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
Deveault et al. 2011 DSU0 72 BBS6 p.Pro299Leu/p.Pro299Leu MS/MS F 10-19 13 1 1 1 0 1 1 0 1 French/Canadian
Kerr et al. 2015 RYP1 17 BBS6 p.Gly41Arg/p.Gly41Arg MS/MS F 0-9 7 1 1 1 0 1! 1 0 Arabica
Schaefer et al. 2011(b) ZT7M VII.26 BBS10 c.145C>T/c.145C>T p.Arg49Trp/p.Arg49Trp MS/MS F 1 1 1 1 1 French
Schaefer et al. 2011(b) JZRL V.31 BBS6 c.110A>G/c.890T>C p.Tyr37Cys/p.Ile297Thr MS/MS F 1 0 1 1 1 French
Ajmal et al. 2013 V4HF Family B IV:3 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS M 1 1 1 1 0 0 0 1 Pakistani
Ajmal et al. 2013 V4HF Family B IV:5 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS F 1 1 1 1 0 0 1 0 0 Pakistani
Ece Solmaz et al. 2015 WBR2 1 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 10-19 16 1 0 1 1 1 0 1 0 1 Turkish
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
Aldahmesh et al. 2014 UUT5 BBS_DG1a BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS F 1 1 0 1 1 1 Saudi Arabian
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
Aldahmesh et al. 2014 UUT5 BBS_DG1b BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS M 1 1 1 1 1 0 1 Saudi Arabian
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
Scheidecker et al. 2015 NG8A Case5 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 40+ 54 1 1 1 0 1 0 French
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
Scheidecker et al. 2015 NG8A Case6 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 20-39 36 1 1 1 0 1 French
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
Scheidecker et al. 2015 0AUW Case2 BBS12 p.Pro159Leu/p.Ile346Thr MS/MS M 40+ 45 1 1 1 1 0 1 French
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
Scheidecker et al. 2015 LOF5 Case1 BBS5 p.Met1Leu/p.Met1Leu MS/MS M 20-39 37 1 1 1 1 1 0 French
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
Scheidecker et al. 2015 8ODK Case7 BBS6 p.Met1Ile/p.Tyr37Cys MS/MS M 20-39 36 1 1 1 0 0 1 French
Aldahmesh et al. 2014 3LKE BBS_DG9a BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS M 1 1 1 1 1 0 0 0 Saudi Arabian
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
Aldahmesh et al. 2014 3LKE BBS_DG9b BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS M 1 1 1 1 1 0 0 0 Saudi Arabian
Ece Solmaz et al. 2015 3AJL 11 BBS7 c.949C>G/c.949C>G p.Leu317Val/p.Leu317Val MS/MS 10-19 19 1 1 0 1 0 1 0 1 1 Turkish