Table 1 Test group: patients carrying sequence variants in USH genes previously detected

RP-808

USH1

CDH23

Intronic

c.6059-9G > A

-----

Pathogenic. UV4

USH1G

Missense

c.387A > G

p.Lys130Glu

UV1

USH1G

Missense

c.423G > A

p.Glu142Lys

UV2

RP-1145

USH2

USH2A

Frameshift duplication

c.10272-10274dup

p.Cys3425Phefs*4

Pathogenic. UV4

USH2A

Nonsense

c.7854G > A

p.Trp2618*

Pathogenic. UV4

DFNB31

Isocoding

c.117G > A

p.Val39Val

UV1

RP-1286^§

USH1

PCDH15

Frameshift insertion

c.1304_1305insC

p.Thr436Tyrfs*12

Pathogenic. UV4

RP-1374

USH1

PCDH15

Nonsense

c.7C > T

p.Arg3*

Pathogenic. UV4

RP-1426

USH1

MYO7A

Missense

c.6610G > C

p.Ala2204Pro

Pathogenic

RP-1522

USH2

USH2A

Frameshift deletion

c.2299delG

p.Glu767Serfs*21

Pathogenic. UV4

CDH23

Missense

c.1096G > A

p.Ala366Thr

UV2

RP-1608^§

USH3

USH2A

Missense

c.9799 T > C

p.Cys3267Arg

Pathogenic. UV4

RP-1614

USH1

MYO7A

Frameshift deletion

c.6025delG

p.Ala2009Profs*32

Pathogenic. UV4

RP-1637

USH2

USH2A

Frameshift duplication

c.5540dupA

p.Asn1848Glufs*20

Pathogenic. UV4

USH2A

Large deletion

Del IVS4_IVS9

p.Gly262Valfs*2

Pathogenic. UV4

RP-1757^§

Atypical

MYO7A

In-frame deletion

c.655_660del

p.Ile219_His220del

Pathogenic. UV4

RP-1760

USH2

USH2A

Missense

c.2296 T > C

p.Cys766Arg

UV3