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Protein change
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Add. mut.
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Notes
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
Estrada-Cuzcano et al. 2012 (a) XZ97 4/M BBS1 p.Met390Arg/p.Cys377Trpfs*36 MS/cLOF M 1 0 0 0 0 1 0 0 Netherland
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 10-19 17 1 1 Netherland
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:2 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 10-19 10 1 1 Netherland
Katsanis et al. 2000 SZVU NF-B1 1 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 SZVU NF-B1 2 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 Y5Z6 NF-B13 1 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 Y5Z6 NF-B13 2 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 GLPO NF-B3 1 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 GLPO NF-B3 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 0 1 Newfoundland
Katsanis et al. 2000 H6BV NF-B4 1 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 H6BV NF-B4 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 RAHD NF-B5 BBS6 p.Leu277Pro/p.Phe94fs*10 MS/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2001 NITU NFB14§ BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF
[]
 1 1 1 1 1 1 Newfoundland
Deveault et al. 2011 5J36 46 BBS6 p.Phe94Serfs*9/p.Phe94Serfs*9 cLOF/cLOF M 10-19 18 1 1 1 1 0 1 1 1 1 Newfoundland
Fan et al. 2004 GC3Y PID 22 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 42 1 1 0 0 Newfoundland
Fan et al. 2004 GC3Y PID 9 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS
[]
 F 40+ 62 1 1 0 1 1 Newfoundland
Young et al. 1998 VNDY 14 BBS3 M 40+ 51 1 0 1 0 1 Newfoundland
Young et al. 1998 VNDY 15 BBS3 F 40+ 54 1 1 1 Newfoundland
Young et al. 1998 VNDY 22 BBS3 M 20-39 36 1 1 1 0 Newfoundland
Young et al. 1998 VNDY 23 BBS3 M 20-39 31 1 1 0 Newfoundland
Young et al. 1998 VNDY 24 BBS3 F 20-39 22 1 1 1 0 1 1 Newfoundland
Deveault et al. 2011 QJBM 139 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 0 1 1 0 1 Nicaraguan
Badano et al. 2003 NKEI AR768-03 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF F 0-9 9 1 0 0 1 Northern European
Badano et al. 2003 NKEI AR768-04 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF
[]
 F 0-9 7 1 1 1 1 Northern European