Table 2 Summary of OTOF variants detected in this study

Biallelic variants

N = 33

c.[5098G > C];[5098G > C]

p.[Glu1700Gln];[Glu1700Gln]

12

c.[5098G > C];[2521G > A]

p.[Glu1700Gln];[Glu841Lys]

4

c.[5098G > C];[3704_3719del]

p.[Glu1700Gln];[Asp1235AlafsTer30]

2

c.[5098G > C];[4501G > A]

p.[Glu1700Gln];[Ala1501Thr]

2

c.[5098G > C];[1498C > T]

p.[Glu1700Gln];[Arg500Ter]

1

c.[5098G > C];[2279T > C]

p.[Glu1700Gln];[Leu760Pro]

1

c.[5098G > C];[3864G > A]

p.[Glu1700Gln];[Ala1288 =]

1

c.[5098G > C];[4030C > T]

p.[Glu1700Gln];[Arg1344Ter]

1

c.[5098G > C];[5000C > A]

p.[Glu1700Gln];[Ala1667Asp]

1

c.[5098G > C];[5197G > A]

p.[Glu1700Gln];[Glu1733Lys]

1

c.[5098G > C];[5203C > T]

p.[Glu1700Gln];[Arg1735Trp]

1

c.[5098G > C];[5335C > T]

p.[Glu1700Gln];[His1779Tyr]

1

c.[5098G > C];[5566C > T]

p.[Glu1700Gln];[Arg1856Trp]

1

c.[5098G > C];[3894 + 5G > C]

p.[Glu1700Gln];[?]

1

c.[5098G > C];[4023 + 1G > A]

p.[Glu1700Gln];[?]

1

c.[5098G > C];[4961-1G > A]

p.[Glu1700Gln];[?]

1

c.[5098G > C];[5813 + 2T > C]

p.[Glu1700Gln];[?]

1

Monoallelic variants

N = 5

c.[5098G > C];[5098 =]

p.[Glu1700Gln];[Glu1700 =]

3

c.[4023 + 1G > A];[4023 + 1 =]

p.[?];[=]

1

c.[5287A > G];[5287 =]

p.[Arg1763Gly];[Arg1763 =]

1