Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23403422A>G | CA389028368 | MYH6 | c.824T>C (p.Ile275Thr) n.891T>C n.878T>C | ClinVar dbSNP gnomAD v4 |
14 | g.23403422A>C | CA389028366 | MYH6 | c.824T>G (p.Ile275Ser) n.891T>G n.878T>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23403422A>T | CA134496 | MYH6 | c.824T>A (p.Ile275Asn) n.891T>A n.878T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |