Items: 326 - 350 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
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
Baker et al. 2010 NA NA BBS1 F 10-19 17 0 1 0 1 United Kingdom
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
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 (b) 0JE6 V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 10-19 17 1 1 Netherland
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 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
Lindstrand et al. 2016 ZFSG KK11-04 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 17 1 1 1 1 1 Saudi Arabian
Lindstrand et al. 2016 MJ9E AR400-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF F 10-19 11 1 1 1 1 1 NA
Bennouna-Greene et al. 2011 I8TW 01.07.15 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 18 0 1 0 French
Lindstrand et al. 2016 1WD9 AR634-03 BBS7 deletion of exons 16-17/p.Gln293Pro cLOF/MS F 10-19 17 1 1 0 1 0 1 NA
Lindstrand et al. 2016 1WD9 AR634-04 BBS7 deletion of exons 16-17/p.Gln293Pro cLOF/MS M 10-19 15 1 1 0 1 1 NA
White et al. 2006 TGDP Patient B BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 10-19 13 1 1 0 1 1 0 0 1 Omani
Bennouna-Greene et al. 2011 2KMJ 06.02.04 BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 10-19 19 1 1 0 French
Bennouna-Greene et al. 2011 K7Y0 1.4.c BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 1 0 0 French
Bennouna-Greene et al. 2011 2FSK 04.01.01 BBS10 p.Arg49Trp/p.Leu414Ser MS/MS M 10-19 19 1 0 0 French
Bennouna-Greene et al. 2011 OURF 04.02.02 BBS10 p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF F 10-19 16 1 0 French
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
Maria et al. 2016 AHHU F04 IV:2 BBS9 c.1789C>T/c.1789C>T p.Gln597*/p.Gln597* cLOF/cLOF M 10-19 15 1 1 1 1 1 1 1 Pakistani
Yoon et al. 2014 J447 case BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 10-19 17,5 1 1 1 1 1 0 Korean
Marion et al. 2012 CPKG BBE93 BBS17 c.402-406d/c.402-406d p.Pro136Thrfs*/p.Pro136Thrfs* cLOF/cLOF M 10-19 10 1 1 1 1 1 1 0 0 1 Algerian
Bennouna-Greene et al. 2011 9SFS 1.13.22 BBS12 p.Tyr257fs*10/p.Tyr257fs*10 cLOF/cLOF M 10-19 19 1 1 1 French
Bennouna-Greene et al. 2011 GRKW 01.08.12 BBS9 p.Arg278*/deletion of exon 9 cLOF/cLOF M 10-19 17 1 1 0 French