NPC1 NPC intracellular cholesterol transporter 1

Canonical transcript: NM_000271

624 unique variant annotations were identified in 346 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
18-21112182-C-T c.3821G>A p.Arg1274Gln Missense 25/25 - 1
18-21112183-G-A c.3820C>T p.Arg1274Trp Missense 25/25 - 1
18-21112185-T-C c.3818A>G p.Glu1273Gly Missense 25/25 - 1
18-21112186-C-T c.3817G>A p.Glu1273Lys Missense 25/25 - 1
18-21112189-G-A c.3814C>T p.Arg1272Cys Missense 25/25 - 1
18-21112192-C-G c.3811G>C p.Glu1271Gln Missense 25/25 - 1
18-21112203-T-C c.3800A>G p.Tyr1267Cys Missense 25/25 - 1
18-21112204-A-C c.3799T>G p.Tyr1267Asp Missense 25/25 - 1
18-21112206-C-T c.3797G>A p.Arg1266Gln Missense 25/25 - 6
18-21112207-G-A c.3796C>T p.Arg1266* Nonsense 25/25 - 1
18-21113285-T-C c.3754+34A>G - IntronicSNV - 24/24 2
18-21113328-T-C c.3745A>G p.Ser1249Gly Missense 24/25 - 1
18-21113329-TGAGT-T c.3742_3745del p.Leu1248Valfs*3 Frameshift 24/25 - 3
18-21113338-CAG-C c.3734_3735del p.Pro1245Argfs*12 Frameshift 24/25 - 3
18-21113339-GG-TG c.3734delinsA p.Pro1245His Missense 24/25 - 1
18-21113342-A-G c.3731T>C p.Leu1244Pro Missense 24/25 - 2
18-21113351-A-G c.3722T>C p.Leu1241Ser Missense 24/25 - 1
18-21113355-C-G c.3718G>C p.Gly1240Arg Missense 24/25 - 1
18-21113355-C-T c.3718G>A p.Gly1240Arg Missense 24/25 - 1
18-21113384-A-G c.3689T>C p.Leu1230Ser Missense 24/25 - 2
18-21113398-GTA-GAG c.3673_3674delinsCT p.Tyr1225Leu Missense 24/25 - 1
18-21113406-T-C c.3667A>G p.Ile1223Val Missense 24/25 - 1
18-21113414-AA-A c.3662del p.Phe1221Serfs*21 Frameshift 24/25 - 1
18-21113434-C-A c.3639G>T p.Leu1213Phe Missense 24/25 - 1
18-21113434-C-G c.3639G>C p.Leu1213Phe Missense 24/25 - 1
18-21113439-C-A c.3634G>T p.Val1212Leu Missense 24/25 - 2
18-21113454-A-G c.3619T>C p.Phe1207Leu Missense 24/25 - 1
18-21113459-G-C c.3614C>G p.Thr1205Arg Missense 24/25 - 3
18-21113459-G-T c.3614C>A p.Thr1205Lys Missense 24/25 - 6
18-21113460-T-TT c.3613dup p.Thr1205Asnfs*53 Frameshift 24/25 - 2
18-21113475-T-C c.3598A>G p.Ser1200Gly Missense 24/25 - 3
18-21113486-AAAGAA-A c.3592-7_3592-3del - IntronicDeletion - 23/24 1
18-21114406-CT-C c.3591+4del - IntronicDeletion - 23/24 1
18-21114408-A-G c.3591+2T>C - IntronicSNV - 23/24 1
18-21114409-C-T c.3591+1G>A - IntronicSNV - 23/24 3
18-21114415-CTGC-C c.3586_3588del p.Ser1197del InFrameDeletion 23/25 - 1
18-21114417-C-A c.3584G>T p.Gly1195Val Missense 23/25 - 2
18-21114424-G-A c.3577C>T p.His1193Tyr Missense 23/25 - 1
18-21114430-G-A c.3571C>T p.Leu1191Phe Missense 23/25 - 2
18-21114435-T-C c.3566A>G p.Glu1189Gly Missense 23/25 - 5
18-21114436-C-CC c.3565dup p.Glu1189Glyfs*69 Frameshift 23/25 - 2
18-21114440-C-A c.3561G>T p.Ala1187Ala Synonymous 23/25 - 1
18-21114440-C-T c.3561G>A p.Ala1187Ala Synonymous 23/25 - 1
18-21114441-G-A c.3560C>T p.Ala1187Val Missense 23/25 - 1
18-21114441-G-C c.3560C>G p.Ala1187Gly Missense 23/25 - 1
18-21114443-CG-C c.3558del p.Ala1187Argfs*55 Frameshift 23/25 - 2
18-21114444-C-T c.3557G>A p.Arg1186His Missense 23/25 - 11
18-21114445-G-A c.3556C>T p.Arg1186Cys Missense 23/25 - 1
18-21114445-G-C c.3556C>G p.Arg1186Gly Missense 23/25 - 5
18-21114451-C-T c.3550G>A p.Val1184Met Missense 23/25 - 1
18-21114453-C-T c.3548G>A p.Arg1183His Missense 23/25 - 1
18-21114466-T-C c.3535A>G p.Met1179Val Missense 23/25 - 2
18-21114469-T-C c.3532A>G p.Ser1178Gly Missense 23/25 - 1
18-21114484-T-C c.3517A>G p.Arg1173Gly Missense 23/25 - 1
18-21114495-C-A c.3506G>T p.Ser1169Ile Missense 23/25 - 1
18-21114498-C-T c.3503G>A p.Cys1168Tyr Missense 23/25 - 5
18-21114500-G-C c.3501C>G p.Phe1167Leu Missense 23/25 - 1
18-21114501-A-C c.3500T>G p.Phe1167Cys Missense 23/25 - 1
18-21114508-C-T c.3493G>A p.Val1165Met Missense 23/25 - 7
18-21114516-C-A c.3485G>T p.Gly1162Val Missense 23/25 - 1
18-21114516-C-G c.3485G>C p.Gly1162Ala Missense 23/25 - 1
18-21114516-C-T c.3485G>A p.Gly1162Asp Missense 23/25 - 1
18-21114519-C-T c.3482G>A p.Cys1161Tyr Missense 23/25 - 1
18-21114529-A-T c.3478-6T>A - IntronicSNV - 22/24 3
18-21115429-T-C c.3477+4A>G - IntronicSNV - 22/24 1
18-21115434-A-G c.3476T>C p.Met1159Thr Missense 22/25 - 1
18-21115436-C-A c.3474G>T p.Val1158Val Synonymous 22/25 - 1
18-21115436-C-G c.3474G>C p.Val1158Val Synonymous 22/25 - 1
18-21115436-C-T c.3474G>A p.Val1158Val Synonymous 22/25 - 1
18-21115438-C-T c.3472G>A p.Val1158Met Missense 22/25 - 1
18-21115443-T-C c.3467A>G p.Asn1156Ser Missense 22/25 - 10
18-21115459-C-T c.3451G>A p.Ala1151Thr Missense 22/25 - 3
18-21115460-G-T c.3450C>A p.Asn1150Lys Missense 22/25 - 1
18-21115481-C-T c.3429G>A p.Trp1143* Nonsense 22/25 - 1
