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 |
|---|---|---|---|---|---|
| 6 | g.6174730_6174732delinsCTT | CA1607969947 | F13A1 | c.1595_1597delinsAAG (p.Lys532=) c.1757_1759delinsAAG (p.Lys586=) | |
| 6 | g.6174734dup | CA2769868355 | F13A1 | c.1596dup (p.Asp533ArgfsTer?) c.1758dup (p.Asp587ArgfsTer?) | |
| 6 | g.6174734del | CA2677190595 | F13A1 | c.1596del (p.Asp533ThrfsTer?) c.1758del (p.Asp587ThrfsTer?) | gnomAD v4 |
| 6 | g.6174733_6174734del | CA3624302 | F13A1 | c.1595_1596del (p.Lys532ArgfsTer?) c.1757_1758del (p.Lys586ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174732T>A | CA362661835 | F13A1 | c.1595A>T (p.Lys532Ile) c.1757A>T (p.Lys586Ile) | |
| 6 | g.6174732T>C | CA362661838 | F13A1 | c.1595A>G (p.Lys532Arg) c.1757A>G (p.Lys586Arg) | |
| 6 | g.6174732T>G | CA362661840 | F13A1 | c.1595A>C (p.Lys532Thr) c.1757A>C (p.Lys586Thr) | |
| 6 | g.6174733T>A | CA362661844 | F13A1 | c.1594A>T (p.Lys532Ter) c.1756A>T (p.Lys586Ter) | |
| 6 | g.6174733T>C | CA133914467 | F13A1 | c.1594A>G (p.Lys532Glu) c.1756A>G (p.Lys586Glu) | dbSNP |
| 6 | g.6174733T>G | CA362661848 | F13A1 | c.1594A>C (p.Lys532Gln) c.1756A>C (p.Lys586Gln) | |
| 6 | g.6174733T= | CA1607969948 | F13A1 | c.1594A= (p.Lys532=) c.1756A= (p.Lys586=) | |
| 6 | g.6174734T>A | CA448499321 | F13A1 | c.1593A>T (p.Gly531=) c.1755A>T (p.Gly585=) | |
| 6 | g.6174734T>C | CA448499322 | F13A1 | c.1593A>G (p.Gly531=) c.1755A>G (p.Gly585=) | |
| 6 | g.6174734T>G | CA448499323 | F13A1 | c.1593A>C (p.Gly531=) c.1755A>C (p.Gly585=) | |
| 6 | g.6174735C>A | CA362661852 | F13A1 | c.1592G>T (p.Gly531Val) c.1754G>T (p.Gly585Val) | |
| 6 | g.6174735C>G | CA362661855 | F13A1 | c.1592G>C (p.Gly531Ala) c.1754G>C (p.Gly585Ala) | |
| 6 | g.6174735C>T | CA362661858 | F13A1 | c.1592G>A (p.Gly531Glu) c.1754G>A (p.Gly585Glu) | |
| 6 | g.6174736C>A | CA362661867 | F13A1 | c.1591G>T (p.Gly531Ter) c.1753G>T (p.Gly585Ter) | |
| 6 | g.6174736C>G | CA362661865 | F13A1 | c.1591G>C (p.Gly531Arg) c.1753G>C (p.Gly585Arg) | |
| 6 | g.6174736C>T | CA362661862 | F13A1 | c.1591G>A (p.Gly531Arg) c.1753G>A (p.Gly585Arg) | gnomAD v4 |
| 6 | g.6174737C>A | CA448499324 | F13A1 | c.1590G>T (p.Leu530=) c.1752G>T (p.Leu584=) | |
| 6 | g.6174737C= | CA1607969949 | F13A1 | c.1590G= (p.Leu530=) c.1752G= (p.Leu584=) | |
| 6 | g.6174737C>G | CA448499326 | F13A1 | c.1590G>C (p.Leu530=) c.1752G>C (p.Leu584=) | |
| 6 | g.6174737C>T | CA448499325 | F13A1 | c.1590G>A (p.Leu530=) c.1752G>A (p.Leu584=) | dbSNP gnomAD v4 |
| 6 | g.6174738A>C | CA362661871 | F13A1 | c.1589T>G (p.Leu530Arg) c.1751T>G (p.Leu584Arg) | |
| 6 | g.6174738A>G | CA362661874 | F13A1 | c.1589T>C (p.Leu530Pro) c.1751T>C (p.Leu584Pro) | |
| 6 | g.6174738A>T | CA362661873 | F13A1 | c.1589T>A (p.Leu530Gln) c.1751T>A (p.Leu584Gln) | |
| 6 | g.6174739G>A | CA448499327 | F13A1 | c.1588C>T (p.Leu530=) c.1750C>T (p.Leu584=) | |
| 6 | g.6174739G>C | CA362661876 | F13A1 | c.1588C>G (p.Leu530Val) c.1750C>G (p.Leu584Val) | |
| 6 | g.6174739G>T | CA362661881 | F13A1 | c.1588C>A (p.Leu530Met) c.1750C>A (p.Leu584Met) | |
| 6 | g.6174740C>A | CA448499328 | F13A1 | c.1587G>T (p.Val529=) c.1749G>T (p.Val583=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6174740C= | CA1607969950 | F13A1 | c.1587G= (p.Val529=) c.1749G= (p.Val583=) | |
| 6 | g.6174740C>G | CA448499329 | F13A1 | c.1587G>C (p.Val529=) c.1749G>C (p.Val583=) | |
| 6 | g.6174740C>T | CA3624303 | F13A1 | c.1587G>A (p.Val529=) c.1749G>A (p.Val583=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174741A= | CA1607969951 | F13A1 | c.1586T= (p.Val529=) c.1748T= (p.Val583=) | |
| 6 | g.6174741A>C | CA362661887 | F13A1 | c.1586T>G (p.Val529Gly) c.1748T>G (p.Val583Gly) | |
| 6 | g.6174741A>G | CA362661889 | F13A1 | c.1586T>C (p.Val529Ala) c.1748T>C (p.Val583Ala) | dbSNP |
| 6 | g.6174741A>T | CA362661893 | F13A1 | c.1586T>A (p.Val529Glu) c.1748T>A (p.Val583Glu) | |
| 6 | g.6174742C>A | CA362661897 | F13A1 | c.1585G>T (p.Val529Leu) c.1747G>T (p.Val583Leu) | |
| 6 | g.6174742C>G | CA362661899 | F13A1 | c.1585G>C (p.Val529Leu) c.1747G>C (p.Val583Leu) | |
| 6 | g.6174742C>T | CA362661902 | F13A1 | c.1585G>A (p.Val529Met) c.1747G>A (p.Val583Met) | gnomAD v4 |
| 6 | g.6174743A>C | CA448499330 | F13A1 | c.1584T>G (p.Ala528=) c.1746T>G (p.Ala582=) | |
| 6 | g.6174743A>G | CA448499331 | F13A1 | c.1584T>C (p.Ala528=) c.1746T>C (p.Ala582=) | gnomAD v4 |
| 6 | g.6174743A>T | CA448499332 | F13A1 | c.1584T>A (p.Ala528=) c.1746T>A (p.Ala582=) | |
| 6 | g.6174744G>A | CA362661905 | F13A1 | c.1583C>T (p.Ala528Val) c.1745C>T (p.Ala582Val) | |
