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.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) | |
| X | g.154956994A>C | CA414911683 | F8 | c.1715T>G (p.Ile572Ser) c.*1591T>G (n.*1591T>G) c.1610T>G (p.Ile537Ser) | |
| X | g.154956994A>G | CA414911684 | F8 | c.1715T>C (p.Ile572Thr) c.*1591T>C (n.*1591T>C) c.1610T>C (p.Ile537Thr) | |
| X | g.154956994A>T | CA414911685 | F8 | c.1715T>A (p.Ile572Asn) c.*1591T>A (n.*1591T>A) c.1610T>A (p.Ile537Asn) | |
| X | g.154956995T>A | CA414911686 | F8 | c.1714A>T (p.Ile572Phe) c.*1590A>T (n.*1590A>T) c.1609A>T (p.Ile537Phe) | |
| X | g.154956995T>C | CA414911688 | F8 | c.1714A>G (p.Ile572Val) c.*1590A>G (n.*1590A>G) c.1609A>G (p.Ile537Val) | |
| X | g.154956995T>G | CA414911687 | F8 | c.1714A>C (p.Ile572Leu) c.*1590A>C (n.*1590A>C) c.1609A>C (p.Ile537Leu) | |
| X | g.154956995_154956998delinsTGAG | CA2466845316 | F8 | c.1711_1714delinsCTCA (p.Leu571=) c.*1587_*1590delinsCTCA (n.*1587_*1590delinsCTCA) c.1606_1609delinsCTCA (p.Leu536=) | |
| X | g.154956996G>A | CA519358348 | F8 | c.1713C>T (p.Leu571=) c.*1589C>T (n.*1589C>T) c.1608C>T (p.Leu536=) | gnomAD v4 |
| X | g.154956996G>C | CA519358343 | F8 | c.1713C>G (p.Leu571=) c.*1589C>G (n.*1589C>G) c.1608C>G (p.Leu536=) | |
| X | g.154956996G>T | CA519358344 | F8 | c.1713C>A (p.Leu571=) c.*1589C>A (n.*1589C>A) c.1608C>A (p.Leu536=) | |
| X | g.154956999_154957001del | CA2466845317 | F8 | c.1711_1713del (p.Leu571del) c.*1587_*1589del (n.*1587_*1589del) c.1606_1608del (p.Leu536del) | dbSNP |
| X | g.154956997A>C | CA414911689 | F8 | c.1712T>G (p.Leu571Arg) c.*1588T>G (n.*1588T>G) c.1607T>G (p.Leu536Arg) | ClinVar |
| X | g.154956997A>G | CA414911690 | F8 | c.1712T>C (p.Leu571Pro) c.*1588T>C (n.*1588T>C) c.1607T>C (p.Leu536Pro) | |
| X | g.154956997A>T | CA414911691 | F8 | c.1712T>A (p.Leu571His) c.*1588T>A (n.*1588T>A) c.1607T>A (p.Leu536His) | |
| X | g.154956998G>A | CA414911692 | F8 | c.1711C>T (p.Leu571Phe) c.*1587C>T (n.*1587C>T) c.1606C>T (p.Leu536Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154956998G>C | CA414911693 | F8 | c.1711C>G (p.Leu571Val) c.*1587C>G (n.*1587C>G) c.1606C>G (p.Leu536Val) | |
| X | g.154956998G= | CA2466845318 | F8 | c.1711C= (p.Leu571=) c.*1587C= (n.*1587C=) c.1606C= (p.Leu536=) | |
| X | g.154956998G>T | CA414911694 | F8 | c.1711C>A (p.Leu571Ile) c.*1587C>A (n.*1587C>A) c.1606C>A (p.Leu536Ile) | |
| X | g.154956999G>A | CA519358358 | F8 | c.1710C>T (p.Leu570=) c.*1586C>T (n.*1586C>T) c.1605C>T (p.Leu535=) | |
| X | g.154956999G>C | CA519358359 | F8 | c.1710C>G (p.Leu570=) c.*1586C>G (n.*1586C>G) c.1605C>G (p.Leu535=) | |
| X | g.154956999G>T | CA519358360 | F8 | c.1710C>A (p.Leu570=) c.*1586C>A (n.*1586C>A) c.1605C>A (p.Leu535=) | |
| X | g.154957000A>C | CA414911695 | F8 | c.1709T>G (p.Leu570Arg) c.*1585T>G (n.*1585T>G) c.1604T>G (p.Leu535Arg) | |
| X | g.154957000A>G | CA414911696 | F8 | c.1709T>C (p.Leu570Pro) c.*1585T>C (n.*1585T>C) c.1604T>C (p.Leu535Pro) | |
| X | g.154957000A>T | CA414911697 | F8 | c.1709T>A (p.Leu570His) c.*1585T>A (n.*1585T>A) c.1604T>A (p.Leu535His) | |
| X | g.154957001G>A | CA414911700 | F8 | c.1708C>T (p.Leu570Phe) c.*1584C>T (n.*1584C>T) c.1603C>T (p.Leu535Phe) | |
| X | g.154957001G>C | CA414911699 | F8 | c.1708C>G (p.Leu570Val) c.*1584C>G (n.*1584C>G) c.1603C>G (p.Leu535Val) | |
| X | g.154957001G>T | CA414911698 | F8 | c.1708C>A (p.Leu570Ile) c.*1584C>A (n.*1584C>A) c.1603C>A (p.Leu535Ile) | |
| X | g.154957002A>C | CA519358365 | F8 | c.1707T>G (p.Pro569=) c.*1583T>G (n.*1583T>G) c.1602T>G (p.Pro534=) | |
| X | g.154957002A>G | CA519358368 | F8 | c.1707T>C (p.Pro569=) c.*1583T>C (n.*1583T>C) c.1602T>C (p.Pro534=) | |
| X | g.154957002A>T | CA519358366 | F8 | c.1707T>A (p.Pro569=) c.*1583T>A (n.*1583T>A) c.1602T>A (p.Pro534=) | |
| X | g.154957003G>A | CA414911702 | F8 | c.1706C>T (p.Pro569Leu) c.*1582C>T (n.*1582C>T) c.1601C>T (p.Pro534Leu) | |
| X | g.154957003G>C | CA414911701 | F8 | c.1706C>G (p.Pro569Arg) c.*1582C>G (n.*1582C>G) c.1601C>G (p.Pro534Arg) | |
| X | g.154957003G>T | CA414911703 | F8 | c.1706C>A (p.Pro569His) c.*1582C>A (n.*1582C>A) c.1601C>A (p.Pro534His) | |
| X | g.154957004G>A | CA414911704 | F8 | c.1705C>T (p.Pro569Ser) c.*1581C>T (n.*1581C>T) c.1600C>T (p.Pro534Ser) | gnomAD v4 |
| X | g.154957004G>C | CA414911705 | F8 | c.1705C>G (p.Pro569Ala) c.*1581C>G (n.*1581C>G) c.1600C>G (p.Pro534Ala) | |
| X | g.154957004G>T | CA414911706 | F8 | c.1705C>A (p.Pro569Thr) c.*1581C>A (n.*1581C>A) c.1600C>A (p.Pro534Thr) | |
| X | g.154957005G>A | CA10568418 | F8 | c.1704C>T (p.Gly568=) c.*1580C>T (n.*1580C>T) c.1599C>T (p.Gly533=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154957005G>C | CA519358390 | F8 | c.1704C>G (p.Gly568=) c.*1580C>G (n.*1580C>G) c.1599C>G (p.Gly533=) | |
| X | g.154957005G= | CA2466845319 | F8 | c.1704C= (p.Gly568=) c.*1580C= (n.*1580C=) c.1599C= (p.Gly533=) | |
