Table 3 Pathogenic VIPAR mutations listed in ARC-LOVD database

VIPAR_00001

1

c.2 T > G

Hom

p.(Met1Arg)

Turkish

[4]

VIPAR_00021

6

c.463_464del

Het

p.(Trp155Glufs*4)

Caucasian

[14]

VIPAR_00022

6

c.484C > T

Het

p.(Arg162*)

Caucasian

[14]

VIPAR_00002

7

c.535C > T

Hom

p.(Gln179*)

Turkish

[4]

VIPAR_00023

9

c.638 T > C

Het

p.(Leu213Pro)

-

[14]

VIPAR_00003

9

c.658C > T

Hom

p.(Arg220*)

Italian

[4]

VIPAR_00003

9

c.658C > T

Het

p.(Arg220*)

Turkish

[4]

VIPAR_00007

10

c.749_753del

Hom

p.(Thr250Argfs*17)

Croatian

[4]

VIPAR_00004

11

c.808C > T

Hom

p.(Arg270*)

Israel

[4],[14]

VIPAR_00020

11i

c.837-1G > T

Hom

p.(?)

-

[14]

VIPAR_00005

12

c.871C > T

Het

p.(Gln291*)

Turkish

[4]

VIPAR_00019

13

c.1021 T > C

Hom

p.(Cys341Arg)

Pakistani

[14]

VIPAR_00006

17

c.1273C > T

Hom

p.(Gln425*)

Turkish

[4]