Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23422291C>A | CA013375 | MYH7 | c.3134G>T (p.Arg1045Leu) n.3240G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23422291C>G | CA389045425 | MYH7 | c.3134G>C (p.Arg1045Pro) n.3240G>C | dbSNP |
14 | g.23422291C>T | CA035801 | MYH7 | c.3134G>A (p.Arg1045His) n.3240G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |