| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160741318G>A | CA4087973 | PLG | c.979G>A (p.Val327Ile) c.2077G>A (p.Val693Ile) c.*2046G>A (n.*2046G>A) c.2026G>A (p.Val676Ile) n.49G>A n.327G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.160741318G>C | CA366366157 | PLG | c.979G>C (p.Val327Leu) c.2077G>C (p.Val693Leu) c.*2046G>C (n.*2046G>C) c.2026G>C (p.Val676Leu) n.49G>C n.327G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.160741318G= | CA1677205982 | PLG | c.979G= (p.Val327=) c.2077G= (p.Val693=) c.*2046G= (n.*2046G=) c.2026G= (p.Val676=) n.49G= n.327G= | |
| 6 | g.160741318G>T | CA366366159 | PLG | c.979G>T (p.Val327Phe) c.2077G>T (p.Val693Phe) c.*2046G>T (n.*2046G>T) c.2026G>T (p.Val676Phe) n.49G>T n.327G>T | gnomAD v4 |
| 6 | g.160741319T>A | CA151235497 | PLG | c.980T>A (p.Val327Asp) c.2078T>A (p.Val693Asp) c.*2047T>A (n.*2047T>A) c.2027T>A (p.Val676Asp) n.50T>A n.328T>A | dbSNP |
| 6 | g.160741319T>C | CA366366161 | PLG | c.980T>C (p.Val327Ala) c.2078T>C (p.Val693Ala) c.*2047T>C (n.*2047T>C) c.2027T>C (p.Val676Ala) n.50T>C n.328T>C | gnomAD v4 |
| 6 | g.160741319T>G | CA366366162 | PLG | c.980T>G (p.Val327Gly) c.2078T>G (p.Val693Gly) c.*2047T>G (n.*2047T>G) c.2027T>G (p.Val676Gly) n.50T>G n.328T>G | |
| 6 | g.160741319T= | CA1677205983 | PLG | c.980T= (p.Val327=) c.2078T= (p.Val693=) c.*2047T= (n.*2047T=) c.2027T= (p.Val676=) n.50T= n.328T= | |
| 6 | g.160741320C>A | CA453029366 | PLG | c.981C>A (p.Val327=) c.2079C>A (p.Val693=) c.*2048C>A (n.*2048C>A) c.2028C>A (p.Val676=) n.51C>A n.329C>A | |
| 6 | g.160741320C>G | CA453029364 | PLG | c.981C>G (p.Val327=) c.2079C>G (p.Val693=) c.*2048C>G (n.*2048C>G) c.2028C>G (p.Val676=) n.51C>G n.329C>G | |
| 6 | g.160741320C>T | CA453029362 | PLG | c.981C>T (p.Val327=) c.2079C>T (p.Val693=) c.*2048C>T (n.*2048C>T) c.2028C>T (p.Val676=) n.51C>T n.329C>T | |
| 6 | g.160741321A>C | CA366366164 | PLG | c.982A>C (p.Ile328Leu) c.2080A>C (p.Ile694Leu) c.*2049A>C (n.*2049A>C) c.2029A>C (p.Ile677Leu) n.52A>C n.330A>C | |
| 6 | g.160741321A>G | CA366366165 | PLG | c.982A>G (p.Ile328Val) c.2080A>G (p.Ile694Val) c.*2049A>G (n.*2049A>G) c.2029A>G (p.Ile677Val) n.52A>G n.330A>G | |
| 6 | g.160741321A>T | CA366366166 | PLG | c.982A>T (p.Ile328Phe) c.2080A>T (p.Ile694Phe) c.*2049A>T (n.*2049A>T) c.2029A>T (p.Ile677Phe) n.52A>T n.330A>T | |
| 6 | g.160741322T>A | CA366366168 | PLG | c.983T>A (p.Ile328Asn) c.2081T>A (p.Ile694Asn) c.*2050T>A (n.*2050T>A) c.2030T>A (p.Ile677Asn) n.53T>A n.331T>A | dbSNP gnomAD v4 |
| 6 | g.160741322T>C | CA366366170 | PLG | c.983T>C (p.Ile328Thr) c.2081T>C (p.Ile694Thr) c.*2050T>C (n.*2050T>C) c.2030T>C (p.Ile677Thr) n.53T>C n.331T>C | |
