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.23535490T>A | CA503521657 | NPC1 | c.3456A>T (p.Val1152=) c.211A>T n.211A>T c.2534A>T c.133A>T c.3507A>T (p.Val1169=) c.3042A>T (p.Val1014=) | |
| 18 | g.23535490T>C | CA503521659 | NPC1 | c.3456A>G (p.Val1152=) c.211A>G n.211A>G c.2534A>G c.133A>G c.3507A>G (p.Val1169=) c.3042A>G (p.Val1014=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535490T>G | CA503521658 | NPC1 | c.3456A>C (p.Val1152=) c.211A>C n.211A>C c.2534A>C c.133A>C c.3507A>C (p.Val1169=) c.3042A>C (p.Val1014=) | |
| 18 | g.23535490T= | CA2290163853 | NPC1 | c.3456A= (p.Val1152=) c.211A= n.211A= c.2534A= c.133A= c.3507A= (p.Val1169=) c.3042A= (p.Val1014=) | |
| 18 | g.23535491A>C | CA401791162 | NPC1 | c.3455T>G (p.Val1152Gly) c.210T>G n.210T>G c.2533T>G c.132T>G c.3506T>G (p.Val1169Gly) c.3041T>G (p.Val1014Gly) | |
| 18 | g.23535491A>G | CA401791161 | NPC1 | c.3455T>C (p.Val1152Ala) c.210T>C n.210T>C c.2533T>C c.132T>C c.3506T>C (p.Val1169Ala) c.3041T>C (p.Val1014Ala) | gnomAD v4 |
| 18 | g.23535491A>T | CA401791160 | NPC1 | c.3455T>A (p.Val1152Glu) c.210T>A n.210T>A c.2533T>A c.132T>A c.3506T>A (p.Val1169Glu) c.3041T>A (p.Val1014Glu) | |
| 18 | g.23535492C>A | CA401791163 | NPC1 | c.3454G>T (p.Val1152Leu) c.209G>T n.209G>T c.2532G>T c.131G>T c.3505G>T (p.Val1169Leu) c.3040G>T (p.Val1014Leu) | |
| 18 | g.23535492C= | CA2290163854 | NPC1 | c.3454G= (p.Val1152=) c.209G= n.209G= c.2532G= c.131G= c.3505G= (p.Val1169=) c.3040G= (p.Val1014=) | |
| 18 | g.23535492C>G | CA401791164 | NPC1 | c.3454G>C (p.Val1152Leu) c.209G>C n.209G>C c.2532G>C c.131G>C c.3505G>C (p.Val1169Leu) c.3040G>C (p.Val1014Leu) | |
| 18 | g.23535492C>T | CA401791165 | NPC1 | c.3454G>A (p.Val1152Ile) c.209G>A n.209G>A c.2532G>A c.131G>A c.3505G>A (p.Val1169Ile) c.3040G>A (p.Val1014Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535493A>C | CA503521660 | NPC1 | c.3453T>G (p.Ala1151=) c.208T>G n.208T>G c.2531T>G c.130T>G c.3504T>G (p.Ala1168=) c.3039T>G (p.Ala1013=) | |
| 18 | g.23535493A>G | CA503521661 | NPC1 | c.3453T>C (p.Ala1151=) c.208T>C n.208T>C c.2531T>C c.130T>C c.3504T>C (p.Ala1168=) c.3039T>C (p.Ala1013=) | gnomAD v4 |
| 18 | g.23535493A>T | CA503521662 | NPC1 | c.3453T>A (p.Ala1151=) c.208T>A n.208T>A c.2531T>A c.130T>A c.3504T>A (p.Ala1168=) c.3039T>A (p.Ala1013=) | ClinVar gnomAD v4 |
| 18 | g.23535494G>A | CA401791166 | NPC1 | c.3452C>T (p.Ala1151Val) c.207C>T n.207C>T c.2530C>T c.129C>T c.3503C>T (p.Ala1168Val) c.3038C>T (p.Ala1013Val) | |
| 18 | g.23535494G>C | CA401791167 | NPC1 | c.3452C>G (p.Ala1151Gly) c.207C>G n.207C>G c.2530C>G c.129C>G c.3503C>G (p.Ala1168Gly) c.3038C>G (p.Ala1013Gly) | |
