Items: 401 - 425 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
Hjortshoj et al. 2009 GHP7 FO-05 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF F 10-19 18 1 1 0 1 1 Faroe Islands
Hjortshoj et al. 2009 F6WQ FO-06 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF F 20-39 20 1 1 1 1 1 Faroe Islands
Hjortshoj et al. 2009 XLU7 FO-07 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 0-9 4 1 1 1 0 Faroe Islands
Hjortshoj et al. 2009 JLFX FO-08 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 Faroe Islands
Hjortshoj et al. 2009 4LAO FO-09 BBS1 c.1091+3G>C/c.1091+3G>C splice/splice cLOF/cLOF 20-39 24 1 1 1 1 0 Faroe Islands
Shaheen et al. 2016 NVC9 F-5-6 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 NVC9 F-5-7 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 0 1 1 Saudi Arabian
Schaefer et al. 2011(b) JZRL V.31 BBS6 c.110A>G/c.890T>C p.Tyr37Cys/p.Ile297Thr MS/MS F 1 0 1 1 1 French
Abu-Safieh et al. 2012 N2IG BBS-F006-A BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF
[]
1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 N2IG BBS-F006-B BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF 1 1 0 1 1 0 0 0 Saudi Arabian
M'hamdi et al. 2013 QUPE BBS-F09-A BBS1 c.1110G>A/c.1110G>A splice/splice cLOF/cLOF F 20-39 21 1 1 0 1 0 0 Tunisian
M'hamdi et al. 2013 QUPE BBS-F09-B BBS1 c.1110G>A/c.1110G>A splice/splice cLOF/cLOF F 20-39 29 1 1 1 0 0 0 Tunisian
Schaefer et al. 2011(a) ILMO II.30 BBS16 c.1120C>T/c.1120C>T p.Arg374*/p.Arg374* cLOF/cLOF F 0-9 6 1 1 0 1 1 French
Shaheen et al. 2016 0OE4 F-109 175 BBS13 c.1126dupA/c.1126dupA p.Thr376Asnfs*3/p.Thr376Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 A73A F-92 156 BBS13 c.1126dupA/c.1126dupA p.Thr376Asnfs*3/p.Thr376Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
Suzuki et al. 2016 UFCD 19 BBS1 c.1139G>A/c.1139G>A p.Arg380Gln/p.Arg380Gln MS/MS 1 0 1 0 0 1 Omani
Fattahi et al. 2014 KQKK 35201 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 1 1 1 0 1 1 Iranian
Fattahi et al. 2014 LJ5D 37709 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 0 1 1 0 1 Iranian
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
Esposito et al. 2017 0HCQ P.5 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 Italian
Harville et al. 2010 CCK1 A2876-II1(AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 0 0 0 1 0 1 Europe
Harville et al. 2010 CCK1 A2876-II2 (AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 1 0 1 Europe
Harville et al. 2010 2RC7 A2880-II1 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 0 1 1 Europe
Harville et al. 2010 2RC7 A2880-II2 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 0 Europe
Esposito et al. 2017 CCZB P.6 BBS1 c.1169T>G/c.1642delC p.Met390Arg/p.Leu548Trpfs*31 MS/cLOF 1 0 Italian