Table 2 of Sharon, Mol Vis 2015; 21:783-792.
Gene Name | Mutation name | # of Families (# of alleles) | % of the total number of alleles | Origin |
---|---|---|---|---|
ADAM9 | c.1087T>A (p.C363S) | 2 (4) | 3.4% | Iraqi Jewish |
BBS1 | c.479G>A (p.R160Q) | 1 (2) | 1.7% | Arab-Muslim |
CDHR1 | c.1381C>T
(p.Gln461*) c.2087_2090del4 (p.D696Afs*3) |
1
(2) 1 (2) |
1.7% 1.7% |
Arab-Muslim
Arab-Muslim |
CNGB1 | c.2284C>T (p.R762C) | 2 (4) | 3.4% | Buchara Jewish |
CRB1 | c.1148G>A
(p.C383Y) c.2498G>A (p.G833D) c.3306G>A (p.G1103R) |
1
(2) 2 (4) 2 (4) |
1.7% 3.4% 3.4% |
Kurdish
Jewish
Iraqi Jewish Arab-Muslim |
c2orf71 | c.2950C>T
(p.R984*)
c.3289C>T (p.Q1097*) |
1
(1)
1 (1) |
0.8%
0.8% |
Turkey
Jewish Iranian Jewish |
C8orf37 | c.529C>T (p.R177W) | 1 (2) | 1.7% | Arab-Muslim |
DHDDS | c.124A>G (p.K42E) | 8 (16) | 13.8% | Ashkenazi Jewish |
EYS | c.403delA,c.406G>T, c.del410_424 (p.T135Lfs*25) c.1211_1212insA (p.N404Kfs*2) c.8218_8219delCA (p.H2740Yfs*27) c.9286_95del10 (p.V3096Lfs*28) |
5
(9) 1 (2) 1 (1) 1 (2) |
7.7%
1.7% 0.8% 1.7% |
North-African
Jewish
North-African Jewish Iraqi Jewish Ashkenazi Jewish |
FAM161A | c.1355_6delCA
(p.T452Sfs*3)
c.1567C>T (p.R523*) |
6
(12)
1 (2) |
10.3%
1.7% |
North-African
Jewish
Syrian Jewish |
MAK | c.1296_7ins353 (Alu insertion) | 2 (4) | 3.4% | Ashkenazi Jewish |
NR2E3 | c.119–2A>C
(IVS1–2A>C)
c.932G>A (p.R311Q) c.747+1G>C (IVS5+1G>C) c.194–202del9bp (p.N65-C67del) |
2
(2) 2 (2) 1 (1) 1 (1) |
1.7%
1.7% 0.8% 0.8% |
Arab-Muslim
Ashkenazi Jewish Ashkenazi Jewish Ashkenazi Jewish |
PDE6A | c.1960C>T (p.Q654*) | 1 (2) | 1.7% | Arab-Muslim |
RDH12 | c.295C>A
(p.L99I)
c.377C>T (p.A126V) c.658G>A (IVS5+1G>A) c.740T>C (p.L274P) |
2
(4)
2 (4) 1 (2) 1 (2) |
3.4%
1.7% 1.7% 3.4% |
North-African
Jewish Arab-Muslim Arab-Muslim Arab-Muslim |
RPGR | c.259G>T
(p.E87*)
c.592G>A (p.G198R) c.2964_5delGG (p.G998Gfs*88) c.2797delG (p.E943Kfs*155) c.2405_6delAG (p.E802Gfs*31) |
1
(1)
2 (2) 1 (1) 1 (1) 1 (1) |
0.8% 1.7% 0.8% 0.8% 0.8% |
Bedouin
Arab-Muslim Ashkenazi Jewish Ashkenazi Jewish Ashkenazi Jewish |
RP2 | c.530_531delTT (p.F177Yfs*40) | 1 (1) | 0.8% | Ashkenazi Jewish |
SPATA7 | c.288T>A (p.C96*) | 1 (2) | 1.7% | Arab-Muslim |
USH1C | c.1220delG (p.G407Efs*56) | 3 (6) | 5.2% | Yemenite Jewish |
USH2A | c.377delG
(p.S126Ifs*18)
c.3959C>T (p.P1320L) c.6937G>T (p.G2313C) c.12052G>A (p.A4018T) |
1
(1)
1 (1) 1 (1) 1 (1) |
0.8%
0.8% 0.8% 0.8% |
Arab-Muslim
Arab-Muslim Arab-Muslim Arab-Muslim |