Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11755064A>G | CA212676 | GATA4 | c.928A>G (p.Met310Val) c.931A>G (p.Met311Val) c.310A>G (p.Met104Val) c.925A>G (p.Met309Val) c.184A>G (p.Met62Val) | ClinVar dbSNP |
8 | g.11755064A>T | CA370314375 | GATA4 | c.928A>T (p.Met310Leu) c.931A>T (p.Met311Leu) c.310A>T (p.Met104Leu) c.925A>T (p.Met309Leu) c.184A>T (p.Met62Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11755064A>C | CA370314374 | GATA4 | c.928A>C (p.Met310Leu) c.931A>C (p.Met311Leu) c.310A>C (p.Met104Leu) c.925A>C (p.Met309Leu) c.184A>C (p.Met62Leu) | ClinVar dbSNP |