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.154863167T>A | CA414907613 | F8 | c.6490A>T (p.Ile2164Phe) c.223A>T (p.Ile75Phe) c.85A>T (p.Ile29Phe) c.6385A>T (p.Ile2129Phe) | |
| X | g.154863167T>C | CA414907615 | F8 | c.6490A>G (p.Ile2164Val) c.223A>G (p.Ile75Val) c.85A>G (p.Ile29Val) c.6385A>G (p.Ile2129Val) | COSMIC COSMIC |
| X | g.154863167T>G | CA414907622 | F8 | c.6490A>C (p.Ile2164Leu) c.223A>C (p.Ile75Leu) c.85A>C (p.Ile29Leu) c.6385A>C (p.Ile2129Leu) | |
| X | g.154863167T= | CA2466815658 | F8 | c.6490A= (p.Ile2164=) c.223A= (p.Ile75=) c.85A= (p.Ile29=) c.6385A= (p.Ile2129=) | |
| X | g.154863168A>C | CA414907626 | F8 | c.6489T>G (p.Ile2163Met) c.222T>G (p.Ile74Met) c.84T>G (p.Ile28Met) c.6384T>G (p.Ile2128Met) | |
| X | g.154863168A>G | CA519357921 | F8 | c.6489T>C (p.Ile2163=) c.222T>C (p.Ile74=) c.84T>C (p.Ile28=) c.6384T>C (p.Ile2128=) | |
| X | g.154863168A>T | CA519357922 | F8 | c.6489T>A (p.Ile2163=) c.222T>A (p.Ile74=) c.84T>A (p.Ile28=) c.6384T>A (p.Ile2128=) | |
| X | g.154863168_154863169dup | CA2466815659 | F8 | c.6488_6489dup (p.Ile2164LeufsTer23) c.221_222dup (p.Ile75LeufsTer23) c.83_84dup (p.Ile29LeufsTer23) c.6383_6384dup (p.Ile2129LeufsTer23) | dbSNP |
| X | g.154863169del | CA2695237173 | F8 | c.6489del (p.Ile2164LeufsTer22) c.222del (p.Ile75LeufsTer22) c.84del (p.Ile29LeufsTer22) c.6384del (p.Ile2129LeufsTer22) | |
| X | g.154863169A>C | CA414907631 | F8 | c.6488T>G (p.Ile2163Ser) c.221T>G (p.Ile74Ser) c.83T>G (p.Ile28Ser) c.6383T>G (p.Ile2128Ser) | |
| X | g.154863169A>G | CA414907630 | F8 | c.6488T>C (p.Ile2163Thr) c.221T>C (p.Ile74Thr) c.83T>C (p.Ile28Thr) c.6383T>C (p.Ile2128Thr) | |
| X | g.154863169A>T | CA414907629 | F8 | c.6488T>A (p.Ile2163Asn) c.221T>A (p.Ile74Asn) c.83T>A (p.Ile28Asn) c.6383T>A (p.Ile2128Asn) | |
| X | g.154863170T>A | CA414907633 | F8 | c.6487A>T (p.Ile2163Phe) c.220A>T (p.Ile74Phe) c.82A>T (p.Ile28Phe) c.6382A>T (p.Ile2128Phe) | |
| X | g.154863170T>C | CA414907636 | F8 | c.6487A>G (p.Ile2163Val) c.220A>G (p.Ile74Val) c.82A>G (p.Ile28Val) c.6382A>G (p.Ile2128Val) | gnomAD v4 |
| X | g.154863170T>G | CA414907637 | F8 | c.6487A>C (p.Ile2163Leu) c.220A>C (p.Ile74Leu) c.82A>C (p.Ile28Leu) c.6382A>C (p.Ile2128Leu) | |
| X | g.154863171T>A | CA519357931 | F8 | c.6486A>T (p.Pro2162=) c.219A>T (p.Pro73=) c.81A>T (p.Pro27=) c.6381A>T (p.Pro2127=) | |
| X | g.154863171T>C | CA519357935 | F8 | c.6486A>G (p.Pro2162=) c.219A>G (p.Pro73=) c.81A>G (p.Pro27=) c.6381A>G (p.Pro2127=) | |
| X | g.154863171T>G | CA519357940 | F8 | c.6486A>C (p.Pro2162=) c.219A>C (p.Pro73=) c.81A>C (p.Pro27=) c.6381A>C (p.Pro2127=) | |
| X | g.154863171_154863172delinsACATC | CA2695237174 | F8 | c.6485_6486delinsGATGT (p.Pro2162delinsArgCys) c.218_219delinsGATGT (p.Pro73delinsArgCys) c.80_81delinsGATGT (p.Pro27delinsArgCys) c.6380_6381delinsGATGT (p.Pro2127delinsArgCys) | |
| X | g.154863172G>A | CA414907641 | F8 | c.6485C>T (p.Pro2162Leu) c.218C>T (p.Pro73Leu) c.80C>T (p.Pro27Leu) c.6380C>T (p.Pro2127Leu) | ClinVar dbSNP |
| X | g.154863172G>C | CA414907642 | F8 | c.6485C>G (p.Pro2162Arg) c.218C>G (p.Pro73Arg) c.80C>G (p.Pro27Arg) c.6380C>G (p.Pro2127Arg) | |
| X | g.154863172G= | CA2466815660 | F8 | c.6485C= (p.Pro2162=) c.218C= (p.Pro73=) c.80C= (p.Pro27=) c.6380C= (p.Pro2127=) | |
| X | g.154863172G>T | CA414907646 | F8 | c.6485C>A (p.Pro2162Gln) c.218C>A (p.Pro73Gln) c.80C>A (p.Pro27Gln) c.6380C>A (p.Pro2127Gln) | gnomAD v4 |
| 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=) |