Items: 751 - 775 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
Maria et al. 2016 B9HM F02 IV:I BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 47 1 0 1 1 1 1 1 Pakistani
Maria et al. 2016 MOAU F03 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF F 10-19 15 1 0 1 0 1 0 1 1 Pakistani
M'hamdi et al. 2013 U5TO BBS-F13-A BBS5 c.149T>G/c.149T>G p.Leu50Arg/p.Leu50Arg MS/MS
[]
 F 10-19 11 1 1 1 1 0 0 Tunisian
Harville et al. 2010 H5B5 A2002-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 1 1 1 0 Pakistani
Harville et al. 2010 E9UF A2027-II1 BBS5 c.2T>A/c.2T>A p.Met1Lys/p.Met1Lys cLOF/cLOF 1 0 1 1 0 Pakistani
Braun et al. 2014 NA 9 BBS5 M 20-39 24 1 0 French
Braun et al. 2014 NA 10 BBS5 M 20-39 39 1 0 French
Sathya Priya et al. 2015 KIOI BBS-E BBS5 c.471G>A/c.471G>A p.Arg138His/p.Arg138His MS/MS 1 1 1 0 0 0 Indian
Katsanis et al. 2000 0DJ3 AR237 1 BBS6 p.Tyr37Cys/p.Tyr37Cys MS/MS 1 1 1 European/American
[]
Katsanis et al. 2000 L1JD AR301 BBS6 p.Tyr58Ala/p.Tyr58Ala MS/MS 1 1 1 0 European/American
Katsanis et al. 2000 SZVU NF-B1 1 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 SZVU NF-B1 2 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 Y5Z6 NF-B13 1 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 Y5Z6 NF-B13 2 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 GLPO NF-B3 1 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 GLPO NF-B3 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 0 1 Newfoundland
Katsanis et al. 2000 H6BV NF-B4 1 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 H6BV NF-B4 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
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
Katsanis et al. 2000 RAHD NF-B5 BBS6 p.Leu277Pro/p.Phe94fs*10 MS/cLOF 1 1 1 1 Newfoundland
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
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
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
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
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