-CGC-ATA | c.40_42delinsTAT | p.A14Y | Missense | 1/20 | - | 1 |
15-65715160-G-T | c.41C>A | p.A14E | Missense | 1/20 | - | 1 |
15-65715165-G-A | c.36C>T | p.L12= | Synonymous | 1/20 | - | 1 |
15-65715171-G-A | c.30C>T | p.R10= | Synonymous | 1/20 | - | 9 |
15-65715171-G-C | c.30C>G | p.R10= | Synonymous | 1/20 | - | 6 |
15-65715171-G-T | c.30C>A | p.R10= | Synonymous | 1/20 | - | 1 |
15-65715172-CG-GT | c.28_29delinsAC | p.R10T | Missense | 1/20 | - | 1 |
15-65715172-C-T | c.29G>A | p.R10H | Missense | 1/20 | - | 1 |
15-65715174-G-A | c.27C>T | p.G9= | Synonymous | 1/20 | - | 1 |
15-65715174-G-C | c.27C>G | p.G9= | Synonymous | 1/20 | - | 1 |
15-65715174-G-T | c.27C>A | p.G9= | Synonymous | 1/20 | - | 1 |
15-65715179-G-A | c.22C>T | p.R8C | Missense | 1/20 | - | 1 |
15-65715193-C-T | c.8G>A | p.R3Q | Missense | 1/20 | - | 1 |