Table 2.
Frameshift mutations observed in two or more families.
| # | Gene | Frameshift | Chr | Position | RS# | Allele | MAF | Fam# | ProteinChange | Function |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | PRAMEF12 | insertion | 1 | 12837705 | rs199736234 | G/GCC | 0.00314 | 2 | p.Leu474CysfsTer2 | unknown |
| 2 | SHCBP1L | deletion | 1 | 182908602 | rs202104189 | AAATT/A | 0.00192 | 2 | p.Asn285CysfsTer58 | spermatogenesis |
| 3 | PRR21 | deletion | 2 | 240982059 | rs755088823 | CCGTGGGTG/C | 0.10073 | 2 | p.Phe111LeufsTer268 | unknown |
| 4 | PRR21 | deletion | 2 | 240982229 | rs866295021 | GTGGGTGAAGA GCCGTGGATGA AGGGCCA/G | 0.01128 | 2 | p.Met48ThrfsTer329 | unknown |
| 5 | POLN | deletion | 4 | 2074702 | rs3833632 | TG/T | 0.00680 | 2 | p.Gln837SerfsTer8 | unknown |
| 6 | CHST15 | insertion | 10 | 125780762 | rs200905582 | G/GGGGC | 0.00154 | 3 | p.Pro453AlafsTer54 | sulfotransferase |
| 7 | CHST9 | deletion | 18 | 24722722 | rs752084147 | GCA/G | 0.00020 | 2 | p.Val17AlafsTer19 | schizophrenia |
Abbreviations: Chr: chromosome; Fam#: numbers of family detected; MAF: minor allele frequency.