| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049164C>T | CA003529 | BRCA1 | c.5360G>A (p.Gly1787Asp) c.5363G>A (p.Gly1788Asp) c.5237G>A (p.Gly1746Asp) c.5357G>A (p.Gly1786Asp) c.5285G>A (p.Gly1762Asp) c.2051G>A (p.Gly684Asp) c.1913G>A (p.Gly638Asp) c.4475G>A (p.Gly1492Asp) c.5240G>A (p.Gly1747Asp) c.5429G>A (p.Gly1810Asp) c.5222G>A (p.Gly1741Asp) c.1925G>A (p.Gly642Asp) n.1246G>A c.5426G>A (p.Gly1809Asp) c.1750G>A c.1937G>A (p.Gly646Asp) c.*5146G>A (n.*5146G>A) c.2021-1461G>A (n.2021-1461G>A) c.293G>A (p.Gly98Asp) c.836G>A (p.Gly279Asp) c.62G>A (p.Gly21Asp) n.5499G>A n.5540G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43049164C>G | CA10590739 | BRCA1 | c.5360G>C (p.Gly1787Ala) c.5363G>C (p.Gly1788Ala) c.5237G>C (p.Gly1746Ala) c.5357G>C (p.Gly1786Ala) c.5285G>C (p.Gly1762Ala) c.2051G>C (p.Gly684Ala) c.1913G>C (p.Gly638Ala) c.4475G>C (p.Gly1492Ala) c.5240G>C (p.Gly1747Ala) c.5429G>C (p.Gly1810Ala) c.5222G>C (p.Gly1741Ala) c.1925G>C (p.Gly642Ala) n.1246G>C c.5426G>C (p.Gly1809Ala) c.1750G>C c.1937G>C (p.Gly646Ala) c.*5146G>C (n.*5146G>C) c.2021-1461G>C (n.2021-1461G>C) c.293G>C (p.Gly98Ala) c.836G>C (p.Gly279Ala) c.62G>C (p.Gly21Ala) n.5499G>C n.5540G>C | ClinVar dbSNP |
| 17 | g.43049164C>A | CA003530 | BRCA1 | c.5360G>T (p.Gly1787Val) c.5363G>T (p.Gly1788Val) c.5237G>T (p.Gly1746Val) c.5357G>T (p.Gly1786Val) c.5285G>T (p.Gly1762Val) c.2051G>T (p.Gly684Val) c.1913G>T (p.Gly638Val) c.4475G>T (p.Gly1492Val) c.5240G>T (p.Gly1747Val) c.5429G>T (p.Gly1810Val) c.5222G>T (p.Gly1741Val) c.1925G>T (p.Gly642Val) n.1246G>T c.5426G>T (p.Gly1809Val) c.1750G>T c.1937G>T (p.Gly646Val) c.*5146G>T (n.*5146G>T) c.2021-1461G>T (n.2021-1461G>T) c.293G>T (p.Gly98Val) c.836G>T (p.Gly279Val) c.62G>T (p.Gly21Val) n.5499G>T n.5540G>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.43049164C= | CA2260762760 | BRCA1 | c.5360G= (p.Gly1787=) c.5363G= (p.Gly1788=) c.5237G= (p.Gly1746=) c.5357G= (p.Gly1786=) c.5285G= (p.Gly1762=) c.2051G= (p.Gly684=) c.1913G= (p.Gly638=) c.4475G= (p.Gly1492=) c.5240G= (p.Gly1747=) c.5429G= (p.Gly1810=) c.5222G= (p.Gly1741=) c.1925G= (p.Gly642=) n.1246G= c.5426G= (p.Gly1809=) c.1750G= c.1937G= (p.Gly646=) c.*5146G= (n.*5146G=) c.2021-1461G= (n.2021-1461G=) c.293G= (p.Gly98=) c.836G= (p.Gly279=) c.62G= (p.Gly21=) n.5499G= n.5540G= | dbSNP |