Table 2 List of the identified variants and patients’ phenotypes

ROBO1

c.1828G > A

p.Val610Ile

BAV-adult

BAV-AD-1

M

ROBO2

c.639C > G

p.Asp213Glu

BAV-adult

BAV-AD-2

F

ROBO2

c.2431C > T

p.Arg811Trp

BAV-Ped

BAV-PED-1

M

ROBO3

c.968C > T

p.Thr323Met

ToF

ToF-PED-2

M

ROBO3

c.1615C > T

p.Arg539Trp

ToF

ToF-PED-3

F

ROBO3

c.2576C > A

p.Pro859Gln

BAV-Ped

BAV-PED-4

M

ROBO3

c.2993G > T

p.Gly998Val

CoA-Ped

CoA-PED-5

M

ROBO3

c.3478C > T

p.Pro1160Ser

ToF

ToF-PED-6

F

ROBO4

c.908C > A

p.Ala303Asp

BAV-Ped

BAV-PED-7

F

ROBO4

c.1337C > A

p.Ala446Asp

BAV-Ped

BAV-PED-8

M

ROBO4

c.2326C > T

p.Arg776Cys

ToF / BAV-Ped (unrelated patients)

ToF-PED-9

BAV-PED-10

F

F

ROBO4

c.2723G > A

p.Arg908Gln

BAV-Ped

BAV-PED-1

M

ROBO4

c.3001 + 3G > A

–

ToF / BAV-Ped (unrelated patients)

ToF-PED-11

BAV-PED-12

M

M

SLIT1

c.446C > T

p.Pro149Leu

BAV-Ped

BAV-PED-13

M

SLIT1

c.789C > A

p.Cys263Ter

BAV-Ped

BAV-PED-14

F

SLIT1

c.1363C > A

p.Arg455Ser

BAV-Ped

BAV-PED-15

M

SLIT1

c.3757G > A

p.Ala1253Thr

BAV-Ped

BAV-PED-16

M

SLIT1

c.4020A > C

p.Glu1340Asp

BAV-Ped

BAV-PED-7

F

SLIT1

c.4145A > G

p.His1382Arg

BAV-adult

BAV-AD-3

F

SLIT1

c.4202G > T

p.Cys1401Phe

BAV-Ped

BAV-PED-17

M

SLIT2

c.3877C > A

p.Leu1293Met

BAV-Ped

BAV-PED-13

M

SLIT3

c.1481G > C

p.Arg494Thr

BAV-Ped

BAV-PED-18

F

SLIT3

c.1886G > A

p.Ser629Asn

BAV-adult

BAV-AD-4

F

SLIT3

c.4086C > A

p.Cys1355Ter

BAV-Ped

BAV-PED-19

M