| 6 | g.6174744G>C | CA362661907 | F13A1 | c.1583C>G (p.Ala528Gly) c.1745C>G (p.Ala582Gly) | |
| 6 | g.6174744G>T | CA362661910 | F13A1 | c.1583C>A (p.Ala528Asp) c.1745C>A (p.Ala582Asp) | |
| 6 | g.6174745C>A | CA362661913 | F13A1 | c.1582G>T (p.Ala528Ser) c.1744G>T (p.Ala582Ser) | gnomAD v4 |
| 6 | g.6174745C>G | CA362661918 | F13A1 | c.1582G>C (p.Ala528Pro) c.1744G>C (p.Ala582Pro) | |
| 6 | g.6174745C>T | CA362661915 | F13A1 | c.1582G>A (p.Ala528Thr) c.1744G>A (p.Ala582Thr) | |
| 6 | g.6174746A= | CA1607969952 | F13A1 | c.1581T= (p.Asn527=) c.1743T= (p.Asn581=) | |
| 6 | g.6174746A>C | CA362661921 | F13A1 | c.1581T>G (p.Asn527Lys) c.1743T>G (p.Asn581Lys) | |
| 6 | g.6174746A>G | CA448499333 | F13A1 | c.1581T>C (p.Asn527=) c.1743T>C (p.Asn581=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174746A>T | CA362661923 | F13A1 | c.1581T>A (p.Asn527Lys) c.1743T>A (p.Asn581Lys) | |
| 6 | g.6174747T>A | CA362661926 | F13A1 | c.1580A>T (p.Asn527Ile) c.1742A>T (p.Asn581Ile) | |
| 6 | g.6174747T>C | CA362661928 | F13A1 | c.1580A>G (p.Asn527Ser) c.1742A>G (p.Asn581Ser) | gnomAD v4 |
| 6 | g.6174747T>G | CA362661931 | F13A1 | c.1580A>C (p.Asn527Thr) c.1742A>C (p.Asn581Thr) | |
| 6 | g.6174748T>A | CA362661935 | F13A1 | c.1579A>T (p.Asn527Tyr) c.1741A>T (p.Asn581Tyr) | |
| 6 | g.6174748T>C | CA362661938 | F13A1 | c.1579A>G (p.Asn527Asp) c.1741A>G (p.Asn581Asp) | |
| 6 | g.6174748T>G | CA362661941 | F13A1 | c.1579A>C (p.Asn527His) c.1741A>C (p.Asn581His) | |
| 6 | g.6174749T>A | CA362661945 | F13A1 | c.1578A>T (p.Glu526Asp) c.1740A>T (p.Glu580Asp) | |
| 6 | g.6174749T>C | CA448499334 | F13A1 | c.1578A>G (p.Glu526=) c.1740A>G (p.Glu580=) | |
| 6 | g.6174749T>G | CA362661946 | F13A1 | c.1578A>C (p.Glu526Asp) c.1740A>C (p.Glu580Asp) | |
| 6 | g.6174750T>A | CA362661956 | F13A1 | c.1577A>T (p.Glu526Val) c.1739A>T (p.Glu580Val) | |
| 6 | g.6174750T>C | CA362661958 | F13A1 | c.1577A>G (p.Glu526Gly) c.1739A>G (p.Glu580Gly) | |
| 6 | g.6174750T>G | CA362661953 | F13A1 | c.1577A>C (p.Glu526Ala) c.1739A>C (p.Glu580Ala) | |
| 6 | g.6174751C>A | CA362661961 | F13A1 | c.1576G>T (p.Glu526Ter) c.1738G>T (p.Glu580Ter) | |
| 6 | g.6174751C= | CA1607969953 | F13A1 | c.1576G= (p.Glu526=) c.1738G= (p.Glu580=) | |
| 6 | g.6174751C>G | CA362661964 | F13A1 | c.1576G>C (p.Glu526Gln) c.1738G>C (p.Glu580Gln) | gnomAD v4 |
| 6 | g.6174751C>T | CA133914486 | F13A1 | c.1576G>A (p.Glu526Lys) c.1738G>A (p.Glu580Lys) | dbSNP |
| 6 | g.6174752C>A | CA448499335 | F13A1 | c.1575G>T (p.Val525=) c.1737G>T (p.Val579=) | |
| 6 | g.6174752C= | CA1607969954 | F13A1 | c.1575G= (p.Val525=) c.1737G= (p.Val579=) | |
| 6 | g.6174752C>G | CA448499336 | F13A1 | c.1575G>C (p.Val525=) c.1737G>C (p.Val579=) | |
| 6 | g.6174752C>T | CA3624304 | F13A1 | c.1575G>A (p.Val525=) c.1737G>A (p.Val579=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.6174753A= | CA1607969955 | F13A1 | c.1574T= (p.Val525=) c.1736T= (p.Val579=) | |
| 6 | g.6174753A>C | CA362661971 | F13A1 | c.1574T>G (p.Val525Gly) c.1736T>G (p.Val579Gly) | |
| 6 | g.6174753A>G | CA3624305 | F13A1 | c.1574T>C (p.Val525Ala) c.1736T>C (p.Val579Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174753A>T | CA362661976 | F13A1 | c.1574T>A (p.Val525Glu) c.1736T>A (p.Val579Glu) | |
| 6 | g.6174754C>A | CA362661978 | F13A1 | c.1573G>T (p.Val525Leu) c.1735G>T (p.Val579Leu) | |
| 6 | g.6174754C= | CA1607969956 | F13A1 | c.1573G= (p.Val525=) c.1735G= (p.Val579=) | |
| 6 | g.6174754C>G | CA362661982 | F13A1 | c.1573G>C (p.Val525Leu) c.1735G>C (p.Val579Leu) | |
| 6 | g.6174754C>T | CA133914491 | F13A1 | c.1573G>A (p.Val525Met) c.1735G>A (p.Val579Met) | dbSNP |
| 6 | g.6174755T>A | CA362661988 | F13A1 | c.1572A>T (p.Glu524Asp) c.1734A>T (p.Glu578Asp) | |
| 6 | g.6174755T>C | CA448499337 | F13A1 | c.1572A>G (p.Glu524=) c.1734A>G (p.Glu578=) | |
| 6 | g.6174755T>G | CA362661991 | F13A1 | c.1572A>C (p.Glu524Asp) c.1734A>C (p.Glu578Asp) | |
| 6 | g.6174756T>A | CA362661998 | F13A1 | c.1571A>T (p.Glu524Val) c.1733A>T (p.Glu578Val) | |
| 6 | g.6174756T>C | CA362662000 | F13A1 | c.1571A>G (p.Glu524Gly) c.1733A>G (p.Glu578Gly) | |
| 6 | g.6174756T>G | CA362661995 | F13A1 | c.1571A>C (p.Glu524Ala) c.1733A>C (p.Glu578Ala) | |
| 6 | g.6174757C>A | CA362662003 | F13A1 | c.1570G>T (p.Glu524Ter) c.1732G>T (p.Glu578Ter) | |
| 6 | g.6174757C= | CA1607969957 | F13A1 | c.1570G= (p.Glu524=) c.1732G= (p.Glu578=) | |
| 6 | g.6174757C>G | CA362662005 | F13A1 | c.1570G>C (p.Glu524Gln) c.1732G>C (p.Glu578Gln) | |
