Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23424912C>T | CA389048208 | MYH7 | c.2536G>A (p.Glu846Lys) n.2642G>A | ClinVar dbSNP |
14 | g.23424912C>G | CA012562 | MYH7 | c.2536G>C (p.Glu846Gln) n.2642G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23424912C= | CA2123456208 | MYH7 | c.2536G= (p.Glu846=) n.2642G= | dbSNP |