Table 3 Identified recurrent variants implicated in disease in 20 BAV patients

MIB2

rs376615315

c.C1153T:p.R385W

2

FAAH

rs77101686

c.C1067T:p.A356V

2

S100A1

rs1046256

c.C261G:p.N87K

2

RGS16

rs191231364

c.T184G:p.W62G

2

MAP3K19

rs56349597

c.G3122A:p.R1041H

2

NEB

rs139636644

c.C14183A:p.A4728D

2

NEB

rs149752325

c.G14182A:p.A4728T

2

TTN

rs56137800

c.C54886G:p.P18296A

2

TNS1

rs181295117

c.T2191A:p.S731T

2

TNS1

rs181839905

c.C1500G:p.I500M

2

CAND2

rs180768267

c.A1847G:p.H616R

2

CCK

rs3774395

c.C283T:p.R95W,CCK

2

KALRN

rs78202770

c.C5084A:p.P1695Q

2

ATP10D

rs118048800

c.A221G:p.N74S

2

SLIT3

rs2288792

c.G1184A:p.R395Q

2

ROS1

rs210968

c.T6720G:p.N2240K

2

FABP7

rs2279381

c.C182T:p.T61M

4

NUP205

rs145671518

c.C2356G:p.L786V

2

IL11RA

rs117149170

c.G782A:p.R261H

3

NPR2

rs114147262

c.C2368T:p.R790W

3

COL5A1

rs145178917

c.G378T:p.Q126H

2

CUBN

rs140806389

c.A6938T:p.Y2313F

2

CUBN

rs2271460

c.T6788G:p.F2263C

3

JMJD1C

rs117647164

c.A1253G:p.K418R

2

ANXA7

rs3750575

c.G1136A:p.R379Q

2

TRIM8

rs79218728

c.C718T:p.L240F

2

LGR4

rs149204548

c.G2176A:p.A726T

2

TPCN2

rs78034812

c.C2042T:p.S681L

5

APOA5

rs2075291

c.G553T:p.G185C

4

GPR84

rs77759698

c.T1108C:p.Y370H

3

GPR84

rs11170883

c.G110A:p.G37D

3

LRP1

rs79435985

c.A12161T:p.Y4054F

2

NCOR2

rs184942554

c.G3647A:p.R1216H

2

AKAP11

rs2236364

c.C2162G:p.S721C

2

ESRRB

rs143477571

c.A79G:p.R27G

4

NGB

rs117207261

c.G178C:p.E60Q

3

AKAP13

rs114777682

c.C568T:p.R190C

2

WWOX

rs140817689

c.G129T:p.R43S

2

KCNJ12

rs75029097

c.G433A:p.G145S

20

ARHGEF1

rs2303797

c.C1025T:p.P342L

3