| Mutation (NM_013254.3) | Predicted protein change | Mutation alias | |
|---|---|---|---|
| Exon 2 | c.4C>T | p.Q2X | Q2X |
| Exon 2 | c.86delA | p.K29RfsX15 | K29fs |
| Exon 3 | c.176dupT | p.L59FfsX16 | L59fs |
| Intron 3 | c.228+1G>A | p.K30_E76del | K30_E76del |
| Exon 4 | c.236_238delCAA | p.T79del | T79del |
| Exon 4 | c.253_255delATT | p.I85del | I85del |
| Exon 4 | c.288delT | p.V97FfsX2 | V97fs |
| Exon 4 | c.339_342del | p.I114FfsX9 | I114fs |
| Exon 4 | c.349C>T | p.R117X | R117X |
| Intron 4 | c.358+2T>C | p.T77WfsX4 | T77fs |
| Exon 5 | c.379C>T | p.R127X | R127X |
| Exon 5 | c.467_468delCA | p.T156RfsX6 | T156fs |
| Exon 5 | c.499_501delGAT | p.D167del | D167del |
| Intron 5 | c.540+1G>A | p.V120AfsX3 | V120fs |
| Exon 6 | c.555T>A | p.Y185X | Y185X |
| Exon 6 | c.583C>T | p.Q195X | Q195X |
| Exon 6 | c.621dupT | p.G208WfsX15 | G208fs |
| Exon 6 | c.684dupT | p.R229X | R229X |
| Exon 7 | c.762_763delTG | p.N254KfsX4 | N254fs |
| Exon 7 | c.790_791insACAG | p.P264HfsX24 | P264fs |
| Exon 8 | c.830delT | p.T278PfsX33 | T278fs |
| Exon 8 | c.834_841delCCCCTGTT | p.P279CfsX5 | P279fs |
| Exon 8 | c.958delA | p.T320QfsX40 | T320fs |
| Intron 8 | c.992+1G>A | p.G272_T331del | G272_T331del (G>A) |
| Intron 8 | c.992+1G>T | p.G272_T331del | G272_T331del (G>T) |
| Exon 9 | c.1069C>T | p.R357X | R357X |
| Exon 10 | c.1192delT | p.S398PfsX11 | S398fs |
| Exon 10 | c.1199delC | p.P400LfsX9 | P400fs |
| Exon 11 | c.1267_1268delTG | p.C423LfsX25 | C423fs |
| Exon 11 | c.1318C>T | p.R440X | R440X |
| Exon 11 | c.1330C>T | p.R444X | R444X |
| Exon 11 | c.1335G>A | p.W445X | W445X |
| Exon 11 | c.1340+1G>A | p.A417X | A417X |
| Exon 12 | c.1349_1352delTTAA | p.I450KfsX15 | I450fs |
| Exon 12 | c.1385_1388CAGA | p.T462KfsX3 | T462fs |
| Exon 12 | c.1387_1388delGA | p.E463SfsX13 | E463fs |
| Exon 12 | c.1414delA | p.I472SfsX8 | I472fs |
| Exon 12 | c.1432delA | p.T478LfsX2 | T478fs |
| Exon 12 | c.1436_1437delTG | p.V479EfsX4 | V479fs |
| Exon 13 | c.1445_1446delAT | p.Y482X | Y482X (1445_1446del) |
| Exon 13 | c.1446T>G | p.Y482X | Y482X (1446T>G) |
| Exon 13 | c.1496C>G | p.S499X | S499X |
| Exon 13 | c.1501_1502insAA | p.I501KfsX7 | I501fs |
| Exon 14 | c.1551_1552insTT | p.S518LfsX32 | S518fs |
| Intron 14 | c.1644-1G>A | p.N548KfsX5 | N548fs |
| Exon 15 | c.1653_1654insA | p.L552TfsX23 | L552fs |
| Intron 15 | c.1760+1G>C | p.R574SfsX11 | R574fs |
| Exon 17 | c.1838T>A | p.L613X | L613X |
| Exon 17 | c.1852G>T | p.E618X | E618X |
| Exon 17 | c.1852_1854delGAA | p.E618del | E618del |
| Exon 18 | c.1869_1875delGCTTCAT | p.M623IfsX9 | M623fs |
| Exon 18 | c.1887_1890delGTTA | p.Q629HfsX4 | Q629fs |
| Exon 18 | c.1928_1930delAAG | p.E643del | E643del |
| Intron 18 | c.1959+1_1959+2dupGT | IVS18+1_+2dup | |
| Intron 18 | c.1960-2A>G | p.L654VfsX18 | L654fs |
| Exon 19 | c.1963C>T | p.Q655X | Q655X |
| Exon 19 | c.2040dupT | p.N681X | N681X |
| Exon 19 | c.2048T>G | p.L683X | L683X |
| Exon 19 | c.2063_2064delTT | p.L688RfsX14 | L688fs |
| Exon 20 | c.2070delG | p.M690IfsX4 | M690fs |
| Exon 20 | c.2099_2100delTG | p.V700GfsX2 | V700fs |
| Exon 20 | c.2107G>T | p.E703X | E703X |
| Exon 20 | c.2115_2127delCTGAAAATAACCA | p.E706FfsX2 | E706fs |
| Intron 20 | c.2138+2T>C | p.M690_R713del | M690_R713del |
