Items: 151 - 175 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
Khan et al. 2013 38GY A IV-4 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 20-39 35 1 1 1 0 0 0 0 Pakistani
Badano et al. 2003 V1PO PB009-04 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 M 20-39 35 1 1 1 Northern European
Castro-Sanchez et al. 2015 QGJM M713-(336)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 20-39 35 1 1 0 0 0 0 0 Spanish
Bennouna-Greene et al. 2011 TFG2 05.02.07 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 34 1 1 0 French
Bennouna-Greene et al. 2011 NK6A 1.10.19 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 34 1 1 1 French
Castro-Sanchez et al. 2015 VS17 RP1193 (747) BBS1 p.Met390Arg/p.Arg146* MS/cLOF M 20-39 34 1 1 0 1 0 Spanish
Castro-Sanchez et al. 2015 U1ZZ RP1378 (24)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF F 20-39 34 1 1 0 0 0 Spanish
Deveault et al. 2011 IXHU 5 BBS7 /IVS6+2T>C p.Gly63Arg/splice MS/cLOF M 20-39 33 1 1 1 1 1 1 1 1 Italian
Laurier et al. 2006 00OK B5 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS M 20-39 33 1 1 1 1 Lebanese
Bennouna-Greene et al. 2011 Q3SV 06.01.01 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 33 1 0 0 French
Ghadami et al. 2000 YCV0 IV-9 BBS3 F 20-39 33 1 1 1 0 0 1 Iranian
Riise et al. 2002 PTMJ VIII-2 BBS4 A>C in exon 7 splice acceptor position −2/A>C in exon 7 splice acceptor position −2 splice/splice cLOF/cLOF F 20-39 33 1 1 1 1 0 Scandinavian
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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
Castro-Sanchez et al. 2015 QGJM M713-(337)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 20-39 33 1 1 0 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 ORRW GBB1 (100) BBS10 p.Tyr559fs*17/p.Tyr559fs*17 cLOF/cLOF F 20-39 33 1 1 1 1 1 1 Spanish
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 DUAC 30 BBS10 p.Cys91Leufs*5/p.Tyr559* cLOF/cLOF
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 F 20-39 32 1 1 1 1 0 1 1 Irish
Kerr et al. 2015 1GW6 3a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF F 20-39 32 1 1 1 0 0 0 1 English/Irish/Scotish
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Khan et al. 2013 38GY A IV-6 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 32 1 1 1 0 0 0 0 Pakistani
Badano et al. 2003 V1PO PB009-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 20-39 32 1 1 1 Northern European
Maria et al. 2016 AOD6 F01 IV:2 BBS3 c.534A>G/c.534A>G p.Gln178Gln (splice)/p.Gln178Gln (splice) cLOF/cLOF M 20-39 32 1 1 0 1 1 Pakistani
Yang et al. 2008 TD84 IV:4 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 32 1 1 1 1 1 1 1 Chinese
M'hamdi et al. 2013 H2VL BBS-F11-A BBS1 c.448C>T/c.448C>T p.Arg146*/p.Arg146* cLOF/cLOF F 20-39 32 1 1 0 1 1 Tunisian
Ghadami et al. 2000 YCV0 IV-10 BBS3 F 20-39 32 1 1 1 0 0 0 Iranian
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
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