Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6174723T>A | CA362661757 | F13A1 | c.1604A>T (p.Lys535Met) c.1766A>T (p.Lys589Met) | |
6 | g.6174723T>C | CA3624300 | F13A1 | c.1604A>G (p.Lys535Arg) c.1766A>G (p.Lys589Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6174723T>G | CA362661765 | F13A1 | c.1604A>C (p.Lys535Thr) c.1766A>C (p.Lys589Thr) | gnomAD v4 |
6 | g.6174723T= | CA1607969943 | F13A1 | c.1604A= (p.Lys535=) c.1766A= (p.Lys589=) | |
6 | g.6174724T>A | CA362661774 | F13A1 | c.1603A>T (p.Lys535Ter) c.1765A>T (p.Lys589Ter) | |
6 | g.6174724T>C | CA362661776 | F13A1 | c.1603A>G (p.Lys535Glu) c.1765A>G (p.Lys589Glu) | |
6 | g.6174724T>G | CA362661768 | F13A1 | c.1603A>C (p.Lys535Gln) c.1765A>C (p.Lys589Gln) | gnomAD v4 |
6 | g.6174725G>A | CA448499318 | F13A1 | c.1602C>T (p.Phe534=) c.1764C>T (p.Phe588=) | |
6 | g.6174725G>C | CA362661777 | F13A1 | c.1602C>G (p.Phe534Leu) c.1764C>G (p.Phe588Leu) | |
6 | g.6174725G>T | CA362661778 | F13A1 | c.1602C>A (p.Phe534Leu) c.1764C>A (p.Phe588Leu) | |
6 | g.6174726A>C | CA362661781 | F13A1 | c.1601T>G (p.Phe534Cys) c.1763T>G (p.Phe588Cys) | |
6 | g.6174726A>G | CA362661783 | F13A1 | c.1601T>C (p.Phe534Ser) c.1763T>C (p.Phe588Ser) | gnomAD v4 |
6 | g.6174726A>T | CA362661786 | F13A1 | c.1601T>A (p.Phe534Tyr) c.1763T>A (p.Phe588Tyr) | |
6 | g.6174727A= | CA1607969944 | F13A1 | c.1600T= (p.Phe534=) c.1762T= (p.Phe588=) | |
6 | g.6174727A>C | CA362661791 | F13A1 | c.1600T>G (p.Phe534Val) c.1762T>G (p.Phe588Val) | |
6 | g.6174727A>G | CA362661795 | F13A1 | c.1600T>C (p.Phe534Leu) c.1762T>C (p.Phe588Leu) | |
6 | g.6174727A>T | CA3624301 | F13A1 | c.1600T>A (p.Phe534Ile) c.1762T>A (p.Phe588Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6174728G>A | CA448499319 | F13A1 | c.1599C>T (p.Asp533=) c.1761C>T (p.Asp587=) | dbSNP gnomAD v4 |
6 | g.6174728G>C | CA362661800 | F13A1 | c.1599C>G (p.Asp533Glu) c.1761C>G (p.Asp587Glu) | |
6 | g.6174728G= | CA1607969945 | F13A1 | c.1599C= (p.Asp533=) c.1761C= (p.Asp587=) | |
6 | g.6174728G>T | CA362661802 | F13A1 | c.1599C>A (p.Asp533Glu) c.1761C>A (p.Asp587Glu) | gnomAD v4 |
6 | g.6174729T>A | CA362661806 | F13A1 | c.1598A>T (p.Asp533Val) c.1760A>T (p.Asp587Val) | |
6 | g.6174729T>C | CA362661807 | F13A1 | c.1598A>G (p.Asp533Gly) c.1760A>G (p.Asp587Gly) | |
6 | g.6174729T>G | CA362661811 | F13A1 | c.1598A>C (p.Asp533Ala) c.1760A>C (p.Asp587Ala) | |
6 | g.6174730C>A | CA362661822 | F13A1 | c.1597G>T (p.Asp533Tyr) c.1759G>T (p.Asp587Tyr) | dbSNP COSMIC |
6 | g.6174730C= | CA1607969946 | F13A1 | c.1597G= (p.Asp533=) c.1759G= (p.Asp587=) | |
6 | g.6174730C>G | CA362661818 | F13A1 | c.1597G>C (p.Asp533His) c.1759G>C (p.Asp587His) | |
6 | g.6174730C>T | CA362661815 | F13A1 | c.1597G>A (p.Asp533Asn) c.1759G>A (p.Asp587Asn) | |
6 | g.6174730_6174732delinsCTT | CA1607969947 | F13A1 | c.1595_1597delinsAAG (p.Lys532=) c.1757_1759delinsAAG (p.Lys586=) | |
6 | g.6174731T>A | CA362661824 | F13A1 | c.1596A>T (p.Lys532Asn) c.1758A>T (p.Lys586Asn) | |
6 | g.6174731T>C | CA448499320 | F13A1 | c.1596A>G (p.Lys532=) c.1758A>G (p.Lys586=) | |
6 | g.6174731T>G | CA362661828 | F13A1 | c.1596A>C (p.Lys532Asn) c.1758A>C (p.Lys586Asn) | |
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 |