Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47342611C>T | CA010674 | MYBPC3 | c.1591G>A (p.Gly531Arg) c.1573G>A (p.Gly525Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342611C>A | CA221695735 | MYBPC3 | c.1591G>T (p.Gly531Trp) c.1573G>T (p.Gly525Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342611C>G | CA010681 | MYBPC3 | c.1591G>C (p.Gly531Arg) c.1573G>C (p.Gly525Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |