| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063347T>C | CA10591186 | BRCA1 | c.5176A>G (p.Lys1726Glu) c.5179A>G (p.Lys1727Glu) c.5053A>G (p.Lys1685Glu) c.5173A>G (p.Lys1725Glu) c.5101A>G (p.Lys1701Glu) c.1867A>G (p.Lys623Glu) c.1729A>G (p.Lys577Glu) c.4291A>G (p.Lys1431Glu) c.5056A>G (p.Lys1686Glu) c.5245A>G (p.Lys1749Glu) c.5038A>G (p.Lys1680Glu) c.1741A>G (p.Lys581Glu) c.5242A>G (p.Lys1748Glu) c.1566A>G c.1753A>G (p.Lys585Glu) c.*4962A>G (n.*4962A>G) c.1492A>G (p.Lys498Glu) c.109A>G (p.Lys37Glu) c.652A>G (p.Lys218Glu) c.-98-13157A>G (n.-98-13157A>G) n.5315A>G n.5356A>G | ClinVar dbSNP |
| 17 | g.43063347T>A | CA003327 | BRCA1 | c.5176A>T (p.Lys1726Ter) c.5179A>T (p.Lys1727Ter) c.5053A>T (p.Lys1685Ter) c.5173A>T (p.Lys1725Ter) c.5101A>T (p.Lys1701Ter) c.1867A>T (p.Lys623Ter) c.1729A>T (p.Lys577Ter) c.4291A>T (p.Lys1431Ter) c.5056A>T (p.Lys1686Ter) c.5245A>T (p.Lys1749Ter) c.5038A>T (p.Lys1680Ter) c.1741A>T (p.Lys581Ter) c.5242A>T (p.Lys1748Ter) c.1566A>T c.1753A>T (p.Lys585Ter) c.*4962A>T (n.*4962A>T) c.1492A>T (p.Lys498Ter) c.109A>T (p.Lys37Ter) c.652A>T (p.Lys218Ter) c.-98-13157A>T (n.-98-13157A>T) n.5315A>T n.5356A>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43063347T>G | CA10591187 | BRCA1 | c.5176A>C (p.Lys1726Gln) c.5179A>C (p.Lys1727Gln) c.5053A>C (p.Lys1685Gln) c.5173A>C (p.Lys1725Gln) c.5101A>C (p.Lys1701Gln) c.1867A>C (p.Lys623Gln) c.1729A>C (p.Lys577Gln) c.4291A>C (p.Lys1431Gln) c.5056A>C (p.Lys1686Gln) c.5245A>C (p.Lys1749Gln) c.5038A>C (p.Lys1680Gln) c.1741A>C (p.Lys581Gln) c.5242A>C (p.Lys1748Gln) c.1566A>C c.1753A>C (p.Lys585Gln) c.*4962A>C (n.*4962A>C) c.1492A>C (p.Lys498Gln) c.109A>C (p.Lys37Gln) c.652A>C (p.Lys218Gln) c.-98-13157A>C (n.-98-13157A>C) n.5315A>C n.5356A>C | ClinVar dbSNP |
| 17 | g.43063347T= | CA2260769199 | BRCA1 | c.5176A= (p.Lys1726=) c.5179A= (p.Lys1727=) c.5053A= (p.Lys1685=) c.5173A= (p.Lys1725=) c.5101A= (p.Lys1701=) c.1867A= (p.Lys623=) c.1729A= (p.Lys577=) c.4291A= (p.Lys1431=) c.5056A= (p.Lys1686=) c.5245A= (p.Lys1749=) c.5038A= (p.Lys1680=) c.1741A= (p.Lys581=) c.5242A= (p.Lys1748=) c.1566A= c.1753A= (p.Lys585=) c.*4962A= (n.*4962A=) c.1492A= (p.Lys498=) c.109A= (p.Lys37=) c.652A= (p.Lys218=) c.-98-13157A= (n.-98-13157A=) n.5315A= n.5356A= | dbSNP |