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Table 1 Crystallin disease-causing variants implicated in ADCC families/isolated cases in present study

From: The genetic landscape of crystallins in congenital cataract

Family

Variant

Gene

HGVSc

HGVSp

Phenotype

CADD

GERP

Mutation taster/verdict

A

Chr21-44589354

CRYAA

c.145C>T

R49C

Nuclear/lamellar

32.00

4.88

Disease causing-0.81/likely pathogenic/recurrent

B

Chr17-27579135

CRYBA1

c.272delGAG

G91del

Nuclear

19.47

5.88

Disease causing-0.81/pathogenic/recurrent

C

Chr2-208986452

CRYGD

c.470G>A

W157*

Pulverulent

39.00

4.25

Disease causing-0.81/pathogenic/recurrent

D

Chr2-208994238

CRYGC

c.179delG

R60Qfs*43

Nuclear

32.00

4.98

Disease causing-0.81/pathogenic/novel

E

Chr22-26995557

CRYBB1

c.656G>A

W219*

Lamellar

43.00

4.21

Disease causing-0.81/pathogenic/novel

F

Chr2-208986530

CRYGD

c.392G>A

W131*

Nuclear

40.00

4.25

Disease causing-0.81/pathogenic/novel

G

Chr21-44592322

CRYAA

c.454delGCC

A152del

Congenital cataract

15.18

3.78

Disease causing-0.81/likely pathogenic/novel

H

Chr22-26995595

CRYBB1

c.618C>A

Y206*

Congenital cataract

38.00

4.21

Disease causing-0.81/pathogenic/novel

I

Chr2-208994404

CRYGC

c.13A>C

T5P

Congenital cataract

24.80

4.96

Disease causing-0.81/likely pathogenic/recurrent

J

Chr2-208986504

CRYGD

c.418C>T

R140*

Nuclear cataract

36.00

4.25

Disease causing-0.81/pathogenic/recurrent

  1. CADD combined annotation dependent depletion, GERP genomic evolutionary rate profiling