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Protein change
TOM
Add. mut.
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Notes
Ajmal et al. 2013 8PK6 Family A IV:4 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF F 1 1 1 1 0 0 0 0 1 Pakistani
Ajmal et al. 2013 8PK6 Family A IV:5 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF M 1 1 0 1 0 0 0 0 1 Pakistani
Chaki et al. 2011 3DQF F63-21 BBS14 c.4656del1/c.5668G>T p.Lys1552fs*5/p.Gly1890* cLOF/cLOF 1 1 1 0 NA
Shaheen et al. 2016 ZKT1 F-209 293 BBS20 c.4630C>T/c.4630C>T p.Arg1544Cys/p.Arg1544Cys MS/MS 1 1 Saudi Arabian
Schaefer et al. 2011(b) LDHB IV.3 BBS8 c.459G>A/c.459G>A splice/splice cLOF/cLOF F 1 1 1 1 1 French
M'hamdi et al. 2013 UH14 BBS-F14-A BBS8 c.459+1G>A/c.459+1G>A splice/splice cLOF/cLOF M 0-9 4 1 1 1 0 1 1 Tunisian
M'hamdi et al. 2013 H2VL BBS-F11-A BBS1 c.448C>T/c.448C>T p.Arg146*/p.Arg146* cLOF/cLOF F 20-39 32 1 1 0 1 1 Tunisian
M'hamdi et al. 2013 H2VL BBS-F11-B BBS1 c.448C>T/c.448C>T p.Arg146*/p.Arg146* cLOF/cLOF F 40+ 40 1 1 0 1 0 Tunisian
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
Schaefer et al. 2016 JSX2 IV.3 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 18 1 1 0 1 0 0 1 Melanesian
Schaefer et al. 2016 JSX2 IV.5 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 13 1 1 1 1 0 0 1 Melanesian
Janssen et al. 2011 K1J5 AR122 (A2831)d -4 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 0 1 1 1 N. European
Janssen et al. 2011 YNNI AR603 (A2858) -3 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 1 1 0 1 N. European
Janssen et al. 2011 YNNI AR603 (A2858)-5 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 1 N. European
Abu-Safieh et al. 2012 8HPX BBS-F003-A BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
[]
 1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-B BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-C BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 0 0 0 0 0 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-D BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
[]
 1 1 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-E BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
Bennouna-Greene et al. 2011 4HRZ 1.11.20 BBS6 c.429delCT/c.433delAG p.Asp143fs*6/p.Ser479* cLOF/cLOF M 20-39 24 1 1 0 French
Chaki et al. 2011 BHW5 F159-21 BBS16 c.421-?_740+?del/c.421-?_740+?del p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs* cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 BHW5 F159-22 BBS16 c.421-?_740+?del/c.421-?_740+?del p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs* cLOF/cLOF 0 0 1 0 NA
Ece Solmaz et al. 2015 AYQT 6 BBS4 c.406-2A>G/c.406-2A>G splice/splice cLOF/cLOF 0-9 8 1 1 0 1 0 0 0 0 1 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