| 6 | g.160741322T>G | CA366366172 | PLG | c.983T>G (p.Ile328Ser) c.2081T>G (p.Ile694Ser) c.*2050T>G (n.*2050T>G) c.2030T>G (p.Ile677Ser) n.53T>G n.331T>G | |
| 6 | g.160741323C>A | CA453029376 | PLG | c.984C>A (p.Ile328=) c.2082C>A (p.Ile694=) c.*2051C>A (n.*2051C>A) c.2031C>A (p.Ile677=) n.54C>A n.332C>A | gnomAD v4 |
| 6 | g.160741323C= | CA1677205984 | PLG | c.984C= (p.Ile328=) c.2082C= (p.Ile694=) c.*2051C= (n.*2051C=) c.2031C= (p.Ile677=) n.54C= n.332C= | |
| 6 | g.160741323C>G | CA4087974 | PLG | c.984C>G (p.Ile328Met) c.2082C>G (p.Ile694Met) c.*2051C>G (n.*2051C>G) c.2031C>G (p.Ile677Met) n.54C>G n.332C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.160741323C>T | CA453029374 | PLG | c.984C>T (p.Ile328=) c.2082C>T (p.Ile694=) c.*2051C>T (n.*2051C>T) c.2031C>T (p.Ile677=) n.54C>T n.332C>T | |
| 6 | g.160741324A>C | CA366366176 | PLG | c.985A>C (p.Thr329Pro) c.2083A>C (p.Thr695Pro) c.*2052A>C (n.*2052A>C) c.2032A>C (p.Thr678Pro) n.55A>C n.333A>C | |
| 6 | g.160741324A>G | CA366366175 | PLG | c.985A>G (p.Thr329Ala) c.2083A>G (p.Thr695Ala) c.*2052A>G (n.*2052A>G) c.2032A>G (p.Thr678Ala) n.55A>G n.333A>G | |
| 6 | g.160741324A>T | CA366366173 | PLG | c.985A>T (p.Thr329Ser) c.2083A>T (p.Thr695Ser) c.*2052A>T (n.*2052A>T) c.2032A>T (p.Thr678Ser) n.55A>T n.333A>T | |
| 6 | g.160741325C>A | CA366366177 | PLG | c.986C>A (p.Thr329Asn) c.2084C>A (p.Thr695Asn) c.*2053C>A (n.*2053C>A) c.2033C>A (p.Thr678Asn) n.56C>A n.334C>A | gnomAD v4 |
| 6 | g.160741325C>G | CA366366183 | PLG | c.986C>G (p.Thr329Ser) c.2084C>G (p.Thr695Ser) c.*2053C>G (n.*2053C>G) c.2033C>G (p.Thr678Ser) n.56C>G n.334C>G | |
| 6 | g.160741325C>T | CA366366185 | PLG | c.986C>T (p.Thr329Ile) c.2084C>T (p.Thr695Ile) c.*2053C>T (n.*2053C>T) c.2033C>T (p.Thr678Ile) n.56C>T n.334C>T | |
| 6 | g.160741326T>A | CA453029385 | PLG | c.987T>A (p.Thr329=) c.2085T>A (p.Thr695=) c.*2054T>A (n.*2054T>A) c.2034T>A (p.Thr678=) n.57T>A n.335T>A | |
| 6 | g.160741326T>C | CA453029388 | PLG | c.987T>C (p.Thr329=) c.2085T>C (p.Thr695=) c.*2054T>C (n.*2054T>C) c.2034T>C (p.Thr678=) n.57T>C n.335T>C | |
| 6 | g.160741326T>G | CA453029387 | PLG | c.987T>G (p.Thr329=) c.2085T>G (p.Thr695=) c.*2054T>G (n.*2054T>G) c.2034T>G (p.Thr678=) n.57T>G n.335T>G | |
| 6 | g.160741326dup | CA645542101 | PLG | c.987dup (p.Asp330Ter) c.2085dup (p.Asp696Ter) c.*2054dup (n.*2054dup) c.2034dup (p.Asp679Ter) n.57dup n.335dup | COSMIC |
| 6 | g.160741327G>A | CA366366186 | PLG | c.988G>A (p.Asp330Asn) c.2086G>A (p.Asp696Asn) c.*2055G>A (n.*2055G>A) c.2035G>A (p.Asp679Asn) n.58G>A n.336G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160741327G>C | CA366366187 | PLG | c.988G>C (p.Asp330His) c.2086G>C (p.Asp696His) c.*2055G>C (n.*2055G>C) c.2035G>C (p.Asp679His) n.58G>C n.336G>C | |
