Table 3. Rare Non-Synonymous Variants in Prioritized AVSD Genes.
| Gene | Genomic Position | Base Change | Amino Acid Change | Rare or Novel* | Predicted Damaging?* | Conserved?* | Proband ID |
|---|---|---|---|---|---|---|---|
| NIPBL | 5:36958288 | A>G | N105D | Rare | Yes | Yes | AVSD_88 |
| NIPBL | 5:36962301 | G>A | A179T | Rare | No | Yes | AVSD_65 |
| NIPBL | 5:36976188 | T>G | N393K | Novel | No | Yes | AVSD_15 AVSD_72 |
| NIPBL | 5:37006555 | A>G | M1318V | Novel | Yes | Yes | AVSD_33 |
| NIPBL | 5:37058993 | T>A | S2471T | Novel | Yes | Yes | AVSD_25 |
| CHD7 | 8:61654268 | A>G | T93A | Novel | No | Yes | AVSD_15 |
| CHD7 | 8:61655009 | A>G | M340V | Rare | No | Yes | AVSD_13 AVSD_50 AVSD_66 AVSD_71 |
| CHD7 | 8:61748826 | T>C | Y1325H | Rare | Yes | Yes | AVSD_79 |
| CHD7 | 8:61765598 | C>T | A2105V | Novel | Yes | Yes | AVSD_26 |
| CHD7 | 8:61768745+ | C>G | S2383C | Novel | Yes | Yes | AVSD_49 |
| CHD7 | 8:61769418 | A>C | M2527L | Rare | No | Yes | AVSD_73 |
| CEP152 | 15:49030841 | T>C | T1524A | Rare | No | No | AVSD_19 |
| CEP152 | 15:49048132 | G>C | L1105V | Rare | No | No | AVSD_20 |
| CEP152 | 15:49048567 | A>G | W960R | Rare | Yes | Yes | AVSD_63 AVSD_64 AVSD_72 |
| CEP152 | 15:49064725 | G>T | L581I | Novel | Yes | No | AVSD_41 |
| CEP152 | 15:49076311 | T>C | I394V | Rare | No | No | AVSD_15 |
| CEP152 | 15:49089864 | A>C | S85R | Rare | No | No | AVSD_38 |
| BMPR1a | 10:88681396 | A>T | D429V | Novel | Yes | Yes | AVSD_17 |
| BMPR1a | 10:88683223 | G>A | R478H | Rare | Yes | Yes | AVSD_57 |
| BMPR1a | 10:88683231 | C>T | P481S | Novel | Yes | Yes | AVSD_2 |
| ZFPM2 | 8:106431420 | A>G | E30G | Rare | Yes | Yes | AVSD_53 AVSD_74 |
| ZFPM2 | 8:106456600 | G>A | D98N | Rare | Yes | Yes | AVSD_25 AVSD_10 AVSD_24 |
| ZFPM2 | 8:106813787 | C>T | P361S | Rare | Yes | Yes | AVSD_53 |
| ZFPM2 | 8:106813942 | G>A | M544I | Rare | No | Yes | AVSD_38 AVSD_46 |
| ZFPM2 | 8:106814597 | G>A | V631I | Rare | Yes | Yes | AVSD_74 AVSD_50 |
| ZFPM2 | 8:106815359 | G>A | G885S | Rare | No | Yes | AVSD_45 |
| MDM4 | 1:204518457 | A>C | K324Q | Rare | Yes | Yes | AVSD_10 AVSD_39 AVSD_80 AVSD_85 AVSD_87 |
| MDM4 | 1:204518499 | C>G | P338A | Rare | Yes | Yes | AVSD_29 |
* Genomic position for human genome assembly 37/build 105. ** Refer to the Supplementary Table 4 for additional detail + With the exception of this variant, all variants in Table 3 were covered to a depth of ≥ 30 in the AVSD and EVS cohorts (nucleotide-by-nucleotide coverage assessment)