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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