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Add. mut.
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Notes
Abu-Safieh et al. 2012 Z3OQ BBS-F015-A BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 0 0 0 0 0 0 Saudi Arabian
Kerr et al. 2015 Q5T5 21 BBS21 p.Lys102*/p.Lys102* cLOF/cLOF F 10-19 16 1 1 0 0 Canadian
Schaefer et al. 2011(a) KHCD II.22.21 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF M 10-19 19 1 1 0 1 1 1 French
Schaefer et al. 2011(a) KHCD II.22.22 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF F 10-19 15 1 1 0 1 1 1 French
Abu-Safieh et al. 2012 Z3OQ BBS-F015-C BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 0 0 0 0 0 0 Saudi Arabian
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
Ajmal et al. 2013 8PK6 Family A IV:5 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF M 1 1 0 1 0 0 0 0 1 Pakistani
Khan et al. 2013 ITYJ B IV-2 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF F 20-39 37 1 1 0 1 0 0 0 Pakistani
Alazami et al. 2012 UKL9 JS_F11 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF F 1 0 1 0 0 1 Saudi Arabian
Schaefer et al. 2016 JSX2 IV.3 BBS20 c.4428+3A>G/c.4428+3A>G p.Tyr1439_Asn1477del/p.Tyr1439_Asn1477del cLOF/cLOF M 10-19 18 1 1 0 1 0 0 1 Melanesian
Alazami et al. 2012 QH09 JS_F3 BBS14 c.4714G>T/c.4714G>T p.Glu1572*/p.Glu1572* cLOF/cLOF F 0 1 1 0 1 Saudi Arabian
Scheidecker et al. 2013 SQF2 BBS18 c.173T>G/c.173T>G p.Leu58*/p.Leu58* cLOF/cLOF M 40+ 49 1 1 0 1 0 1 0 Italian
Aldahmesh et al. 2014 UUT5 BBS_DG1a BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS F 1 1 0 1 1 1 Saudi Arabian
Ece Solmaz et al. 2015 O9MY 7 BBS10 c.1024_1025insA/c.1024_1025insA p.Ile342Asnfs*20/p.Ile342Asnfs*20 cLOF/cLOF 10-19 15 1 1 0 1 1 0 0 0 1 Turkish
Aldahmesh et al. 2014 TUBP BBS_DG5d BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 0 1 0 1 0 1 Saudi Arabian
Ece Solmaz et al. 2015 AYQT 6 BBS4 c.406-2A>G/c.406-2A>G splice/splice cLOF/cLOF 0-9 8 1 1 0 1 0 0 0 0 1 Turkish
Ece Solmaz et al. 2015 3AJL 11 BBS7 c.949C>G/c.949C>G p.Leu317Val/p.Leu317Val MS/MS 10-19 19 1 1 0 1 0 1 0 1 1 Turkish
Suzuki et al. 2016 UFCD 19 BBS1 c.1139G>A/c.1139G>A p.Arg380Gln/p.Arg380Gln MS/MS 1 0 1 0 0 1 Omani
Suzuki et al. 2016 WMKD 4 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Suzuki et al. 2016 DZJM 5 BBS14 c.214G>T/c.6012-12T>A p.Glu72*/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
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
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
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
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
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
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