UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154863173G>A | CA414907653 | F8 | c.6484C>T (p.Pro2162Ser) c.217C>T (p.Pro73Ser) c.79C>T (p.Pro27Ser) c.6379C>T (p.Pro2127Ser) | |
| X | g.154863173G>C | CA414907657 | F8 | c.6484C>G (p.Pro2162Ala) c.217C>G (p.Pro73Ala) c.79C>G (p.Pro27Ala) c.6379C>G (p.Pro2127Ala) | |
| X | g.154863173G>T | CA414907664 | F8 | c.6484C>A (p.Pro2162Thr) c.217C>A (p.Pro73Thr) c.79C>A (p.Pro27Thr) c.6379C>A (p.Pro2127Thr) | |
| X | g.154863174del | CA2579752264 | F8 | c.6483del (p.Pro2162GlnfsTer24) c.216del (p.Pro73GlnfsTer24) c.78del (p.Pro27GlnfsTer24) c.6378del (p.Pro2127GlnfsTer24) | |
| X | g.154863174A= | CA2466815661 | F8 | c.6483T= (p.Pro2161=) c.216T= (p.Pro72=) c.78T= (p.Pro26=) c.6378T= (p.Pro2126=) | |
| X | g.154863174A>C | CA519357943 | F8 | c.6483T>G (p.Pro2161=) c.216T>G (p.Pro72=) c.78T>G (p.Pro26=) c.6378T>G (p.Pro2126=) | |
| X | g.154863174A>G | CA519357944 | F8 | c.6483T>C (p.Pro2161=) c.216T>C (p.Pro72=) c.78T>C (p.Pro26=) c.6378T>C (p.Pro2126=) | |
| X | g.154863174A>T | CA519357945 | F8 | c.6483T>A (p.Pro2161=) c.216T>A (p.Pro72=) c.78T>A (p.Pro26=) c.6378T>A (p.Pro2126=) | ClinVar dbSNP gnomAD v4 |
| X | g.154863175G>A | CA414907667 | F8 | c.6482C>T (p.Pro2161Leu) c.215C>T (p.Pro72Leu) c.77C>T (p.Pro26Leu) c.6377C>T (p.Pro2126Leu) | dbSNP gnomAD v4 |
| X | g.154863175G>C | CA414907669 | F8 | c.6482C>G (p.Pro2161Arg) c.215C>G (p.Pro72Arg) c.77C>G (p.Pro26Arg) c.6377C>G (p.Pro2126Arg) | |
| X | g.154863175G= | CA2466815662 | F8 | c.6482C= (p.Pro2161=) c.215C= (p.Pro72=) c.77C= (p.Pro26=) c.6377C= (p.Pro2126=) | |
| X | g.154863175G>T | CA414907672 | F8 | c.6482C>A (p.Pro2161His) c.215C>A (p.Pro72His) c.77C>A (p.Pro26His) c.6377C>A (p.Pro2126His) | |
| X | g.154863177del | CA2695237175 | F8 | c.6482del (p.Pro2161LeufsTer25) c.215del (p.Pro72LeufsTer25) c.77del (p.Pro26LeufsTer25) c.6377del (p.Pro2126LeufsTer25) | |
| X | g.154863176G>A | CA414907682 | F8 | c.6481C>T (p.Pro2161Ser) c.214C>T (p.Pro72Ser) c.76C>T (p.Pro26Ser) c.6376C>T (p.Pro2126Ser) | |
| X | g.154863176G>C | CA414907686 | F8 | c.6481C>G (p.Pro2161Ala) c.214C>G (p.Pro72Ala) c.76C>G (p.Pro26Ala) c.6376C>G (p.Pro2126Ala) | |
| X | g.154863176G>T | CA414907678 | F8 | c.6481C>A (p.Pro2161Thr) c.214C>A (p.Pro72Thr) c.76C>A (p.Pro26Thr) c.6376C>A (p.Pro2126Thr) | |
| X | g.154863177G>A | CA519357947 | F8 | c.6480C>T (p.Asn2160=) c.213C>T (p.Asn71=) c.75C>T (p.Asn25=) c.6375C>T (p.Asn2125=) | gnomAD v4 |
| X | g.154863177G>C | CA414907701 | F8 | c.6480C>G (p.Asn2160Lys) c.213C>G (p.Asn71Lys) c.75C>G (p.Asn25Lys) c.6375C>G (p.Asn2125Lys) | |
| X | g.154863177G>T | CA414907691 | F8 | c.6480C>A (p.Asn2160Lys) c.213C>A (p.Asn71Lys) c.75C>A (p.Asn25Lys) c.6375C>A (p.Asn2125Lys) | |
| X | g.154863178T>A | CA414907705 | F8 | c.6479A>T (p.Asn2160Ile) c.212A>T (p.Asn71Ile) c.74A>T (p.Asn25Ile) c.6374A>T (p.Asn2125Ile) | |
| X | g.154863178T>C | CA414907703 | F8 | c.6479A>G (p.Asn2160Ser) c.212A>G (p.Asn71Ser) c.74A>G (p.Asn25Ser) c.6374A>G (p.Asn2125Ser) | |
| X | g.154863178T>G | CA414907704 | F8 | c.6479A>C (p.Asn2160Thr) c.212A>C (p.Asn71Thr) c.74A>C (p.Asn25Thr) c.6374A>C (p.Asn2125Thr) | |
| X | g.154863179T>A | CA414907706 | F8 | c.6478A>T (p.Asn2160Tyr) c.211A>T (p.Asn71Tyr) c.73A>T (p.Asn25Tyr) c.6373A>T (p.Asn2125Tyr) | |
| X | g.154863179T>C | CA414907708 | F8 | c.6478A>G (p.Asn2160Asp) c.211A>G (p.Asn71Asp) c.73A>G (p.Asn25Asp) c.6373A>G (p.Asn2125Asp) | |
| X | g.154863179T>G | CA414907711 | F8 | c.6478A>C (p.Asn2160His) c.211A>C (p.Asn71His) c.73A>C (p.Asn25His) c.6373A>C (p.Asn2125His) | |
| X | g.154863180A>C | CA414907716 | F8 | c.6477T>G (p.Phe2159Leu) c.210T>G (p.Phe70Leu) c.72T>G (p.Phe24Leu) c.6372T>G (p.Phe2124Leu) | |
| X | g.154863180A>G | CA519357954 | F8 | c.6477T>C (p.Phe2159=) c.210T>C (p.Phe70=) c.72T>C (p.Phe24=) c.6372T>C (p.Phe2124=) | |
| X | g.154863180A>T | CA414907720 | F8 | c.6477T>A (p.Phe2159Leu) c.210T>A (p.Phe70Leu) c.72T>A (p.Phe24Leu) c.6372T>A (p.Phe2124Leu) | |
| X | g.154863184del | CA2695237176 | F8 | c.6477del (p.Phe2159LeufsTer27) c.210del (p.Phe70LeufsTer27) c.72del (p.Phe24LeufsTer27) c.6372del (p.Phe2124LeufsTer27) | |
| X | g.154863181A>C | CA414907731 | F8 | c.6476T>G (p.Phe2159Cys) c.209T>G (p.Phe70Cys) c.71T>G (p.Phe24Cys) c.6371T>G (p.Phe2124Cys) | COSMIC COSMIC |
| X | g.154863181A>G | CA414907732 | F8 | c.6476T>C (p.Phe2159Ser) c.209T>C (p.Phe70Ser) c.71T>C (p.Phe24Ser) c.6371T>C (p.Phe2124Ser) | |
| X | g.154863181A>T | CA414907737 | F8 | c.6476T>A (p.Phe2159Tyr) c.209T>A (p.Phe70Tyr) c.71T>A (p.Phe24Tyr) c.6371T>A (p.Phe2124Tyr) | |
| X | g.154863182A>C | CA414907745 | F8 | c.6475T>G (p.Phe2159Val) c.208T>G (p.Phe70Val) c.70T>G (p.Phe24Val) c.6370T>G (p.Phe2124Val) | gnomAD v4 |
| X | g.154863182A>G | CA414907741 | F8 | c.6475T>C (p.Phe2159Leu) c.208T>C (p.Phe70Leu) c.70T>C (p.Phe24Leu) c.6370T>C (p.Phe2124Leu) | |
