Table 3 Table caption

Variant Definition

Varian name

Protein Change

c.1042_1043delCT

p.Leu348Valfs*53

c.365G>A

G122E

g.118895235_118901946del6712

Chromosome Position (GRCh37)

Zygosity

Chr11 :118895981_118895982

Homozygote

Chr11: 118898920

Homozygote

Chr11: 118895235 to chr11: 118901946

Homozygote

In-silico Predictive Tools

CADD (Phred Score)

DANN

Polyphen-2

PROVEAN

35(Deleterious)

-

-

-

27.4 (Deleterious)

0.82 (Deleterious)

0.958 (PROBABLYDAMAGING)

2.66 (Deleterious)

-

-

-

-

Population/Disease Databases

1000 GP

ExAC

GenomAD

ESP

HGMD

Clinvar

-

0.00023

0.00018

0.0003

CD982664

VCV000006926

-

-

-

-

-

-

-

-

-

-

-

-