| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049140G>C | CA10590700 | BRCA1 | c.5384C>G (p.Ser1795Ter) c.5387C>G (p.Ser1796Ter) c.5261C>G (p.Ser1754Ter) c.5381C>G (p.Ser1794Ter) c.5309C>G (p.Ser1770Ter) c.2075C>G (p.Ser692Ter) c.1937C>G (p.Ser646Ter) c.4499C>G (p.Ser1500Ter) c.5264C>G (p.Ser1755Ter) c.5453C>G (p.Ser1818Ter) c.5246C>G (p.Ser1749Ter) c.1949C>G (p.Ser650Ter) n.1270C>G c.5450C>G (p.Ser1817Ter) c.1774C>G c.1961C>G (p.Ser654Ter) c.*5170C>G (n.*5170C>G) c.2021-1437C>G (n.2021-1437C>G) c.317C>G (p.Ser106Ter) c.860C>G (p.Ser287Ter) c.86C>G (p.Ser29Ter) n.5523C>G n.5564C>G | ClinVar dbSNP |
| 17 | g.43049140G>A | CA10590699 | BRCA1 | c.5384C>T (p.Ser1795Leu) c.5387C>T (p.Ser1796Leu) c.5261C>T (p.Ser1754Leu) c.5381C>T (p.Ser1794Leu) c.5309C>T (p.Ser1770Leu) c.2075C>T (p.Ser692Leu) c.1937C>T (p.Ser646Leu) c.4499C>T (p.Ser1500Leu) c.5264C>T (p.Ser1755Leu) c.5453C>T (p.Ser1818Leu) c.5246C>T (p.Ser1749Leu) c.1949C>T (p.Ser650Leu) n.1270C>T c.5450C>T (p.Ser1817Leu) c.1774C>T c.1961C>T (p.Ser654Leu) c.*5170C>T (n.*5170C>T) c.2021-1437C>T (n.2021-1437C>T) c.317C>T (p.Ser106Leu) c.860C>T (p.Ser287Leu) c.86C>T (p.Ser29Leu) n.5523C>T n.5564C>T | ClinVar dbSNP |
| 17 | g.43049140G>T | CA003546 | BRCA1 | c.5384C>A (p.Ser1795Ter) c.5387C>A (p.Ser1796Ter) c.5261C>A (p.Ser1754Ter) c.5381C>A (p.Ser1794Ter) c.5309C>A (p.Ser1770Ter) c.2075C>A (p.Ser692Ter) c.1937C>A (p.Ser646Ter) c.4499C>A (p.Ser1500Ter) c.5264C>A (p.Ser1755Ter) c.5453C>A (p.Ser1818Ter) c.5246C>A (p.Ser1749Ter) c.1949C>A (p.Ser650Ter) n.1270C>A c.5450C>A (p.Ser1817Ter) c.1774C>A c.1961C>A (p.Ser654Ter) c.*5170C>A (n.*5170C>A) c.2021-1437C>A (n.2021-1437C>A) c.317C>A (p.Ser106Ter) c.860C>A (p.Ser287Ter) c.86C>A (p.Ser29Ter) n.5523C>A n.5564C>A | ClinVar dbSNP |