Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110915743G>A | CA009880 | MYL2 | c.141C>T (p.Asn47=) c.84C>T (p.Asn28=) c.94-1419C>T (n.94-1419C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.110915743G>T | CA009871 | MYL2 | c.141C>A (p.Asn47Lys) c.84C>A (p.Asn28Lys) c.94-1419C>A (n.94-1419C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |