| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43090981G>T | CA10593424 | BRCA1 | c.4148C>A (p.Ser1383Ter) c.4022C>A (p.Ser1341Ter) c.4145C>A (p.Ser1382Ter) c.4070C>A (p.Ser1357Ter) c.836C>A (p.Ser279Ter) c.698C>A (p.Ser233Ter) c.3260C>A (p.Ser1087Ter) c.4025C>A (p.Ser1342Ter) c.4007C>A (p.Ser1336Ter) c.716C>A (p.Ser239Ter) c.758C>A (p.Ser253Ter) c.469C>A c.722C>A (p.Ser241Ter) c.*3931C>A (n.*3931C>A) c.442C>A c.839C>A (p.Ser280Ter) c.461C>A (p.Ser154Ter) c.464C>A (p.Ser155Ter) c.5-27030C>A (n.5-27030C>A) c.-43-16460C>A (n.-43-16460C>A) c.-99+34290C>A (n.-99+34290C>A) n.4284C>A n.4325C>A | dbSNP |
| 17 | g.43090981G>C | CA002657 | BRCA1 | c.4148C>G (p.Ser1383Ter) c.4022C>G (p.Ser1341Ter) c.4145C>G (p.Ser1382Ter) c.4070C>G (p.Ser1357Ter) c.836C>G (p.Ser279Ter) c.698C>G (p.Ser233Ter) c.3260C>G (p.Ser1087Ter) c.4025C>G (p.Ser1342Ter) c.4007C>G (p.Ser1336Ter) c.716C>G (p.Ser239Ter) c.758C>G (p.Ser253Ter) c.469C>G c.722C>G (p.Ser241Ter) c.*3931C>G (n.*3931C>G) c.442C>G c.839C>G (p.Ser280Ter) c.461C>G (p.Ser154Ter) c.464C>G (p.Ser155Ter) c.5-27030C>G (n.5-27030C>G) c.-43-16460C>G (n.-43-16460C>G) c.-99+34290C>G (n.-99+34290C>G) n.4284C>G n.4325C>G | ClinVar dbSNP |
| 17 | g.43090981G>A | CA10593423 | BRCA1 | c.4148C>T (p.Ser1383Leu) c.4022C>T (p.Ser1341Leu) c.4145C>T (p.Ser1382Leu) c.4070C>T (p.Ser1357Leu) c.836C>T (p.Ser279Leu) c.698C>T (p.Ser233Leu) c.3260C>T (p.Ser1087Leu) c.4025C>T (p.Ser1342Leu) c.4007C>T (p.Ser1336Leu) c.716C>T (p.Ser239Leu) c.758C>T (p.Ser253Leu) c.469C>T c.722C>T (p.Ser241Leu) c.*3931C>T (n.*3931C>T) c.442C>T c.839C>T (p.Ser280Leu) c.461C>T (p.Ser154Leu) c.464C>T (p.Ser155Leu) c.5-27030C>T (n.5-27030C>T) c.-43-16460C>T (n.-43-16460C>T) c.-99+34290C>T (n.-99+34290C>T) n.4284C>T n.4325C>T | ClinVar dbSNP |
| 17 | g.43090981G= | CA2260781675 | BRCA1 | c.4148C= (p.Ser1383=) c.4022C= (p.Ser1341=) c.4145C= (p.Ser1382=) c.4070C= (p.Ser1357=) c.836C= (p.Ser279=) c.698C= (p.Ser233=) c.3260C= (p.Ser1087=) c.4025C= (p.Ser1342=) c.4007C= (p.Ser1336=) c.716C= (p.Ser239=) c.758C= (p.Ser253=) c.469C= c.722C= (p.Ser241=) c.*3931C= (n.*3931C=) c.442C= c.839C= (p.Ser280=) c.461C= (p.Ser154=) c.464C= (p.Ser155=) c.5-27030C= (n.5-27030C=) c.-43-16460C= (n.-43-16460C=) c.-99+34290C= (n.-99+34290C=) n.4284C= n.4325C= | dbSNP |