| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.31147397C>A | CA370925742 | WRN | c.3493C>A (p.Gln1165Lys) c.*3107C>A (n.*3107C>A) n.2126C>A c.3412C>A (p.Gln1138Lys) c.1894C>A (p.Gln632Lys) n.3766C>A n.614+1111G>T c.3283C>A (p.Gln1095Lys) n.3794C>A | dbSNP |
| 8 | g.31147397C>T | CA253485 | WRN | c.3493C>T (p.Gln1165Ter) c.*3107C>T (n.*3107C>T) n.2126C>T c.3412C>T (p.Gln1138Ter) c.1894C>T (p.Gln632Ter) n.3766C>T n.614+1111G>A c.3283C>T (p.Gln1095Ter) n.3794C>T | ClinVar dbSNP gnomAD v4 |