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TOM
Add. mut.
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Notes
Azari et al. 2006 C18M P5 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 20 1 1 USA
Harville et al. 2010 C4K2 A2014-II1 BBS1 c.IVS1-1G>A/c.IVS1-1G>A splice/splice cLOF/cLOF 0 1 1 1 1 Turkish
Davies et al. 2018 C4MF BBS001 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 30-39 1 1 0 1 0 0 0 White European
Lindstrand et al. 2016 C6Y3 KK047-05 BBS2 deletion of exons 8-15/deletion of exons 8-15 cLOF/cLOF M 0-9 9 1 1 1 1 1 NA
Chaki et al. 2011 C8Q4 F57-21 BBS14 c.1A>G/c.1419_1423del5 start codon defect/p.Lys473fs*6 cLOF/cLOF 1 0 1 0 NA
Pereiro et al. 2010 CA0L RP1011 II.1 BBS12 p.Gly540Asp/p.Gly540Asp MS/MS 1 1 1 1 1 Caucasian
Janssen et al. 2011 CAEM AR839 (A2874) -4 BBS2 c.1438C>T/c.1237C>T p.Arg480*/p.Arg413* cLOF/cLOF 1 1 1 0 0 1 1 N. European
Harville et al. 2010 CCK1 A2876-II1(AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 0 0 0 1 0 1 Europe
Harville et al. 2010 CCK1 A2876-II2 (AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 1 0 1 Europe
Esposito et al. 2017 CCZB P.6 BBS1 c.1169T>G/c.1642delC p.Met390Arg/p.Leu548Trpfs*31 MS/cLOF 1 0 Italian
Billingsley et al. 2010 CE16 22* BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 14 1 0 1 1 0 1 0 1 German/Italian
Billingsley et al. 2010 CE16 55* BBS10 p.Cys91Trp/p.Ala474Metfs*10 MS/cLOF M 10-19 16 1 1 1 0 0 1 0 1 German/Italian
Castro-Sanchez et al. 2015 CK6O RP1032 (32)¶ BBS10 p.Gln284*/p.Gln284* cLOF/cLOF F 10-19 15 1 1 1 Spanish
Shaheen et al. 2016 CNZJ F-73-134 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 CNZJ F-73-135 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Ece Solmaz et al. 2015 COR8 13 BBS9 c.102_112+2delAAATGGACAAGGT/c.102_112+2delAAATGGACAAGGT p.Asn35*/p.Asn35* cLOF/cLOF 0-9 0,6 0 1 1 0 0 0 0 0 0 Turkish
Marion et al. 2012 CPKG BBE93 BBS17 c.402-406d/c.402-406d p.Pro136Thrfs*/p.Pro136Thrfs* cLOF/cLOF M 10-19 10 1 1 1 1 1 1 0 0 1 Algerian
Chaki et al. 2011 CUV8 A2029-21 BBS14 c.1189G>A/c.5668G>T p.Gly397Ser/p.Gly1890* MS/cLOF 1 1 1 0 NA
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 CXPA RP1322 (1169) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 43 1 0 1 1 0 1 Spanish
Shaheen et al. 2016 CYGK F-39-63 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 D0IN F-77-139 BBS4 c.172C>T/c.172C>T p.Gln58*/p.Gln58* cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Cox et al. 2012 D2VE PT2 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 1 1 0 0 0 USA
Frank et al. 2007 D3OF 951 BBS13 c.515+1G>A/c.515+1G>A splice/splice cLOF/cLOF 1 1 1 Kuwait
Ullah et al. 2017 D8UI C IV-1 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 13 1 1 1 1 1 0 Pakistani