Items: 751 - 775 from 899
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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
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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Kerr et al. 2015 8WRO 14d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF F 10-19 18 1 1 1 1 0 0 1 1! 1 Iraqi
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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
Kerr et al. 2015 8WRO 15d BBS4 c.IVS3-3c>g/c.IVS3-3c>g splice/splice cLOF/cLOF M 10-19 16 1 1 1 1 0 0 1 0 1 Iraqi
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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
Agha et al. 2013 7E5A IV-1 BBS10 c.1958_1967del/c.1958_1967del p.Ser653Ilefs*4/p.Ser653Ilefs*4 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 0 1 1 Pakistani
Deveault et al. 2011 5J36 46 BBS6 p.Phe94Serfs*9/p.Phe94Serfs*9 cLOF/cLOF M 10-19 18 1 1 1 1 0 1 1 1 1 Newfoundland
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
Ajmal et al. 2013 8PK6 Family A IV:4 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF F 1 1 1 1 0 0 0 0 1 Pakistani
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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Ajmal et al. 2013 8PK6 Family A IV:5 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF M 1 1 0 1 0 0 0 0 1 Pakistani
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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Ajmal et al. 2013 V4HF Family B IV:3 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS M 1 1 1 1 0 0 0 1 Pakistani
Deveault et al. 2011 81EN 71 BBS8 p.Gly162fs*4/p.Ile334fs*1 cLOF/cLOF M 40+ 44 1 1 1 1 1! 1 1 1 Mexican
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Kerr et al. 2015 YWXA 20e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 19 1 1 1 1 0 0 1 1 Pakistani
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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
Alazami et al. 2012 UKL9 JS_F11 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF F 1 0 1 0 0 1 Saudi Arabian
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
Alazami et al. 2012 FLZL JS_F12 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF F 1 1 1 0 1 Saudi Arabian
Ece Solmaz et al. 2015 6FB1 2 BBS1 c.48-3C>G/c.48-3C>G splice/splice cLOF/cLOF 0-9 2,5 0 0 1 1 1 1 0 0 1 Turkish
Schaefer et al. 2016 JSX2 IV.3 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 18 1 1 0 1 0 0 1 Melanesian
Alazami et al. 2012 QH09 JS_F3 BBS14 c.4714G>T/c.4714G>T p.Glu1572*/p.Glu1572* cLOF/cLOF F 0 1 1 0 1 Saudi Arabian