| 18 | g.23535494G>T | CA401791168 | NPC1 | c.3452C>A (p.Ala1151Asp) c.207C>A n.207C>A c.2530C>A c.129C>A c.3503C>A (p.Ala1168Asp) c.3038C>A (p.Ala1013Asp) | |
| 18 | g.23535495C>A | CA401791169 | NPC1 | c.3451G>T (p.Ala1151Ser) c.206G>T n.206G>T c.2529G>T c.128G>T c.3502G>T (p.Ala1168Ser) c.3037G>T (p.Ala1013Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535495C= | CA2290163855 | NPC1 | c.3451G= (p.Ala1151=) c.206G= n.206G= c.2529G= c.128G= c.3502G= (p.Ala1168=) c.3037G= (p.Ala1013=) | |
| 18 | g.23535495C>G | CA401791170 | NPC1 | c.3451G>C (p.Ala1151Pro) c.206G>C n.206G>C c.2529G>C c.128G>C c.3502G>C (p.Ala1168Pro) c.3037G>C (p.Ala1013Pro) | |
| 18 | g.23535495C>T | CA8912773 | NPC1 | c.3451G>A (p.Ala1151Thr) c.206G>A n.206G>A c.2529G>A c.128G>A c.3502G>A (p.Ala1168Thr) c.3037G>A (p.Ala1013Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.23535496G>A | CA8912774 | NPC1 | c.3450C>T (p.Asn1150=) c.205C>T n.205C>T c.2528C>T c.127C>T c.3501C>T (p.Asn1167=) c.3036C>T (p.Asn1012=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535496G>C | CA401791171 | NPC1 | c.3450C>G (p.Asn1150Lys) c.205C>G n.205C>G c.2528C>G c.127C>G c.3501C>G (p.Asn1167Lys) c.3036C>G (p.Asn1012Lys) | |
| 18 | g.23535496G= | CA2290163856 | NPC1 | c.3450C= (p.Asn1150=) c.205C= n.205C= c.2528C= c.127C= c.3501C= (p.Asn1167=) c.3036C= (p.Asn1012=) | |
| 18 | g.23535496G>T | CA297079142 | NPC1 | c.3450C>A (p.Asn1150Lys) c.205C>A n.205C>A c.2528C>A c.127C>A c.3501C>A (p.Asn1167Lys) c.3036C>A (p.Asn1012Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535497T>A | CA401791174 | NPC1 | c.3449A>T (p.Asn1150Ile) c.204A>T n.204A>T c.2527A>T c.126A>T c.3500A>T (p.Asn1167Ile) c.3035A>T (p.Asn1012Ile) | |
| 18 | g.23535497T>C | CA401791173 | NPC1 | c.3449A>G (p.Asn1150Ser) c.204A>G n.204A>G c.2527A>G c.126A>G c.3500A>G (p.Asn1167Ser) c.3035A>G (p.Asn1012Ser) | |
| 18 | g.23535497T>G | CA401791172 | NPC1 | c.3449A>C (p.Asn1150Thr) c.204A>C n.204A>C c.2527A>C c.126A>C c.3500A>C (p.Asn1167Thr) c.3035A>C (p.Asn1012Thr) | |
| 18 | g.23535498T>A | CA401791177 | NPC1 | c.3448A>T (p.Asn1150Tyr) c.203A>T n.203A>T c.2526A>T c.125A>T c.3499A>T (p.Asn1167Tyr) c.3034A>T (p.Asn1012Tyr) | |
| 18 | g.23535498T>C | CA401791175 | NPC1 | c.3448A>G (p.Asn1150Asp) c.203A>G n.203A>G c.2526A>G c.125A>G c.3499A>G (p.Asn1167Asp) c.3034A>G (p.Asn1012Asp) | |
| 18 | g.23535498T>G | CA401791176 | NPC1 | c.3448A>C (p.Asn1150His) c.203A>C n.203A>C c.2526A>C c.125A>C c.3499A>C (p.Asn1167His) c.3034A>C (p.Asn1012His) | |
| 18 | g.23535499C>A | CA503521663 | NPC1 | c.3447G>T (p.Leu1149=) c.202G>T n.202G>T c.2525G>T c.124G>T c.3498G>T (p.Leu1166=) c.3033G>T (p.Leu1011=) | |
