Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.50268255G>T | CA129426 | MYH14 | c.2822G>T (p.Arg941Leu) c.2921G>T (p.Arg974Leu) c.2798G>T (p.Arg933Leu) c.-727-7736G>T (n.-727-7736G>T) c.2942G>T (p.Arg981Leu) c.2918G>T (p.Arg973Leu) c.2846G>T (p.Arg949Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.50268255G>A | CA9593076 | MYH14 | c.2822G>A (p.Arg941His) c.2921G>A (p.Arg974His) c.2798G>A (p.Arg933His) c.-727-7736G>A (n.-727-7736G>A) c.2942G>A (p.Arg981His) c.2918G>A (p.Arg973His) c.2846G>A (p.Arg949His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |