Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.55154806G>T | CA407441130 | TNNI3 | c.307C>A (p.Arg103Ser) n.306C>A n.315C>A n.491C>A c.926C>A c.232C>A (p.Arg78Ser) n.479C>A | ClinVar dbSNP |
19 | g.55154806G>A | CA021492 | TNNI3 | c.307C>T (p.Arg103Cys) n.306C>T n.315C>T n.491C>T c.926C>T c.232C>T (p.Arg78Cys) n.479C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154806G>C | CA338104 | TNNI3 | c.307C>G (p.Arg103Gly) n.306C>G n.315C>G n.491C>G c.926C>G c.232C>G (p.Arg78Gly) n.479C>G | ClinVar dbSNP gnomAD v4 |