WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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.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) |