| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43076488C>T | CA002875 | BRCA1 | c.4481G>A (p.Arg1494Lys) c.4484G>A (p.Arg1495Lys) c.4358G>A (p.Arg1453Lys) c.4478G>A (p.Arg1493Lys) c.4406G>A (p.Arg1469Lys) c.1172G>A (p.Arg391Lys) c.1034G>A (p.Arg345Lys) c.3596G>A (p.Arg1199Lys) c.4361G>A (p.Arg1454Lys) c.4550G>A (p.Arg1517Lys) c.4343G>A (p.Arg1448Lys) c.1046G>A (p.Arg349Lys) c.1091G>A (p.Arg364Lys) c.4547G>A (p.Arg1516Lys) c.871G>A c.1058G>A (p.Arg353Lys) c.*4267G>A (n.*4267G>A) c.797G>A (p.Arg266Lys) c.800G>A c.5-12537G>A (n.5-12537G>A) c.-43-1967G>A (n.-43-1967G>A) c.-98-26298G>A (n.-98-26298G>A) n.375G>A n.4620G>A n.4661G>A | ClinVar dbSNP |
| 17 | g.43076488C>A | CA002876 | BRCA1 | c.4481G>T (p.Arg1494Met) c.4484G>T (p.Arg1495Met) c.4358G>T (p.Arg1453Met) c.4478G>T (p.Arg1493Met) c.4406G>T (p.Arg1469Met) c.1172G>T (p.Arg391Met) c.1034G>T (p.Arg345Met) c.3596G>T (p.Arg1199Met) c.4361G>T (p.Arg1454Met) c.4550G>T (p.Arg1517Met) c.4343G>T (p.Arg1448Met) c.1046G>T (p.Arg349Met) c.1091G>T (p.Arg364Met) c.4547G>T (p.Arg1516Met) c.871G>T c.1058G>T (p.Arg353Met) c.*4267G>T (n.*4267G>T) c.797G>T (p.Arg266Met) c.800G>T c.5-12537G>T (n.5-12537G>T) c.-43-1967G>T (n.-43-1967G>T) c.-98-26298G>T (n.-98-26298G>T) n.375G>T n.4620G>T n.4661G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43076488C>G | CA10584554 | BRCA1 | c.4481G>C (p.Arg1494Thr) c.4484G>C (p.Arg1495Thr) c.4358G>C (p.Arg1453Thr) c.4478G>C (p.Arg1493Thr) c.4406G>C (p.Arg1469Thr) c.1172G>C (p.Arg391Thr) c.1034G>C (p.Arg345Thr) c.3596G>C (p.Arg1199Thr) c.4361G>C (p.Arg1454Thr) c.4550G>C (p.Arg1517Thr) c.4343G>C (p.Arg1448Thr) c.1046G>C (p.Arg349Thr) c.1091G>C (p.Arg364Thr) c.4547G>C (p.Arg1516Thr) c.871G>C c.1058G>C (p.Arg353Thr) c.*4267G>C (n.*4267G>C) c.797G>C (p.Arg266Thr) c.800G>C c.5-12537G>C (n.5-12537G>C) c.-43-1967G>C (n.-43-1967G>C) c.-98-26298G>C (n.-98-26298G>C) n.375G>C n.4620G>C n.4661G>C | ClinVar dbSNP |
| 17 | g.43076488C= | CA2260775444 | BRCA1 | c.4481G= (p.Arg1494=) c.4484G= (p.Arg1495=) c.4358G= (p.Arg1453=) c.4478G= (p.Arg1493=) c.4406G= (p.Arg1469=) c.1172G= (p.Arg391=) c.1034G= (p.Arg345=) c.3596G= (p.Arg1199=) c.4361G= (p.Arg1454=) c.4550G= (p.Arg1517=) c.4343G= (p.Arg1448=) c.1046G= (p.Arg349=) c.1091G= (p.Arg364=) c.4547G= (p.Arg1516=) c.871G= c.1058G= (p.Arg353=) c.*4267G= (n.*4267G=) c.797G= (p.Arg266=) c.800G= c.5-12537G= (n.5-12537G=) c.-43-1967G= (n.-43-1967G=) c.-98-26298G= (n.-98-26298G=) n.375G= n.4620G= n.4661G= | dbSNP |