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 |
|---|---|---|---|---|---|
| 11 | g.67490343C>A | CA381551543 | AIP | c.650C>A c.484C>A (p.Gln162Lys) n.1185C>A c.469-654C>A (n.469-654C>A) c.304C>A (p.Gln102Lys) c.673C>A (p.Gln225Lys) c.496C>A (p.Gln166Lys) c.493C>A (p.Gln165Lys) c.325C>A (p.Gln109Lys) | |
| 11 | g.67490343C>G | CA381551542 | AIP | c.650C>G c.484C>G (p.Gln162Glu) n.1185C>G c.469-654C>G (n.469-654C>G) c.304C>G (p.Gln102Glu) c.673C>G (p.Gln225Glu) c.496C>G (p.Gln166Glu) c.493C>G (p.Gln165Glu) c.325C>G (p.Gln109Glu) | |
| 11 | g.67490343C>T | CA381551540 | AIP | c.650C>T c.484C>T (p.Gln162Ter) n.1185C>T c.469-654C>T (n.469-654C>T) c.304C>T (p.Gln102Ter) c.673C>T (p.Gln225Ter) c.496C>T (p.Gln166Ter) c.493C>T (p.Gln165Ter) c.325C>T (p.Gln109Ter) | ClinVar dbSNP |
| 11 | g.67490344A>C | CA381551545 | AIP | c.651A>C c.485A>C (p.Gln162Pro) n.1186A>C c.469-653A>C (n.469-653A>C) c.305A>C (p.Gln102Pro) c.674A>C (p.Gln225Pro) c.497A>C (p.Gln166Pro) c.494A>C (p.Gln165Pro) c.326A>C (p.Gln109Pro) | |
| 11 | g.67490344A>G | CA381551547 | AIP | c.651A>G c.485A>G (p.Gln162Arg) n.1186A>G c.469-653A>G (n.469-653A>G) c.305A>G (p.Gln102Arg) c.674A>G (p.Gln225Arg) c.497A>G (p.Gln166Arg) c.494A>G (p.Gln165Arg) c.326A>G (p.Gln109Arg) | |
| 11 | g.67490344A>T | CA381551548 | AIP | c.651A>T c.485A>T (p.Gln162Leu) n.1186A>T c.469-653A>T (n.469-653A>T) c.305A>T (p.Gln102Leu) c.674A>T (p.Gln225Leu) c.497A>T (p.Gln166Leu) c.494A>T (p.Gln165Leu) c.326A>T (p.Gln109Leu) | |
| 11 | g.67490345G>A | CA6140907 | AIP | c.652G>A c.486G>A (p.Gln162=) n.1187G>A c.469-652G>A (n.469-652G>A) c.306G>A (p.Gln102=) c.675G>A (p.Gln225=) c.498G>A (p.Gln166=) c.495G>A (p.Gln165=) c.327G>A (p.Gln109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490345G>C | CA381551550 | AIP | c.652G>C c.486G>C (p.Gln162His) n.1187G>C c.469-652G>C (n.469-652G>C) c.306G>C (p.Gln102His) c.675G>C (p.Gln225His) c.498G>C (p.Gln166His) c.495G>C (p.Gln165His) c.327G>C (p.Gln109His) | |
| 11 | g.67490345G= | CA1980172414 | AIP | c.652G= c.486G= (p.Gln162=) n.1187G= c.469-652G= (n.469-652G=) c.306G= (p.Gln102=) c.675G= (p.Gln225=) c.498G= (p.Gln166=) c.495G= (p.Gln165=) c.327G= (p.Gln109=) | |
| 11 | g.67490345G>T | CA381551551 | AIP | c.652G>T c.486G>T (p.Gln162His) n.1187G>T c.469-652G>T (n.469-652G>T) c.306G>T (p.Gln102His) c.675G>T (p.Gln225His) c.498G>T (p.Gln166His) c.495G>T (p.Gln165His) c.327G>T (p.Gln109His) | gnomAD v4 |
| 11 | g.67490346C>A | CA381551553 | AIP | c.653C>A c.487C>A (p.Leu163Met) n.1188C>A c.469-651C>A (n.469-651C>A) c.307C>A (p.Leu103Met) c.676C>A (p.Leu226Met) c.499C>A (p.Leu167Met) c.496C>A (p.Leu166Met) c.328C>A (p.Leu110Met) | |
| 11 | g.67490346C= | CA1980172415 | AIP | c.653C= c.487C= (p.Leu163=) n.1188C= c.469-651C= (n.469-651C=) c.307C= (p.Leu103=) c.676C= (p.Leu226=) c.499C= (p.Leu167=) c.496C= (p.Leu166=) c.328C= (p.Leu110=) | |
| 11 | g.67490346C>G | CA6140908 | AIP | c.653C>G c.487C>G (p.Leu163Val) n.1188C>G c.469-651C>G (n.469-651C>G) c.307C>G (p.Leu103Val) c.676C>G (p.Leu226Val) c.499C>G (p.Leu167Val) c.496C>G (p.Leu166Val) c.328C>G (p.Leu110Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490346C>T | CA475509203 | AIP | c.653C>T c.487C>T (p.Leu163=) n.1188C>T c.469-651C>T (n.469-651C>T) c.307C>T (p.Leu103=) c.676C>T (p.Leu226=) c.499C>T (p.Leu167=) c.496C>T (p.Leu166=) c.328C>T (p.Leu110=) | gnomAD v4 |
| 11 | g.67490347T>A | CA381551555 | AIP | c.654T>A c.488T>A (p.Leu163Gln) n.1189T>A c.469-650T>A (n.469-650T>A) c.308T>A (p.Leu103Gln) c.677T>A (p.Leu226Gln) c.500T>A (p.Leu167Gln) c.497T>A (p.Leu166Gln) c.329T>A (p.Leu110Gln) | |
| 11 | g.67490347T>C | CA381551558 | AIP | c.654T>C c.488T>C (p.Leu163Pro) n.1189T>C c.469-650T>C (n.469-650T>C) c.308T>C (p.Leu103Pro) c.677T>C (p.Leu226Pro) c.500T>C (p.Leu167Pro) c.497T>C (p.Leu166Pro) c.329T>C (p.Leu110Pro) | |
| 11 | g.67490347T>G | CA381551560 | AIP | c.654T>G c.488T>G (p.Leu163Arg) n.1189T>G c.469-650T>G (n.469-650T>G) c.308T>G (p.Leu103Arg) c.677T>G (p.Leu226Arg) c.500T>G (p.Leu167Arg) c.497T>G (p.Leu166Arg) c.329T>G (p.Leu110Arg) | |
| 11 | g.67490348G>A | CA475509205 | AIP | c.655G>A c.489G>A (p.Leu163=) n.1190G>A c.469-649G>A (n.469-649G>A) c.309G>A (p.Leu103=) c.678G>A (p.Leu226=) c.501G>A (p.Leu167=) c.498G>A (p.Leu166=) c.330G>A (p.Leu110=) | |
| 11 | g.67490348G>C | CA475509206 | AIP | c.655G>C c.489G>C (p.Leu163=) n.1190G>C c.469-649G>C (n.469-649G>C) c.309G>C (p.Leu103=) c.678G>C (p.Leu226=) c.501G>C (p.Leu167=) c.498G>C (p.Leu166=) c.330G>C (p.Leu110=) | |
| 11 | g.67490348G>T | CA475509207 | AIP | c.655G>T c.489G>T (p.Leu163=) n.1190G>T c.469-649G>T (n.469-649G>T) c.309G>T (p.Leu103=) c.678G>T (p.Leu226=) c.501G>T (p.Leu167=) c.498G>T (p.Leu166=) c.330G>T (p.Leu110=) | gnomAD v4 |
