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.154956980A= | CA2466845309 | F8 | c.1729T= (p.Ser577=) c.*1605T= (n.*1605T=) c.1624T= (p.Ser542=) | |
| X | g.154956980A>C | CA414911650 | F8 | c.1729T>G (p.Ser577Ala) c.*1605T>G (n.*1605T>G) c.1624T>G (p.Ser542Ala) | |
| X | g.154956980A>G | CA255122 | F8 | c.1729T>C (p.Ser577Pro) c.*1605T>C (n.*1605T>C) c.1624T>C (p.Ser542Pro) | ClinVar dbSNP |
| X | g.154956980A>T | CA414911651 | F8 | c.1729T>A (p.Ser577Thr) c.*1605T>A (n.*1605T>A) c.1624T>A (p.Ser542Thr) | |
| X | g.154956981T>A | CA414911652 | F8 | c.1728A>T (p.Glu576Asp) c.*1604A>T (n.*1604A>T) c.1623A>T (p.Glu541Asp) | |
| X | g.154956981T>C | CA519358288 | F8 | c.1728A>G (p.Glu576=) c.*1604A>G (n.*1604A>G) c.1623A>G (p.Glu541=) | |
| X | g.154956981T>G | CA414911653 | F8 | c.1728A>C (p.Glu576Asp) c.*1604A>C (n.*1604A>C) c.1623A>C (p.Glu541Asp) | |
| X | g.154956982T>A | CA414911654 | F8 | c.1727A>T (p.Glu576Val) c.*1603A>T (n.*1603A>T) c.1622A>T (p.Glu541Val) | ClinVar |
| X | g.154956982T>C | CA414911655 | F8 | c.1727A>G (p.Glu576Gly) c.*1603A>G (n.*1603A>G) c.1622A>G (p.Glu541Gly) | |
| X | g.154956982T>G | CA414911656 | F8 | c.1727A>C (p.Glu576Ala) c.*1603A>C (n.*1603A>C) c.1622A>C (p.Glu541Ala) | |
| X | g.154956983C>A | CA255118 | F8 | c.1726G>T (p.Glu576Ter) c.*1602G>T (n.*1602G>T) c.1621G>T (p.Glu541Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154956983C= | CA2466845310 | F8 | c.1726G= (p.Glu576=) c.*1602G= (n.*1602G=) c.1621G= (p.Glu541=) | |
| X | g.154956983C>G | CA414911657 | F8 | c.1726G>C (p.Glu576Gln) c.*1602G>C (n.*1602G>C) c.1621G>C (p.Glu541Gln) | |
| X | g.154956983C>T | CA414911658 | F8 | c.1726G>A (p.Glu576Lys) c.*1602G>A (n.*1602G>A) c.1621G>A (p.Glu541Lys) | |
| X | g.154956984T>A | CA414911659 | F8 | c.1725A>T (p.Lys575Asn) c.*1601A>T (n.*1601A>T) c.1620A>T (p.Lys540Asn) | |
| X | g.154956984T>C | CA519358300 | F8 | c.1725A>G (p.Lys575=) c.*1601A>G (n.*1601A>G) c.1620A>G (p.Lys540=) | |
| X | g.154956984T>G | CA414911660 | F8 | c.1725A>C (p.Lys575Asn) c.*1601A>C (n.*1601A>C) c.1620A>C (p.Lys540Asn) | |
| X | g.154956985T>A | CA414911661 | F8 | c.1724A>T (p.Lys575Ile) c.*1600A>T (n.*1600A>T) c.1619A>T (p.Lys540Ile) | |
| X | g.154956985T>C | CA414911662 | F8 | c.1724A>G (p.Lys575Arg) c.*1600A>G (n.*1600A>G) c.1619A>G (p.Lys540Arg) | gnomAD v4 |
| X | g.154956985T>G | CA414911663 | F8 | c.1724A>C (p.Lys575Thr) c.*1600A>C (n.*1600A>C) c.1619A>C (p.Lys540Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.154956985T= | CA2466845311 | F8 | c.1724A= (p.Lys575=) c.*1600A= (n.*1600A=) c.1619A= (p.Lys540=) | |
| X | g.154956986T>A | CA414911664 | F8 | c.1723A>T (p.Lys575Ter) c.*1599A>T (n.*1599A>T) c.1618A>T (p.Lys540Ter) | |
| X | g.154956986T>C | CA414911665 | F8 | c.1723A>G (p.Lys575Glu) c.*1599A>G (n.*1599A>G) c.1618A>G (p.Lys540Glu) | |
| X | g.154956986T>G | CA414911666 | F8 | c.1723A>C (p.Lys575Gln) c.*1599A>C (n.*1599A>C) c.1618A>C (p.Lys540Gln) | |
| X | g.154956987G>A | CA519358310 | F8 | c.1722C>T (p.Tyr574=) c.*1598C>T (n.*1598C>T) c.1617C>T (p.Tyr539=) | |
