Items: 476 - 500 from 899
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
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
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
Khan et al. 2013 38GY A V-2 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 19 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 0AUW Case2 BBS12 p.Pro159Leu/p.Ile346Thr MS/MS M 40+ 45 1 1 1 1 0 1 French
Aldahmesh et al. 2014 TUBP BBS_DG5c BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 1 1 0 0 0 1 Saudi Arabian
Khan et al. 2013 38GY A V-3 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 10-19 16 1 1 1 0 0 0 Pakistani
Scheidecker et al. 2015 LOF5 Case1 BBS5 p.Met1Leu/p.Met1Leu MS/MS M 20-39 37 1 1 1 1 1 0 French
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
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
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
Suspitsin et al.2015 8ANZ II.6 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF F 0-9 1,5 1 1 Russian
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
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
Esposito et al. 2017 SC5U P.1 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
Laurier et al. 2006 00OK A2 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 50 1 1 1 1 Lebanese
Esposito et al. 2017 3JWE P.2 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
Laurier et al. 2006 00OK A3 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 47 1 1 1 1 1 Lebanese
Esposito et al. 2017 3JWE P.4 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 70 1 1 Italian