Table 2 .Glycosylation or dolichol related genes with mutated alleles

DHDDS

c.192G > A (p.W64X)

Stop

-

c.441-24A > G (p.C148EfsX11)

Intron (splice)

ExAC: 0.00001663

TNKS

c.1945G > A (p.D649N)

Missense

(Polyphen pathogen, SIFT benign)

-

c.899-16362A > T

Intron/ncRNA

-

ALG8

c.1068C > G (p.P356=)

Exon synonymous

-

ALG9

c.-37-77G > A

Intron

-

DDOST

c.679A > G (p.I227V)

Missense

(Polyphen and SIFT benign)

ExAC: 0.00004444

MPDU1

c.393C > T, p.V131 = (rs79286384)

Exon synonymous

Av. he: 0.004

ExAC: 0.0007853

ALG6

c.987 + 43 T > C (rs181709997)

Intron

Av. he: 0.003

ExAC: 0.003458

STT3A

c.88 + 131 T > C (rs191172467)

Intron

Av. he: 0.001+/−0.024

ExAC: no data