| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132948928C>T | CA4884470 | TG | c.5386C>T (p.Gln1796Ter) c.752C>T c.2041C>T c.5194C>T (p.Gln1732Ter) c.5215C>T (p.Gln1739Ter) c.5167C>T (p.Gln1723Ter) c.5125C>T (p.Gln1709Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132948928C>A | CA372228576 | TG | c.5386C>A (p.Gln1796Lys) c.752C>A c.2041C>A c.5194C>A (p.Gln1732Lys) c.5215C>A (p.Gln1739Lys) c.5167C>A (p.Gln1723Lys) c.5125C>A (p.Gln1709Lys) | dbSNP gnomAD v4 COSMIC |
| 8 | g.132948928C= | CA1821022857 | TG | c.5386C= (p.Gln1796=) c.752C= c.2041C= c.5194C= (p.Gln1732=) c.5215C= (p.Gln1739=) c.5167C= (p.Gln1723=) c.5125C= (p.Gln1709=) | dbSNP |