Table 1.
Position (hg19) | Reference / Variant Allele | Type | Effect | Property | Gene | Pop. | Diagnosis |
---|---|---|---|---|---|---|---|
chr1:3753245-3753259 | CAGGGACTCTGCTG / - | D | Canonical splice site + Inframe | c.1120-3_1131 del, p.A374_L377 del | CEP104 | U.S. | SCZAFF |
chr12: 26816636-26816638 | CTG / AGGTCAGTGTC | D+ I | Frameshift | c.1693_1695 del3ins11, p.Q565fs | ITPR2 | Afr. | SCZ |
chr12: 57843366 | A/ - | D | Frameshift | c.619del1, p.Q207fs | INHBC | Afr. | SCZAFF |
chr16: 30976335 | C / - | D | Frameshift | c.1272 del1, p.D424fs | SETD1A | Afr. | SCZ |
chr16: 30992058-30992059 | AG / - | D | Canonical splice site | c.4582-2_4582-1 del2 | SETD1A | U.S. | SCZ |
D, deletion; I, insertion, Afr., Afrikaner; SCZ, schizophrenia; SCZAFF, schizoaffective disorder.