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Table 1 Detected nonsynonymous variants in the patient revealed by candidate gene sequencing and confirmed by Sanger sequencing

From: New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

Chromosome

Start

End

Refseq

Altered sequence

Gene symbol

Exonic mutation type

chr2

69746096

69746096

T

C

AAK1

nonsynonymous SNV

chr1

229694116

229694116

C

G

ABCB10

nonsynonymous SNV

chr7

150728344

150728344

G

T

ABCB8

nonsynonymous SNV

chr7

45614282

45614282

C

G

ADCY1

nonsynonymous SNV

chr11

62298351

62298351

C

G

AHNAK

nonsynonymous SNV

chr5

74921513

74921513

C

A

ANKDD1B

nonsynonymous SNV

chr5

10649897

10649897

G

A

ANKRD33B

nonsynonymous SNV

chr5

112175876

112175876

C

T

APC

stopgain

chr5

112175918

112175918

A

G

APC

nonsynonymous SNV

chr5

148980794

148980794

G

T

ARHGEF37

nonsynonymous SNV

chr3

130569767

130569767

G

A

ATP2C1

nonsynonymous SNV

chr1

1535392

1535392

G

A

C1orf233

nonsynonymous SNV

chr11

124829898

124829898

C

A

CCDC15

nonsynonymous SNV

chr11

46784694

46784694

G

T

CKAP5

stopgain

chr4

141315195

141315195

C

A

CLGN

stopgain

chr7

51092806

51092806

C

A

COBL

nonsynonymous SNV

chr4

15005450

15005450

G

A

CPEB2

nonsynonymous SNV

chr20

56075374

56075374

G

T

CTCFL

nonsynonymous SNV

chr12

58220819

58220819

A

G

CTDSP2

nonsynonymous SNV

chr12

58220827

58220827

G

C

CTDSP2

nonsynonymous SNV

chr14

59104973

59104973

C

A

DACT1

nonsynonymous SNV

chr14

69589062

69589062

C

A

DCAF5

nonsynonymous SNV

chr4

88536277

88536277

C

A

DSPP

nonsynonymous SNV

chr17

37101383

37101383

G

T

FBXO47

nonsynonymous SNV

chr12

32791811

32791811

A

G

FGD4

nonsynonymous SNV

chr4

123748237

123748237

G

T

FGF2

stopgain

chr6

41565667

41565667

G

T

FOXP4

nonsynonymous SNV

chr6

146678724

146678724

C

T

GRM1

nonsynonymous SNV

chr9

135553823

135553823

A

C

GTF3C4

nonsynonymous SNV

chrX

80370472

80370472

A

C

HMGN5

nonsynonymous SNV

chr20

43034704

43034704

C

A

HNF4A

nonsynonymous SNV

chr7

141401904

141401904

G

T

KIAA1147

nonsynonymous SNV

chr1

66091850

66091850

T

LEPR

frameshift deletion

chr4

83905358

83905358

T

C

LIN54

nonsynonymous SNV

chr2

100938297

100938297

G

A

LONRF2

nonsynonymous SNV

chr5

121406215

121406215

C

A

LOX

nonsynonymous SNV

chr15

101606383

101606383

C

A

LRRK1

nonsynonymous SNV

chr13

113718710

113718710

C

G

MCF2L

nonsynonymous SNV

chr11

86161390

86161390

T

C

ME3

nonsynonymous SNV

chr5

79961093

79961093

C

A

MSH3

nonsynonymous SNV

chr3

130947458

130947458

G

NEK11

frameshift deletion

chr3

52797604

52797604

C

T

NEK4

nonsynonymous SNV

chrX

17394002

17394002

C

T

NHS

nonsynonymous SNV

chr17

28506267

28506267

G

A

NSRP1

nonsynonymous SNV

chr17

28507941

28507941

C

A

NSRP1

nonsynonymous SNV

chr11

6913128

6913128

T

A

OR2D2

nonsynonymous SNV

chr6

163733852

163733852

A

T

PACRG

nonsynonymous SNV

chr6

163733870

163733870

G

C

PACRG

nonsynonymous SNV

chr21

47783755

47783755

T

C

PCNT

nonsynonymous SNV

chr12

118574117

118574117

G

T

PEBP1

nonsynonymous SNV

chr1

64059254

64059254

G

T

PGM1

nonsynonymous SNV

chr3

111688538

111688538

C

A

PHLDB2

nonsynonymous SNV

chr14

53184835

53184835

G

T

PSMC6

nonsynonymous SNV

chr20

49196452

49196452

C

PTPN1

stopgain

chr2

20497410

20497410

C

A

PUM2

nonsynonymous SNV

chr19

913148

913148

G

T

R3HDM4

nonsynonymous SNV

chr17

80009540

80009540

G

T

RFNG

nonsynonymous SNV

chr15

41043685

41043685

T

A

RMDN3

nonsynonymous SNV

chr19

47673139

47673139

C

T

SAE1

nonsynonymous SNV

chr19

50154308

50154308

C

A

SCAF1

nonsynonymous SNV

chr3

38674533

38674533

G

A

SCN5A

nonsynonymous SNV

chr7

94227307

94227307

G

T

SGCE

nonsynonymous SNV

chr21

38120265

38120265

C

A

SIM2

nonsynonymous SNV

chr6

3456742

3456742

G

A

SLC22A23

nonsynonymous SNV

chr1

158590126

158590126

T

A

SPTA1

nonsynonymous SNV

chr2

45812904

45812904

C

A

SRBD1

stopgain

chr13

75900532

75900532

C

T

TBC1D4

nonsynonymous SNV

chr14

104431776

104431776

G

A

TDRD9

nonsynonymous SNV

chr8

23003284

23003284

G

C

TNFRSF10D

nonsynonymous SNV

chr8

23003285

23003285

T

A

TNFRSF10D

nonsynonymous SNV

chr3

189590767

189590767

G

T

TP63

nonsynonymous SNV

chr3

39152470

39152470

A

G

TTC21A

nonsynonymous SNV

chr2

179417341

179417341

G

T

TTN

nonsynonymous SNV

chr2

179590749

179590750

GG

TTN

frameshift deletion

chr17

72246413

72246413

C

T

TTYH2

nonsynonymous SNV

chr16

84806169

84806170

CT

USP10

frameshift deletion

chr3

49349901

49349901

C

T

USP4

nonsynonymous SNV

chr5

76373354

76373354

G

T

ZBED3

nonsynonymous SNV

chr2

187364925

187364925

C

A

ZC3H15

nonsynonymous SNV

chr9

109688202

109688202

A

G

ZNF462

nonsynonymous SNV

chr9

99537070

99537070

C

A

ZNF510

nonsynonymous SNV

chr5

60628634

60628634

G

A

ZSWIM6

nonsynonymous SNV