Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23532378_23536675del | CA913190465 | NPC1 | c.3243_3755-94del c.2321_2833-94del c.3294_3805+977del c.3294_3806-94del c.3243_3754+977del c.2829_3340+977del | ClinVar |
18 | g.23535542A>C | CA401791276 | NPC1 | c.3404T>G (p.Leu1135Trp) c.159T>G n.159T>G c.2482T>G c.81T>G c.3455T>G (p.Leu1152Trp) c.2990T>G (p.Leu997Trp) | |
18 | g.23535542A>G | CA401791277 | NPC1 | c.3404T>C (p.Leu1135Ser) c.159T>C n.159T>C c.2482T>C c.81T>C c.3455T>C (p.Leu1152Ser) c.2990T>C (p.Leu997Ser) | |
18 | g.23535542A>T | CA401791278 | NPC1 | c.3404T>A (p.Leu1135Ter) c.159T>A n.159T>A c.2482T>A c.81T>A c.3455T>A (p.Leu1152Ter) c.2990T>A (p.Leu997Ter) | |
18 | g.23535543A>C | CA401791279 | NPC1 | c.3403T>G (p.Leu1135Val) c.158T>G n.158T>G c.2481T>G c.80T>G c.3454T>G (p.Leu1152Val) c.2989T>G (p.Leu997Val) | |
18 | g.23535543A>G | CA503521684 | NPC1 | c.3403T>C (p.Leu1135=) c.158T>C n.158T>C c.2481T>C c.80T>C c.3454T>C (p.Leu1152=) c.2989T>C (p.Leu997=) | gnomAD v4 |
18 | g.23535543A>T | CA401791280 | NPC1 | c.3403T>A (p.Leu1135Met) c.158T>A n.158T>A c.2481T>A c.80T>A c.3454T>A (p.Leu1152Met) c.2989T>A (p.Leu997Met) | |
18 | g.23535544G>A | CA503521685 | NPC1 | c.3402C>T (p.Val1134=) c.157C>T n.157C>T c.2480C>T c.79C>T c.3453C>T (p.Val1151=) c.2988C>T (p.Val996=) | |
18 | g.23535544G>C | CA503521686 | NPC1 | c.3402C>G (p.Val1134=) c.157C>G n.157C>G c.2480C>G c.79C>G c.3453C>G (p.Val1151=) c.2988C>G (p.Val996=) | |
18 | g.23535544G= | CA2290163875 | NPC1 | c.3402C= (p.Val1134=) c.157C= n.157C= c.2480C= c.79C= c.3453C= (p.Val1151=) c.2988C= (p.Val996=) | |
18 | g.23535544G>T | CA503521687 | NPC1 | c.3402C>A (p.Val1134=) c.157C>A n.157C>A c.2480C>A c.79C>A c.3453C>A (p.Val1151=) c.2988C>A (p.Val996=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535545A>C | CA401791281 | NPC1 | c.3401T>G (p.Val1134Gly) c.156T>G n.156T>G c.2479T>G c.78T>G c.3452T>G (p.Val1151Gly) c.2987T>G (p.Val996Gly) | |
18 | g.23535545A>G | CA401791282 | NPC1 | c.3401T>C (p.Val1134Ala) c.156T>C n.156T>C c.2479T>C c.78T>C c.3452T>C (p.Val1151Ala) c.2987T>C (p.Val996Ala) | gnomAD v4 |
18 | g.23535545A>T | CA401791283 | NPC1 | c.3401T>A (p.Val1134Asp) c.156T>A n.156T>A c.2479T>A c.78T>A c.3452T>A (p.Val1151Asp) c.2987T>A (p.Val996Asp) | |
18 | g.23535546C>A | CA401791284 | NPC1 | c.3400G>T (p.Val1134Phe) c.155G>T n.155G>T c.2478G>T c.77G>T c.3451G>T (p.Val1151Phe) c.2986G>T (p.Val996Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535546C= | CA2290163876 | NPC1 | c.3400G= (p.Val1134=) c.155G= n.155G= c.2478G= c.77G= c.3451G= (p.Val1151=) c.2986G= (p.Val996=) | |
18 | g.23535546C>G | CA401791285 | NPC1 | c.3400G>C (p.Val1134Leu) c.155G>C n.155G>C c.2478G>C c.77G>C c.3451G>C (p.Val1151Leu) c.2986G>C (p.Val996Leu) | |
18 | g.23535546C>T | CA401791286 | NPC1 | c.3400G>A (p.Val1134Ile) c.155G>A n.155G>A c.2478G>A c.77G>A c.3451G>A (p.Val1151Ile) c.2986G>A (p.Val996Ile) | |
18 | g.23535547C>A | CA401791289 | NPC1 | c.3399G>T (p.Met1133Ile) c.154G>T n.154G>T c.2477G>T c.76G>T c.3450G>T (p.Met1150Ile) c.2985G>T (p.Met995Ile) | |
18 | g.23535547C>G | CA401791288 | NPC1 | c.3399G>C (p.Met1133Ile) c.154G>C n.154G>C c.2477G>C c.76G>C c.3450G>C (p.Met1150Ile) c.2985G>C (p.Met995Ile) | |
18 | g.23535547C>T | CA401791287 | NPC1 | c.3399G>A (p.Met1133Ile) c.154G>A n.154G>A c.2477G>A c.76G>A c.3450G>A (p.Met1150Ile) c.2985G>A (p.Met995Ile) | |
18 | g.23535548A>C | CA401791290 | NPC1 | c.3398T>G (p.Met1133Arg) c.153T>G n.153T>G c.2476T>G c.75T>G c.3449T>G (p.Met1150Arg) c.2984T>G (p.Met995Arg) | |
18 | g.23535548A>G | CA401791291 | NPC1 | c.3398T>C (p.Met1133Thr) c.153T>C n.153T>C c.2476T>C c.75T>C c.3449T>C (p.Met1150Thr) c.2984T>C (p.Met995Thr) | |
18 | g.23535548A>T | CA401791292 | NPC1 | c.3398T>A (p.Met1133Lys) c.153T>A n.153T>A c.2476T>A c.75T>A c.3449T>A (p.Met1150Lys) c.2984T>A (p.Met995Lys) | |
18 | g.23535549T>A | CA401791293 | NPC1 | c.3397A>T (p.Met1133Leu) c.152A>T n.152A>T c.2475A>T c.74A>T c.3448A>T (p.Met1150Leu) c.2983A>T (p.Met995Leu) | |
18 | g.23535549T>C | CA401791294 | NPC1 | c.3397A>G (p.Met1133Val) c.152A>G n.152A>G c.2475A>G c.74A>G c.3448A>G (p.Met1150Val) c.2983A>G (p.Met995Val) | dbSNP gnomAD v4 |
18 | g.23535549T>G | CA401791295 | NPC1 | c.3397A>C (p.Met1133Leu) c.152A>C n.152A>C c.2475A>C c.74A>C c.3448A>C (p.Met1150Leu) c.2983A>C (p.Met995Leu) | |
18 | g.23535549T= | CA2290163877 | NPC1 | c.3397A= (p.Met1133=) c.152A= n.152A= c.2475A= c.74A= c.3448A= (p.Met1150=) c.2983A= (p.Met995=) | |
18 | g.23535550G>A | CA8912784 | NPC1 | c.3396C>T (p.Ala1132=) c.151C>T n.151C>T c.2474C>T c.73C>T c.3447C>T (p.Ala1149=) c.2982C>T (p.Ala994=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535550G>C | CA503521689 | NPC1 | c.3396C>G (p.Ala1132=) c.151C>G n.151C>G c.2474C>G c.73C>G c.3447C>G (p.Ala1149=) c.2982C>G (p.Ala994=) | |
18 | g.23535550G= | CA2290163878 | NPC1 | c.3396C= (p.Ala1132=) c.151C= n.151C= c.2474C= c.73C= c.3447C= (p.Ala1149=) c.2982C= (p.Ala994=) | |
18 | g.23535550G>T | CA503521688 | NPC1 | c.3396C>A (p.Ala1132=) c.151C>A n.151C>A c.2474C>A c.73C>A c.3447C>A (p.Ala1149=) c.2982C>A (p.Ala994=) | |
18 | g.23535551G>A | CA401791296 | NPC1 | c.3395C>T (p.Ala1132Val) c.150C>T n.150C>T c.2473C>T c.72C>T c.3446C>T (p.Ala1149Val) c.2981C>T (p.Ala994Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535551G>C | CA401791297 | NPC1 | c.3395C>G (p.Ala1132Gly) c.150C>G n.150C>G c.2473C>G c.72C>G c.3446C>G (p.Ala1149Gly) c.2981C>G (p.Ala994Gly) | |
18 | g.23535551G= | CA2290163879 | NPC1 | c.3395C= (p.Ala1132=) c.150C= n.150C= c.2473C= c.72C= c.3446C= (p.Ala1149=) c.2981C= (p.Ala994=) | |
18 | g.23535551G>T | CA401791298 | NPC1 | c.3395C>A (p.Ala1132Asp) c.150C>A n.150C>A c.2473C>A c.72C>A c.3446C>A (p.Ala1149Asp) c.2981C>A (p.Ala994Asp) | |
18 | g.23535552C>A | CA401791299 | NPC1 | c.3394G>T (p.Ala1132Ser) c.149G>T n.149G>T c.2472G>T c.71G>T c.3445G>T (p.Ala1149Ser) c.2980G>T (p.Ala994Ser) | |
18 | g.23535552C= | CA2290163880 | NPC1 | c.3394G= (p.Ala1132=) c.149G= n.149G= c.2472G= c.71G= c.3445G= (p.Ala1149=) c.2980G= (p.Ala994=) | |
18 | g.23535552C>G | CA401791300 | NPC1 | c.3394G>C (p.Ala1132Pro) c.149G>C n.149G>C c.2472G>C c.71G>C c.3445G>C (p.Ala1149Pro) c.2980G>C (p.Ala994Pro) | |
18 | g.23535552C>T | CA297079175 | NPC1 | c.3394G>A (p.Ala1132Thr) c.149G>A n.149G>A c.2472G>A c.71G>A c.3445G>A (p.Ala1149Thr) c.2980G>A (p.Ala994Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535553G>A | CA8912785 | NPC1 | c.3393C>T (p.Ile1131=) c.148C>T n.148C>T c.2471C>T c.70C>T c.3444C>T (p.Ile1148=) c.2979C>T (p.Ile993=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535553G>C | CA401791301 | NPC1 | c.3393C>G (p.Ile1131Met) c.148C>G n.148C>G c.2471C>G c.70C>G c.3444C>G (p.Ile1148Met) c.2979C>G (p.Ile993Met) | gnomAD v4 |
18 | g.23535553G= | CA2290163881 | NPC1 | c.3393C= (p.Ile1131=) c.148C= n.148C= c.2471C= c.70C= c.3444C= (p.Ile1148=) c.2979C= (p.Ile993=) | |
18 | g.23535553G>T | CA503521690 | NPC1 | c.3393C>A (p.Ile1131=) c.148C>A n.148C>A c.2471C>A c.70C>A c.3444C>A (p.Ile1148=) c.2979C>A (p.Ile993=) | |
18 | g.23535554A>C | CA401791302 | NPC1 | c.3392T>G (p.Ile1131Ser) c.147T>G n.147T>G c.2470T>G c.69T>G c.3443T>G (p.Ile1148Ser) c.2978T>G (p.Ile993Ser) | |
18 | g.23535554A>G | CA401791303 | NPC1 | c.3392T>C (p.Ile1131Thr) c.147T>C n.147T>C c.2470T>C c.69T>C c.3443T>C (p.Ile1148Thr) c.2978T>C (p.Ile993Thr) | gnomAD v4 |