18-21115482-C-T c.3428G>A p.Trp1143* Nonsense 22/25 - 1
18-21115483-A-G c.3427T>C p.Trp1143Arg Missense 22/25 - 1
18-21115483-A-T c.3427T>A p.Trp1143Arg Missense 22/25 - 1
18-21115485-A-G c.3425T>C p.Met1142Thr Missense 22/25 - 4
18-21115488-A-C c.3422T>G p.Val1141Gly Missense 22/25 - 2
18-21115500-T-C c.3410A>G p.Asn1137Ser Missense 22/25 - 1
18-21115516-C-G c.3394G>C p.Ala1132Pro Missense 22/25 - 3
18-21115516-C-T c.3394G>A p.Ala1132Thr Missense 22/25 - 1
18-21115529-C-A c.3381G>T p.Met1127Ile Missense 22/25 - 1
18-21115529-C-G c.3381G>C p.Met1127Ile Missense 22/25 - 1
18-21115529-C-T c.3381G>A p.Met1127Ile Missense 22/25 - 1
18-21115530-A-AA c.3380dup p.Met1127Ilefs*131 Frameshift 22/25 - 1
18-21115546-A-G c.3364T>C p.Trp1122Arg Missense 22/25 - 1
18-21115553-A-G c.3357T>C p.Cys1119Cys Synonymous 22/25 - 1
18-21115553-A-T c.3357T>A p.Cys1119* Nonsense 22/25 - 1
18-21115567-C-A c.3343G>T p.Val1115Phe Missense 22/25 - 2
18-21115602-C-A c.3308G>T p.Gly1103Val Missense 22/25 - 1
18-21115621-C-T c.3289G>A p.Asp1097Asn Missense 22/25 - 3
18-21115622-CGTC-C c.3289_3291del p.Asp1097del InFrameDeletion 22/25 - 1
18-21115625-CAAT-C c.3283_3285del p.Ile1095del InFrameDeletion 22/25 - 1
18-21115629-A-G c.3281T>C p.Ile1094Thr Missense 22/25 - 1
18-21115645-C-T c.3265G>A p.Glu1089Lys Missense 22/25 - 5
18-21115647-T-C c.3263A>G p.Tyr1088Cys Missense 22/25 - 3
18-21115651-A-G c.3259T>C p.Phe1087Leu Missense 22/25 - 3
18-21115664-A-T c.3246T>A p.Ser1082Arg Missense 22/25 - 1
18-21115666-T-C c.3246-2A>G - IntronicSNV - 21/24 1
18-21116637-C-CC c.3245+1dup - SpliceDonorInsertion 21/25 - 1
18-21116639-G-C c.3243C>G p.Tyr1081* Nonsense 21/25 - 1
18-21116639-G-T c.3243C>A p.Tyr1081* Nonsense 21/25 - 1
18-21116646-A-G c.3236T>C p.Phe1079Ser Missense 21/25 - 1
18-21116645-A-C c.3237T>G p.Phe1079Leu Missense 21/25 - 1
18-21116645-A-T c.3237T>A p.Phe1079Leu Missense 21/25 - 1
18-21116647-A-G c.3235T>C p.Phe1079Leu Missense 21/25 - 1
18-21116653-G-A c.3229C>T p.Arg1077* Nonsense 21/25 - 1
18-21116654-G-A c.3228C>T p.Tyr1076Tyr Synonymous 21/25 - 1
18-21116665-C-T c.3217G>A p.Gly1073Ser Missense 21/25 - 2
18-21116698-C-T c.3184G>A p.Ala1062Thr Missense 21/25 - 1
18-21116700-A-G c.3182T>C p.Ile1061Thr Missense 21/25 - 131
18-21116702-A-C c.3180T>G p.Leu1060Leu Synonymous 21/25 - 1
18-21116702-A-G c.3180T>C p.Leu1060Leu Synonymous 21/25 - 1
18-21116702-A-T c.3180T>A p.Leu1060Leu Synonymous 21/25 - 1
18-21116703-A-G c.3179T>C p.Leu1060Pro Missense 21/25 - 1
18-21116706-C-T c.3176G>A p.Arg1059Gln Missense 21/25 - 3
18-21116707-G-A c.3175C>T p.Arg1059* Nonsense 21/25 - 2
18-21116712-T-C c.3170A>G p.Lys1057Arg Missense 21/25 - 2
18-21116712-T-G c.3170A>C p.Lys1057Thr Missense 21/25 - 1
18-21116722-C-T c.3160G>A p.Ala1054Thr Missense 21/25 - 3
18-21116747-C-CC c.3135dup p.Gln1046Alafs*5 Frameshift 21/25 - 1
18-21116748-A-G c.3134T>C p.Leu1045Pro Missense 21/25 - 2
18-21116775-G-A c.3107C>T p.Thr1036Met Missense 21/25 - 9
18-21116778-G-A c.3104C>T p.Ala1035Val Missense 21/25 - 5
18-21116782-C-G c.3100G>C p.Gly1034Arg Missense 21/25 - 1
18-21116782-C-T c.3100G>A p.Gly1034Arg Missense 21/25 - 1
18-21116798-GGC-G c.3083_3084del p.Gly1028Alafs*22 Frameshift 21/25 - 1
18-21116814-A-C c.3068T>G p.Val1023Gly Missense 21/25 - 1
18-21116823-C-G c.3059G>C p.Ser1020Thr Missense 21/25 - 1
18-21116826-T-C c.3056A>G p.Tyr1019Cys Missense 21/25 - 3
18-21116830-C-T c.3052G>A p.Ala1018Thr Missense 21/25 - 1
18-21116835-T-A c.3047A>T p.His1016Leu Missense 21/25 - 3
18-21116835-T-C c.3047A>G p.His1016Arg Missense 21/25 - 1
18-21116845-G-A c.3042-5C>T - IntronicSNV - 20/24 1
18-21118509-TTTGCCAC-T c.3032_3038del p.Cys1011* Frameshift 20/25 - 1
18-21118513-C-A c.3034G>T p.Gly1012Cys Missense 20/25 - 1
18-21118519-T-G c.3028A>C p.Lys1010Gln Missense 20/25 - 1
18-21118525-T-G c.3022A>C p.Asn1008His Missense 20/25 - 1
18-21118527-G-A c.3020C>T p.Pro1007Leu Missense 20/25 - 2
18-21118527-G-C c.3020C>G p.Pro1007Arg Missense 20/25 - 1
18-21118528-G-C c.3019C>G p.Pro1007Ala Missense 20/25 - 51
18-21118533-T-C c.3014A>G p.Asp1005Gly Missense 20/25 - 22
18-21118536-G-A c.3011C>T p.Ser1004Leu Missense 20/25 - 6
18-21118537-A-G c.3010T>C p.Ser1004Pro Missense 20/25 - 1
18-21118539-A-C c.3008T>G p.Leu1003Arg Missense 20/25 - 1
18-21118545-A-G c.3002T>C p.Met1001Thr Missense 20/25 - 1
18-21118546-T-C c.3001A>G p.Met1001Val Missense 20/25 - 1
18-21118568-T-TT c.2979dup p.Asp994Argfs*13 Frameshift 20/25 - 4
18-21118569-C-G c.2978G>C p.Gly993Ala Missense 20/25 - 1
18-21118569-C-T c.2978G>A p.Gly993Glu Missense 20/25 - 1
18-21118572-C-G c.2975G>C p.Gly992Ala Missense 20/25 - 1
18-21118573-C-A c.2974G>T p.Gly992Trp Missense 20/25 - 20
18-21118573-C-G c.2974G>C p.Gly992Arg Missense 20/25 - 13
18-21118574-CC-C c.2978del p.Gly993Glufs*4 Frameshift 20/25 - 3
18-21118574-CCT-C c.2972_2973del p.Gln991Argfs*15 Frameshift 20/25 - 3
18-21118591-C-T c.2956G>A p.Gly986Ser Missense 20/25 - 4
18-21118615-G-A c.2932C>T p.Arg978Cys Missense 20/25 - 9
18-21118620-C-A c.2927G>T p.Cys976Phe Missense 20/25 - 1
18-21118621-A-G c.2926T>C p.Cys976Arg Missense 20/25 - 2
18-21118624-GCAGG-G c.2925_2928del p.Cys976Phefs*6 Frameshift 20/25 - 2
18-21118626-G-A c.2921C>T p.Pro974Leu Missense 20/25 - 1
18-21118634-C-T c.2913G>A p.Val971Val Synonymous 20/25 - 1
18-21118638-G-C c.2912-3C>G - IntronicSNV - 19/24 1
18-21118640-C-T c.2912-5G>A - IntronicSNV - 19/24 1
18-21119291-A-G c.2911+28T>C - IntronicSNV - 19/24 1
18-21119291-A-T c.2911+28T>A - IntronicSNV - 19/24 1
18-21119315-G-A c.2911+4C>T - IntronicSNV - 19/24 1
18-21119327-T-C c.2903A>G p.Asn968Ser Missense 19/25 - 3
18-21119333-GAACTGGTCAGTGATA-G c.2883_2897del p.Ile962_Phe966del InFrameDeletion 19/25 - 1
18-21119335-ACTGGTCAGTG-A c.2886_2895del p.Thr963Serfs*17 Frameshift 19/25 - 1
18-21119348-T-C c.2882A>G p.Asn961Ser Missense 19/25 - 3
18-21119348-T-G c.2882A>C p.Asn961Thr Missense 19/25 - 1
18-21119354-A-T c.2876T>A p.Val959Glu Missense 19/25 - 1
18-21119357-C-T c.2873G>A p.Arg958Gln Missense 19/25 - 3
18-21119358-G-A c.2872C>T p.Arg958* Nonsense 19/25 - 4
18-21119363-C-T c.2867G>A p.Cys956Tyr Missense 19/25 - 1
18-21119369-G-A c.2861C>T p.Ser954Leu Missense 19/25 - 12
18-21119381-A-C c.2849T>G p.Val950Gly Missense 19/25 - 3
18-21119382-C-T c.2848G>A p.Val950Met Missense 19/25 - 8
18-21119388-C-A c.2842G>T p.Asp948Tyr Missense 19/25 - 1
18-21119388-C-T c.2842G>A p.Asp948Asn Missense 19/25 - 3
18-21119397-C-T c.2833G>A p.Asp945Asn Missense 19/25 - 3
18-21119400-C-T c.2830G>A p.Asp944Asn Missense 19/25 - 2
18-21119401-G-A c.2829C>T p.Ile943Ile Synonymous 19/25 - 1
18-21119401-G-C c.2829C>G p.Ile943Met Missense 19/25 - 3
18-21119403-T-C c.2827A>G p.Ile943Val Missense 19/25 - 1
18-21119404-C-A c.2826G>T p.Trp942Cys Missense 19/25 - 2
18-21119411-G-A c.2819C>T p.Ser940Leu Missense 19/25 - 15
18-21119411-G-T c.2819C>A p.Ser940* Nonsense 19/25 - 1
18-21119429-C-T c.2801G>A p.Arg934Gln Missense 19/25 - 4
18-21119430-G-A c.2800C>T p.Arg934* Nonsense 19/25 - 6
18-21119438-G-A c.2796-4C>T - IntronicSNV - 18/24 1
18-21119774-C-G c.2795+1G>C - IntronicSNV - 18/24 2
18-21119775-T-TT c.2795dup p.Tyr932* SpliceDonorInsertion 18/25 - 2
18-21119777-G-A c.2793C>T p.Asn931Asn Synonymous 18/25 - 6
18-21119777-G-C c.2793C>G p.Asn931Lys Missense 18/25 - 4
18-21119784-A-G c.2786T>C p.Leu929Pro Missense 18/25 - 1
18-21119787-T-G c.2783A>C p.Gln928Pro Missense 18/25 - 1
18-21119790-G-A c.2780C>T p.Ala927Val Missense 18/25 - 4
18-21119793-G-A c.2777C>T p.Ala926Val Missense 18/25 - 2
18-21119803-T-C c.2767A>G p.Ile923Val Missense 18/25 - 2
18-21119806-G-A c.2764C>T p.Gln922* Nonsense 18/25 - 1
18-21119808-T-G c.2762A>C p.Gln921Pro Missense 18/25 - 1
18-21119809-G-A c.2761C>T p.Gln921* Nonsense 18/25 - 1
18-21119811-A-C c.2759T>G p.Val920Gly Missense 18/25 - 1
18-21119822-CATT-C c.2746_2748del p.Asn916del InFrameDeletion 18/25 - 2
18-21119830-A-T c.2740T>A p.Cys914Ser Missense 18/25 - 2
18-21119839-C-T c.2731G>A p.Gly911Ser Missense 18/25 - 1
18-21119842-C-T c.2728G>A p.Gly910Ser Missense 18/25 - 4
18-21119844-CA-GC c.2725_2726delinsGC p.Cys909Ala Missense 18/25 - 1
18-21119857-G-A c.2713C>T p.Gln905* Nonsense 18/25 - 1
18-21119861-CC-C c.2712del p.Gln905Argfs*31 Frameshift 18/25 - 1
18-21119865-G-C c.2705C>G p.Ser902Cys Missense 18/25 - 1
18-21119878-C-T c.2692G>A p.Asp898Asn Missense 18/25 - 2
18-21119888-C-CC c.2683dup p.Glu895Glyfs*23 Frameshift 18/25 - 1
18-21119905-C-T c.2665G>A p.Val889Met Missense 18/25 - 1
18-21119908-G-A c.2662C>T p.Pro888Ser Missense 18/25 - 3
18-21119910-G-A c.2660C>T p.Pro887Leu Missense 18/25 - 3
18-21119914-C-G c.2656G>C p.Gly886Arg Missense 18/25 - 1
18-21119915-C-CC c.2657dup p.Pro887Serfs*31 Frameshift 18/25 - 1
18-21119949-T-A c.2621A>T p.Asp874Val Missense 18/25 - 11
18-21119962-A-G c.2608T>C p.Ser870Pro Missense 18/25 - 1
18-21119974-AAAGA-A c.2605-6_2605-3del - IntronicDeletion - 17/24 1
18-21120419-A-G c.2597T>C p.Met866Thr Missense 17/25 - 1
18-21120422-G-A c.2594C>T p.Ser865Leu Missense 17/25 - 2
18-21120429-A-G c.2587T>C p.Ser863Pro Missense 17/25 - 2
18-21120444-T-A c.2572A>T p.Ile858Phe Missense 17/25 - 4
18-21120444-T-C c.2572A>G p.Ile858Val Missense 17/25 - 15
18-21120465-C-T c.2551G>A p.Ala851Thr Missense 17/25 - 1
18-21120479-A-G c.2537T>C p.Leu846Pro Missense 17/25 - 1
18-21120491-A-G c.2525T>C p.Phe842Ser Missense 17/25 - 1
18-21120492-A-G c.2524T>C p.Phe842Leu Missense 17/25 - 2
18-21120494-A-T c.2522T>A p.Ile841Lys Missense 17/25 - 1
18-21120500-A-C c.2516T>G p.Ile839Arg Missense 17/25 - 1
18-21120869-A-G c.2514+163T>C - IntronicSNV - 16/24 3
18-21121037-T-C c.2509A>G p.Ile837Val Missense 16/25 - 2
18-21121045-A-G c.2501T>C p.Met834Thr Missense 16/25 - 1
18-21121057-A-G c.2489T>C p.Leu830Pro Missense 16/25 - 1
18-21121063-AAGTGGAGAA-A c.2476_2484del p.Ser826_Leu828del InFrameDeletion 16/25 - 1
18-21121072-T-C c.2474A>G p.Tyr825Cys Missense 16/25 - 2
18-21121081-T-TA c.2464_2465insT p.Lys822Ilefs*48 Frameshift 16/25 - 1
18-21121106-TCT-T c.2443_2444del p.Ser815Leufs*54 Frameshift 16/25 - 1
18-21121108-G-C c.2438C>G p.Ser813* Nonsense 16/25 - 1
18-21121118-C-A c.2428G>T p.Val810Phe Missense 16/25 - 2
18-21121118-C-G c.2428G>C p.Val810Leu Missense 16/25 - 1
18-21121148-A-G c.2398T>C p.Cys800Arg Missense 16/25 - 1
18-21121174-T-C c.2374-2A>G - IntronicSNV - 15/24 1
18-21121277-C-T c.2366G>A p.Arg789His Missense 15/25 - 2
18-21121278-G-A c.2365C>T p.Arg789Cys Missense 15/25 - 1
18-21121278-G-C c.2365C>G p.Arg789Gly Missense 15/25 - 1
18-21121284-T-C c.2359A>G p.Ile787Val Missense 15/25 - 1
18-21121287-C-T c.2356G>A p.Asp786Asn Missense 15/25 - 1
18-21121289-A-G c.2354T>C p.Leu785Ser Missense 15/25 - 1
18-21121305-C-T c.2338G>A p.Val780Met Missense 15/25 - 1
18-21121308-A-G c.2335T>C p.Phe779Leu Missense 15/25 - 1
18-21121309-A-AA c.2336dup p.Val780Argfs*9 Frameshift 15/25 - 1
18-21121309-AA-A c.2336del p.Phe779Serfs*2 Frameshift 15/25 - 1
18-21121319-T-G c.2324A>C p.Gln775Pro Missense 15/25 - 7
18-21121341-C-CC c.2302dup p.Val768Glyfs*4 Frameshift 15/25 - 1
18-21121345-CAA-ATC c.2296_2298delinsGAT p.Leu766Asp Missense 15/25 - 1
18-21121349-CC-AA c.2293_2294delinsTT p.Gly765Leu Missense 15/25 - 1
18-21121351-C-A c.2292G>T p.Ala764Ala Synonymous 15/25 - 1
18-21121351-C-G c.2292G>C p.Ala764Ala Synonymous 15/25 - 1
18-21121351-C-T c.2292G>A p.Ala764Ala Synonymous 15/25 - 2
18-21121352-G-A c.2291C>T p.Ala764Val Missense 15/25 - 1
18-21121364-GAAG-G c.2279_2281del p.Phe760del InFrameDeletion 15/25 - 1
18-21121386-C-T c.2257G>A p.Val753Met Missense 15/25 - 2
18-21123418-C-T c.2245+1G>A - IntronicSNV - 14/24 1
18-21123434-ACA-A c.2230_2231del p.Val744Serfs*27 Frameshift 14/25 - 2
18-21123451-G-T c.2213C>A p.Ser738* Nonsense 14/25 - 1
18-21123455-G-C c.2209C>G p.Leu737Val Missense 14/25 - 1
18-21123463-C-A c.2201G>T p.Ser734Ile Missense 14/25 - 1
18-21123466-G-C c.2198C>G p.Pro733Arg Missense 14/25 - 2
18-21123466-G-GA c.2197_2198insT p.Pro733Leufs*10 Frameshift 14/25 - 1
18-21123468-A-AA c.2196dup p.Pro733Serfs*10 Frameshift 14/25 - 3
18-21123478-C-T c.2186G>A p.Gly729Glu Missense 14/25 - 1
18-21123487-C-G c.2177G>C p.Arg726Thr Missense 14/25 - 2
18-21123493-A-G c.2171T>C p.Leu724Pro Missense 14/25 - 1
18-21123523-C-T c.2141G>A p.Arg714His Missense 14/25 - 1
18-21123534-C-G c.2131-1G>C - IntronicSNV - 13/24 1
18-21124310-G-A c.2128C>T p.Gln710* Nonsense 13/25 - 1
18-21124330-A-G c.2108T>C p.Phe703Ser Missense 13/25 - 2
18-21124335-G-C c.2103C>G p.Asn701Lys Missense 13/25 - 6
18-21124335-G-T c.2103C>A p.Asn701Lys Missense 13/25 - 6
18-21124337-T-TT c.2102dup p.Asn701Lysfs*13 Frameshift 13/25 - 2
18-21124340-C-T c.2098G>A p.Asp700Asn Missense 13/25 - 1
18-21124348-A-G c.2090T>C p.Val697Ala Missense 13/25 - 2
18-21124353-C-A c.2085G>T p.Leu695Leu Synonymous 13/25 - 1
18-21124353-C-G c.2085G>C p.Leu695Leu Synonymous 13/25 - 1
18-21124353-C-T c.2085G>A p.Leu695Leu Synonymous 13/25 - 1
18-21124355-G-A c.2083C>T p.Leu695Leu Synonymous 13/25 - 1
18-21124355-G-C c.2083C>G p.Leu695Val Missense 13/25 - 1
18-21124358-C-T c.2080G>A p.Val694Met Missense 13/25 - 1
18-21124366-G-A c.2072C>T p.Pro691Leu Missense 13/25 - 2
18-21124367-G-A c.2071C>T p.Pro691Ser Missense 13/25 - 12
18-21124384-A-C c.2054T>G p.Ile685Ser Missense 13/25 - 1
18-21124384-A-G c.2054T>C p.Ile685Thr Missense 13/25 - 1
18-21124411-C-G c.2027G>C p.Ser676Thr Missense 13/25 - 1
18-21124419-CAC-C c.2020_2021del p.Val674Leufs*14 Frameshift 13/25 - 1
18-21124420-C-A c.2018G>T p.Gly673Val Missense 13/25 - 1
18-21124428-G-C c.2010C>G p.Cys670Trp Missense 13/25 - 1
18-21124430-CAAGC-C c.2008_2011del p.Cys670Profs*12 Frameshift 13/25 - 3
18-21124438-G-A c.2000C>T p.Ser667Leu Missense 13/25 - 2
18-21124438-G-C c.2000C>G p.Ser667Trp Missense 13/25 - 1
18-21124441-C-T c.1997G>A p.Ser666Asn Missense 13/25 - 2
18-21124448-C-T c.1990G>A p.Val664Met Missense 13/25 - 5