| X | g.154957005G>T | CA519358392 | F8 | c.1704C>A (p.Gly568=) c.*1580C>A (n.*1580C>A) c.1599C>A (p.Gly533=) | dbSNP COSMIC COSMIC |
| X | g.154957006C>A | CA414911707 | F8 | c.1703G>T (p.Gly568Val) c.*1579G>T (n.*1579G>T) c.1598G>T (p.Gly533Val) | |
| X | g.154957006C= | CA2466845320 | F8 | c.1703G= (p.Gly568=) c.*1579G= (n.*1579G=) c.1598G= (p.Gly533=) | |
| X | g.154957006C>G | CA414911708 | F8 | c.1703G>C (p.Gly568Ala) c.*1579G>C (n.*1579G>C) c.1598G>C (p.Gly533Ala) | |
| X | g.154957006C>T | CA414911709 | F8 | c.1703G>A (p.Gly568Asp) c.*1579G>A (n.*1579G>A) c.1598G>A (p.Gly533Asp) | dbSNP |
| X | g.154957007del | CA2695237254 | F8 | c.1703del (p.Gly568AlafsTer11) c.*1579del (n.*1579del) c.1598del (p.Gly533AlafsTer11) | |
| X | g.154957007C>A | CA414911710 | F8 | c.1702G>T (p.Gly568Cys) c.*1578G>T (n.*1578G>T) c.1597G>T (p.Gly533Cys) | |
| X | g.154957007C>G | CA414911711 | F8 | c.1702G>C (p.Gly568Arg) c.*1578G>C (n.*1578G>C) c.1597G>C (p.Gly533Arg) | |
| X | g.154957007C>T | CA414911712 | F8 | c.1702G>A (p.Gly568Ser) c.*1578G>A (n.*1578G>A) c.1597G>A (p.Gly533Ser) | |
| X | g.154957008A>C | CA414911713 | F8 | c.1701T>G (p.Ile567Met) c.*1577T>G (n.*1577T>G) c.1596T>G (p.Ile532Met) | |
| X | g.154957008A>G | CA519358404 | F8 | c.1701T>C (p.Ile567=) c.*1577T>C (n.*1577T>C) c.1596T>C (p.Ile532=) | gnomAD v4 |
| X | g.154957008A>T | CA519358402 | F8 | c.1701T>A (p.Ile567=) c.*1577T>A (n.*1577T>A) c.1596T>A (p.Ile532=) | |
| X | g.154957009del | CA915940891 | F8 | c.1701del (p.Ile567MetfsTer12) c.*1577del (n.*1577del) c.1596del (p.Ile532MetfsTer12) | ClinVar |
| X | g.154957009A= | CA2466845321 | F8 | c.1700T= (p.Ile567=) c.*1576T= (n.*1576T=) c.1595T= (p.Ile532=) | |
| X | g.154957009A>C | CA414911715 | F8 | c.1700T>G (p.Ile567Ser) c.*1576T>G (n.*1576T>G) c.1595T>G (p.Ile532Ser) | |
| X | g.154957009A>G | CA10568419 | F8 | c.1700T>C (p.Ile567Thr) c.*1576T>C (n.*1576T>C) c.1595T>C (p.Ile532Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154957009A>T | CA414911714 | F8 | c.1700T>A (p.Ile567Asn) c.*1576T>A (n.*1576T>A) c.1595T>A (p.Ile532Asn) | |
| X | g.154957010T>A | CA414911716 | F8 | c.1699A>T (p.Ile567Phe) c.*1575A>T (n.*1575A>T) c.1594A>T (p.Ile532Phe) | |
| X | g.154957010T>C | CA414911717 | F8 | c.1699A>G (p.Ile567Val) c.*1575A>G (n.*1575A>G) c.1594A>G (p.Ile532Val) | |
| X | g.154957010T>G | CA414911718 | F8 | c.1699A>C (p.Ile567Leu) c.*1575A>C (n.*1575A>C) c.1594A>C (p.Ile532Leu) | |
| X | g.154957011G>A | CA10568420 | F8 | c.1698C>T (p.Leu566=) c.*1574C>T (n.*1574C>T) c.1593C>T (p.Leu531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154957011G>C | CA519358414 | F8 | c.1698C>G (p.Leu566=) c.*1574C>G (n.*1574C>G) c.1593C>G (p.Leu531=) | |
| X | g.154957011G= | CA2466845322 | F8 | c.1698C= (p.Leu566=) c.*1574C= (n.*1574C=) c.1593C= (p.Leu531=) | |
| X | g.154957011G>T | CA10568421 | F8 | c.1698C>A (p.Leu566=) c.*1574C>A (n.*1574C>A) c.1593C>A (p.Leu531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154957012A= | CA2466845323 | F8 | c.1697T= (p.Leu566=) c.*1573T= (n.*1573T=) c.1592T= (p.Leu531=) | |
| X | g.154957012A>C | CA414911719 | F8 | c.1697T>G (p.Leu566Arg) c.*1573T>G (n.*1573T>G) c.1592T>G (p.Leu531Arg) | dbSNP |
| X | g.154957012A>G | CA414911720 | F8 | c.1697T>C (p.Leu566Pro) c.*1573T>C (n.*1573T>C) c.1592T>C (p.Leu531Pro) | |
| X | g.154957012A>T | CA414911721 | F8 | c.1697T>A (p.Leu566His) c.*1573T>A (n.*1573T>A) c.1592T>A (p.Leu531His) | |
| X | g.154957013G>A | CA414911722 | F8 | c.1696C>T (p.Leu566Phe) c.*1572C>T (n.*1572C>T) c.1591C>T (p.Leu531Phe) | ClinVar dbSNP |
| X | g.154957013G>C | CA414911724 | F8 | c.1696C>G (p.Leu566Val) c.*1572C>G (n.*1572C>G) c.1591C>G (p.Leu531Val) | |
| X | g.154957013G>T | CA414911725 | F8 | c.1696C>A (p.Leu566Ile) c.*1572C>A (n.*1572C>A) c.1591C>A (p.Leu531Ile) | |
| X | g.154957014T>A | CA519358422 | F8 | c.1695A>T (p.Gly565=) c.*1571A>T (n.*1571A>T) c.1590A>T (p.Gly530=) | |
| X | g.154957014T>C | CA519358424 | F8 | c.1695A>G (p.Gly565=) c.*1571A>G (n.*1571A>G) c.1590A>G (p.Gly530=) | |
| X | g.154957014T>G | CA519358426 | F8 | c.1695A>C (p.Gly565=) c.*1571A>C (n.*1571A>C) c.1590A>C (p.Gly530=) | |
| X | g.154957015C>A | CA414911729 | F8 | c.1694G>T (p.Gly565Val) c.*1570G>T (n.*1570G>T) c.1589G>T (p.Gly530Val) | |
| X | g.154957015C>G | CA414911728 | F8 | c.1694G>C (p.Gly565Ala) c.*1570G>C (n.*1570G>C) c.1589G>C (p.Gly530Ala) | |
| X | g.154957015C>T | CA414911727 | F8 | c.1694G>A (p.Gly565Glu) c.*1570G>A (n.*1570G>A) c.1589G>A (p.Gly530Glu) | |
| X | g.154957016C>A | CA414911730 | F8 | c.1693G>T (p.Gly565Ter) c.*1569G>T (n.*1569G>T) c.1588G>T (p.Gly530Ter) | dbSNP |
| X | g.154957016C= | CA2466845324 | F8 | c.1693G= (p.Gly565=) c.*1569G= (n.*1569G=) c.1588G= (p.Gly530=) | |
| X | g.154957016C>G | CA414911731 | F8 | c.1693G>C (p.Gly565Arg) c.*1569G>C (n.*1569G>C) c.1588G>C (p.Gly530Arg) | |
| X | g.154957016C>T | CA414911732 | F8 | c.1693G>A (p.Gly565Arg) c.*1569G>A (n.*1569G>A) c.1588G>A (p.Gly530Arg) | |
