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Add. mut.
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Notes
Suzuki et al. 2016 YWJV 9 BBS14 c.6271-8T>G/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese/Paraguayan
Esposito et al. 2017 0HCQ P.5 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 Italian
Suzuki et al. 2016 PVIK 10 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 0 0 1 1 0 1 Japanese
Azari et al. 2006 H27Y P1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 16 0 1 1 1 1 USA
Esposito et al. 2017 CCZB P.6 BBS1 c.1169T>G/c.1642delC p.Met390Arg/p.Leu548Trpfs*31 MS/cLOF 1 0 Italian
Suzuki et al. 2016 ZTJ4 13 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Azari et al. 2006 IZFY P10# BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 48 0 1 1 USA
Esposito et al. 2017 7KX0 P.12 BBS10 c.2137_2140del/c.962A>G p.Lys713Phefs*16/p.Tyr321Cys cLOF/MS
[]
 1 1 Italian
Suzuki et al. 2016 JX2N 25 BBS14 c.1645C>T/c.6012-12T>A p.Arg549*/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Esposito et al. 2017 Q6AP P.13 BBS10 c.235dupA/c.271dupT p.Thr79Asnfs*17/p.Cys91Leufs*5 cLOF/cLOF 1 1 Italian
Suzuki et al. 2016 1YH2 2.I BBS14 c.5788A>T/c.5788A>T p.Lys1930*/p.Lys1930* cLOF/cLOF 1 0 1 1 0 1 Japanese
Azari et al. 2006 R59Q P3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 0 1 1 1 USA
Esposito et al. 2017 ZUWC P.15 BBS10 c.641T>A/c.641T>A p.Val214Glu/p.Val214Glu MS/MS 1 1 Italian
Suzuki et al. 2016 1YH2 2.II BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 0 0 1 1 0 1 Japanese
Azari et al. 2006 6SEB P4 BBS1 p.Met390Arg/p.Leu518Pro MS/MS F 10-19 19 1 1 USA
Esposito et al. 2017 QAAA P.8a BBS2 c.84delC/c.1059dupT p.Pro29Argfs*50/p.Asn354* cLOF/cLOF
[]
 1 1 1 Italian
Azari et al. 2006 C18M P5 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 20 1 1 USA
Esposito et al. 2017 EY9N P.9 BBS2 c.225T>G/c.225T>G p.Val75Gly/p.Val75Gly MS/MS 1 1 Italian
Azari et al. 2006 YPW2 P6 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30 1 1 USA
Azari et al. 2006 IZFY P9# BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 1 USA
Baker et al. 2010 NA NA BBS1 F 10-19 18 1 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 20-39 21 1 1 United Kingdom
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
Maria et al. 2016 AOD6 F01 IV:2 BBS3 c.534A>G/c.534A>G p.Gln178Gln (splice)/p.Gln178Gln (splice) cLOF/cLOF M 20-39 32 1 1 0 1 1 Pakistani