| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46411840C>T | CA250510 | PCNT | n.112C>T c.5800C>T (p.Arg1934Ter) c.*5010C>T (n.*5010C>T) c.5767C>T (p.Arg1923Ter) n.6036C>T c.5413C>T (p.Arg1805Ter) c.5878C>T (p.Arg1960Ter) c.5848C>T (p.Arg1950Ter) c.5446C>T (p.Arg1816Ter) c.4684C>T (p.Arg1562Ter) c.3580C>T (p.Arg1194Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.46411840C= | CA2392665085 | PCNT | n.112C= c.5800C= (p.Arg1934=) c.*5010C= (n.*5010C=) c.5767C= (p.Arg1923=) n.6036C= c.5413C= (p.Arg1805=) c.5878C= (p.Arg1960=) c.5848C= (p.Arg1950=) c.5446C= (p.Arg1816=) c.4684C= (p.Arg1562=) c.3580C= (p.Arg1194=) | dbSNP |