| X | g.154956987G>C | CA414911667 | F8 | c.1722C>G (p.Tyr574Ter) c.*1598C>G (n.*1598C>G) c.1617C>G (p.Tyr539Ter) | |
| X | g.154956987G>T | CA414911668 | F8 | c.1722C>A (p.Tyr574Ter) c.*1598C>A (n.*1598C>A) c.1617C>A (p.Tyr539Ter) | |
| X | g.154956988T>A | CA414911669 | F8 | c.1721A>T (p.Tyr574Phe) c.*1597A>T (n.*1597A>T) c.1616A>T (p.Tyr539Phe) | dbSNP |
| X | g.154956988T>C | CA414911670 | F8 | c.1721A>G (p.Tyr574Cys) c.*1597A>G (n.*1597A>G) c.1616A>G (p.Tyr539Cys) | dbSNP gnomAD v4 |
| X | g.154956988T>G | CA414911671 | F8 | c.1721A>C (p.Tyr574Ser) c.*1597A>C (n.*1597A>C) c.1616A>C (p.Tyr539Ser) | |
| X | g.154956988T= | CA2466845312 | F8 | c.1721A= (p.Tyr574=) c.*1597A= (n.*1597A=) c.1616A= (p.Tyr539=) | |
| X | g.154956989A= | CA2466845313 | F8 | c.1720T= (p.Tyr574=) c.*1596T= (n.*1596T=) c.1615T= (p.Tyr539=) | |
| X | g.154956989A>C | CA414911672 | F8 | c.1720T>G (p.Tyr574Asp) c.*1596T>G (n.*1596T>G) c.1615T>G (p.Tyr539Asp) | |
| X | g.154956989A>G | CA414911674 | F8 | c.1720T>C (p.Tyr574His) c.*1596T>C (n.*1596T>C) c.1615T>C (p.Tyr539His) | dbSNP gnomAD v4 |
| X | g.154956989A>T | CA414911673 | F8 | c.1720T>A (p.Tyr574Asn) c.*1596T>A (n.*1596T>A) c.1615T>A (p.Tyr539Asn) | |
| X | g.154956990G>A | CA519358321 | F8 | c.1719C>T (p.Cys573=) c.*1595C>T (n.*1595C>T) c.1614C>T (p.Cys538=) | |
| X | g.154956990G>C | CA414911675 | F8 | c.1719C>G (p.Cys573Trp) c.*1595C>G (n.*1595C>G) c.1614C>G (p.Cys538Trp) | |
| X | g.154956990G>T | CA414911676 | F8 | c.1719C>A (p.Cys573Ter) c.*1595C>A (n.*1595C>A) c.1614C>A (p.Cys538Ter) | |
| X | g.154956991C>A | CA414911677 | F8 | c.1718G>T (p.Cys573Phe) c.*1594G>T (n.*1594G>T) c.1613G>T (p.Cys538Phe) | COSMIC COSMIC |
| X | g.154956991C= | CA2466845314 | F8 | c.1718G= (p.Cys573=) c.*1594G= (n.*1594G=) c.1613G= (p.Cys538=) | |
| X | g.154956991C>G | CA414911678 | F8 | c.1718G>C (p.Cys573Ser) c.*1594G>C (n.*1594G>C) c.1613G>C (p.Cys538Ser) | |
| X | g.154956991C>T | CA10568417 | F8 | c.1718G>A (p.Cys573Tyr) c.*1594G>A (n.*1594G>A) c.1613G>A (p.Cys538Tyr) | dbSNP ExAC |
| X | g.154956992A= | CA2466845315 | F8 | c.1717T= (p.Cys573=) c.*1593T= (n.*1593T=) c.1612T= (p.Cys538=) | |
| X | g.154956992A>C | CA414911679 | F8 | c.1717T>G (p.Cys573Gly) c.*1593T>G (n.*1593T>G) c.1612T>G (p.Cys538Gly) | |
| X | g.154956992A>G | CA414911680 | F8 | c.1717T>C (p.Cys573Arg) c.*1593T>C (n.*1593T>C) c.1612T>C (p.Cys538Arg) | dbSNP |
| X | g.154956992A>T | CA414911681 | F8 | c.1717T>A (p.Cys573Ser) c.*1593T>A (n.*1593T>A) c.1612T>A (p.Cys538Ser) | |
| X | g.154956993G>A | CA519358330 | F8 | c.1716C>T (p.Ile572=) c.*1592C>T (n.*1592C>T) c.1611C>T (p.Ile537=) | |
| X | g.154956993G>C | CA414911682 | F8 | c.1716C>G (p.Ile572Met) c.*1592C>G (n.*1592C>G) c.1611C>G (p.Ile537Met) | |
| X | g.154956993G>T | CA519358332 | F8 | c.1716C>A (p.Ile572=) c.*1592C>A (n.*1592C>A) c.1611C>A (p.Ile537=) | |
| X | g.154956994del | CA2695237253 | F8 | c.1715del (p.Ile572ThrfsTer7) c.*1591del (n.*1591del) c.1610del (p.Ile537ThrfsTer7) |