Items: 501 - 525 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
Lindstrand et al. 2016 LYAD AR246-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 M 10-19 12 1 1 1 1 1 0 1 NA
Ullah et al. 2017 D8UI C IV-1 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 13 1 1 1 1 1 0 Pakistani
Estrada-Cuzcano et al. 2012 (a) 1NLX 7/W BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 0 0 0 0 0 Italian
Lindstrand et al. 2016 272G AR380-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 0-9 9 1 1 1 1 0 0 NA
Ullah et al. 2017 D8UI C IV-2 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 12 1 1 1 1 1 Pakistani
Baker et al. 2010 NA NA BBS1 F 20-39 24 1 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (a) 4YDB 8/Mb BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 0 0 0 Belgian
Lindstrand et al. 2016 GW00 AR888-03 BBS1 c.1645G>T/deletion of exons 1-11 p.Glu549*/deletion of exons 1-11 cLOF/cLOF
[]
 M 0-9 4 1 1 1 1 1 1 Latino
[]
Ullah et al. 2017 D8UI C IV-6 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS F 10-19 10 1 1 1 1 0 Pakistani
Baker et al. 2010 NA NA BBS1 F 10-19 18 1 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (a) 5ZO2 9/F BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 1 0 0 0 0 German
Lindstrand et al. 2016 KOBZ AR883-04 BBS10 c.2119_2120delGT/c.2118_2119delTG p.Val707*/p.Val707fs* cLOF/cLOF
[]
 M 0-9 4 1 1 1 1 1 NA
van Huet et al. 2013 VXOY A-IV:1 BBS21 c.497T>A/c.497T>A p.Leu166*/p.Leu166* cLOF/cLOF M 20-39 37 1 0 0 0 0 0 NA
Baker et al. 2010 NA NA BBS1 F 20-39 21 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 10-19 17 1 1 Netherland
Lindstrand et al. 2016 C6Y3 KK047-05 BBS2 deletion of exons 8-15/deletion of exons 8-15 cLOF/cLOF M 0-9 9 1 1 1 1 1 NA
van Huet et al. 2013 KOTG B-V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 40+ 41 1 0 1 0 0 0 NA
Baker et al. 2010 NA NA BBS1 M 20-39 27 1 1 1 United Kingdom
Estrada-Cuzcano et al. 2012 (b) 0JE6 V:2 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 10-19 10 1 1 Netherland
Lindstrand et al. 2016 I6N5 RC2-03 BBS2 c.367A>G/c.367A>G p.Ile123Val/p.Ile123Val MS/MS
[]
 M 0-9 6 1 0 1 1 1 1 Latino
[]
van Huet et al. 2013 KOTG B-V:7 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 20-39 26 1 0 1 0 0 0 NA
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
Fan et al. 2004 GC3Y PID 22 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 42 1 1 0 0 Newfoundland
Lindstrand et al. 2016 FQTJ DM034-004 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 10 1 1 1 0 1 0 NA
van Huet et al. 2013 F1AK C-II:1 BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 20-39 36 1 0 0 0 0 0 NA