Items: 726 - 750 from 899
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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Leitch et al. 2008 VPTU L398-03 BBS10 p.Ser73fs*19/p.Ser73fs*19 cLOF/cLOF
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 M 0-9 9 1 1 1 1 1 0 1 Lebanese
Shaheen et al. 2016 NI0T F-19-27 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 NI0T F-19-28 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Deveault et al. 2011 ERRX 35 BBS9 p.Thr111Leufs*22/p.Thr111Leufs*22 cLOF/cLOF F 20-39 22 1 1 1 1 1 1 1 1 Italian
Deveault et al. 2011 ERRX 36 BBS9 p.Thr111Leufs*22/p.Thr111Leufs*22 cLOF/cLOF F 20-39 20 1 1 1 1 1 1 1 1 Italian
Deveault et al. 2011 NZLP 130 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 0-9 0 1 1 1 Lebanese
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
Fattahi et al. 2014 2X8V 34885 BBS2 c.471G>C/c.471G>C p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF 1 1 1 1 0 Iranian
Chaki et al. 2011 HIJ9 F101-21 BBS14 c.5163del1/c.1066-1G>A p.Thr1721fs*3/splice cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 7ZKJ F-30-54 BBS9 c.956delC/c.956delC p.Thr319Asnfs*2/p.Thr319Asnfs*2 cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
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
Qi et al. 2017 TTDR BBS6 c.1175C>T/c.1192C>T p.Thr392Met/p.Gln398* MS/cLOF
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 F 10-19 10 1 0 1 1 1 Chinese
Otto et al. 2010 AZ5O NK-F1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482fs*12/p.Asp543fs*24 cLOF/cLOF 1 1 1 1 India
Kerr et al. 2015 KLK2 22 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF F 10-19 15 1 1 0 1 Canadian
Billingsley et al. 2012 MESS 40 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF
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 10-19 16 1 1 0 1 0 1 0 0 1 East Indian
Billingsley et al. 2012 MESS 59 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF 10-19 13 1 1 0 1! 0 1 1 1 1 East Indian
Schaefer et al. 2011(a) ILWY 1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482Serfs*11/p.Asp543Alafs*23 cLOF/cLOF 1 1 0 1 USA
Deveault et al. 2011 6HZB 38 BBS12 p.Thr501Met/p.Arg525His MS/MS
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 F 0-9 4 1 1 1 1 1 1 1 0 1 Ghanian
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
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
Katsanis et al. 2001 WIEN PB043\ BBS2 p.Thr560Ile/p.Thr560Ile MS/MS
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 0 1 1 0 1 European/American
Yoon et al. 2014 J447 brother BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 0-9 6,5 1 1 0 1 1 Korean
Yoon et al. 2014 J447 case BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 10-19 17,5 1 1 1 1 1 0 Korean
Esposito et al. 2017 Q6AP P.13 BBS10 c.235dupA/c.271dupT p.Thr79Asnfs*17/p.Cys91Leufs*5 cLOF/cLOF 1 1 Italian