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Table 2 Characteristics of identified SNPs by individual samples

From: Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing

Muttype

Total

CDS

Synonymous

Missense

Stopgain

Stoploss

Intronic

Intergenic

BAV01

316,629

25,616

12,459

12,157

106

14

153,569

110,077

BAV02

316,788

25,060

12,272

11,774

117

13

155,191

109,148

BAV03

298,898

25,306

12,353

11,989

110

14

148,645

98,309

BAV04

281,407

25,049

12,149

11,959

125

12

142,253

88,484

BAV05

284,138

25,545

12,527

12,142

122

18

144,372

87,640

BAV06

288,281

25,062

12,333

11,950

103

16

142,722

94,138

BAV07

287,824

25,345

12,360

12,074

104

15

143,073

93,256

BAV08

319,790

25,367

12,348

11,965

109

13

157,454

109,216

BAV09

304,337

25,337

12,383

11,968

101

15

152,857

97,962

BAV10

306,704

25,673

12,415

12,272

98

14

152,682

101,295

BAV11

293,218

25,185

12,234

11,940

111

16

147,598

93,446

BAV12

298,719

25,430

12,454

12,058

109

19

146,054

101,176

BAV13

283,332

25,275

12,376

11,928

100

21

142,473

89,719

BAV14

272,788

24,997

12,274

11,881

106

12

138,540

83,700

BAV15

285,330

25,105

12,237

11,848

114

18

143,174

91,339

BAV16

322,148

25,097

12,275

11,886

108

12

157,732

111,678

BAV17

273,457

25,248

12,176

12,017

106

15

144,827

76,696

BAV18

292,524

25,540

12,501

12,071

108

16

147,862

92,285

BAV19

342,694

25,793

12,422

12,286

105

18

169,225

117,441

BAV20

330,585

25,388

12,399

12,017

104

12

174,702

98,433

Average

299,980

25,321

12,347

12,009

108

15

150,250

97,272