Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.160736877T>C | CA2681092209 | PLG | c.635-10T>C (n.635-10T>C) c.1733-10T>C (n.1733-10T>C) c.*1692T>C (n.*1692T>C) c.1682-10T>C (n.1682-10T>C) | gnomAD v4 |
6 | g.160736881C>T | CA2578790926 | PLG | c.635-6C>T (n.635-6C>T) c.1733-6C>T (n.1733-6C>T) c.*1696C>T (n.*1696C>T) c.1682-6C>T (n.1682-6C>T) | gnomAD v4 |
6 | g.160736884C= | CA1677203909 | PLG | c.635-3C= (n.635-3C=) c.1733-3C= (n.1733-3C=) c.*1699C= (n.*1699C=) c.1682-3C= (n.1682-3C=) | |
6 | g.160736884C>T | CA151231644 | PLG | c.635-3C>T (n.635-3C>T) c.1733-3C>T (n.1733-3C>T) c.*1699C>T (n.*1699C>T) c.1682-3C>T (n.1682-3C>T) | dbSNP gnomAD v4 |
6 | g.160736885A>C | CA366364781 | PLG | c.635-2A>C (n.635-2A>C) c.1733-2A>C (n.1733-2A>C) c.*1700A>C (n.*1700A>C) c.1682-2A>C (n.1682-2A>C) | |
6 | g.160736885A>G | CA366364782 | PLG | c.635-2A>G (n.635-2A>G) c.1733-2A>G (n.1733-2A>G) c.*1700A>G (n.*1700A>G) c.1682-2A>G (n.1682-2A>G) | |
6 | g.160736885A>T | CA366364780 | PLG | c.635-2A>T (n.635-2A>T) c.1733-2A>T (n.1733-2A>T) c.*1700A>T (n.*1700A>T) c.1682-2A>T (n.1682-2A>T) | |
6 | g.160736886G>A | CA366364783 | PLG | c.635-1G>A (n.635-1G>A) c.1733-1G>A (n.1733-1G>A) c.*1701G>A (n.*1701G>A) c.1682-1G>A (n.1682-1G>A) | COSMIC |
6 | g.160736886G>C | CA366364784 | PLG | c.635-1G>C (n.635-1G>C) c.1733-1G>C (n.1733-1G>C) c.*1701G>C (n.*1701G>C) c.1682-1G>C (n.1682-1G>C) | |
6 | g.160736886G>T | CA366364785 | PLG | c.635-1G>T (n.635-1G>T) c.1733-1G>T (n.1733-1G>T) c.*1701G>T (n.*1701G>T) c.1682-1G>T (n.1682-1G>T) | |
6 | g.160736887C>A | CA366364786 | PLG | c.635C>A (p.Ala212Glu) c.1733C>A (p.Ala578Glu) c.*1702C>A (n.*1702C>A) c.1682C>A (p.Ala561Glu) | gnomAD v4 |
6 | g.160736887C= | CA1677203910 | PLG | c.635C= (p.Ala212=) c.1733C= (p.Ala578=) c.*1702C= (n.*1702C=) c.1682C= (p.Ala561=) | |
6 | g.160736887C>G | CA366364787 | PLG | c.635C>G (p.Ala212Gly) c.1733C>G (p.Ala578Gly) c.*1702C>G (n.*1702C>G) c.1682C>G (p.Ala561Gly) | |
6 | g.160736887C>T | CA151231658 | PLG | c.635C>T (p.Ala212Val) c.1733C>T (p.Ala578Val) c.*1702C>T (n.*1702C>T) c.1682C>T (p.Ala561Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.160736888G>A | CA453028921 | PLG | c.636G>A (p.Ala212=) c.1734G>A (p.Ala578=) c.*1703G>A (n.*1703G>A) c.1683G>A (p.Ala561=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.160736888G>C | CA453028922 | PLG | c.636G>C (p.Ala212=) c.1734G>C (p.Ala578=) c.*1703G>C (n.*1703G>C) c.1683G>C (p.Ala561=) | |
