Table 2.
Inheritance of Candidate Variants
| Gene | Coordinates (hg19) | Protein Impact | Allele Frequency | ID41P | ID41M | ID41F | ID41K4 | ID41K5 | ID41K6 | ID41K7 | ID41K8 | ID41K9 | ID41K10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DYNC2LI1 | chr2:44023025 snp G>A | c.*360-1G>A | 0.19% | 01 | 01 | 00 | 01 | 01 | 00 | 01 | 00 | 01 | 01 |
| FOXN2 | chr2:48602076 snp C>T | p.L264F | <0.001% | 01 | 01 | 00 | 01 | 01 | 00 | 01 | 00 | 01 | 01 |
| FAT4 | chr4:126370186 snp A>T | p.D2672V | 0.20% | 01 | 01 | 00 | 01 | 01 | 00 | 00 | 01 | 01 | 01 |
| RDH16 | chr12:57348805 snp T>C | p.R153G | 0.006% | 01 | 01 | 00 | 01 | 01 | 01 | 01 | 01 | 01 | 01 |
| KRT74 | chr12:52962172 snp C>A | p.R379L | 0.047% | 01 | 01 | 00 | 01 | 01 | 01 | 01 | 01 | 01 | 01 |
| WIF1 | chr12:65514927 snp C>T | p.W15X | <0.001% | 01 | 01 | 00 | 01 | 01 | 01 | 01 | 01 | 01 | 01 |
| DACT1 | chr14:59113231 snp G>T | p.K630N | 0.31% | 01 | 01 | 00 | 01 | 01 | 01 | 01 | 00 | 00 | 01 |
| EIF2AK4 | chr15:40268999 ins->GACGAC | p.D736_D737dup | 0.005% | 01 | 01 | 00 | 01 | 01 | 01 | 01 | 01 | 01 | 00 |
| PAK6 | chr15:40558610 snp C>G | p.R258G | 0.054% | 01 | 01 | 00 | 01 | 01 | 01 | 01 | 00 | 01 | 00 |
| VPS18 | chr15:41191521 snp A>G | p.I169V | 0.08% | 01 | 01 | 00 | 01 | 01 | 01 | 01 | 00 | 01 | 00 |
| ATP6V0A1 | chr17:40652829 snp C>T | p.T602M | 0.058% | 01 | 01 | 00 | 01 | 01 | 00 | 00 | 00 | 01 | 01 |
| SLC4A1 | chr17:42331864 snp G>A | p.T686M | 0.014% | 01 | 01 | 00 | 01 | 01 | 00 | 00 | 00 | 01 | 01 |
Genotypes: 0 – reference allele, 1 – alternate allele. Variants observed in all affected family members are bolded.