Table E1.
Variants identified by WES in the proband which are absent from the gnomAD and 1000 genomes databases. The mutation in REL is bolded.
| Gene | Chr:Pos | Ref/Alt | Zygosity | Alteration(s) |
|---|---|---|---|---|
| TTLL10 | 1:1120348 | G/A | Heterozygous | NM_001130045.1:c.1261-1G>A |
| PRDM16 | 1:3347585 | C/T | Heterozygous | NM_022114.3:c.3434C>T |
| MST1L | 1:17085015 | C/T | Heterozygous | NM_001271733.1:c.1460G>A |
| IPO13 | 1:44433161 | A/T | Heterozygous | NM_014652.3:c.2788A>T |
| BRDT | 1:92457845 | C/T | Heterozygous | NM_001242806.2:c.2101C>T |
| OR10J1 | 1:159409676 | T/C | Heterozygous | NM_012351.2:c.128T>C |
| IGSF8 | 1:160061714 | A/G | Heterozygous | NM_052868.5:c.1741T>C |
| PLEKHA6 | 1:204192629 | C/A | Heterozygous | NM_014935.4:c.3116G>T |
| MARK1 | 1:220809217 | C/G | Heterozygous | NM_001286124.1:c.1319C>G |
| OBSCN | 1:228525005 | C/T | Heterozygous | NM_001271223.2:c.19592C>T |
| HEATR1 | 1:236721531 | G/C | Heterozygous | NM_018072.5:c.5204+6C>G |
| REL | 2:61144153 | G/A | Homozygous | NM_002908.3:c.535+1G>A |
| ANKRD36C | 2:96616506 | G/C | Heterozygous | NM_001310154.1:c.1286C>G |
| ANKRD36C | 2:96616507 | C/A | Heterozygous | NM_001310154.1:c.1285G>T |
| SSFA2 | 2:182756857 | C/T | Heterozygous | NM_001130445.2:c.64C>T |
| GIGYF2 | 2:233712226 | CACAGCAGCAGCAGCAGCAGC/- | Heterozygous | NM_001103147.1:c.3693_3713del |
| COL6A5 | 3:130110144 | G/C | Heterozygous | NM_001278298.1:c.2539G>C |
| NMD3 | 3:160939747 | TTTTTTTTTTTTTTTTT/- | Heterozygous | NM_001320227.1:c.-20-22_-20-6del |
| CYTL1 | 4:5018591 | T/C | Heterozygous | NM_018659.2:c.299A>G |
| SORCS2 | 4:7436509 | C/T | Heterozygous | NM_020777.2:c.548+38427C>T |
| CEP135 | 4:56835228 | G/C | Heterozygous | NM_025009.4:c.1045-1G>C |
| THEGL | 4:57467169 | C/A | Heterozygous | NM_001256475.1:c.1177C>A |
| CEP44 | 4:175223340 | A/G | Heterozygous | NM_001145314.1:c.237+3A>G |
| CNPY3 | 6:42902265 | G/T | Heterozygous | NM_001318842.1:c.204G>T |
| IMPG1 | 6:76744476 | A/T | Heterozygous | NM_001563.3:c.330T>A |
| MDN1 | 6:90494802 | G/C | Heterozygous | NM_014611.2:c.1378C>G |
| TIAM2 | 6:155450909 | C/A | Homozygous | NM_012454.3:c.552C>A |
| GET4 | 7:916358 | G/A | Heterozygous | NM_015949.2:c.76G>A |
| DNAH11 | 7:21599405 | G/T | Heterozygous | NM_001277115.1:c.877G>T |
| SEMA3A | 7:83590893 | T/C | Heterozygous | NM_006080.2:c.2110A>G |
| RP1L1 | 8:10480232 | C/A | Heterozygous | NM_178857.5:c.480G>T |
| SH2D4A | 8:19251032 | G/A | Heterozygous | NM_022071.3:c.1252G>A |
| LYN | 8:56866432 | A/G | Heterozygous | NM_002350.3:c.679A>G |
| ZNF517 | 8:146033370 | G/A | Heterozygous | NM_213605.2:c.1069G>A |
| RIC1 | 9:5763776 | T/C | Heterozygous | NM_020829.3:c.2749T>C |
| OR1L1 | 9:125424679 | C/A | Heterozygous | NM_001005236.3:c.685C>A |
| SLC16A12 | 10:91198403 | T/A | Heterozygous | NM_213606.3:c.986A>T |
| CPEB3 | 10:94000082 | T/C | Heterozygous | NM_014912.4:c.26A>G |
