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TOM
Add. mut.
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Notes
van Huet et al. 2013 KOTG B-V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 40+ 41 1 0 1 0 0 0 NA
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
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
Bennouna-Greene et al. 2011 NX9Z 01.02.03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 53 1 1 0 French
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
Bennouna-Greene et al. 2011 GIZN 01.03.04 BBS1 p.Met390Arg/p.Glu384* MS/cLOF F 20-39 28 1 1 0 French
Lindstrand et al. 2016 MJ9E AR400-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF F 10-19 11 1 1 1 1 1 NA
van Huet et al. 2013 DRB7 D-IV:1 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 20-39 38 1 0 0 0 0 0 NA
van Huet et al. 2013 DRB7 D-IV:3 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 40+ 43 1 0 0 0 0 0 NA
van Huet et al. 2013 DRB7 D-IV:4 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 40+ 40 1 0 0 0 0 0 NA
Lindstrand et al. 2016 1WD9 AR634-03 BBS7 deletion of exons 16-17/p.Gln293Pro cLOF/MS F 10-19 17 1 1 0 1 0 1 NA
Bennouna-Greene et al. 2011 2KMJ 06.02.05 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 21 1 0 0 French
Maria et al. 2016 M2A5 F05 V:4 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS F 20-39 25 1 1 0 1 0 Pakistani
White et al. 2006 TGDP Patient D BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF F 0-9 6 1 1 1 1 1 0 0 1 Omani
Yamamura et al. 2017 V9I3 patient 1 BBS16 c.845_848delTTTG/c.845_848delTTTG fs/fs cLOF/cLOF F 0-9 3 1 0 0 1 1 Japanese
Yamamura et al. 2017 QFG2 patient 2 BBS6 c.986-1G>A/c.986-1G>A splice/splice cLOF/cLOF F 20-39 27 1 1 1 1 1 1 0 Japanese
Bennouna-Greene et al. 2011 OURF 04.02.02 BBS10 p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF F 10-19 16 1 0 French
Maria et al. 2016 MOAU F03 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF F 10-19 15 1 0 1 0 1 0 1 1 Pakistani
Fedick et al. 2013 2S6X 2 BBS2 c.311A>C/c.311A>C p.Asp104Ala/p.Asp104Ala MS/MS F 1 1 Ashkenazi Jewish
M'hamdi et al. 2013 VK14 BBS-F01-A BBS1 c.1473+4A>G/c.1473+4A>G splice/splice cLOF/cLOF F 0-9 5 1 1 1 0 1 0 Tunisian
Young et al. 1998 VNDY 15 BBS3 F 40+ 54 1 1 1 Newfoundland
M'hamdi et al. 2013 QUPE BBS-F09-A BBS1 c.1110G>A/c.1110G>A splice/splice cLOF/cLOF F 20-39 21 1 1 0 1 0 0 Tunisian
M'hamdi et al. 2013 QUPE BBS-F09-B BBS1 c.1110G>A/c.1110G>A splice/splice cLOF/cLOF F 20-39 29 1 1 1 0 0 0 Tunisian
M'hamdi et al. 2013 H2VL BBS-F11-A BBS1 c.448C>T/c.448C>T p.Arg146*/p.Arg146* cLOF/cLOF F 20-39 32 1 1 0 1 1 Tunisian
Young et al. 1998 VNDY 24 BBS3 F 20-39 22 1 1 1 0 1 1 Newfoundland