18 | g.23535554A>T | CA401791304 | NPC1 | c.3392T>A (p.Ile1131Asn) c.147T>A n.147T>A c.2470T>A c.69T>A c.3443T>A (p.Ile1148Asn) c.2978T>A (p.Ile993Asn) | |
18 | g.23535555T>A | CA401791305 | NPC1 | c.3391A>T (p.Ile1131Phe) c.146A>T n.146A>T c.2469A>T c.68A>T c.3442A>T (p.Ile1148Phe) c.2977A>T (p.Ile993Phe) | |
18 | g.23535555T>C | CA401791306 | NPC1 | c.3391A>G (p.Ile1131Val) c.146A>G n.146A>G c.2469A>G c.68A>G c.3442A>G (p.Ile1148Val) c.2977A>G (p.Ile993Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23535555T>G | CA401791307 | NPC1 | c.3391A>C (p.Ile1131Leu) c.146A>C n.146A>C c.2469A>C c.68A>C c.3442A>C (p.Ile1148Leu) c.2977A>C (p.Ile993Leu) | |
18 | g.23535555T= | CA2290163882 | NPC1 | c.3391A= (p.Ile1131=) c.146A= n.146A= c.2469A= c.68A= c.3442A= (p.Ile1148=) c.2977A= (p.Ile993=) | |
18 | g.23535556G>A | CA503521691 | NPC1 | c.3390C>T (p.Thr1130=) c.145C>T n.145C>T c.2468C>T c.67C>T c.3441C>T (p.Thr1147=) c.2976C>T (p.Thr992=) | gnomAD v4 |
18 | g.23535556G>C | CA503521692 | NPC1 | c.3390C>G (p.Thr1130=) c.145C>G n.145C>G c.2468C>G c.67C>G c.3441C>G (p.Thr1147=) c.2976C>G (p.Thr992=) | |
18 | g.23535556G>T | CA503521693 | NPC1 | c.3390C>A (p.Thr1130=) c.145C>A n.145C>A c.2468C>A c.67C>A c.3441C>A (p.Thr1147=) c.2976C>A (p.Thr992=) | |
18 | g.23535557G>A | CA401791308 | NPC1 | c.3389C>T (p.Thr1130Ile) c.144C>T n.144C>T c.2467C>T c.66C>T c.3440C>T (p.Thr1147Ile) c.2975C>T (p.Thr992Ile) | |
18 | g.23535557G>C | CA401791309 | NPC1 | c.3389C>G (p.Thr1130Ser) c.144C>G n.144C>G c.2467C>G c.66C>G c.3440C>G (p.Thr1147Ser) c.2975C>G (p.Thr992Ser) | |
18 | g.23535557G>T | CA401791310 | NPC1 | c.3389C>A (p.Thr1130Asn) c.144C>A n.144C>A c.2467C>A c.66C>A c.3440C>A (p.Thr1147Asn) c.2975C>A (p.Thr992Asn) | |
18 | g.23535558T>A | CA401791311 | NPC1 | c.3388A>T (p.Thr1130Ser) c.143A>T n.143A>T c.2466A>T c.65A>T c.3439A>T (p.Thr1147Ser) c.2974A>T (p.Thr992Ser) | |
18 | g.23535558T>C | CA401791312 | NPC1 | c.3388A>G (p.Thr1130Ala) c.143A>G n.143A>G c.2466A>G c.65A>G c.3439A>G (p.Thr1147Ala) c.2974A>G (p.Thr992Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535558T>G | CA401791313 | NPC1 | c.3388A>C (p.Thr1130Pro) c.143A>C n.143A>C c.2466A>C c.65A>C c.3439A>C (p.Thr1147Pro) c.2974A>C (p.Thr992Pro) | |
18 | g.23535558T= | CA2290163883 | NPC1 | c.3388A= (p.Thr1130=) c.143A= n.143A= c.2466A= c.65A= c.3439A= (p.Thr1147=) c.2974A= (p.Thr992=) | |
18 | g.23535559G>A | CA8912786 | NPC1 | c.3387C>T (p.Ala1129=) c.142C>T n.142C>T c.2465C>T c.64C>T c.3438C>T (p.Ala1146=) c.2973C>T (p.Ala991=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23535559G>C | CA503521694 | NPC1 | c.3387C>G (p.Ala1129=) c.142C>G n.142C>G c.2465C>G c.64C>G c.3438C>G (p.Ala1146=) c.2973C>G (p.Ala991=) | |
18 | g.23535559G= | CA2290163884 | NPC1 | c.3387C= (p.Ala1129=) c.142C= n.142C= c.2465C= c.64C= c.3438C= (p.Ala1146=) c.2973C= (p.Ala991=) | |
18 | g.23535559G>T | CA503521695 | NPC1 | c.3387C>A (p.Ala1129=) c.142C>A n.142C>A c.2465C>A c.64C>A c.3438C>A (p.Ala1146=) c.2973C>A (p.Ala991=) | |
18 | g.23535560G>A | CA401791315 | NPC1 | c.3386C>T (p.Ala1129Val) c.141C>T n.141C>T c.2464C>T c.63C>T c.3437C>T (p.Ala1146Val) c.2972C>T (p.Ala991Val) | |
18 | g.23535560G>C | CA401791316 | NPC1 | c.3386C>G (p.Ala1129Gly) c.141C>G n.141C>G c.2464C>G c.63C>G c.3437C>G (p.Ala1146Gly) c.2972C>G (p.Ala991Gly) | |
18 | g.23535560G>T | CA401791314 | NPC1 | c.3386C>A (p.Ala1129Asp) c.141C>A n.141C>A c.2464C>A c.63C>A c.3437C>A (p.Ala1146Asp) c.2972C>A (p.Ala991Asp) | |
18 | g.23535561C>A | CA401791318 | NPC1 | c.3385G>T (p.Ala1129Ser) c.140G>T n.140G>T c.2463G>T c.62G>T c.3436G>T (p.Ala1146Ser) c.2971G>T (p.Ala991Ser) | |
18 | g.23535561C>G | CA401791317 | NPC1 | c.3385G>C (p.Ala1129Pro) c.140G>C n.140G>C c.2463G>C c.62G>C c.3436G>C (p.Ala1146Pro) c.2971G>C (p.Ala991Pro) | |
18 | g.23535561C>T | CA401791319 | NPC1 | c.3385G>A (p.Ala1129Thr) c.140G>A n.140G>A c.2463G>A c.62G>A c.3436G>A (p.Ala1146Thr) c.2971G>A (p.Ala991Thr) | gnomAD v4 |
18 | g.23535562A>C | CA401791320 | NPC1 | c.3384T>G (p.Cys1128Trp) c.139T>G n.139T>G c.2462T>G c.61T>G c.3435T>G (p.Cys1145Trp) c.2970T>G (p.Cys990Trp) | |
18 | g.23535562A>G | CA503521696 | NPC1 | c.3384T>C (p.Cys1128=) c.139T>C n.139T>C c.2462T>C c.61T>C c.3435T>C (p.Cys1145=) c.2970T>C (p.Cys990=) | dbSNP |
18 | g.23535562A>T | CA401791321 | NPC1 | c.3384T>A (p.Cys1128Ter) c.139T>A n.139T>A c.2462T>A c.61T>A c.3435T>A (p.Cys1145Ter) c.2970T>A (p.Cys990Ter) | |
18 | g.23535563C>A | CA401791322 | NPC1 | c.3383G>T (p.Cys1128Phe) c.138G>T n.138G>T c.2461G>T c.60G>T c.3434G>T (p.Cys1145Phe) c.2969G>T (p.Cys990Phe) | |
18 | g.23535563C>G | CA401791324 | NPC1 | c.3383G>C (p.Cys1128Ser) c.138G>C n.138G>C c.2461G>C c.60G>C c.3434G>C (p.Cys1145Ser) c.2969G>C (p.Cys990Ser) | |
18 | g.23535563C>T | CA401791323 | NPC1 | c.3383G>A (p.Cys1128Tyr) c.138G>A n.138G>A c.2461G>A c.60G>A c.3434G>A (p.Cys1145Tyr) c.2969G>A (p.Cys990Tyr) | gnomAD v4 |
18 | g.23535564A>C | CA401791325 | NPC1 | c.3382T>G (p.Cys1128Gly) c.137T>G n.137T>G c.2460T>G c.59T>G c.3433T>G (p.Cys1145Gly) c.2968T>G (p.Cys990Gly) | |
18 | g.23535564A>G | CA401791326 | NPC1 | c.3382T>C (p.Cys1128Arg) c.137T>C n.137T>C c.2460T>C c.59T>C c.3433T>C (p.Cys1145Arg) c.2968T>C (p.Cys990Arg) | gnomAD v4 |
18 | g.23535564A>T | CA401791327 | NPC1 | c.3382T>A (p.Cys1128Ser) c.137T>A n.137T>A c.2460T>A c.59T>A c.3433T>A (p.Cys1145Ser) c.2968T>A (p.Cys990Ser) | |
18 | g.23535565C>A | CA401791328 | NPC1 | c.3381G>T (p.Met1127Ile) c.136G>T n.136G>T c.2459G>T c.58G>T c.3432G>T (p.Met1144Ile) c.2967G>T (p.Met989Ile) | |
18 | g.23535565C>G | CA401791329 | NPC1 | c.3381G>C (p.Met1127Ile) c.136G>C n.136G>C c.2459G>C c.58G>C c.3432G>C (p.Met1144Ile) c.2967G>C (p.Met989Ile) | |
18 | g.23535565C>T | CA401791330 | NPC1 | c.3381G>A (p.Met1127Ile) c.136G>A n.136G>A c.2459G>A c.58G>A c.3432G>A (p.Met1144Ile) c.2967G>A (p.Met989Ile) | ClinVar dbSNP gnomAD v4 |
18 | g.23535565_23535567delinsCAT | CA2290163885 | NPC1 | c.3379_3381delinsATG (p.Met1127=) c.134_136delinsATG n.134_136delinsATG c.2457_2459delinsATG c.56_58delinsATG c.3430_3432delinsATG (p.Met1144=) c.2965_2967delinsATG (p.Met989=) | |
18 | g.23535566A= | CA2290163886 | NPC1 | c.3380T= (p.Met1127=) c.135T= n.135T= c.2458T= c.57T= c.3431T= (p.Met1144=) c.2966T= (p.Met989=) | |
18 | g.23535566A>C | CA401791331 | NPC1 | c.3380T>G (p.Met1127Arg) c.135T>G n.135T>G c.2458T>G c.57T>G c.3431T>G (p.Met1144Arg) c.2966T>G (p.Met989Arg) | |
18 | g.23535566A>G | CA401791332 | NPC1 | c.3380T>C (p.Met1127Thr) c.135T>C n.135T>C c.2458T>C c.57T>C c.3431T>C (p.Met1144Thr) c.2966T>C (p.Met989Thr) | ClinVar dbSNP gnomAD v4 |
18 | g.23535566A>T | CA401791333 | NPC1 | c.3380T>A (p.Met1127Lys) c.135T>A n.135T>A c.2458T>A c.57T>A c.3431T>A (p.Met1144Lys) c.2966T>A (p.Met989Lys) | |
18 | g.23535566_23535567del | CA916083636 | NPC1 | c.3379_3380del (p.Met1127ValfsTer?) c.134_135del n.134_135del c.2457_2458del c.56_57del c.3430_3431del (p.Met1144ValfsTer?) c.2965_2966del (p.Met989ValfsTer?) | ClinVar dbSNP gnomAD v4 |
18 | g.23535567T>A | CA401791334 | NPC1 | c.3379A>T (p.Met1127Leu) c.134A>T n.134A>T c.2457A>T c.56A>T c.3430A>T (p.Met1144Leu) c.2965A>T (p.Met989Leu) | |
