Items: 876 - 899 from 899
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Source
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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
Iannaccone et al. 2005 M1KN pat3 BBS4 c.77-220del/c.77-220del truncated/truncated cLOF/cLOF M 20-39 27 1 1 0 0 1 1 0 Italian
Shaheen et al. 2016 TFZC F-9-14 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 Saudi Arabian
Innes et al. 2010 KVYU P1 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 10-19 19 1 1 1 0 1 1 1 Hutterite
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 RPFV F-130 196 BBS13 c.1066C>T/c.1066C>T p.Gln356*/p.Gln356* cLOF/cLOF 1 1 Saudi Arabian
Innes et al. 2010 HFPV P3 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 6 1 1 1 Hutterite
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
Shaheen et al. 2016 AYAU F-122 188 BBS14 c.3190del/c.3190del p.Met1064*/p.Met1064* cLOF/cLOF 1 Saudi Arabian
Castro-Sanchez et al. 2015 POGM M79 (1608)§ BBS6 p.Gly250Arg/p.Gly250Arg MS/MS F 20-39 36 1 1 1 1 1 1 0 Spanish
Janssen et al. 2011 K1J5 AR122 (A2831)d -4 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 0 1 1 1 N. European
Shaheen et al. 2016 P78N F-162 233 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 E36R F-171 244 BBS14 c.5824C>T/c.5824C>T p.Gln1942*/p.Gln1942* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 0YU0 F-172 245 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 1 Saudi Arabian
Janssen et al. 2011 X0N3 PB206 (A2024) 0 BBS1 c.IVS5-1G>C/c.IVS5-1G>C splice/splice cLOF/cLOF 1 1 1 1 1 1 Turkish
Janssen et al. 2011 OTUQ A3185 0 BBS10 c.687delA/c.271_272insT p.Pro229fs*8/p.Cys91fs*5 cLOF/cLOF 1 1 1 1 1 USA
Davies et al. 2018 65XJ BBS003 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Shaheen et al. 2016 XJQC F-27-46 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 XJQC F-27-47 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Davies et al. 2018 RJCD BBS005 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 60+ 1 1 1 0 0 1 0 White European
Janssen et al. 2011 8Y4G AR707 (A2864) -8 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 1 1 1 N. European
Deveault et al. 2011 V65S 28 BBS10 p.Cys91Leufs*5/p.Val230Phefs*7 cLOF/cLOF F 20-39 24 1 1 1 1 0 1! 1 1 Polish
Deveault et al. 2011 QGOK 10 BBS10 p.Cys91Trp/p.Val707*fs*1 MS/cLOF
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 F 10-19 17 1 1 1 1! 1! 1 1 English/Irish
Kerr et al. 2015 G3C7 8b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 13 1 1 1 1 1 1! 0 1 French/Canadian
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Kerr et al. 2015 RYP1 17 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS F 0-9 7 1 1 1 0 1! 1 0 Arabica