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
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
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
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
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
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
van Huet et al. 2013 F1AK C-II:2 BBS21 c.529C>T/c.529C>T p.Arg177Trp/p.Arg177Trp MS/MS M 20-39 30 1 0 0 0 0 0 NA
van Huet et al. 2013 DRB7 D-IV:1 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 20-39 38 1 0 0 0 0 0 NA
van Huet et al. 2013 DRB7 D-IV:3 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 40+ 43 1 0 0 0 0 0 NA
van Huet et al. 2013 DRB7 D-IV:4 BBS21 c.545A>G/c.545A>G p.Gln182Arg/p.Gln182Arg MS/MS F 40+ 40 1 0 0 0 0 0 NA
White et al. 2006 TGDP Patient A BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 20-39 24 1 1 1 1 1 0 0 1 Omani
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
White et al. 2006 TGDP Patient C BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 Omani
White et al. 2006 TGDP Patient D BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF F 0-9 6 1 1 1 1 1 0 0 1 Omani
Yamamura et al. 2017 V9I3 patient 1 BBS16 c.845_848delTTTG/c.845_848delTTTG fs/fs cLOF/cLOF F 0-9 3 1 0 0 1 1 Japanese
Yamamura et al. 2017 QFG2 patient 2 BBS6 c.986-1G>A/c.986-1G>A splice/splice cLOF/cLOF F 20-39 27 1 1 1 1 1 1 0 Japanese
Yang et al. 2008 TD84 IV:2 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 37 1 1 1 1 1 1 1 Chinese
Yang et al. 2008 TD84 IV:4 BBS7 c.1666A>G/c.1666A>G p.Ser556Arg/p.Ser556Arg MS/MS M 20-39 32 1 1 1 1 1 1 1 Chinese
Yoon et al. 2014 J447 brother BBS10 c.235_236insA/c.530A>G p.Thr78Asnfs*17/p.Tyr177Cys cLOF/MS M 0-9 6,5 1 1 0 1 1 Korean
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
Young et al. 1998 VNDY 14 BBS3 M 40+ 51 1 0 1 0 1 Newfoundland
Young et al. 1998 VNDY 15 BBS3 F 40+ 54 1 1 1 Newfoundland
Young et al. 1998 VNDY 22 BBS3 M 20-39 36 1 1 1 0 Newfoundland
Young et al. 1998 VNDY 23 BBS3 M 20-39 31 1 1 0 Newfoundland
Young et al. 1998 VNDY 24 BBS3 F 20-39 22 1 1 1 0 1 1 Newfoundland