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Table 2 Single nucleotide variants identified in our whole-exome screen of OA patients and validated by Sanger sequencing

From: Identification of novel genetic variations affecting osteoarthritis patients

Gene

Chromosome position

AA change

Nucleotide change

Protein ID

dbSNP

ExAC frequency

HSPG2

1,22154535,G,A

p.Arg4174Cys

c.4391C > T

ENSP00000363827

rs199899258

0.00005066

SUSD5

3,33194727,G,A

p.Thr466Met

c.629C > T

ENSP00000308727

rs377664152

0.00009122

ITGA8

10,15628601,G,A

p.Ala785Val

c.1063C > T

ENSP00000367316

rs371802080

0.0000248

PXN

12,120660505,T,C

p.Tyr181Cys

c.605A > G

ENSP00000267257

rs371118243

0.0001199

COL2A1

12,48371204,G,A

p.Arg1058Cys

c.1487C > T

ENSP00000369889

rs148350640

0.00002493

COL6A6

3,130293232,T,C

p.Ile1137Thr

c.2263T > C

ENSP00000351310

rs200274210

0.006855

FIGNL1

7,50513244,A,G

p.Met581Thr

c.674T > C

ENSP00000349356

rs200453649

0.000173

USP36

17,76803235,T,C

p.Arg631Gly

c.1123A > G

ENSP00000441214

rs112843316

0.000082

SPN

16,29676061,C,T

p.Arg338Cys

c.400C > T

ENSP00000353238

rs200681097

0.000485

TNRC6B

22,40661502,G,T

p.Gly423Val

c.1833G > T

ENSP00000401946

rs201057205

0.0003241

SELP

1,169586366,G,T

p.Asn127Lys

c.381G > T

ENSP00000263686

NA

NA

NLRP6

11,281256,G,T

p.Ala508Ser

c.892G > T

ENSP00000309767

rs373174851

0.000101

GAS6

13,114535300,G,A

p.Pro415Leu

c.721C > T

ENSP00000349962

NA

0.0000353