| X | g.154957017T>A | CA519358440 | F8 | c.1692A>T (p.Ser564=) c.*1568A>T (n.*1568A>T) c.1587A>T (p.Ser529=) | |
| X | g.154957017T>C | CA519358437 | F8 | c.1692A>G (p.Ser564=) c.*1568A>G (n.*1568A>G) c.1587A>G (p.Ser529=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154957017T>G | CA519358438 | F8 | c.1692A>C (p.Ser564=) c.*1568A>C (n.*1568A>C) c.1587A>C (p.Ser529=) | |
| X | g.154957017T= | CA2466845325 | F8 | c.1692A= (p.Ser564=) c.*1568A= (n.*1568A=) c.1587A= (p.Ser529=) | |
| X | g.154957018G>A | CA414911733 | F8 | c.1691C>T (p.Ser564Leu) c.*1567C>T (n.*1567C>T) c.1586C>T (p.Ser529Leu) | dbSNP |
| X | g.154957018G>C | CA414911734 | F8 | c.1691C>G (p.Ser564Ter) c.*1567C>G (n.*1567C>G) c.1586C>G (p.Ser529Ter) | |
| X | g.154957018G= | CA2466845326 | F8 | c.1691C= (p.Ser564=) c.*1567C= (n.*1567C=) c.1586C= (p.Ser529=) | |
| X | g.154957018G>T | CA414911735 | F8 | c.1691C>A (p.Ser564Ter) c.*1567C>A (n.*1567C>A) c.1586C>A (p.Ser529Ter) | |
| X | g.154957019A>C | CA414911736 | F8 | c.1690T>G (p.Ser564Ala) c.*1566T>G (n.*1566T>G) c.1585T>G (p.Ser529Ala) | |
| X | g.154957019A>G | CA414911737 | F8 | c.1690T>C (p.Ser564Pro) c.*1566T>C (n.*1566T>C) c.1585T>C (p.Ser529Pro) | |
| X | g.154957019A>T | CA414911738 | F8 | c.1690T>A (p.Ser564Thr) c.*1566T>A (n.*1566T>A) c.1585T>A (p.Ser529Thr) | |
| X | g.154957020A>C | CA519358449 | F8 | c.1689T>G (p.Ala563=) c.*1565T>G (n.*1565T>G) c.1584T>G (p.Ala528=) | |
| X | g.154957020A>G | CA519358451 | F8 | c.1689T>C (p.Ala563=) c.*1565T>C (n.*1565T>C) c.1584T>C (p.Ala528=) | |
| X | g.154957020A>T | CA519358453 | F8 | c.1689T>A (p.Ala563=) c.*1565T>A (n.*1565T>A) c.1584T>A (p.Ala528=) | |
| X | g.154957021G>A | CA10568422 | F8 | c.1688C>T (p.Ala563Val) c.*1564C>T (n.*1564C>T) c.1583C>T (p.Ala528Val) | dbSNP ExAC gnomAD v2 |
| X | g.154957021G>C | CA414911739 | F8 | c.1688C>G (p.Ala563Gly) c.*1564C>G (n.*1564C>G) c.1583C>G (p.Ala528Gly) | |
| X | g.154957021G= | CA2466845327 | F8 | c.1688C= (p.Ala563=) c.*1564C= (n.*1564C=) c.1583C= (p.Ala528=) | |
| X | g.154957021G>T | CA414911740 | F8 | c.1688C>A (p.Ala563Asp) c.*1564C>A (n.*1564C>A) c.1583C>A (p.Ala528Asp) | |
| X | g.154957022C>A | CA414911744 | F8 | c.1687G>T (p.Ala563Ser) c.*1563G>T (n.*1563G>T) c.1582G>T (p.Ala528Ser) | |
| X | g.154957022C>G | CA414911741 | F8 | c.1687G>C (p.Ala563Pro) c.*1563G>C (n.*1563G>C) c.1582G>C (p.Ala528Pro) | |
| X | g.154957022C>T | CA414911742 | F8 | c.1687G>A (p.Ala563Thr) c.*1563G>A (n.*1563G>A) c.1582G>A (p.Ala528Thr) | |
| X | g.154957023T>A | CA519358464 | F8 | c.1686A>T (p.Leu562=) c.*1562A>T (n.*1562A>T) c.1581A>T (p.Leu527=) | |
| X | g.154957023T>C | CA10568423 | F8 | c.1686A>G (p.Leu562=) c.*1562A>G (n.*1562A>G) c.1581A>G (p.Leu527=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154957023T>G | CA519358461 | F8 | c.1686A>C (p.Leu562=) c.*1562A>C (n.*1562A>C) c.1581A>C (p.Leu527=) | |
| X | g.154957023T= | CA2466845328 | F8 | c.1686A= (p.Leu562=) c.*1562A= (n.*1562A=) c.1581A= (p.Leu527=) | |
| X | g.154957024A>C | CA414911745 | F8 | c.1685T>G (p.Leu562Arg) c.*1561T>G (n.*1561T>G) c.1580T>G (p.Leu527Arg) | |
| X | g.154957024A>G | CA414911746 | F8 | c.1685T>C (p.Leu562Pro) c.*1561T>C (n.*1561T>C) c.1580T>C (p.Leu527Pro) | |
| X | g.154957024A>T | CA414911747 | F8 | c.1685T>A (p.Leu562Gln) c.*1561T>A (n.*1561T>A) c.1580T>A (p.Leu527Gln) | |
| X | g.154957025G>A | CA519358471 | F8 | c.1684C>T (p.Leu562=) c.*1560C>T (n.*1560C>T) c.1579C>T (p.Leu527=) | |
| X | g.154957025G>C | CA414911748 | F8 | c.1684C>G (p.Leu562Val) c.*1560C>G (n.*1560C>G) c.1579C>G (p.Leu527Val) | |
| X | g.154957025G>T | CA414911750 | F8 | c.1684C>A (p.Leu562Ile) c.*1560C>A (n.*1560C>A) c.1579C>A (p.Leu527Ile) | |
| X | g.154957026A>C | CA414911751 | F8 | c.1683T>G (p.Asp561Glu) c.*1559T>G (n.*1559T>G) c.1578T>G (p.Asp526Glu) | |
| X | g.154957026A>G | CA519358474 | F8 | c.1683T>C (p.Asp561=) c.*1559T>C (n.*1559T>C) c.1578T>C (p.Asp526=) | |
| X | g.154957026A>T | CA414911752 | F8 | c.1683T>A (p.Asp561Glu) c.*1559T>A (n.*1559T>A) c.1578T>A (p.Asp526Glu) | |
| X | g.154957027del | CA1139532041 | F8 | c.1682del (p.Asp561ValfsTer2) c.*1558del (n.*1558del) c.1577del (p.Asp526ValfsTer2) | |
| X | g.154957027T>A | CA414911753 | F8 | c.1682A>T (p.Asp561Val) c.*1558A>T (n.*1558A>T) c.1577A>T (p.Asp526Val) | |
| X | g.154957027T>C | CA255117 | F8 | c.1682A>G (p.Asp561Gly) c.*1558A>G (n.*1558A>G) c.1577A>G (p.Asp526Gly) | ClinVar dbSNP |
| X | g.154957027T>G | CA414911754 | F8 | c.1682A>C (p.Asp561Ala) c.*1558A>C (n.*1558A>C) c.1577A>C (p.Asp526Ala) | |
| X | g.154957027T= | CA2466845329 | F8 | c.1682A= (p.Asp561=) c.*1558A= (n.*1558A=) c.1577A= (p.Asp526=) | |
| X | g.154957028C>A | CA414911757 | F8 | c.1681G>T (p.Asp561Tyr) c.*1557G>T (n.*1557G>T) c.1576G>T (p.Asp526Tyr) | |
| X | g.154957028C= | CA2466845330 | F8 | c.1681G= (p.Asp561=) c.*1557G= (n.*1557G=) c.1576G= (p.Asp526=) | |
| X | g.154957028C>G | CA414911756 | F8 | c.1681G>C (p.Asp561His) c.*1557G>C (n.*1557G>C) c.1576G>C (p.Asp526His) | |
| X | g.154957028C>T | CA414911755 | F8 | c.1681G>A (p.Asp561Asn) c.*1557G>A (n.*1557G>A) c.1576G>A (p.Asp526Asn) | dbSNP |
| X | g.154957029T>A | CA414911758 | F8 | c.1680A>T (p.Arg560Ser) c.*1556A>T (n.*1556A>T) c.1575A>T (p.Arg525Ser) | |
| X | g.154957029T>C | CA519358481 | F8 | c.1680A>G (p.Arg560=) c.*1556A>G (n.*1556A>G) c.1575A>G (p.Arg525=) | dbSNP |
| X | g.154957029T>G | CA414911759 | F8 | c.1680A>C (p.Arg560Ser) c.*1556A>C (n.*1556A>C) c.1575A>C (p.Arg525Ser) | |
| X | g.154957029T= | CA2466845331 | F8 | c.1680A= (p.Arg560=) c.*1556A= (n.*1556A=) c.1575A= (p.Arg525=) | |
| X | g.154957029_154957036delinsGAGAGAT | CA2695237255 | F8 | c.1673_1680delinsATCTCTC (p.Met558AsnfsTer5) c.*1549_*1556delinsATCTCTC (n.*1549_*1556delinsATCTCTC) c.1568_1575delinsATCTCTC (p.Met523AsnfsTer5) | |
| X | g.154957030C>A | CA414911760 | F8 | c.1679G>T (p.Arg560Ile) c.*1555G>T (n.*1555G>T) c.1574G>T (p.Arg525Ile) | |
| X | g.154957030C>G | CA414911761 | F8 | c.1679G>C (p.Arg560Thr) c.*1555G>C (n.*1555G>C) c.1574G>C (p.Arg525Thr) | |
| X | g.154957030C>T | CA414911762 | F8 | c.1679G>A (p.Arg560Lys) c.*1555G>A (n.*1555G>A) c.1574G>A (p.Arg525Lys) | |
| X | g.154957031T>A | CA414911763 | F8 | c.1678A>T (p.Arg560Ter) c.*1554A>T (n.*1554A>T) c.1573A>T (p.Arg525Ter) | |
| X | g.154957031T>C | CA414911764 | F8 | c.1678A>G (p.Arg560Gly) c.*1554A>G (n.*1554A>G) c.1573A>G (p.Arg525Gly) | dbSNP |
| X | g.154957031T>G | CA519358490 | F8 | c.1678A>C (p.Arg560=) c.*1554A>C (n.*1554A>C) c.1573A>C (p.Arg525=) | |
| X | g.154957031T= | CA2466845332 | F8 | c.1678A= (p.Arg560=) c.*1554A= (n.*1554A=) c.1573A= (p.Arg525=) | |
| X | g.154957032C>A | CA414911766 | F8 | c.1677G>T (p.Glu559Asp) c.*1553G>T (n.*1553G>T) c.1572G>T (p.Glu524Asp) | |
| X | g.154957032C>G | CA414911765 | F8 | c.1677G>C (p.Glu559Asp) c.*1553G>C (n.*1553G>C) c.1572G>C (p.Glu524Asp) | gnomAD v4 |
| X | g.154957032C>T | CA519358492 | F8 | c.1677G>A (p.Glu559=) c.*1553G>A (n.*1553G>A) c.1572G>A (p.Glu524=) | |
| X | g.154957032_154957033delinsCT | CA2466845333 | F8 | c.1676_1677delinsAG (p.Glu559=) c.*1552_*1553delinsAG (n.*1552_*1553delinsAG) c.1571_1572delinsAG (p.Glu524=) | |
| X | g.154957033del | CA873353833 | F8 | c.1676del (p.Glu559GlyfsTer4) c.*1552del (n.*1552del) c.1571del (p.Glu524GlyfsTer4) | dbSNP |
| X | g.154957033T>A | CA414911767 | F8 | c.1676A>T (p.Glu559Val) c.*1552A>T (n.*1552A>T) c.1571A>T (p.Glu524Val) | |
| X | g.154957033T>C | CA414911768 | F8 | c.1676A>G (p.Glu559Gly) c.*1552A>G (n.*1552A>G) c.1571A>G (p.Glu524Gly) | |
| X | g.154957033T>G | CA414911769 | F8 | c.1676A>C (p.Glu559Ala) c.*1552A>C (n.*1552A>C) c.1571A>C (p.Glu524Ala) | |
| X | g.154957034C>A | CA414911770 | F8 | c.1675G>T (p.Glu559Ter) c.*1551G>T (n.*1551G>T) c.1570G>T (p.Glu524Ter) | |
| X | g.154957034C= | CA2466845334 | F8 | c.1675G= (p.Glu559=) c.*1551G= (n.*1551G=) c.1570G= (p.Glu524=) | |
| X | g.154957034C>G | CA414911771 | F8 | c.1675G>C (p.Glu559Gln) c.*1551G>C (n.*1551G>C) c.1570G>C (p.Glu524Gln) | |
| X | g.154957034C>T | CA414911772 | F8 | c.1675G>A (p.Glu559Lys) c.*1551G>A (n.*1551G>A) c.1570G>A (p.Glu524Lys) | dbSNP |
| X | g.154957035C>A | CA414911773 | F8 | c.1674G>T (p.Met558Ile) c.*1550G>T (n.*1550G>T) c.1569G>T (p.Met523Ile) | COSMIC COSMIC |
| X | g.154957035C>G | CA414911775 | F8 | c.1674G>C (p.Met558Ile) c.*1550G>C (n.*1550G>C) c.1569G>C (p.Met523Ile) | |
| X | g.154957035C>T | CA414911774 | F8 | c.1674G>A (p.Met558Ile) c.*1550G>A (n.*1550G>A) c.1569G>A (p.Met523Ile) | |
| X | g.154957036A>C | CA414911776 | F8 | c.1673T>G (p.Met558Arg) c.*1549T>G (n.*1549T>G) c.1568T>G (p.Met523Arg) | |
| X | g.154957036A>G | CA414911777 | F8 | c.1673T>C (p.Met558Thr) c.*1549T>C (n.*1549T>C) c.1568T>C (p.Met523Thr) | |
| X | g.154957036A>T | CA414911778 | F8 | c.1673T>A (p.Met558Lys) c.*1549T>A (n.*1549T>A) c.1568T>A (p.Met523Lys) | |
| X | g.154957037T>A | CA414911780 | F8 | c.1672A>T (p.Met558Leu) c.*1548A>T (n.*1548A>T) c.1567A>T (p.Met523Leu) | |
| X | g.154957037T>C | CA414911781 | F8 | c.1672A>G (p.Met558Val) c.*1548A>G (n.*1548A>G) c.1567A>G (p.Met523Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154957037T>G | CA414911782 | F8 | c.1672A>C (p.Met558Leu) c.*1548A>C (n.*1548A>C) c.1567A>C (p.Met523Leu) | |
| X | g.154957037T= | CA2466845335 | F8 | c.1672A= (p.Met558=) c.*1548A= (n.*1548A=) c.1567A= (p.Met523=) | |
| X | g.154957038A>C | CA414911783 | F8 | c.1671T>G (p.Asn557Lys) c.*1547T>G (n.*1547T>G) c.1566T>G (p.Asn522Lys) | |
| X | g.154957038A>G | CA519358513 | F8 | c.1671T>C (p.Asn557=) c.*1547T>C (n.*1547T>C) c.1566T>C (p.Asn522=) | |
| X | g.154957038A>T | CA414911784 | F8 | c.1671T>A (p.Asn557Lys) c.*1547T>A (n.*1547T>A) c.1566T>A (p.Asn522Lys) | |
| X | g.154957039T>A | CA414911785 | F8 | c.1670A>T (p.Asn557Ile) c.*1546A>T (n.*1546A>T) c.1565A>T (p.Asn522Ile) | |
