TABLE 1.
De novo mutations (DNM)
| Trio | DNM | Gene | Position | Transcript | Reference | Variant | Protein change | PolyPhen | ExAC MAF |
|---|---|---|---|---|---|---|---|---|---|
| NL2 | 1 | PACS1 | 11:66002865 | NM_018026.3 | G | A | p.R733Q | Possibly damaging | 0.000406 |
| NL3 | 1 | PTPN1 | 20:49195087 | NM_002827.3 | A | G | p.H208R | Benign | 0 |
| NL4 | 1 | ZNF618 | 9:116811441 | NM_133374.2 | G | A | p.R527Q | Probably damaging | 0.000017 |
| NL6 | 1 | SNRNP200 | 2:96955598 | NM_014014.4 | G | A | p.A960V | Probably damaging | 0.000033 |
| NL8 | 1 | PIK3C2B | 1:204415166 | NM_002646.3 | C | T | p.A866T | Probably damaging | 0 |
| NL11 | 2 | MAP3K6 | 1:27688646 | NM_004672.3 | C | T | p.A451T | Benign | 0.000008 |
| ZNF292 | 6:87970762 | NM_015021.1 | A | C | p.E2472A | Benign | 0 | ||
| NL12 | 1 | COG5 | 7:107013177 | NM_006348.3 | A | C | p.Q264P | Probably damaging | 0 |
| NL13 | 1 | MKI67 | 10:129901675 | NM_002417.4 | T | A | p.E2472A | Benign | 0 |
| NL14 | 1 | FBXL13 | 7:102553612 | NM_145032.3 | G | C | p.T310R | Probably damaging | 0 |
| NL15 | 2 | PXDNL | 8:52321174 | NM_144651.4 | T | C | p.I1004V | Benign | 0 |
| TLE2 | 19:3002420 | NM_001144761.1 | G | A | p.R674C | Probably damaging | 0.000076 | ||
| NL19 | 2 | LRIG2 | 1:113616050 | NM_014813.1 | G | A | p.V8L | Probably damaging | 0.000041 |
| OR2T11 | 1:248789610 | NM_001001964.1 | A | T | p.F274L | Possibly damaging | 0 | ||
| NL20 | 1 | SREBF1 | 17:17723001 | NM_004176.4 | G | C | p.L188V | Possibly damaging | 0 |
| G1 | 1 | PLD1 | 3:171392324 | NM_002662.4 | A | G | p.Y732C | Probably damaging | 0 |
| G2 | 1 | SYT15 | 10:46963852 | NM_181519.2 | A | G | p.M371V | Benign | 0.001571 |
| G3 | 2 | DOPEY2 | 21:37618674 | NM_005128.2 | C | A | p.P1466T | Benign | 0 |
| AHNAK2 | 14:105416174 | NM_138420.2 | T | A | p.C1872S | Benign | 0.008125 | ||
| G4 | 1 | HYAL4 | 7:123508339 | NM_012269.2 | A | C | p.L4F | Possibly damaging | 0 |
| G6 | 1 | SRP72 | 4:57368013 | NM_006947.3 | A | G | p.K668E | Probably damaging | 0 |
| G8 | 1 | ZNF793 | 19:38028548 | NM_001013659.2 | C | T | p.R330X | NA | 0 |
| G9 | 1 | C6orf89 | 6:36887382 | NM_152734.3 | T | C | p.I292T | Benign | 0.000231 |
| G13 | 1 | PRKD3 | 2:37501677 | NM_005813.3 | C | G | p.T513S | Benign | 0 |
| G14 | 1 | RTEL1 | 20:62324513 | NM_016434.3 | C | T | p.R957W | Probably damaging | 0.00005 |
| G16 | 2 | CAB39 | 2:231682556 | NM_016289.3 | A | G | p.N261D | Possibly damaging | 0 |
| ABL2 | 1:179086640 | NM_005158.4 | C | T | p.A397V | Probably damaging | 0 | ||
| G17 | 1 | TMEM131 | 2:98378517 | NM_015348.1 | G | C | p.V1624L | Benign | 0.000009 |
| G18 | 1 | OR1N1 | 9:125289536 | NM_012363.1 | C | T | p.R13G | Benign | 0.000018 |
| S2 | 1 | TECTA | 11:121016433 | NM_005422.2 | A | G | p.Y1238C | Benign | 0.000016 |
| S4 | 4 | OAS3 | 12:113379385 | NM_006187.2 | C | T | p.S63L | Benign | 0.000083 |
| BAHCC1 | 17:79409915 | NM_001080519.2 | G | A | p.G514R | Benign | 0.000026 | ||
| ZNF24 | 18:32917633 | NM_006965.2 | C | G | p.P224A | Benign | 0 | ||
| FBXW8 | 12:117383291 | NM_012174.1 | A | C | p.Q116H | Probably damaging | 0 | ||
| IT1 | 2 | NPTXR | 22:39222573 | NM_014293.3 | G | A | p.G344R | Possibly damaging | 0.000030 |
| RBM33 | 7:155530234 | NM_053043.2 | A | C | p.E195A | Possibly damaging | 0 | ||
| IT2 | 1 | C10orf90 | 10:128192697 | NM_001004298.2 | G | A | p.G455S | Probably damaging | 0.000015 |
| IT3 | 2 | ADAM33 | 20:3651693 | NM_025220.2 | G | A | p.R734X | NA | 0.000563 |
| PTCRA | 6:42893368 | NM_138296.2 | G | T | p.G265V | Probably damaging | 0 | ||
| IT4 | 2 | LTV1 | 6:144181653 | NM_032860.3 | G | A | p.E296K | Possibly damaging | 0 |
| SARDH | 9:136535790 | NM_007101.3 | G | A | p.P804L | Benign | 0.000034 | ||
| IT5 | 3 | ASCC3 | 6:100988080 | NM_006828.2 | G | T | p.D1912Y | Probably damaging | 0 |
| C8B | 1:57422504 | NM_000066.3 | G | T | p.C110F | Probably damaging | 0 | ||
| NEK10 | 3:27173451 | NM_001031741.3 | A | G | p.R370X | NA | 0 | ||
| IT6 | 1 | TRPM4 | 19:49671909 | NM_017636.3 | G | A | p.G123S | Probably damaging | 0 |
| IT7 | 2 | SLC6A17 | 1:110714820 | NM_001010898.2 | T | C | p.I142T | Probably damaging | 0 |
| VPS11 | 11:118949581 | NM_021729.4 | G | A | p.E714K | Benign | 0 | ||
| IT8 | 1 | CACNA1B | 9:141014708 | NM_000718.3 | G | T | p.R2042L | Probably damaging | 0 |
| IT9 | 1 | COL15A1 | 9:101748312 | NM_001855.4 | G | T | p.R189L | Probably damaging | 0 |
| IT10 | 1 | MFSD12 | 19:3557319 | NM_021731.2 | C | T | p.G28D | Probablydamaging | 0 |
| IT11 | 1 | ZFP64 | 20:50704964 | NM_199427.2 | A | C | p.S399R | Probably damaging | 0 |
| IT12 | 1 | MRGPRG | 11:3239743 | NM_001164377.1 | G | C | p.V101L | Benign | 0 |
| IT13 | 2 | ARHGEF18 | 19:7533837 | NM_001130955.1 | G | A | p.A1015T | Benign | 0.000053 |
| TJP3 | 19:3730576 | NM_001267560.1 | G | A | p.R162H | Possibly damaging | 0.000083 | ||
| IT14 | 1 | RRP1B | 21:45095000 | NM_015056.2 | A | G | p.I169V | Benign | 0 |
| IT15 | 4 | CLCN2 | 3:184075179 | NM_001171087.2 | G | A | p.R290Q | Probably damaging | 0 |
| LTBP4 | 19:41131902 | NM_001042544.1 | G | A | p.A1392T | Probably damaging | 0 | ||
| PDCD1 | 2:242794902 | NM_005018.2 | G | A | p.G103R | Benign | 0.000030 | ||
| SLC9A5 | 16:67289730 | NM_004594.2 | C | T | p.R270C | Probably damaging | 0 | ||
| IT16 | 2 | EPHA2 | 1:16464557 | NM_004431.3 | A | G | p.Q368R | Benign | 0 |
| PCK1 | 20:56140150 | NM_002591.3 | C | T | p.A458V | Probably damaging | 0.00003 | ||
| IT17 | 1 | PKD1 | 16:2158656 | NM_000296.3 | C | A | p.A2171D | Probably damaging | 0.00019 |
| IT18 | 2 | ODZ3 | 4:183522220 | NM_001080477.1 | C | G | p.P219A | Benign | 0 |
| PAPPA | 9:118950074 | NM_002581.3 | G | A | p.V353M | Possibly damaging | 0 | ||
| IT19 | 1 | CEL | 9:135939864 | NM_001807.4 | T | A | p.V50E | Probably damaging | 0 |
| IT20 | 1 | PROS1 | 3:93598107 | NM_000313.3 | G | A | p.R515H | Benign | 0 |
| IT21 | 1 | ZWILCH | 15:66821226 | NM_017975.3 | G | A | p.V336I | Benign | 0 |
| IT22 | 1 | SHD | 19:4290547 | NM_020209.3 | C | T | p.L314F | Benign | 0 |
| IT23 | 1 | SH2D3A | 19:6755290 | NM_005490.2 | C | T | p.T178M | Benign | 0 |
Note: Trios without DNM are not included.