Fa
|
Np
|
Gene
|
Transcript RefSeq
|
Ex
|
NA Changes
|
AA changes
|
Hzyo
|
Pf
|
Reported
|
Gm
|
OMIM Disease
|
SPM
|
ACMG grade
|
---|
8
|
1
|
USH2A
|
NM_206933
|
41
|
c.8002G > T
|
p.E2668X
|
Het
|
–
|
Novel
|
AR
|
Usher 2A/RP, 39
|
/ / +
|
PVS1 + PM2
|
USH2A
|
NM_206933
|
13
|
c.2802 T > G
|
p.C934W
|
Het
|
2.441e−3/1.915e−4
|
Yes[44]
|
AR
|
Usher 2A/RP, 39
|
+ + +
|
PS1 + PM2 + PP3
|
10
|
1
|
USH2A
|
NM_206933
|
63
|
c.12608A > G
|
p.Q4203R
|
Het
|
9.457e−3/ 3.677e−3
|
Novel
|
AR
|
Usher 2A/RP, 39
|
–
|
PM2 + BP4
|
USH2A
|
NM_206933
|
22
|
c.4758 + 3A > G
|
Splicing
|
Het
|
1.855e−2/ 1.457e−3
|
Yes[64]
|
AR
|
Usher 2A/RP, 39
|
/ / /
|
PS1 + PM2
|
23
|
1
|
USH2A
|
NM_206933
|
66
|
c.14411G > A
|
p.G4804E
|
Het
|
–
|
Novel
|
AR
|
Usher 2A/RP, 39
|
/ / +
|
PM2
|
USH2A
|
NM_206933
|
19
|
c.4217C > A
|
p.S1406X
|
Het
|
–
|
Novel
|
AR
|
Usher 2A/RP, 39
|
+ + +
|
PVS1 + PM2 + PP3
|
53
|
1
|
USH2A
|
NM_206933
|
65
|
c.14287G > A
|
p.G4763R
|
Het
|
–
|
Yes[65]
|
AR
|
Usher 2A/RP, 39
|
+ + +
|
PS1 + PM2 + PP3
|
USH2A
|
NM_206933
|
4
|
c.784 + 2 T > G
|
Splicing
|
Het
|
–
|
Novel
|
AR
|
Usher 2A/RP, 39
|
/ / /
|
PVS1 + PM2
|
19
|
1
|
USH1C
|
NM_153676
|
5
|
c.407G > A
|
p.R136Q
|
Het
|
1.16e−4/ 1.223e−4
|
Novel
|
AR
|
Usher 1C
|
/ / +
|
PM2
|
USH1C
|
NM_153676
|
15
|
c.1250C > T
|
p.T417I
|
Het
|
–
|
Novel
|
AR
|
Usher 1C
|
/ / +
|
PM2
|
13
|
1
|
BBS2
|
NM_031885
|
6
|
c.626 T > C
|
p.L209P
|
Het
|
–
|
Yes[66]
|
AR
|
RP, 74
|
+ + +
|
PS1 + PM2 + PP3
|
BBS2
|
NM_031885
|
1
|
c.79A > C
|
p.T27P
|
Het
|
–
|
Novel
|
AR
|
RP, 74
|
–
|
PM2 + BP4
|
25
|
1
|
LRP5
|
NM_002335
|
15
|
c.3361A > G
|
p.N1121D
|
Het
|
7.528e−3/ 5.616e−4
|
Yes[67]
|
AR
|
FEVR4
|
+ + +
|
PS1 + PM2 + PP3
|
LRP5
|
NM_002335
|
18
|
c.3901G > A
|
p.A1301T
|
Het
|
2.403e−3/ 2.149e−4
|
Novel
|
AR
|
FEVR4
|
−
|
PM2 + BP4
|
56
|
1
|
LRP5
|
NM_002335
|
15
|
c.3377 T > C
|
p.L1126P
|
Het
|
–
|
Novel
|
AR
|
FEVR4
|
+ + +
|
PM2 + PP3
|
LRP5
|
NM_002335
|
22
|
c.4519G > T
|
p.D1507T
|
Het
|
–
|
Novel
|
AR
|
FEVR4
|
+ + +
|
PM2 + PP3
|
24
|
1
|
ABCA4
|
NM_000350
|
5
|
c.553C > T
|
p.Q185X
|
Het
|
–
|
Yes[68]
|
AD
|
AMD2
|
+ + +
|
PVS1 + PS1 + PM2 + PP3
|
26
|
1
|
RS1
|
NM_000330
|
4
|
c.240G > C
|
p.Q80H
|
Hemi
|
–
|
Novel
|
XLR
|
Retinoschisis
|
/ / +
|
PM2 + PP4
|
29
|
1
|
GPR143
|
NM_000273
|
2
|
c.263G > A
|
p.R88Q
|
Hemi
|
–
|
Novel
|
XL
|
Nystagmus 6
|
+ + +
|
PM2 + PP3
|
31
|
1
|
FBN2
|
NM_001999
|
30
|
c.3923dupG
|
p.C1308Wfs*5
|
Het
|
–
|
Novel
|
AD
|
EMD
|
/ / /
|
PVS1 + PM2
|
- Fa denotes Family No.; Np denotes the number of patients; Ex denotes an exon; NA denotes nucleic acid; AA denotes amino acid; Hzyo denotes heterozygosity; Pf denotes the population frequency recorded in the gnomAD database; Gm denotes the genetic model; Disease denotes OMIM disease; SPM denotes SIFT, PolyPhen_2 and Mutation t@sting predicting, ‘ + ’ denotes damaging, ‘-’ denotes benign, and ‘/’ denotes no data. Usher 2A denotes Usher syndrome, type 2A; RP,39 denotes retinitis pigmentosa, type 39; Usher 1C denotes Usher syndrome, type 1C; RP,74 denotes retinitis pigmentosa, type 74; FEVR4 denotes familial exudative vitreoretinopathy, type 4; AMD2 denotes age-related macular degeneration, type 2; Nystagmus 6 denotes nystagmus, type 6, congenital, X-linked; EMD denotes macular degeneration, early onset