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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
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Notes
Bujakowska et al. 2015 ZUX3 Family 3, II.2 BBS20 c.770T>C/c.3112-5T>A p.Leu257Pro/splice MS/cLOF 20-39 38 1 0 0 White European
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
Hulleman et al. 2016 E4HN ID SIO101 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS M 10-19 18 1 0 1 0 0 0 0 0 India
Hulleman et al. 2016 E4HN ID SIO102 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS F 10-19 13 1 0 1 0 0 0 0 0 India
Sathya Priya et al. 2015 U9D6 BBS-A BBS4 c.1077-?_1601+?/c.1077-?_1601+? p.?/p.? ?/? 1 0 1 1 0 Indian
Castro-Sanchez et al. 2015 DJ2Y M622-(192)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 93 1 0 0 0 0 0 Spanish
Sathya Priya et al. 2015 DT0L BBS-B BBS6 c.748G>A/c.748G>A p.Gly250Arg/p.Gly250Arg MS/MS 1 0 1 1 0 1 Indian
Castro-Sanchez et al. 2015 IRUP RP1054 (249)§ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 29 1 0 1 0 0 0 0 Spanish
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
Castro-Sanchez et al. 2015 RJRD RP1172 (1416) BBS10 p.Cys91fs*4/p.Glu337del cLOF/MS M 10-19 13 1 0 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
Janssen et al. 2011 8Y4G AR707 (A2864)-9 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 0 1 N. European
Shaheen et al. 2016 7GBT F-15-22 BBS2 c.1015C>T/c.1015C>T p.Arg339*/p.Arg339* cLOF/cLOF 1 1 1 1 Saudi Arabian
Davies et al. 2018 XSEE BBS008 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 40-49 1 1 1 1 0 0 0 White European
Janssen et al. 2011 ZIWZ AR880 (A2881) -4 BBS10 c.271_272insT/c.271_272insT p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF 1 1 1 0 0 N. European
Shaheen et al. 2016 QHSP F-16-23 BBS2 c.806T>G/c.806T>G p.Val269Gly/p.Val269Gly MS/MS 1 1 1 1 1 1 Saudi Arabian
Davies et al. 2018 N5JK BBS009 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30-39 1 1 1 0 0 0 0 White European
Janssen et al. 2011 ODT5 F1 (A2891) -4 BBS10 c.271_272insT/c.391delC p.Cys91fs*5/p.Gln131fs*4 cLOF/cLOF 1 1 1 1 1 1 N. European
Davies et al. 2018 YJGI BBS010 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF M 40+ 50-59 1 1 1 1 0 0 0 White European
Janssen et al. 2011 ODT5 F1 (A2891)-5 BBS10 c.271_272insT/c.391delC p.Cys91fs*5/p.Gln131fs*4 cLOF/cLOF 1 1 1 1 1 1 N. European
Davies et al. 2018 YP1P BBS011 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF M 40+ 50-59 1 1 0 1 0 0 0 White European
Shaheen et al. 2016 K8I8 F-38-62 BBS2 c.508G>A/c.508G>A p.Asp170Asn/p.Asp170Asn MS/MS 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 SZVM BBS-F001-A BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF
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 1 1 1 1 1 1 1 0 Saudi Arabian
Davies et al. 2018 0EMR BBS012 BBS1 p.Met390Arg/p.Tyr284Serfs*5 MS/cLOF F 40+ 50-59 1 1 0 1 0 0 0 White European