Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47338563G>T | CA16613387 | MYBPC3 | c.2265C>A (p.Asn755Lys) c.2247C>A (p.Asn749Lys) c.2184C>A (p.Asn728Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338563G= | CA1969332289 | MYBPC3 | c.2265C= (p.Asn755=) c.2247C= (p.Asn749=) c.2184C= (p.Asn728=) | dbSNP |