| 6 | g.6174757C>T | CA362662008 | F13A1 | c.1570G>A (p.Glu524Lys) c.1732G>A (p.Glu578Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174758A= | CA1607969958 | F13A1 | c.1569T= (p.Phe523=) c.1731T= (p.Phe577=) | |
| 6 | g.6174758A>C | CA362662011 | F13A1 | c.1569T>G (p.Phe523Leu) c.1731T>G (p.Phe577Leu) | dbSNP |
| 6 | g.6174758A>G | CA448499338 | F13A1 | c.1569T>C (p.Phe523=) c.1731T>C (p.Phe577=) | |
| 6 | g.6174758A>T | CA362662013 | F13A1 | c.1569T>A (p.Phe523Leu) c.1731T>A (p.Phe577Leu) | |
| 6 | g.6174759A>C | CA362662023 | F13A1 | c.1568T>G (p.Phe523Cys) c.1730T>G (p.Phe577Cys) | |
| 6 | g.6174759A>G | CA362662019 | F13A1 | c.1568T>C (p.Phe523Ser) c.1730T>C (p.Phe577Ser) | |
| 6 | g.6174759A>T | CA362662017 | F13A1 | c.1568T>A (p.Phe523Tyr) c.1730T>A (p.Phe577Tyr) | |
| 6 | g.6174760A>C | CA362662026 | F13A1 | c.1567T>G (p.Phe523Val) c.1729T>G (p.Phe577Val) | |
| 6 | g.6174760A>G | CA362662027 | F13A1 | c.1567T>C (p.Phe523Leu) c.1729T>C (p.Phe577Leu) | |
| 6 | g.6174760A>T | CA362662029 | F13A1 | c.1567T>A (p.Phe523Ile) c.1729T>A (p.Phe577Ile) | |
| 6 | g.6174761G>A | CA3624306 | F13A1 | c.1566C>T (p.Asp522=) c.1728C>T (p.Asp576=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174761G>C | CA362662033 | F13A1 | c.1566C>G (p.Asp522Glu) c.1728C>G (p.Asp576Glu) | |
| 6 | g.6174761G= | CA1607969959 | F13A1 | c.1566C= (p.Asp522=) c.1728C= (p.Asp576=) | |
| 6 | g.6174761G>T | CA362662035 | F13A1 | c.1566C>A (p.Asp522Glu) c.1728C>A (p.Asp576Glu) | |
| 6 | g.6174762T>A | CA362662040 | F13A1 | c.1565A>T (p.Asp522Val) c.1727A>T (p.Asp576Val) | |
| 6 | g.6174762T>C | CA362662046 | F13A1 | c.1565A>G (p.Asp522Gly) c.1727A>G (p.Asp576Gly) | |
| 6 | g.6174762T>G | CA362662043 | F13A1 | c.1565A>C (p.Asp522Ala) c.1727A>C (p.Asp576Ala) | |
| 6 | g.6174763C>A | CA362662050 | F13A1 | c.1564G>T (p.Asp522Tyr) c.1726G>T (p.Asp576Tyr) | |
| 6 | g.6174763C>G | CA362662056 | F13A1 | c.1564G>C (p.Asp522His) c.1726G>C (p.Asp576His) | |
| 6 | g.6174763C>T | CA362662052 | F13A1 | c.1564G>A (p.Asp522Asn) c.1726G>A (p.Asp576Asn) | |
| 6 | g.6174764C>A | CA362662060 | F13A1 | c.1563G>T (p.Met521Ile) c.1725G>T (p.Met575Ile) | |
| 6 | g.6174764C>G | CA362662064 | F13A1 | c.1563G>C (p.Met521Ile) c.1725G>C (p.Met575Ile) | |
| 6 | g.6174764C>T | CA362662062 | F13A1 | c.1563G>A (p.Met521Ile) c.1725G>A (p.Met575Ile) | |
| 6 | g.6174765A= | CA1607969960 | F13A1 | c.1562T= (p.Met521=) c.1724T= (p.Met575=) | |
| 6 | g.6174765A>C | CA362662068 | F13A1 | c.1562T>G (p.Met521Arg) c.1724T>G (p.Met575Arg) | |
| 6 | g.6174765A>G | CA362662074 | F13A1 | c.1562T>C (p.Met521Thr) c.1724T>C (p.Met575Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6174765A>T | CA362662071 | F13A1 | c.1562T>A (p.Met521Lys) c.1724T>A (p.Met575Lys) | |
| 6 | g.6174766T>A | CA362662078 | F13A1 | c.1561A>T (p.Met521Leu) c.1723A>T (p.Met575Leu) | |
| 6 | g.6174766T>C | CA362662083 | F13A1 | c.1561A>G (p.Met521Val) c.1723A>G (p.Met575Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174766T>G | CA3624307 | F13A1 | c.1561A>C (p.Met521Leu) c.1723A>C (p.Met575Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174766T= | CA1607969961 | F13A1 | c.1561A= (p.Met521=) c.1723A= (p.Met575=) | |
| 6 | g.6174767G>A | CA448499339 | F13A1 | c.1560C>T (p.Asp520=) c.1722C>T (p.Asp574=) | |
| 6 | g.6174767G>C | CA362662086 | F13A1 | c.1560C>G (p.Asp520Glu) c.1722C>G (p.Asp574Glu) | |
| 6 | g.6174767G>T | CA362662089 | F13A1 | c.1560C>A (p.Asp520Glu) c.1722C>A (p.Asp574Glu) | |
| 6 | g.6174768T>A | CA362662092 | F13A1 | c.1559A>T (p.Asp520Val) c.1721A>T (p.Asp574Val) | |
| 6 | g.6174768T>C | CA362662095 | F13A1 | c.1559A>G (p.Asp520Gly) c.1721A>G (p.Asp574Gly) | |
| 6 | g.6174768T>G | CA362662098 | F13A1 | c.1559A>C (p.Asp520Ala) c.1721A>C (p.Asp574Ala) | |
| 6 | g.6174769C>A | CA362662101 | F13A1 | c.1558G>T (p.Asp520Tyr) c.1720G>T (p.Asp574Tyr) | COSMIC |
| 6 | g.6174769C= | CA1607969962 | F13A1 | c.1558G= (p.Asp520=) c.1720G= (p.Asp574=) | |
| 6 | g.6174769C>G | CA362662104 | F13A1 | c.1558G>C (p.Asp520His) c.1720G>C (p.Asp574His) | |
| 6 | g.6174769C>T | CA133914517 | F13A1 | c.1558G>A (p.Asp520Asn) c.1720G>A (p.Asp574Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174770A>C | CA448499340 | F13A1 | c.1557T>G (p.Val519=) c.1719T>G (p.Val573=) | |
| 6 | g.6174770A>G | CA448499341 | F13A1 | c.1557T>C (p.Val519=) c.1719T>C (p.Val573=) | |
| 6 | g.6174770A>T | CA448499342 | F13A1 | c.1557T>A (p.Val519=) c.1719T>A (p.Val573=) | |
| 6 | g.6174771A= | CA1607969963 | F13A1 | c.1556T= (p.Val519=) c.1718T= (p.Val573=) | |