| X | g.154957039T>C | CA414911786 | F8 | c.1670A>G (p.Asn557Ser) c.*1546A>G (n.*1546A>G) c.1565A>G (p.Asn522Ser) | |
| X | g.154957039T>G | CA414911787 | F8 | c.1670A>C (p.Asn557Thr) c.*1546A>C (n.*1546A>C) c.1565A>C (p.Asn522Thr) | |
| X | g.154957040T>A | CA414911788 | F8 | c.1669A>T (p.Asn557Tyr) c.*1545A>T (n.*1545A>T) c.1564A>T (p.Asn522Tyr) | |
| X | g.154957040T>C | CA414911790 | F8 | c.1669A>G (p.Asn557Asp) c.*1545A>G (n.*1545A>G) c.1564A>G (p.Asn522Asp) | COSMIC COSMIC |
| X | g.154957040T>G | CA414911789 | F8 | c.1669A>C (p.Asn557His) c.*1545A>C (n.*1545A>C) c.1564A>C (p.Asn522His) | |
| X | g.154957041A>C | CA519358523 | F8 | c.1668T>G (p.Val556=) c.*1544T>G (n.*1544T>G) c.1563T>G (p.Val521=) | COSMIC COSMIC |
| X | g.154957041A>G | CA519358524 | F8 | c.1668T>C (p.Val556=) c.*1544T>C (n.*1544T>C) c.1563T>C (p.Val521=) | |
| X | g.154957041A>T | CA519358526 | F8 | c.1668T>A (p.Val556=) c.*1544T>A (n.*1544T>A) c.1563T>A (p.Val521=) | |
| X | g.154957042A>C | CA414911791 | F8 | c.1667T>G (p.Val556Gly) c.*1543T>G (n.*1543T>G) c.1562T>G (p.Val521Gly) | |
| X | g.154957042A>G | CA414911792 | F8 | c.1667T>C (p.Val556Ala) c.*1543T>C (n.*1543T>C) c.1562T>C (p.Val521Ala) | |
| X | g.154957042A>T | CA414911793 | F8 | c.1667T>A (p.Val556Asp) c.*1543T>A (n.*1543T>A) c.1562T>A (p.Val521Asp) | |
| X | g.154957043C>A | CA414911794 | F8 | c.1666G>T (p.Val556Phe) c.*1542G>T (n.*1542G>T) c.1561G>T (p.Val521Phe) | |
| X | g.154957043C= | CA2466845336 | F8 | c.1666G= (p.Val556=) c.*1542G= (n.*1542G=) c.1561G= (p.Val521=) | |
| X | g.154957043C>G | CA414911795 | F8 | c.1666G>C (p.Val556Leu) c.*1542G>C (n.*1542G>C) c.1561G>C (p.Val521Leu) | |
| X | g.154957043C>T | CA10568424 | F8 | c.1666G>A (p.Val556Ile) c.*1542G>A (n.*1542G>A) c.1561G>A (p.Val521Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154957044G>A | CA337332886 | F8 | c.1665C>T (p.Phe555=) c.*1541C>T (n.*1541C>T) c.1560C>T (p.Phe520=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154957044G>C | CA414911796 | F8 | c.1665C>G (p.Phe555Leu) c.*1541C>G (n.*1541C>G) c.1560C>G (p.Phe520Leu) | |
| X | g.154957044G= | CA2466845337 | F8 | c.1665C= (p.Phe555=) c.*1541C= (n.*1541C=) c.1560C= (p.Phe520=) | |
| X | g.154957044G>T | CA414911797 | F8 | c.1665C>A (p.Phe555Leu) c.*1541C>A (n.*1541C>A) c.1560C>A (p.Phe520Leu) | |
| X | g.154957045A>C | CA414911798 | F8 | c.1664T>G (p.Phe555Cys) c.*1540T>G (n.*1540T>G) c.1559T>G (p.Phe520Cys) | |
| X | g.154957045A>G | CA414911799 | F8 | c.1664T>C (p.Phe555Ser) c.*1540T>C (n.*1540T>C) c.1559T>C (p.Phe520Ser) | gnomAD v4 |
| X | g.154957045A>T | CA414911800 | F8 | c.1664T>A (p.Phe555Tyr) c.*1540T>A (n.*1540T>A) c.1559T>A (p.Phe520Tyr) | |
| X | g.154957047del | CA2695237256 | F8 | c.1664del (p.Phe555SerfsTer8) c.*1540del (n.*1540del) c.1559del (p.Phe520SerfsTer8) | |
| X | g.154957046A>C | CA414911803 | F8 | c.1663T>G (p.Phe555Val) c.*1539T>G (n.*1539T>G) c.1558T>G (p.Phe520Val) | |
| X | g.154957046A>G | CA414911801 | F8 | c.1663T>C (p.Phe555Leu) c.*1539T>C (n.*1539T>C) c.1558T>C (p.Phe520Leu) | |
| X | g.154957046A>T | CA414911802 | F8 | c.1663T>A (p.Phe555Ile) c.*1539T>A (n.*1539T>A) c.1558T>A (p.Phe520Ile) | |
| X | g.154957047A>C | CA414911804 | F8 | c.1662T>G (p.Ser554Arg) c.*1538T>G (n.*1538T>G) c.1557T>G (p.Ser519Arg) | |
| X | g.154957047A>G | CA519358545 | F8 | c.1662T>C (p.Ser554=) c.*1538T>C (n.*1538T>C) c.1557T>C (p.Ser519=) | |
| X | g.154957047A>T | CA414911805 | F8 | c.1662T>A (p.Ser554Arg) c.*1538T>A (n.*1538T>A) c.1557T>A (p.Ser519Arg) | |
| X | g.154957048C>A | CA414911806 | F8 | c.1661G>T (p.Ser554Ile) c.*1537G>T (n.*1537G>T) c.1556G>T (p.Ser519Ile) | |
| X | g.154957048C= | CA2466845338 | F8 | c.1661G= (p.Ser554=) c.*1537G= (n.*1537G=) c.1556G= (p.Ser519=) | |
| X | g.154957048C>G | CA414911807 | F8 | c.1661G>C (p.Ser554Thr) c.*1537G>C (n.*1537G>C) c.1556G>C (p.Ser519Thr) | |
| X | g.154957048C>T | CA414911808 | F8 | c.1661G>A (p.Ser554Asn) c.*1537G>A (n.*1537G>A) c.1556G>A (p.Ser519Asn) | dbSNP |
| X | g.154957049T>A | CA414911809 | F8 | c.1660A>T (p.Ser554Cys) c.*1536A>T (n.*1536A>T) c.1555A>T (p.Ser519Cys) | |
| X | g.154957049T>C | CA255116 | F8 | c.1660A>G (p.Ser554Gly) c.*1536A>G (n.*1536A>G) c.1555A>G (p.Ser519Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154957049T>G | CA414911810 | F8 | c.1660A>C (p.Ser554Arg) c.*1536A>C (n.*1536A>C) c.1555A>C (p.Ser519Arg) | |
| X | g.154957049T= | CA2466845339 | F8 | c.1660A= (p.Ser554=) c.*1536A= (n.*1536A=) c.1555A= (p.Ser519=) | |
| X | g.154957050A>C | CA519358553 | F8 | c.1659T>G (p.Ser553=) c.*1535T>G (n.*1535T>G) c.1554T>G (p.Ser518=) | |
| X | g.154957050A>G | CA519358555 | F8 | c.1659T>C (p.Ser553=) c.*1535T>C (n.*1535T>C) c.1554T>C (p.Ser518=) | |
| X | g.154957050A>T | CA519358556 | F8 | c.1659T>A (p.Ser553=) c.*1535T>A (n.*1535T>A) c.1554T>A (p.Ser518=) | |
| X | g.154957051G>A | CA414911811 | F8 | c.1658C>T (p.Ser553Phe) c.*1534C>T (n.*1534C>T) c.1553C>T (p.Ser518Phe) | |
