Table 1. List of homozygous variants identified by Whole Exome Sequencing.
| Chr | Position | Gene | cDNA variant | Protein variant |
|---|---|---|---|---|
| 1 | 33,476,435 | AK2 | c.*45–1G > T | |
| 1 | 36,752,343 | THRAP3 | c.512C > T | p.Ser171Phe |
| 1 | 36,932,102 | CSF3R | c.2273C > T | p.Thr758Ile |
| 1 | 39,758,439 | MACF1 | c.1931G > T | p.Gly644Val |
| 1 | 145,365,316 | NBPF10 | c.9941G > A | p.Gly3314Glu |
| 2 | 11,758,842 | GREB1 | c.3841G > A | p.Ala1281Thr |
| 2 | 29,404,617 | CLIP4 | c.1976G > A | p.Arg659Gln |
| 2 | 64,779,195 | AFTPH | c.587G > A | p.Gly196Glu |
| 2 | 238,277,211 | COL6A3 | c.4895G > A | p.Arg1632Gln |
| 2 | 241,987,827 | SNED1 | c.1369G > A | p.Glu457Lys |
| 3 | 38,348,802 | SLC22A14 | c.574G > A | p.Ala192Thr |
| 3 | 44,672,687 | ZNF197 | c.524C > T | p.Ala175Val |
| 3 | 47,452,772 | PTPN23 | c.3484C > T | p.Arg1162Trp |
| 3 | 52,556,184 | STAB1 | c.6403C > G | p.Pro2135Ala |
| 3 | 67,426,232 | SUCLG2 | c.1235T > C | p.Ile412Thr |
| 3 | 197,422,844 | KIAA0226 | c.1366C > T | p.Arg456Trp |
| 4 | 9,174,981 | FAM90A26P | c.83T > G | p.Val28Gly |
| 4 | 9,175,603 | FAM90A26P | c.211C > G | p.Pro71Ala |
| 4 | 10,089,539 | WDR1 | c.743A > G | p.His248Arg |
| 4 | 15,529,151 | CC2D2A | c.1231T > G | p.Ser411Ala |
| 5 | 74,021,852 | GFM2 | c.1820_1825delTTGAGT | p.Glu608_Phe609del |
| 5 | 78,610,479 | JMY | c.2464C > A | p.Pro822Thr |
| 5 | 149,602,589 | CAMK2A | c.1429C > T | p.His477Tyr |
| 5 | 154,199,950 | C5orf4 | c.928G > A | p.Glu310Lys |
| 5 | 156,456,715 | HAVCR1 | c.1090G > A | p.Ala364Thr |
| 5 | 156,479,452 | HAVCR1 | c.590_592delCAA | p.Thr198del |
| 6 | 26,509,392 | BTN1A1 | c.1571G > A | p.Gly524Glu |
| 6 | 27,215,709 | PRSS16 | c.119G > A | p.Ser40Asn |
| 6 | 32,806,007 | TAP2 | c.4C > T | p.Arg2Trp |
| 6 | 33,260,924 | RGL2 | c.1876G > A | p.Gly626Arg |
| 6 | 38,704,952 | DNAH8 | c.221C > A | p.Ala74Asp |
| 6 | 43,412,643 | ABCC10 | c.2807C > T | p.Pro936Leu |
| 6 | 129,932,746 | ARHGAP18 | c.1054C > T | p.Arg352Ter |
| 6 | 131,946,054 | MED23 | c.235C > T | p.Leu79Phe |
| 6 | 151,674,121 | AKAP12 | c.4595_4596insGGC | p.Asp1532delinsGluAla |
| 6 | 168,479,677 | FRMD1 | c.98A > C | p.Glu33Ala |
| 7 | 5,352,665 | TNRC18 | c.7851_7856dupCTCCTC | p.Ser2618_Ser2619dup |
| 7 | 45,123,857 | NACAD | c.1922T > C | p.Val641Ala |
| 7 | 143,884,437 | ARHGEF35 | c.1040C > T | p.Thr347Ile |
| 7 | 149,422,981 | KRBA1 | c.1304C > T | p.Ala435Val |
| 7 | 151,680,130 | GALNTL5 | c.428A > G | p.Tyr143Cys |
| 8 | 12,285,064 | FAM86B1|FAM86B2 | c.310T > C | p.Ser104Pro |
| 8 | 12,285,250 | FAM86B2 | c.808C > T | p.Arg270Trp |
| 8 | 86,574,132 | REXO1L1 | c.1595A > C | p.Asp532Ala |
| 9 | 12,775,863 | LURAP1L | c.149_150insTGGCGG | p.Gly49_Gly50dup |
| 9 | 40,706,047 | FAM75A3 | c.3704A > G | p.His1235Arg |
| 9 | 41,323,425 | FAM75A4 | c.1908C > T | p.Arg637Trp |
| 9 | 41,323,469 | FAM75A4 | c.1864G > A | p.Gly622Asp |
| 9 | 43,822,668 | CNTNAP3B | c.1222C > T | p.Leu408Phe |
| 10 | 51,748,684 | AGAP6 | c.209G > A | p.Arg70Gln |
| 10 | 81,471,741 | FAM22B | c.2137T > C | p.Trp713Arg |
| 11 | 1,651,198 | KRTAP5-5 | c.129_137delAGGCTGTGG | p.Gly44_Gly46del |
| 11 | 12,316,388 | MICALCL | c.1408_1410dupCCT | p.Pro470dup |
| 12 | 7,045,917 | ATN1 | c.1488_1508delGCAGCAGCAGCAGCAGCAGCA | p.Gln496_Gln502del |
| 12 | 7,045,920 | ATN1 | c.1491_1508delGCAGCAGCAGCAGCAGCA | p.Gln497_Gln502del |
| 13 | 99,461,564 | DOCK9 | c.1271_1272insA | p.Leu425LeufsTer? |
| 13 | 114,503,875 | FAM70B | c.500_509 + 72delCCTGCGGGAGG TGAGGGGCACCGGGGACCCCCATATC TACACCTGCGGGAGGTGAGGGGC GCTGGGGACCCCCGTATCTACA |
|
| 14 | 105,411,514 | AHNAK2 | c.10274C > T | p.Ala3425Val |
| 14 | 106,994,118 | IGHV3-48 | c.47G > A | p.Gly16Asp |
| 16 | 29,496,359 | c.916T > C | p.Ser306Pro | |
| 16 | 30,772,988 | C16orf93 | c.82G > A | p.Ala28Thr |
| 16 | 70,215,817 | CLEC18C | c.521C > T | p.Ala174Val |
| 17 | 39,211,189 | KRTAP2-2 | c.275G > C | p.Cys92Ser |
| 19 | 1,026,716 | CNN2 | c.56A > C | p.Lys19Thr |
| 19 | 10,084,460 | COL5A3 | c.3584T > C | p.Val1195Ala |
| 19 | 14,517,213 | CD97 | c.1892G > A | p.Ser631Asn |
| 21 | 36,042,462 | CLIC6 | c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA | p.Val260_Ser269del |
| 22 | 18,834,773 | c.329C > T | p.Thr110Ile | |
| X | 48,920,059 | CCDC120 | c.110A > G | p.Asp37Gly |
| X | 55,116,478 | PAGE2 | c.25T > A | p.Ser9Thr |
| X | 150,832,702 | PASD1 | c.954_971delCCCAATGGACCAGCAGGA | p.Pro319_Asp324del |
| X | 153,050,158 | SRPK3 | c.1_5delGACAG | p.Thr2LeufsTer57 |
| X | 154,010,046 | MPP1 | c.978A > C | p.Glu326Asp |