BRCA2 exon | DNA level BIC traditional nomenclature | DNA level Systematic nomencl. | Protein level | No. of families |
---|---|---|---|---|
3 | c.534dupA | c.306dupA | p.Leu103IlefsX10 | 1 |
5 | c.690_691delAA | c.462_463del2 | p.Asp156X | 1 |
9 | c.983_986del4 | c.755_758del4 | p.Asp252ValfsX24 | 1 |
10 | c.1617_1618delAG | c.1389_1390del2 | p.Val464GlyfsX3 | 2 |
10 | c.2024_2028del5 | c.1796_1800del5 | p.Phe559X | 1 |
10 | c.2041dupA (2041–2042insA) | c.1813dupA | p.Ile605AsnfsX11 | 2 |
11A | c.3036_3039del4 | c.2808_2811del4 | p.Ala938ProfsX21 | 5 |
11A | c.3304A>T | c.3076A>T | p.Lys1026X | 1 |
11A | c.3337C>T | c.3109C>T | p.Gln1037X | 1 |
11B | c.3972_3975del4 | c.3744_3747del4 | p.Ser1248ArgfsX10 | 1 |
11B | c.4075_4076delGT | c.3847_3848del2 | p.Val1283LysfsX2 | 2 |
11C | c.5073_5074delCT | c.4845_4846del2 | p.Leu1616LysfsX2 | 1 |
11C | c.5270_5271delGT | c.5042_c.5043del2 | p.Val1681GlufsX7 | 1 |
11D | c.5441_5444del4 | c.5213_5216del4 | p.Thr1738IlefsX2 | 1 |
11D | c.5869_5872del4 | c.5641_5644del4 | p.Lys1881GlnfsX27 | 1 |
11D | c.5873C>A | c.5645C>A | p.Ser1882X | 4 |
11D | c.5950_5951delCT | c.5722_5723del2 | p.Leu1908ArgfsX2 | 1 |
11D | c.5991dupT | c.5763dupT | p.Ala1922CysfsX2 | 1 |
11D | c.6017delT | c.5789delT | p.Leu1930TyrfsX33 | 1 |
11E | c.6633_6637del5 | c.6405_6409del5 | p.Asn2135LysfsX3 | 1 |
11E | c.6677_6678delAA | c.6449_6450del2 | p.Lys2150SerfsX25 | 3 |
11E | c.6696_6697delTC | c.6468_6469del2 | p.Gln2157IlefsX18 | 1 |
11E | c.6866delC | c.6638delC | p.Ser2213X | 2 |
11E | c.6982dupT (6982–6983insT) | c.6754dupT | p.Ser2252PhefsX9 | 1 |
14 | c.7379_7380delAA | c.7151_7152del2 | p.Gln2384ArgfsX7 | 1 |
15 | c.7699C>T | c.7471C>T | p.Gln2491X | 1 |
17 | c.8141_8145del5 (8138_8142del5) | c.7913_7917del5 | p.Phe2638fsX | 15 |
18 | c.8270_8271delCA | c.8042_8043del2 | p.Thr2681CysfsX11 | 3 |
18 | c.8397_8400dup4 (8400_8401ins4) | c.8169_8172dup4 | p.Trp2725MetfsX3 | 1 |
19 | c.8591G>A | c.8363G>A | p.Trp2788X | 1 |
20 | c.8765_8766delAG | c.8537_8538del2 | p.Glu2846GlyfsX22 | 14 |
23 | c.9325dupA | c.9097dupA | p.Thr3033AsnfsX11 | 1 |
25 | c.9631delC | c.9403delC | p.Leu3135PhefsX28 | 4 |
25 | c.9663_9664delGT | c.9435_9436del2 | p.Ser3147CysfsX2 | 1 |
25 | c.9691_9695del5ins8 | c.9463_9467del5ins8 | p.Phe3155GlufsX9 | 1 |