Table 3. Putative damaging exonic variants found in the five linkage regions.
| Chr. | Position | Ref | Alt | dbSNP 138 | Gene | GERP | 1000G freq. | EVS freq. |
| chr2 | 3392295 | A | G | rs11686212 | TTC15 | 5.07 | 0.33 | 0.39 |
| chr2 | 1168781 | C | A | rs28505970 | SNTG2 | 4.58 | 0.15 | 0.2 |
| chr4 | 1018891 | G | T | rs4647931 | FGFRL1 | 3.54 | 0.0058 | 0.019 |
| chr4 | 3137674 | G | A | rs363075 | HTT | 4.84 | 0.052 | 0.045 |
| chr4 | 3446079 | G | T | rs41264743 | HGFAC | 2.89 | 0.0118 | 0.0099 |
| chr4 | 5731074 | C | T | rs16837598 | EVC | 4.92 | 0 | 0.063 |
| chr4 | 2210065 | C | A | rs2353552 | POLN | −0.11 | 0.14 | 0.093 |
| chr4 | 967191 | G | A | rs17855876 | DGKQ | 1.96 | 0.18 | . |
| chr4 | 265547 | A | G | rs150738695 | ZNF732 | 0.977 | 0.0235 | 0.011 |
| chr4 | 1087487 | G | A | rs60035268 | RNF212 | 1.03 | 0.11 | . |
| chr7 | 100365613 | G | T | rs10953303 | ZAN | 3.84 | 0.26 | 0.198 |
| chr7 | 100377373 | G | A | rs482308 | ZAN | 4.08 | 0.36 | 0.286 |
| chr7 | 99995536 | G | C | rs201649203 | PILRA | 3.36 | . | 0.00038 |
| chr7 | 107569962 | A | G | rs35915664 | LAMB1 | 5.42 | 0.0176 | 0.01469 |
| chr7 | 92763720 | G | A | rs151304501 | SAMD9L | 4.59 | 0.0176 | 0.01622 |
| chr7 | 107600211 | G | C | rs80095409 | LAMB1 | 5.31 | 0.01176 | 0.01069 |
| chr7 | 92825188 | C | T | rs145244580 | HEPACAM2 | 4.89 | 0 | 0.00299 |
| chr7 | 94917894 | G | A | rs149869201 | PPP1R9A | 5.61 | 0 | 0.001 |
| chr7 | 120911438 | G | A | rs138155176 | C7orf58 | 5.93 | 0.00588 | 0.00169 |
| chr7 | 104747899 | G | T | rs117986340 | MLL5 | 6.03 | 0.0529 | 0.033 |
| chr7 | 92733766 | C | A | rs10279499 | SAMD9 | 3.37 | 0.0705 | 0.112 |
| chr7 | 100389590 | C | T | rs76325149 | ZAN | 2.23 | 0.0764 | 0.051 |
| chr7 | 87020979 | C | G | rs111402688 | CROT | 5.62 | . | . |
| chr7 | 100382373 | C | T | Novel | ZAN | −0.271 | . | . |
| chr7 | 99817585 | G | T | rs7786505 | PVRIG | −3.09 | 0.24 | 0.223 |
| chr7 | 106509331 | C | A | rs17847825 | PIK3CG | 5.51 | 0.12 | 0.079 |
| chr7 | 100486464 | T | G | rs141166290 | UFSP1 | 3.25 | 0 | 0.00123 |
| chr7 | 100371473 | C | T | rs314299 | ZAN | 2.64 | . | . |
| chr7 | 100374087 | A | G | rs314300 | ZAN | 4.82 | 0.53 | 0.42 |
| chr7 | 89938680 | C | T | rs1134956 | C7orf63 | 5.51 | 0.53 | 0.50 |
| chr16 | 12009304 | C | A | rs11544193 | GSPT1 | 4.57 | 0.52 | 0.45 |
| chr16 | 23634293 | C | T | rs45551636 | PALB2 | 5.84 | 0.0176 | 0.0178 |
| chr16 | 20693663 | C | G | rs61740631 | ACSM1 | 3.96 | 0.02345 | 0.0161 |
| chr16 | 14029033 | G | A | rs1800067 | ERCC4 | 5.77 | 0.064 | 0.055 |
| chr16 | 11214529 | G | A | rs200931583 | CLEC16A | 5.58 | . | . |
| chr16 | 20352618 | C | A | rs55772253 | UMOD | ? | 0.0176 | 0.0173 |
| chr16 | 21245101 | G | C | rs143428829 | ANKS4B | 5.22 | 0.0058 | 0.0052 |
| chr16 | 20477021 | G | A | rs146045291 | ACSM2A | 1.48 | 0.018 | 0.0065 |
| chr16 | 22142958 | C | T | rs369110616 | VWA3A | 4.24 | . | 0.00016 |
| chr16 | 19548116 | G | A | rs7190666 | CP110 | 4.02 | 0.13 | 0.16 |
| chr16 | 21051209 | G | C | rs330150 | DNAH3 | 2.27 | 0.11 | 0.13 |
| chr16 | 19127347 | C | T | rs11074362 | ITPRIPL2 | 3.41 | 0.029 | 0.0596 |
| chr16 | 14346333 | C | T | rs370175066 | MKL2 | 5.84 | . | 7.70E-05 |
| chr16 | 23079501 | G | A | rs35254998 | USP31 | 5.8 | 0.076 | 0.05 |
| chr18 | 10759858 | T | C | Novel | FAM38B | 5 | . | . |
| chr18 | 12277150 | G | A | rs115278913 | CIDEA | 3.99 | 0.00588 | 0.0031 |
| chr18 | 21424991 | C | A | rs17202961 | LAMA3 | 5.46 | 0.0706 | 0.048 |
Functional impact of variants was predicted by a consensus of Polyphen2 and SIFT. Rare variants (<5% allele frequency) are shown in bold.