Table 1. Potential founding mutations in protein-coding regions.
Gene | Consequence | Frequency 1 | dbSNP ID |
---|---|---|---|
KITs | nonsynonymous SNV | 14/53 | rs121913517 |
PCDHB11s | nonsynonymous SNV | 12/32 | |
RNF146s | frameshift del | 24/52 | |
OPLAH | nonsynonymous SNV | 10/29 | rs200933200 |
TESK1s | nonsynonymous SNV | 11/28 | |
MYRFs | nonsynonymous SNV | 10/32 | |
SLC39A9 | nonsynonymous SNV | 24/37 | |
RRN3P1p | noncoding variant | 8/37 | |
ZNF407s | nonsynonymous SNV | 17/53 | rs368982407 |
LAMA5s | nonsynonymous SNV | 10/34 | |
DOPEY2s | nonsynonymous SNV | 20/59 | |
STSs | nonsynonymous SNV | 21/25 | rs373509256 |
MAGEB16p | nonsynonymous SNV | 24/28 |
1, Fraction of sequenced reads showing the mutation; p, pseudogene; s, confirmed by Sanger sequencing.