Items: 26 - 50 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
Deveault et al. 2011 75UO 82 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS
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 M 20-39 22 1 1 1 1 1 1 Denea
Abu-Safieh et al. 2012 ZLPD BBS-F019-B BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
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 1 1 1 1 1 1 0 Saudi Arabian
Deveault et al. 2011 O815 81 BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF F 10-19 17 1 1 1 0 0 1 1 0 NA
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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Deveault et al. 2011 WE5M 76 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS M 0-9 8 1 1 1 1 Arabica
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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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
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
Ajmal et al. 2013 V4HF Family B IV:5 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS F 1 1 1 1 0 0 1 0 0 Pakistani
Ece Solmaz et al. 2015 WBR2 1 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 10-19 16 1 0 1 1 1 0 1 0 1 Turkish
Aldahmesh et al. 2014 UUT5 BBS_DG1b BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS M 1 1 1 1 1 0 1 Saudi Arabian
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
Al-Hamed et al. 2014 73V9 Affected female-2 BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 0 1 1 1 1 1 1 Saudi Arabian
Al-Hamed et al. 2014 73V9 Affected male BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF M 0 1 1 1 1 0 1 1 Saudi Arabian
Azari et al. 2006 H27Y P1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 16 0 1 1 1 1 USA
Azari et al. 2006 R59Q P3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 0 1 1 1 USA
Esposito et al. 2017 QAAA P.8a BBS2 c.84delC/c.1059dupT p.Pro29Argfs*50/p.Asn354* cLOF/cLOF
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 1 1 1 Italian
Estrada-Cuzcano et al. 2012 (a) 5JXT 14/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 1 0 0 1 0 German
Fattahi et al. 2014 O03G 40302 BBS7 c.1342_1346delCAGGC/c.1443T>A p.Gln448Argfs*13/p.Cys481* cLOF/cLOF 1 1 1 0 1 1 1 Iranian
Fattahi et al. 2014 4CJ1 34792 BBS9 c.1789+1G>A/c.1789+1G>A splice/splice cLOF/cLOF 1 1 1 0 1 0 1 Iranian
Young et al. 1998 VNDY 24 BBS3 F 20-39 22 1 1 1 0 1 1 Newfoundland
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
Hjortshoj et al. 2010 VNHI P41 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS
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 M 0-9 7 1 1 1 1 1 1 1 Scandinavian
Castro-Sanchez et al. 2015 SFDV B164 (463) BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 0 0 0 1 1 1 Spanish
Castro-Sanchez et al. 2015 LX4R GBB23 (2128)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 40+ 51 1 1 1 1 1 1 Spanish