| 6 | g.6174771A>C | CA362662110 | F13A1 | c.1556T>G (p.Val519Gly) c.1718T>G (p.Val573Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6174771A>G | CA362662111 | F13A1 | c.1556T>C (p.Val519Ala) c.1718T>C (p.Val573Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174771A>T | CA362662115 | F13A1 | c.1556T>A (p.Val519Asp) c.1718T>A (p.Val573Asp) | |
| 6 | g.6174772C>A | CA362662124 | F13A1 | c.1555G>T (p.Val519Phe) c.1717G>T (p.Val573Phe) | |
| 6 | g.6174772C= | CA1607969964 | F13A1 | c.1555G= (p.Val519=) c.1717G= (p.Val573=) | |
| 6 | g.6174772C>G | CA362662121 | F13A1 | c.1555G>C (p.Val519Leu) c.1717G>C (p.Val573Leu) | |
| 6 | g.6174772C>T | CA3624308 | F13A1 | c.1555G>A (p.Val519Ile) c.1717G>A (p.Val573Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.6174773G>A | CA3624309 | F13A1 | c.1554C>T (p.Asn518=) c.1716C>T (p.Asn572=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174773G>C | CA362662131 | F13A1 | c.1554C>G (p.Asn518Lys) c.1716C>G (p.Asn572Lys) | gnomAD v4 |
| 6 | g.6174773G= | CA1607969965 | F13A1 | c.1554C= (p.Asn518=) c.1716C= (p.Asn572=) | |
| 6 | g.6174773G>T | CA362662134 | F13A1 | c.1554C>A (p.Asn518Lys) c.1716C>A (p.Asn572Lys) | gnomAD v4 |
| 6 | g.6174774T>A | CA362662138 | F13A1 | c.1553A>T (p.Asn518Ile) c.1715A>T (p.Asn572Ile) | gnomAD v4 |
| 6 | g.6174774T>C | CA3624310 | F13A1 | c.1553A>G (p.Asn518Ser) c.1715A>G (p.Asn572Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174774T>G | CA362662141 | F13A1 | c.1553A>C (p.Asn518Thr) c.1715A>C (p.Asn572Thr) | |
| 6 | g.6174774T= | CA1607969966 | F13A1 | c.1553A= (p.Asn518=) c.1715A= (p.Asn572=) | |
| 6 | g.6174775T>A | CA362662148 | F13A1 | c.1552A>T (p.Asn518Tyr) c.1714A>T (p.Asn572Tyr) | |
| 6 | g.6174775T>C | CA362662150 | F13A1 | c.1552A>G (p.Asn518Asp) c.1714A>G (p.Asn572Asp) | gnomAD v4 |
| 6 | g.6174775T>G | CA3624311 | F13A1 | c.1552A>C (p.Asn518His) c.1714A>C (p.Asn572His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174775T= | CA1607969967 | F13A1 | c.1552A= (p.Asn518=) c.1714A= (p.Asn572=) | |
| 6 | g.6174776G>A | CA3624312 | F13A1 | c.1551C>T (p.Ser517=) c.1713C>T (p.Ser571=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174776G>C | CA448499343 | F13A1 | c.1551C>G (p.Ser517=) c.1713C>G (p.Ser571=) | gnomAD v4 |
| 6 | g.6174776G= | CA1607969968 | F13A1 | c.1551C= (p.Ser517=) c.1713C= (p.Ser571=) | |
| 6 | g.6174776G>T | CA448499344 | F13A1 | c.1551C>A (p.Ser517=) c.1713C>A (p.Ser571=) | COSMIC |
| 6 | g.6174777G>A | CA362662157 | F13A1 | c.1550C>T (p.Ser517Phe) c.1712C>T (p.Ser571Phe) | COSMIC |
| 6 | g.6174777G>C | CA362662158 | F13A1 | c.1550C>G (p.Ser517Cys) c.1712C>G (p.Ser571Cys) | |
| 6 | g.6174777G>T | CA362662155 | F13A1 | c.1550C>A (p.Ser517Tyr) c.1712C>A (p.Ser571Tyr) | |
| 6 | g.6174778A>C | CA362662160 | F13A1 | c.1549T>G (p.Ser517Ala) c.1711T>G (p.Ser571Ala) | gnomAD v4 |
| 6 | g.6174778A>G | CA362662163 | F13A1 | c.1549T>C (p.Ser517Pro) c.1711T>C (p.Ser571Pro) | |
| 6 | g.6174778A>T | CA362662164 | F13A1 | c.1549T>A (p.Ser517Thr) c.1711T>A (p.Ser571Thr) | |
| 6 | g.6174779C>A | CA3624313 | F13A1 | c.1548G>T (p.Arg516Ser) c.1710G>T (p.Arg570Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174779C= | CA1607969969 | F13A1 | c.1548G= (p.Arg516=) c.1710G= (p.Arg570=) | |
| 6 | g.6174779C>G | CA362662167 | F13A1 | c.1548G>C (p.Arg516Ser) c.1710G>C (p.Arg570Ser) | |
| 6 | g.6174779C>T | CA448499345 | F13A1 | c.1548G>A (p.Arg516=) c.1710G>A (p.Arg570=) | |
| 6 | g.6174780C>A | CA362662170 | F13A1 | c.1547G>T (p.Arg516Met) c.1709G>T (p.Arg570Met) | |
| 6 | g.6174780C= | CA1607969970 | F13A1 | c.1547G= (p.Arg516=) c.1709G= (p.Arg570=) | |
| 6 | g.6174780C>G | CA362662172 | F13A1 | c.1547G>C (p.Arg516Thr) c.1709G>C (p.Arg570Thr) | gnomAD v4 |
| 6 | g.6174780C>T | CA3624314 | F13A1 | c.1547G>A (p.Arg516Lys) c.1709G>A (p.Arg570Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174781T>A | CA362662176 | F13A1 | c.1546A>T (p.Arg516Trp) c.1708A>T (p.Arg570Trp) | |
| 6 | g.6174781T>C | CA3624315 | F13A1 | c.1546A>G (p.Arg516Gly) c.1708A>G (p.Arg570Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174781T>G | CA448499346 | F13A1 | c.1546A>C (p.Arg516=) c.1708A>C (p.Arg570=) | |
| 6 | g.6174781T= | CA1607969971 | F13A1 | c.1546A= (p.Arg516=) c.1708A= (p.Arg570=) | |
| 6 | g.6174782T>A | CA448499347 | F13A1 | c.1545A>T (p.Ser515=) c.1707A>T (p.Ser569=) | |
| 6 | g.6174782T>C | CA3624316 | F13A1 | c.1545A>G (p.Ser515=) c.1707A>G (p.Ser569=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174782T>G | CA448499348 | F13A1 | c.1545A>C (p.Ser515=) c.1707A>C (p.Ser569=) | dbSNP |
