| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160731208G>A | CA4087772 | PLG | c.367G>A (p.Asp123Asn) c.1465G>A (p.Asp489Asn) c.1414G>A (p.Asp472Asn) n.412G>A n.469G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160731208G>C | CA366363849 | PLG | c.367G>C (p.Asp123His) c.1465G>C (p.Asp489His) c.1414G>C (p.Asp472His) n.412G>C n.469G>C | gnomAD v4 |
| 6 | g.160731208G= | CA1630834635 | PLG | c.367G= (p.Asp123=) c.1465G= (p.Asp489=) c.1414G= (p.Asp472=) n.412G= n.469G= | |
| 6 | g.160731208G>T | CA366363848 | PLG | c.367G>T (p.Asp123Tyr) c.1465G>T (p.Asp489Tyr) c.1414G>T (p.Asp472Tyr) n.412G>T n.469G>T | |
| 6 | g.160731209A>C | CA366363850 | PLG | c.368A>C (p.Asp123Ala) c.1466A>C (p.Asp489Ala) c.1415A>C (p.Asp472Ala) n.413A>C n.470A>C | |
| 6 | g.160731209A>G | CA366363852 | PLG | c.368A>G (p.Asp123Gly) c.1466A>G (p.Asp489Gly) c.1415A>G (p.Asp472Gly) n.413A>G n.470A>G | |
| 6 | g.160731209A>T | CA366363851 | PLG | c.368A>T (p.Asp123Val) c.1466A>T (p.Asp489Val) c.1415A>T (p.Asp472Val) n.413A>T n.470A>T | |
| 6 | g.160731210T>A | CA4087773 | PLG | c.369T>A (p.Asp123Glu) c.1467T>A (p.Asp489Glu) c.1416T>A (p.Asp472Glu) n.414T>A n.471T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160731210T>C | CA453028298 | PLG | c.369T>C (p.Asp123=) c.1467T>C (p.Asp489=) c.1416T>C (p.Asp472=) n.414T>C n.471T>C | dbSNP gnomAD v4 |
| 6 | g.160731210T>G | CA366363853 | PLG | c.369T>G (p.Asp123Glu) c.1467T>G (p.Asp489Glu) c.1416T>G (p.Asp472Glu) n.414T>G n.471T>G | |
| 6 | g.160731210T= | CA1677201390 | PLG | c.369T= (p.Asp123=) c.1467T= (p.Asp489=) c.1416T= (p.Asp472=) n.414T= n.471T= | |
| 6 | g.160731211G>A | CA4087774 | PLG | c.370G>A (p.Val124Ile) c.1468G>A (p.Val490Ile) c.1417G>A (p.Val473Ile) n.415G>A n.472G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.160731211G>C | CA366363854 | PLG | c.370G>C (p.Val124Leu) c.1468G>C (p.Val490Leu) c.1417G>C (p.Val473Leu) n.415G>C n.472G>C | |
| 6 | g.160731211G= | CA1677201391 | PLG | c.370G= (p.Val124=) c.1468G= (p.Val490=) c.1417G= (p.Val473=) n.415G= n.472G= | |
| 6 | g.160731211G>T | CA366363855 | PLG | c.370G>T (p.Val124Leu) c.1468G>T (p.Val490Leu) c.1417G>T (p.Val473Leu) n.415G>T n.472G>T | |
| 6 | g.160731212T>A | CA366363856 | PLG | c.371T>A (p.Val124Glu) c.1469T>A (p.Val490Glu) c.1418T>A (p.Val473Glu) n.416T>A n.473T>A | |
| 6 | g.160731212T>C | CA4087775 | PLG | c.371T>C (p.Val124Ala) c.1469T>C (p.Val490Ala) c.1418T>C (p.Val473Ala) n.416T>C n.473T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160731212T>G | CA366363857 | PLG | c.371T>G (p.Val124Gly) c.1469T>G (p.Val490Gly) c.1418T>G (p.Val473Gly) n.416T>G n.473T>G | |
| 6 | g.160731212T= | CA1677201393 | PLG | c.371T= (p.Val124=) c.1469T= (p.Val490=) c.1418T= (p.Val473=) n.416T= n.473T= | |
| 6 | g.160731212_160731214delinsTAG | CA1677201392 | PLG | c.371_373delinsTAG (p.Val124=) c.1469_1471delinsTAG (p.Val490=) c.1418_1420delinsTAG (p.Val473=) n.416_418delinsTAG n.473_475delinsTAG | |
| 6 | g.160731213A>C | CA453028299 | PLG | c.372A>C (p.Val124=) c.1470A>C (p.Val490=) c.1419A>C (p.Val473=) n.417A>C n.474A>C | |
| 6 | g.160731213A>G | CA453028300 | PLG | c.372A>G (p.Val124=) c.1470A>G (p.Val490=) c.1419A>G (p.Val473=) n.417A>G n.474A>G | |
| 6 | g.160731213A>T | CA453028301 | PLG | c.372A>T (p.Val124=) c.1470A>T (p.Val490=) c.1419A>T (p.Val473=) n.417A>T n.474A>T | |
| 6 | g.160731216_160731217del | CA4087776 | PLG | c.375_376del (p.Glu125AspfsTer?) c.1473_1474del (p.Glu491AspfsTer?) c.1422_1423del (p.Glu474AspfsTer?) n.420_421del n.477_478del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.160731214G>A | CA151227181 | PLG | c.373G>A (p.Glu125Lys) c.1471G>A (p.Glu491Lys) c.1420G>A (p.Glu474Lys) n.418G>A n.475G>A | dbSNP gnomAD v4 |
