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Table 4 Detailed information of candidate variants involved in MAPK signaling pathway

From: Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients

Patient ID

Hypospadias

Gene

Variant

Origin

MAF

MisZ

GERP +  + 

CADD

HSP2004P0199

Midshaft

TRIM67

NM_001004342.3:c.1247G>C

Maternal

0

2.79

5.61

22.9

HSP21034P0006

Midshaft

DAB2IP

NM_138709.2:c.2081G>A

Maternal

0

2.61

4.69

26.1

  1. MAF: minor allele frequency, the maximal populational allele frequency of the variant obtained from 1000 genome database, gnomAD, and an in-house database; MisZ: missense Z-score obtained from the gnomAD database; GO BP: the biological process which the gene is involved in, obtained from the gene ontology database