Items: 701 - 725 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
Estrada-Cuzcano et al. 2012 (a) 5ZO2 9/F BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 1 0 0 0 0 German
Fattahi et al. 2014 KQKK 35201 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 1 1 1 0 1 1 Iranian
Fattahi et al. 2014 GEMF 36000 BBS12 c.2019del/c.2019del p.Trp673Cysfs*7/p.Trp673Cysfs*7 cLOF/cLOF 1 1 1 0 1 0 Iranian
Fattahi et al. 2014 LJ5D 37709 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 0 1 1 0 1 Iranian
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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Fattahi et al. 2014 VO8X 34754 BBS2 c.1003C>T/c.1003C>T p.Gln335*/p.Gln335* cLOF/cLOF 1 1 1 1 1 Iranian
Fattahi et al. 2014 2X8V 34885 BBS2 c.471G>C/c.471G>C p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF 1 1 1 1 0 Iranian
Fattahi et al. 2014 Y3OD 38498 BBS2 c.256_278dup23/c.256_278dup23 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF 0 1 1 1 1 1 Iranian
Fattahi et al. 2014 WJ64 38931 BBS2 c.1910+1G>T/c.1910+1G>T splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
Fattahi et al. 2014 65UG 34881 BBS4 c.829G>A/c.829G>A p.Gly277Arg/p.Gly277Arg MS/MS 1 1 1 1 0 Iranian
Fattahi et al. 2014 WNW3 40568 BBS4 c.77_220del/c.77_220del p.Pro27_Ala74del/p.Pro27_Ala74del cLOF/cLOF 1 1 1 1 1 1 Iranian
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
Fattahi et al. 2014 V7JY 41931 BBS9 c.263+1G>A/c.263+1G>A splice/splice cLOF/cLOF 1 1 1 1 1 Iranian
Fedick et al. 2013 6RJ4 1 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS M 1 1 Ashkenazi Jewish
Fedick et al. 2013 2S6X 2 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS F 1 1 Ashkenazi Jewish
Fedick et al. 2013 PZIT 3 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Fedick et al. 2013 PZIT 4 BBS2 c.311A>C/c.1895G>C p.Asp104Ala/p.Arg632Pro MS/MS 1 1 1 Ashkenazi Jewish
Frank et al. 2007 0ZHU 850 BBS13 c.262-37_179del/c.262-37_179del splice/splice cLOF/cLOF
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 1 1 1 Turkish
Frank et al. 2007 JF8N 937 BBS13 c.1407+2delT/c.1407+2delT splice/splice cLOF/cLOF 1 1 1 Turkish
Frank et al. 2007 NP9T 943 BBS13 c.1408-7_35del/c.417G>A p.Glu139Glu (splice)/p.Glu139Glu (splice) cLOF/cLOF 1 1 1 German
Frank et al. 2007 D3OF 951 BBS13 c.515+1G>A/c.515+1G>A splice/splice cLOF/cLOF 1 1 1 Kuwait
Ghadami et al. 2000 YCV0 III-5 BBS3 M 1 0 1 0 Iranian
Otto et al. 2010 L0I5 FI.2_21 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Ghadami et al. 2000 YCV0 III-9 BBS3 M 1 1 0 Iranian