Table 2 Allele frequencies for the variants in the East Asia population
Allele | ExAc Allele Frequency | GnomAD V3 Allele Frequency | GnomAD V2.1 Allele Frequency | |||
|---|---|---|---|---|---|---|
IVS1-16C > A | 0.0001172 | 1/8532 | Not found | Not found | 0.0001634 | 3/18356 |
c.305C > T/p.(A102V) | 0 | 0/8622 | 0 | 0/3130 | 0 | 0/19944 |
c.395G > A/p.(R132H) | 0 | 0/8638 | 0 | 0/3134 | 0 | 0/19944 |
c.736C > T/p. (P246S) | 0.0005845 | 5/8554 | 0.0003193 | 1/3132 | 0.0004015 | 8/19926 |
c.886(−10_-31)del | Not found | Not found | Not found | Not found | 0.0001111 | 2/18002 |
c.1152-63del | 0 | 0/8170 | 0 | 0/3134 | 0 | 0/19432 |
c.1222G > T/p.(D408Y) | Not found | Not found | Not found | Not found | Not found | Not found |
c.1496G > A/p.(R499H) | 0 | 0/8596 | Not found | Not found | 0 | 0/18370 |
c.1540 C > T/p.(P514S) | 0.001508 | 13/8620 | 0.001276 | 4/3134 | 0.001254 | 25/19936 |