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Table 1 List of de novo damaging variants

From: Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

Family Genes Variant type Protein change DNA Change Associated human disease Mouse phenotypea
CC14 PQLC2 M p.V2F c.4G > T NA NA
CC205 PTGER3 M p.A158V c.473C > T NA NA
CC226 ACAN M p.C2282R c.6844 T > C Spondyloepimetaphyseal dysplasia (AR), Osteochondritis dissecans Abnormal liver morphology, enlarged liver
CC234 KRT80 M p.S249C c.745A > T NA NA
CC3 TENM4 M p.R2238W c.6712C > T NA NA
CC35 TMEFF1 M p.H231R c.692A > G NA NA
PXDN F p.P225fs c.673delC Sclerocornea (AD) NA
CC4 MAP2K1 M p.I103S c.308 T > G Noonan's syndrome (AD, AR) NA
CC55 ANKRD11 M p.K1464fs c.4388del-GAGA KBG syndrome (AD) NA
TLN1 M p.R2398W c.7192C > T NA NA
CC7 PPP2R2B F p.G386fs c.1128del-G Spinocerebellar ataxia (AD) NA
CC81 C6 M p.W571C c.1713G > T Complement component 6 deficiency NA
HEATR6 M p.T948I c.2843C > T NA NA
PIK3CA M p.I191M c.573A > G Keratosis seborrheic (AD), cancer Increased pancreatic beta cell number
VC10 PPP1R15B M p.P139H c.416C > A NA Abnormal liver morphology
RTEL1 S p.G973b c.2917G > T Dyskeratosis congenital (AR/AD), Pulmonary fibrosis (AR) NA
TXLNB M p.R211Q c.632G > A NA NA
VC61 CYLD M p.W487L c.1460G > T Familial multiple trichoepitheliomata; Spiegler-Brooke syndrome (AR) Abnormal intestinal epithelium morphology
KCNH3 M p.V195A c.584T > C NA NA
SDC3 M p.R302W c.904C > T NA NA
VC63 ZNF330 M p.F54L c.160T > C NA NA
  1. AR autosomal recessive, AD autosomal dominant, M missense, S stopgain, F frameshift, NA not described
  2. ahepatobiliary/pancreas
  3. bHGVS standard for stop-codons