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Source ID
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Protein change
TOM
Add. mut.
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Age
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Notes
Ullah et al. 2017 AFA6 D V-1 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 Pakistani
Leitch et al. 2008 VPTU L398-03 BBS10 p.Ser73fs*19/p.Ser73fs*19 cLOF/cLOF
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 M 0-9 9 1 1 1 1 1 0 1 Lebanese
Ullah et al. 2017 AFA6 D V-2 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 14 1 1 1 1 1 1 Pakistani
Lim et al. 2014 NA 1 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 2 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 3 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lindstrand et al. 2014 O9YO DM012-003 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF
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 1 1 1 0 0 1 N. European
Lindstrand et al. 2014 XFT0 RC1-03 BBS10 c.926T>C/c.9_14delTTCTAT p.Leu309Pro/p.Ser3_Met5delinsArg MS/MS
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 1 1 1 1 0 1 Latino
Lindstrand et al. 2016 KOBZ AR883-04 BBS10 c.2119_2120delGT/c.2118_2119delTG p.Val707*/p.Val707fs* cLOF/cLOF
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 M 0-9 4 1 1 1 1 1 NA
White et al. 2006 TGDP Patient A BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 20-39 24 1 1 1 1 1 0 0 1 Omani
White et al. 2006 TGDP Patient B BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 10-19 13 1 1 0 1 1 0 0 1 Omani
White et al. 2006 TGDP Patient C BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 Omani
White et al. 2006 TGDP Patient D BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF F 0-9 6 1 1 1 1 1 0 0 1 Omani
Bennouna-Greene et al. 2011 L1UE 01.06.06 BBS10 p.Cys91fs*5/p.Leu348fs*13 cLOF/cLOF M 20-39 28 1 1 0 French
Bennouna-Greene et al. 2011 2FSK 04.01.01 BBS10 p.Arg49Trp/p.Leu414Ser MS/MS M 10-19 19 1 0 0 French
Bennouna-Greene et al. 2011 OURF 04.02.02 BBS10 p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF F 10-19 16 1 0 French
Yoon et al. 2014 J447 brother BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 0-9 6,5 1 1 0 1 1 Korean
Bennouna-Greene et al. 2011 NK6A 1.10.19 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 34 1 1 1 French
Yoon et al. 2014 J447 case BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 10-19 17,5 1 1 1 1 1 0 Korean
Bennouna-Greene et al. 2011 LCQ5 1.12.21 BBS10 p.Cys91fs*5/p.Tyr321* cLOF/cLOF M 20-39 30 1 1 0 French
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
M'hamdi et al. 2013 0P3E BBS-F08-A BBS10 c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC p.Ser396Leufs*6/p.Ser396Leufs*6 cLOF/cLOF
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 M 10-19 15 1 1 1 1 1 0 Tunisian
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
M'hamdi et al. 2013 0P3E BBS-F08-B BBS10 c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC p.Ser396Leufs*6/p.Ser396Leufs*6 cLOF/cLOF
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 F 10-19 11 1 1 0 1 1 1 Tunisian
Billingsley et al. 2010 PXHX 60yy BBS10 p.Lys188Thr/p.Ala636Val MS/MS
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 F 0-9 6 1 0 1 1 1 0 1 Turkish