Table 3 of Iqbal, Mol Vis 2020; 26:334-344.
Exon/ Intron | DNA Change | Protein Change | Type | Population | Reference |
---|---|---|---|---|---|
Ex6 | c.449T>C | p.I150T | Missense | KSA | 34 |
Ex8 | c.808C>T and IVS12; c.3587+1G>T | p.Q270X/ splice variant | Compound heterozygous | China | 53 |
Ex8 | c.1045C>T | p.Q349X | Nonsense | Pakistan | 17 |
Ex8 | c.l056_1071delGGCCACACGGGACTCA | p.E352DfsX9 | Frameshift | Iran | 56 |
Ex8 | c.1546C>T | p.Q516X | Nonsense | Israel | 17 |
Ex8 | c.1621C>T | p.Q541X | Nonsense | Russia | 55 |
Ex8 | c.2206C>T | p.Q736X | Nonsense | Pakistan | 17 |
Ex8 | c.2206C>T | p.Q736X | Nonsense | Egypt | 50 |
Ex8 | c.2206C>T | p.Q736X | Nonsense | Pakistan | 18 |
Ex8 | c.2345delA | p.Q782RfsX32 | Frameshift | Pakistan | 18 |
Ex8 | c.2345delA/ c.2714_2715delCA | p.Q782RfsX32/ p.T905SfsX2 | Compound heterozygous | KSA/ UAE | 54 |
Ex8 | c.2506delG | p.A836PfsX80 | Frameshift | KSA | 51 |
Ex8 | c.2761C>T | p.R921X | Nonsense | Pakistan | 17 |
Ex8 | c.2830C>T | p.R944X | Nonsense | Pakistan | 17 |
IVS9 | c.3150+1G>T | Splice variant | Splice variant | Pakistan | 17 |
IVS9 | c.3151–2A>C | p.A1051DfsX27 | Frameshift | Pakistan | 18 |
Ex10 | c.3196delC | p.H1066IfsX10 | Frameshift | Pakistan | This Study |
Ex13 | c.3670C>T | p.R1224X | Nonsense | UK | 52 |
Ex13 | c.3755delC | p.A1252DfsX71 | Frameshift | Pakistan | 17 |
Ex14 | c.3858_3862dupGGAAT | p.L1288WfsX37 | Frameshift | Pakistan | 17 |
IVS14 | c.3945–1G>C | Splice variant | Splice variant | UK | 52 |
Ex16 | c.4127T>C | p.L1376P | Missense | Pakistan | 17 |
Ex16 | c.4127T>C | p.L1376P | Missense | Pakistan | This Study |
Ex17 | c.4270C>T | p.R1424X | Nonsense | Pakistan | This Study |