Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23422267C>T | CA013417 | MYH7 | c.3158G>A (p.Arg1053Gln) n.3264G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23422267C= | CA2123450725 | MYH7 | c.3158G= (p.Arg1053=) n.3264G= | dbSNP |
14 | g.23422267C>A | CA389045348 | MYH7 | c.3158G>T (p.Arg1053Leu) n.3264G>T | ClinVar dbSNP |