Items: 301 - 325 from 899
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Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Aldahmesh et al. 2014 AOMQ BBS_DG6b BBS7 c.602-2A>T/c.602-2A>T splice/splice cLOF/cLOF F 1 1 1 1 0 0 0 0 Saudi Arabian
Laurier et al. 2006 00OK A2 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 50 1 1 1 1 Lebanese
Al-Hamed et al. 2014 73V9 Affected female-1 BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 1 1 1 1 1 0 1 Saudi Arabian
Laurier et al. 2006 00OK A3 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 47 1 1 1 1 1 Lebanese
Al-Hamed et al. 2014 73V9 Affected female-2 BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 0 1 1 1 1 1 1 Saudi Arabian
Laurier et al. 2006 00OK B4 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 20-39 22 1 1 1 1 Lebanese
Al-Hamed et al. 2014 73V9 Affected male BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF M 0 1 1 1 1 0 1 1 Saudi Arabian
Laurier et al. 2006 00OK B5 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS M 20-39 33 1 1 1 1 Lebanese
Laurier et al. 2006 00OK E1 BBS10 p.Ser311Ala/p.Val11Gly MS/MS M 40+ 70 1 1 1 0 0 Lebanese
Laurier et al. 2006 00OK D4 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 20-39 23 1 1 1 1 0 Lebanese
Azari et al. 2006 PUF2 P2 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 10-19 16 1 1 1 USA
Laurier et al. 2006 00OK D5 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 10-19 18 1 1 1 1 0 Lebanese
Leitch et al. 2008 I7QX BBS100-03 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
[]
 F 10-19 10 1 1 1 1 0 1 Middle Eastern
Leitch et al. 2008 I7QX BBS100-05 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
[]
 F 0-9 7 1 1 1 1 0 1 Middle Eastern
Ullah et al. 2017 AFA6 D V-1 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 Pakistani
Leitch et al. 2008 VPTU L398-03 BBS10 p.Ser73fs*19/p.Ser73fs*19 cLOF/cLOF
[]
 M 0-9 9 1 1 1 1 1 0 1 Lebanese
Ullah et al. 2017 AFA6 D V-2 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 14 1 1 1 1 1 1 Pakistani
Leitch et al. 2008 RXWS PB215-04 BBS13 p.Cys492Trp/p.Phe371del MS/MS M 0-9 2 0 1 1 0 0 0 Turkish
Ullah et al. 2017 8R4R E III-7 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF F 20-39 38 1 1 1 1 0 1 Pakistani
Azari et al. 2006 GBVH P7¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40 0 1 USA
Estrada-Cuzcano et al. 2012 (a) 53FP 10/Fc BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 0 0 0 0 0 French
Leitch et al. 2008 IVV9 KK51-04 BBS14 p.Glu1903*/p.Glu1903* cLOF/cLOF
[]
 F 10-19 11 1 1 0 1 1 0 1 Saudi Arabian
Ullah et al. 2017 8R4R E IV-3 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF M 10-19 17 1 1 1 1 1 1 Pakistani
Azari et al. 2006 GBVH P8¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 1 USA
Leitch et al. 2008 7AAP KK20-04 BBS9 c.2804G>A/c.2804G>A splice/splice cLOF/cLOF
[]
 M 0-9 5 1 1 1 1 1 1 0 1 Saudi Arabian