Items: 426 - 450 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
Deveault et al. 2011 JTJM 129 BBS1 p.Met390Arg/splice MS/cLOF M 0-9 9 1 1 1 1 0 1 1 Caucasian
Deveault et al. 2011 D90X 60 BBS10 p.Lys188Thr/p.Ala636Val MS/MS
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 F 0-9 6 1 1 1 1 1 1 Turkish
Deveault et al. 2011 Q2X4 67 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF F 0-9 7 1 1 1 1 1 1 1 South African Black
Deveault et al. 2011 GB4U 64 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 South African Black
Deveault et al. 2011 GZYP 126 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
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 F 0-9 4 1 1 1 1 Denea
Deveault et al. 2011 NF8Q 24 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 0-9 6 1 1 1 1 1 1 1 Pakistani
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
Deveault et al. 2011 4P7U 73 BBS2 p.Arg413*/p.Arg413* cLOF/cLOF
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 M 0-9 3 1 1 1 1 1 1 1 Arabica
Deveault et al. 2011 65LF 69 BBS2 p.Arg622*/p.Ala136Pro cLOF/MS F 0-9 7 1 1 1 1 1 1 South African Black/European/Asian
Deveault et al. 2011 75UO 17 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 F 0-9 7 1 1 1 1 Denea
Deveault et al. 2011 NZLP 130 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 0-9 0 1 1 1 Lebanese
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 WE5M 76 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS M 0-9 8 1 1 1 1 Arabica
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-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
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
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
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
Ece Solmaz et al. 2015 VITC 10 BBS2 c.263delG/c.263delG p.Gly88Alafs*6/p.Gly88Alafs*6 cLOF/cLOF 0-9 8 1 1 1 1 1 1 1 0 1 Turkish
Ece Solmaz et al. 2015 AYQT 6 BBS4 c.406-2A>G/c.406-2A>G splice/splice cLOF/cLOF 0-9 8 1 1 0 1 0 0 0 0 1 Turkish
Khan et al. 2016 (a) 4A6K BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 0-9 6 1 1 1 0 0 0 Saudi Arabian
Suspitsin et al.2015 8ANZ II.4 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF M 0-9 7 1 1 1 1 1 Russian
Suspitsin et al.2015 8ANZ II.6 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF F 0-9 1,5 1 1 Russian
Ece Solmaz et al. 2015 COR8 13 BBS9 c.102_112+2delAAATGGACAAGGT/c.102_112+2delAAATGGACAAGGT p.Asn35*/p.Asn35* cLOF/cLOF 0-9 0,6 0 1 1 0 0 0 0 0 0 Turkish
Leitch et al. 2008 I7QX BBS100-05 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
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 F 0-9 7 1 1 1 1 0 1 Middle Eastern