Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.15737617C>A | CA394863431 | MYH11 | c.3125G>T (p.Arg1042Leu) c.3146G>T (p.Arg1049Leu) c.*1308G>T (n.*1308G>T) | dbSNP gnomAD v4 |
16 | g.15737617C>T | CA306519 | MYH11 | c.3125G>A (p.Arg1042Gln) c.3146G>A (p.Arg1049Gln) c.*1308G>A (n.*1308G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |