Items: 276 - 300 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
Ullah et al. 2017 D8UI C IV-2 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 12 1 1 1 1 1 Pakistani
Ullah et al. 2017 D8UI C IV-6 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS F 10-19 10 1 1 1 1 0 Pakistani
Deveault et al. 2011 D90X 60 BBS10 p.Lys188Thr/p.Ala636Val MS/MS
[]
 F 0-9 6 1 1 1 1 1 1 Turkish
Shaheen et al. 2016 D9R5 F-28-48 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 D9R5 F-28-49 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 D9R5 F-28-50 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 Saudi Arabian
Kerr et al. 2015 D9ZV 16 BBS6 p.Cys99Arg/p.Cys99Arg MS/MS M 20-39 24 1 1 1 0 1 1 1 0 Portugese
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Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
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 F 10-19 19 1 1 1 1 1 Scandinavian
Abu-Safieh et al. 2012 DIFV BBS-F027-A 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 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
Castro-Sanchez et al. 2015 DJ2Y M622-(192)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 93 1 0 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 DJ2Y M622-(708)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 73 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 DJNC GBB16 (3775)‡ BBS10 p.Cys91fs*4/p.Tyr503fs*17 cLOF/cLOF M 0-9 9 1 1 1 1 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 DJNC GBB16 (4038)‡ BBS10 p.Cys91fs*4/p.Tyr503fs*17 cLOF/cLOF M 0-9 7 1 1 1 1 1 1 Spanish
Shaheen et al. 2016 DK1A F-4-5 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Riise et al. 2002 DLS1 IX-1 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 30 1 1 1 0 1 0 Scandinavian
[]
Riise et al. 2002 DLS1 IX-2 BBS4 G>C in the exon 4 splice donor site position +1/G>C in the exon 4 splice donor site position +1 splice/splice cLOF/cLOF M 20-39 32 1 1 1 0 1 0 Scandinavian
[]
Shaheen et al. 2016 DNA0 F-14-20 BBS1 c.831-3C>G/c.1285C>T p.Arg429*/p.Arg429* cLOF/cLOF 1 1 1 1 Saudi Arabian
van Huet et al. 2013 DRB7 D-IV:1 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 20-39 38 1 0 0 0 0 0 NA
van Huet et al. 2013 DRB7 D-IV:3 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 40+ 43 1 0 0 0 0 0 NA
van Huet et al. 2013 DRB7 D-IV:4 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 40+ 40 1 0 0 0 0 0 NA
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
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