Table 1.
Deleterious Mutations in ASD and Fragile X Cases
| Case | Diagnosis | Gene | Mutation | cDNA | Protein | Type |
|---|---|---|---|---|---|---|
| 797 | Autism | ADNP | Ms | c.3281G>T | p.G1094V | Germline |
| AN16641 | Autism | ARID1B | Ms | c.4237C>T | p.P1413S | Germline |
| AN17515 | Autism | ARID1B | Ms | c.1463C>G | p.P488R | Germline |
| 5340 | Autism/Parkinson's Disease | ATP10A | Ms | c.622C>T | p.R208W | Germline |
| AN16641 | Autism | CACNA1C | Ms | c.3416G>A | p.R1139H | Germline |
| 5006 | Fragile X, premutation | CACNA1C | St | c.2T>C | (start loss) | Somatic |
| 5278 | Autism | CACNA1H | Ms | c.5909C>G | p.S1970C | Germline |
| UK28768 | Autism | CHD8 | Ms | c.2230G>A | p.V744I | Germline |
| 5297 | Autism | GRIN2A | Ms | c.2650G>A | p.D884N | Germline |
| 797 | Autism | PQBP1 | Ms | c.731C>T | p.P244L | Germline |
| AN01570 | Autism | PTEN | Ns | c.195C>A | p.Y65* | Germline |
| 5278 | Autism | SCN1A | Sp | c.602+1G>A | N/A | Somatic |
| AN16115 | Autism | SCN1A | Ms | c.4319C>T | p.A1440V | Germline |
| 4849 | Autism | SCN2A | Ms | c.2021C>A | p.T674K | Germline |
| AN04166 | Autism | SCN2A | Ms | c.5230G>A | p.G1744R | Germline |
| AN08043 | Autism | SCN2A | Sp | c.4551+1G>C | N/A | Germline |
| AN09714 | Autism | SCN2A | Ns | c.4543C>T | p.R1515* | Germline |
| 1349 | Autism | SEMA5A | Ns | c.586C>T | p.R196* | Germline |
| UK20244 | Autism | SETD2 | Ms | c.4871C>G | p.S1624C | Somatic |
| AN00090 | Autism/Angelman Syndrome | SETD2 | Ms | c.1463A>G | p.Y488C | Germline |
| AN16641 | Autism | SLC6A8 | Fs | c.205_206delG | p.A69Pfs*28 | Germline |