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.23535520C>A | CA401791225 | NPC1 | c.3426G>T (p.Met1142Ile) c.181G>T n.181G>T c.2504G>T c.103G>T c.3477G>T (p.Met1159Ile) c.3012G>T (p.Met1004Ile) | |
18 | g.23535520C= | CA2290163867 | NPC1 | c.3426G= (p.Met1142=) c.181G= n.181G= c.2504G= c.103G= c.3477G= (p.Met1159=) c.3012G= (p.Met1004=) | |
18 | g.23535520C>G | CA401791226 | NPC1 | c.3426G>C (p.Met1142Ile) c.181G>C n.181G>C c.2504G>C c.103G>C c.3477G>C (p.Met1159Ile) c.3012G>C (p.Met1004Ile) | |
18 | g.23535520C>T | CA401791227 | NPC1 | c.3426G>A (p.Met1142Ile) c.181G>A n.181G>A c.2504G>A c.103G>A c.3477G>A (p.Met1159Ile) c.3012G>A (p.Met1004Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535521A= | CA2290163868 | NPC1 | c.3425T= (p.Met1142=) c.180T= n.180T= c.2503T= c.102T= c.3476T= (p.Met1159=) c.3011T= (p.Met1004=) | |
18 | g.23535521A>C | CA401791228 | NPC1 | c.3425T>G (p.Met1142Arg) c.180T>G n.180T>G c.2503T>G c.102T>G c.3476T>G (p.Met1159Arg) c.3011T>G (p.Met1004Arg) | |
18 | g.23535521A>G | CA8912782 | NPC1 | c.3425T>C (p.Met1142Thr) c.180T>C n.180T>C c.2503T>C c.102T>C c.3476T>C (p.Met1159Thr) c.3011T>C (p.Met1004Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23535521A>T | CA401791229 | NPC1 | c.3425T>A (p.Met1142Lys) c.180T>A n.180T>A c.2503T>A c.102T>A c.3476T>A (p.Met1159Lys) c.3011T>A (p.Met1004Lys) | |
18 | g.23535522T>A | CA401791230 | NPC1 | c.3424A>T (p.Met1142Leu) c.179A>T n.179A>T c.2502A>T c.101A>T c.3475A>T (p.Met1159Leu) c.3010A>T (p.Met1004Leu) | gnomAD v4 |
18 | g.23535522T>C | CA401791232 | NPC1 | c.3424A>G (p.Met1142Val) c.179A>G n.179A>G c.2502A>G c.101A>G c.3475A>G (p.Met1159Val) c.3010A>G (p.Met1004Val) | |
18 | g.23535522T>G | CA401791231 | NPC1 | c.3424A>C (p.Met1142Leu) c.179A>C n.179A>C c.2502A>C c.101A>C c.3475A>C (p.Met1159Leu) c.3010A>C (p.Met1004Leu) | |
18 | g.23535522_23535529delinsTAACTCCA | CA2290163869 | NPC1 | c.3417_3424delinsTGGAGTTA (p.Phe1139=) c.172_179delinsTGGAGTTA n.172_179delinsTGGAGTTA c.2495_2502delinsTGGAGTTA c.94_101delinsTGGAGTTA c.3468_3475delinsTGGAGTTA (p.Phe1156=) c.3003_3010delinsTGGAGTTA (p.Phe1001=) | |
18 | g.23535523A>C | CA503521672 | NPC1 | c.3423T>G (p.Val1141=) c.178T>G n.178T>G c.2501T>G c.100T>G c.3474T>G (p.Val1158=) c.3009T>G (p.Val1003=) | ClinVar dbSNP |
18 | g.23535523A>G | CA503521673 | NPC1 | c.3423T>C (p.Val1141=) c.178T>C n.178T>C c.2501T>C c.100T>C c.3474T>C (p.Val1158=) c.3009T>C (p.Val1003=) | gnomAD v4 |
18 | g.23535523A>T | CA503521674 | NPC1 | c.3423T>A (p.Val1141=) c.178T>A n.178T>A c.2501T>A c.100T>A c.3474T>A (p.Val1158=) c.3009T>A (p.Val1003=) | |
