Items: 676 - 700 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-11-16 BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF 1 1 1 1 Saudi Arabian
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
Shaheen et al. 2016 NBM7 F-13-19 BBS4 r.118_261del/r.118_373del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
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
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
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
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
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
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
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
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
Shaheen et al. 2016 U9IZ F-64-120 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 R1VC F-66-123 BBS4 c.77_156del/c.77_156del p.Ala26Glyfs*15/p.Ala26Glyfs*15 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 GQ1Q F-74-136 BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 D0IN F-77-139 BBS4 c.172C>T/c.172C>T p.Gln58*/p.Gln58* cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 LEPV BBS-arRP-F026-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
[]
 1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LEPV BBS-arRP-F026-B BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
[]
 1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LEPV BBS-arRP-F026-C BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
[]
 1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LEPV BBS-arRP-F026-D BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
[]
 1 1 1 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 Q9A6 BBS-F005-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 1 0 1 0 Saudi Arabian
Abu-Safieh et al. 2012 Q9A6 BBS-F005-B BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF 1 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 H25T BBS-F013-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
[]
 1 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 PQKI BBS-F017-A BBS4 c.157-2A>G/c.157-2A>G p.Ala53Hisfs*2/p.Ala53Hisfs*2 cLOF/cLOF
[]
 1 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 A60R BBS-F031-A BBS4 c.1180C>T/c.1180C>T p.Gln394*/p.Gln394* cLOF/cLOF
[]
 1 1 1 1 0 0 0 0 Saudi Arabian