| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.70432151C>T | CA340838710 | CTH | c.793C>T (p.Arg265Ter) c.661C>T (p.Arg221Ter) c.697C>T (p.Arg233Ter) c.466C>T (p.Arg156Ter) c.223C>T (p.Arg75Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.70432151C>A | CA906293 | CTH | c.793C>A (p.Arg265=) c.661C>A (p.Arg221=) c.697C>A (p.Arg233=) c.466C>A (p.Arg156=) c.223C>A (p.Arg75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.70432151C= | CA1174411183 | CTH | c.793C= (p.Arg265=) c.661C= (p.Arg221=) c.697C= (p.Arg233=) c.466C= (p.Arg156=) c.223C= (p.Arg75=) | dbSNP |
| 1 | g.70432151C>G | CA340838709 | CTH | c.793C>G (p.Arg265Gly) c.661C>G (p.Arg221Gly) c.697C>G (p.Arg233Gly) c.466C>G (p.Arg156Gly) c.223C>G (p.Arg75Gly) | dbSNP gnomAD v4 |