| 18 | g.23535499C= | CA2290163857 | NPC1 | c.3447G= (p.Leu1149=) c.202G= n.202G= c.2525G= c.124G= c.3498G= (p.Leu1166=) c.3033G= (p.Leu1011=) | |
| 18 | g.23535499C>G | CA503521664 | NPC1 | c.3447G>C (p.Leu1149=) c.202G>C n.202G>C c.2525G>C c.124G>C c.3498G>C (p.Leu1166=) c.3033G>C (p.Leu1011=) | |
| 18 | g.23535499C>T | CA8912775 | NPC1 | c.3447G>A (p.Leu1149=) c.202G>A n.202G>A c.2525G>A c.124G>A c.3498G>A (p.Leu1166=) c.3033G>A (p.Leu1011=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535500A>C | CA401791178 | NPC1 | c.3446T>G (p.Leu1149Arg) c.201T>G n.201T>G c.2524T>G c.123T>G c.3497T>G (p.Leu1166Arg) c.3032T>G (p.Leu1011Arg) | |
| 18 | g.23535500A>G | CA401791179 | NPC1 | c.3446T>C (p.Leu1149Pro) c.201T>C n.201T>C c.2524T>C c.123T>C c.3497T>C (p.Leu1166Pro) c.3032T>C (p.Leu1011Pro) | |
| 18 | g.23535500A>T | CA401791180 | NPC1 | c.3446T>A (p.Leu1149Gln) c.201T>A n.201T>A c.2524T>A c.123T>A c.3497T>A (p.Leu1166Gln) c.3032T>A (p.Leu1011Gln) | |
| 18 | g.23535501G>A | CA503521665 | NPC1 | c.3445C>T (p.Leu1149=) c.200C>T n.200C>T c.2523C>T c.122C>T c.3496C>T (p.Leu1166=) c.3031C>T (p.Leu1011=) | ClinVar |
| 18 | g.23535501G>C | CA401791181 | NPC1 | c.3445C>G (p.Leu1149Val) c.200C>G n.200C>G c.2523C>G c.122C>G c.3496C>G (p.Leu1166Val) c.3031C>G (p.Leu1011Val) | |
| 18 | g.23535501G>T | CA401791182 | NPC1 | c.3445C>A (p.Leu1149Met) c.200C>A n.200C>A c.2523C>A c.122C>A c.3496C>A (p.Leu1166Met) c.3031C>A (p.Leu1011Met) | |
| 18 | g.23535502A= | CA2290163858 | NPC1 | c.3444T= (p.Ser1148=) c.199T= n.199T= c.2522T= c.121T= c.3495T= (p.Ser1165=) c.3030T= (p.Ser1010=) | |
| 18 | g.23535502A>C | CA8912776 | NPC1 | c.3444T>G (p.Ser1148Arg) c.199T>G n.199T>G c.2522T>G c.121T>G c.3495T>G (p.Ser1165Arg) c.3030T>G (p.Ser1010Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23535502A>G | CA503521666 | NPC1 | c.3444T>C (p.Ser1148=) c.199T>C n.199T>C c.2522T>C c.121T>C c.3495T>C (p.Ser1165=) c.3030T>C (p.Ser1010=) | |
| 18 | g.23535502A>T | CA401791183 | NPC1 | c.3444T>A (p.Ser1148Arg) c.199T>A n.199T>A c.2522T>A c.121T>A c.3495T>A (p.Ser1165Arg) c.3030T>A (p.Ser1010Arg) | |
| 18 | g.23535503C>A | CA401791184 | NPC1 | c.3443G>T (p.Ser1148Ile) c.198G>T n.198G>T c.2521G>T c.120G>T c.3494G>T (p.Ser1165Ile) c.3029G>T (p.Ser1010Ile) | |
| 18 | g.23535503C>G | CA401791185 | NPC1 | c.3443G>C (p.Ser1148Thr) c.198G>C n.198G>C c.2521G>C c.120G>C c.3494G>C (p.Ser1165Thr) c.3029G>C (p.Ser1010Thr) | |
| 18 | g.23535503C>T | CA401791186 | NPC1 | c.3443G>A (p.Ser1148Asn) c.198G>A n.198G>A c.2521G>A c.120G>A c.3494G>A (p.Ser1165Asn) c.3029G>A (p.Ser1010Asn) | |
| 18 | g.23535504T>A | CA401791189 | NPC1 | c.3442A>T (p.Ser1148Cys) c.197A>T n.197A>T c.2520A>T c.119A>T c.3493A>T (p.Ser1165Cys) c.3028A>T (p.Ser1010Cys) |