IGDCC4

IGDCC4 immunoglobulin superfamily DCC subclass member 4

Annotation transcript: NM_020962.3

1167 unique variant annotations were identified in 386 publications

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