Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.31058462del | CA4703954 | WRN | c.15del (p.Lys5AsnfsTer15) n.288del c.-320del (n.-320del) n.316del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.31058462dup | CA580993599 | WRN | c.15dup (p.Leu6IlefsTer12) n.288dup c.-320dup (n.-320dup) n.316dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |