| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43074430C>G | CA10592362 | BRCA1 | c.4573G>C (p.Glu1525Gln) c.4576G>C (p.Glu1526Gln) c.4450G>C (p.Glu1484Gln) c.4570G>C (p.Glu1524Gln) c.4498G>C (p.Glu1500Gln) c.1264G>C (p.Glu422Gln) c.1126G>C (p.Glu376Gln) c.3688G>C (p.Glu1230Gln) c.4453G>C (p.Glu1485Gln) c.4642G>C (p.Glu1548Gln) c.4435G>C (p.Glu1479Gln) c.1138G>C (p.Glu380Gln) c.1183G>C (p.Glu395Gln) c.4639G>C (p.Glu1547Gln) c.963G>C c.1150G>C (p.Glu384Gln) c.*4359G>C (n.*4359G>C) c.889G>C (p.Glu297Gln) c.5-10479G>C (n.5-10479G>C) c.49G>C (p.Glu17Gln) c.-98-24240G>C (n.-98-24240G>C) n.4712G>C n.4753G>C | ClinVar dbSNP |
| 17 | g.43074430C>A | CA10581598 | BRCA1 | c.4573G>T (p.Glu1525Ter) c.4576G>T (p.Glu1526Ter) c.4450G>T (p.Glu1484Ter) c.4570G>T (p.Glu1524Ter) c.4498G>T (p.Glu1500Ter) c.1264G>T (p.Glu422Ter) c.1126G>T (p.Glu376Ter) c.3688G>T (p.Glu1230Ter) c.4453G>T (p.Glu1485Ter) c.4642G>T (p.Glu1548Ter) c.4435G>T (p.Glu1479Ter) c.1138G>T (p.Glu380Ter) c.1183G>T (p.Glu395Ter) c.4639G>T (p.Glu1547Ter) c.963G>T c.1150G>T (p.Glu384Ter) c.*4359G>T (n.*4359G>T) c.889G>T (p.Glu297Ter) c.5-10479G>T (n.5-10479G>T) c.49G>T (p.Glu17Ter) c.-98-24240G>T (n.-98-24240G>T) n.4712G>T n.4753G>T | ClinVar dbSNP |
| 17 | g.43074430C>T | CA10592363 | BRCA1 | c.4573G>A (p.Glu1525Lys) c.4576G>A (p.Glu1526Lys) c.4450G>A (p.Glu1484Lys) c.4570G>A (p.Glu1524Lys) c.4498G>A (p.Glu1500Lys) c.1264G>A (p.Glu422Lys) c.1126G>A (p.Glu376Lys) c.3688G>A (p.Glu1230Lys) c.4453G>A (p.Glu1485Lys) c.4642G>A (p.Glu1548Lys) c.4435G>A (p.Glu1479Lys) c.1138G>A (p.Glu380Lys) c.1183G>A (p.Glu395Lys) c.4639G>A (p.Glu1547Lys) c.963G>A c.1150G>A (p.Glu384Lys) c.*4359G>A (n.*4359G>A) c.889G>A (p.Glu297Lys) c.5-10479G>A (n.5-10479G>A) c.49G>A (p.Glu17Lys) c.-98-24240G>A (n.-98-24240G>A) n.4712G>A n.4753G>A | ClinVar dbSNP |