Items: 876 - 899 from 899
CSV export Reset filters
Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Shaheen et al. 2016 6TP3 F-22-35 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 6TP3 F-22-36 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Shaheen et al. 2016 TFZC F-9-14 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 Saudi Arabian
Shaheen et al. 2016 0OE4 F-109 175 BBS13 c.1126dupA/c.1126dupA p.Thr376Asnfs*3/p.Thr376Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 RPFV F-130 196 BBS13 c.1066C>T/c.1066C>T p.Gln356*/p.Gln356* cLOF/cLOF 1 1 Saudi Arabian
Innes et al. 2010 HFPV P3 BBS2 c.472-2A>G/c.472-2A>G splice/splice cLOF/cLOF M 0-9 6 1 1 1 Hutterite
Shaheen et al. 2016 A73A F-92 156 BBS13 c.1126dupA/c.1126dupA p.Thr376Asnfs*3/p.Thr376Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 AYAU F-122 188 BBS14 c.3190del/c.3190del p.Met1064*/p.Met1064* cLOF/cLOF 1 Saudi Arabian
Shaheen et al. 2016 42YK F-155 223 BBS14 c.4714G>T/c.4714G>T p.Glu1572*/p.Glu1572* cLOF/cLOF 1 0 1 Saudi Arabian
Shaheen et al. 2016 P78N F-162 233 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Janssen et al. 2011 YNNI AR603 (A2858)-5 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 1 N. European
Shaheen et al. 2016 E36R F-171 244 BBS14 c.5824C>T/c.5824C>T p.Gln1942*/p.Gln1942* cLOF/cLOF 1 1 Saudi Arabian
Cox et al. 2012 AZ4J PT1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 27 1 1 1 1 0 1 USA
Shaheen et al. 2016 0YU0 F-172 245 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 1 Saudi Arabian
Cox et al. 2012 D2VE PT2 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 1 1 0 0 0 USA
Shaheen et al. 2016 0YU0 F-172 246 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 Saudi Arabian
Cox et al. 2012 PZDS PT3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 0 0 0 USA
Shaheen et al. 2016 OPSI F-179 254 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 INH9 F-192 275 BBS14 c.4811G>A/c.4811G>A p.Trp1604*/p.Trp1604* cLOF/cLOF 1 0 1 Saudi Arabian
Shaheen et al. 2016 M87Y F-198 281 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 XJQC F-27-46 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 XJQC F-27-47 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 FIFS F-1-1 BBS2 c.700C>T/c.700C>T p.Arg234*/p.Arg234* cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 7GBT F-15-21 BBS2 c.1015C>T/c.1015C>T p.Arg339*/p.Arg339* cLOF/cLOF 1 1 1 Saudi Arabian