Items: 476 - 500 from 899
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
Kerr et al. 2015 KV2V 2 BBS1 p.Met242Argfs*83/p.Met390Arg cLOF/MS
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F 20-39 29 1 1 1 1 0 0 0 1 English/Scottish/German/Iceland
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Shaheen et al. 2016 KV8M F-34-58 BBS4 c.1226delG/c.1226delG p.Ser409Thrfs*60/p.Ser409Thrfs*60 cLOF/cLOF 1 1 1 Saudi Arabian
Innes et al. 2010 KVYU P1 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 10-19 19 1 1 1 0 1 1 1 Hutterite
Chaki et al. 2011 KYJJ F700-24 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 1 1 0 NA
Chaki et al. 2011 KYJJ F700-26 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 1 1 0 NA
Bujakowska et al. 2015 L077 Family 2, II.1 BBS20 c.4815T>G/c.4815T>G p.Asp1605Glu/p.Asp1605Glu MS/MS 20-39 33 1 0 0 0 White European
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
Otto et al. 2010 L0I5 FI.2_22 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Otto et al. 2010 L0I5 FI.2_23 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Otto et al. 2010 L0I5 FI.2_24 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Katsanis et al. 2000 L1JD AR301 BBS6 p.Tyr58Ala/p.Tyr58Ala MS/MS 1 1 1 0 European/American
Bennouna-Greene et al. 2011 L1UE 01.06.06 BBS10 p.Cys91fs*5/p.Leu348fs*13 cLOF/cLOF M 20-39 28 1 1 0 French
Abu-Safieh et al. 2012 L4G5 BBS-F004-A BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-B BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-C BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-D BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-E BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Kamme et al. 2016 L4YK II-1 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS M 10-19 12 1 1 0 Swedish
Kamme et al. 2016 L4YK II-2 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS F 20-39 28 1 1 0 1 Swedish
Bennouna-Greene et al. 2011 LCQ5 1.12.21 BBS10 p.Cys91fs*5/p.Tyr321* cLOF/cLOF M 20-39 30 1 1 0 French
Castro-Sanchez et al. 2017 LDBP Case 2 BBS2 c.565C>T/c.565C>T p.Arg189*/p.Arg189* cLOF/cLOF F 10-19 14 1 1 1 1 1 0 1 Spanish
Schaefer et al. 2011(b) LDHB IV.3 BBS8 c.459G>A/c.459G>A splice/splice cLOF/cLOF F 1 1 1 1 1 French
Abu-Safieh et al. 2012 LEPV BBS-arRP-F026-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
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1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LEPV BBS-arRP-F026-B BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
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1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LEPV BBS-arRP-F026-C BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
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1 1 1 0 0 0 0 0 Saudi Arabian