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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
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Notes
Azari et al. 2006 IZFY P10# BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 48 0 1 1 USA
Castro-Sanchez et al. 2015 1E9W B182 (910) BBS10 p.Val331Ala/p.Leu533Leufs*21 MS/cLOF M 40+ 48 1 1 1 1 1 0 0 1 Spanish
Laurier et al. 2006 00OK A3 BBS10 p.Ser311Ala/p.Ser311Ala MS/MS F 40+ 47 1 1 1 1 1 Lebanese
Maria et al. 2016 B9HM F02 IV:I BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 47 1 0 1 1 1 1 1 Pakistani
Castro-Sanchez et al. 2015 CXPA RP1322 (1168) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 47 1 0 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 0ZFK B260 (1476) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 46 1 0 1 0 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 9WGR GBB2 (102) BBS10 p.Tyr559fs*17/p.Tyr559fs*17 cLOF/cLOF M 40+ 46 1 1 1 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 9VM7 M250-(130)‡ BBS12 p.Phe372fs*1/p.Phe372fs*1 cLOF/cLOF M 40+ 46 1 1 1 1 1 1 1 Spanish
Scheidecker et al. 2015 0AUW Case2 BBS12 p.Pro159Leu/p.Ile346Thr MS/MS M 40+ 45 1 1 1 1 0 1 French
Maria et al. 2016 B9HM F02 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 45 1 0 0 1 1 1 Pakistani
Castro-Sanchez et al. 2015 IJVR GBB36 (I) BBS10 p.Val331Ala/p.Val331Ala MS/MS M 40+ 45 1 1 1 0 1 1 0 Spanish
Deveault et al. 2011 81EN 71 BBS8 p.Gly162fs*4/p.Ile334fs*1 cLOF/cLOF M 40+ 44 1 1 1 1 1! 1 1 1 Mexican
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Azari et al. 2006 GBVH P8¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 1 USA
Braun et al. 2014 NA 4 BBS1 F 40+ 44 1 1 French
Castro-Sanchez et al. 2015 SFDV B164 (463) BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 0 0 0 1 1 1 Spanish
Deveault et al. 2011 FHPR 83 BBS10 p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 40+ 43 1 1 1 1 0 1 1 1 Danish/Dutch/Norwegian
Deveault et al. 2011 75UO 18 BBS2 p.Leu125Arg/p.Leu125Arg MS/MS M 40+ 43 1 1 1 1 1 1 Denea
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
Castro-Sanchez et al. 2015 CXPA RP1322 (1169) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 43 1 0 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 JJXV B17 (132)§ BBS6 p.Leu454Pro/p.Leu454Pro MS/MS F 40+ 43 1 1 1 1 0 1 1 Spanish
Fan et al. 2004 GC3Y PID 22 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 42 1 1 0 0 Newfoundland
van Huet et al. 2013 KOTG B-V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 40+ 41 1 0 1 0 0 0 NA
Castro-Sanchez et al. 2015 WICN M63 (1078)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 M 40+ 41 1 1 1 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 U1ZZ RP1378 (858)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF M 40+ 41 1 1 1 0 Spanish
Davies et al. 2018 VQKL BBS007 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European