| 6 | g.160731214G>C | CA366363859 | PLG | c.373G>C (p.Glu125Gln) c.1471G>C (p.Glu491Gln) c.1420G>C (p.Glu474Gln) n.418G>C n.475G>C | |
| 6 | g.160731214G= | CA1677201394 | PLG | c.373G= (p.Glu125=) c.1471G= (p.Glu491=) c.1420G= (p.Glu474=) n.418G= n.475G= | |
| 6 | g.160731214G>T | CA366363858 | PLG | c.373G>T (p.Glu125Ter) c.1471G>T (p.Glu491Ter) c.1420G>T (p.Glu474Ter) n.418G>T n.475G>T | |
| 6 | g.160731215A= | CA1677201395 | PLG | c.374A= (p.Glu125=) c.1472A= (p.Glu491=) c.1421A= (p.Glu474=) n.419A= n.476A= | |
| 6 | g.160731215A>C | CA366363860 | PLG | c.374A>C (p.Glu125Ala) c.1472A>C (p.Glu491Ala) c.1421A>C (p.Glu474Ala) n.419A>C n.476A>C | |
| 6 | g.160731215A>G | CA366363861 | PLG | c.374A>G (p.Glu125Gly) c.1472A>G (p.Glu491Gly) c.1421A>G (p.Glu474Gly) n.419A>G n.476A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.160731215A>T | CA366363862 | PLG | c.374A>T (p.Glu125Val) c.1472A>T (p.Glu491Val) c.1421A>T (p.Glu474Val) n.419A>T n.476A>T | |
| 6 | g.160731216G>A | CA453028303 | PLG | c.375G>A (p.Glu125=) c.1473G>A (p.Glu491=) c.1422G>A (p.Glu474=) n.420G>A n.477G>A | dbSNP |
| 6 | g.160731216G>C | CA366363863 | PLG | c.375G>C (p.Glu125Asp) c.1473G>C (p.Glu491Asp) c.1422G>C (p.Glu474Asp) n.420G>C n.477G>C | |
| 6 | g.160731216G= | CA1677201396 | PLG | c.375G= (p.Glu125=) c.1473G= (p.Glu491=) c.1422G= (p.Glu474=) n.420G= n.477G= | |
| 6 | g.160731216G>T | CA366363864 | PLG | c.375G>T (p.Glu125Asp) c.1473G>T (p.Glu491Asp) c.1422G>T (p.Glu474Asp) n.420G>T n.477G>T | |
| 6 | g.160731217A>C | CA366363865 | PLG | c.376A>C (p.Thr126Pro) c.1474A>C (p.Thr492Pro) c.1423A>C (p.Thr475Pro) n.421A>C n.478A>C | |
| 6 | g.160731217A>G | CA366363866 | PLG | c.376A>G (p.Thr126Ala) c.1474A>G (p.Thr492Ala) c.1423A>G (p.Thr475Ala) n.421A>G n.478A>G | |
| 6 | g.160731217A>T | CA366363867 | PLG | c.376A>T (p.Thr126Ser) c.1474A>T (p.Thr492Ser) c.1423A>T (p.Thr475Ser) n.421A>T n.478A>T | |
| 6 | g.160731218C>A | CA366363868 | PLG | c.377C>A (p.Thr126Asn) c.1475C>A (p.Thr492Asn) c.1424C>A (p.Thr475Asn) n.422C>A n.479C>A | |
| 6 | g.160731218C= | CA1677201397 | PLG | c.377C= (p.Thr126=) c.1475C= (p.Thr492=) c.1424C= (p.Thr475=) n.422C= n.479C= | |
| 6 | g.160731218C>G | CA366363869 | PLG | c.377C>G (p.Thr126Ser) c.1475C>G (p.Thr492Ser) c.1424C>G (p.Thr475Ser) n.422C>G n.479C>G | |
| 6 | g.160731218C>T | CA366363870 | PLG | c.377C>T (p.Thr126Ile) c.1475C>T (p.Thr492Ile) c.1424C>T (p.Thr475Ile) n.422C>T n.479C>T | dbSNP gnomAD v4 |
| 6 | g.160731219T>A | CA453028304 | PLG | c.378T>A (p.Thr126=) c.1476T>A (p.Thr492=) c.1425T>A (p.Thr475=) n.423T>A n.480T>A | |
| 6 | g.160731219T>C | CA453028305 | PLG | c.378T>C (p.Thr126=) c.1476T>C (p.Thr492=) c.1425T>C (p.Thr475=) n.423T>C n.480T>C | |
| 6 | g.160731219T>G | CA453028307 | PLG | c.378T>G (p.Thr126=) c.1476T>G (p.Thr492=) c.1425T>G (p.Thr475=) n.423T>G n.480T>G | |
| 6 | g.160731220C>A | CA366363872 | PLG | c.379C>A (p.Pro127Thr) c.1477C>A (p.Pro493Thr) c.1426C>A (p.Pro476Thr) n.424C>A n.481C>A | gnomAD v4 |
| 6 | g.160731220C= | CA1677201398 | PLG | c.379C= (p.Pro127=) c.1477C= (p.Pro493=) c.1426C= (p.Pro476=) n.424C= n.481C= | |
| 6 | g.160731220C>G | CA366363873 | PLG | c.379C>G (p.Pro127Ala) c.1477C>G (p.Pro493Ala) c.1426C>G (p.Pro476Ala) n.424C>G n.481C>G | dbSNP gnomAD v4 |
| 6 | g.160731220C>T | CA366363871 | PLG | c.379C>T (p.Pro127Ser) c.1477C>T (p.Pro493Ser) c.1426C>T (p.Pro476Ser) n.424C>T n.481C>T | gnomAD v4 |