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Source
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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
Billingsley et al. 2010 F7X3 3x BBS12 p.Val400Met/p.Arg674Cys MS/MS M 20-39 22 1 1 1 0 1 0 1 1 Egyptian
Billingsley et al. 2010 3PNW 56{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 10-19 15 1 1 1 0 1 0 Pakistani
Pawlik et al. 2010 RNS3 IV-2 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 30 1 0 1 0 0 0 0 0 0 Pakistani
Pawlik et al. 2010 RNS3 IV-3 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 27 1 0 1 0 0 0 0 0 0 Pakistani
Pawlik et al. 2010 RNS3 IV-9 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 10-19 19 1 0 1 0 0 0 0 0 0 Pakistani
Pereiro et al. 2010 VJ0Y M250 II.3 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Pereiro et al. 2010 VJ0Y M250 II.6 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Pereiro et al. 2010 CA0L RP1011 II.1 BBS12 p.Gly540Asp/p.Gly540Asp MS/MS 1 1 1 1 1 Caucasian
Harville et al. 2010 WRRU A2003-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 Pakistani
Harville et al. 2010 S9R9 A2015-II1 BBS12 c.1589T>C/c.1589T>C p.Leu530Pro/p.Leu530Pro MS/MS 1 0 1 1 1 1 Pakistani
Harville et al. 2010 LVPF A2017-II1 BBS12 c.1483_1484delGA/c.1483_1484delGA p.Glu495fs*4/p.Glu495fs*4 cLOF/cLOF 1 1 1 0 0 Turkish
Braun et al. 2014 NA 18 BBS12 F 20-39 22 1 1 French
Braun et al. 2014 NA 19 BBS12 M 20-39 39 1 1 French
Sathya Priya et al. 2015 MAED BBS-J BBS12 c.704C>G/c.704C>G p.Pro108Arg/p.Pro108Arg MS/MS 1 1 1 0 0 1 Indian
Sathya Priya et al. 2015 YFO2 BBS-Z BBS12 c.223delC/c.223delC p.Gln75Leufs*37/p.Gln75Leufs*37 cLOF/cLOF 1 1 1 1 0 1 1 Indian
Shaheen et al. 2016 9H7D F-12-18 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 N49S F-21-31 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 N49S F-21-32 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 4SJL 81 BBS12 p.Leu88Arg/p.Asn461Lysfs*10 MS/cLOF F 10-19 14 1 1 1 0 1 1 0 1 1! Spanish
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Shaheen et al. 2016 6TP3 F-22-33 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 NKMZ 164 BBS12 p.Gly539Asp/p.Pro632Phefs*7 MS/cLOF M 40+ 50 1 1 1 1 1! 1 0 1 1! Spanish
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Shaheen et al. 2016 6TP3 F-22-34 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Castro-Sanchez et al. 2015 B2KB GBB35 (I)§ BBS12 p.Gly539Asp/p.Gly539Asp MS/MS F 40+ 49 1 1 1 1 0 1 1 1 1 Spanish
Shaheen et al. 2016 6TP3 F-22-35 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 IZKQ GBB4 (107) BBS12 p.Gly361fs*21/p.Thr380fs*2 cLOF/cLOF M 20-39 24 0 1 1 1 1 0 1 1 Spanish