| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049182C>T | CA003512 | BRCA1 | c.5342G>A (p.Trp1781Ter) c.5345G>A (p.Trp1782Ter) c.5219G>A (p.Trp1740Ter) c.5339G>A (p.Trp1780Ter) c.5267G>A (p.Trp1756Ter) c.2033G>A (p.Trp678Ter) c.1895G>A (p.Trp632Ter) c.4457G>A (p.Trp1486Ter) c.5222G>A (p.Trp1741Ter) c.5411G>A (p.Trp1804Ter) c.5204G>A (p.Trp1735Ter) c.1907G>A (p.Trp636Ter) n.1228G>A c.5408G>A (p.Trp1803Ter) c.1732G>A c.1919G>A (p.Trp640Ter) c.*5128G>A (n.*5128G>A) c.2021-1479G>A (n.2021-1479G>A) c.275G>A (p.Trp92Ter) c.818G>A (p.Trp273Ter) c.44G>A (p.Trp15Ter) n.5481G>A n.5522G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43049182C>A | CA10590772 | BRCA1 | c.5342G>T (p.Trp1781Leu) c.5345G>T (p.Trp1782Leu) c.5219G>T (p.Trp1740Leu) c.5339G>T (p.Trp1780Leu) c.5267G>T (p.Trp1756Leu) c.2033G>T (p.Trp678Leu) c.1895G>T (p.Trp632Leu) c.4457G>T (p.Trp1486Leu) c.5222G>T (p.Trp1741Leu) c.5411G>T (p.Trp1804Leu) c.5204G>T (p.Trp1735Leu) c.1907G>T (p.Trp636Leu) n.1228G>T c.5408G>T (p.Trp1803Leu) c.1732G>T c.1919G>T (p.Trp640Leu) c.*5128G>T (n.*5128G>T) c.2021-1479G>T (n.2021-1479G>T) c.275G>T (p.Trp92Leu) c.818G>T (p.Trp273Leu) c.44G>T (p.Trp15Leu) n.5481G>T n.5522G>T | ClinVar dbSNP |
| 17 | g.43049182C>G | CA10590773 | BRCA1 | c.5342G>C (p.Trp1781Ser) c.5345G>C (p.Trp1782Ser) c.5219G>C (p.Trp1740Ser) c.5339G>C (p.Trp1780Ser) c.5267G>C (p.Trp1756Ser) c.2033G>C (p.Trp678Ser) c.1895G>C (p.Trp632Ser) c.4457G>C (p.Trp1486Ser) c.5222G>C (p.Trp1741Ser) c.5411G>C (p.Trp1804Ser) c.5204G>C (p.Trp1735Ser) c.1907G>C (p.Trp636Ser) n.1228G>C c.5408G>C (p.Trp1803Ser) c.1732G>C c.1919G>C (p.Trp640Ser) c.*5128G>C (n.*5128G>C) c.2021-1479G>C (n.2021-1479G>C) c.275G>C (p.Trp92Ser) c.818G>C (p.Trp273Ser) c.44G>C (p.Trp15Ser) n.5481G>C n.5522G>C | ClinVar dbSNP |