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. 2020 Aug 20;14:45. doi: 10.3389/fnint.2020.00045

TABLE 6.

Candidate polymorphisms for polyphasia.

Gene Amino acid change Nucleotide change Chromosome/position Mutation impact (Medium) MAF (ExAC) Linked to human disorders (OMIM, ClinVar, Ensembl)
SYT14 p.Glu270del N/A Chr1 210.267.893 Inframe deletion (AGA/−) 0.12 Cerebral atrophy, macrocephaly seizures and developmental delay, spinocerebellar ataxia with psychomotor retardation
NLRP13 N/A c.2109G > C Chr19 56.426.074 Splice region 0.44 Ductal breast carcinoma, immune response to smallpox, long QT syndrome, exploratory eye movement dysfunction in schizophrenia
SLCO4C1 N/A c.1878G > A Chr5 101.575.091 Splice region 0.33 Hereditary cancer-predisposing syndrome, Type 2 diabetes, obesity
CCDC90B p.Arg127Gln† c.380C > T Chr11 82.973.004 Missense 0.42 Intellectual disability, autism
PARP4 c.3794C > G p.Gly1265Ala Chr13 25.009.485 Missense 0.39 Cancer, sudden cardiac arrest, obesity, intracranial hypertension
SPDYE1 c.833T > C p.Cys278Arg Chr7 44.047.066 Missense 0.42 Williams-Beuren Syndrome