| X | g.154957051G>C | CA414911812 | F8 | c.1658C>G (p.Ser553Cys) c.*1534C>G (n.*1534C>G) c.1553C>G (p.Ser518Cys) | ClinVar gnomAD v4 COSMIC COSMIC |
| X | g.154957051G>T | CA414911813 | F8 | c.1658C>A (p.Ser553Tyr) c.*1534C>A (n.*1534C>A) c.1553C>A (p.Ser518Tyr) | |
| X | g.154957052A= | CA2466845340 | F8 | c.1657T= (p.Ser553=) c.*1533T= (n.*1533T=) c.1552T= (p.Ser518=) | |
| X | g.154957052A>C | CA414911814 | F8 | c.1657T>G (p.Ser553Ala) c.*1533T>G (n.*1533T>G) c.1552T>G (p.Ser518Ala) | |
| X | g.154957052A>G | CA414911816 | F8 | c.1657T>C (p.Ser553Pro) c.*1533T>C (n.*1533T>C) c.1552T>C (p.Ser518Pro) | dbSNP |
| X | g.154957052A>T | CA414911815 | F8 | c.1657T>A (p.Ser553Thr) c.*1533T>A (n.*1533T>A) c.1552T>A (p.Ser518Thr) | |
| X | g.154957053G>A | CA519358566 | F8 | c.1656C>T (p.Tyr552=) c.*1532C>T (n.*1532C>T) c.1551C>T (p.Tyr517=) | |
| X | g.154957053G>C | CA414911817 | F8 | c.1656C>G (p.Tyr552Ter) c.*1532C>G (n.*1532C>G) c.1551C>G (p.Tyr517Ter) | |
| X | g.154957053G>T | CA414911818 | F8 | c.1656C>A (p.Tyr552Ter) c.*1532C>A (n.*1532C>A) c.1551C>A (p.Tyr517Ter) | |
| X | g.154957054T>A | CA414911819 | F8 | c.1655A>T (p.Tyr552Phe) c.*1531A>T (n.*1531A>T) c.1550A>T (p.Tyr517Phe) | |
| X | g.154957054T>C | CA414911820 | F8 | c.1655A>G (p.Tyr552Cys) c.*1531A>G (n.*1531A>G) c.1550A>G (p.Tyr517Cys) | |
| X | g.154957054T>G | CA414911821 | F8 | c.1655A>C (p.Tyr552Ser) c.*1531A>C (n.*1531A>C) c.1550A>C (p.Tyr517Ser) | |
| X | g.154957055A= | CA2466845341 | F8 | c.1654T= (p.Tyr552=) c.*1530T= (n.*1530T=) c.1549T= (p.Tyr517=) | |
| X | g.154957055A>C | CA414911822 | F8 | c.1654T>G (p.Tyr552Asp) c.*1530T>G (n.*1530T>G) c.1549T>G (p.Tyr517Asp) | |
| X | g.154957055A>G | CA414911823 | F8 | c.1654T>C (p.Tyr552His) c.*1530T>C (n.*1530T>C) c.1549T>C (p.Tyr517His) | ClinVar dbSNP |
| X | g.154957055A>T | CA414911824 | F8 | c.1654T>A (p.Tyr552Asn) c.*1530T>A (n.*1530T>A) c.1549T>A (p.Tyr517Asn) | |
| X | g.154957056A>C | CA414911825 | F8 | c.1653T>G (p.Tyr551Ter) c.*1529T>G (n.*1529T>G) c.1548T>G (p.Tyr516Ter) | |
| X | g.154957056A>G | CA519358578 | F8 | c.1653T>C (p.Tyr551=) c.*1529T>C (n.*1529T>C) c.1548T>C (p.Tyr516=) | |
| X | g.154957056A>T | CA414911826 | F8 | c.1653T>A (p.Tyr551Ter) c.*1529T>A (n.*1529T>A) c.1548T>A (p.Tyr516Ter) | |
| X | g.154957057T>A | CA414911828 | F8 | c.1652A>T (p.Tyr551Phe) c.*1528A>T (n.*1528A>T) c.1547A>T (p.Tyr516Phe) | |
| X | g.154957057T>C | CA414911830 | F8 | c.1652A>G (p.Tyr551Cys) c.*1528A>G (n.*1528A>G) c.1547A>G (p.Tyr516Cys) | ClinVar dbSNP |
| X | g.154957057T>G | CA414911831 | F8 | c.1652A>C (p.Tyr551Ser) c.*1528A>C (n.*1528A>C) c.1547A>C (p.Tyr516Ser) | gnomAD v4 COSMIC COSMIC |
| X | g.154957057T= | CA2466845342 | F8 | c.1652A= (p.Tyr551=) c.*1528A= (n.*1528A=) c.1547A= (p.Tyr516=) | |
| X | g.154957058A= | CA2466845343 | F8 | c.1651T= (p.Tyr551=) c.*1527T= (n.*1527T=) c.1546T= (p.Tyr516=) | |
| X | g.154957058A>C | CA414911833 | F8 | c.1651T>G (p.Tyr551Asp) c.*1527T>G (n.*1527T>G) c.1546T>G (p.Tyr516Asp) | dbSNP gnomAD v4 |
| X | g.154957058A>G | CA414911837 | F8 | c.1651T>C (p.Tyr551His) c.*1527T>C (n.*1527T>C) c.1546T>C (p.Tyr516His) | |
| X | g.154957058A>T | CA414911835 | F8 | c.1651T>A (p.Tyr551Asn) c.*1527T>A (n.*1527T>A) c.1546T>A (p.Tyr516Asn) | |
| X | g.154957059G>A | CA519358600 | F8 | c.1650C>T (p.Arg550=) c.*1526C>T (n.*1526C>T) c.1545C>T (p.Arg515=) | dbSNP |
| X | g.154957059G>C | CA519358598 | F8 | c.1650C>G (p.Arg550=) c.*1526C>G (n.*1526C>G) c.1545C>G (p.Arg515=) | |
| X | g.154957059G>T | CA519358596 | F8 | c.1650C>A (p.Arg550=) c.*1526C>A (n.*1526C>A) c.1545C>A (p.Arg515=) | |
| X | g.154957060C>A | CA414911838 | F8 | c.1649G>T (p.Arg550Leu) c.*1525G>T (n.*1525G>T) c.1544G>T (p.Arg515Leu) | dbSNP |
| X | g.154957060C= | CA2466845344 | F8 | c.1649G= (p.Arg550=) c.*1525G= (n.*1525G=) c.1544G= (p.Arg515=) | |
| X | g.154957060C>G | CA414911839 | F8 | c.1649G>C (p.Arg550Pro) c.*1525G>C (n.*1525G>C) c.1544G>C (p.Arg515Pro) | dbSNP |
| X | g.154957060C>T | CA255115 | F8 | c.1649G>A (p.Arg550His) c.*1525G>A (n.*1525G>A) c.1544G>A (p.Arg515His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.154957061G>A | CA255113 | F8 | c.1648C>T (p.Arg550Cys) c.*1524C>T (n.*1524C>T) c.1543C>T (p.Arg515Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154957061G>C | CA255114 | F8 | c.1648C>G (p.Arg550Gly) c.*1524C>G (n.*1524C>G) c.1543C>G (p.Arg515Gly) | ClinVar dbSNP |
| X | g.154957061G= | CA2466845345 | F8 | c.1648C= (p.Arg550=) c.*1524C= (n.*1524C=) c.1543C= (p.Arg515=) | |
| X | g.154957061G>T | CA414911841 | F8 | c.1648C>A (p.Arg550Ser) c.*1524C>A (n.*1524C>A) c.1543C>A (p.Arg515Ser) | |
| X | g.154957062G>A | CA519358613 | F8 | c.1647C>T (p.Thr549=) c.*1523C>T (n.*1523C>T) c.1542C>T (p.Thr514=) | |
| X | g.154957062G>C | CA519358614 | F8 | c.1647C>G (p.Thr549=) c.*1523C>G (n.*1523C>G) c.1542C>G (p.Thr514=) | |
| X | g.154957062G>T | CA519358616 | F8 | c.1647C>A (p.Thr549=) c.*1523C>A (n.*1523C>A) c.1542C>A (p.Thr514=) | |
