| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.31064934A>T | CA029095 | WRN | c.375A>T (p.Lys125Asn) c.229A>T (p.Asn77Tyr) n.648A>T c.165A>T (p.Lys55Asn) n.676A>T | ClinVar dbSNP |
| 8 | g.31064934A= | CA3156170544 | WRN | c.375A= (p.Lys125=) c.229A= (p.Asn77=) n.648A= c.165A= (p.Lys55=) n.676A= | dbSNP |
| 8 | g.31064934A>G | CA460219822 | WRN | c.375A>G (p.Lys125=) c.229A>G (p.Asn77Asp) n.648A>G c.165A>G (p.Lys55=) n.676A>G | dbSNP gnomAD v4 |