| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.31132498C>G | CA370919270 | WRN | c.2959C>G (p.Arg987Gly) c.*2573C>G (n.*2573C>G) n.1592C>G c.2878C>G (p.Arg960Gly) c.1360C>G (p.Arg454Gly) n.3232C>G c.2749C>G (p.Arg917Gly) n.3260C>G | ClinVar dbSNP |
| 8 | g.31132498C>T | CA4704889 | WRN | c.2959C>T (p.Arg987Ter) c.*2573C>T (n.*2573C>T) n.1592C>T c.2878C>T (p.Arg960Ter) c.1360C>T (p.Arg454Ter) n.3232C>T c.2749C>T (p.Arg917Ter) n.3260C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |