| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.74112086C>T | CA121939 | VCL | c.2923C>T (p.Arg975Trp) c.2746-2098C>T (n.2746-2098C>T) c.1939C>T (p.Arg647Trp) n.5549-2098C>T c.*2678C>T (n.*2678C>T) c.2926C>T (p.Arg976Trp) c.2749-2098C>T (n.2749-2098C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74112086C= | CA1919905825 | VCL | c.2923C= (p.Arg975=) c.2746-2098C= (n.2746-2098C=) c.1939C= (p.Arg647=) n.5549-2098C= c.*2678C= (n.*2678C=) c.2926C= (p.Arg976=) c.2749-2098C= (n.2749-2098C=) | dbSNP |