| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43071116dup | CA003027 | BRCA1 | c.4796dup (p.Leu1599PhefsTer22) c.4799dup (p.Leu1600PhefsTer22) c.4673dup (p.Leu1558PhefsTer22) c.4793dup (p.Leu1598PhefsTer22) c.4721dup (p.Leu1574PhefsTer22) c.1487dup (p.Leu496PhefsTer22) c.1349dup (p.Leu450PhefsTer22) c.3911dup (p.Leu1304PhefsTer22) c.4676dup (p.Leu1559PhefsTer22) c.4865dup (p.Leu1622PhefsTer22) c.4658dup (p.Leu1553PhefsTer22) c.1361dup (p.Leu454PhefsTer22) c.1406dup (p.Leu469PhefsTer22) c.4862dup (p.Leu1621PhefsTer22) c.1186dup c.1373dup (p.Leu458PhefsTer22) c.*4582dup (n.*4582dup) c.1112dup (p.Leu371PhefsTer22) c.5-7164dup (n.5-7164dup) c.272dup (p.Leu91PhefsTer22) c.-98-20925dup (n.-98-20925dup) n.4935dup n.4976dup | ClinVar dbSNP |
| 17 | g.43071116del | CA2499224396 | BRCA1 | c.4796del (p.Leu1599Ter) c.4799del (p.Leu1600Ter) c.4673del (p.Leu1558Ter) c.4793del (p.Leu1598Ter) c.4721del (p.Leu1574Ter) c.1487del (p.Leu496Ter) c.1349del (p.Leu450Ter) c.3911del (p.Leu1304Ter) c.4676del (p.Leu1559Ter) c.4865del (p.Leu1622Ter) c.4658del (p.Leu1553Ter) c.1361del (p.Leu454Ter) c.1406del (p.Leu469Ter) c.4862del (p.Leu1621Ter) c.1186del c.1373del (p.Leu458Ter) c.*4582del (n.*4582del) c.1112del (p.Leu371Ter) c.5-7164del (n.5-7164del) c.272del (p.Leu91Ter) c.-98-20925del (n.-98-20925del) n.4935del n.4976del | ClinVar dbSNP |