18 | g.23535567T>C | CA8912787 | NPC1 | c.3379A>G (p.Met1127Val) c.134A>G n.134A>G c.2457A>G c.56A>G c.3430A>G (p.Met1144Val) c.2965A>G (p.Met989Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23535567T>G | CA401791335 | NPC1 | c.3379A>C (p.Met1127Leu) c.134A>C n.134A>C c.2457A>C c.56A>C c.3430A>C (p.Met1144Leu) c.2965A>C (p.Met989Leu) | |
18 | g.23535567T= | CA2290163887 | NPC1 | c.3379A= (p.Met1127=) c.134A= n.134A= c.2457A= c.56A= c.3430A= (p.Met1144=) c.2965A= (p.Met989=) | |
18 | g.23535568G>A | CA8912788 | NPC1 | c.3378C>T (p.Ile1126=) c.133C>T n.133C>T c.2456C>T c.55C>T c.3429C>T (p.Ile1143=) c.2964C>T (p.Ile988=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535568G>C | CA401791336 | NPC1 | c.3378C>G (p.Ile1126Met) c.133C>G n.133C>G c.2456C>G c.55C>G c.3429C>G (p.Ile1143Met) c.2964C>G (p.Ile988Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23535568G= | CA2290163888 | NPC1 | c.3378C= (p.Ile1126=) c.133C= n.133C= c.2456C= c.55C= c.3429C= (p.Ile1143=) c.2964C= (p.Ile988=) | |
18 | g.23535568G>T | CA503521697 | NPC1 | c.3378C>A (p.Ile1126=) c.133C>A n.133C>A c.2456C>A c.55C>A c.3429C>A (p.Ile1143=) c.2964C>A (p.Ile988=) | |
18 | g.23535569A= | CA2290163889 | NPC1 | c.3377T= (p.Ile1126=) c.132T= n.132T= c.2455T= c.54T= c.3428T= (p.Ile1143=) c.2963T= (p.Ile988=) | |
18 | g.23535569A>C | CA401791337 | NPC1 | c.3377T>G (p.Ile1126Ser) c.132T>G n.132T>G c.2455T>G c.54T>G c.3428T>G (p.Ile1143Ser) c.2963T>G (p.Ile988Ser) | |
18 | g.23535569A>G | CA297079185 | NPC1 | c.3377T>C (p.Ile1126Thr) c.132T>C n.132T>C c.2455T>C c.54T>C c.3428T>C (p.Ile1143Thr) c.2963T>C (p.Ile988Thr) | dbSNP gnomAD v4 |
18 | g.23535569A>T | CA401791338 | NPC1 | c.3377T>A (p.Ile1126Asn) c.132T>A n.132T>A c.2455T>A c.54T>A c.3428T>A (p.Ile1143Asn) c.2963T>A (p.Ile988Asn) | COSMIC COSMIC |
18 | g.23535570T>A | CA401791339 | NPC1 | c.3376A>T (p.Ile1126Phe) c.131A>T n.131A>T c.2454A>T c.53A>T c.3427A>T (p.Ile1143Phe) c.2962A>T (p.Ile988Phe) | |
18 | g.23535570T>C | CA401791340 | NPC1 | c.3376A>G (p.Ile1126Val) c.131A>G n.131A>G c.2454A>G c.53A>G c.3427A>G (p.Ile1143Val) c.2962A>G (p.Ile988Val) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23535570T>G | CA401791341 | NPC1 | c.3376A>C (p.Ile1126Leu) c.131A>C n.131A>C c.2454A>C c.53A>C c.3427A>C (p.Ile1143Leu) c.2962A>C (p.Ile988Leu) | ClinVar |
18 | g.23535570T= | CA2290163890 | NPC1 | c.3376A= (p.Ile1126=) c.131A= n.131A= c.2454A= c.53A= c.3427A= (p.Ile1143=) c.2962A= (p.Ile988=) | |
18 | g.23535571G>A | CA8912789 | NPC1 | c.3375C>T (p.Val1125=) c.130C>T n.130C>T c.2453C>T c.52C>T c.3426C>T (p.Val1142=) c.2961C>T (p.Val987=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23535571G>C | CA503521699 | NPC1 | c.3375C>G (p.Val1125=) c.130C>G n.130C>G c.2453C>G c.52C>G c.3426C>G (p.Val1142=) c.2961C>G (p.Val987=) | |
18 | g.23535571G= | CA2290163891 | NPC1 | c.3375C= (p.Val1125=) c.130C= n.130C= c.2453C= c.52C= c.3426C= (p.Val1142=) c.2961C= (p.Val987=) | |
18 | g.23535571G>T | CA503521698 | NPC1 | c.3375C>A (p.Val1125=) c.130C>A n.130C>A c.2453C>A c.52C>A c.3426C>A (p.Val1142=) c.2961C>A (p.Val987=) | |
18 | g.23535572A>C | CA401791342 | NPC1 | c.3374T>G (p.Val1125Gly) c.129T>G n.129T>G c.2452T>G c.51T>G c.3425T>G (p.Val1142Gly) c.2960T>G (p.Val987Gly) | |
18 | g.23535572A>G | CA401791343 | NPC1 | c.3374T>C (p.Val1125Ala) c.129T>C n.129T>C c.2452T>C c.51T>C c.3425T>C (p.Val1142Ala) c.2960T>C (p.Val987Ala) | |
18 | g.23535572A>T | CA401791344 | NPC1 | c.3374T>A (p.Val1125Asp) c.129T>A n.129T>A c.2452T>A c.51T>A c.3425T>A (p.Val1142Asp) c.2960T>A (p.Val987Asp) | |
18 | g.23535573C>A | CA8912790 | NPC1 | c.3373G>T (p.Val1125Phe) c.128G>T n.128G>T c.2451G>T c.50G>T c.3424G>T (p.Val1142Phe) c.2959G>T (p.Val987Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.23535573C= | CA2290163892 | NPC1 | c.3373G= (p.Val1125=) c.128G= n.128G= c.2451G= c.50G= c.3424G= (p.Val1142=) c.2959G= (p.Val987=) | |
18 | g.23535573C>G | CA401791345 | NPC1 | c.3373G>C (p.Val1125Leu) c.128G>C n.128G>C c.2451G>C c.50G>C c.3424G>C (p.Val1142Leu) c.2959G>C (p.Val987Leu) | gnomAD v4 |
18 | g.23535573C>T | CA401791346 | NPC1 | c.3373G>A (p.Val1125Ile) c.128G>A n.128G>A c.2451G>A c.50G>A c.3424G>A (p.Val1142Ile) c.2959G>A (p.Val987Ile) | gnomAD v4 |
18 | g.23535574T>A | CA503521700 | NPC1 | c.3372A>T (p.Ala1124=) c.127A>T n.127A>T c.2450A>T c.49A>T c.3423A>T (p.Ala1141=) c.2958A>T (p.Ala986=) | dbSNP |
18 | g.23535574T>C | CA503521701 | NPC1 | c.3372A>G (p.Ala1124=) c.127A>G n.127A>G c.2450A>G c.49A>G c.3423A>G (p.Ala1141=) c.2958A>G (p.Ala986=) | |
18 | g.23535574T>G | CA503521702 | NPC1 | c.3372A>C (p.Ala1124=) c.127A>C n.127A>C c.2450A>C c.49A>C c.3423A>C (p.Ala1141=) c.2958A>C (p.Ala986=) | |
18 | g.23535575G>A | CA401791349 | NPC1 | c.3371C>T (p.Ala1124Val) c.126C>T n.126C>T c.2449C>T c.48C>T c.3422C>T (p.Ala1141Val) c.2957C>T (p.Ala986Val) | |
18 | g.23535575G>C | CA401791347 | NPC1 | c.3371C>G (p.Ala1124Gly) c.126C>G n.126C>G c.2449C>G c.48C>G c.3422C>G (p.Ala1141Gly) c.2957C>G (p.Ala986Gly) | |
18 | g.23535575G>T | CA401791348 | NPC1 | c.3371C>A (p.Ala1124Glu) c.126C>A n.126C>A c.2449C>A c.48C>A c.3422C>A (p.Ala1141Glu) c.2957C>A (p.Ala986Glu) | |
18 | g.23535576C>A | CA401791350 | NPC1 | c.3370G>T (p.Ala1124Ser) c.125G>T n.125G>T c.2448G>T c.47G>T c.3421G>T (p.Ala1141Ser) c.2956G>T (p.Ala986Ser) | |
18 | g.23535576C>G | CA401791351 | NPC1 | c.3370G>C (p.Ala1124Pro) c.125G>C n.125G>C c.2448G>C c.47G>C c.3421G>C (p.Ala1141Pro) c.2956G>C (p.Ala986Pro) | |
18 | g.23535576C>T | CA401791352 | NPC1 | c.3370G>A (p.Ala1124Thr) c.125G>A n.125G>A c.2448G>A c.47G>A c.3421G>A (p.Ala1141Thr) c.2956G>A (p.Ala986Thr) | gnomAD v4 |
18 | g.23535577A>C | CA503521703 | NPC1 | c.3369T>G (p.Ser1123=) c.124T>G n.124T>G c.2447T>G c.46T>G c.3420T>G (p.Ser1140=) c.2955T>G (p.Ser985=) | |
18 | g.23535577A>G | CA503521704 | NPC1 | c.3369T>C (p.Ser1123=) c.124T>C n.124T>C c.2447T>C c.46T>C c.3420T>C (p.Ser1140=) c.2955T>C (p.Ser985=) | |
18 | g.23535577A>T | CA503521705 | NPC1 | c.3369T>A (p.Ser1123=) c.124T>A n.124T>A c.2447T>A c.46T>A c.3420T>A (p.Ser1140=) c.2955T>A (p.Ser985=) | |
18 | g.23535578G>A | CA401791353 | NPC1 | c.3368C>T (p.Ser1123Phe) c.123C>T n.123C>T c.2446C>T c.45C>T c.3419C>T (p.Ser1140Phe) c.2954C>T (p.Ser985Phe) | |
18 | g.23535578G>C | CA401791354 | NPC1 | c.3368C>G (p.Ser1123Cys) c.123C>G n.123C>G c.2446C>G c.45C>G c.3419C>G (p.Ser1140Cys) c.2954C>G (p.Ser985Cys) | |
18 | g.23535578G>T | CA401791355 | NPC1 | c.3368C>A (p.Ser1123Tyr) c.123C>A n.123C>A c.2446C>A c.45C>A c.3419C>A (p.Ser1140Tyr) c.2954C>A (p.Ser985Tyr) | |
18 | g.23535579A>C | CA401791358 | NPC1 | c.3367T>G (p.Ser1123Ala) c.122T>G n.122T>G c.2445T>G c.44T>G c.3418T>G (p.Ser1140Ala) c.2953T>G (p.Ser985Ala) | |
18 | g.23535579A>G | CA401791357 | NPC1 | c.3367T>C (p.Ser1123Pro) c.122T>C n.122T>C c.2445T>C c.44T>C c.3418T>C (p.Ser1140Pro) c.2953T>C (p.Ser985Pro) | gnomAD v4 |
18 | g.23535579A>T | CA401791356 | NPC1 | c.3367T>A (p.Ser1123Thr) c.122T>A n.122T>A c.2445T>A c.44T>A c.3418T>A (p.Ser1140Thr) c.2953T>A (p.Ser985Thr) | |
18 | g.23535580C>A | CA401791359 | NPC1 | c.3366G>T (p.Trp1122Cys) c.121G>T n.121G>T c.2444G>T c.43G>T c.3417G>T (p.Trp1139Cys) c.2952G>T (p.Trp984Cys) | |
18 | g.23535580C= | CA2290163893 | NPC1 | c.3366G= (p.Trp1122=) c.121G= n.121G= c.2444G= c.43G= c.3417G= (p.Trp1139=) c.2952G= (p.Trp984=) | |
18 | g.23535580C>G | CA401791360 | NPC1 | c.3366G>C (p.Trp1122Cys) c.121G>C n.121G>C c.2444G>C c.43G>C c.3417G>C (p.Trp1139Cys) c.2952G>C (p.Trp984Cys) | |