| 6 | g.6174782T= | CA1607969972 | F13A1 | c.1545A= (p.Ser515=) c.1707A= (p.Ser569=) | |
| 6 | g.6174783G>A | CA362662182 | F13A1 | c.1544C>T (p.Ser515Leu) c.1706C>T (p.Ser569Leu) | |
| 6 | g.6174783G>C | CA362662184 | F13A1 | c.1544C>G (p.Ser515Ter) c.1706C>G (p.Ser569Ter) | |
| 6 | g.6174783G>T | CA362662180 | F13A1 | c.1544C>A (p.Ser515Ter) c.1706C>A (p.Ser569Ter) | gnomAD v4 |
| 6 | g.6174784A= | CA1607969973 | F13A1 | c.1543T= (p.Ser515=) c.1705T= (p.Ser569=) | |
| 6 | g.6174784A>C | CA362662187 | F13A1 | c.1543T>G (p.Ser515Ala) c.1705T>G (p.Ser569Ala) | |
| 6 | g.6174784A>G | CA3624317 | F13A1 | c.1543T>C (p.Ser515Pro) c.1705T>C (p.Ser569Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174784A>T | CA362662189 | F13A1 | c.1543T>A (p.Ser515Thr) c.1705T>A (p.Ser569Thr) | |
| 6 | g.6174785T>A | CA362662192 | F13A1 | c.1542A>T (p.Lys514Asn) c.1704A>T (p.Lys568Asn) | |
| 6 | g.6174785T>C | CA448499349 | F13A1 | c.1542A>G (p.Lys514=) c.1704A>G (p.Lys568=) | |
| 6 | g.6174785T>G | CA362662194 | F13A1 | c.1542A>C (p.Lys514Asn) c.1704A>C (p.Lys568Asn) | |
| 6 | g.6174786T>A | CA362662201 | F13A1 | c.1541A>T (p.Lys514Ile) c.1703A>T (p.Lys568Ile) | |
| 6 | g.6174786T>C | CA362662196 | F13A1 | c.1541A>G (p.Lys514Arg) c.1703A>G (p.Lys568Arg) | dbSNP |
| 6 | g.6174786T>G | CA362662199 | F13A1 | c.1541A>C (p.Lys514Thr) c.1703A>C (p.Lys568Thr) | dbSNP COSMIC |
| 6 | g.6174787T>A | CA362662203 | F13A1 | c.1540A>T (p.Lys514Ter) c.1702A>T (p.Lys568Ter) | |
| 6 | g.6174787T>C | CA362662206 | F13A1 | c.1540A>G (p.Lys514Glu) c.1702A>G (p.Lys568Glu) | |
| 6 | g.6174787T>G | CA362662208 | F13A1 | c.1540A>C (p.Lys514Gln) c.1702A>C (p.Lys568Gln) | |
| 6 | g.6174788C>A | CA362662210 | F13A1 | c.1539G>T (p.Met513Ile) c.1701G>T (p.Met567Ile) | dbSNP |
| 6 | g.6174788C= | CA1607969974 | F13A1 | c.1539G= (p.Met513=) c.1701G= (p.Met567=) | |
| 6 | g.6174788C>G | CA362662212 | F13A1 | c.1539G>C (p.Met513Ile) c.1701G>C (p.Met567Ile) | |
| 6 | g.6174788C>T | CA362662214 | F13A1 | c.1539G>A (p.Met513Ile) c.1701G>A (p.Met567Ile) | COSMIC |
| 6 | g.6174789A= | CA1607969975 | F13A1 | c.1538T= (p.Met513=) c.1700T= (p.Met567=) | |
| 6 | g.6174789A>C | CA362662221 | F13A1 | c.1538T>G (p.Met513Arg) c.1700T>G (p.Met567Arg) | |
| 6 | g.6174789A>G | CA362662219 | F13A1 | c.1538T>C (p.Met513Thr) c.1700T>C (p.Met567Thr) | |
| 6 | g.6174789A>T | CA362662217 | F13A1 | c.1538T>A (p.Met513Lys) c.1700T>A (p.Met567Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174789_6174790insCTTTGGCAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATAG | CA2677190596 | F13A1 | c.1537_1538insCTATGTTGGCCAGGCTGATCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTGCCAAAG (p.Met513ThrfsTer11) c.1699_1700insCTATGTTGGCCAGGCTGATCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTGCCAAAG (p.Met567ThrfsTer11) | gnomAD v4 |
| 6 | g.6174790T>A | CA362662225 | F13A1 | c.1537A>T (p.Met513Leu) c.1699A>T (p.Met567Leu) | |
| 6 | g.6174790T>C | CA362662224 | F13A1 | c.1537A>G (p.Met513Val) c.1699A>G (p.Met567Val) | dbSNP gnomAD v4 |
| 6 | g.6174790T>G | CA3624318 | F13A1 | c.1537A>C (p.Met513Leu) c.1699A>C (p.Met567Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174790T= | CA1607969976 | F13A1 | c.1537A= (p.Met513=) c.1699A= (p.Met567=) | |
| 6 | g.6174791G>A | CA448499350 | F13A1 | c.1536C>T (p.Val512=) c.1698C>T (p.Val566=) | |
| 6 | g.6174791G>C | CA448499351 | F13A1 | c.1536C>G (p.Val512=) c.1698C>G (p.Val566=) | |
| 6 | g.6174791G>T | CA448499352 | F13A1 | c.1536C>A (p.Val512=) c.1698C>A (p.Val566=) | |
| 6 | g.6174792A>C | CA362662228 | F13A1 | c.1535T>G (p.Val512Gly) c.1697T>G (p.Val566Gly) | |
| 6 | g.6174792A>G | CA362662230 | F13A1 | c.1535T>C (p.Val512Ala) c.1697T>C (p.Val566Ala) | |
| 6 | g.6174792A>T | CA362662232 | F13A1 | c.1535T>A (p.Val512Asp) c.1697T>A (p.Val566Asp) | |
| 6 | g.6174793C>A | CA362662234 | F13A1 | c.1534G>T (p.Val512Phe) c.1696G>T (p.Val566Phe) | |
| 6 | g.6174793C= | CA1607969977 | F13A1 | c.1534G= (p.Val512=) c.1696G= (p.Val566=) | |
| 6 | g.6174793C>G | CA362662235 | F13A1 | c.1534G>C (p.Val512Leu) c.1696G>C (p.Val566Leu) | |
| 6 | g.6174793C>T | CA362662236 | F13A1 | c.1534G>A (p.Val512Ile) c.1696G>A (p.Val566Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174794A>C | CA448499353 | F13A1 | c.1533T>G (p.Gly511=) c.1695T>G (p.Gly565=) | |
| 6 | g.6174794A>G | CA448499354 | F13A1 | c.1533T>C (p.Gly511=) c.1695T>C (p.Gly565=) | |
| 6 | g.6174794A>T | CA448499355 | F13A1 | c.1533T>A (p.Gly511=) c.1695T>A (p.Gly565=) | |
| 6 | g.6174795C>A | CA362662238 | F13A1 | c.1532G>T (p.Gly511Val) c.1694G>T (p.Gly565Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6174795C= | CA1607969979 | F13A1 | c.1532G= (p.Gly511=) c.1694G= (p.Gly565=) | |
| 6 | g.6174795C>G | CA362662239 | F13A1 | c.1532G>C (p.Gly511Ala) c.1694G>C (p.Gly565Ala) | |
| 6 | g.6174795C>T | CA362662242 | F13A1 | c.1532G>A (p.Gly511Asp) c.1694G>A (p.Gly565Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174795_6174798delinsCCTT | CA1607969978 | F13A1 | c.1529_1532delinsAAGG (p.Glu510=) c.1691_1694delinsAAGG (p.Glu564=) | |
| 6 | g.6174796C>A | CA362662245 | F13A1 | c.1531G>T (p.Gly511Cys) c.1693G>T (p.Gly565Cys) | |
| 6 | g.6174796C= | CA1607969980 | F13A1 | c.1531G= (p.Gly511=) c.1693G= (p.Gly565=) | |
| 6 | g.6174796C>G | CA362662247 | F13A1 | c.1531G>C (p.Gly511Arg) c.1693G>C (p.Gly565Arg) | |
| 6 | g.6174796C>T | CA362662249 | F13A1 | c.1531G>A (p.Gly511Ser) c.1693G>A (p.Gly565Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174798_6174800del | CA3624319 | F13A1 | c.1529_1531del (p.Glu510del) c.1691_1693del (p.Glu564del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174797T>A | CA362662255 | F13A1 | c.1530A>T (p.Glu510Asp) c.1692A>T (p.Glu564Asp) | dbSNP |
| 6 | g.6174797T>C | CA448499356 | F13A1 | c.1530A>G (p.Glu510=) c.1692A>G (p.Glu564=) | gnomAD v4 |
| 6 | g.6174797T>G | CA362662254 | F13A1 | c.1530A>C (p.Glu510Asp) c.1692A>C (p.Glu564Asp) | |
| 6 | g.6174797T= | CA1607969981 | F13A1 | c.1530A= (p.Glu510=) c.1692A= (p.Glu564=) | |
| 6 | g.6174798T>A | CA133914563 | F13A1 | c.1529A>T (p.Glu510Val) c.1691A>T (p.Glu564Val) | dbSNP |
| 6 | g.6174798T>C | CA362662258 | F13A1 | c.1529A>G (p.Glu510Gly) c.1691A>G (p.Glu564Gly) | |
| 6 | g.6174798T>G | CA362662259 | F13A1 | c.1529A>C (p.Glu510Ala) c.1691A>C (p.Glu564Ala) | |
| 6 | g.6174798T= | CA1607969982 | F13A1 | c.1529A= (p.Glu510=) c.1691A= (p.Glu564=) | |
| 6 | g.6174799C>A | CA362662261 | F13A1 | c.1528G>T (p.Glu510Ter) c.1690G>T (p.Glu564Ter) | |
| 6 | g.6174799C>G | CA362662263 | F13A1 | c.1528G>C (p.Glu510Gln) c.1690G>C (p.Glu564Gln) | |
| 6 | g.6174799C>T | CA362662264 | F13A1 | c.1528G>A (p.Glu510Lys) c.1690G>A (p.Glu564Lys) | |
| 6 | g.6174800T>A | CA448499357 | F13A1 | c.1527A>T (p.Thr509=) c.1689A>T (p.Thr563=) | |
| 6 | g.6174800T>C | CA448499358 | F13A1 | c.1527A>G (p.Thr509=) c.1689A>G (p.Thr563=) | |
| 6 | g.6174800T>G | CA448499359 | F13A1 | c.1527A>C (p.Thr509=) c.1689A>C (p.Thr563=) | |
| 6 | g.6174800T= | CA1607969983 | F13A1 | c.1527A= (p.Thr509=) c.1689A= (p.Thr563=) | |
| 6 | g.6174800_6174801insACACCG | CA1607969984 | F13A1 | c.1526_1527insCGGTGT (p.Thr509_Glu510insGlyVal) c.1688_1689insCGGTGT (p.Thr563_Glu564insGlyVal) | dbSNP |
| 6 | g.6174801G>A | CA362662267 | F13A1 | c.1526C>T (p.Thr509Ile) c.1688C>T (p.Thr563Ile) | gnomAD v4 |
| 6 | g.6174801G>C | CA362662269 | F13A1 | c.1526C>G (p.Thr509Arg) c.1688C>G (p.Thr563Arg) | |
| 6 | g.6174801G>T | CA362662271 | F13A1 | c.1526C>A (p.Thr509Lys) c.1688C>A (p.Thr563Lys) | |
| 6 | g.6174802T>A | CA362662275 | F13A1 | c.1525A>T (p.Thr509Ser) c.1687A>T (p.Thr563Ser) | |
| 6 | g.6174802T>C | CA362662278 | F13A1 | c.1525A>G (p.Thr509Ala) c.1687A>G (p.Thr563Ala) | |
| 6 | g.6174802T>G | CA362662280 | F13A1 | c.1525A>C (p.Thr509Pro) c.1687A>C (p.Thr563Pro) | |
| 6 | g.6174803G>A | CA448499360 | F13A1 | c.1524C>T (p.Asn508=) c.1686C>T (p.Asn562=) | gnomAD v4 |
| 6 | g.6174803G>C | CA362662282 | F13A1 | c.1524C>G (p.Asn508Lys) c.1686C>G (p.Asn562Lys) | |
| 6 | g.6174803G= | CA1607969985 | F13A1 | c.1524C= (p.Asn508=) c.1686C= (p.Asn562=) | |
| 6 | g.6174803G>T | CA3624320 | F13A1 | c.1524C>A (p.Asn508Lys) c.1686C>A (p.Asn562Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174804T>A | CA362662287 | F13A1 | c.1523A>T (p.Asn508Ile) c.1685A>T (p.Asn562Ile) | |
| 6 | g.6174804T>C | CA362662288 | F13A1 | c.1523A>G (p.Asn508Ser) c.1685A>G (p.Asn562Ser) | |
| 6 | g.6174804T>G | CA362662290 | F13A1 | c.1523A>C (p.Asn508Thr) c.1685A>C (p.Asn562Thr) | |
| 6 | g.6174805T>A | CA362662293 | F13A1 | c.1522A>T (p.Asn508Tyr) c.1684A>T (p.Asn562Tyr) | |
| 6 | g.6174805T>C | CA133914576 | F13A1 | c.1522A>G (p.Asn508Asp) c.1684A>G (p.Asn562Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174805T>G | CA362662297 | F13A1 | c.1522A>C (p.Asn508His) c.1684A>C (p.Asn562His) | |
| 6 | g.6174805T= | CA1607969986 | F13A1 | c.1522A= (p.Asn508=) c.1684A= (p.Asn562=) | |
| 6 | g.6174806G>A | CA3624321 | F13A1 | c.1521C>T (p.Leu507=) c.1683C>T (p.Leu561=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174806G>C | CA448499361 | F13A1 | c.1521C>G (p.Leu507=) c.1683C>G (p.Leu561=) | |
