Items: 101 - 125 from 899
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Source
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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
Deveault et al. 2011 W8RW 45 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 25 1 1 1 0 1 1 1 English/Scottish/French/Canadian
Abu-Safieh et al. 2012 W27X BBS-F018-A BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF
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 1 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 W27X BBS-F018-B BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 W27X BBS-F018-C BBS3 c.480-1700_535+2392del/c.480-1700_535+2392del p.Cys160*/p.Cys160* cLOF/cLOF 1 1 1 0 0 0 0 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-1 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 25 1 0 0 0 0 0 0 0 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-2 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 30 1 0 0 0 0 0 0 0 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-3 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS F 20-39 27 1 0 0 0 0 0 0 0 Saudi Arabian
Abu Safieh et al. 2010 W01J KFSH-FD001-4 BBS3 c.266C>T/c.266C>T p.Ala89Val/p.Ala89Val MS/MS M 20-39 22 1 0 0 0 0 0 0 0 Saudi Arabian
Ullah et al. 2017 VYZR B IV-2 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 17 1 0 1 0 1 0 Pakistani
Ullah et al. 2017 VYZR B IV-4 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 16 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 VYZR B IV-7 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 10 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 VYZR B V-1 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 0-9 6 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
Abu-Safieh et al. 2012 VXBV BBS-F002-A BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 VXBV BBS-F002-B BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 VXBV BBS-F002-C BBS1 c.124+1G>A/c.124+1G>A p.Leu43Glyfs*44/p.Leu43Glyfs*44 cLOF/cLOF 1 1 1 1 1 0 0 0 Saudi Arabian
Castro-Sanchez et al. 2015 VS17 RP1193 (747) BBS1 p.Met390Arg/p.Arg146* MS/cLOF M 20-39 34 1 1 0 1 0 Spanish
Davies et al. 2018 VQKL BBS007 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 40-49 1 1 1 1 0 1 0 White European
Leitch et al. 2008 VPTU L398-03 BBS10 p.Ser73fs*19/p.Ser73fs*19 cLOF/cLOF
[]
 M 0-9 9 1 1 1 1 1 0 1 Lebanese
Fattahi et al. 2014 VO8X 34754 BBS2 c.1003C>T/c.1003C>T p.Gln335*/p.Gln335* cLOF/cLOF 1 1 1 1 1 Iranian
Hjortshoj et al. 2010 VNHI P41 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS
[]
 M 0-9 7 1 1 1 1 1 1 1 Scandinavian
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
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