Items: 76 - 100 from 899
CSV export Reset filters
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
Scheidecker et al. 2015 LOF5 Case1 BBS5 p.Met1Leu/p.Met1Leu MS/MS M 20-39 37 1 1 1 1 1 0 French
Khan et al. 2013 38GY A V-4 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 12 1 0 1 0 0 0 Pakistani
Scheidecker et al. 2015 8ODK Case7 BBS6 p.Met1Ile/p.Tyr37Cys MS/MS M 20-39 36 1 1 1 0 0 1 French
Aldahmesh et al. 2014 3LKE BBS_DG9a BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS M 1 1 1 1 1 0 0 0 Saudi Arabian
Khan et al. 2016 (a) 4A6K BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 0-9 6 1 1 1 0 0 0 Saudi Arabian
Suspitsin et al.2015 8ANZ II.4 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF M 0-9 7 1 1 1 1 1 Russian
Aldahmesh et al. 2014 3LKE BBS_DG9b BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS M 1 1 1 1 1 0 0 0 Saudi Arabian
Khan et al. 2016 (b) OZLS IV-4 BBS9 c.299delC/c.299delC p.Ser100Leufs*24/p.Ser100Leufs*24 cLOF/cLOF M 20-39 20 1 1 1 1 0 1 0 0 1 Pakistani
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
Azari et al. 2006 IZFY P10# BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 48 0 1 1 USA
Azari et al. 2006 R59Q P3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 0 1 1 1 USA
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
Azari et al. 2006 C18M P5 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 20 1 1 USA
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
Azari et al. 2006 YPW2 P6 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30 1 1 USA
Estrada-Cuzcano et al. 2012 (a) EOHE 1/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 0 0 0 Netherland
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 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
Estrada-Cuzcano et al. 2012 (a) ONMF 11/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 1 0 0 Italian
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
Ullah et al. 2017 8R4R E IV-4 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF M 10-19 15 1 1 1 1 1 1 Pakistani