| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045761A>G | CA003680 | BRCA1 | c.5506T>C (p.Trp1836Arg) c.5509T>C (p.Trp1837Arg) c.5383T>C (p.Trp1795Arg) c.5503T>C (p.Trp1835Arg) c.5431T>C (p.Trp1811Arg) c.2197T>C (p.Trp733Arg) c.2059T>C (p.Trp687Arg) c.4621T>C (p.Trp1541Arg) c.5386T>C (p.Trp1796Arg) c.5575T>C (p.Trp1859Arg) c.5368T>C (p.Trp1790Arg) c.2071T>C (p.Trp691Arg) n.1392T>C n.873T>C c.5572T>C (p.Trp1858Arg) c.1896T>C c.2083T>C (p.Trp695Arg) c.*5292T>C (n.*5292T>C) c.*23T>C (n.*23T>C) c.439T>C (p.Trp147Arg) c.982T>C (p.Trp328Arg) c.208T>C (p.Trp70Arg) n.5645T>C n.5686T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045761A>C | CA003681 | BRCA1 | c.5506T>G (p.Trp1836Gly) c.5509T>G (p.Trp1837Gly) c.5383T>G (p.Trp1795Gly) c.5503T>G (p.Trp1835Gly) c.5431T>G (p.Trp1811Gly) c.2197T>G (p.Trp733Gly) c.2059T>G (p.Trp687Gly) c.4621T>G (p.Trp1541Gly) c.5386T>G (p.Trp1796Gly) c.5575T>G (p.Trp1859Gly) c.5368T>G (p.Trp1790Gly) c.2071T>G (p.Trp691Gly) n.1392T>G n.873T>G c.5572T>G (p.Trp1858Gly) c.1896T>G c.2083T>G (p.Trp695Gly) c.*5292T>G (n.*5292T>G) c.*23T>G (n.*23T>G) c.439T>G (p.Trp147Gly) c.982T>G (p.Trp328Gly) c.208T>G (p.Trp70Gly) n.5645T>G n.5686T>G | ClinVar dbSNP |
| 17 | g.43045761A>T | CA10590297 | BRCA1 | c.5506T>A (p.Trp1836Arg) c.5509T>A (p.Trp1837Arg) c.5383T>A (p.Trp1795Arg) c.5503T>A (p.Trp1835Arg) c.5431T>A (p.Trp1811Arg) c.2197T>A (p.Trp733Arg) c.2059T>A (p.Trp687Arg) c.4621T>A (p.Trp1541Arg) c.5386T>A (p.Trp1796Arg) c.5575T>A (p.Trp1859Arg) c.5368T>A (p.Trp1790Arg) c.2071T>A (p.Trp691Arg) n.1392T>A n.873T>A c.5572T>A (p.Trp1858Arg) c.1896T>A c.2083T>A (p.Trp695Arg) c.*5292T>A (n.*5292T>A) c.*23T>A (n.*23T>A) c.439T>A (p.Trp147Arg) c.982T>A (p.Trp328Arg) c.208T>A (p.Trp70Arg) n.5645T>A n.5686T>A | ClinVar dbSNP |