HOM |
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GENE | CHR | POS | SNP ID | IMPACT | AA | ID | MAF | READS | CADD score |
BLNK | 10 | 97964346 | rs184808145 | STOP_GAINED | R282* | ENST00000224337 | <0.01 | 684 | 38 |
HET |
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GENE | CHR | POS | SNP ID | IMPACT | AA | ID | MAF | READS | CADD score |
IL12B | 5 | 158749490 | rs139186048 | MISSENSE | E132K | ENST00000231228 | <0.01 | 426 | 26.3 |
DOCK8 | 9 | 418066 | . | SPLICE_SITE_ACCEPTOR | NA | ENST00000453981 | NA | 155 | 18.77 |
CFI | 4 | 110682814 | . | MISSENSE | D173N | ENST00000394635 | <0.01 | 645 | 0.001 |
PSTPIP1 | 15 | 77310863 | rs201872851 | MISSENSE | T68M | ENST00000558012 | <0.01 | 450 | 25 |
VPS13B | 8 | 100844858 | rs149842139 | MISSENSE | R3223W | ENST00000358544 | <0.01 | 559 | 25.4 |
NCF4 | 22 | 37267701 | rs150103256 | MISSENSE | V160M | ENST00000397147 | <0.01 | 204 | 4.579 |
DNAAF1 | 16 | 84208329 | rs139519641 | SPLICE_SITE_DONOR | NA | ENST00000378553 | <0.01 | 528 | 11.68 |
C5 | 9 | 123785738 | rs34552775 | MISSENSE | L354M | ENST00000223642 | <0.01 | 404 | 25 |
NCF1 | 7 | 74197326 | . | MISSENSE | N166D | ENST00000289473 | <0.01 | 673 | 0.003 |