Table 1 SNVs showing potential knockout configurations in 16 genes that have two or more LOF mutations in the heterozygous state in the same individual
From: Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans
Gene | Position | COLa | ZUSa | SOTa | XHSa | Type |
|---|---|---|---|---|---|---|
LILRA3 | 19_54803664 | 1 | 0 | 0 | 0 | Stopgain |
19_54803979 | 1 | 0 | 0 | 0 | Splicing | |
SLC17A9 | 20_61588315 | 1 | 0 | 0 | 0 | Splicing |
20_61588316 | 1 | 0 | 0 | 0 | Splicing | |
UGT2A3 | 4_69817185 | 0 | 0 | 1 | 0 | Frameshift_deletion |
4_69796262 | 0 | 0 | 1 | 0 | Splicing | |
AC006486.1 | 19_42747163 | 1 | 0 | 0 | 0 | Frameshift_deletion |
19_42747179 | 1 | 0 | 0 | 0 | Frameshift_deletion | |
PLSCR2 | 3_146179745 | 0 | 0 | 0 | 1 | Splicing |
3_146177635 | 0 | 0 | 0 | 1 | Frameshift_deletion | |
ETNPPL | 4_109681449 | 0 | 1 | 0 | 0 | Frameshift_deletion |
4_109681452 | 0 | 1 | 0 | 0 | Stopgain | |
ZNF816 | 19_53454007 | 0 | 0 | 0 | 1 | Frameshift_deletion |
19_53454370 | 0 | 0 | 0 | 1 | Stopgain | |
AC026740.1 | 5_668574 | 2 | 0 | 0 | 0 | Frameshift_insertion |
5_668654 | 2 | 0 | 0 | 0 | Frameshift_deletion | |
AC078925.1 | 12_131514221 | 0 | 0 | 0 | 1 | Frameshift_deletion |
12_131514761 | 0 | 0 | 1 | 1 | Frameshift_insertion | |
AC078925.1 | 12_131514265 | 0 | 0 | 0 | 1 | Frameshift_insertion |
12_131514264 | 0 | 0 | 1 | 0 | Frameshift_deletion | |
IGSF22 | 11_18728743 | 0 | 0 | 0 | 1 | Frameshift_deletion |
11_18727647 | 0 | 0 | 0 | 1 | Frameshift_deletion | |
FNDC3A | 13_49775314 | 0 | 0 | 0 | 1 | Frameshift_deletion |
13_49775366 | 0 | 0 | 0 | 1 | Splicing | |
AGAP6 | 10_51748681 | 1 | 0 | 1 | 0 | Frameshift_deletion |
10_51768674 | 1 | 0 | 0 | 1 | Frameshift_deletion | |
10_51748528 | 0 | 0 | 0 | 1 | Frameshift_insertion | |
SORBS3 | 8_22432388 | 1 | 0 | 0 | 1 | Frameshift_deletion |
8_22432396 | 1 | 0 | 0 | 1 | Stopgain | |
LRRC9 | 14_60448779 | 1 | 0 | 0 | 0 | Splicing |
14_60474859 | 1 | 0 | 0 | 0 | Stopgain | |
CDHR3 | 7_105668924 | 0 | 0 | 1 | 0 | Splicing |
7_105641910 | 0 | 0 | 1 | 0 | Stopgain | |
AC008686.1 | 19_13899040 | 0 | 0 | 0 | 1 | Frameshift_deletion |
19_13899019 | 0 | 0 | 0 | 1 | Splicing |
