| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43094086_43094089del | CA000965 | BRCA1 | n.1508_1511del c.1444_1447del (p.Ile482Ter) c.1318_1321del (p.Ile440Ter) c.1441_1444del (p.Ile481Ter) c.1366_1369del (p.Ile456Ter) c.784+657_784+660del (n.784+657_784+660del) c.646+657_646+660del (n.646+657_646+660del) c.556_559del (p.Ile186Ter) c.1321_1324del (p.Ile441Ter) c.1303_1306del (p.Ile435Ter) c.664+657_664+660del (n.664+657_664+660del) c.706+657_706+660del (n.706+657_706+660del) c.*1452_*1455del (n.*1452_*1455del) c.670+1759_670+1762del (n.670+1759_670+1762del) c.795_798del c.*1227_*1230del (n.*1227_*1230del) c.787+657_787+660del (n.787+657_787+660del) c.409+657_409+660del (n.409+657_409+660del) c.412+657_412+660del (n.412+657_412+660del) c.5-30136_5-30133del (n.5-30136_5-30133del) c.-43-19566_-43-19563del (n.-43-19566_-43-19563del) c.-99+31184_-99+31187del (n.-99+31184_-99+31187del) n.1580_1583del n.1621_1624del | ClinVar dbSNP |
| 17 | g.43094086_43094089dup | CA915950135 | BRCA1 | n.1508_1511dup c.1444_1447dup (p.Ile483AsnfsTer8) c.1318_1321dup (p.Ile441AsnfsTer8) c.1441_1444dup (p.Ile482AsnfsTer8) c.1366_1369dup (p.Ile457AsnfsTer8) c.784+657_784+660dup (n.784+657_784+660dup) c.646+657_646+660dup (n.646+657_646+660dup) c.556_559dup (p.Ile187AsnfsTer8) c.1321_1324dup (p.Ile442AsnfsTer8) c.1303_1306dup (p.Ile436AsnfsTer8) c.664+657_664+660dup (n.664+657_664+660dup) c.706+657_706+660dup (n.706+657_706+660dup) c.*1452_*1455dup (n.*1452_*1455dup) c.670+1759_670+1762dup (n.670+1759_670+1762dup) c.795_798dup c.*1227_*1230dup (n.*1227_*1230dup) c.787+657_787+660dup (n.787+657_787+660dup) c.409+657_409+660dup (n.409+657_409+660dup) c.412+657_412+660dup (n.412+657_412+660dup) c.5-30136_5-30133dup (n.5-30136_5-30133dup) c.-43-19566_-43-19563dup (n.-43-19566_-43-19563dup) c.-99+31184_-99+31187dup (n.-99+31184_-99+31187dup) n.1580_1583dup n.1621_1624dup | ClinVar dbSNP |