| 11 | g.67490349G>A | CA381551563 | AIP | c.656G>A c.490G>A (p.Asp164Asn) n.1191G>A c.469-648G>A (n.469-648G>A) c.310G>A (p.Asp104Asn) c.679G>A (p.Asp227Asn) c.502G>A (p.Asp168Asn) c.499G>A (p.Asp167Asn) c.331G>A (p.Asp111Asn) | |
| 11 | g.67490349G>C | CA381551565 | AIP | c.656G>C c.490G>C (p.Asp164His) n.1191G>C c.469-648G>C (n.469-648G>C) c.310G>C (p.Asp104His) c.679G>C (p.Asp227His) c.502G>C (p.Asp168His) c.499G>C (p.Asp167His) c.331G>C (p.Asp111His) | |
| 11 | g.67490349G>T | CA381551567 | AIP | c.656G>T c.490G>T (p.Asp164Tyr) n.1191G>T c.469-648G>T (n.469-648G>T) c.310G>T (p.Asp104Tyr) c.679G>T (p.Asp227Tyr) c.502G>T (p.Asp168Tyr) c.499G>T (p.Asp167Tyr) c.331G>T (p.Asp111Tyr) | gnomAD v4 |
| 11 | g.67490350A>C | CA381551569 | AIP | c.657A>C c.491A>C (p.Asp164Ala) n.1192A>C c.469-647A>C (n.469-647A>C) c.311A>C (p.Asp104Ala) c.680A>C (p.Asp227Ala) c.503A>C (p.Asp168Ala) c.500A>C (p.Asp167Ala) c.332A>C (p.Asp111Ala) | |
| 11 | g.67490350A>G | CA381551572 | AIP | c.657A>G c.491A>G (p.Asp164Gly) n.1192A>G c.469-647A>G (n.469-647A>G) c.311A>G (p.Asp104Gly) c.680A>G (p.Asp227Gly) c.503A>G (p.Asp168Gly) c.500A>G (p.Asp167Gly) c.332A>G (p.Asp111Gly) | |
| 11 | g.67490350A>T | CA381551571 | AIP | c.657A>T c.491A>T (p.Asp164Val) n.1192A>T c.469-647A>T (n.469-647A>T) c.311A>T (p.Asp104Val) c.680A>T (p.Asp227Val) c.503A>T (p.Asp168Val) c.500A>T (p.Asp167Val) c.332A>T (p.Asp111Val) | gnomAD v4 |
| 11 | g.67490351C>A | CA381551577 | AIP | c.658C>A c.492C>A (p.Asp164Glu) n.1193C>A c.469-646C>A (n.469-646C>A) c.312C>A (p.Asp104Glu) c.681C>A (p.Asp227Glu) c.504C>A (p.Asp168Glu) c.501C>A (p.Asp167Glu) c.333C>A (p.Asp111Glu) | |
| 11 | g.67490351C>G | CA381551579 | AIP | c.658C>G c.492C>G (p.Asp164Glu) n.1193C>G c.469-646C>G (n.469-646C>G) c.312C>G (p.Asp104Glu) c.681C>G (p.Asp227Glu) c.504C>G (p.Asp168Glu) c.501C>G (p.Asp167Glu) c.333C>G (p.Asp111Glu) | |
| 11 | g.67490351C>T | CA475509208 | AIP | c.658C>T c.492C>T (p.Asp164=) n.1193C>T c.469-646C>T (n.469-646C>T) c.312C>T (p.Asp104=) c.681C>T (p.Asp227=) c.504C>T (p.Asp168=) c.501C>T (p.Asp167=) c.333C>T (p.Asp111=) | |
| 11 | g.67490352C>A | CA6140909 | AIP | c.659C>A c.493C>A (p.Gln165Lys) n.1194C>A c.469-645C>A (n.469-645C>A) c.313C>A (p.Gln105Lys) c.682C>A (p.Gln228Lys) c.505C>A (p.Gln169Lys) c.502C>A (p.Gln168Lys) c.334C>A (p.Gln112Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490352C= | CA1980172416 | AIP | c.659C= c.493C= (p.Gln165=) n.1194C= c.469-645C= (n.469-645C=) c.313C= (p.Gln105=) c.682C= (p.Gln228=) c.505C= (p.Gln169=) c.502C= (p.Gln168=) c.334C= (p.Gln112=) | |
