| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47335042G>A | CA013154 | MYBPC3 | c.2905C>T (p.Gln969Ter) c.2887C>T (p.Gln963Ter) c.2824C>T (p.Gln942Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.47335042G>T | CA380316188 | MYBPC3 | c.2905C>A (p.Gln969Lys) c.2887C>A (p.Gln963Lys) c.2824C>A (p.Gln942Lys) | dbSNP gnomAD v4 |
| 11 | g.47335042G= | CA1969336930 | MYBPC3 | c.2905C= (p.Gln969=) c.2887C= (p.Gln963=) c.2824C= (p.Gln942=) | dbSNP |