18 | g.23535526_23535532del | CA16041909 | NPC1 | c.3417_3423del (p.Phe1139LeufsTer9) c.172_178del n.172_178del c.2495_2501del c.94_100del c.3468_3474del (p.Phe1156LeufsTer9) c.3003_3009del (p.Phe1001LeufsTer9) | ClinVar dbSNP |
18 | g.23535524A= | CA2290163870 | NPC1 | c.3422T= (p.Val1141=) c.177T= n.177T= c.2500T= c.99T= c.3473T= (p.Val1158=) c.3008T= (p.Val1003=) | |
18 | g.23535524A>C | CA297079167 | NPC1 | c.3422T>G (p.Val1141Gly) c.177T>G n.177T>G c.2500T>G c.99T>G c.3473T>G (p.Val1158Gly) c.3008T>G (p.Val1003Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535524A>G | CA401791233 | NPC1 | c.3422T>C (p.Val1141Ala) c.177T>C n.177T>C c.2500T>C c.99T>C c.3473T>C (p.Val1158Ala) c.3008T>C (p.Val1003Ala) | gnomAD v4 |
18 | g.23535524A>T | CA401791234 | NPC1 | c.3422T>A (p.Val1141Asp) c.177T>A n.177T>A c.2500T>A c.99T>A c.3473T>A (p.Val1158Asp) c.3008T>A (p.Val1003Asp) | |
18 | g.23535525C>A | CA401791235 | NPC1 | c.3421G>T (p.Val1141Phe) c.176G>T n.176G>T c.2499G>T c.98G>T c.3472G>T (p.Val1158Phe) c.3007G>T (p.Val1003Phe) | |
18 | g.23535525C>G | CA401791236 | NPC1 | c.3421G>C (p.Val1141Leu) c.176G>C n.176G>C c.2499G>C c.98G>C c.3472G>C (p.Val1158Leu) c.3007G>C (p.Val1003Leu) | |
18 | g.23535525C>T | CA401791237 | NPC1 | c.3421G>A (p.Val1141Ile) c.176G>A n.176G>A c.2499G>A c.98G>A c.3472G>A (p.Val1158Ile) c.3007G>A (p.Val1003Ile) | |
18 | g.23535526T>A | CA503521675 | NPC1 | c.3420A>T (p.Gly1140=) c.175A>T n.175A>T c.2498A>T c.97A>T c.3471A>T (p.Gly1157=) c.3006A>T (p.Gly1002=) | |
18 | g.23535526T>C | CA503521676 | NPC1 | c.3420A>G (p.Gly1140=) c.175A>G n.175A>G c.2498A>G c.97A>G c.3471A>G (p.Gly1157=) c.3006A>G (p.Gly1002=) | ClinVar dbSNP gnomAD v4 |
18 | g.23535526T>G | CA503521677 | NPC1 | c.3420A>C (p.Gly1140=) c.175A>C n.175A>C c.2498A>C c.97A>C c.3471A>C (p.Gly1157=) c.3006A>C (p.Gly1002=) | |
18 | g.23535527C>A | CA401791238 | NPC1 | c.3419G>T (p.Gly1140Val) c.174G>T n.174G>T c.2497G>T c.96G>T c.3470G>T (p.Gly1157Val) c.3005G>T (p.Gly1002Val) | ClinVar dbSNP gnomAD v4 |
18 | g.23535527C= | CA2290163871 | NPC1 | c.3419G= (p.Gly1140=) c.174G= n.174G= c.2497G= c.96G= c.3470G= (p.Gly1157=) c.3005G= (p.Gly1002=) | |
18 | g.23535527C>G | CA401791239 | NPC1 | c.3419G>C (p.Gly1140Ala) c.174G>C n.174G>C c.2497G>C c.96G>C c.3470G>C (p.Gly1157Ala) c.3005G>C (p.Gly1002Ala) | |
18 | g.23535527C>T | CA401791240 | NPC1 | c.3419G>A (p.Gly1140Glu) c.174G>A n.174G>A c.2497G>A c.96G>A c.3470G>A (p.Gly1157Glu) c.3005G>A (p.Gly1002Glu) | |