6 | g.160736888G= | CA1677203911 | PLG | c.636G= (p.Ala212=) c.1734G= (p.Ala578=) c.*1703G= (n.*1703G=) c.1683G= (p.Ala561=) | |
6 | g.160736888G>T | CA4087864 | PLG | c.636G>T (p.Ala212=) c.1734G>T (p.Ala578=) c.*1703G>T (n.*1703G>T) c.1683G>T (p.Ala561=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.160736889G>A | CA366364788 | PLG | c.637G>A (p.Ala213Thr) c.1735G>A (p.Ala579Thr) c.*1704G>A (n.*1704G>A) c.1684G>A (p.Ala562Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.160736889G>C | CA366364789 | PLG | c.637G>C (p.Ala213Pro) c.1735G>C (p.Ala579Pro) c.*1704G>C (n.*1704G>C) c.1684G>C (p.Ala562Pro) | gnomAD v4 |
6 | g.160736889G= | CA1677203912 | PLG | c.637G= (p.Ala213=) c.1735G= (p.Ala579=) c.*1704G= (n.*1704G=) c.1684G= (p.Ala562=) | |
6 | g.160736889G>T | CA151231680 | PLG | c.637G>T (p.Ala213Ser) c.1735G>T (p.Ala579Ser) c.*1704G>T (n.*1704G>T) c.1684G>T (p.Ala562Ser) | dbSNP |
6 | g.160736890C>A | CA366364790 | PLG | c.638C>A (p.Ala213Asp) c.1736C>A (p.Ala579Asp) c.*1705C>A (n.*1705C>A) c.1685C>A (p.Ala562Asp) | |
6 | g.160736890C= | CA1677203913 | PLG | c.638C= (p.Ala213=) c.1736C= (p.Ala579=) c.*1705C= (n.*1705C=) c.1685C= (p.Ala562=) | |
6 | g.160736890C>G | CA366364791 | PLG | c.638C>G (p.Ala213Gly) c.1736C>G (p.Ala579Gly) c.*1705C>G (n.*1705C>G) c.1685C>G (p.Ala562Gly) | |
6 | g.160736890C>T | CA366364792 | PLG | c.638C>T (p.Ala213Val) c.1736C>T (p.Ala579Val) c.*1705C>T (n.*1705C>T) c.1685C>T (p.Ala562Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.160736891C>A | CA453028923 | PLG | c.639C>A (p.Ala213=) c.1737C>A (p.Ala579=) c.*1706C>A (n.*1706C>A) c.1686C>A (p.Ala562=) | gnomAD v4 |
6 | g.160736891C= | CA1677203914 | PLG | c.639C= (p.Ala213=) c.1737C= (p.Ala579=) c.*1706C= (n.*1706C=) c.1686C= (p.Ala562=) | |
6 | g.160736891C>G | CA453028924 | PLG | c.639C>G (p.Ala213=) c.1737C>G (p.Ala579=) c.*1706C>G (n.*1706C>G) c.1686C>G (p.Ala562=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.160736891C>T | CA453028925 | PLG | c.639C>T (p.Ala213=) c.1737C>T (p.Ala579=) c.*1706C>T (n.*1706C>T) c.1686C>T (p.Ala562=) | gnomAD v4 |
6 | g.160736892C>A | CA366364795 | PLG | c.640C>A (p.Pro214Thr) c.1738C>A (p.Pro580Thr) c.*1707C>A (n.*1707C>A) c.1687C>A (p.Pro563Thr) | gnomAD v4 |
6 | g.160736892C>G | CA366364793 | PLG | c.640C>G (p.Pro214Ala) c.1738C>G (p.Pro580Ala) c.*1707C>G (n.*1707C>G) c.1687C>G (p.Pro563Ala) | gnomAD v4 |
6 | g.160736892C>T | CA366364794 | PLG | c.640C>T (p.Pro214Ser) c.1738C>T (p.Pro580Ser) c.*1707C>T (n.*1707C>T) c.1687C>T (p.Pro563Ser) | gnomAD v4 |
6 | g.160736893C>A | CA366364796 | PLG | c.641C>A (p.Pro214His) c.1739C>A (p.Pro580His) c.*1708C>A (n.*1708C>A) c.1688C>A (p.Pro563His) | |
6 | g.160736893C>G | CA366364798 | PLG | c.641C>G (p.Pro214Arg) c.1739C>G (p.Pro580Arg) c.*1708C>G (n.*1708C>G) c.1688C>G (p.Pro563Arg) | |
6 | g.160736893C>T | CA366364797 | PLG | c.641C>T (p.Pro214Leu) c.1739C>T (p.Pro580Leu) c.*1708C>T (n.*1708C>T) c.1688C>T (p.Pro563Leu) | |
6 | g.160736894T>A | CA453028926 | PLG | c.642T>A (p.Pro214=) c.1740T>A (p.Pro580=) c.*1709T>A (n.*1709T>A) c.1689T>A (p.Pro563=) | |
6 | g.160736894T>C | CA453028927 | PLG | c.642T>C (p.Pro214=) c.1740T>C (p.Pro580=) c.*1709T>C (n.*1709T>C) c.1689T>C (p.Pro563=) | |
6 | g.160736894T>G | CA453028928 | PLG | c.642T>G (p.Pro214=) c.1740T>G (p.Pro580=) c.*1709T>G (n.*1709T>G) c.1689T>G (p.Pro563=) | |
6 | g.160736895T>A | CA366364799 | PLG | c.643T>A (p.Ser215Thr) c.1741T>A (p.Ser581Thr) c.*1710T>A (n.*1710T>A) c.1690T>A (p.Ser564Thr) | |
6 | g.160736895T>C | CA366364800 | PLG | c.643T>C (p.Ser215Pro) c.1741T>C (p.Ser581Pro) c.*1710T>C (n.*1710T>C) c.1690T>C (p.Ser564Pro) | |
6 | g.160736895T>G | CA366364801 | PLG | c.643T>G (p.Ser215Ala) c.1741T>G (p.Ser581Ala) c.*1710T>G (n.*1710T>G) c.1690T>G (p.Ser564Ala) | |
6 | g.160736896C>A | CA366364802 | PLG | c.644C>A (p.Ser215Ter) c.1742C>A (p.Ser581Ter) c.*1711C>A (n.*1711C>A) c.1691C>A (p.Ser564Ter) | |
6 | g.160736896C>G | CA366364803 | PLG | c.644C>G (p.Ser215Ter) c.1742C>G (p.Ser581Ter) c.*1711C>G (n.*1711C>G) c.1691C>G (p.Ser564Ter) | |
6 | g.160736896C>T | CA366364804 | PLG | c.644C>T (p.Ser215Leu) c.1742C>T (p.Ser581Leu) c.*1711C>T (n.*1711C>T) c.1691C>T (p.Ser564Leu) | gnomAD v4 COSMIC |
6 | g.160736897A>C | CA453028929 | PLG | c.645A>C (p.Ser215=) c.1743A>C (p.Ser581=) c.*1712A>C (n.*1712A>C) c.1692A>C (p.Ser564=) | |
6 | g.160736897A>G | CA453028931 | PLG | c.645A>G (p.Ser215=) c.1743A>G (p.Ser581=) c.*1712A>G (n.*1712A>G) c.1692A>G (p.Ser564=) | gnomAD v4 |
6 | g.160736897A>T | CA453028930 | PLG | c.645A>T (p.Ser215=) c.1743A>T (p.Ser581=) c.*1712A>T (n.*1712A>T) c.1692A>T (p.Ser564=) | |
6 | g.160736898T>A | CA366364807 | PLG | c.646T>A (p.Phe216Ile) c.1744T>A (p.Phe582Ile) c.*1713T>A (n.*1713T>A) c.1693T>A (p.Phe565Ile) | |
6 | g.160736898T>C | CA366364805 | PLG | c.646T>C (p.Phe216Leu) c.1744T>C (p.Phe582Leu) c.*1713T>C (n.*1713T>C) c.1693T>C (p.Phe565Leu) |