| 6 | g.160741327G= | CA1677205985 | PLG | c.988G= (p.Asp330=) c.2086G= (p.Asp696=) c.*2055G= (n.*2055G=) c.2035G= (p.Asp679=) n.58G= n.336G= | |
| 6 | g.160741327G>T | CA366366189 | PLG | c.988G>T (p.Asp330Tyr) c.2086G>T (p.Asp696Tyr) c.*2055G>T (n.*2055G>T) c.2035G>T (p.Asp679Tyr) n.58G>T n.336G>T | |
| 6 | g.160741328A= | CA1677205986 | PLG | c.989A= (p.Asp330=) c.2087A= (p.Asp696=) c.*2056A= (n.*2056A=) c.2036A= (p.Asp679=) n.59A= n.337A= | |
| 6 | g.160741328A>C | CA366366191 | PLG | c.989A>C (p.Asp330Ala) c.2087A>C (p.Asp696Ala) c.*2056A>C (n.*2056A>C) c.2036A>C (p.Asp679Ala) n.59A>C n.337A>C | |
| 6 | g.160741328A>G | CA366366193 | PLG | c.989A>G (p.Asp330Gly) c.2087A>G (p.Asp696Gly) c.*2056A>G (n.*2056A>G) c.2036A>G (p.Asp679Gly) n.59A>G n.337A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.160741328A>T | CA366366194 | PLG | c.989A>T (p.Asp330Val) c.2087A>T (p.Asp696Val) c.*2056A>T (n.*2056A>T) c.2036A>T (p.Asp679Val) n.59A>T n.337A>T | |
| 6 | g.160741329C>A | CA366366196 | PLG | c.990C>A (p.Asp330Glu) c.2088C>A (p.Asp696Glu) c.*2057C>A (n.*2057C>A) c.2037C>A (p.Asp679Glu) n.60C>A n.338C>A | gnomAD v4 |
| 6 | g.160741329C>G | CA366366202 | PLG | c.990C>G (p.Asp330Glu) c.2088C>G (p.Asp696Glu) c.*2057C>G (n.*2057C>G) c.2037C>G (p.Asp679Glu) n.60C>G n.338C>G | |
| 6 | g.160741329C>T | CA453029401 | PLG | c.990C>T (p.Asp330=) c.2088C>T (p.Asp696=) c.*2057C>T (n.*2057C>T) c.2037C>T (p.Asp679=) n.60C>T n.338C>T | |
| 6 | g.160741330A>C | CA366366204 | PLG | c.991A>C (p.Lys331Gln) c.2089A>C (p.Lys697Gln) c.*2058A>C (n.*2058A>C) c.2038A>C (p.Lys680Gln) n.61A>C n.339A>C | |
| 6 | g.160741330A>G | CA366366206 | PLG | c.991A>G (p.Lys331Glu) c.2089A>G (p.Lys697Glu) c.*2058A>G (n.*2058A>G) c.2038A>G (p.Lys680Glu) n.61A>G n.339A>G | |
| 6 | g.160741330A>T | CA366366207 | PLG | c.991A>T (p.Lys331Ter) c.2089A>T (p.Lys697Ter) c.*2058A>T (n.*2058A>T) c.2038A>T (p.Lys680Ter) n.61A>T n.339A>T | |
| 6 | g.160741331A= | CA1677205987 | PLG | c.992A= (p.Lys331=) c.2090A= (p.Lys697=) c.*2059A= (n.*2059A=) c.2039A= (p.Lys680=) n.62A= n.340A= | |
| 6 | g.160741331A>C | CA366366211 | PLG | c.992A>C (p.Lys331Thr) c.2090A>C (p.Lys697Thr) c.*2059A>C (n.*2059A>C) c.2039A>C (p.Lys680Thr) n.62A>C n.340A>C | |
| 6 | g.160741331A>G | CA366366212 | PLG | c.992A>G (p.Lys331Arg) c.2090A>G (p.Lys697Arg) c.*2059A>G (n.*2059A>G) c.2039A>G (p.Lys680Arg) n.62A>G n.340A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.160741331A>T | CA366366209 | PLG | c.992A>T (p.Lys331Ile) c.2090A>T (p.Lys697Ile) c.*2059A>T (n.*2059A>T) c.2039A>T (p.Lys680Ile) n.62A>T n.340A>T | |
| 6 | g.160741332A>C | CA366366214 | PLG | c.993A>C (p.Lys331Asn) c.2091A>C (p.Lys697Asn) c.*2060A>C (n.*2060A>C) c.2040A>C (p.Lys680Asn) n.63A>C n.341A>C | gnomAD v4 |