Table 2 Rare coding variations (n = 38) of WFS1 in patients with early-onset type 2 diabetes.

From: The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes

Position

Region

Codon change

AA change

ACMG*

Allele frequency

1000 Genomes

ExAC

6,303,126

Exon8

TGGTGTGCTTCATGT-T

L535Lfs*3

P

0

0

6,303,589

Exon8

CTGCAGCCACC-C

L689Lfs*18

P

0

0

6,303,602

Exon8

GA-G

E694Gfs*16

P

0

0

6,290,799

Exon4

GCG-GTG

A134V

LP

0

0

6,293,030

Exon5

CAAG-C

K193del

LP

0

0

6,303,407

Exon8

CGG-TGG

R629W

LP

0

0

6,279,355

Exon2

GCG-GTG

A58V

US

0

0.0007

6,279,382

Exon2

CAT-CTT

H67L

US

0

0

6,290,847

Exon4

GCG-GTG

A150V

US

0.005

0.00124

6,292,998

Exon5

GCA-ACA

A179T

US

0

0.00008

6,293,076

Exon5

GGC-AGC

G205S

US

0

0.00012

6,296,873

Exon7

GAG-GCG

E273A

US

0

0.00032

6,302,413

Exon8

ATG-ATA

M297I

US

0

0

6,302,626

Exon8

AGC-AGG

S368R

US

0

0

6,302,741

Exon8

CAT-TAT

H407Y

US

0

0

6,302,756

Exon8

GTC-CTC

V412L

US

0.002

0

6,302,816

Exon8

CTG-GTG

L432V

US

0

0

6,302,927

Exon8

TCG-ACG

S469T

US

0

0

6,302,937

Exon8

CCC-CTC

P472L

US

0

0

6,303,029

Exon8

GTC-ATC

V503I

US

0.002

0.00016

6,303,030

Exon8

GTC-GGC

V503G

US

0

0.00016

6,303,060

Exon8

TAT-TGT

Y513C

US

0

0

6,303,062

Exon8

CTC-TTC

L514F

US

0

0

6,303,197

Exon8

GCC-ACC

A559T

US

0

0.00223

6,303,203

Exon8

ATC-GTC

I561V

US

0

0.00012

6,303,246

Exon8

GCC-GGC

A575G

US

0

0

6,303,368

Exon8

GCC-TCC

A616S

US

0.001

0.00004

6,303,378

Exon8

TCT-TTT

S619F

US

0

0

6,303,479

Exon8

CGC-TGC

R653C

US

0

0.00078

6,303,491

Exon8

ATG-TTG

M657L

US

0

0

6,303,575

Exon8

CGC-TGC

R685C

US

0

0.00036

6,303,644

Exon8

CGC-TGC

R708C

US

0

0.00008

6,303,869

Exon8

TTC-CTC

F783L

US

0

0.00028

6,303,891

Exon8

TCG-TTG

S790L

US

0

0

6,303,936

Exon8

CGG-CAG

R805Q

US

0

0.00008

6,304,086

Exon8

TCA-TTA

S855L

US

0

0.00008

6,304,097

Exon8

CGG-TGG

R859W

US

0

0.00016

6,304,134

Exon8

GTG-GGG

V871G

US

0

0.00044

  1. RefSeq: NP_005996.2, AA change amino acid change, 1000 Genomes 1000 Genomes Project-East Asian, ExAC exome aggregation consortium database-East Asian.
  2. *The classification of rare coding variants according to the guideline of the American College of Medical Genetics and Genomics. Evidences of pathogenicity was detailed in Supplementary Table 1. P pathogenic, LP likely pathogenic, US uncertain significance.