Items: 526 - 550 from 899
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
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
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
Janssen et al. 2011 RRH7 AR850 (A2878) -4 BBS2 c.72C>G/c.504delG p.Tyr24*/p.Leu168fs*33 cLOF/cLOF
[]
1 1 1 1 1 N. European
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
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
Janssen et al. 2011 RGZ9 AR847 (A2877) -3 BBS9 c.2390_2393delAACA/c.2521_2522insAG p.Lys628fs*22/p.Ala672fs*219 cLOF/cLOF 1 1 0 1 1 N. European
Janssen et al. 2011 RGZ9 AR847 (A2877)-4 BBS9 c.2390_2393delAACA/c.2521_2522insAG p.Lys628fs*22/p.Ala672fs*219 cLOF/cLOF 1 1 1 0 1 1 N. European
Janssen et al. 2011 1PLE PB233 (A2013) 0 BBS9 c.1556T>G/c.1556T>G p.Leu350Arg/p.Leu350Arg MS/MS 1 1 1 1 1 Turkish
Janssen et al. 2011 1PLE PB2330 BBS9 c.1556T>G/c.1556T>G p.Leu350Arg/p.Leu350Arg MS/MS 1 1 Turkish
Kamme et al. 2016 L4YK II-1 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS M 10-19 12 1 1 0 Swedish
Kamme et al. 2016 L4YK II-2 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS F 20-39 28 1 1 0 1 Swedish
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
Katsanis et al. 2000 RAHD NF-B5 BBS6 p.Leu277Pro/p.Phe94fs*10 MS/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2001 QDX9 AR029² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 1 1 European/American
Katsanis et al. 2001 4RJW AR171² BBS2 p.Asp104Ala/p.Arg634Pro MS/MS 1 1 1 0 0 European/American
Katsanis et al. 2001 ZH2A AR241\ BBS2 p.Arg315Gln/p.Arg315Gln MS/MS
[]
1 1 1 1 0 European/American