Table 2
Truncating variants
Variant type | Exon | cDNA nucleotide | gDNA nucleotide | Variant | Stop codon | Variant detection | | Reference* |
---|
cDNA level | Protein level |
---|
Frameshift | 5 | 353 | 7635 | c.353delG | p.S118fs | 152 | 1/150 | | 1, 2 |
| 11 | 711 | 18048 | c.711_714delAATG | p.M238fs | 244 | 1/150 | | 1, 5 |
| 20 | 1854 | 33424 | c.1854delA | p.G619fs | 621 | 1/150 | Novel | 1 |
| 22 | 2180 | 37316 | c.2180dupA | p.N727fs | 798 | 1/150 | Novel | 1 |
| 24 | 2520 | 41496 | c.2520_2526del7 | p.Y841fs | 871 | 1/150 | Novel | 1 |
| 30 | 3528 | 59384 | c.3528dupC | p.S1177fs | 1189 | 1/200 | Novel | 1 |
| 32 | 3761 | 61523 | c.3761_3762delCCinsG | p.A1254fs | 1302 | 10/150 (9) | | 1, 2, 3, 4, 5, 6 |
| 32 | 4415 | 62177 | c.4415_4418del4ins | p.C1472fs | 1507 | 1/150 | Novel | 1 |
| | | | TATTCCCCTCT | | | | | |
| 34 | 5582 | 70144 | c.5582delT | p.F1861fs | 1973 | 1/150 | Novel | 1 |
| 36 | 5895 | 127730 | c.5895dupA | p.L1966fs | 1969 | 6/150 (6) | | 1, 2, 3, 4, 5, 6, 7 |
| 40 | 6383 | 175707 | c.6383delT | p.L2128fs | 2128 | 1/150 | | 1, 6 |
| 41 | 6653 | 178301 | c.6653_6660dup | p.T2221fs | 2229 | 1/150 | Novel | 1 |
| 52 | 8114 | 251150 | c.8114delG | p.G2705fs | 2715 | 1/150 | Novel | 1 |
| 58 | 8829 | 334291 | c.8829dupC | p.I2944fs | 2949 | 1/150 | | 1, 4, 5 |
| 59 | 9689 | 339686 | c.9689delA | p.D3230fs | 3263 | 11/150 (8) | | 1,2, 6 |
| 65 | 10637 | 428124 | c.10637delT | p.V3546fs | 3567 | 1/150 | | 1, 7 |
Nonsense | 5 | 370 | 7652 | c.370 C→T | p.R124X | 124 | 1/150 | Novel | 1 |
| 15 | 1212 | 27623 | c.1212 G→A | p.W404X | 404 | 1/150 | Novel | 1 |
| 19 | 1774 | 31923 | c.1774 C→T | p.R592X | 592 | 1/150 | Novel | 1 |
| 23 | 2341 | 39014 | c.2341 C→T | p.R781X | 781 | 2/150 | Novel | 1 |
| 32 | 3848 | 61610 | c.3848 C→A | p.S1283X | 1283 | 1/150 | Novel | 1 |
| 69 | 11524 | 454907 | c.11524 C→T | p.R3842X | 3842 | 1/150 | Novel | 1 |
In-frame | 15 | 1159 | 27570 | c.1159_1161delAAT | p.N387del | 4073 | 1/150 | | 1, 4 |
deletion | | | | | | | | | |