Table 2.
ADNP and CHD8 individual genetic variants
| ADNP | ||||||||
|---|---|---|---|---|---|---|---|---|
| ID | Chr. | Position | Ref. | Alt. | c.DNA | p.Variant | Effect | Inheritance |
| 13545.p1 | 20 | 49509094 | G | GT | c.2156_2157insA | p.Tyr719Ter | F | de novo |
| T146.03 | 20 | 49510911 | AG | A | c.339del | p.Phe114SerfsTer47 | F | unknown |
| T149.03 | 20 | 49510203 | CCA | C | c.1046_1047del | p.Leu349ArgfsTer49 | F | de novo |
| T164.03 | 20 | 49508964 | AA | A | c.2287del | p.Ser763ProfsTer9 | F | unknown |
| T171.03 | 20 | 49510963 | GA | G | c.287del | p.Val96AlafsTer65 | F | unknown |
| T176.03 | 20 | 49510149 | G | A | c.1102C>T | p.Gln368Ter | ST-G | unknown |
| T186.03 | 20 | 49510431 | TG | T | c.819del | p.Lys274AsnfsTer31 | F | de novo |
| T195.03 | 20 | 49508751 | CTTTA | C | c.2496_2499del | p.Asn832LysfsTer81 | F | de novo |
| T204.03 | 20 | 49509094 | G | T | c.2157C>A | p.Tyr719Ter | ST-G | de novo |
| T206.03 | 20 | 49518564 | GT | GTT | c.190_191insA | p.Thr64AsnfsTer35 | F | de novo |
| T219.03 | 20 | 49508976 | GACCCTTGGGGTCTAAAGCTAAAACA | G | c.2250_2274del | p.Val751MetfsTer13 | F | de novo |
| CHD8 | ||||||||
|---|---|---|---|---|---|---|---|---|
| ID | Chr. | Position | Ref. | Alt. | c.DNA | p.Variant | Effect | Inheritance |
| 14016.p1 | 14 | 21870169 | G | A | c.4009C>T | p.Arg1337Ter | ST-G | de novo |
| 11654.p1 | 14 | 21871373 | T | C | c.3519-2A>G | N/A | SSA | de novo |
| 12991.p1 | 14 | 21861643 | TCTTC | T | c.6307_6310del | p.Glu2103ArgfsTer3 | F | de novo |
| 14233.p1 | 14 | 21859175 | A | AT | c.7112_7113insA | p.Asn2371LysfsTer2 | F | de novo |
| T126.03 | 14 | 21863460 | C | A | c.5179G>T | p.Glu1727Ter | ST-G | de novo |
| T132.03 | 14 | 21869200 | G | A | c.4204C>T | p.Arg1402Ter | ST-G | de novo |
| T162.03 | 14 | 21871807 | A | AT | c.3322_3323insA | p.Ile1108AsnfsTer7 | F | de novo |
| T178.03 | 14 | 21876929 | TT | T | c.2420del | p.Asn807ThrfsTer78 | F | de novo |
| T181.03 | 14 | 21875068 | G | A | c.2854C>T | p.Arg952Ter | ST-G | de novo |
| T199.03 | 14 | 21878028 | GT | G | c.2345del | p.His782ProfsTer7 | F | de novo |
| T202.03 | 14 | 21870494 | C | T | c.3882+1G>A | N/A | SS | de novo |
Note: Reference genome = hg19. ADNP Accession number = NM_015339.2. CHD8 Accession number = NM_001170629.1. Effect abbreviations F=Frameshift, ST-G=stop-gained, SS=splice site, SSA=splice site acceptor.