Table 1. Genes with multiple de novo variants.
| Gene | Proband ID | variant id (chr-position-ref-var, hg19) |
ExAC v0.3.1 MAF |
RefSeq Transcript ID | Function | CDS position |
Protein position |
Amino acid substitution |
Polyphen2 |
|---|---|---|---|---|---|---|---|---|---|
| CHD5 | pvhnd29397ly1 | 1-6185252-G-A | 0.00004 | NM_015557.2 | synonymous | 4302 | 1434 | N | - |
| CHD5 | pvhcw8001bvg1 | 1-6219435-C-G | 0 | NM_015557.2 | missense | 348 | 116 | K/N | benign |
| CHD5 | pvhit130Lbou1 | 1-6166767-C-A | 0 | NM_015557.2 | missense | 5651 | 1884 | R/L | probably_damaging |
| FLNA | pvhnd39214nu1 | X-153592477-G-C | 0 | NM_001110556.1 | stop_gained | 2193 | 731 | Y/* | - |
| FLNA | pvhcw14103bvj1 | X-153590679-G-A | 0 | NM_001110556.1 | stop_gained | 2587 | 863 | R/* | - |
| FLNA | pvhnd32846lz1 | X-153590679-G-A | 0 | NM_001110556.1 | stop_gained | 2587 | 863 | R/* | - |
| FLNA | pvhnd39654ajz1 | X-153589918-G-A | 0 | NM_001110556.1 | stop_gained | 2965 | 989 | Q/* | - |
| FLNA | pvhnd26332me1 | X-153586868-G-A | 0 | NM_001110556.1 | stop_gained | 4543 | 1515 | R/* | - |
| FLNA | pvhnd29397ly1 | X-153593004-G-A | 0 | NM_001110556.1 | stop_gained | 1912 | 638 | Q/* | - |
| FLNA | pvhnd25061mw1 | X-153588557-C-CCCCG | 0 | NM_001110556.1 | frameshift indel | 3605–3606 | 1202 | - | - |
| FLNA | pvhnd37807nj1 | X-153599348-ATCT-A | 0 | NM_001110556.1 | Inframe indel | 263–265 | 88–89 | KM/M | - |
| FLNA | pvhcw8001bvg1 | X-153581372-C-A | 0 | NM_001456.3 | missense | 6199 | 2067 | A/S | probably_damaging (0.986) |
| PLXNC1 | pvhnd21601lu1 | 12-94658948-TAC-T | 0 | NM_005761.2 | frameshift indel | 3545–3546 | 1182 | - | - |
| PLXNC1 | pvhit256Jbpb1 | 12-94648646-C-T | 0.00001 | NM_005761.2 | missense_variant | 2965 | 989 | R/W | probably_damaging (0.999) |
| UGGT1 | pvhnd27930mf1 | 2-128890752-CG-C | 0 | NM_020120.3 | Frameshift indel | 1416 | 472 | - | - |
| UGGT1 | pvhnd40500bij1 | 2-128855098-A-C | 0 | NM_020120.3 | missense | 154 | 52 | T/P | benign (0.366) |