| 11 | g.67490352C>G | CA381551580 | AIP | c.659C>G c.493C>G (p.Gln165Glu) n.1194C>G c.469-645C>G (n.469-645C>G) c.313C>G (p.Gln105Glu) c.682C>G (p.Gln228Glu) c.505C>G (p.Gln169Glu) c.502C>G (p.Gln168Glu) c.334C>G (p.Gln112Glu) | ClinVar |
| 11 | g.67490352C>T | CA381551581 | AIP | c.659C>T c.493C>T (p.Gln165Ter) n.1194C>T c.469-645C>T (n.469-645C>T) c.313C>T (p.Gln105Ter) c.682C>T (p.Gln228Ter) c.505C>T (p.Gln169Ter) c.502C>T (p.Gln168Ter) c.334C>T (p.Gln112Ter) | gnomAD v3 gnomAD v4 |
| 11 | g.67490352_67490354delinsAAA | CA2580084748 | AIP | c.659_661delinsAAA c.493_495delinsAAA (p.Gln165Lys) n.1194_1196delinsAAA c.469-645_469-643delinsAAA (n.469-645_469-643delinsAAA) c.313_315delinsAAA (p.Gln105Lys) c.682_684delinsAAA (p.Gln228Lys) c.505_507delinsAAA (p.Gln169Lys) c.502_504delinsAAA (p.Gln168Lys) c.334_336delinsAAA (p.Gln112Lys) | ClinVar |
| 11 | g.67490353A>C | CA381551583 | AIP | c.660A>C c.494A>C (p.Gln165Pro) n.1195A>C c.469-644A>C (n.469-644A>C) c.314A>C (p.Gln105Pro) c.683A>C (p.Gln228Pro) c.506A>C (p.Gln169Pro) c.503A>C (p.Gln168Pro) c.335A>C (p.Gln112Pro) | |
| 11 | g.67490353A>G | CA381551585 | AIP | c.660A>G c.494A>G (p.Gln165Arg) n.1195A>G c.469-644A>G (n.469-644A>G) c.314A>G (p.Gln105Arg) c.683A>G (p.Gln228Arg) c.506A>G (p.Gln169Arg) c.503A>G (p.Gln168Arg) c.335A>G (p.Gln112Arg) | |
| 11 | g.67490353A>T | CA381551586 | AIP | c.660A>T c.494A>T (p.Gln165Leu) n.1195A>T c.469-644A>T (n.469-644A>T) c.314A>T (p.Gln105Leu) c.683A>T (p.Gln228Leu) c.506A>T (p.Gln169Leu) c.503A>T (p.Gln168Leu) c.335A>T (p.Gln112Leu) | |
| 11 | g.67490354G>A | CA475509211 | AIP | c.661G>A c.495G>A (p.Gln165=) n.1196G>A c.469-643G>A (n.469-643G>A) c.315G>A (p.Gln105=) c.684G>A (p.Gln228=) c.507G>A (p.Gln169=) c.504G>A (p.Gln168=) c.336G>A (p.Gln112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490354G>C | CA381551589 | AIP | c.661G>C c.495G>C (p.Gln165His) n.1196G>C c.469-643G>C (n.469-643G>C) c.315G>C (p.Gln105His) c.684G>C (p.Gln228His) c.507G>C (p.Gln169His) c.504G>C (p.Gln168His) c.336G>C (p.Gln112His) | |
| 11 | g.67490354G= | CA1980172417 | AIP | c.661G= c.495G= (p.Gln165=) n.1196G= c.469-643G= (n.469-643G=) c.315G= (p.Gln105=) c.684G= (p.Gln228=) c.507G= (p.Gln169=) c.504G= (p.Gln168=) c.336G= (p.Gln112=) | |