| X | g.154957063G>A | CA10568425 | F8 | c.1646C>T (p.Thr549Ile) c.*1522C>T (n.*1522C>T) c.1541C>T (p.Thr514Ile) | dbSNP ExAC gnomAD v2 |
| X | g.154957063G>C | CA414911844 | F8 | c.1646C>G (p.Thr549Ser) c.*1522C>G (n.*1522C>G) c.1541C>G (p.Thr514Ser) | |
| X | g.154957063G= | CA2466845346 | F8 | c.1646C= (p.Thr549=) c.*1522C= (n.*1522C=) c.1541C= (p.Thr514=) | |
| X | g.154957063G>T | CA414911846 | F8 | c.1646C>A (p.Thr549Asn) c.*1522C>A (n.*1522C>A) c.1541C>A (p.Thr514Asn) | dbSNP |
| X | g.154957064T>A | CA414911850 | F8 | c.1645A>T (p.Thr549Ser) c.*1521A>T (n.*1521A>T) c.1540A>T (p.Thr514Ser) | |
| X | g.154957064T>C | CA414911851 | F8 | c.1645A>G (p.Thr549Ala) c.*1521A>G (n.*1521A>G) c.1540A>G (p.Thr514Ala) | |
| X | g.154957064T>G | CA414911848 | F8 | c.1645A>C (p.Thr549Pro) c.*1521A>C (n.*1521A>C) c.1540A>C (p.Thr514Pro) | |
| X | g.154957065C>A | CA519358622 | F8 | c.1644G>T (p.Leu548=) c.*1520G>T (n.*1520G>T) c.1539G>T (p.Leu513=) | gnomAD v4 |
| X | g.154957065C>G | CA519358626 | F8 | c.1644G>C (p.Leu548=) c.*1520G>C (n.*1520G>C) c.1539G>C (p.Leu513=) | |
| X | g.154957065C>T | CA519358624 | F8 | c.1644G>A (p.Leu548=) c.*1520G>A (n.*1520G>A) c.1539G>A (p.Leu513=) | |
| X | g.154957066A>C | CA414911852 | F8 | c.1643T>G (p.Leu548Arg) c.*1519T>G (n.*1519T>G) c.1538T>G (p.Leu513Arg) | |
| X | g.154957066A>G | CA16609330 | F8 | c.1643T>C (p.Leu548Pro) c.*1519T>C (n.*1519T>C) c.1538T>C (p.Leu513Pro) | |
| X | g.154957066A>T | CA414911854 | F8 | c.1643T>A (p.Leu548Gln) c.*1519T>A (n.*1519T>A) c.1538T>A (p.Leu513Gln) | |
| X | g.154957067G>A | CA519358632 | F8 | c.1642C>T (p.Leu548=) c.*1518C>T (n.*1518C>T) c.1537C>T (p.Leu513=) | |
| X | g.154957067G>C | CA414911856 | F8 | c.1642C>G (p.Leu548Val) c.*1518C>G (n.*1518C>G) c.1537C>G (p.Leu513Val) | COSMIC COSMIC |
| X | g.154957067G>T | CA414911858 | F8 | c.1642C>A (p.Leu548Met) c.*1518C>A (n.*1518C>A) c.1537C>A (p.Leu513Met) | |
| X | g.154957068G>A | CA519358636 | F8 | c.1641C>T (p.Cys547=) c.*1517C>T (n.*1517C>T) c.1536C>T (p.Cys512=) | |
| X | g.154957068G>C | CA414911863 | F8 | c.1641C>G (p.Cys547Trp) c.*1517C>G (n.*1517C>G) c.1536C>G (p.Cys512Trp) | |
| X | g.154957068G>T | CA414911860 | F8 | c.1641C>A (p.Cys547Ter) c.*1517C>A (n.*1517C>A) c.1536C>A (p.Cys512Ter) | |
| X | g.154957069C>A | CA414911866 | F8 | c.1640G>T (p.Cys547Phe) c.*1516G>T (n.*1516G>T) c.1535G>T (p.Cys512Phe) | dbSNP |
| X | g.154957069C= | CA2466845347 | F8 | c.1640G= (p.Cys547=) c.*1516G= (n.*1516G=) c.1535G= (p.Cys512=) | |
| X | g.154957069C>G | CA414911869 | F8 | c.1640G>C (p.Cys547Ser) c.*1516G>C (n.*1516G>C) c.1535G>C (p.Cys512Ser) | |
| X | g.154957069C>T | CA414911871 | F8 | c.1640G>A (p.Cys547Tyr) c.*1516G>A (n.*1516G>A) c.1535G>A (p.Cys512Tyr) | dbSNP |
| X | g.154957070A= | CA2466845348 | F8 | c.1639T= (p.Cys547=) c.*1515T= (n.*1515T=) c.1534T= (p.Cys512=) | |
| X | g.154957070A>C | CA414911873 | F8 | c.1639T>G (p.Cys547Gly) c.*1515T>G (n.*1515T>G) c.1534T>G (p.Cys512Gly) | |
| X | g.154957070A>G | CA414911874 | F8 | c.1639T>C (p.Cys547Arg) c.*1515T>C (n.*1515T>C) c.1534T>C (p.Cys512Arg) | ClinVar dbSNP |
| X | g.154957070A>T | CA10568426 | F8 | c.1639T>A (p.Cys547Ser) c.*1515T>A (n.*1515T>A) c.1534T>A (p.Cys512Ser) | dbSNP ExAC |
| X | g.154957071C>A | CA519358649 | F8 | c.1638G>T (p.Arg546=) c.*1514G>T (n.*1514G>T) c.1533G>T (p.Arg511=) | |
| X | g.154957071C= | CA2466845349 | F8 | c.1638G= (p.Arg546=) c.*1514G= (n.*1514G=) c.1533G= (p.Arg511=) | |
| X | g.154957071C>G | CA519358650 | F8 | c.1638G>C (p.Arg546=) c.*1514G>C (n.*1514G>C) c.1533G>C (p.Arg511=) | COSMIC COSMIC |
| X | g.154957071C>T | CA519358653 | F8 | c.1638G>A (p.Arg546=) c.*1514G>A (n.*1514G>A) c.1533G>A (p.Arg511=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154957072C>A | CA414911876 | F8 | c.1637G>T (p.Arg546Leu) c.*1513G>T (n.*1513G>T) c.1532G>T (p.Arg511Leu) | |
| X | g.154957072C= | CA2466845350 | F8 | c.1637G= (p.Arg546=) c.*1513G= (n.*1513G=) c.1532G= (p.Arg511=) | |
| X | g.154957072C>G | CA414911879 | F8 | c.1637G>C (p.Arg546Pro) c.*1513G>C (n.*1513G>C) c.1532G>C (p.Arg511Pro) | |
| X | g.154957072C>T | CA10568427 | F8 | c.1637G>A (p.Arg546Gln) c.*1513G>A (n.*1513G>A) c.1532G>A (p.Arg511Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154957073G>A | CA255112 | F8 | c.1636C>T (p.Arg546Trp) c.*1512C>T (n.*1512C>T) c.1531C>T (p.Arg511Trp) | ClinVar dbSNP gnomAD v4 |
| X | g.154957073G>C | CA414911881 | F8 | c.1636C>G (p.Arg546Gly) c.*1512C>G (n.*1512C>G) c.1531C>G (p.Arg511Gly) | |
| X | g.154957073G= | CA2466845351 | F8 | c.1636C= (p.Arg546=) c.*1512C= (n.*1512C=) c.1531C= (p.Arg511=) | |
| X | g.154957073G>T | CA519358660 | F8 | c.1636C>A (p.Arg546=) c.*1512C>A (n.*1512C>A) c.1531C>A (p.Arg511=) | dbSNP gnomAD v4 |
| X | g.154957074A>C | CA519358665 | F8 | c.1635T>G (p.Pro545=) c.*1511T>G (n.*1511T>G) c.1530T>G (p.Pro510=) | |
