Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.27136371G>A | CA16044002 | YME1L1 | c.445C>T (p.Arg149Trp) c.616C>T (p.Arg206Trp) c.421C>T (p.Arg141Trp) c.346C>T (p.Arg116Trp) c.169-1390C>T (n.169-1390C>T) c.517C>T (p.Arg173Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.27136371G>C | CA376375933 | YME1L1 | c.445C>G (p.Arg149Gly) c.616C>G (p.Arg206Gly) c.421C>G (p.Arg141Gly) c.346C>G (p.Arg116Gly) c.169-1390C>G (n.169-1390C>G) c.517C>G (p.Arg173Gly) | dbSNP |