18-21124449-G-C c.1989C>G p.Ile663Met Missense 13/25 - 1
18-21124450-AT-TG c.1987_1988delinsCA p.Ile663His Missense 13/25 - 1
18-21124460-C-G c.1978G>C p.Gly660Arg Missense 13/25 - 4
18-21124460-C-T c.1978G>A p.Gly660Ser Missense 13/25 - 1
18-21124462-G-A c.1976C>T p.Ala659Val Missense 13/25 - 1
18-21124483-G-C c.1955C>G p.Ser652Trp Missense 13/25 - 2
18-21124801-A-C c.1947+123T>G - IntronicSNV - 12/24 1
18-21124919-C-G c.1947+5G>C - IntronicSNV - 12/24 1
18-21124934-C-T c.1937G>A p.Arg646His Missense 12/25 - 2
18-21124935-G-A c.1936C>T p.Arg646Cys Missense 12/25 - 1
18-21124936-A-T c.1935T>A p.Cys645* Nonsense 12/25 - 1
18-21124945-C-A c.1926G>T p.Met642Ile Missense 12/25 - 11
18-21124945-C-G c.1926G>C p.Met642Ile Missense 12/25 - 13
18-21124945-C-T c.1926G>A p.Met642Ile Missense 12/25 - 11
18-21124946-A-G c.1925T>C p.Met642Thr Missense 12/25 - 2
18-21124954-CC-C c.1920del p.His641Thrfs*2 Frameshift 12/25 - 2
18-21124967-A-G c.1904T>C p.Ile635Thr Missense 12/25 - 1
18-21124969-A-G c.1902T>C p.Tyr634Tyr Synonymous 12/25 - 1
18-21124970-T-C c.1901A>G p.Tyr634Cys Missense 12/25 - 3
18-21124979-A-C c.1892T>G p.Met631Arg Missense 12/25 - 4
18-21124988-T-C c.1883A>G p.Tyr628Cys Missense 12/25 - 1
18-21124988-T-G c.1883A>C p.Tyr628Ser Missense 12/25 - 1
18-21125001-C-T c.1870G>A p.Val624Ile Missense 12/25 - 1
18-21125013-C-T c.1858G>A p.Asp620Asn Missense 12/25 - 1
18-21125027-C-A c.1844G>T p.Arg615Leu Missense 12/25 - 2
18-21125028-G-A c.1843C>T p.Arg615Cys Missense 12/25 - 2
18-21125033-AG-GA c.1837_1838delinsTC p.Leu613Ser Missense 12/25 - 1
18-21125035-T-G c.1836A>C p.Glu612Asp Missense 12/25 - 8
18-21125039-T-C c.1832A>G p.Asp611Gly Missense 12/25 - 3
18-21125044-AA-GG c.1826_1827delinsCC p.Ile609Thr Missense 12/25 - 1
18-21125052-G-A c.1819C>T p.Arg607* Nonsense 12/25 - 2
18-21125055-C-G c.1816G>C p.Glu606Gln Missense 12/25 - 1
18-21125059-A-AA c.1812dup p.Ala605Cysfs*2 Frameshift 12/25 - 3
18-21125072-GG-G c.1800del p.Ile601Phefs*13 Frameshift 12/25 - 2
18-21125078-T-C c.1793A>G p.Asn598Ser Missense 12/25 - 1
18-21125078-TT-GC c.1792_1793delinsGC p.Asn598Ala Missense 12/25 - 1
18-21125091-A-AA c.1780dup p.Tyr594Leufs*13 Frameshift 12/25 - 1
18-21125105-T-C c.1766A>G p.Asn589Ser Missense 12/25 - 1
18-21126081-A-C c.1758-968T>G - IntronicSNV - 11/24 1
18-21126081-A-T c.1758-968T>A - IntronicSNV - 11/24 1
18-21127970-CT-C c.1757del p.Glu586Glyfs*6 Frameshift 11/25 - 1
18-21127971-C-T c.1756G>A p.Glu586Lys Missense 11/25 - 1
18-21128004-TC-T c.1723del p.Glu575Argfs*17 Frameshift 11/25 - 1
18-21128015-T-C c.1712A>G p.Tyr571Cys Missense 11/25 - 2
18-21128036-G-T c.1691C>A p.Thr564Asn Missense 11/25 - 1
18-21128055-C-A c.1672G>T p.Ala558Ser Missense 11/25 - 2
18-21128055-C-T c.1672G>A p.Ala558Thr Missense 11/25 - 1
18-21128073-C-T c.1655-1G>A - IntronicSNV - 10/24 1
18-21128857-T-C c.1655-785A>G - IntronicSNV - 10/24 1
18-21128857-T-G c.1655-785A>C - IntronicSNV - 10/24 1
18-21131591-C-CC c.1654+1dup - SpliceDonorInsertion 10/25 - 1
18-21131602-C-G c.1643G>C p.Gly548Ala Missense 10/25 - 1
18-21131617-G-A c.1628C>T p.Pro543Leu Missense 10/25 - 4
18-21131619-GG-G c.1628del p.Pro543Argfs*20 Frameshift 10/25 - 3
18-21131633-C-G c.1612G>C p.Gly538Arg Missense 10/25 - 1
18-21131684-C-A c.1561G>T p.Ala521Ser Missense 10/25 - 2
18-21131684-C-G c.1561G>C p.Ala521Pro Missense 10/25 - 1
18-21132700-C-T c.1554-1009G>A - IntronicSNV - 9/24 6
18-21133937-G-A c.1553+785C>T - IntronicSNV - 9/24 2
18-21134239-C-T c.1553+483G>A - IntronicSNV - 9/24 1
18-21134722-C-T c.1553G>A p.Arg518Gln Missense 9/25 - 8
18-21134723-G-A c.1552C>T p.Arg518Trp Missense 9/25 - 11
18-21134726-C-A c.1549G>T p.Val517Leu Missense 9/25 - 1
18-21134726-C-G c.1549G>C p.Val517Leu Missense 9/25 - 1
18-21134726-C-T c.1549G>A p.Val517Ile Missense 9/25 - 1
18-21134728-C-T c.1547G>A p.Cys516Tyr Missense 9/25 - 2
18-21134740-T-C c.1535A>G p.His512Arg Missense 9/25 - 1
18-21134743-G-A c.1532C>T p.Thr511Met Missense 9/25 - 1
18-21134746-T-G c.1529A>C p.His510Pro Missense 9/25 - 3
18-21134749-T-C c.1526A>G p.Tyr509Cys Missense 9/25 - 1
18-21134749-T-G c.1526A>C p.Tyr509Ser Missense 9/25 - 3
18-21134753-C-T c.1522G>A p.Asp508Asn Missense 9/25 - 2
18-21134758-TA-GC c.1516_1517delinsGC p.Tyr506Ala Missense 9/25 - 1
18-21134758-TA-GG c.1516_1517delinsCC p.Tyr506Pro Missense 9/25 - 1
18-21134764-AA-GC c.1510_1511delinsGC p.Phe504Ala Missense 9/25 - 1
18-21134764-AA-GG c.1510_1511delinsCC p.Phe504Pro Missense 9/25 - 2
18-21134767-AA-GC c.1507_1508delinsGC p.Phe503Ala Missense 9/25 - 2
18-21134767-AA-GG c.1507_1508delinsCC p.Phe503Pro Missense 9/25 - 2
18-21134767-A-T c.1508T>A p.Phe503Tyr Missense 9/25 - 1
18-21134769-G-C c.1506C>G p.Asp502Glu Missense 9/25 - 2
18-21134770-TC-TT c.1504delinsA p.Asp502Asn Missense 9/25 - 2
18-21134770-T-G c.1505A>C p.Asp502Ala Missense 9/25 - 1
18-21134773-T-A c.1502A>T p.Asp501Val Missense 9/25 - 1
18-21134774-C-A c.1501G>T p.Asp501Tyr Missense 9/25 - 2
18-21134776-C-T c.1499G>A p.Gly500Glu Missense 9/25 - 1
18-21134779-T-A c.1496A>T p.Lys499Ile Missense 9/25 - 1
18-21134779-TT-GT c.1496delinsC p.Lys499Thr Missense 9/25 - 1
18-21134781-C-A c.1494G>T p.Lys498Asn Missense 9/25 - 1
18-21134781-C-G c.1494G>C p.Lys498Asn Missense 9/25 - 1
18-21134786-G-A c.1489C>T p.His497Tyr Missense 9/25 - 1
18-21134791-A-G c.1484T>C p.Leu495Pro Missense 9/25 - 1
18-21134795-C-T c.1480G>A p.Val494Met Missense 9/25 - 3
18-21134803-C-T c.1472G>A p.Ser491Asn Missense 9/25 - 1
18-21134806-T-G c.1469A>C p.Asn490Thr Missense 9/25 - 1
18-21134842-T-G c.1433A>C p.Asn478Thr Missense 9/25 - 1
18-21134845-G-A c.1430C>T p.Thr477Met Missense 9/25 - 1
18-21134854-G-A c.1421C>T p.Pro474Leu Missense 9/25 - 9
18-21134860-A-G c.1415T>C p.Leu472Pro Missense 9/25 - 6
18-21134863-G-A c.1412C>T p.Pro471Leu Missense 9/25 - 1
18-21134867-C-G c.1408G>C p.Ala470Pro Missense 9/25 - 2
18-21134873-A-C c.1402T>G p.Cys468Gly Missense 9/25 - 2
18-21134908-G-A c.1367C>T p.Ser456Phe Missense 9/25 - 1
18-21134921-T-TA c.1353_1354insT p.Asn452* Nonsense 9/25 - 1
18-21134924-C-T c.1351G>A p.Glu451Lys Missense 9/25 - 2
18-21134927-T-C c.1348A>G p.Ile450Val Missense 9/25 - 1
18-21134929-G-A c.1346C>T p.Ala449Val Missense 9/25 - 1
18-21134944-A-G c.1331T>C p.Leu444Pro Missense 9/25 - 16
18-21136211-T-G c.1322A>C p.His441Pro Missense 8/25 - 1
18-21136212-G-A c.1321C>T p.His441Tyr Missense 8/25 - 1
18-21136214-A-G c.1319T>C p.Leu440Pro Missense 8/25 - 1
18-21136233-G-A c.1300C>T p.Pro434Ser Missense 8/25 - 1
18-21136235-G-A c.1298C>T p.Pro433Leu Missense 8/25 - 2
18-21136254-C-T c.1279G>A p.Ala427Thr Missense 8/25 - 1
18-21136259-G-A c.1274C>T p.Ser425Leu Missense 8/25 - 2
18-21136263-G-C c.1270C>G p.Pro424Ala Missense 8/25 - 3
18-21136265-TA-GC c.1267_1268delinsGC p.Tyr423Ala Missense 8/25 - 1
18-21136265-TA-GG c.1267_1268delinsCC p.Tyr423Pro Missense 8/25 - 1
18-21136271-TG-TC c.1261delinsG p.Gln421Glu Missense 8/25 - 1
18-21136272-G-A c.1261C>T p.Gln421* Nonsense 8/25 - 3
18-21136274-T-G c.1259A>C p.Tyr420Ser Missense 8/25 - 2
18-21136275-A-G c.1258T>C p.Tyr420His Missense 8/25 - 1
18-21136278-T-A c.1255A>T p.Ile419Phe Missense 8/25 - 1
18-21136278-T-C c.1255A>G p.Ile419Val Missense 8/25 - 1
18-21136281-G-C c.1252C>G p.His418Asp Missense 8/25 - 1
18-21136292-AG-AA c.1240delinsT p.Leu414Phe Missense 8/25 - 1
18-21136301-C-G c.1232G>C p.Arg411Pro Missense 8/25 - 2
18-21136301-C-T c.1232G>A p.Arg411Gln Missense 8/25 - 1
18-21136316-T-C c.1217A>G p.Glu406Gly Missense 8/25 - 1
18-21136322-C-T c.1211G>A p.Arg404Gln Missense 8/25 - 9
18-21136323-G-A c.1210C>T p.Arg404Trp Missense 8/25 - 1
18-21136324-GG-G c.1210del p.Arg404Glyfs*45 Frameshift 8/25 - 1
18-21136325-A-G c.1208T>C p.Phe403Ser Missense 8/25 - 1
18-21136328-AA-CC c.1204_1205delinsGG p.Phe402Gly Missense 8/25 - 1
18-21136328-A-G c.1205T>C p.Phe402Ser Missense 8/25 - 1
18-21136332-G-T c.1201C>A p.Pro401Thr Missense 8/25 - 4
18-21136341-G-A c.1192C>T p.His398Tyr Missense 8/25 - 1
18-21136344-G-A c.1189C>T p.Gln397* Nonsense 8/25 - 1
18-21136350-A-AA c.1185dup p.Asp396* Nonsense 8/25 - 1
18-21136353-A-G c.1180T>C p.Tyr394His Missense 8/25 - 2
18-21136361-T-C c.1172A>G p.Glu391Gly Missense 8/25 - 1
18-21136362-C-T c.1171G>A p.Glu391Lys Missense 8/25 - 1
18-21136367-C-T c.1166G>A p.Arg389His Missense 8/25 - 1
18-21136368-G-A c.1165C>T p.Arg389Cys Missense 8/25 - 1
18-21136375-GG-G c.1159del p.Gln387Argfs*62 Frameshift 8/25 - 1
18-21136390-C-A c.1143G>T p.Trp381Cys Missense 8/25 - 1
18-21136390-C-G c.1143G>C p.Trp381Cys Missense 8/25 - 1
18-21136391-CA-GA c.1142delinsC p.Trp381Ser Missense 8/25 - 1
18-21136391-C-T c.1142G>A p.Trp381* Nonsense 8/25 - 1
18-21136395-G-A c.1138C>T p.Leu380Phe Missense 8/25 - 1
18-21136400-A-G c.1133T>C p.Val378Ala Missense 8/25 - 6
18-21136410-T-C c.1123A>G p.Thr375Ala Missense 8/25 - 1
18-21136418-C-T c.1115G>A p.Arg372Gln Missense 8/25 - 1
18-21136419-G-A c.1114C>T p.Arg372Trp Missense 8/25 - 1
18-21136421-GA-G c.1112del p.Val371Alafs*78 Frameshift 8/25 - 1
18-21136425-AA-A c.1110del p.Phe370Leufs*79 Frameshift 8/25 - 1
18-21136437-A-T c.1096T>A p.Ser366Thr Missense 8/25 - 1
18-21136439-G-A c.1094C>T p.Ser365Leu Missense 8/25 - 1
18-21136440-A-G c.1093T>C p.Ser365Pro Missense 8/25 - 2
18-21136463-G-A c.1070C>T p.Ser357Leu Missense 8/25 - 2
18-21136465-G-C c.1068C>G p.Phe356Leu Missense 8/25 - 1
18-21136465-G-T c.1068C>A p.Phe356Leu Missense 8/25 - 1
18-21136467-A-G c.1066T>C p.Phe356Leu Missense 8/25 - 1
18-21136478-C-A c.1055G>T p.Cys352Phe Missense 8/25 - 1
18-21136491-G-A c.1042C>T p.Arg348* Nonsense 8/25 - 4
18-21136494-C-T c.1039G>A p.Val347Ile Missense 8/25 - 1
18-21136503-GA-G c.1030del p.Ser344Leufs*105 Frameshift 8/25 - 1
18-21136505-C-T c.1028G>A p.Gly343Glu Missense 8/25 - 2
18-21136508-C-CC c.1029dup p.Ser344Valfs*36 Frameshift 8/25 - 1
18-21136511-C-G c.1022G>C p.Arg341Pro Missense 8/25 - 1
18-21136520-AG-TC c.1012_1013delinsGA p.Leu338Glu Missense 8/25 - 1
18-21136523-C-T c.1010G>A p.Arg337Gln Missense 8/25 - 1
18-21136532-C-G c.1001G>C p.Cys334Ser Missense 8/25 - 1
18-21136554-C-T c.979G>A p.Val327Ile Missense 8/25 - 1
18-21136557-G-A c.976C>T p.Pro326Ser Missense 8/25 - 1
18-21136567-G-A c.966C>T p.Ser322Ser Synonymous 8/25 - 1
18-21136567-G-C c.966C>G p.Ser322Ser Synonymous 8/25 - 1
18-21136567-G-T c.966C>A p.Ser322Ser Synonymous 8/25 - 1
18-21136571-G-A c.962C>T p.Ala321Val Missense 8/25 - 1
18-21137080-C-T c.955+1G>A - IntronicSNV - 7/24 1
18-21137135-C-T c.901G>A p.Glu301Lys Missense 7/25 - 1
18-21137182-T-C c.882-28A>G - IntronicSNV - 6/24 1
18-21140203-C-A c.873G>T p.Trp291Cys Missense 6/25 - 1
18-21140205-A-G c.871T>C p.Trp291Arg Missense 6/25 - 1
18-21140205-A-T c.871T>A p.Trp291Arg Missense 6/25 - 1
18-21140229-AA-A c.852del p.Phe284Leufs*26 Frameshift 6/25 - 4
18-21140235-G-A c.841C>T p.Leu281Phe Missense 6/25 - 1
18-21140250-A-G c.826T>C p.Tyr276His Missense 6/25 - 3
18-21140261-A-C c.815T>G p.Met272Arg Missense 6/25 - 1
18-21140265-T-C c.811A>G p.Ile271Val Missense 6/25 - 1
18-21140268-AC-A c.808del p.Val270Serfs*40 Frameshift 6/25 - 1
18-21140270-T-C c.806A>G p.Tyr269Cys Missense 6/25 - 1
18-21140279-T-C c.797A>G p.Asp266Gly Missense 6/25 - 1
18-21140294-G-A c.782C>T p.Thr261Met Missense 6/25 - 1
18-21140307-G-A c.769C>T p.Pro257Ser Missense 6/25 - 1
18-21140312-G-C c.764C>G p.Pro255Arg Missense 6/25 - 1
18-21140313-G-A c.763C>T p.Pro255Ser Missense 6/25 - 1
18-21140327-T-G c.749A>C p.Lys250Thr Missense 6/25 - 1
18-21140333-C-A c.743G>T p.Gly248Val Missense 6/25 - 3
18-21140336-AC-A c.740del p.Cys247Leufs*63 Frameshift 6/25 - 1
18-21140336-C-T c.740G>A p.Cys247Tyr Missense 6/25 - 1
18-21140352-C-G c.724G>C p.Asp242His Missense 6/25 - 1
18-21140352-C-T c.724G>A p.Asp242Asn Missense 6/25 - 1
18-21140364-A-G c.712T>C p.Cys238Arg Missense 6/25 - 1
18-21140367-G-A c.709C>T p.Pro237Ser Missense 6/25 - 31
18-21140381-T-C c.695A>G p.Asp232Gly Missense 6/25 - 1
18-21140383-CCAC-C c.692_694del p.Val231del InFrameDeletion 6/25 - 1
18-21140384-CACAGAC-C c.688_693del p.Ser230_Val231del InFrameDeletion 6/25 - 2
18-21140385-C-A c.691G>T p.Val231Leu Missense 6/25 - 1
18-21140396-C-G c.680G>C p.Cys227Ser Missense 6/25 - 1
18-21140397-A-T c.679T>A p.Cys227Ser Missense 6/25 - 1
18-21140399-C-T c.677G>A p.Gly226Asp Missense 6/25 - 1
18-21140411-T-C c.665A>G p.Asn222Ser Missense 6/25 - 8
18-21140411-T-G c.665A>C p.Asn222Thr Missense 6/25 - 1
18-21140432-T-C c.644A>G p.His215Arg Missense 6/25 - 68
18-21141324-C-A c.631G>T p.Asp211Tyr Missense 5/25 - 1
18-21141333-C-G c.622G>C p.Val208Leu Missense 5/25 - 1
18-21141343-G-A c.612C>T p.Thr204Thr Synonymous 5/25 - 1
18-21141343-G-C c.612C>G p.Thr204Thr Synonymous 5/25 - 1
18-21141343-G-T c.612C>A p.Thr204Thr Synonymous 5/25 - 1
18-21141351-G-C c.604C>G p.Pro202Ala Missense 5/25 - 9
18-21141372-T-TT c.584dup p.Asn195Lysfs*2 Frameshift 5/25 - 1
18-21141383-T-G c.572A>C p.Glu191Ala Missense 5/25 - 1
18-21141392-T-C c.563A>G p.Asn188Ser Missense 5/25 - 1
18-21141400-ATT-CAA c.553_555delinsTTG p.Asn185Leu Missense 5/25 - 1
18-21141401-T-C c.554A>G p.Asn185Ser Missense 5/25 - 1
18-21141402-T-C c.553A>G p.Asn185Asp Missense 5/25 - 1
18-21141407-G-A c.548C>T p.Ala183Val Missense 5/25 - 1
18-21141408-C-T c.547G>A p.Ala183Thr Missense 5/25 - 2
18-21141411-C-G c.544G>C p.Asp182His Missense 5/25 - 1
18-21141411-C-T c.544G>A p.Asp182Asn Missense 5/25 - 1
18-21141414-C-T c.541G>A p.Ala181Thr Missense 5/25 - 1
18-21141415-G-A c.540C>T p.Asp180Asp Synonymous 5/25 - 1
18-21141415-G-C c.540C>G p.Asp180Glu Missense 5/25 - 1
18-21141425-C-T c.530G>A p.Cys177Tyr Missense 5/25 - 3
18-21141428-A-C c.527T>G p.Leu176Arg Missense 5/25 - 2
18-21141428-A-T c.527T>A p.Leu176Gln Missense 5/25 - 1
18-21141430-GA-AA c.525delinsT p.Leu175Leu Missense 5/25 - 3
18-21141431-AG-GC c.523_524delinsGC p.Leu175Ala Missense 5/25 - 3