18 | g.23535580C>T | CA401791361 | NPC1 | c.3366G>A (p.Trp1122Ter) c.121G>A n.121G>A c.2444G>A c.43G>A c.3417G>A (p.Trp1139Ter) c.2952G>A (p.Trp984Ter) | |
18 | g.23535580_23535581insA | CA777716018 | NPC1 | c.3365_3366insT (p.Trp1122CysfsTer?) c.120_121insT n.120_121insT c.2443_2444insT c.42_43insT c.3416_3417insT (p.Trp1139CysfsTer?) c.2951_2952insT (p.Trp984CysfsTer?) | dbSNP |
18 | g.23535581C>A | CA401791362 | NPC1 | c.3365G>T (p.Trp1122Leu) c.120G>T n.120G>T c.2443G>T c.42G>T c.3416G>T (p.Trp1139Leu) c.2951G>T (p.Trp984Leu) | |
18 | g.23535581C>G | CA401791363 | NPC1 | c.3365G>C (p.Trp1122Ser) c.120G>C n.120G>C c.2443G>C c.42G>C c.3416G>C (p.Trp1139Ser) c.2951G>C (p.Trp984Ser) | |
18 | g.23535581C>T | CA401791364 | NPC1 | c.3365G>A (p.Trp1122Ter) c.120G>A n.120G>A c.2443G>A c.42G>A c.3416G>A (p.Trp1139Ter) c.2951G>A (p.Trp984Ter) | |
18 | g.23535581_23535583del | CA2641278414 | NPC1 | c.3363_3365del (p.Trp1122del) c.118_120del n.118_120del c.2441_2443del c.40_42del c.3414_3416del (p.Trp1139del) c.2949_2951del (p.Trp984del) | gnomAD v4 |
18 | g.23535582A= | CA2290163894 | NPC1 | c.3364T= (p.Trp1122=) c.119T= n.119T= c.2442T= c.41T= c.3415T= (p.Trp1139=) c.2950T= (p.Trp984=) | |
18 | g.23535582A>C | CA401791365 | NPC1 | c.3364T>G (p.Trp1122Gly) c.119T>G n.119T>G c.2442T>G c.41T>G c.3415T>G (p.Trp1139Gly) c.2950T>G (p.Trp984Gly) | |
18 | g.23535582A>G | CA8912791 | NPC1 | c.3364T>C (p.Trp1122Arg) c.119T>C n.119T>C c.2442T>C c.41T>C c.3415T>C (p.Trp1139Arg) c.2950T>C (p.Trp984Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535582A>T | CA401791366 | NPC1 | c.3364T>A (p.Trp1122Arg) c.119T>A n.119T>A c.2442T>A c.41T>A c.3415T>A (p.Trp1139Arg) c.2950T>A (p.Trp984Arg) | |
18 | g.23535583G>A | CA503521706 | NPC1 | c.3363C>T (p.Leu1121=) c.118C>T n.118C>T c.2441C>T c.40C>T c.3414C>T (p.Leu1138=) c.2949C>T (p.Leu983=) | |
18 | g.23535583G>C | CA503521707 | NPC1 | c.3363C>G (p.Leu1121=) c.118C>G n.118C>G c.2441C>G c.40C>G c.3414C>G (p.Leu1138=) c.2949C>G (p.Leu983=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535583G= | CA2290163895 | NPC1 | c.3363C= (p.Leu1121=) c.118C= n.118C= c.2441C= c.40C= c.3414C= (p.Leu1138=) c.2949C= (p.Leu983=) | |
18 | g.23535583G>T | CA503521708 | NPC1 | c.3363C>A (p.Leu1121=) c.118C>A n.118C>A c.2441C>A c.40C>A c.3414C>A (p.Leu1138=) c.2949C>A (p.Leu983=) | |
18 | g.23535584A= | CA2290163896 | NPC1 | c.3362T= (p.Leu1121=) c.117T= n.117T= c.2440T= c.39T= c.3413T= (p.Leu1138=) c.2948T= (p.Leu983=) | |
18 | g.23535584A>C | CA401791367 | NPC1 | c.3362T>G (p.Leu1121Arg) c.117T>G n.117T>G c.2440T>G c.39T>G c.3413T>G (p.Leu1138Arg) c.2948T>G (p.Leu983Arg) | dbSNP gnomAD v4 |
18 | g.23535584A>G | CA401791368 | NPC1 | c.3362T>C (p.Leu1121Pro) c.117T>C n.117T>C c.2440T>C c.39T>C c.3413T>C (p.Leu1138Pro) c.2948T>C (p.Leu983Pro) | gnomAD v4 |
18 | g.23535584A>T | CA401791369 | NPC1 | c.3362T>A (p.Leu1121His) c.117T>A n.117T>A c.2440T>A c.39T>A c.3413T>A (p.Leu1138His) c.2948T>A (p.Leu983His) | |
18 | g.23535585G>A | CA401791370 | NPC1 | c.3361C>T (p.Leu1121Phe) c.116C>T n.116C>T c.2439C>T c.38C>T c.3412C>T (p.Leu1138Phe) c.2947C>T (p.Leu983Phe) | dbSNP |
18 | g.23535585G>C | CA401791371 | NPC1 | c.3361C>G (p.Leu1121Val) c.116C>G n.116C>G c.2439C>G c.38C>G c.3412C>G (p.Leu1138Val) c.2947C>G (p.Leu983Val) | |
18 | g.23535585G= | CA2290163897 | NPC1 | c.3361C= (p.Leu1121=) c.116C= n.116C= c.2439C= c.38C= c.3412C= (p.Leu1138=) c.2947C= (p.Leu983=) | |
18 | g.23535585G>T | CA8912792 | NPC1 | c.3361C>A (p.Leu1121Ile) c.116C>A n.116C>A c.2439C>A c.38C>A c.3412C>A (p.Leu1138Ile) c.2947C>A (p.Leu983Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23535586C>A | CA401791372 | NPC1 | c.3360G>T (p.Glu1120Asp) c.115G>T n.115G>T c.2438G>T c.37G>T c.3411G>T (p.Glu1137Asp) c.2946G>T (p.Glu982Asp) | |
18 | g.23535586C>G | CA401791373 | NPC1 | c.3360G>C (p.Glu1120Asp) c.115G>C n.115G>C c.2438G>C c.37G>C c.3411G>C (p.Glu1137Asp) c.2946G>C (p.Glu982Asp) | |
18 | g.23535586C>T | CA503521709 | NPC1 | c.3360G>A (p.Glu1120=) c.115G>A n.115G>A c.2438G>A c.37G>A c.3411G>A (p.Glu1137=) c.2946G>A (p.Glu982=) | |
18 | g.23535586_23535587insGT | CA2580095542 | NPC1 | c.3359_3360insAC (p.Leu1121ArgfsTer30) c.114_115insAC n.114_115insAC c.2437_2438insAC c.36_37insAC c.3410_3411insAC (p.Leu1138ArgfsTer30) c.2945_2946insAC (p.Leu983ArgfsTer30) | ClinVar |
18 | g.23535587T>A | CA401791374 | NPC1 | c.3359A>T (p.Glu1120Val) c.114A>T n.114A>T c.2437A>T c.36A>T c.3410A>T (p.Glu1137Val) c.2945A>T (p.Glu982Val) | |
18 | g.23535587T>C | CA401791375 | NPC1 | c.3359A>G (p.Glu1120Gly) c.114A>G n.114A>G c.2437A>G c.36A>G c.3410A>G (p.Glu1137Gly) c.2945A>G (p.Glu982Gly) | |
18 | g.23535587T>G | CA401791376 | NPC1 | c.3359A>C (p.Glu1120Ala) c.114A>C n.114A>C c.2437A>C c.36A>C c.3410A>C (p.Glu1137Ala) c.2945A>C (p.Glu982Ala) | |
18 | g.23535588C>A | CA401791379 | NPC1 | c.3358G>T (p.Glu1120Ter) c.113G>T n.113G>T c.2436G>T c.35G>T c.3409G>T (p.Glu1137Ter) c.2944G>T (p.Glu982Ter) | |
18 | g.23535588C>G | CA401791377 | NPC1 | c.3358G>C (p.Glu1120Gln) c.113G>C n.113G>C c.2436G>C c.35G>C c.3409G>C (p.Glu1137Gln) c.2944G>C (p.Glu982Gln) | |
18 | g.23535588C>T | CA401791378 | NPC1 | c.3358G>A (p.Glu1120Lys) c.113G>A n.113G>A c.2436G>A c.35G>A c.3409G>A (p.Glu1137Lys) c.2944G>A (p.Glu982Lys) | |
18 | g.23535589A>C | CA401791380 | NPC1 | c.3357T>G (p.Cys1119Trp) c.112T>G n.112T>G c.2435T>G c.34T>G c.3408T>G (p.Cys1136Trp) c.2943T>G (p.Cys981Trp) | gnomAD v4 |
18 | g.23535589A>G | CA503521710 | NPC1 | c.3357T>C (p.Cys1119=) c.112T>C n.112T>C c.2435T>C c.34T>C c.3408T>C (p.Cys1136=) c.2943T>C (p.Cys981=) | |
18 | g.23535589A>T | CA401791381 | NPC1 | c.3357T>A (p.Cys1119Ter) c.112T>A n.112T>A c.2435T>A c.34T>A c.3408T>A (p.Cys1136Ter) c.2943T>A (p.Cys981Ter) | |
18 | g.23535590C>A | CA401791382 | NPC1 | c.3356G>T (p.Cys1119Phe) c.111G>T n.111G>T c.2434G>T c.33G>T c.3407G>T (p.Cys1136Phe) c.2942G>T (p.Cys981Phe) | |
18 | g.23535590C= | CA2290163898 | NPC1 | c.3356G= (p.Cys1119=) c.111G= n.111G= c.2434G= c.33G= c.3407G= (p.Cys1136=) c.2942G= (p.Cys981=) | |
18 | g.23535590C>G | CA401791383 | NPC1 | c.3356G>C (p.Cys1119Ser) c.111G>C n.111G>C c.2434G>C c.33G>C c.3407G>C (p.Cys1136Ser) c.2942G>C (p.Cys981Ser) | |
18 | g.23535590C>T | CA401791384 | NPC1 | c.3356G>A (p.Cys1119Tyr) c.111G>A n.111G>A c.2434G>A c.33G>A c.3407G>A (p.Cys1136Tyr) c.2942G>A (p.Cys981Tyr) | ClinVar dbSNP gnomAD v4 |
18 | g.23535591A= | CA2290163899 | NPC1 | c.3355T= (p.Cys1119=) c.110T= n.110T= c.2433T= c.32T= c.3406T= (p.Cys1136=) c.2941T= (p.Cys981=) | |
18 | g.23535591A>C | CA401791385 | NPC1 | c.3355T>G (p.Cys1119Gly) c.110T>G n.110T>G c.2433T>G c.32T>G c.3406T>G (p.Cys1136Gly) c.2941T>G (p.Cys981Gly) | gnomAD v4 |
18 | g.23535591A>G | CA401791386 | NPC1 | c.3355T>C (p.Cys1119Arg) c.110T>C n.110T>C c.2433T>C c.32T>C c.3406T>C (p.Cys1136Arg) c.2941T>C (p.Cys981Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535591A>T | CA401791387 | NPC1 | c.3355T>A (p.Cys1119Ser) c.110T>A n.110T>A c.2433T>A c.32T>A c.3406T>A (p.Cys1136Ser) c.2941T>A (p.Cys981Ser) | |
18 | g.23535592G>A | CA503521712 | NPC1 | c.3354C>T (p.Gly1118=) c.109C>T n.109C>T c.2432C>T c.31C>T c.3405C>T (p.Gly1135=) c.2940C>T (p.Gly980=) | ClinVar |
18 | g.23535592G>C | CA503521713 | NPC1 | c.3354C>G (p.Gly1118=) c.109C>G n.109C>G c.2432C>G c.31C>G c.3405C>G (p.Gly1135=) c.2940C>G (p.Gly980=) | |