| X | g.154863182A>T | CA414907742 | F8 | c.6475T>A (p.Phe2159Ile) c.208T>A (p.Phe70Ile) c.70T>A (p.Phe24Ile) c.6370T>A (p.Phe2124Ile) | |
| X | g.154863183A>C | CA414907749 | F8 | c.6474T>G (p.Ile2158Met) c.207T>G (p.Ile69Met) c.69T>G (p.Ile23Met) c.6369T>G (p.Ile2123Met) | |
| X | g.154863183A>G | CA519357960 | F8 | c.6474T>C (p.Ile2158=) c.207T>C (p.Ile69=) c.69T>C (p.Ile23=) c.6369T>C (p.Ile2123=) | |
| X | g.154863183A>T | CA519357961 | F8 | c.6474T>A (p.Ile2158=) c.207T>A (p.Ile69=) c.69T>A (p.Ile23=) c.6369T>A (p.Ile2123=) | |
| X | g.154863184A>C | CA414907757 | F8 | c.6473T>G (p.Ile2158Ser) c.206T>G (p.Ile69Ser) c.68T>G (p.Ile23Ser) c.6368T>G (p.Ile2123Ser) | |
| X | g.154863184A>G | CA414907766 | F8 | c.6473T>C (p.Ile2158Thr) c.206T>C (p.Ile69Thr) c.68T>C (p.Ile23Thr) c.6368T>C (p.Ile2123Thr) | |
| X | g.154863184A>T | CA414907770 | F8 | c.6473T>A (p.Ile2158Asn) c.206T>A (p.Ile69Asn) c.68T>A (p.Ile23Asn) c.6368T>A (p.Ile2123Asn) | |
| X | g.154863184_154863185insAAAAAT | CA2695237177 | F8 | c.6472_6473insATTTTT (p.Ile2158delinsAsnPhePhe) c.205_206insATTTTT (p.Ile69delinsAsnPhePhe) c.67_68insATTTTT (p.Ile23delinsAsnPhePhe) c.6367_6368insATTTTT (p.Ile2123delinsAsnPhePhe) | |
| X | g.154863185T>A | CA414907774 | F8 | c.6472A>T (p.Ile2158Phe) c.205A>T (p.Ile69Phe) c.67A>T (p.Ile23Phe) c.6367A>T (p.Ile2123Phe) | |
| X | g.154863185T>C | CA10567802 | F8 | c.6472A>G (p.Ile2158Val) c.205A>G (p.Ile69Val) c.67A>G (p.Ile23Val) c.6367A>G (p.Ile2123Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863185T>G | CA414907785 | F8 | c.6472A>C (p.Ile2158Leu) c.205A>C (p.Ile69Leu) c.67A>C (p.Ile23Leu) c.6367A>C (p.Ile2123Leu) | |
| X | g.154863185T= | CA2466815663 | F8 | c.6472A= (p.Ile2158=) c.205A= (p.Ile69=) c.67A= (p.Ile23=) c.6367A= (p.Ile2123=) | |
| X | g.154863186A= | CA2466815665 | F8 | c.6471T= (p.Asn2157=) c.204T= (p.Asn68=) c.66T= (p.Asn22=) c.6366T= (p.Asn2122=) | |
| X | g.154863186A>C | CA414907790 | F8 | c.6471T>G (p.Asn2157Lys) c.204T>G (p.Asn68Lys) c.66T>G (p.Asn22Lys) c.6366T>G (p.Asn2122Lys) | |
| X | g.154863186A>G | CA10567803 | F8 | c.6471T>C (p.Asn2157=) c.204T>C (p.Asn68=) c.66T>C (p.Asn22=) c.6366T>C (p.Asn2122=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863186A>T | CA414907793 | F8 | c.6471T>A (p.Asn2157Lys) c.204T>A (p.Asn68Lys) c.66T>A (p.Asn22Lys) c.6366T>A (p.Asn2122Lys) |