Items: 276 - 300 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. 2016 JSX2 IV.3 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 18 1 1 0 1 0 0 1 Melanesian
Ece Solmaz et al. 2015 DWMJ 3 BBS1 c.851delA/c.851delA p.Tyr284Serfs*5/p.Tyr284Serfs*5 cLOF/cLOF 10-19 16 1 1 1 1 1 0 0 1 1 Turkish
Khan et al. 2013 ITYJ B IV-5 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 18 1 1 1 1 0 0 0 Pakistani
Schaefer et al. 2016 JSX2 IV.5 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 13 1 1 1 1 0 0 1 Melanesian
Aldahmesh et al. 2014 MZKJ BBS_DG4a BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF M 1 1 1 1 1 0 0 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
Khan et al. 2013 ITYJ B IV-6 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 13 1 1 1 1 0 0 Pakistani
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 MZKJ BBS_DG4b BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF F 1 1 1 1 0 0 Saudi Arabian
Ece Solmaz et al. 2015 WBR2 1 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 10-19 16 1 0 1 1 1 0 1 0 1 Turkish
Khan et al. 2013 38GY A IV-3 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 20-39 38 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 0FX4 Case4 BBS1 p.Met390Arg/p.Gly318Valfs*61 MS/cLOF M 20-39 27 1 0 1 1 0 0 French
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
Khan et al. 2013 38GY A IV-4 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 20-39 35 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 3J2E Case3 BBS10 p.Arg95Ser/p.Val707* MS/cLOF F 20-39 25 1 1 1 0 1 0 French
Aldahmesh et al. 2014 UUT5 BBS_DG1b BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS M 1 1 1 1 1 0 1 Saudi Arabian
Ece Solmaz et al. 2015 O9MY 7 BBS10 c.1024_1025insA/c.1024_1025insA p.Ile342Asnfs*20/p.Ile342Asnfs*20 cLOF/cLOF 10-19 15 1 1 0 1 1 0 0 0 1 Turkish
Khan et al. 2013 38GY A IV-6 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 32 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 NG8A Case5 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 40+ 54 1 1 1 0 1 0 French
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
Khan et al. 2013 38GY A IV-7 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 26 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 NG8A Case6 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 20-39 36 1 1 1 0 1 French
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