Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43094144del | CA000926 | BRCA1 | n.1454del c.1390del (p.Thr464ProfsTer11) c.1264del (p.Thr422ProfsTer11) c.1387del (p.Thr463ProfsTer11) c.1312del (p.Thr438ProfsTer11) c.784+603del (n.784+603del) c.646+603del (n.646+603del) c.502del (p.Thr168ProfsTer11) c.1267del (p.Thr423ProfsTer11) c.1249del (p.Thr417ProfsTer11) c.664+603del (n.664+603del) c.706+603del (n.706+603del) c.*1398del (n.*1398del) c.670+1705del (n.670+1705del) c.741del c.*1173del (n.*1173del) c.787+603del (n.787+603del) c.409+603del (n.409+603del) c.412+603del (n.412+603del) c.*1326del (n.*1326del) c.1390del (p.Thr464ProfsTer?) c.502del (p.Thr168ProfsTer?) c.5-30190del (n.5-30190del) c.-43-19620del (n.-43-19620del) c.-99+31130del (n.-99+31130del) n.1526del n.1567del | ClinVar dbSNP |
17 | g.43094144dup | CA10589940 | BRCA1 | n.1454dup c.1390dup (p.Thr464AsnfsTer16) c.1264dup (p.Thr422AsnfsTer16) c.1387dup (p.Thr463AsnfsTer16) c.1312dup (p.Thr438AsnfsTer16) c.784+603dup (n.784+603dup) c.646+603dup (n.646+603dup) c.502dup (p.Thr168AsnfsTer16) c.1267dup (p.Thr423AsnfsTer16) c.1249dup (p.Thr417AsnfsTer16) c.664+603dup (n.664+603dup) c.706+603dup (n.706+603dup) c.*1398dup (n.*1398dup) c.670+1705dup (n.670+1705dup) c.741dup c.*1173dup (n.*1173dup) c.787+603dup (n.787+603dup) c.409+603dup (n.409+603dup) c.412+603dup (n.412+603dup) c.*1326dup (n.*1326dup) c.1390dup (p.Thr464AsnfsTer?) c.502dup (p.Thr168AsnfsTer?) c.5-30190dup (n.5-30190dup) c.-43-19620dup (n.-43-19620dup) c.-99+31130dup (n.-99+31130dup) n.1526dup n.1567dup | ClinVar dbSNP |
17 | g.43094141_43094144delinsCTTTC | CA000925 | BRCA1 | n.1451_1454delinsGAAAG c.1387_1390delinsGAAAG (p.Lys463GlufsTer17) c.1261_1264delinsGAAAG (p.Lys421GlufsTer17) c.1384_1387delinsGAAAG (p.Lys462GlufsTer17) c.1309_1312delinsGAAAG (p.Lys437GlufsTer17) c.784+600_784+603delinsGAAAG (n.784+600_784+603delinsGAAAG) c.646+600_646+603delinsGAAAG (n.646+600_646+603delinsGAAAG) c.499_502delinsGAAAG (p.Lys167GlufsTer17) c.1264_1267delinsGAAAG (p.Lys422GlufsTer17) c.1246_1249delinsGAAAG (p.Lys416GlufsTer17) c.664+600_664+603delinsGAAAG (n.664+600_664+603delinsGAAAG) c.706+600_706+603delinsGAAAG (n.706+600_706+603delinsGAAAG) c.*1395_*1398delinsGAAAG (n.*1395_*1398delinsGAAAG) c.670+1702_670+1705delinsGAAAG (n.670+1702_670+1705delinsGAAAG) c.738_741delinsGAAAG c.*1170_*1173delinsGAAAG (n.*1170_*1173delinsGAAAG) c.787+600_787+603delinsGAAAG (n.787+600_787+603delinsGAAAG) c.409+600_409+603delinsGAAAG (n.409+600_409+603delinsGAAAG) c.412+600_412+603delinsGAAAG (n.412+600_412+603delinsGAAAG) c.*1323_*1326delinsGAAAG (n.*1323_*1326delinsGAAAG) c.1387_1390delinsGAAAG (p.Lys463GlufsTer?) c.499_502delinsGAAAG (p.Lys167GlufsTer?) c.5-30193_5-30190delinsGAAAG (n.5-30193_5-30190delinsGAAAG) c.-43-19623_-43-19620delinsGAAAG (n.-43-19623_-43-19620delinsGAAAG) c.-99+31127_-99+31130delinsGAAAG (n.-99+31127_-99+31130delinsGAAAG) n.1523_1526delinsGAAAG n.1564_1567delinsGAAAG | ClinVar dbSNP |