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Source ID
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Nucl. change
Protein change
TOM
Add. mut.
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Notes
Shaheen et al. 2016 HP63 F-47-83 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-84 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 0 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-85 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Estrada-Cuzcano et al. 2012 (a) HQVO 13/F BBS1 p.Met390Arg/p.Arg268Pro MS/MS F 1 1 1 0 0 0 0 0 Netherland
Janssen et al. 2011 HSBG AR232 (A2839)-4 BBS10 c.271_272insT/c.1677delC p.Cys91fs*5/p.Tyr559fs*1 cLOF/cLOF 1 1 1 1 0 N. European
Janssen et al. 2011 HWI6 AR248 (A2843) -5 BBS12 c.998G>A/c.998G>A p.Gly333Glu/p.Gly333Glu MS/MS 1 1 1 1 1 N. European
Deveault et al. 2011 HX4N 70 BBS10 p.Lys243Ilefs*15/p.Lys243Ilefs*15 cLOF/cLOF M 10-19 17 1 1 1 1 1! 1 1 1 South African Black/European/Asian
Katsanis et al. 2001 HYFU AR237 2 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS
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 1 1 1 1 1 1 1 European/American
Lindstrand et al. 2016 I6N5 RC2-03 BBS2 c.367A>G/c.367A>G p.Ile123Val/p.Ile123Val MS/MS
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 M 0-9 6 1 0 1 1 1 1 Latino
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Leitch et al. 2008 I7QX BBS100-03 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
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 F 10-19 10 1 1 1 1 0 1 Middle Eastern
Leitch et al. 2008 I7QX BBS100-05 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
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 F 0-9 7 1 1 1 1 0 1 Middle Eastern
Bennouna-Greene et al. 2011 I8TW 01.07.10 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 21 0 0 0 French
Bennouna-Greene et al. 2011 I8TW 01.07.15 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 18 0 1 0 French
Kerr et al. 2015 IC89 6 BBS10 p.Cys91Leufs*5/p.Glu104Lysfs*7 cLOF/cLOF F 20-39 22 1 1 1 1! 0 1 1! 1 English/Irish/Scottish
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Otto et al. 2010 IDME SS23/A1365_21 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Otto et al. 2010 IDME SS23/A1365_22 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Castro-Sanchez et al. 2015 IJVR GBB36 (I) BBS10 p.Val331Ala/p.Val331Ala MS/MS M 40+ 45 1 1 1 0 1 1 0 Spanish
Schaefer et al. 2011(a) ILMO II.30 BBS16 c.1120C>T/c.1120C>T p.Arg374*/p.Arg374* cLOF/cLOF F 0-9 6 1 1 0 1 1 French
Schaefer et al. 2011(a) ILWY 1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482Serfs*11/p.Asp543Alafs*23 cLOF/cLOF 1 1 0 1 USA
Abu-Safieh et al. 2012 INBL BBS-F012-A BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 INBL BBS-F012-B BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 INBL BBS-F012-C BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Shaheen et al. 2016 INH9 F-192 275 BBS14 c.4811G>A/c.4811G>A p.Trp1604*/p.Trp1604* cLOF/cLOF 1 0 1 Saudi Arabian
Sathya Priya et al. 2015 INPU BBS-K BBS3 c.272T>C/c.272T>C p.Ile91Thr/p.Ile91Thr MS/MS 1 1 1 1 1 0 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