Items: 301 - 325 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
Laurier et al. 2006 00OK D4 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 20-39 23 1 1 1 1 0 Lebanese
Laurier et al. 2006 00OK D5 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 10-19 18 1 1 1 1 0 Lebanese
Khan et al. 2016 (b) OZLS IV-4 BBS9 c.299delC/c.299delC p.Ser100Leufs*24/p.Ser100Leufs*24 cLOF/cLOF M 20-39 20 1 1 1 1 0 1 0 0 1 Pakistani
Khan et al. 2016 (b) OZLS Iv-5 BBS9 c.299delC/c.299delC p.Ser100Leufs*24/p.Ser100Leufs*24 cLOF/cLOF F 10-19 18 1 1 1 1 0 1 0 1 Pakistani
Khan et al. 2016 (a) 4A6K BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 0-9 6 1 1 1 0 0 0 Saudi Arabian
Khan et al. 2013 ITYJ B IV-2 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF F 20-39 37 1 1 0 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-3 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 26 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-4 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 20 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-5 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 18 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-6 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 13 1 1 1 1 0 0 Pakistani
Khan et al. 2013 38GY A IV-3 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 20-39 38 1 1 1 0 0 0 0 Pakistani
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
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
Khan et al. 2013 38GY A IV-7 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 26 1 1 1 0 0 0 0 Pakistani
Khan et al. 2013 38GY A V-2 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 19 1 1 1 0 0 0 0 Pakistani
Khan et al. 2013 38GY A V-3 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 10-19 16 1 1 1 0 0 0 Pakistani
Khan et al. 2013 38GY A V-4 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 12 1 0 1 0 0 0 Pakistani
Kerr et al. 2015 03JU 1 BBS1 p.Ile330Thr/p.Arg483* MS/cLOF
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 F 20-39 23 1 1 1 1! 0 1 1 1 Polish
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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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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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Kerr et al. 2015 1GW6 4a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF
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 M 20-39 30 1 1 1 0 0 1! 0 English/Irish/Scotish
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Kerr et al. 2015 IULP 5 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 13 1 1 1 1 Canadian
Kerr et al. 2015 XOZA 12 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF F 10-19 10 1 1 1 0 0 0 Canadian
Kerr et al. 2015 IC89 6 BBS10 p.Cys91Leufs*5/p.Glu104Lysfs*7 cLOF/cLOF F 20-39 22 1 1 1 1! 0 1 1! 1 English/Irish/Scottish
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Kerr et al. 2015 G3C7 7b BBS10 p.Cys91Leufs*5/p.Tyr469* cLOF/cLOF F 10-19 15 1 1 1 0 1 French/Canadian
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