Location Gene / Transcript Annotation Inheritance /
Genotype
Pathogenicity /
Contribution
Links
7:40041529-40041529
G>A
CDK13
ENST00000181839
c.2252G​>A
missense_variant
(751 R/Q) p.Arg751Gln
De novo constitutive
Heterozygous
Pathogenic
Partial
15:57565375-57565375
C>G
TCF12
ENST00000438423
c.1893C​>G
missense_variant
(631 H/Q) p.His631Gln Exome MAF: 4.06 × 10-6
De novo constitutive
Heterozygous
Likely pathogenic
Partial