Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.142522760G>C | CA354801119 | ATR | c.4234C>G (p.Arg1412Gly) n.4263C>G c.3024C>G c.4042C>G (p.Arg1348Gly) c.4240C>G (p.Arg1414Gly) c.4048C>G (p.Arg1350Gly) n.4329C>G n.4323C>G | dbSNP |
3 | g.142522760G>A | CA2649901 | ATR | c.4234C>T (p.Arg1412Ter) n.4263C>T c.3024C>T c.4042C>T (p.Arg1348Ter) c.4240C>T (p.Arg1414Ter) c.4048C>T (p.Arg1350Ter) n.4329C>T n.4323C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142522760G>T | CA436113526 | ATR | c.4234C>A (p.Arg1412=) n.4263C>A c.3024C>A c.4042C>A (p.Arg1348=) c.4240C>A (p.Arg1414=) c.4048C>A (p.Arg1350=) n.4329C>A n.4323C>A | dbSNP |