| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43057117C>A | CA10589610 | BRCA1 | c.5209G>T (p.Gly1737Ter) c.5212G>T (p.Gly1738Ter) c.5086G>T (p.Gly1696Ter) c.5206G>T (p.Gly1736Ter) c.5134G>T (p.Gly1712Ter) c.1900G>T (p.Gly634Ter) c.1762G>T (p.Gly588Ter) c.4324G>T (p.Gly1442Ter) c.5089G>T (p.Gly1697Ter) c.5278G>T (p.Gly1760Ter) c.5071G>T (p.Gly1691Ter) c.1774G>T (p.Gly592Ter) c.5275G>T (p.Gly1759Ter) c.1599G>T c.1786G>T (p.Gly596Ter) c.*4995G>T (n.*4995G>T) c.142G>T (p.Gly48Ter) c.685G>T (p.Gly229Ter) c.-98-6927G>T (n.-98-6927G>T) n.5348G>T n.5389G>T | ClinVar dbSNP |
| 17 | g.43057117C>G | CA10591114 | BRCA1 | c.5209G>C (p.Gly1737Arg) c.5212G>C (p.Gly1738Arg) c.5086G>C (p.Gly1696Arg) c.5206G>C (p.Gly1736Arg) c.5134G>C (p.Gly1712Arg) c.1900G>C (p.Gly634Arg) c.1762G>C (p.Gly588Arg) c.4324G>C (p.Gly1442Arg) c.5089G>C (p.Gly1697Arg) c.5278G>C (p.Gly1760Arg) c.5071G>C (p.Gly1691Arg) c.1774G>C (p.Gly592Arg) c.5275G>C (p.Gly1759Arg) c.1599G>C c.1786G>C (p.Gly596Arg) c.*4995G>C (n.*4995G>C) c.142G>C (p.Gly48Arg) c.685G>C (p.Gly229Arg) c.-98-6927G>C (n.-98-6927G>C) n.5348G>C n.5389G>C | ClinVar dbSNP |
| 17 | g.43057117C>T | CA003363 | BRCA1 | c.5209G>A (p.Gly1737Arg) c.5212G>A (p.Gly1738Arg) c.5086G>A (p.Gly1696Arg) c.5206G>A (p.Gly1736Arg) c.5134G>A (p.Gly1712Arg) c.1900G>A (p.Gly634Arg) c.1762G>A (p.Gly588Arg) c.4324G>A (p.Gly1442Arg) c.5089G>A (p.Gly1697Arg) c.5278G>A (p.Gly1760Arg) c.5071G>A (p.Gly1691Arg) c.1774G>A (p.Gly592Arg) c.5275G>A (p.Gly1759Arg) c.1599G>A c.1786G>A (p.Gly596Arg) c.*4995G>A (n.*4995G>A) c.142G>A (p.Gly48Arg) c.685G>A (p.Gly229Arg) c.-98-6927G>A (n.-98-6927G>A) n.5348G>A n.5389G>A | ClinVar dbSNP |