Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23425775T>C | CA011954 | MYH7 | c.2206A>G (p.Ile736Val) n.2312A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23425775T>A | CA389048912 | MYH7 | c.2206A>T (p.Ile736Phe) n.2312A>T | ClinVar dbSNP |
14 | g.23425775T= | CA2123458460 | MYH7 | c.2206A= (p.Ile736=) n.2312A= | dbSNP |