Items: 126 - 150 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
Schaefer et al. 2013 9V5G II:2 BBS17 c.260T>C/c.778G>T p.Leu87Pro/p.Glu260* MS/cLOF F 20-39 36 1 1 1 1 1 French
Deveault et al. 2011 ERRX 36 BBS9 p.Thr111Leufs*22/p.Thr111Leufs*22 cLOF/cLOF F 20-39 20 1 1 1 1 1 1 1 1 Italian
Schaefer et al. 2013 9V5G II:3 BBS17 c.260T>C/c.778G>T p.Leu87Pro/p.Glu260* MS/cLOF F 20-39 36 1 1 1 1 1 French
Alazami et al. 2012 FLZL JS_F12 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF F 1 1 1 0 1 Saudi Arabian
Ece Solmaz et al. 2015 6FB1 2 BBS1 c.48-3C>G/c.48-3C>G splice/splice cLOF/cLOF 0-9 2,5 0 0 1 1 1 1 0 0 1 Turkish
Alazami et al. 2012 QH09 JS_F3 BBS14 c.4714G>T/c.4714G>T p.Glu1572*/p.Glu1572* cLOF/cLOF F 0 1 1 0 1 Saudi Arabian
Ece Solmaz et al. 2015 9PAP 5 BBS1 c.1012C>T/c.1012C>T p.Gln338*/p.Gln338* cLOF/cLOF 20-39 20 1 1 1 1 1 1 0 1 1 Turkish
Scheidecker et al. 2013 SQF2 BBS18 c.173T>G/c.173T>G p.Leu58*/p.Leu58* cLOF/cLOF M 40+ 49 1 1 0 1 0 1 0 Italian
Aldahmesh et al. 2014 UUT5 BBS_DG1a BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS F 1 1 0 1 1 1 Saudi Arabian
Ece Solmaz et al. 2015 XKAW 4 BBS10 c.1856_1865delAAAAATGCCA/c.1856_1865delAAAAATGCCA p.Lys619Ilefs*10/p.Lys619Ilefs*10 cLOF/cLOF 10-19 13 1 0 1 1 0 1 0 0 1 Turkish
Aldahmesh et al. 2014 TUBP BBS_DG5a BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 1 1 1 1 0 1 0 1 Saudi Arabian
Ece Solmaz et al. 2015 0GHE 12 BBS10 c.1547delC/c.1547delC p.Thr516Asnfs*8/p.Thr516Asnfs*8 cLOF/cLOF 0-9 6 1 1 1 1 1 1 0 1 1 Turkish
Aldahmesh et al. 2014 TUBP BBS_DG5b BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 1 1 0 1 0 Saudi Arabian
Ece Solmaz et al. 2015 2ZHF 8 BBS2 c.263delG/c.263delG p.Gly88Alafs*6/p.Gly88Alafs*6 cLOF/cLOF 10-19 13 1 1 1 1 1 1 0 1 1 Turkish
Scheidecker et al. 2015 0AUW Case2 BBS12 p.Pro159Leu/p.Ile346Thr MS/MS M 40+ 45 1 1 1 1 0 1 French
Ece Solmaz et al. 2015 VITC 10 BBS2 c.263delG/c.263delG p.Gly88Alafs*6/p.Gly88Alafs*6 cLOF/cLOF 0-9 8 1 1 1 1 1 1 1 0 1 Turkish
Aldahmesh et al. 2014 TUBP BBS_DG5d BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 0 1 0 1 0 1 Saudi Arabian
Scheidecker et al. 2015 8ODK Case7 BBS6 p.Met1Ile/p.Tyr37Cys MS/MS M 20-39 36 1 1 1 0 0 1 French
Ece Solmaz et al. 2015 3AJL 11 BBS7 c.949C>G/c.949C>G p.Leu317Val/p.Leu317Val MS/MS 10-19 19 1 1 0 1 0 1 0 1 1 Turkish
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
Aldahmesh et al. 2014 AOMQ BBS_DG6a BBS7 c.602-2A>T/c.602-2A>T splice/splice cLOF/cLOF F 1 1 1 1 0 1 0 0 Saudi Arabian
Khan et al. 2016 (b) OZLS Iv-5 BBS9 c.299delC/c.299delC p.Ser100Leufs*24/p.Ser100Leufs*24 cLOF/cLOF F 10-19 18 1 1 1 1 0 1 0 1 Pakistani
Esposito et al. 2017 SC5U P.1 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
Suzuki et al. 2016 WMKD 4 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
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
1 … 4 5 6 7 8 … 36