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.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 |