| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23624057_23624058dup | CA915941070 | PALB2 | c.2793_2794dup (p.Asn932IlefsTer6) c.*268_*269dup (n.*268_*269dup) c.2787_2788dup (p.Asn930IlefsTer6) c.2631_2632dup (p.Asn878IlefsTer6) c.1902_1903dup (p.Asn635IlefsTer6) n.4134_4135dup c.1740_1741dup (p.Asn581IlefsTer6) n.3307_3308dup n.2079_2080dup n.1482_1483dup c.321_322dup (p.Asn108IlefsTer6) n.3583_3584dup | ClinVar dbSNP |
| 16 | g.23624057_23624058del | CA294559 | PALB2 | c.2793_2794del (p.Tyr931Ter) c.*268_*269del (n.*268_*269del) c.2787_2788del (p.Tyr929Ter) c.2631_2632del (p.Tyr877Ter) c.1902_1903del (p.Tyr634Ter) n.4134_4135del c.1740_1741del (p.Tyr580Ter) n.3307_3308del n.2079_2080del n.1482_1483del c.321_322del (p.Tyr107Ter) n.3583_3584del | ClinVar dbSNP |