Items: 451 - 475 from 899
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Source
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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 NAUR 32 BBS1 p.Met1Val/p.Met1Val MS/MS F 20-39 30 1 1 1 0 0 0 1 1 Croatian
Deveault et al. 2011 NAUR 57 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 32 1 1 1 0 1 0 1 1 Croatian
Deveault et al. 2011 ZR8V 19 BBS1 p.Met390Arg/p.Asn524del MS/MS
[]
 M 20-39 24 1 1 0 0 1 1 1 English
Abu-Safieh et al. 2012 LNEN BBS-F010-A BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 0 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 1R6I 39 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 25 1 1 1 0 0 0 1 English/Irish
Abu-Safieh et al. 2012 LNEN BBS-F010-B BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 0 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LNEN BBS-F010-C BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 0 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 W8RW 45 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 25 1 1 1 0 1 1 1 English/Scottish/French/Canadian
Abu-Safieh et al. 2012 M722 BBS-F011-A BBS10 c.1365T>G/c.1365T>G p.Tyr455*/p.Tyr455* cLOF/cLOF
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 1 1 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 32AO 79 BBS10 p.Cys91Leufs*5/p.His410Gln cLOF/MS F 10-19 18 1 1 0 0 0 British
Deveault et al. 2011 7233 74 BBS10 p.Cys91Leufs*5/p.Leu414Ser cLOF/MS M 10-19 18 1 1 1 0 1 0 1 British/Canadian/French/German
Abu-Safieh et al. 2012 BBRI BBS-F029-C BBS10 c.728_731del/c.728_731del p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF
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 1 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 DIFV BBS-F027-A BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
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 1 1 1 0 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 DIFV BBS-F027-B BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
[]
 1 1 1 0 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 AUFJ BBS-F028-A BBS12 c.1993_1996del/c.1993_1996del p.Val665Leufs*14/p.Val665Leufs*14 cLOF/cLOF
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 1 1 1 0 1 0 0 Saudi Arabian
Katsanis et al. 2000 GLPO NF-B3 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 0 1 Newfoundland
Abu-Safieh et al. 2012 8HPX BBS-F003-A BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
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 1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-B BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 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
Abu-Safieh et al. 2012 8HPX BBS-F003-D BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
[]
 1 1 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 FKM6 138 BBS10 c.197+1G>T/ splice/p.Leu600Ser cLOF/MS M 10-19 14 1 0 1 0 0 1 Mexican/Norwegian/Danish
Abu-Safieh et al. 2012 8HPX BBS-F003-E BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
Deveault et al. 2011 NF8Q 56 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 10-19 15 1 1 1 0 1 Pakistani
Deveault et al. 2011 XBKC 124 BBS12 p.Gln293Glu/p.Phe372*fs*1 MS/cLOF F 40+ 64 1 1 1 0 1 1 0 Caucasian
Abu-Safieh et al. 2012 W27X BBS-F018-A BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF
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 1 1 1 0 1 0 0 0 Saudi Arabian