| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89315318C>T | CA251645 | FANCI,POLG | c.3574C>T (p.Arg1192Ter) c.3316C>T (p.Arg1106Ter) c.3853C>T (p.Arg1285Ter) n.5438C>T c.73+1388G>A c.3985C>T (p.Arg1329Ter) n.3058C>T c.3811C>T (p.Arg1271Ter) n.3434C>T c.3673C>T (p.Arg1225Ter) c.*197C>T (n.*197C>T) c.3149C>T n.436C>T n.3860C>T c.3508C>T (p.Arg1170Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89315318C>G | CA393744677 | FANCI,POLG | c.3574C>G (p.Arg1192Gly) c.3316C>G (p.Arg1106Gly) c.3853C>G (p.Arg1285Gly) n.5438C>G c.73+1388G>C c.3985C>G (p.Arg1329Gly) n.3058C>G c.3811C>G (p.Arg1271Gly) n.3434C>G c.3673C>G (p.Arg1225Gly) c.*197C>G (n.*197C>G) c.3149C>G n.436C>G n.3860C>G c.3508C>G (p.Arg1170Gly) | dbSNP gnomAD v4 |
| 15 | g.89315318C= | CA2194534441 | FANCI,POLG | c.3574C= (p.Arg1192=) c.3316C= (p.Arg1106=) c.3853C= (p.Arg1285=) n.5438C= c.73+1388G= c.3985C= (p.Arg1329=) n.3058C= c.3811C= (p.Arg1271=) n.3434C= c.3673C= (p.Arg1225=) c.*197C= (n.*197C=) c.3149C= n.436C= n.3860C= c.3508C= (p.Arg1170=) | dbSNP |