| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43057116C>T | CA003365 | BRCA1 | c.5210G>A (p.Gly1737Glu) c.5213G>A (p.Gly1738Glu) c.5087G>A (p.Gly1696Glu) c.5207G>A (p.Gly1736Glu) c.5135G>A (p.Gly1712Glu) c.1901G>A (p.Gly634Glu) c.1763G>A (p.Gly588Glu) c.4325G>A (p.Gly1442Glu) c.5090G>A (p.Gly1697Glu) c.5279G>A (p.Gly1760Glu) c.5072G>A (p.Gly1691Glu) c.1775G>A (p.Gly592Glu) c.5276G>A (p.Gly1759Glu) c.1600G>A c.1787G>A (p.Gly596Glu) c.*4996G>A (n.*4996G>A) c.143G>A (p.Gly48Glu) c.686G>A (p.Gly229Glu) c.-98-6926G>A (n.-98-6926G>A) n.5349G>A n.5390G>A | ClinVar dbSNP |
| 17 | g.43057116C>A | CA10591112 | BRCA1 | c.5210G>T (p.Gly1737Val) c.5213G>T (p.Gly1738Val) c.5087G>T (p.Gly1696Val) c.5207G>T (p.Gly1736Val) c.5135G>T (p.Gly1712Val) c.1901G>T (p.Gly634Val) c.1763G>T (p.Gly588Val) c.4325G>T (p.Gly1442Val) c.5090G>T (p.Gly1697Val) c.5279G>T (p.Gly1760Val) c.5072G>T (p.Gly1691Val) c.1775G>T (p.Gly592Val) c.5276G>T (p.Gly1759Val) c.1600G>T c.1787G>T (p.Gly596Val) c.*4996G>T (n.*4996G>T) c.143G>T (p.Gly48Val) c.686G>T (p.Gly229Val) c.-98-6926G>T (n.-98-6926G>T) n.5349G>T n.5390G>T | ClinVar dbSNP |
| 17 | g.43057116C>G | CA10591113 | BRCA1 | c.5210G>C (p.Gly1737Ala) c.5213G>C (p.Gly1738Ala) c.5087G>C (p.Gly1696Ala) c.5207G>C (p.Gly1736Ala) c.5135G>C (p.Gly1712Ala) c.1901G>C (p.Gly634Ala) c.1763G>C (p.Gly588Ala) c.4325G>C (p.Gly1442Ala) c.5090G>C (p.Gly1697Ala) c.5279G>C (p.Gly1760Ala) c.5072G>C (p.Gly1691Ala) c.1775G>C (p.Gly592Ala) c.5276G>C (p.Gly1759Ala) c.1600G>C c.1787G>C (p.Gly596Ala) c.*4996G>C (n.*4996G>C) c.143G>C (p.Gly48Ala) c.686G>C (p.Gly229Ala) c.-98-6926G>C (n.-98-6926G>C) n.5349G>C n.5390G>C | ClinVar dbSNP |