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
Chaki et al. 2011 FMNC A1188-21 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 0 1 1 0 NA
Chaki et al. 2011 TMOJ F394-27 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 1 1 0 NA
Chaki et al. 2011 KYJJ F700-24 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 1 1 0 NA
Chaki et al. 2011 KYJJ F700-26 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 1 1 0 NA
Chaki et al. 2011 Y3MD F944-31 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 Y3MD F944-32 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 0 1 0 NA
Shaheen et al. 2016 P78N F-162 233 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 OPSI F-179 254 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 M87Y F-198 281 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Janssen et al. 2011 RZU9 F523 0 BBS10 c.539G>A/c.539G>A p.Gly180Glu/p.Gly180Glu MS/MS 1 N. European
Shaheen et al. 2016 3MZE F-2-2 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Shaheen et al. 2016 3MZE F-2-3 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Deveault et al. 2011 81EN 71 BBS8 p.Gly162fs*4/p.Ile334fs*1 cLOF/cLOF M 40+ 44 1 1 1 1 1! 1 1 1 Mexican
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Abu-Safieh et al. 2012 Z3OQ BBS-F015-A BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 0 0 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 Z3OQ BBS-F015-B BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 Z3OQ BBS-F015-C BBS9 c.(443-1675_443-1116)_(618-986_618-508)del/c.(443-1675_443-1116)_(618-986_618-508)del p.Gly148_Val234del/p.Gly148_Val234del cLOF/cLOF 1 0 0 0 0 0 0 Saudi Arabian
Laurier et al. 2006 00OK D4 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 20-39 23 1 1 1 1 0 Lebanese
Laurier et al. 2006 00OK D5 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 10-19 18 1 1 1 1 0 Lebanese
Suzuki et al. 2016 DZJM 5 BBS14 c.214G>T/c.6012-12T>A p.Glu72*/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Harville et al. 2010 6FMK A2889-II1 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 0 Israel Arab
Harville et al. 2010 6FMK A2889-II2 (A80533/4) BBS7 c.1786G>A/c.1786G>A p.Glu596Lys/p.Glu596Lys MS/MS 1 1 1 1 1 Israel Arab
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
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M 0-9 4 1 1 1 1 1 1 Latino
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Harville et al. 2010 LVPF A2017-II1 BBS12 c.1483_1484delGA/c.1483_1484delGA p.Glu495fs*4/p.Glu495fs*4 cLOF/cLOF 1 1 1 0 0 Turkish
Otto et al. 2010 IDME SS23/A1365_21 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Otto et al. 2010 IDME SS23/A1365_22 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion