Items: 151 - 175 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
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Notes
Schaefer et al. 2011(a) DRXS I.2.22 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF F 20-39 22 1 1 0 1 1 French
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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Schaefer et al. 2011(a) DRXS I.2.23 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF F 10-19 14 1 1 0 1 1 French
Kerr et al. 2015 KLK2 22 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF F 10-19 15 1 1 0 1 Canadian
Schaefer et al. 2011(a) DRXS I.2.24 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 0-9 8 1 0 0 1 1 French
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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Schaefer et al. 2011(a) DRXS I.2.25 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 20-39 31 1 1 0 1 1 1 French
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
Kerr et al. 2015 Q5T5 21 BBS21 p.Lys102*/p.Lys102* cLOF/cLOF F 10-19 16 1 1 0 0 Canadian
Schaefer et al. 2011(a) KHCD II.22.21 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF M 10-19 19 1 1 0 1 1 1 French
Deveault et al. 2011 UAMN 50 BBS5 p.Gly72Ser/p.Gly72Ser MS/MS M 10-19 16 1 1 1 1! 1 0 1 1 Somalian
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Schaefer et al. 2011(a) KHCD II.22.22 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF F 10-19 15 1 1 0 1 1 1 French
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
Kerr et al. 2015 D9ZV 16 BBS6 p.Cys99Arg/p.Cys99Arg MS/MS M 20-39 24 1 1 1 0 1 1 1 0 Portugese
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Schaefer et al. 2011(b) QIBS I.10 BBS10 c.271_272insT/c.1091delA p.Cys91Leufs*5/p.Asn364Thrfs*5 cLOF/cLOF F 1 0 1 1 1 French
Agha et al. 2013 7E5A IV-3 BBS10 c.1958_1967del/c.1958_1967del p.Ser653Ilefs*4/p.Ser653Ilefs*4 cLOF/cLOF M 0-9 4 1 1 1 1 Pakistani
Deveault et al. 2011 DSU0 72 BBS6 p.Pro299Leu/p.Pro299Leu MS/MS F 10-19 13 1 1 1 0 1 1 0 1 French/Canadian
Schaefer et al. 2011(b) ESHT II.6 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF F 1 1 1 1 1 French
Deveault et al. 2011 IXHU 4 BBS7 /IVS6+2T>C p.Gly63Arg/splice MS/cLOF
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 F 40+ 40 1 1 1 1 0 0 0 1 Italian
Kerr et al. 2015 ARZ9 18 BBS7 p.Arg238Glufs*59/p.Ser374* cLOF/cLOF F 10-19 18 1 1 1 1! 1 1 1 1 Peruvian/Spanish
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Schaefer et al. 2011(b) ZT7M VII.26 BBS10 c.145C>T/c.145C>T p.Arg49Trp/p.Arg49Trp MS/MS F 1 1 1 1 1 French
Deveault et al. 2011 IXHU 5 BBS7 /IVS6+2T>C p.Gly63Arg/splice MS/cLOF M 20-39 33 1 1 1 1 1 1 1 1 Italian
Kerr et al. 2015 YWXA 19e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 17 1 1 1 1! 0 1 Pakistani
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