| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.98534325C>T | CA134820 | TMPO | c.565+2487C>T (n.565+2487C>T) c.2068C>T (p.Arg690Cys) n.643+2487C>T c.286+2487C>T (n.286+2487C>T) c.1162C>T (p.Arg388Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.98534325C= | CA2057673584 | TMPO | c.565+2487C= (n.565+2487C=) c.2068C= (p.Arg690=) n.643+2487C= c.286+2487C= (n.286+2487C=) c.1162C= (p.Arg388=) | dbSNP |