Items: 176 - 200 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
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Janssen et al. 2011 WUGA A1885 0 BBS2 c.823C>T/c.1895G>C p.Arg275*/p.Arg632Pro cLOF/MS 1 0 0 1 0 USA
Abu-Safieh et al. 2012 VXBV BBS-F002-B BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 0 1 0 0 0 Saudi Arabian
Davies et al. 2018 AMYR BBS015 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 0 0 1 0 0 White European
Abu-Safieh et al. 2012 N2IG BBS-F006-A BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF
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 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 N2IG BBS-F006-B BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF 1 1 0 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 ZR8V 19 BBS1 p.Met390Arg/p.Asn524del MS/MS
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 M 20-39 24 1 1 0 0 1 1 1 English
Shaheen et al. 2016 NVC9 F-5-7 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 0 1 1 Saudi Arabian
Kamme et al. 2016 L4YK II-1 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS M 10-19 12 1 1 0 Swedish
Kamme et al. 2016 L4YK II-2 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS F 20-39 28 1 1 0 1 Swedish
Shaheen et al. 2016 QT17 F-25-43 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 0 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-C BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 0 0 0 0 0 1 Saudi Arabian
Deveault et al. 2011 GZYP 128 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 10 0 0 1 1 1 Denea
Abu-Safieh et al. 2012 L4G5 BBS-F004-B BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 0 1 0 0 0 Saudi Arabian
Shin et al. 2015 50Z6 II:1 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 28 1 1 0 1 0 1 1 0 1 Korean
Shin et al. 2015 50Z6 II:2 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 26 1 1 0 1 0 1 1 0 1 Korean
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
Schaefer et al. 2011(a) V42F AR37-02 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 27 1 1 0 1 0 USA
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Schaefer et al. 2011(a) V42F AR37-05 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF M 20-39 22 1 1 0 1 1 0 USA
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Schaefer et al. 2011(a) V42F AR37-07 BBS16 c.696T>G/c.740+1delG p.Tyr232*/splice cLOF/cLOF F 10-19 11 1 1 0 1 1 1 USA
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Schaefer et al. 2011(a) DRXS I.2.21 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 20-39 37 1 0 0 1 French
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
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
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
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