Items: 176 - 200 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
Abu-Safieh et al. 2012 A60R BBS-F031-A BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF
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1 1 1 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 75UO 16 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 20-39 30 1 1 1 1 0 Denea
Kerr et al. 2015 IC89 6 BBS10 p.Cys91Leufs*5/p.Glu104Lysfs*7 cLOF/cLOF F 20-39 22 1 1 1 1! 0 1 1! 1 English/Irish/Scottish
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Abu-Safieh et al. 2012 JMQS BBS-F030-A BBS5 c.158C>T/c.158C>T p.Thr53Ile/p.Thr53Ile MS/MS
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1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 75UO 18 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 40+ 43 1 1 1 1 1 1 Denea
Kerr et al. 2015 G3C7 7b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 1 French/Canadian
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Abu-Safieh et al. 2012 ZLPD BBS-F019-A BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
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1 1 1 1 1 1 0 Saudi Arabian
Deveault et al. 2011 75UO 82 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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M 20-39 22 1 1 1 1 1 1 Denea
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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Abu-Safieh et al. 2012 ZLPD BBS-F019-B BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
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1 1 1 1 1 1 0 Saudi Arabian
Deveault et al. 2011 UHVP 123 BBS2 p.Lys39Lys (splice)/p.Arg324* cLOF/cLOF M 20-39 23 1 1 1 0 0 0 1 Caucasian
Kerr et al. 2015 G3C7 9b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 0 0 1 French/Canadian
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Abu-Safieh et al. 2012 HF1E BBS-F022-A BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 0 1 0 0 Saudi Arabian
Deveault et al. 2011 NZLP 130 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 0-9 0 1 1 1 Lebanese
Kerr et al. 2015 OVPA 10c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 18 1 1 1 1 0 1 1 German/Italian
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Abu-Safieh et al. 2012 INBL BBS-F012-A BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 1 0 0 Saudi Arabian
Deveault et al. 2011 NZLP 142 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 10-19 11 1 1 1 1 1 1 1 Lebanese
Kerr et al. 2015 OVPA 11c BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 20-39 20 1 1! 1 1! 0 1 1 German/Italian
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Abu-Safieh et al. 2012 INBL BBS-F012-B BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Deveault et al. 2011 O815 81 BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF F 10-19 17 1 1 1 0 0 1 1 0 NA
Abu-Safieh et al. 2012 INBL BBS-F012-C BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Deveault et al. 2011 1RCS 62 BBS2 p.Tyr317Cys/p.Tyr317Cys MS/MS M 20-39 20 1 1 1 0 0 1 1 Somalian
Kerr et al. 2015 ZRXG 13 BBS2 p.Tyr24*/p.Arg703* cLOF/cLOF F 20-39 28 1 1 1 1! 0 1 Polish
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Deveault et al. 2011 J5Z0 53 BBS5 c.387-618del232/c.387-618del232 p.?/p.? F 20-39 28 1 1 1 1 1 0 1 Jordanian
Abu-Safieh et al. 2012 Z3OQ BBS-F015-B BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
1 6 7 8 9 10 36