| X | g.154957074A>G | CA519358663 | F8 | c.1635T>C (p.Pro545=) c.*1511T>C (n.*1511T>C) c.1530T>C (p.Pro510=) | |
| X | g.154957074A>T | CA519358661 | F8 | c.1635T>A (p.Pro545=) c.*1511T>A (n.*1511T>A) c.1530T>A (p.Pro510=) | COSMIC COSMIC |
| X | g.154957075G>A | CA414911884 | F8 | c.1634C>T (p.Pro545Leu) c.*1510C>T (n.*1510C>T) c.1529C>T (p.Pro510Leu) | |
| X | g.154957075G>C | CA414911889 | F8 | c.1634C>G (p.Pro545Arg) c.*1510C>G (n.*1510C>G) c.1529C>G (p.Pro510Arg) | |
| X | g.154957075G>T | CA414911891 | F8 | c.1634C>A (p.Pro545His) c.*1510C>A (n.*1510C>A) c.1529C>A (p.Pro510His) | |
| X | g.154957076del | CA2695237257 | F8 | c.1634del (p.Pro545LeufsTer4) c.*1510del (n.*1510del) c.1529del (p.Pro510LeufsTer4) | |
| X | g.154957076G>A | CA414911893 | F8 | c.1633C>T (p.Pro545Ser) c.*1509C>T (n.*1509C>T) c.1528C>T (p.Pro510Ser) | |
| X | g.154957076G>C | CA414911894 | F8 | c.1633C>G (p.Pro545Ala) c.*1509C>G (n.*1509C>G) c.1528C>G (p.Pro510Ala) | |
| X | g.154957076G>T | CA414911896 | F8 | c.1633C>A (p.Pro545Thr) c.*1509C>A (n.*1509C>A) c.1528C>A (p.Pro510Thr) | |
| X | g.154957077A>C | CA414911898 | F8 | c.1632T>G (p.Asp544Glu) c.*1508T>G (n.*1508T>G) c.1527T>G (p.Asp509Glu) | |
| X | g.154957077A>G | CA519358672 | F8 | c.1632T>C (p.Asp544=) c.*1508T>C (n.*1508T>C) c.1527T>C (p.Asp509=) | |
| X | g.154957077A>T | CA414911899 | F8 | c.1632T>A (p.Asp544Glu) c.*1508T>A (n.*1508T>A) c.1527T>A (p.Asp509Glu) | |
| X | g.154957077_154957078del | CA2695237258 | F8 | c.1631_1632del (p.Asp544AlafsTer10) c.*1507_*1508del (n.*1507_*1508del) c.1526_1527del (p.Asp509AlafsTer10) | |
| X | g.154957078T>A | CA414911901 | F8 | c.1631A>T (p.Asp544Val) c.*1507A>T (n.*1507A>T) c.1526A>T (p.Asp509Val) | dbSNP |
| X | g.154957078T>C | CA414911903 | F8 | c.1631A>G (p.Asp544Gly) c.*1507A>G (n.*1507A>G) c.1526A>G (p.Asp509Gly) | |
| X | g.154957078T>G | CA414911902 | F8 | c.1631A>C (p.Asp544Ala) c.*1507A>C (n.*1507A>C) c.1526A>C (p.Asp509Ala) | |
| X | g.154957078T= | CA2466845352 | F8 | c.1631A= (p.Asp544=) c.*1507A= (n.*1507A=) c.1526A= (p.Asp509=) | |
| X | g.154957079C>A | CA414911904 | F8 | c.1630G>T (p.Asp544Tyr) c.*1506G>T (n.*1506G>T) c.1525G>T (p.Asp509Tyr) | |
| X | g.154957079C= | CA2466845353 | F8 | c.1630G= (p.Asp544=) c.*1506G= (n.*1506G=) c.1525G= (p.Asp509=) | |
| X | g.154957079C>G | CA414911905 | F8 | c.1630G>C (p.Asp544His) c.*1506G>C (n.*1506G>C) c.1525G>C (p.Asp509His) | |
| X | g.154957079C>T | CA255111 | F8 | c.1630G>A (p.Asp544Asn) c.*1506G>A (n.*1506G>A) c.1525G>A (p.Asp509Asn) | ClinVar dbSNP |
| X | g.154957080T>A | CA519358683 | F8 | c.1629A>T (p.Ser543=) c.*1505A>T (n.*1505A>T) c.1524A>T (p.Ser508=) | |
| X | g.154957080T>C | CA519358684 | F8 | c.1629A>G (p.Ser543=) c.*1505A>G (n.*1505A>G) c.1524A>G (p.Ser508=) | |
| X | g.154957080T>G | CA519358687 | F8 | c.1629A>C (p.Ser543=) c.*1505A>C (n.*1505A>C) c.1524A>C (p.Ser508=) | |
| X | g.154957081_154957084dup | CA2695237259 | F8 | c.1626_1629dup (p.Asp544IlefsTer12) c.*1502_*1505dup (n.*1502_*1505dup) c.1521_1524dup (p.Asp509IlefsTer12) | |
| X | g.154957081G>A | CA414911906 | F8 | c.1628C>T (p.Ser543Leu) c.*1504C>T (n.*1504C>T) c.1523C>T (p.Ser508Leu) | gnomAD v4 |
| X | g.154957081G>C | CA414911908 | F8 | c.1628C>G (p.Ser543Ter) c.*1504C>G (n.*1504C>G) c.1523C>G (p.Ser508Ter) | |
| X | g.154957081G>T | CA414911907 | F8 | c.1628C>A (p.Ser543Ter) c.*1504C>A (n.*1504C>A) c.1523C>A (p.Ser508Ter) | |
| X | g.154957082del | CA2695237260 | F8 | c.1627del (p.Ser543GlnfsTer6) c.*1503del (n.*1503del) c.1522del (p.Ser508GlnfsTer6) | |
| X | g.154957082A>C | CA414911909 | F8 | c.1627T>G (p.Ser543Ala) c.*1503T>G (n.*1503T>G) c.1522T>G (p.Ser508Ala) | |
| X | g.154957082A>G | CA414911913 | F8 | c.1627T>C (p.Ser543Pro) c.*1503T>C (n.*1503T>C) c.1522T>C (p.Ser508Pro) | |
| X | g.154957082A>T | CA414911915 | F8 | c.1627T>A (p.Ser543Thr) c.*1503T>A (n.*1503T>A) c.1522T>A (p.Ser508Thr) | |
| X | g.154957083T>A | CA414911916 | F8 | c.1626A>T (p.Lys542Asn) c.*1502A>T (n.*1502A>T) c.1521A>T (p.Lys507Asn) | |
| X | g.154957083T>C | CA519358697 | F8 | c.1626A>G (p.Lys542=) c.*1502A>G (n.*1502A>G) c.1521A>G (p.Lys507=) | |
| X | g.154957083T>G | CA414911918 | F8 | c.1626A>C (p.Lys542Asn) c.*1502A>C (n.*1502A>C) c.1521A>C (p.Lys507Asn) | |
| X | g.154957084T>A | CA414911925 | F8 | c.1625A>T (p.Lys542Ile) c.*1501A>T (n.*1501A>T) c.1520A>T (p.Lys507Ile) | |
| X | g.154957084T>C | CA414911926 | F8 | c.1625A>G (p.Lys542Arg) c.*1501A>G (n.*1501A>G) c.1520A>G (p.Lys507Arg) | |
| X | g.154957084T>G | CA414911927 | F8 | c.1625A>C (p.Lys542Thr) c.*1501A>C (n.*1501A>C) c.1520A>C (p.Lys507Thr) | |
| X | g.154957085T>A | CA414911928 | F8 | c.1624A>T (p.Lys542Ter) c.*1500A>T (n.*1500A>T) c.1519A>T (p.Lys507Ter) | |
| X | g.154957085T>C | CA414911930 | F8 | c.1624A>G (p.Lys542Glu) c.*1500A>G (n.*1500A>G) c.1519A>G (p.Lys507Glu) | |
| X | g.154957085T>G | CA414911931 | F8 | c.1624A>C (p.Lys542Gln) c.*1500A>C (n.*1500A>C) c.1519A>C (p.Lys507Gln) |