Items: 601 - 625 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
CI
REP
REN
HRT
LIV
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Notes
Shaheen et al. 2016 CNZJ F-73-135 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 Y63A BBS-F032-A BBS13 Exon1loss/ loss of exon 1/loss of exon 1 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 307E F-75-137 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 H4C9 BBS-F024-A BBS2 c.1207C>T/c.1207C>T p.Arg403Cys/p.Arg403Cys MS/MS 1 1 1 1 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 ZE22 F-8-13 BBS5 c.1A>T/c.1A>T start codon defect/start codon defect cLOF/cLOF 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-A BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
[]
 1 1 1 0 0 0 0 0 Saudi Arabian
Shaheen et al. 2016 D9R5 F-28-48 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-B BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
Shaheen et al. 2016 D9R5 F-28-49 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-C BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 0 0 0 0 0 1 Saudi Arabian
Shaheen et al. 2016 D9R5 F-28-50 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-D BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS
[]
 1 1 1 0 0 0 0 Saudi Arabian
Shaheen et al. 2016 3TCL F-29-51 BBS6 c.830T>C/c.830T>C p.Leu277Pro/p.Leu277Pro MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 8HPX BBS-F003-E BBS3 c.431C>T/c.431C>T p.Ser144Phe/p.Ser144Phe MS/MS 1 1 1 0 0 0 0 Saudi Arabian
Shaheen et al. 2016 3TCL F-29-52 BBS6 c.830T>C/c.830T>C p.Leu277Pro/p.Leu277Pro MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-A BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 3TCL F-29-53 BBS6 c.830T>C/c.830T>C p.Leu277Pro/p.Leu277Pro MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-B BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 0 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-67 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-C BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-68 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-D BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-69 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 Saudi Arabian
Abu-Safieh et al. 2012 L4G5 BBS-F004-E BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-70 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian