Items: 26 - 50 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
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Notes
Shaheen et al. 2016 GWM7 F-11-17 BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF 1 1 1 1 Saudi Arabian
Deveault et al. 2011 2YSJ 1 BBS1 p.Arg160Gln/p.Arg160Gln MS/MS F 20-39 30 1 1 1 0 0 0 Swiss
Janssen et al. 2011 NZSY A3436 0 BBS2 c.940delA/c.IVS6+2 p.Ile314fs*11/splice cLOF/cLOF 0 1 1 1 Turkey
Shaheen et al. 2016 NBM7 F-13-19 BBS4 r.118_261del/r.118_373del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Janssen et al. 2011 F9UG AR124 (A2832) -3 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Shaheen et al. 2016 02YS F-33-57 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 0 Saudi Arabian
Janssen et al. 2011 F9UG AR124 (A2832)-4 BBS2 c.IVS3-1delG/c.1371delG p.Val158fs*43/p.Leu457fs*30 cLOF/cLOF 1 1 1 0 1 1 N. European
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Shaheen et al. 2016 87BS F-3-4 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 Saudi Arabian
Janssen et al. 2011 WN8I AR724 (A2866) -5 BBS2 c.175C>T/c.72C>G p.Gln59*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 N. European
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Shaheen et al. 2016 KV8M F-34-58 BBS4 c.1226delG/c.1226delG p.Ser409Thrfs*60/p.Ser409Thrfs*60 cLOF/cLOF 1 1 1 Saudi Arabian
Janssen et al. 2011 CAEM AR839 (A2874) -4 BBS2 c.1438C>T/c.1237C>T p.Arg480*/p.Arg413* cLOF/cLOF 1 1 1 0 0 1 1 N. European
Shaheen et al. 2016 CYGK F-39-63 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 Saudi Arabian
Deveault et al. 2011 1R6I 39 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 25 1 1 1 0 0 0 1 English/Irish
Janssen et al. 2011 RRH7 AR850 (A2878) -3 BBS2 c.72C>G/c.504delG p.Tyr24*/p.Leu168fs*33 cLOF/cLOF 1 1 1 1 1 1 N. European
Shaheen et al. 2016 KRWX F-40-64 BBS4 c.77_156del/c.77_156del p.Ala26Glyfs*15/p.Ala26Glyfs*15 cLOF/cLOF 1 1 1 0 Saudi Arabian
Deveault et al. 2011 QJBM 139 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 0 1 1 0 1 Nicaraguan
Janssen et al. 2011 4PPS KK44 (A2884) -8 BBS4 c.IVS3-2A>G/c.IVS3-2A>G splice/splice cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 KRWX F-40-65 BBS4 c.77_156del/c.77_156del p.Ala26Glyfs*15/p.Ala26Glyfs*15 cLOF/cLOF 1 1 1 Saudi Arabian
Janssen et al. 2011 RRH7 AR850 (A2878) -4 BBS2 c.72C>G/c.504delG p.Tyr24*/p.Leu168fs*33 cLOF/cLOF
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 1 1 1 1 1 N. European
Shaheen et al. 2016 NVC9 F-5-6 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 1 1 1 Saudi Arabian
Deveault et al. 2011 W8RW 45 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 25 1 1 1 0 1 1 1 English/Scottish/French/Canadian
Janssen et al. 2011 BYVF AR14 (A2824) -4 BBS7 c.878A>C/c.878A>C p.Gln293Pro/p.Gln293Pro MS/MS 1 1 1 1 1 1 N. European
Shaheen et al. 2016 NVC9 F-5-7 BBS4 c.1091C>A/c.1091C>A p.Ala364Glu/p.Ala364Glu MS/MS 1 1 0 1 1 Saudi Arabian
Deveault et al. 2011 J17C 75 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 1 1 1 NA
Janssen et al. 2011 BYVF AR14 (A2824)-8 BBS7 c.878A>C/c.878A>C p.Gln293Pro/p.Gln293Pro MS/MS 1 1 1 1 1 1 N. European