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Nucl. change
Protein change
TOM
Add. mut.
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Notes
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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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 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
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
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
Deveault et al. 2011 F2VY 47 BBS1 p.Ile296Thrfs*7/p.Ile296Thrfs*7 cLOF/cLOF
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 F 0-9 9 1 1 1 0 1 1 1 Pakistani
Janssen et al. 2011 F9UG AR124 (A2832) -3 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Deveault et al. 2011 NAUR 32 BBS1 p.Met1Val/p.Met1Val MS/MS F 20-39 30 1 1 1 0 0 0 1 1 Croatian
Janssen et al. 2011 F9UG AR124 (A2832)-4 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Deveault et al. 2011 NAUR 57 BBS1 p.Met1Val/p.Met1Val cLOF/cLOF F 20-39 32 1 1 1 0 1 0 1 1 Croatian
Janssen et al. 2011 WN8I AR724 (A2866) -5 BBS2 c.175C>T/c.72C>G p.Gln59*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 N. European
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Deveault et al. 2011 ZR8V 19 BBS1 p.Met390Arg/p.Asn524del MS/MS
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 M 20-39 24 1 1 0 0 1 1 1 English
Janssen et al. 2011 CAEM AR839 (A2874) -4 BBS2 c.1438C>T/c.1237C>T p.Arg480*/p.Arg413* cLOF/cLOF 1 1 1 0 0 1 1 N. European
Deveault et al. 2011 1R6I 39 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 25 1 1 1 0 0 0 1 English/Irish
Janssen et al. 2011 RRH7 AR850 (A2878) -3 BBS2 c.72C>G/c.504delG p.Tyr24*/p.Leu168fs*33 cLOF/cLOF 1 1 1 1 1 1 N. European
Deveault et al. 2011 QJBM 139 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 0 1 1 0 1 Nicaraguan
Deveault et al. 2011 0QQE 21 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 29 1 1 1 1 0 0 1 1 English/German/Canadian
Shaheen et al. 2016 NVC9 F-5-6 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 1 1 1 Saudi Arabian
Deveault et al. 2011 W8RW 45 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 25 1 1 1 0 1 1 1 English/Scottish/French/Canadian
Shaheen et al. 2016 NVC9 F-5-7 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 0 1 1 Saudi Arabian
Deveault et al. 2011 NRG3 133 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 21 1 0 1 1 0 1 1 German/Irish/Swedish/Hungarian
Janssen et al. 2011 RGZ9 AR847 (A2877) -3 BBS9 c.2390_2393delAACA/c.2521_2522insAG p.Lys628fs*22/p.Ala672fs*219 cLOF/cLOF 1 1 0 1 1 N. European
Shaheen et al. 2016 R1VC F-66-123 BBS4 c.77_156del/c.77_156del p.Ala26Glyfs*15/p.Ala26Glyfs*15 cLOF/cLOF 1 1 1 Saudi Arabian
Deveault et al. 2011 JTJM 129 BBS1 p.Met390Arg/splice MS/cLOF M 0-9 9 1 1 1 1 0 1 1 Caucasian
Janssen et al. 2011 RGZ9 AR847 (A2877)-4 BBS9 c.2390_2393delAACA/c.2521_2522insAG p.Lys628fs*22/p.Ala672fs*219 cLOF/cLOF 1 1 1 0 1 1 N. European