Items: 526 - 550 from 899
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Protein change
TOM
Add. mut.
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Notes
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
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 F 40+ 62 1 1 0 1 1 Newfoundland
Lindstrand et al. 2016 ZFSG KK11-04 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 17 1 1 1 1 1 Saudi Arabian
van Huet et al. 2013 F1AK C-II:2 BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 20-39 30 1 0 0 0 0 0 NA
Bennouna-Greene et al. 2011 GIZN 01.03.04 BBS1 p.Met390Arg/p.Glu384* MS/cLOF F 20-39 28 1 1 0 French
Fattahi et al. 2014 KQKK 35201 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 1 1 1 0 1 1 Iranian
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
Fattahi et al. 2014 GEMF 36000 BBS12 c.2019del/c.2019del p.Trp673Cysfs*7/p.Trp673Cysfs*7 cLOF/cLOF 1 1 1 0 1 0 Iranian
Lindstrand et al. 2016 ZFQ9 AR800-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF M 0-9 5 1 1 1 1 1 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
Lindstrand et al. 2016 2JO8 44/3 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
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 M 1 1 1 1 1 1 Israel
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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
Bennouna-Greene et al. 2011 TFG2 05.02.07 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 34 1 1 0 French
Fattahi et al. 2014 VO8X 34754 BBS2 c.1003C>T/c.1003C>T p.Gln335*/p.Gln335* cLOF/cLOF 1 1 1 1 1 Iranian
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
White et al. 2006 TGDP Patient A BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 20-39 24 1 1 1 1 1 0 0 1 Omani
Bennouna-Greene et al. 2011 Q3SV 06.01.01 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 33 1 0 0 French
Fattahi et al. 2014 2X8V 34885 BBS2 c.471G>C/c.471G>C p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF 1 1 1 1 0 Iranian
Lindstrand et al. 2016 1WD9 AR634-04 BBS7 deletion of exons 16-17/p.Gln293Pro cLOF/MS M 10-19 15 1 1 0 1 1 NA
White et al. 2006 TGDP Patient B BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 10-19 13 1 1 0 1 1 0 0 1 Omani
Bennouna-Greene et al. 2011 2KMJ 06.02.04 BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 10-19 19 1 1 0 French
Maria et al. 2016 M2A5 F05 V:2 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS M 20-39 20 1 1 0 1 1 0 Pakistani
White et al. 2006 TGDP Patient C BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 Omani
Bennouna-Greene et al. 2011 2KMJ 06.02.05 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 21 1 0 0 French