18 | g.23535528C>A | CA401791241 | NPC1 | c.3418G>T (p.Gly1140Ter) c.173G>T n.173G>T c.2496G>T c.95G>T c.3469G>T (p.Gly1157Ter) c.3004G>T (p.Gly1002Ter) | |
18 | g.23535528C>G | CA401791242 | NPC1 | c.3418G>C (p.Gly1140Arg) c.173G>C n.173G>C c.2496G>C c.95G>C c.3469G>C (p.Gly1157Arg) c.3004G>C (p.Gly1002Arg) | |
18 | g.23535528C>T | CA401791243 | NPC1 | c.3418G>A (p.Gly1140Arg) c.173G>A n.173G>A c.2496G>A c.95G>A c.3469G>A (p.Gly1157Arg) c.3004G>A (p.Gly1002Arg) | gnomAD v4 |
18 | g.23535529A>C | CA401791245 | NPC1 | c.3417T>G (p.Phe1139Leu) c.172T>G n.172T>G c.2495T>G c.94T>G c.3468T>G (p.Phe1156Leu) c.3003T>G (p.Phe1001Leu) | |
18 | g.23535529A>G | CA503521678 | NPC1 | c.3417T>C (p.Phe1139=) c.172T>C n.172T>C c.2495T>C c.94T>C c.3468T>C (p.Phe1156=) c.3003T>C (p.Phe1001=) | ClinVar dbSNP |
18 | g.23535529A>T | CA401791244 | NPC1 | c.3417T>A (p.Phe1139Leu) c.172T>A n.172T>A c.2495T>A c.94T>A c.3468T>A (p.Phe1156Leu) c.3003T>A (p.Phe1001Leu) | |
18 | g.23535530A>C | CA401791246 | NPC1 | c.3416T>G (p.Phe1139Cys) c.171T>G n.171T>G c.2494T>G c.93T>G c.3467T>G (p.Phe1156Cys) c.3002T>G (p.Phe1001Cys) | |
18 | g.23535530A>G | CA401791247 | NPC1 | c.3416T>C (p.Phe1139Ser) c.171T>C n.171T>C c.2494T>C c.93T>C c.3467T>C (p.Phe1156Ser) c.3002T>C (p.Phe1001Ser) | |
18 | g.23535530A>T | CA401791248 | NPC1 | c.3416T>A (p.Phe1139Tyr) c.171T>A n.171T>A c.2494T>A c.93T>A c.3467T>A (p.Phe1156Tyr) c.3002T>A (p.Phe1001Tyr) | gnomAD v4 |
18 | g.23535531A>C | CA401791249 | NPC1 | c.3415T>G (p.Phe1139Val) c.170T>G n.170T>G c.2493T>G c.92T>G c.3466T>G (p.Phe1156Val) c.3001T>G (p.Phe1001Val) | |
18 | g.23535531A>G | CA401791250 | NPC1 | c.3415T>C (p.Phe1139Leu) c.170T>C n.170T>C c.2493T>C c.92T>C c.3466T>C (p.Phe1156Leu) c.3001T>C (p.Phe1001Leu) | gnomAD v4 |
18 | g.23535531A>T | CA401791251 | NPC1 | c.3415T>A (p.Phe1139Ile) c.170T>A n.170T>A c.2493T>A c.92T>A c.3466T>A (p.Phe1156Ile) c.3001T>A (p.Phe1001Ile) | |
18 | g.23535532C>A | CA401791252 | NPC1 | c.3414G>T (p.Met1138Ile) c.169G>T n.169G>T c.2492G>T c.91G>T c.3465G>T (p.Met1155Ile) c.3000G>T (p.Met1000Ile) | |
18 | g.23535532C>G | CA401791253 | NPC1 | c.3414G>C (p.Met1138Ile) c.169G>C n.169G>C c.2492G>C c.91G>C c.3465G>C (p.Met1155Ile) c.3000G>C (p.Met1000Ile) | |
18 | g.23535532C>T | CA401791254 | NPC1 | c.3414G>A (p.Met1138Ile) c.169G>A n.169G>A c.2492G>A c.91G>A c.3465G>A (p.Met1155Ile) c.3000G>A (p.Met1000Ile) | |
18 | g.23535533A>C | CA401791255 | NPC1 | c.3413T>G (p.Met1138Arg) c.168T>G n.168T>G c.2491T>G c.90T>G c.3464T>G (p.Met1155Arg) c.2999T>G (p.Met1000Arg) | gnomAD v4 |
18 | g.23535533A>G | CA401791256 | NPC1 | c.3413T>C (p.Met1138Thr) c.168T>C n.168T>C c.2491T>C c.90T>C c.3464T>C (p.Met1155Thr) c.2999T>C (p.Met1000Thr) | ClinVar |
18 | g.23535533A>T | CA401791257 | NPC1 | c.3413T>A (p.Met1138Lys) c.168T>A n.168T>A c.2491T>A c.90T>A c.3464T>A (p.Met1155Lys) c.2999T>A (p.Met1000Lys) | |
18 | g.23535533_23535534del | CA2580095540 | NPC1 | c.3412_3413del (p.Met1138ValfsTer?) c.167_168del n.167_168del c.2490_2491del c.89_90del c.3463_3464del (p.Met1155ValfsTer?) c.2998_2999del (p.Met1000ValfsTer?) | ClinVar |
18 | g.23535534T>A | CA8912783 | NPC1 | c.3412A>T (p.Met1138Leu) c.167A>T n.167A>T c.2490A>T c.89A>T c.3463A>T (p.Met1155Leu) c.2998A>T (p.Met1000Leu) | dbSNP ExAC gnomAD v2 |
18 | g.23535534T>C | CA401791259 | NPC1 | c.3412A>G (p.Met1138Val) c.167A>G n.167A>G c.2490A>G c.89A>G c.3463A>G (p.Met1155Val) c.2998A>G (p.Met1000Val) | |
18 | g.23535534T>G | CA401791258 | NPC1 | c.3412A>C (p.Met1138Leu) c.167A>C n.167A>C c.2490A>C c.89A>C c.3463A>C (p.Met1155Leu) c.2998A>C (p.Met1000Leu) | |
18 | g.23535534T= | CA2290163872 | NPC1 | c.3412A= (p.Met1138=) c.167A= n.167A= c.2490A= c.89A= c.3463A= (p.Met1155=) c.2998A= (p.Met1000=) | |
18 | g.23535535G>A | CA503521679 | NPC1 | c.3411C>T (p.Asn1137=) c.166C>T n.166C>T c.2489C>T c.88C>T c.3462C>T (p.Asn1154=) c.2997C>T (p.Asn999=) | |
18 | g.23535535G>C | CA401791260 | NPC1 | c.3411C>G (p.Asn1137Lys) c.166C>G n.166C>G c.2489C>G c.88C>G c.3462C>G (p.Asn1154Lys) c.2997C>G (p.Asn999Lys) | |
18 | g.23535535G= | CA2290163873 | NPC1 | c.3411C= (p.Asn1137=) c.166C= n.166C= c.2489C= c.88C= c.3462C= (p.Asn1154=) c.2997C= (p.Asn999=) | |
18 | g.23535535G>T | CA401791261 | NPC1 | c.3411C>A (p.Asn1137Lys) c.166C>A n.166C>A c.2489C>A c.88C>A c.3462C>A (p.Asn1154Lys) c.2997C>A (p.Asn999Lys) | |
18 | g.23535536T>A | CA401791262 | NPC1 | c.3410A>T (p.Asn1137Ile) c.165A>T n.165A>T c.2488A>T c.87A>T c.3461A>T (p.Asn1154Ile) c.2996A>T (p.Asn999Ile) | |
18 | g.23535536T>C | CA401791263 | NPC1 | c.3410A>G (p.Asn1137Ser) c.165A>G n.165A>G c.2488A>G c.87A>G c.3461A>G (p.Asn1154Ser) c.2996A>G (p.Asn999Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.23535536T>G | CA401791264 | NPC1 | c.3410A>C (p.Asn1137Thr) c.165A>C n.165A>C c.2488A>C c.87A>C c.3461A>C (p.Asn1154Thr) c.2996A>C (p.Asn999Thr) | |
18 | g.23535536T= | CA2290163874 | NPC1 | c.3410A= (p.Asn1137=) c.165A= n.165A= c.2488A= c.87A= c.3461A= (p.Asn1154=) c.2996A= (p.Asn999=) | |
