Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23424059C>A | CA389047113 | MYH7 | c.2770G>T (p.Glu924Ter) n.2876G>T | dbSNP gnomAD v4 |
14 | g.23424059C>G | CA389047115 | MYH7 | c.2770G>C (p.Glu924Gln) n.2876G>C | dbSNP |
14 | g.23424059C>T | CA013034 | MYH7 | c.2770G>A (p.Glu924Lys) n.2876G>A | ClinVar dbSNP |