18 | g.23535592G>T | CA503521711 | NPC1 | c.3354C>A (p.Gly1118=) c.109C>A n.109C>A c.2432C>A c.31C>A c.3405C>A (p.Gly1135=) c.2940C>A (p.Gly980=) | |
18 | g.23535592_23535593delinsGC | CA2290163900 | NPC1 | c.3353_3354delinsGC (p.Gly1118=) c.108_109delinsGC n.108_109delinsGC c.2431_2432delinsGC c.30_31delinsGC c.3404_3405delinsGC (p.Gly1135=) c.2939_2940delinsGC (p.Gly980=) | |
18 | g.23535593C>A | CA401791388 | NPC1 | c.3353G>T (p.Gly1118Val) c.108G>T n.108G>T c.2431G>T c.30G>T c.3404G>T (p.Gly1135Val) c.2939G>T (p.Gly980Val) | |
18 | g.23535593C= | CA2290163902 | NPC1 | c.3353G= (p.Gly1118=) c.108G= n.108G= c.2431G= c.30G= c.3404G= (p.Gly1135=) c.2939G= (p.Gly980=) | |
18 | g.23535593C>G | CA401791389 | NPC1 | c.3353G>C (p.Gly1118Ala) c.108G>C n.108G>C c.2431G>C c.30G>C c.3404G>C (p.Gly1135Ala) c.2939G>C (p.Gly980Ala) | |
18 | g.23535593C>T | CA401791390 | NPC1 | c.3353G>A (p.Gly1118Asp) c.108G>A n.108G>A c.2431G>A c.30G>A c.3404G>A (p.Gly1135Asp) c.2939G>A (p.Gly980Asp) | dbSNP |
18 | g.23535595del | CA2290163901 | NPC1 | c.3353del (p.Gly1118AlafsTer?) c.108del n.108del c.2431del c.30del c.3404del (p.Gly1135AlafsTer?) c.2939del (p.Gly980AlafsTer?) | dbSNP |
18 | g.23535594C>A | CA401791391 | NPC1 | c.3352G>T (p.Gly1118Cys) c.107G>T n.107G>T c.2430G>T c.29G>T c.3403G>T (p.Gly1135Cys) c.2938G>T (p.Gly980Cys) | |
18 | g.23535594C= | CA2290163903 | NPC1 | c.3352G= (p.Gly1118=) c.107G= n.107G= c.2430G= c.29G= c.3403G= (p.Gly1135=) c.2938G= (p.Gly980=) | |
18 | g.23535594C>G | CA401791392 | NPC1 | c.3352G>C (p.Gly1118Arg) c.107G>C n.107G>C c.2430G>C c.29G>C c.3403G>C (p.Gly1135Arg) c.2938G>C (p.Gly980Arg) | |
18 | g.23535594C>T | CA401791393 | NPC1 | c.3352G>A (p.Gly1118Ser) c.107G>A n.107G>A c.2430G>A c.29G>A c.3403G>A (p.Gly1135Ser) c.2938G>A (p.Gly980Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.23535595C>A | CA503521716 | NPC1 | c.3351G>T (p.Leu1117=) c.106G>T n.106G>T c.2429G>T c.28G>T c.3402G>T (p.Leu1134=) c.2937G>T (p.Leu979=) | |
18 | g.23535595C>G | CA503521715 | NPC1 | c.3351G>C (p.Leu1117=) c.106G>C n.106G>C c.2429G>C c.28G>C c.3402G>C (p.Leu1134=) c.2937G>C (p.Leu979=) | |
18 | g.23535595C>T | CA503521714 | NPC1 | c.3351G>A (p.Leu1117=) c.106G>A n.106G>A c.2429G>A c.28G>A c.3402G>A (p.Leu1134=) c.2937G>A (p.Leu979=) | |
18 | g.23535596A= | CA2290163904 | NPC1 | c.3350T= (p.Leu1117=) c.105T= n.105T= c.2428T= c.27T= c.3401T= (p.Leu1134=) c.2936T= (p.Leu979=) | |
18 | g.23535596A>C | CA401791396 | NPC1 | c.3350T>G (p.Leu1117Arg) c.105T>G n.105T>G c.2428T>G c.27T>G c.3401T>G (p.Leu1134Arg) c.2936T>G (p.Leu979Arg) | |
18 | g.23535596A>G | CA401791394 | NPC1 | c.3350T>C (p.Leu1117Pro) c.105T>C n.105T>C c.2428T>C c.27T>C c.3401T>C (p.Leu1134Pro) c.2936T>C (p.Leu979Pro) | |
18 | g.23535596A>T | CA401791395 | NPC1 | c.3350T>A (p.Leu1117Gln) c.105T>A n.105T>A c.2428T>A c.27T>A c.3401T>A (p.Leu1134Gln) c.2936T>A (p.Leu979Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23535597G>A | CA503521717 | NPC1 | c.3349C>T (p.Leu1117=) c.104C>T n.104C>T c.2427C>T c.26C>T c.3400C>T (p.Leu1134=) c.2935C>T (p.Leu979=) | |
18 | g.23535597G>C | CA401791397 | NPC1 | c.3349C>G (p.Leu1117Val) c.104C>G n.104C>G c.2427C>G c.26C>G c.3400C>G (p.Leu1134Val) c.2935C>G (p.Leu979Val) | |
18 | g.23535597G>T | CA401791398 | NPC1 | c.3349C>A (p.Leu1117Met) c.104C>A n.104C>A c.2427C>A c.26C>A c.3400C>A (p.Leu1134Met) c.2935C>A (p.Leu979Met) | |
18 | g.23535598dup | CA2573054631 | NPC1 | c.3349dup (p.Leu1117ProfsTer4) c.104dup n.104dup c.2427dup c.26dup c.3400dup (p.Leu1134ProfsTer4) c.2935dup (p.Leu979ProfsTer4) | ClinVar dbSNP |
18 | g.23535598G>A | CA503521720 | NPC1 | c.3348C>T (p.Leu1116=) c.103C>T n.103C>T c.2426C>T c.25C>T c.3399C>T (p.Leu1133=) c.2934C>T (p.Leu978=) | COSMIC |
18 | g.23535598G>C | CA503521718 | NPC1 | c.3348C>G (p.Leu1116=) c.103C>G n.103C>G c.2426C>G c.25C>G c.3399C>G (p.Leu1133=) c.2934C>G (p.Leu978=) | |
18 | g.23535598G>T | CA503521719 | NPC1 | c.3348C>A (p.Leu1116=) c.103C>A n.103C>A c.2426C>A c.25C>A c.3399C>A (p.Leu1133=) c.2934C>A (p.Leu978=) | |
18 | g.23535599_23535600del | CA2695227423 | NPC1 | c.3347_3348del (p.Leu1116ProfsTer4) c.102_103del n.102_103del c.2425_2426del c.24_25del c.3398_3399del (p.Leu1133ProfsTer4) c.2933_2934del (p.Leu978ProfsTer4) | |
18 | g.23535599del | CA2580095543 | NPC1 | c.3347del (p.Leu1116ProfsTer?) c.102del n.102del c.2425del c.24del c.3398del (p.Leu1133ProfsTer?) c.2933del (p.Leu978ProfsTer?) | ClinVar |
18 | g.23535599A>C | CA401791399 | NPC1 | c.3347T>G (p.Leu1116Arg) c.102T>G n.102T>G c.2425T>G c.24T>G c.3398T>G (p.Leu1133Arg) c.2933T>G (p.Leu978Arg) | |
18 | g.23535599A>G | CA401791400 | NPC1 | c.3347T>C (p.Leu1116Pro) c.102T>C n.102T>C c.2425T>C c.24T>C c.3398T>C (p.Leu1133Pro) c.2933T>C (p.Leu978Pro) | |
18 | g.23535599A>T | CA401791401 | NPC1 | c.3347T>A (p.Leu1116His) c.102T>A n.102T>A c.2425T>A c.24T>A c.3398T>A (p.Leu1133His) c.2933T>A (p.Leu978His) | |
18 | g.23535600G>A | CA401791402 | NPC1 | c.3346C>T (p.Leu1116Phe) c.101C>T n.101C>T c.2424C>T c.23C>T c.3397C>T (p.Leu1133Phe) c.2932C>T (p.Leu978Phe) | |
18 | g.23535600G>C | CA401791403 | NPC1 | c.3346C>G (p.Leu1116Val) c.101C>G n.101C>G c.2424C>G c.23C>G c.3397C>G (p.Leu1133Val) c.2932C>G (p.Leu978Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535600G= | CA2290163905 | NPC1 | c.3346C= (p.Leu1116=) c.101C= n.101C= c.2424C= c.23C= c.3397C= (p.Leu1133=) c.2932C= (p.Leu978=) | |
18 | g.23535600G>T | CA401791404 | NPC1 | c.3346C>A (p.Leu1116Ile) c.101C>A n.101C>A c.2424C>A c.23C>A c.3397C>A (p.Leu1133Ile) c.2932C>A (p.Leu978Ile) | |
18 | g.23535601G>A | CA503521721 | NPC1 | c.3345C>T (p.Val1115=) c.100C>T n.100C>T c.2423C>T c.22C>T c.3396C>T (p.Val1132=) c.2931C>T (p.Val977=) | dbSNP gnomAD v4 |
18 | g.23535601G>C | CA503521722 | NPC1 | c.3345C>G (p.Val1115=) c.100C>G n.100C>G c.2423C>G c.22C>G c.3396C>G (p.Val1132=) c.2931C>G (p.Val977=) | |
18 | g.23535601G= | CA2290163906 | NPC1 | c.3345C= (p.Val1115=) c.100C= n.100C= c.2423C= c.22C= c.3396C= (p.Val1132=) c.2931C= (p.Val977=) | |
18 | g.23535601G>T | CA503521723 | NPC1 | c.3345C>A (p.Val1115=) c.100C>A n.100C>A c.2423C>A c.22C>A c.3396C>A (p.Val1132=) c.2931C>A (p.Val977=) | |
18 | g.23535602A= | CA2290163907 | NPC1 | c.3344T= (p.Val1115=) c.99T= n.99T= c.2422T= c.21T= c.3395T= (p.Val1132=) c.2930T= (p.Val977=) | |
18 | g.23535602A>C | CA401791405 | NPC1 | c.3344T>G (p.Val1115Gly) c.99T>G n.99T>G c.2422T>G c.21T>G c.3395T>G (p.Val1132Gly) c.2930T>G (p.Val977Gly) | |
18 | g.23535602A>G | CA297079211 | NPC1 | c.3344T>C (p.Val1115Ala) c.99T>C n.99T>C c.2422T>C c.21T>C c.3395T>C (p.Val1132Ala) c.2930T>C (p.Val977Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535602A>T | CA401791406 | NPC1 | c.3344T>A (p.Val1115Asp) c.99T>A n.99T>A c.2422T>A c.21T>A c.3395T>A (p.Val1132Asp) c.2930T>A (p.Val977Asp) | |
18 | g.23535603C>A | CA145964 | NPC1 | c.3343G>T (p.Val1115Phe) c.98G>T n.98G>T c.2421G>T c.20G>T c.3394G>T (p.Val1132Phe) c.2929G>T (p.Val977Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535603C= | CA2290163908 | NPC1 | c.3343G= (p.Val1115=) c.98G= n.98G= c.2421G= c.20G= c.3394G= (p.Val1132=) c.2929G= (p.Val977=) | |
18 | g.23535603C>G | CA401791407 | NPC1 | c.3343G>C (p.Val1115Leu) c.98G>C n.98G>C c.2421G>C c.20G>C c.3394G>C (p.Val1132Leu) c.2929G>C (p.Val977Leu) | |
18 | g.23535603C>T | CA8912793 | NPC1 | c.3343G>A (p.Val1115Ile) c.98G>A n.98G>A c.2421G>A c.20G>A c.3394G>A (p.Val1132Ile) c.2929G>A (p.Val977Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535604C>A | CA401791409 | NPC1 | c.3342G>T (p.Met1114Ile) c.97G>T n.97G>T c.2420G>T c.19G>T c.3393G>T (p.Met1131Ile) c.2928G>T (p.Met976Ile) | |
18 | g.23535604C= | CA2290163909 | NPC1 | c.3342G= (p.Met1114=) c.97G= n.97G= c.2420G= c.19G= c.3393G= (p.Met1131=) c.2928G= (p.Met976=) | |
18 | g.23535604C>G | CA401791408 | NPC1 | c.3342G>C (p.Met1114Ile) c.97G>C n.97G>C c.2420G>C c.19G>C c.3393G>C (p.Met1131Ile) c.2928G>C (p.Met976Ile) | |
18 | g.23535604C>T | CA8912794 | NPC1 | c.3342G>A (p.Met1114Ile) c.97G>A n.97G>A c.2420G>A c.19G>A c.3393G>A (p.Met1131Ile) c.2928G>A (p.Met976Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535605A>C | CA401791410 | NPC1 | c.3341T>G (p.Met1114Arg) c.96T>G n.96T>G c.2419T>G c.18T>G c.3392T>G (p.Met1131Arg) c.2927T>G (p.Met976Arg) | |
18 | g.23535605A>G | CA401791411 | NPC1 | c.3341T>C (p.Met1114Thr) c.96T>C n.96T>C c.2419T>C c.18T>C c.3392T>C (p.Met1131Thr) c.2927T>C (p.Met976Thr) | gnomAD v4 |
18 | g.23535605A>T | CA401791412 | NPC1 | c.3341T>A (p.Met1114Lys) c.96T>A n.96T>A c.2419T>A c.18T>A c.3392T>A (p.Met1131Lys) c.2927T>A (p.Met976Lys) | |
18 | g.23535606T>A | CA401791415 | NPC1 | c.3340A>T (p.Met1114Leu) c.95A>T n.95A>T c.2418A>T c.17A>T c.3391A>T (p.Met1131Leu) c.2926A>T (p.Met976Leu) | |
18 | g.23535606T>C | CA401791414 | NPC1 | c.3340A>G (p.Met1114Val) c.95A>G n.95A>G c.2418A>G c.17A>G c.3391A>G (p.Met1131Val) c.2926A>G (p.Met976Val) | ClinVar dbSNP gnomAD v4 |
18 | g.23535606T>G | CA401791413 | NPC1 | c.3340A>C (p.Met1114Leu) c.95A>C n.95A>C c.2418A>C c.17A>C c.3391A>C (p.Met1131Leu) c.2926A>C (p.Met976Leu) | |
18 | g.23535606T= | CA2290163910 | NPC1 | c.3340A= (p.Met1114=) c.95A= n.95A= c.2418A= c.17A= c.3391A= (p.Met1131=) c.2926A= (p.Met976=) | |
18 | g.23535607G>A | CA503521724 | NPC1 | c.3339C>T (p.Thr1113=) c.94C>T n.94C>T c.2417C>T c.16C>T c.3390C>T (p.Thr1130=) c.2925C>T (p.Thr975=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535607G>C | CA503521725 | NPC1 | c.3339C>G (p.Thr1113=) c.94C>G n.94C>G c.2417C>G c.16C>G c.3390C>G (p.Thr1130=) c.2925C>G (p.Thr975=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23535607G= | CA2290163911 | NPC1 | c.3339C= (p.Thr1113=) c.94C= n.94C= c.2417C= c.16C= c.3390C= (p.Thr1130=) c.2925C= (p.Thr975=) | |
18 | g.23535607G>T | CA503521726 | NPC1 | c.3339C>A (p.Thr1113=) c.94C>A n.94C>A c.2417C>A c.16C>A c.3390C>A (p.Thr1130=) c.2925C>A (p.Thr975=) | |
18 | g.23535608G>A | CA401791416 | NPC1 | c.3338C>T (p.Thr1113Ile) c.93C>T n.93C>T c.2416C>T c.15C>T c.3389C>T (p.Thr1130Ile) c.2924C>T (p.Thr975Ile) | dbSNP |
18 | g.23535608G>C | CA401791417 | NPC1 | c.3338C>G (p.Thr1113Ser) c.93C>G n.93C>G c.2416C>G c.15C>G c.3389C>G (p.Thr1130Ser) c.2924C>G (p.Thr975Ser) | |
18 | g.23535608G= | CA2290163912 | NPC1 | c.3338C= (p.Thr1113=) c.93C= n.93C= c.2416C= c.15C= c.3389C= (p.Thr1130=) c.2924C= (p.Thr975=) | |
18 | g.23535608G>T | CA401791418 | NPC1 | c.3338C>A (p.Thr1113Asn) c.93C>A n.93C>A c.2416C>A c.15C>A c.3389C>A (p.Thr1130Asn) c.2924C>A (p.Thr975Asn) | |
18 | g.23535609T>A | CA401791419 | NPC1 | c.3337A>T (p.Thr1113Ser) c.92A>T n.92A>T c.2415A>T c.14A>T c.3388A>T (p.Thr1130Ser) c.2923A>T (p.Thr975Ser) | |
18 | g.23535609T>C | CA401791420 | NPC1 | c.3337A>G (p.Thr1113Ala) c.92A>G n.92A>G c.2415A>G c.14A>G c.3388A>G (p.Thr1130Ala) c.2923A>G (p.Thr975Ala) | |
18 | g.23535609T>G | CA401791421 | NPC1 | c.3337A>C (p.Thr1113Pro) c.92A>C n.92A>C c.2415A>C c.14A>C c.3388A>C (p.Thr1130Pro) c.2923A>C (p.Thr975Pro) | |
18 | g.23535610C>A | CA503521727 | NPC1 | c.3336G>T (p.Val1112=) c.91G>T n.91G>T c.2414G>T c.13G>T c.3387G>T (p.Val1129=) c.2922G>T (p.Val974=) | |
18 | g.23535610C>G | CA503521728 | NPC1 | c.3336G>C (p.Val1112=) c.91G>C n.91G>C c.2414G>C c.13G>C c.3387G>C (p.Val1129=) c.2922G>C (p.Val974=) | |
18 | g.23535610C>T | CA503521729 | NPC1 | c.3336G>A (p.Val1112=) c.91G>A n.91G>A c.2414G>A c.13G>A c.3387G>A (p.Val1129=) c.2922G>A (p.Val974=) | ClinVar dbSNP |
18 | g.23535611A>C | CA401791422 | NPC1 | c.3335T>G (p.Val1112Gly) c.90T>G n.90T>G c.2413T>G c.12T>G c.3386T>G (p.Val1129Gly) c.2921T>G (p.Val974Gly) | |
18 | g.23535611A>G | CA401791424 | NPC1 | c.3335T>C (p.Val1112Ala) c.90T>C n.90T>C c.2413T>C c.12T>C c.3386T>C (p.Val1129Ala) c.2921T>C (p.Val974Ala) | |
18 | g.23535611A>T | CA401791423 | NPC1 | c.3335T>A (p.Val1112Glu) c.90T>A n.90T>A c.2413T>A c.12T>A c.3386T>A (p.Val1129Glu) c.2921T>A (p.Val974Glu) | |
18 | g.23535612C>A | CA401791425 | NPC1 | c.3334G>T (p.Val1112Leu) c.89G>T n.89G>T c.2412G>T c.11G>T c.3385G>T (p.Val1129Leu) c.2920G>T (p.Val974Leu) | gnomAD v4 |
18 | g.23535612C>G | CA401791426 | NPC1 | c.3334G>C (p.Val1112Leu) c.89G>C n.89G>C c.2412G>C c.11G>C c.3385G>C (p.Val1129Leu) c.2920G>C (p.Val974Leu) | |
18 | g.23535612C>T | CA401791427 | NPC1 | c.3334G>A (p.Val1112Met) c.89G>A n.89G>A c.2412G>A c.11G>A c.3385G>A (p.Val1129Met) c.2920G>A (p.Val974Met) | |
18 | g.23535613C>A | CA503521731 | NPC1 | c.3333G>T (p.Leu1111=) c.88G>T n.88G>T c.2411G>T c.10G>T c.3384G>T (p.Leu1128=) c.2919G>T (p.Leu973=) | |
18 | g.23535613C>G | CA503521732 | NPC1 | c.3333G>C (p.Leu1111=) c.88G>C n.88G>C c.2411G>C c.10G>C c.3384G>C (p.Leu1128=) c.2919G>C (p.Leu973=) | |
18 | g.23535613C>T | CA503521730 | NPC1 | c.3333G>A (p.Leu1111=) c.88G>A n.88G>A c.2411G>A c.10G>A c.3384G>A (p.Leu1128=) c.2919G>A (p.Leu973=) | gnomAD v4 |
18 | g.23535614A>C | CA401791428 | NPC1 | c.3332T>G (p.Leu1111Arg) c.87T>G n.87T>G c.2410T>G c.9T>G c.3383T>G (p.Leu1128Arg) c.2918T>G (p.Leu973Arg) | |
18 | g.23535614A>G | CA401791429 | NPC1 | c.3332T>C (p.Leu1111Pro) c.87T>C n.87T>C c.2410T>C c.9T>C c.3383T>C (p.Leu1128Pro) c.2918T>C (p.Leu973Pro) | |
18 | g.23535614A>T | CA401791430 | NPC1 | c.3332T>A (p.Leu1111Gln) c.87T>A n.87T>A c.2410T>A c.9T>A c.3383T>A (p.Leu1128Gln) c.2918T>A (p.Leu973Gln) | |
18 | g.23535615G>A | CA145962 | NPC1 | c.3331C>T (p.Leu1111=) c.86C>T n.86C>T c.2409C>T c.8C>T c.3382C>T (p.Leu1128=) c.2917C>T (p.Leu973=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535615G>C | CA401791431 | NPC1 | c.3331C>G (p.Leu1111Val) c.86C>G n.86C>G c.2409C>G c.8C>G c.3382C>G (p.Leu1128Val) c.2917C>G (p.Leu973Val) | |
18 | g.23535615G= | CA2290163913 | NPC1 | c.3331C= (p.Leu1111=) c.86C= n.86C= c.2409C= c.8C= c.3382C= (p.Leu1128=) c.2917C= (p.Leu973=) | |
18 | g.23535615G>T | CA401791432 | NPC1 | c.3331C>A (p.Leu1111Met) c.86C>A n.86C>A c.2409C>A c.8C>A c.3382C>A (p.Leu1128Met) c.2917C>A (p.Leu973Met) | gnomAD v4 |
18 | g.23535616A>C | CA401791433 | NPC1 | c.3330T>G (p.Phe1110Leu) c.85T>G n.85T>G c.2408T>G c.7T>G c.3381T>G (p.Phe1127Leu) c.2916T>G (p.Phe972Leu) | dbSNP |
18 | g.23535616A>G | CA503521733 | NPC1 | c.3330T>C (p.Phe1110=) c.85T>C n.85T>C c.2408T>C c.7T>C c.3381T>C (p.Phe1127=) c.2916T>C (p.Phe972=) | |
18 | g.23535616A>T | CA401791434 | NPC1 | c.3330T>A (p.Phe1110Leu) c.85T>A n.85T>A c.2408T>A c.7T>A c.3381T>A (p.Phe1127Leu) c.2916T>A (p.Phe972Leu) | |
18 | g.23535617A>C | CA401791436 | NPC1 | c.3329T>G (p.Phe1110Cys) c.84T>G n.84T>G c.2407T>G c.6T>G c.3380T>G (p.Phe1127Cys) c.2915T>G (p.Phe972Cys) | |
18 | g.23535617A>G | CA401791437 | NPC1 | c.3329T>C (p.Phe1110Ser) c.84T>C n.84T>C c.2407T>C c.6T>C c.3380T>C (p.Phe1127Ser) c.2915T>C (p.Phe972Ser) | |