| TACC2 | 10:123848028 | C/T | Homozygous | NM_206862.3:c.5495C>T |
| MUC6 | 11:1016613 | G/C | Heterozygous | NM_005961.2:c.6188C>G |
| OR52J3 | 11:5068002 | A/G | Heterozygous | NM_001001916.2:c.247A>G |
| OR56A3 | 11:5969049 | T/A | Heterozygous | NM_001003443.2:c.473T>A |
| ARNTL | 11:13393880 | GGG/- | Heterozygous | NM_001297719.1:c.992_994delGGG |
| LMO2 | 11:33886347 | C/T | Heterozygous | NM_005574.3:c.265G>A |
| LRRC4C | 11:40136226 | C/G | Heterozygous | NM_020929.2:c.1617G>C |
| CCDC85B | 11:65658456 | C/T | Heterozygous | NM_006848.2:c.202C>T |
| SHANK2 | 11:70332235 | G/A | Heterozygous | NM_133266.4:c.2399C>T |
| APLP2 | 11:129940533 | C/G | Heterozygous | NM_001642.2:c.105+556C>G |
| VWF | 12:6167043 | G/C | Heterozygous | NM_000552.4:c.1701C>G |
| ATN1 | 12:7050180 | C/T | Heterozygous | NM_001007026.1:c.3352C>T |
| PIK3C2G | 12:18762523 | A/T | Heterozygous | NM_001288772.1:c.4142A>T |
| CELA1 | 12:51740388 | CTGGACCATATCC/- | Heterozygous | NM_001971.5:c.16+7_16+19delGGATATGGTCCAG |
| CELA1 | 12:51740403 | TT/- | Heterozygous | NM_001971.5:c.16+3_16+4delAA |
| G2E3 | 14:31061589 | C/T | Heterozygous | NM_017769.4:c.298C>T |
| GPATCH2L | 14:76633107 | G/A | Heterozygous | NM_017926.3:c.727+37G>A |
| SLC24A4 | 14:92790151 | G/C | Heterozygous | NM_153647.3:c.-23-1G>C |
| WARS | 14:100820895 | T/G | Heterozygous | NM_004184.3:c.431A>C |
| PKM | 15:72492836 | C/T | Heterozygous | NM_001206796.2:c.1690G>A |
| CD276 | 15:74005281 | G/A | Heterozygous | NM_001024736.1:c.1589G>A |
| BCL2A1 | 15:80253513 | T/C | Heterozygous | NM_004049.3:c.424A>G |
| CEMIP | 15:81224250 | A/C | Heterozygous | NM_018689.2:c.2663A>C |
| NME4 | 16:448386 | G/T | Heterozygous | NM_005009.2:c.92-604G>T |
| PARN | 16:14704541 | -/T | Heterozygous | NM_002582.3:c.514dupA |
| GTF3C1 | 16:27476729 | G/C | Heterozygous | NM_001520.3:c.5207C>G |
| CNGB1 | 16:57945772 | T/C | Heterozygous | NM_001297.4:c.2377A>G |
| MRM3 | 17:685929 | T/C | Heterozygous | NM_018146.3:c.311T>C |
| ZBTB4 | 17:7385592 | C/T | Heterozygous | NM_020899.3:c.-81+1731G>A |
| ATAD5 | 17:29196590 | A/G | Heterozygous | NM_024857.4:c.3533A>G |
| MYO1D | 17:30986172 | A/C | Heterozygous | NM_015194.2:c.2306T>G |
| SOCS7 | 17:36523760 | G/A | Heterozygous | NM_014598.3:c.1192-5G>A |
| KRTAP4-8 | 17:39254133 | G/T | Heterozygous | NM_031960.2:c.204C>A |
| MRPS23 | 17:55926758 | C/T | Heterozygous | NM_016070.3:c.58G>A |
| TNFAIP8L1 | 19:4651887 | C/A | Heterozygous | NM_152362.2:c.6C>A |
| SH2D3A | 19:6753521 | G/A | Heterozygous | NM_005490.2:c.1516C>T |
| ZNF492 | 19:22817275 | CG/- | Heterozygous | NM_020855.2:c.-95_-94delCG |
| FCGBP | 19:40364256 | G/C | Heterozygous | NM_003890.2:c.14386C>G |
| LILRB2 | 19:54783690 | G/T | Heterozygous | NM_005874.4:c.311C>A |
| CHODL | 21:19618290 | G/A | Heterozygous | NM_024944.2:c.79+671G>A |
| IL17RA | 22:17566097 | G/A | Heterozygous | NM_014339.6:c.116G>A |
| CELSR1 | 22:46768834 | C/G | Heterozygous | NM_014246.1:c.7705G>C |