Table 5.
Mutation | Language Group | State of Mutation | Present in No. of families from Pakistan | Reference |
---|---|---|---|---|
349C-T | Northern Pakistani | homozygous | One | [22] |
719delCT | Northern Pakistani | homozygous | One | [74] |
1258delTCTCAAT | Northern Pakistani | homozygous | Two | [22,74] |
9190C-T | Northern Pakistani | homozygous | One | [22] |
2936+5G-T (intronic) | Northern Pakistani | homozygous | One | [74] |
1990C-T | Northern Pakistani | homozygous | One | [74] |
8508delGA | Sindi, Northern Pakistani | homozygous | Four | [16,17,19,74] |
3082G-A | Northern Pakistani | homozygous | One | [74] |
4581delA | Northern Pakistani | homozygous | One | [74] |
4795C-T | Northern Pakistani | homozygous | One | [74] |
7895C-T | Northern Pakistani | homozygous | One | [74] |
9159delA | Northern Pakistani | homozygous | Three | [22,74,105] |
9557C-G | Hindko | homozygous | Three | [11,74] |
9984+1G-T (intronic) | Northern Pakistani | homozygous | One | [74] |
3663delG | Northern Pakistani | homozygous | Two | [74] |
1002delA | Pakistani | homozygous | One | [16] |
2938C-T | Pakistani | homozygous | One | [16] |
3055C-T | Pakistani | homozygous | One | [16] |
7894C-T | Pakistani/heterozygous | Homozygous | Two | [16] |
3477delCGCTA | Pakistani | Homozygous | One | [16] |
6732delA | Pakistani | Homozygous | One | [16] |
8668C-T | Pakistani | Homozygous | One | [16] |
3978G-A | Pashto.... | Heterozygous/homozygous | Eighteen | [11,16,17,105] |
9319C-T | Pakistani | heterozygous | One | [16] |
9492T-G | Pakistani | homozygous | Three | [16,105] |
9595A-T | Pakistani | homozygous | One | [16] |
9677insG | Pakistani | homozygous | One | [16] |
9697C-T | Pakistani | homozygous | One | [16] |
1260delTCAAGTC | Saraiki | homozygous | Two | [11,105] |
3188T-G | Pakistani | homozygous | One | [19] |
4855delTA | Pakistani | homozygous | One | [19] |
5136C-A | Sindhi | homozygous | One | [17] |
5149delA | Saraiki | homozygous | One | [17] |
6335delAT | Pakistani | homozygous | One | [24] |
7761T-G | Pakistani | homozygous | Two | [19,22] |
7782delGA | Pakistani | homozygous | One | [19] |
8378delT | Pakistani | homozygous | More than one | [19] |
9118insCATT | Punjabi | homozygous | One | [11] |
9238A-T | Punjabi | homozygous | Two | [11,19] |
9681delA | Pakistani | homozygous | One | [19] |
9730C-T | Kashmiri | homozygous | One | [17] |
9745delCT | Pakistani | homozygous | One | [19] |
9789T-A | Pakistani | homozygous | One | [19] |
10059C-A | Saraiki | homozygous | One | [17] |
9539A-C | Sindi | homozygous | One | [11] |
2101C-T | Pakistani | homozygous | One | [105] |
6686delGAAA | Pakistani | homozygous | Two | [8,105] |
77delG | Pakistani | homozygous | Two | [8,105] |