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Table 1 Genes in the panel and rare variants burden comparison between patients and ExAC controls

From: Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk

Gene

PMID

Number of variants in 192 patients' alleles

Allele count in ExAC East Asia group

P value

GATA6

29653232

3

19 in 7684

0.016

GATA5

24796370

2

7 in 7858

0.018

NOTCH1

16025100

9

130 in 7778

0.006

TGFBR1

25145529

1

11 in 8132

0.244

TGFBR2

23578328

2

31 in 8228

0.173

FBN1

24564502

5

132 in 8614

0.227

ELN

14666267

2

68 in 8224

0.675

EGFR

26708639

1

61 in 8592

> 0.999

FLNA

21815255

2

122 in 6610

> 0.999

ACTA2

17994018

0

10 in 8432

N.A

GATA4

21330551

0

144 in 7658

N.A

NKX2-5

25438918

0

10 in 7678

N.A

SMAD6

22275001

0

29 in 8050

N.A

  1. ExAC The Exome Aggregation Consortium, PMID PubMed unique identifier of reference, N.A. not available