| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049174G>A | CA003519 | BRCA1 | c.5350C>T (p.Gln1784Ter) c.5353C>T (p.Gln1785Ter) c.5227C>T (p.Gln1743Ter) c.5347C>T (p.Gln1783Ter) c.5275C>T (p.Gln1759Ter) c.2041C>T (p.Gln681Ter) c.1903C>T (p.Gln635Ter) c.4465C>T (p.Gln1489Ter) c.5230C>T (p.Gln1744Ter) c.5419C>T (p.Gln1807Ter) c.5212C>T (p.Gln1738Ter) c.1915C>T (p.Gln639Ter) n.1236C>T c.5416C>T (p.Gln1806Ter) c.1740C>T c.1927C>T (p.Gln643Ter) c.*5136C>T (n.*5136C>T) c.2021-1471C>T (n.2021-1471C>T) c.283C>T (p.Gln95Ter) c.826C>T (p.Gln276Ter) c.52C>T (p.Gln18Ter) n.5489C>T n.5530C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43049174G>C | CA10590756 | BRCA1 | c.5350C>G (p.Gln1784Glu) c.5353C>G (p.Gln1785Glu) c.5227C>G (p.Gln1743Glu) c.5347C>G (p.Gln1783Glu) c.5275C>G (p.Gln1759Glu) c.2041C>G (p.Gln681Glu) c.1903C>G (p.Gln635Glu) c.4465C>G (p.Gln1489Glu) c.5230C>G (p.Gln1744Glu) c.5419C>G (p.Gln1807Glu) c.5212C>G (p.Gln1738Glu) c.1915C>G (p.Gln639Glu) n.1236C>G c.5416C>G (p.Gln1806Glu) c.1740C>G c.1927C>G (p.Gln643Glu) c.*5136C>G (n.*5136C>G) c.2021-1471C>G (n.2021-1471C>G) c.283C>G (p.Gln95Glu) c.826C>G (p.Gln276Glu) c.52C>G (p.Gln18Glu) n.5489C>G n.5530C>G | ClinVar dbSNP |
| 17 | g.43049174G>T | CA10590757 | BRCA1 | c.5350C>A (p.Gln1784Lys) c.5353C>A (p.Gln1785Lys) c.5227C>A (p.Gln1743Lys) c.5347C>A (p.Gln1783Lys) c.5275C>A (p.Gln1759Lys) c.2041C>A (p.Gln681Lys) c.1903C>A (p.Gln635Lys) c.4465C>A (p.Gln1489Lys) c.5230C>A (p.Gln1744Lys) c.5419C>A (p.Gln1807Lys) c.5212C>A (p.Gln1738Lys) c.1915C>A (p.Gln639Lys) n.1236C>A c.5416C>A (p.Gln1806Lys) c.1740C>A c.1927C>A (p.Gln643Lys) c.*5136C>A (n.*5136C>A) c.2021-1471C>A (n.2021-1471C>A) c.283C>A (p.Gln95Lys) c.826C>A (p.Gln276Lys) c.52C>A (p.Gln18Lys) n.5489C>A n.5530C>A | ClinVar dbSNP |