| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132923397C>T | CA210698 | TG | c.4588C>T (p.Arg1530Ter) c.146C>T c.1243C>T c.4528+3872C>T (n.4528+3872C>T) c.4369C>T (p.Arg1457Ter) c.4327C>T (p.Arg1443Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132923397C>G | CA372247939 | TG | c.4588C>G (p.Arg1530Gly) c.146C>G c.1243C>G c.4528+3872C>G (n.4528+3872C>G) c.4369C>G (p.Arg1457Gly) c.4327C>G (p.Arg1443Gly) | dbSNP gnomAD v2 |
| 8 | g.132923397C>A | CA463012990 | TG | c.4588C>A (p.Arg1530=) c.146C>A c.1243C>A c.4528+3872C>A (n.4528+3872C>A) c.4369C>A (p.Arg1457=) c.4327C>A (p.Arg1443=) | dbSNP gnomAD v4 |
| 8 | g.132923397C= | CA1821010917 | TG | c.4588C= (p.Arg1530=) c.146C= c.1243C= c.4528+3872C= (n.4528+3872C=) c.4369C= (p.Arg1457=) c.4327C= (p.Arg1443=) | dbSNP |