18 | g.23535617A>T | CA401791435 | NPC1 | c.3329T>A (p.Phe1110Tyr) c.84T>A n.84T>A c.2407T>A c.6T>A c.3380T>A (p.Phe1127Tyr) c.2915T>A (p.Phe972Tyr) | |
18 | g.23535618A= | CA2290163914 | NPC1 | c.3328T= (p.Phe1110=) c.83T= n.83T= c.2406T= c.5T= c.3379T= (p.Phe1127=) c.2914T= (p.Phe972=) | |
18 | g.23535618A>C | CA401791438 | NPC1 | c.3328T>G (p.Phe1110Val) c.83T>G n.83T>G c.2406T>G c.5T>G c.3379T>G (p.Phe1127Val) c.2914T>G (p.Phe972Val) | |
18 | g.23535618A>G | CA8912795 | NPC1 | c.3328T>C (p.Phe1110Leu) c.83T>C n.83T>C c.2406T>C c.5T>C c.3379T>C (p.Phe1127Leu) c.2914T>C (p.Phe972Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23535618A>T | CA401791439 | NPC1 | c.3328T>A (p.Phe1110Ile) c.83T>A n.83T>A c.2406T>A c.5T>A c.3379T>A (p.Phe1127Ile) c.2914T>A (p.Phe972Ile) | |
18 | g.23535619T>A | CA503521734 | NPC1 | c.3327A>T (p.Ile1109=) c.82A>T n.82A>T c.2405A>T c.4A>T c.3378A>T (p.Ile1126=) c.2913A>T (p.Ile971=) | |
18 | g.23535619T>C | CA401791440 | NPC1 | c.3327A>G (p.Ile1109Met) c.82A>G n.82A>G c.2405A>G c.4A>G c.3378A>G (p.Ile1126Met) c.2913A>G (p.Ile971Met) | |
18 | g.23535619T>G | CA503521735 | NPC1 | c.3327A>C (p.Ile1109=) c.82A>C n.82A>C c.2405A>C c.4A>C c.3378A>C (p.Ile1126=) c.2913A>C (p.Ile971=) | |
18 | g.23535620A>C | CA401791441 | NPC1 | c.3326T>G (p.Ile1109Arg) c.81T>G n.81T>G c.2404T>G c.3T>G c.3377T>G (p.Ile1126Arg) c.2912T>G (p.Ile971Arg) | |
18 | g.23535620A>G | CA401791442 | NPC1 | c.3326T>C (p.Ile1109Thr) c.81T>C n.81T>C c.2404T>C c.3T>C c.3377T>C (p.Ile1126Thr) c.2912T>C (p.Ile971Thr) | gnomAD v4 |
18 | g.23535620A>T | CA401791443 | NPC1 | c.3326T>A (p.Ile1109Lys) c.81T>A n.81T>A c.2404T>A c.3T>A c.3377T>A (p.Ile1126Lys) c.2912T>A (p.Ile971Lys) | |
18 | g.23535620_23535621delinsAT | CA2290163915 | NPC1 | c.3325_3326delinsAT (p.Ile1109=) c.80_81delinsAT n.80_81delinsAT c.2403_2404delinsAT c.2_3delinsAT c.3376_3377delinsAT (p.Ile1126=) c.2911_2912delinsAT (p.Ile971=) | |
18 | g.23535621del | CA16041910 | NPC1 | c.3325del (p.Ile1109TyrfsTer4) c.80del n.80del c.2403del c.2del c.3376del (p.Ile1126TyrfsTer4) c.2911del (p.Ile971TyrfsTer4) | ClinVar dbSNP |
18 | g.23535621T>A | CA401791444 | NPC1 | c.3325A>T (p.Ile1109Leu) c.80A>T n.80A>T c.2403A>T c.2A>T c.3376A>T (p.Ile1126Leu) c.2911A>T (p.Ile971Leu) | gnomAD v4 |
18 | g.23535621T>C | CA297079228 | NPC1 | c.3325A>G (p.Ile1109Val) c.80A>G n.80A>G c.2403A>G c.2A>G c.3376A>G (p.Ile1126Val) c.2911A>G (p.Ile971Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23535621T>G | CA401791445 | NPC1 | c.3325A>C (p.Ile1109Leu) c.80A>C n.80A>C c.2403A>C c.2A>C c.3376A>C (p.Ile1126Leu) c.2911A>C (p.Ile971Leu) | |
18 | g.23535621T= | CA2290163916 | NPC1 | c.3325A= (p.Ile1109=) c.80A= n.80A= c.2403A= c.2A= c.3376A= (p.Ile1126=) c.2911A= (p.Ile971=) | |
18 | g.23535622C>A | CA503521736 | NPC1 | c.3324G>T (p.Ala1108=) c.79G>T n.79G>T c.2402G>T c.1G>T c.3375G>T (p.Ala1125=) c.2910G>T (p.Ala970=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535622C= | CA2290163917 | NPC1 | c.3324G= (p.Ala1108=) c.79G= n.79G= c.2402G= c.1G= c.3375G= (p.Ala1125=) c.2910G= (p.Ala970=) | |
18 | g.23535622C>G | CA503521737 | NPC1 | c.3324G>C (p.Ala1108=) c.79G>C n.79G>C c.2402G>C c.1G>C c.3375G>C (p.Ala1125=) c.2910G>C (p.Ala970=) | |
18 | g.23535622C>T | CA8912796 | NPC1 | c.3324G>A (p.Ala1108=) c.79G>A n.79G>A c.2402G>A c.1G>A c.3375G>A (p.Ala1125=) c.2910G>A (p.Ala970=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535623G>A | CA8912797 | NPC1 | c.3323C>T (p.Ala1108Val) c.78C>T n.78C>T c.2401C>T c.3374C>T (p.Ala1125Val) c.2909C>T (p.Ala970Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23535623G>C | CA401791446 | NPC1 | c.3323C>G (p.Ala1108Gly) c.78C>G n.78C>G c.2401C>G c.3374C>G (p.Ala1125Gly) c.2909C>G (p.Ala970Gly) | |
18 | g.23535623G= | CA2290163918 | NPC1 | c.3323C= (p.Ala1108=) c.78C= n.78C= c.2401C= c.3374C= (p.Ala1125=) c.2909C= (p.Ala970=) | |
18 | g.23535623G>T | CA401791447 | NPC1 | c.3323C>A (p.Ala1108Glu) c.78C>A n.78C>A c.2401C>A c.3374C>A (p.Ala1125Glu) c.2909C>A (p.Ala970Glu) | |
18 | g.23535624C>A | CA401791449 | NPC1 | c.3322G>T (p.Ala1108Ser) c.77G>T n.77G>T c.2400G>T c.3373G>T (p.Ala1125Ser) c.2908G>T (p.Ala970Ser) | |
18 | g.23535624C= | CA2290163919 | NPC1 | c.3322G= (p.Ala1108=) c.77G= n.77G= c.2400G= c.3373G= (p.Ala1125=) c.2908G= (p.Ala970=) | |
18 | g.23535624C>G | CA401791448 | NPC1 | c.3322G>C (p.Ala1108Pro) c.77G>C n.77G>C c.2400G>C c.3373G>C (p.Ala1125Pro) c.2908G>C (p.Ala970Pro) | |
18 | g.23535624C>T | CA8912798 | NPC1 | c.3322G>A (p.Ala1108Thr) c.77G>A n.77G>A c.2400G>A c.3373G>A (p.Ala1125Thr) c.2908G>A (p.Ala970Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535624dup | CA2580095546 | NPC1 | c.3322dup (p.Ala1108GlyfsTer13) c.77dup n.77dup c.2400dup c.3373dup (p.Ala1125GlyfsTer13) c.2908dup (p.Ala970GlyfsTer13) | ClinVar dbSNP gnomAD v4 |
18 | g.23535625G>A | CA8912800 | NPC1 | c.3321C>T (p.Gly1107=) c.76C>T n.76C>T c.2399C>T c.3372C>T (p.Gly1124=) c.2907C>T (p.Gly969=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23535625G>C | CA503521738 | NPC1 | c.3321C>G (p.Gly1107=) c.76C>G n.76C>G c.2399C>G c.3372C>G (p.Gly1124=) c.2907C>G (p.Gly969=) | |
18 | g.23535625G= | CA2290163920 | NPC1 | c.3321C= (p.Gly1107=) c.76C= n.76C= c.2399C= c.3372C= (p.Gly1124=) c.2907C= (p.Gly969=) | |
18 | g.23535625G>T | CA8912799 | NPC1 | c.3321C>A (p.Gly1107=) c.76C>A n.76C>A c.2399C>A c.3372C>A (p.Gly1124=) c.2907C>A (p.Gly969=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535626C>A | CA401791450 | NPC1 | c.3320G>T (p.Gly1107Val) c.75G>T n.75G>T c.2398G>T c.3371G>T (p.Gly1124Val) c.2906G>T (p.Gly969Val) | |
18 | g.23535626C>G | CA401791451 | NPC1 | c.3320G>C (p.Gly1107Ala) c.75G>C n.75G>C c.2398G>C c.3371G>C (p.Gly1124Ala) c.2906G>C (p.Gly969Ala) | |
18 | g.23535626C>T | CA401791452 | NPC1 | c.3320G>A (p.Gly1107Asp) c.75G>A n.75G>A c.2398G>A c.3371G>A (p.Gly1124Asp) c.2906G>A (p.Gly969Asp) | |
18 | g.23535628dup | CA2573155192 | NPC1 | c.3320dup (p.Ala1108ArgfsTer13) c.75dup n.75dup c.2398dup c.3371dup (p.Ala1125ArgfsTer13) c.2906dup (p.Ala970ArgfsTer13) | ClinVar dbSNP |
18 | g.23535627C>A | CA401791453 | NPC1 | c.3319G>T (p.Gly1107Cys) c.74G>T n.74G>T c.2397G>T c.3370G>T (p.Gly1124Cys) c.2905G>T (p.Gly969Cys) | |
18 | g.23535627C>G | CA401791454 | NPC1 | c.3319G>C (p.Gly1107Arg) c.74G>C n.74G>C c.2397G>C c.3370G>C (p.Gly1124Arg) c.2905G>C (p.Gly969Arg) | |
18 | g.23535627C>T | CA401791455 | NPC1 | c.3319G>A (p.Gly1107Ser) c.74G>A n.74G>A c.2397G>A c.3370G>A (p.Gly1124Ser) c.2905G>A (p.Gly969Ser) | gnomAD v4 |
18 | g.23535628C>A | CA503521739 | NPC1 | c.3318G>T (p.Leu1106=) c.73G>T n.73G>T c.2396G>T c.3369G>T (p.Leu1123=) c.2904G>T (p.Leu968=) | |
18 | g.23535628C= | CA2290163921 | NPC1 | c.3318G= (p.Leu1106=) c.73G= n.73G= c.2396G= c.3369G= (p.Leu1123=) c.2904G= (p.Leu968=) | |
18 | g.23535628C>G | CA503521740 | NPC1 | c.3318G>C (p.Leu1106=) c.73G>C n.73G>C c.2396G>C c.3369G>C (p.Leu1123=) c.2904G>C (p.Leu968=) | |
18 | g.23535628C>T | CA503521741 | NPC1 | c.3318G>A (p.Leu1106=) c.73G>A n.73G>A c.2396G>A c.3369G>A (p.Leu1123=) c.2904G>A (p.Leu968=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535629A>C | CA401791456 | NPC1 | c.3317T>G (p.Leu1106Arg) c.72T>G n.72T>G c.2395T>G c.3368T>G (p.Leu1123Arg) c.2903T>G (p.Leu968Arg) | |
18 | g.23535629A>G | CA401791457 | NPC1 | c.3317T>C (p.Leu1106Pro) c.72T>C n.72T>C c.2395T>C c.3368T>C (p.Leu1123Pro) c.2903T>C (p.Leu968Pro) | |
18 | g.23535629A>T | CA401791458 | NPC1 | c.3317T>A (p.Leu1106Gln) c.72T>A n.72T>A c.2395T>A c.3368T>A (p.Leu1123Gln) c.2903T>A (p.Leu968Gln) | |
18 | g.23535630G>A | CA503521742 | NPC1 | c.3316C>T (p.Leu1106=) c.71C>T n.71C>T c.2394C>T c.3367C>T (p.Leu1123=) c.2902C>T (p.Leu968=) | |
18 | g.23535630G>C | CA401791459 | NPC1 | c.3316C>G (p.Leu1106Val) c.71C>G n.71C>G c.2394C>G c.3367C>G (p.Leu1123Val) c.2902C>G (p.Leu968Val) | gnomAD v4 |
18 | g.23535630G>T | CA401791460 | NPC1 | c.3316C>A (p.Leu1106Met) c.71C>A n.71C>A c.2394C>A c.3367C>A (p.Leu1123Met) c.2902C>A (p.Leu968Met) | |
18 | g.23535631G>A | CA503521743 | NPC1 | c.3315C>T (p.Ser1105=) c.70C>T n.70C>T c.2393C>T c.3366C>T (p.Ser1122=) c.2901C>T (p.Ser967=) | ClinVar dbSNP gnomAD v4 |
18 | g.23535631G>C | CA503521744 | NPC1 | c.3315C>G (p.Ser1105=) c.70C>G n.70C>G c.2393C>G c.3366C>G (p.Ser1122=) c.2901C>G (p.Ser967=) | |
18 | g.23535631G>T | CA503521745 | NPC1 | c.3315C>A (p.Ser1105=) c.70C>A n.70C>A c.2393C>A c.3366C>A (p.Ser1122=) c.2901C>A (p.Ser967=) | |
18 | g.23535632G>A | CA401791462 | NPC1 | c.3314C>T (p.Ser1105Phe) c.69C>T n.69C>T c.2392C>T c.3365C>T (p.Ser1122Phe) c.2900C>T (p.Ser967Phe) | dbSNP |
18 | g.23535632G>C | CA401791463 | NPC1 | c.3314C>G (p.Ser1105Cys) c.69C>G n.69C>G c.2392C>G c.3365C>G (p.Ser1122Cys) c.2900C>G (p.Ser967Cys) | |
18 | g.23535632G>T | CA401791461 | NPC1 | c.3314C>A (p.Ser1105Tyr) c.69C>A n.69C>A c.2392C>A c.3365C>A (p.Ser1122Tyr) c.2900C>A (p.Ser967Tyr) | ClinVar |
18 | g.23535633A>C | CA401791464 | NPC1 | c.3313T>G (p.Ser1105Ala) c.68T>G n.68T>G c.2391T>G c.3364T>G (p.Ser1122Ala) c.2899T>G (p.Ser967Ala) | |
18 | g.23535633A>G | CA401791465 | NPC1 | c.3313T>C (p.Ser1105Pro) c.68T>C n.68T>C c.2391T>C c.3364T>C (p.Ser1122Pro) c.2899T>C (p.Ser967Pro) | |
18 | g.23535633A>T | CA401791466 | NPC1 | c.3313T>A (p.Ser1105Thr) c.68T>A n.68T>A c.2391T>A c.3364T>A (p.Ser1122Thr) c.2899T>A (p.Ser967Thr) | |
18 | g.23535633_23535635del | CA2641278434 | NPC1 | c.3311_3313del (p.Val1104_Ser1105delinsAla) c.66_68del n.66_68del c.2389_2391del c.3362_3364del (p.Val1121_Ser1122delinsAla) c.2897_2899del (p.Val966_Ser967delinsAla) | gnomAD v4 |
18 | g.23535634C>A | CA503521746 | NPC1 | c.3312G>T (p.Val1104=) c.67G>T n.67G>T c.2390G>T c.3363G>T (p.Val1121=) c.2898G>T (p.Val966=) | |
18 | g.23535634C= | CA2290163922 | NPC1 | c.3312G= (p.Val1104=) c.67G= n.67G= c.2390G= c.3363G= (p.Val1121=) c.2898G= (p.Val966=) | |
18 | g.23535634C>G | CA503521747 | NPC1 | c.3312G>C (p.Val1104=) c.67G>C n.67G>C c.2390G>C c.3363G>C (p.Val1121=) c.2898G>C (p.Val966=) | |
18 | g.23535634C>T | CA8912801 | NPC1 | c.3312G>A (p.Val1104=) c.67G>A n.67G>A c.2390G>A c.3363G>A (p.Val1121=) c.2898G>A (p.Val966=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535635A>C | CA401791467 | NPC1 | c.3311T>G (p.Val1104Gly) c.66T>G n.66T>G c.2389T>G c.3362T>G (p.Val1121Gly) c.2897T>G (p.Val966Gly) | |
18 | g.23535635A>G | CA401791468 | NPC1 | c.3311T>C (p.Val1104Ala) c.66T>C n.66T>C c.2389T>C c.3362T>C (p.Val1121Ala) c.2897T>C (p.Val966Ala) | |
18 | g.23535635A>T | CA401791469 | NPC1 | c.3311T>A (p.Val1104Glu) c.66T>A n.66T>A c.2389T>A c.3362T>A (p.Val1121Glu) c.2897T>A (p.Val966Glu) | |
18 | g.23535636C>A | CA401791470 | NPC1 | c.3310G>T (p.Val1104Leu) c.65G>T n.65G>T c.2388G>T c.3361G>T (p.Val1121Leu) c.2896G>T (p.Val966Leu) | |
18 | g.23535636C= | CA2290163923 | NPC1 | c.3310G= (p.Val1104=) c.65G= n.65G= c.2388G= c.3361G= (p.Val1121=) c.2896G= (p.Val966=) | |
18 | g.23535636C>G | CA401791471 | NPC1 | c.3310G>C (p.Val1104Leu) c.65G>C n.65G>C c.2388G>C c.3361G>C (p.Val1121Leu) c.2896G>C (p.Val966Leu) | |
18 | g.23535636C>T | CA401791472 | NPC1 | c.3310G>A (p.Val1104Met) c.65G>A n.65G>A c.2388G>A c.3361G>A (p.Val1121Met) c.2896G>A (p.Val966Met) | |
18 | g.23535637A= | CA2290163924 | NPC1 | c.3309T= (p.Gly1103=) c.64T= n.64T= c.2387T= c.3360T= (p.Gly1120=) c.2895T= (p.Gly965=) | |
18 | g.23535637A>C | CA503521748 | NPC1 | c.3309T>G (p.Gly1103=) c.64T>G n.64T>G c.2387T>G c.3360T>G (p.Gly1120=) c.2895T>G (p.Gly965=) | |
18 | g.23535637A>G | CA503521750 | NPC1 | c.3309T>C (p.Gly1103=) c.64T>C n.64T>C c.2387T>C c.3360T>C (p.Gly1120=) c.2895T>C (p.Gly965=) | dbSNP |
18 | g.23535637A>T | CA503521749 | NPC1 | c.3309T>A (p.Gly1103=) c.64T>A n.64T>A c.2387T>A c.3360T>A (p.Gly1120=) c.2895T>A (p.Gly965=) | ClinVar dbSNP |
18 | g.23535637dup | CA16041911 | NPC1 | c.3309dup (p.Val1104CysfsTer17) c.64dup n.64dup c.2387dup c.3360dup (p.Val1121CysfsTer17) c.2895dup (p.Val966CysfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535638C>A | CA401791475 | NPC1 | c.3308G>T (p.Gly1103Val) c.63G>T n.63G>T c.2386G>T c.3359G>T (p.Gly1120Val) c.2894G>T (p.Gly965Val) | gnomAD v4 |
18 | g.23535638C>G | CA401791474 | NPC1 | c.3308G>C (p.Gly1103Ala) c.63G>C n.63G>C c.2386G>C c.3359G>C (p.Gly1120Ala) c.2894G>C (p.Gly965Ala) | |
18 | g.23535638C>T | CA401791473 | NPC1 | c.3308G>A (p.Gly1103Asp) c.63G>A n.63G>A c.2386G>A c.3359G>A (p.Gly1120Asp) c.2894G>A (p.Gly965Asp) | gnomAD v4 |
18 | g.23535639C>A | CA401791476 | NPC1 | c.3307G>T (p.Gly1103Cys) c.62G>T n.62G>T c.2385G>T c.3358G>T (p.Gly1120Cys) c.2893G>T (p.Gly965Cys) | gnomAD v4 |
18 | g.23535639C= | CA2290163925 | NPC1 | c.3307G= (p.Gly1103=) c.62G= n.62G= c.2385G= c.3358G= (p.Gly1120=) c.2893G= (p.Gly965=) | |
18 | g.23535639C>G | CA401791477 | NPC1 | c.3307G>C (p.Gly1103Arg) c.62G>C n.62G>C c.2385G>C c.3358G>C (p.Gly1120Arg) c.2893G>C (p.Gly965Arg) | dbSNP gnomAD v4 |
18 | g.23535639C>T | CA401791478 | NPC1 | c.3307G>A (p.Gly1103Ser) c.62G>A n.62G>A c.2385G>A c.3358G>A (p.Gly1120Ser) c.2893G>A (p.Gly965Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23535640G>A | CA8912802 | NPC1 | c.3306C>T (p.Leu1102=) c.61C>T n.61C>T c.2384C>T c.3357C>T (p.Leu1119=) c.2892C>T (p.Leu964=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535640G>C | CA503521751 | NPC1 | c.3306C>G (p.Leu1102=) c.61C>G n.61C>G c.2384C>G c.3357C>G (p.Leu1119=) c.2892C>G (p.Leu964=) | |
18 | g.23535640G= | CA2290163926 | NPC1 | c.3306C= (p.Leu1102=) c.61C= n.61C= c.2384C= c.3357C= (p.Leu1119=) c.2892C= (p.Leu964=) | |
18 | g.23535640G>T | CA503521752 | NPC1 | c.3306C>A (p.Leu1102=) c.61C>A n.61C>A c.2384C>A c.3357C>A (p.Leu1119=) c.2892C>A (p.Leu964=) | |
18 | g.23535641A>C | CA401791479 | NPC1 | c.3305T>G (p.Leu1102Arg) c.60T>G n.60T>G c.2383T>G c.3356T>G (p.Leu1119Arg) c.2891T>G (p.Leu964Arg) | |
18 | g.23535641A>G | CA401791480 | NPC1 | c.3305T>C (p.Leu1102Pro) c.60T>C n.60T>C c.2383T>C c.3356T>C (p.Leu1119Pro) c.2891T>C (p.Leu964Pro) | |
18 | g.23535641A>T | CA401791481 | NPC1 | c.3305T>A (p.Leu1102His) c.60T>A n.60T>A c.2383T>A c.3356T>A (p.Leu1119His) c.2891T>A (p.Leu964His) | |
18 | g.23535642G>A | CA401791482 | NPC1 | c.3304C>T (p.Leu1102Phe) c.59C>T n.59C>T c.2382C>T c.3355C>T (p.Leu1119Phe) c.2890C>T (p.Leu964Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535642G>C | CA401791483 | NPC1 | c.3304C>G (p.Leu1102Val) c.59C>G n.59C>G c.2382C>G c.3355C>G (p.Leu1119Val) c.2890C>G (p.Leu964Val) | |
18 | g.23535642G= | CA2290163927 | NPC1 | c.3304C= (p.Leu1102=) c.59C= n.59C= c.2382C= c.3355C= (p.Leu1119=) c.2890C= (p.Leu964=) | |
18 | g.23535642G>T | CA401791484 | NPC1 | c.3304C>A (p.Leu1102Ile) c.59C>A n.59C>A c.2382C>A c.3355C>A (p.Leu1119Ile) c.2890C>A (p.Leu964Ile) |