18-21141435-C-G c.520G>C p.Gly174Arg Missense 5/25 - 1
18-21141436-CAG-TTT c.517_519delinsAAA p.Leu173Lys Missense 5/25 - 1
18-21141449-T-A c.506A>T p.Asn169Ile Missense 5/25 - 1
18-21141459-G-A c.496C>T p.Pro166Ser Missense 5/25 - 1
18-21141461-G-A c.494C>T p.Ala165Val Missense 5/25 - 1
18-21141474-G-A c.481C>T p.Arg161Trp Missense 5/25 - 1
18-21141485-T-C c.470A>G p.Tyr157Cys Missense 5/25 - 1
18-21141488-A-G c.467T>C p.Met156Thr Missense 5/25 - 3
18-21141489-T-C c.466A>G p.Met156Val Missense 5/25 - 1
18-21141493-T-G c.464-2A>C - IntronicSNV - 4/24 1
18-21142340-T-A c.464-849A>T - IntronicSNV - 4/24 2
18-21142340-T-C c.464-849A>G - IntronicSNV - 4/24 2
18-21142992-A-T c.464-1501T>A - IntronicSNV - 4/24 1
18-21148800-TCT-T c.451_452del p.Ser151Phefs*18 Frameshift 4/25 - 1
18-21148801-T-C c.449A>G p.Gln150Arg Missense 4/25 - 1
18-21148805-C-T c.445G>A p.Gly149Arg Missense 4/25 - 1
18-21148808-C-G c.442G>C p.Val148Leu Missense 4/25 - 1
18-21148825-TTT-T c.425_426del p.Lys142Argfs*27 Frameshift 4/25 - 1
18-21148828-A-G c.422T>C p.Val141Ala Missense 4/25 - 2
18-21148834-G-GG c.416dup p.Asn140Lysfs*30 Frameshift 4/25 - 2
18-21148840-G-A c.410C>T p.Thr137Met Missense 4/25 - 6
18-21148841-T-C c.409A>G p.Thr137Ala Missense 4/25 - 1
18-21148861-A-G c.389T>C p.Val130Ala Missense 4/25 - 1
18-21148863-A-G c.387T>C p.Tyr129Tyr Synonymous 4/25 - 9
18-21148866-AA-A c.385del p.Tyr129Metfs*13 Frameshift 4/25 - 1
18-21148884-ATT-CAA c.364_366delinsTTG p.Asn122Leu Missense 4/25 - 1
18-21148899-TCT-T c.352_353del p.Gln119Valfs*8 Frameshift 4/25 - 2
18-21148903-C-T c.347G>A p.Arg116Gln Missense 4/25 - 1
18-21148904-G-A c.346C>T p.Arg116* Nonsense 4/25 - 1
18-21148913-A-G c.337T>C p.Cys113Arg Missense 4/25 - 1
18-21148924-C-G c.326G>C p.Cys109Ser Missense 4/25 - 1
18-21148925-A-T c.325T>A p.Cys109Ser Missense 4/25 - 1
18-21148932-GG-G c.319del p.Leu107Cysfs*5 Frameshift 4/25 - 2
18-21148944-A-C c.306T>G p.Tyr102* Nonsense 4/25 - 1
18-21148948-A-C c.302T>G p.Phe101Cys Missense 4/25 - 2
18-21148960-C-G c.290G>C p.Cys97Ser Missense 4/25 - 1
18-21148961-A-T c.289T>A p.Cys97Ser Missense 4/25 - 1
18-21149803-G-T c.288-841C>A - IntronicSNV - 3/24 1
18-21152038-CT-GC c.286_287delinsGC p.Arg96Ala Missense 3/25 - 1
18-21152050-T-C c.275A>G p.Gln92Arg Missense 3/25 - 7
18-21152050-TG-TC c.274delinsG p.Gln92Glu Missense 3/25 - 2
18-21152062-TG-GC c.262_263delinsGC p.Gln88Ala Missense 3/25 - 1
18-21152071-T-G c.254A>C p.Asp85Ala Missense 3/25 - 1
18-21152087-G-C c.238C>G p.Leu80Val Missense 3/25 - 1
18-21152089-T-A c.236A>T p.Gln79Leu Missense 3/25 - 2
18-21152089-TG-GC c.235_236delinsGC p.Gln79Ala Missense 3/25 - 3
18-21152092-C-T c.233G>A p.Arg78Gln Missense 3/25 - 1
18-21152104-C-T c.221G>A p.Cys74Tyr Missense 3/25 - 2
18-21152115-ATT-CAA c.208_210delinsTTG p.Asn70Leu Missense 3/25 - 3
18-21152116-T-C c.209A>G p.Asn70Ser Missense 3/25 - 1
18-21152125-A-T c.200T>A p.Phe67Tyr Missense 3/25 - 1
18-21152126-A-G c.199T>C p.Phe67Leu Missense 3/25 - 1
18-21152126-AGAATC-GGCACAG c.194_199delinsCTGTGCC p.Gly65Alafs*12 Frameshift 3/25 - 1
18-21152128-AA-GC c.196_197delinsGC p.Phe66Ala Missense 3/25 - 3
18-21152147-T-C c.181-3A>G - IntronicSNV - 2/24 1
18-21152148-T-G c.181-4A>C - IntronicSNV - 2/24 1
18-21153416-C-A c.180G>T p.Gln60His Missense 2/25 - 3
18-21153436-CCTTTGGC-GAGGCACAG c.153_160delinsCTGTGCCTC p.Leu51Phefs*7 Frameshift 2/25 - 1
18-21153437-C-CC c.160dup p.Asp54Glyfs*4 Frameshift 2/25 - 1
18-21153459-C-A c.137G>T p.Gly46Val Missense 2/25 - 1
18-21153462-G-A c.134C>T p.Ser45Phe Missense 2/25 - 1
18-21153469-C-T c.127G>A p.Glu43Lys Missense 2/25 - 1
18-21153478-TACCTCTTGT-T c.114_122del p.Lys38_Tyr40del InFrameDeletion 2/25 - 2
18-21153486-T-C c.110A>G p.Asp37Gly Missense 2/25 - 1
18-21153490-CC-C c.109del p.Asp37Thrfs*22 Frameshift 2/25 - 1
18-21153490-C-CCAGCGC c.106_107insCGCTGG p.Tyr35_Gly36insAlaLeu InFrameInsertion 2/25 - 1
18-21153505-CAC-C c.93_94del p.Cys31Trpfs*26 Frameshift 2/25 - 2
18-21153530-TGA-AAC c.64_66delinsGTT p.Ser22Val Missense 2/25 - 2
18-21153538-C-T c.58G>A p.Val20Met Missense 2/25 - 1
18-21154024-G-A c.58-486C>T - IntronicSNV - 1/24 1
18-21159630-A-G c.58-6092T>C - IntronicSNV - 1/24 1
18-21164994-G-C c.57+1257C>G - IntronicSNV - 1/24 1
18-21165080-C-A c.57+1171G>T - IntronicSNV - 1/24 2
18-21165080-C-T c.57+1171G>A - IntronicSNV - 1/24 2
18-21165163-C-T c.57+1088G>A - IntronicSNV - 1/24 1
18-21166261-C-T c.47G>A p.Cys16Tyr Missense 1/25 - 1
18-21166297-C-T c.11G>A p.Arg4His Missense 1/25 - 1
18-21166329-T-C c.-22A>G - 5-UTRSNV 1/25 - 1
18-21166329-T-G c.-22A>C - 5-UTRSNV 1/25 - 1