Table 2.
List of annotated variants remaining after exclusion of common and likely benign variants
| Gene | Position (GRCh37) | Variant | 1000 G | ESP6500 | ExAc | dbSNP | SIFT | PolyPhen-2 | Mutation tatser | |
|---|---|---|---|---|---|---|---|---|---|---|
| X linked | NHS | X:17746172 | NM_198270.2:c.3883C>T, p.(Gln1295*) | 0 | 0 | 0 | ||||
| ARHGEF6 | X:135772797 | NM_004840.2:c.1157T>C, p.(Leu386Pro) | 0 | 0 | 0 | D | D | D | ||
| MECP2 | X:153296195 | NM_001110792.1:c.1120C>T, p.(Pro374Ser) | 0 | 0 | 0 | rs782171742 | T | P | D | |
| de novo variants | ANKRD36 | 2:97815097 | NM_001164315.1:c.1100A>C, p.(Glu367Ala) | 0 | 0 | 0.0001047 | T | P | N | |
| ASXL3 | 18:31325883 | NM_030632.1:c.6071dup, p.(Pro2025Serfs*23) | 0 | 0 | 0 | |||||
| C6orf62 | 6:24706441 | NM_030939.4:c.614A>C, p.(Tyr205Ser) | 0 | 0 | 0.004259 | D | D | D | ||
| CPPED1 | 16:12897608 | NM_018340.2:c.26T>G, p.(Val9Gly) | 0 | 0 | 0.001415 | D | B | D | ||
| EPPK1 | 8:143872047 | NM_031308.3:c.1207G>A, p.(Gly403Arg) | 0 | 0 | 0 | T | NA | NA | ||
| HNF1B | 17:36070591 | NM_000458.2:c.1126A>C, p.(Thr376Pro) | 0 | 0 | 0.001994 | D | P | D | ||
| HSF1 | 8:145534886 | NM_005526.2:c.515T>G, p.(Val172Gly) | 0 | 0 | 0.00479 | D | D | D | ||
| KLHL35 | 11:75134810 | NM_001039548.2:c.1488_1489insG, p.(Leu497Alafs*9) | 0 | 0 | 0 | |||||
| PLXND1 | 3:129279198 | NM_015103.2:c.5108A>C, p.(Tyr1703Ser) | 0 | 0 | 0 | D | D | D | ||
| SAC3D1 | 11:64809334 | NM_013299.3:c.570C>A, p.(Asn190Lys) | 0 | 0 | 0 | D | D | D | ||
| SLC43A3 | 11:57191491 | NM_014096.3:c.325A>C, p.(Thr109Pro) | 0 | 0 | 0 | T | D | N | ||
| SLC9A3 | 5:482185 | NM_004174.3:c.1444C>G, p.(Arg482Gly) | 0 | 0 | 0.0005383 | T | P | NA | ||
| SRCAP | 16:30727735 | NM_006662.2:c.2752A>C, p.(Thr918Pro) | 0 | 0 | 0.001082 | D | NA | N | ||
| SYNC | 1:33161113 | NM_001161708.1:c.586C>T, p.(Leu196Phe) | 0 | 0.000657 | 0.0004119 | rs199700360 | D | P | D | |
| ZNF750 | 17:80789615 | NM_024702.2:c.716T>C, p.(Ile239Thr) | 0 | 0 | 0.00004948 | D | D | D | ||
| ZNF750 | 17:80789624 | NM_024702.2:c.707A>C, p.(His236Pro) | 0 | 0 | 0.00006622 | T | P | N | ||
| Comp. Het. | ABCA13 | 7:48411787 | NM_152701.4:c.10826A>C, p.(His3609Pro) | 0.01 | 0.005002 | 0.008532 | rs78147863 | D | D | NA |
| ABCA13 | 7:48412073 | NM_152701.4:c.11112T>G, p.(Ser3704Arg) | 8.359E−06 | rs75281621 | D | D | NA | |||
| FAT1 | 4:187532810 | NM_005245.3:c.9583T>A, p.(Tyr3195Asn) | 0.0014 | 0.000834 | 0.0007401 | rs146471129 | D | D | D | |
| FAT1 | 4:187539783 | NM_005245.3:c.7957G>A, p.(Gly2653Ser) | 0.000335 | 0.0005389 | rs200149452 | D | D | D |
The frequency in public databases and the pathogenicity prediction by SIFT, PolyPhen-2, and mutation taster are given