| 6 | g.6174806G= | CA1607969987 | F13A1 | c.1521C= (p.Leu507=) c.1683C= (p.Leu561=) | |
| 6 | g.6174806G>T | CA448499362 | F13A1 | c.1521C>A (p.Leu507=) c.1683C>A (p.Leu561=) | |
| 6 | g.6174807A>C | CA362662299 | F13A1 | c.1520T>G (p.Leu507Arg) c.1682T>G (p.Leu561Arg) | |
| 6 | g.6174807A>G | CA362662301 | F13A1 | c.1520T>C (p.Leu507Pro) c.1682T>C (p.Leu561Pro) | |
| 6 | g.6174807A>T | CA362662303 | F13A1 | c.1520T>A (p.Leu507His) c.1682T>A (p.Leu561His) | |
| 6 | g.6174808G>A | CA362662306 | F13A1 | c.1519C>T (p.Leu507Phe) c.1681C>T (p.Leu561Phe) | gnomAD v4 |
| 6 | g.6174808G>C | CA362662308 | F13A1 | c.1519C>G (p.Leu507Val) c.1681C>G (p.Leu561Val) | gnomAD v4 |
| 6 | g.6174808G>T | CA362662310 | F13A1 | c.1519C>A (p.Leu507Ile) c.1681C>A (p.Leu561Ile) | |
| 6 | g.6174809G>A | CA448499364 | F13A1 | c.1518C>T (p.Pro506=) c.1680C>T (p.Pro560=) | |
| 6 | g.6174809G>C | CA448499365 | F13A1 | c.1518C>G (p.Pro506=) c.1680C>G (p.Pro560=) | |
| 6 | g.6174809G>T | CA448499363 | F13A1 | c.1518C>A (p.Pro506=) c.1680C>A (p.Pro560=) | dbSNP |
| 6 | g.6174810G>A | CA362662316 | F13A1 | c.1517C>T (p.Pro506Leu) c.1679C>T (p.Pro560Leu) | |
| 6 | g.6174810G>C | CA362662312 | F13A1 | c.1517C>G (p.Pro506Arg) c.1679C>G (p.Pro560Arg) | |
| 6 | g.6174810G>T | CA362662314 | F13A1 | c.1517C>A (p.Pro506His) c.1679C>A (p.Pro560His) | |
| 6 | g.6174811G>A | CA362662318 | F13A1 | c.1516C>T (p.Pro506Ser) c.1678C>T (p.Pro560Ser) | |
| 6 | g.6174811G>C | CA362662320 | F13A1 | c.1516C>G (p.Pro506Ala) c.1678C>G (p.Pro560Ala) | |
| 6 | g.6174811G>T | CA362662322 | F13A1 | c.1516C>A (p.Pro506Thr) c.1678C>A (p.Pro560Thr) | dbSNP |
| 6 | g.6174812C>A | CA362662325 | F13A1 | c.1515G>T (p.Lys505Asn) c.1677G>T (p.Lys559Asn) | gnomAD v4 |
| 6 | g.6174812C= | CA1607969988 | F13A1 | c.1515G= (p.Lys505=) c.1677G= (p.Lys559=) | |
| 6 | g.6174812C>G | CA362662327 | F13A1 | c.1515G>C (p.Lys505Asn) c.1677G>C (p.Lys559Asn) | |
| 6 | g.6174812C>T | CA448499366 | F13A1 | c.1515G>A (p.Lys505=) c.1677G>A (p.Lys559=) | gnomAD v4 |
| 6 | g.6174813T>A | CA3624322 | F13A1 | c.1514A>T (p.Lys505Met) c.1676A>T (p.Lys559Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174813T>C | CA362662332 | F13A1 | c.1514A>G (p.Lys505Arg) c.1676A>G (p.Lys559Arg) | |
| 6 | g.6174813T>G | CA362662334 | F13A1 | c.1514A>C (p.Lys505Thr) c.1676A>C (p.Lys559Thr) | |
| 6 | g.6174813T= | CA1607969989 | F13A1 | c.1514A= (p.Lys505=) c.1676A= (p.Lys559=) | |
| 6 | g.6174815_6174817dup | CA826682060 | F13A1 | c.1512_1514dup (p.Lys505_Pro506insLys) c.1674_1676dup (p.Lys559_Pro560insLys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174814T>A | CA362662337 | F13A1 | c.1513A>T (p.Lys505Ter) c.1675A>T (p.Lys559Ter) | |
| 6 | g.6174814T>C | CA362662339 | F13A1 | c.1513A>G (p.Lys505Glu) c.1675A>G (p.Lys559Glu) | |
| 6 | g.6174814T>G | CA362662340 | F13A1 | c.1513A>C (p.Lys505Gln) c.1675A>C (p.Lys559Gln) | |
| 6 | g.6174815T>A | CA362662343 | F13A1 | c.1512A>T (p.Lys504Asn) c.1674A>T (p.Lys558Asn) | |
| 6 | g.6174815T>C | CA448499369 | F13A1 | c.1512A>G (p.Lys504=) c.1674A>G (p.Lys558=) | |
| 6 | g.6174815T>G | CA362662344 | F13A1 | c.1512A>C (p.Lys504Asn) c.1674A>C (p.Lys558Asn) | |
| 6 | g.6174816T>A | CA362662350 | F13A1 | c.1511A>T (p.Lys504Ile) c.1673A>T (p.Lys558Ile) | |
| 6 | g.6174816T>C | CA362662349 | F13A1 | c.1511A>G (p.Lys504Arg) c.1673A>G (p.Lys558Arg) | |
| 6 | g.6174816T>G | CA362662348 | F13A1 | c.1511A>C (p.Lys504Thr) c.1673A>C (p.Lys558Thr) | |
| 6 | g.6174817T>A | CA362662351 | F13A1 | c.1510A>T (p.Lys504Ter) c.1672A>T (p.Lys558Ter) | |
| 6 | g.6174817T>C | CA362662353 | F13A1 | c.1510A>G (p.Lys504Glu) c.1672A>G (p.Lys558Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174817T>G | CA362662352 | F13A1 | c.1510A>C (p.Lys504Gln) c.1672A>C (p.Lys558Gln) | |
| 6 | g.6174817T= | CA1607969990 | F13A1 | c.1510A= (p.Lys504=) c.1672A= (p.Lys558=) | |
| 6 | g.6174818A>C | CA448499370 | F13A1 | c.1509T>G (p.Ala503=) c.1671T>G (p.Ala557=) | |
| 6 | g.6174818A>G | CA448499371 | F13A1 | c.1509T>C (p.Ala503=) c.1671T>C (p.Ala557=) | |
| 6 | g.6174818A>T | CA448499372 | F13A1 | c.1509T>A (p.Ala503=) c.1671T>A (p.Ala557=) | |
| 6 | g.6174819G>A | CA362662354 | F13A1 | c.1508C>T (p.Ala503Val) c.1670C>T (p.Ala557Val) | COSMIC |
| 6 | g.6174819G>C | CA362662356 | F13A1 | c.1508C>G (p.Ala503Gly) c.1670C>G (p.Ala557Gly) | |
| 6 | g.6174819G>T | CA362662355 | F13A1 | c.1508C>A (p.Ala503Asp) c.1670C>A (p.Ala557Asp) | |
| 6 | g.6174820C>A | CA362662357 | F13A1 | c.1507G>T (p.Ala503Ser) c.1669G>T (p.Ala557Ser) | |
| 6 | g.6174820C= | CA1607969991 | F13A1 | c.1507G= (p.Ala503=) c.1669G= (p.Ala557=) | |
| 6 | g.6174820C>G | CA362662358 | F13A1 | c.1507G>C (p.Ala503Pro) c.1669G>C (p.Ala557Pro) | |
| 6 | g.6174820C>T | CA3624323 | F13A1 | c.1507G>A (p.Ala503Thr) c.1669G>A (p.Ala557Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174821T>A | CA448499374 | F13A1 | c.1506A>T (p.Gly502=) c.1668A>T (p.Gly556=) | |
| 6 | g.6174821T>C | CA448499375 | F13A1 | c.1506A>G (p.Gly502=) c.1668A>G (p.Gly556=) | |
| 6 | g.6174821T>G | CA448499377 | F13A1 | c.1506A>C (p.Gly502=) c.1668A>C (p.Gly556=) | gnomAD v4 |
| 6 | g.6174822C>A | CA362662359 | F13A1 | c.1505G>T (p.Gly502Val) c.1667G>T (p.Gly556Val) | |
| 6 | g.6174822C>G | CA362662360 | F13A1 | c.1505G>C (p.Gly502Ala) c.1667G>C (p.Gly556Ala) | |
| 6 | g.6174822C>T | CA362662361 | F13A1 | c.1505G>A (p.Gly502Glu) c.1667G>A (p.Gly556Glu) | COSMIC |
| 6 | g.6174823C>A | CA362662362 | F13A1 | c.1504G>T (p.Gly502Ter) c.1666G>T (p.Gly556Ter) | COSMIC |
| 6 | g.6174823C= | CA1607969992 | F13A1 | c.1504G= (p.Gly502=) c.1666G= (p.Gly556=) | |
| 6 | g.6174823C>G | CA362662363 | F13A1 | c.1504G>C (p.Gly502Arg) c.1666G>C (p.Gly556Arg) | |
| 6 | g.6174823C>T | CA126624 | F13A1 | c.1504G>A (p.Gly502Arg) c.1666G>A (p.Gly556Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174824G>A | CA3624324 | F13A1 | c.1503C>T (p.Tyr501=) c.1665C>T (p.Tyr555=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174824G>C | CA362662364 | F13A1 | c.1503C>G (p.Tyr501Ter) c.1665C>G (p.Tyr555Ter) | gnomAD v4 |
| 6 | g.6174824G= | CA1607969993 | F13A1 | c.1503C= (p.Tyr501=) c.1665C= (p.Tyr555=) | |
| 6 | g.6174824G>T | CA362662365 | F13A1 | c.1503C>A (p.Tyr501Ter) c.1665C>A (p.Tyr555Ter) | ClinVar |
| 6 | g.6174825T>A | CA362662366 | F13A1 | c.1502A>T (p.Tyr501Phe) c.1664A>T (p.Tyr555Phe) | |
| 6 | g.6174825T>C | CA362662368 | F13A1 | c.1502A>G (p.Tyr501Cys) c.1664A>G (p.Tyr555Cys) | dbSNP gnomAD v4 |
| 6 | g.6174825T>G | CA362662367 | F13A1 | c.1502A>C (p.Tyr501Ser) c.1664A>C (p.Tyr555Ser) | |
| 6 | g.6174825T= | CA1607969994 | F13A1 | c.1502A= (p.Tyr501=) c.1664A= (p.Tyr555=) | |
| 6 | g.6174826A>C | CA362662369 | F13A1 | c.1501T>G (p.Tyr501Asp) c.1663T>G (p.Tyr555Asp) | |
| 6 | g.6174826A>G | CA362662370 | F13A1 | c.1501T>C (p.Tyr501His) c.1663T>C (p.Tyr555His) | |
| 6 | g.6174826A>T | CA362662371 | F13A1 | c.1501T>A (p.Tyr501Asn) c.1663T>A (p.Tyr555Asn) | |
| 6 | g.6174827C>A | CA362662372 | F13A1 | c.1500G>T (p.Met500Ile) c.1662G>T (p.Met554Ile) | |
| 6 | g.6174827C= | CA1607969995 | F13A1 | c.1500G= (p.Met500=) c.1662G= (p.Met554=) | |
| 6 | g.6174827C>G | CA362662373 | F13A1 | c.1500G>C (p.Met500Ile) c.1662G>C (p.Met554Ile) | |
| 6 | g.6174827C>T | CA3624325 | F13A1 | c.1500G>A (p.Met500Ile) c.1662G>A (p.Met554Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174828A= | CA1607969996 | F13A1 | c.1499T= (p.Met500=) c.1661T= (p.Met554=) | |
| 6 | g.6174828A>C | CA362662374 | F13A1 | c.1499T>G (p.Met500Arg) c.1661T>G (p.Met554Arg) | dbSNP gnomAD v4 |
| 6 | g.6174828A>G | CA362662375 | F13A1 | c.1499T>C (p.Met500Thr) c.1661T>C (p.Met554Thr) | |
| 6 | g.6174828A>T | CA362662376 | F13A1 | c.1499T>A (p.Met500Lys) c.1661T>A (p.Met554Lys) | |
| 6 | g.6174829T>A | CA362662380 | F13A1 | c.1498A>T (p.Met500Leu) c.1660A>T (p.Met554Leu) | |
| 6 | g.6174829T>C | CA362662381 | F13A1 | c.1498A>G (p.Met500Val) c.1660A>G (p.Met554Val) | gnomAD v4 |
| 6 | g.6174829T>G | CA362662378 | F13A1 | c.1498A>C (p.Met500Leu) c.1660A>C (p.Met554Leu) | |
| 6 | g.6174830C>A | CA448499384 | F13A1 | c.1497G>T (p.Leu499=) c.1659G>T (p.Leu553=) | COSMIC |
| 6 | g.6174830C= | CA1607969997 | F13A1 | c.1497G= (p.Leu499=) c.1659G= (p.Leu553=) | |
| 6 | g.6174830C>G | CA3624326 | F13A1 | c.1497G>C (p.Leu499=) c.1659G>C (p.Leu553=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174830C>T | CA448499385 | F13A1 | c.1497G>A (p.Leu499=) c.1659G>A (p.Leu553=) | |
| 6 | g.6174831A>C | CA362662386 | F13A1 | c.1496T>G (p.Leu499Arg) c.1658T>G (p.Leu553Arg) | |
| 6 | g.6174831A>G | CA362662388 | F13A1 | c.1496T>C (p.Leu499Pro) c.1658T>C (p.Leu553Pro) | |
| 6 | g.6174831A>T | CA362662390 | F13A1 | c.1496T>A (p.Leu499Gln) c.1658T>A (p.Leu553Gln) | |
| 6 | g.6174832G>A | CA448499387 | F13A1 | c.1495C>T (p.Leu499=) c.1657C>T (p.Leu553=) | |
| 6 | g.6174832G>C | CA362662393 | F13A1 | c.1495C>G (p.Leu499Val) c.1657C>G (p.Leu553Val) | gnomAD v4 |
| 6 | g.6174832G>T | CA362662395 | F13A1 | c.1495C>A (p.Leu499Met) c.1657C>A (p.Leu553Met) |