| 11 | g.67490354G>T | CA381551592 | AIP | c.661G>T c.495G>T (p.Gln165His) n.1196G>T c.469-643G>T (n.469-643G>T) c.315G>T (p.Gln105His) c.684G>T (p.Gln228His) c.507G>T (p.Gln169His) c.504G>T (p.Gln168His) c.336G>T (p.Gln112His) | |
| 11 | g.67490355C>A | CA381551603 | AIP | c.662C>A c.496C>A (p.Gln166Lys) n.1197C>A c.469-642C>A (n.469-642C>A) c.316C>A (p.Gln106Lys) c.685C>A (p.Gln229Lys) c.508C>A (p.Gln170Lys) c.505C>A (p.Gln169Lys) c.337C>A (p.Gln113Lys) | |
| 11 | g.67490355C= | CA1980172418 | AIP | c.662C= c.496C= (p.Gln166=) n.1197C= c.469-642C= (n.469-642C=) c.316C= (p.Gln106=) c.685C= (p.Gln229=) c.508C= (p.Gln170=) c.505C= (p.Gln169=) c.337C= (p.Gln113=) | |
| 11 | g.67490355C>G | CA381551601 | AIP | c.662C>G c.496C>G (p.Gln166Glu) n.1197C>G c.469-642C>G (n.469-642C>G) c.316C>G (p.Gln106Glu) c.685C>G (p.Gln229Glu) c.508C>G (p.Gln170Glu) c.505C>G (p.Gln169Glu) c.337C>G (p.Gln113Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490355C>T | CA381551597 | AIP | c.662C>T c.496C>T (p.Gln166Ter) n.1197C>T c.469-642C>T (n.469-642C>T) c.316C>T (p.Gln106Ter) c.685C>T (p.Gln229Ter) c.508C>T (p.Gln170Ter) c.505C>T (p.Gln169Ter) c.337C>T (p.Gln113Ter) | ClinVar dbSNP |
| 11 | g.67490356A>C | CA381551605 | AIP | c.663A>C c.497A>C (p.Gln166Pro) n.1198A>C c.469-641A>C (n.469-641A>C) c.317A>C (p.Gln106Pro) c.686A>C (p.Gln229Pro) c.509A>C (p.Gln170Pro) c.506A>C (p.Gln169Pro) c.338A>C (p.Gln113Pro) | |
| 11 | g.67490356A>G | CA381551611 | AIP | c.663A>G c.497A>G (p.Gln166Arg) n.1198A>G c.469-641A>G (n.469-641A>G) c.317A>G (p.Gln106Arg) c.686A>G (p.Gln229Arg) c.509A>G (p.Gln170Arg) c.506A>G (p.Gln169Arg) c.338A>G (p.Gln113Arg) | |
| 11 | g.67490356A>T | CA381551608 | AIP | c.663A>T c.497A>T (p.Gln166Leu) n.1198A>T c.469-641A>T (n.469-641A>T) c.317A>T (p.Gln106Leu) c.686A>T (p.Gln229Leu) c.509A>T (p.Gln170Leu) c.506A>T (p.Gln169Leu) c.338A>T (p.Gln113Leu) | |
| 11 | g.67490357G>A | CA475509212 | AIP | c.664G>A c.498G>A (p.Gln166=) n.1199G>A c.469-640G>A (n.469-640G>A) c.318G>A (p.Gln106=) c.687G>A (p.Gln229=) c.510G>A (p.Gln170=) c.507G>A (p.Gln169=) c.339G>A (p.Gln113=) | |
| 11 | g.67490357G>C | CA381551614 | AIP | c.664G>C c.498G>C (p.Gln166His) n.1199G>C c.469-640G>C (n.469-640G>C) c.318G>C (p.Gln106His) c.687G>C (p.Gln229His) c.510G>C (p.Gln170His) c.507G>C (p.Gln169His) c.339G>C (p.Gln113His) |