18 | g.23535537dup | CA297079171 | NPC1 | c.3410dup (p.Asn1137LysfsTer?) c.165dup n.165dup c.2488dup c.87dup c.3461dup (p.Asn1154LysfsTer?) c.2996dup (p.Asn999LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535537T>A | CA401791265 | NPC1 | c.3409A>T (p.Asn1137Tyr) c.164A>T n.164A>T c.2487A>T c.86A>T c.3460A>T (p.Asn1154Tyr) c.2995A>T (p.Asn999Tyr) | |
18 | g.23535537T>C | CA401791266 | NPC1 | c.3409A>G (p.Asn1137Asp) c.164A>G n.164A>G c.2487A>G c.86A>G c.3460A>G (p.Asn1154Asp) c.2995A>G (p.Asn999Asp) | |
18 | g.23535537T>G | CA401791267 | NPC1 | c.3409A>C (p.Asn1137His) c.164A>C n.164A>C c.2487A>C c.86A>C c.3460A>C (p.Asn1154His) c.2995A>C (p.Asn999His) | |
18 | g.23535538G>A | CA503521680 | NPC1 | c.3408C>T (p.Val1136=) c.163C>T n.163C>T c.2486C>T c.85C>T c.3459C>T (p.Val1153=) c.2994C>T (p.Val998=) | ClinVar dbSNP |
18 | g.23535538G>C | CA503521681 | NPC1 | c.3408C>G (p.Val1136=) c.163C>G n.163C>G c.2486C>G c.85C>G c.3459C>G (p.Val1153=) c.2994C>G (p.Val998=) | |
18 | g.23535538G>T | CA503521682 | NPC1 | c.3408C>A (p.Val1136=) c.163C>A n.163C>A c.2486C>A c.85C>A c.3459C>A (p.Val1153=) c.2994C>A (p.Val998=) | COSMIC COSMIC |
18 | g.23535539A>C | CA401791268 | NPC1 | c.3407T>G (p.Val1136Gly) c.162T>G n.162T>G c.2485T>G c.84T>G c.3458T>G (p.Val1153Gly) c.2993T>G (p.Val998Gly) | |
18 | g.23535539A>G | CA401791269 | NPC1 | c.3407T>C (p.Val1136Ala) c.162T>C n.162T>C c.2485T>C c.84T>C c.3458T>C (p.Val1153Ala) c.2993T>C (p.Val998Ala) | |
18 | g.23535539A>T | CA401791270 | NPC1 | c.3407T>A (p.Val1136Asp) c.162T>A n.162T>A c.2485T>A c.84T>A c.3458T>A (p.Val1153Asp) c.2993T>A (p.Val998Asp) | |
18 | g.23535540C>A | CA401791271 | NPC1 | c.3406G>T (p.Val1136Phe) c.161G>T n.161G>T c.2484G>T c.83G>T c.3457G>T (p.Val1153Phe) c.2992G>T (p.Val998Phe) | |
18 | g.23535540C>G | CA401791272 | NPC1 | c.3406G>C (p.Val1136Leu) c.161G>C n.161G>C c.2484G>C c.83G>C c.3457G>C (p.Val1153Leu) c.2992G>C (p.Val998Leu) | gnomAD v4 |
18 | g.23535540C>T | CA401791273 | NPC1 | c.3406G>A (p.Val1136Ile) c.161G>A n.161G>A c.2484G>A c.83G>A c.3457G>A (p.Val1153Ile) c.2992G>A (p.Val998Ile) | ClinVar gnomAD v4 |
18 | g.23535541C>A | CA401791274 | NPC1 | c.3405G>T (p.Leu1135Phe) c.160G>T n.160G>T c.2483G>T c.82G>T c.3456G>T (p.Leu1152Phe) c.2991G>T (p.Leu997Phe) | |
18 | g.23535541C>G | CA401791275 | NPC1 | c.3405G>C (p.Leu1135Phe) c.160G>C n.160G>C c.2483G>C c.82G>C c.3456G>C (p.Leu1152Phe) c.2991G>C (p.Leu997Phe) | |
18 | g.23535541C>T | CA503521683 | NPC1 | c.3405G>A (p.Leu1135=) c.160G>A n.160G>A c.2483G>A c.82G>A c.3456G>A (p.Leu1152=) c.2991G>A (p.Leu997=) | gnomAD v4 |
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=) |