Items: 276 - 300 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
Lindstrand et al. 2016 I6N5 RC2-03 BBS2 c.367A>G/c.367A>G p.Ile123Val/p.Ile123Val MS/MS
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 M 0-9 6 1 0 1 1 1 1 Latino
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Lindstrand et al. 2016 FQTJ DM034-004 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 10 1 1 1 0 1 0 NA
Lindstrand et al. 2016 ZFSG KK11-04 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 17 1 1 1 1 1 Saudi Arabian
Lindstrand et al. 2016 MJ9E AR400-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF F 10-19 11 1 1 1 1 1 NA
Lindstrand et al. 2016 ZFQ9 AR800-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF M 0-9 5 1 1 1 1 1 NA
Lindstrand et al. 2016 2JO8 44/3 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
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 M 1 1 1 1 1 1 Israel
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Lindstrand et al. 2016 1WD9 AR634-03 BBS7 deletion of exons 16-17/p.Gln293Pro cLOF/MS F 10-19 17 1 1 0 1 0 1 NA
Lindstrand et al. 2016 1WD9 AR634-04 BBS7 deletion of exons 16-17/p.Gln293Pro cLOF/MS M 10-19 15 1 1 0 1 1 NA
Lindstrand et al. 2014 O9YO DM012-003 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF
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 1 1 1 0 0 1 N. European
Lindstrand et al. 2014 XFT0 RC1-03 BBS10 c.926T>C/c.9_14delTTCTAT p.Leu309Pro/p.Ser3_Met5delinsArg MS/MS
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 1 1 1 1 0 1 Latino
Lindstrand et al. 2014 2JO8 44/4 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
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 1 1 1 0 1 Israel
Lim et al. 2014 NA 1 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 2 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 3 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Leitch et al. 2008 I7QX BBS100-03 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
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 F 10-19 10 1 1 1 1 0 1 Middle Eastern
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
Leitch et al. 2008 VPTU L398-03 BBS10 p.Ser73fs*19/p.Ser73fs*19 cLOF/cLOF
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 M 0-9 9 1 1 1 1 1 0 1 Lebanese
Leitch et al. 2008 RXWS PB215-04 BBS13 p.Cys492Trp/p.Phe371del MS/MS M 0-9 2 0 1 1 0 0 0 Turkish
Leitch et al. 2008 IVV9 KK51-04 BBS14 p.Glu1903*/p.Glu1903* cLOF/cLOF
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 F 10-19 11 1 1 0 1 1 0 1 Saudi Arabian
Leitch et al. 2008 7AAP KK20-04 BBS9 c.2804G>A/c.2804G>A splice/splice cLOF/cLOF
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 M 0-9 5 1 1 1 1 1 1 0 1 Saudi Arabian
Laurier et al. 2006 00OK A2 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 50 1 1 1 1 Lebanese
Laurier et al. 2006 00OK A3 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 47 1 1 1 1 1 Lebanese
Laurier et al. 2006 00OK B4 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 20-39 22 1 1 1 1 Lebanese
Laurier et al. 2006 00OK B5 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS M 20-39 33 1 1 1 1 Lebanese
Laurier et al. 2006 00OK E1 BBS10 p.Ser311Ala/p.Val11Gly MS/MS M 40+ 70 1 1 1 0 0 Lebanese