| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049181C>T | CA003514 | BRCA1 | c.5343G>A (p.Trp1781Ter) c.5346G>A (p.Trp1782Ter) c.5220G>A (p.Trp1740Ter) c.5340G>A (p.Trp1780Ter) c.5268G>A (p.Trp1756Ter) c.2034G>A (p.Trp678Ter) c.1896G>A (p.Trp632Ter) c.4458G>A (p.Trp1486Ter) c.5223G>A (p.Trp1741Ter) c.5412G>A (p.Trp1804Ter) c.5205G>A (p.Trp1735Ter) c.1908G>A (p.Trp636Ter) n.1229G>A c.5409G>A (p.Trp1803Ter) c.1733G>A c.1920G>A (p.Trp640Ter) c.*5129G>A (n.*5129G>A) c.2021-1478G>A (n.2021-1478G>A) c.276G>A (p.Trp92Ter) c.819G>A (p.Trp273Ter) c.45G>A (p.Trp15Ter) n.5482G>A n.5523G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43049181C>A | CA10590770 | BRCA1 | c.5343G>T (p.Trp1781Cys) c.5346G>T (p.Trp1782Cys) c.5220G>T (p.Trp1740Cys) c.5340G>T (p.Trp1780Cys) c.5268G>T (p.Trp1756Cys) c.2034G>T (p.Trp678Cys) c.1896G>T (p.Trp632Cys) c.4458G>T (p.Trp1486Cys) c.5223G>T (p.Trp1741Cys) c.5412G>T (p.Trp1804Cys) c.5205G>T (p.Trp1735Cys) c.1908G>T (p.Trp636Cys) n.1229G>T c.5409G>T (p.Trp1803Cys) c.1733G>T c.1920G>T (p.Trp640Cys) c.*5129G>T (n.*5129G>T) c.2021-1478G>T (n.2021-1478G>T) c.276G>T (p.Trp92Cys) c.819G>T (p.Trp273Cys) c.45G>T (p.Trp15Cys) n.5482G>T n.5523G>T | ClinVar dbSNP |
| 17 | g.43049181C>G | CA10590771 | BRCA1 | c.5343G>C (p.Trp1781Cys) c.5346G>C (p.Trp1782Cys) c.5220G>C (p.Trp1740Cys) c.5340G>C (p.Trp1780Cys) c.5268G>C (p.Trp1756Cys) c.2034G>C (p.Trp678Cys) c.1896G>C (p.Trp632Cys) c.4458G>C (p.Trp1486Cys) c.5223G>C (p.Trp1741Cys) c.5412G>C (p.Trp1804Cys) c.5205G>C (p.Trp1735Cys) c.1908G>C (p.Trp636Cys) n.1229G>C c.5409G>C (p.Trp1803Cys) c.1733G>C c.1920G>C (p.Trp640Cys) c.*5129G>C (n.*5129G>C) c.2021-1478G>C (n.2021-1478G>C) c.276G>C (p.Trp92Cys) c.819G>C (p.Trp273Cys) c.45G>C (p.Trp15Cys) n.5482G>C n.5523G>C | ClinVar dbSNP |