Items: 601 - 625 from 899
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Source
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Azari et al. 2006 IZFY P10# BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 48 0 1 1 USA
Laurier et al. 2006 00OK D4 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 20-39 23 1 1 1 1 0 Lebanese
Azari et al. 2006 PUF2 P2 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 10-19 16 1 1 1 USA
Laurier et al. 2006 00OK D5 BBS2 p.Gly139Val/p.Gly139Val MS/MS F 10-19 18 1 1 1 1 0 Lebanese
Azari et al. 2006 R59Q P3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 0 1 1 1 USA
Leitch et al. 2008 I7QX BBS100-03 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
[]
 F 10-19 10 1 1 1 1 0 1 Middle Eastern
Azari et al. 2006 6SEB P4 BBS1 p.Met390Arg/p.Leu518Pro MS/MS F 10-19 19 1 1 USA
Leitch et al. 2008 I7QX BBS100-05 BBS1 p.Arg146*/p.Arg146* cLOF/cLOF
[]
 F 0-9 7 1 1 1 1 0 1 Middle Eastern
Ullah et al. 2017 AFA6 D V-1 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 Pakistani
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
Ullah et al. 2017 AFA6 D V-2 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF M 10-19 14 1 1 1 1 1 1 Pakistani
Azari et al. 2006 YPW2 P6 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 30 1 1 USA
Leitch et al. 2008 RXWS PB215-04 BBS13 p.Cys492Trp/p.Phe371del MS/MS M 0-9 2 0 1 1 0 0 0 Turkish
Ullah et al. 2017 8R4R E III-7 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF F 20-39 38 1 1 1 1 0 1 Pakistani
Ullah et al. 2017 8R4R E IV-3 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF M 10-19 17 1 1 1 1 1 1 Pakistani
Azari et al. 2006 GBVH P8¶ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 44 1 1 1 1 USA
Leitch et al. 2008 7AAP KK20-04 BBS9 c.2804G>A/c.2804G>A splice/splice cLOF/cLOF
[]
 M 0-9 5 1 1 1 1 1 1 0 1 Saudi Arabian
Ullah et al. 2017 8R4R E IV-4 BBS6 c.119C>G/c.119C>G p.Ser40*/p.Ser40* cLOF/cLOF M 10-19 15 1 1 1 1 1 1 Pakistani
Azari et al. 2006 IZFY P9# BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 1 USA
Ullah et al. 2017 2AEI A IV-3 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 20-39 21 1 1 1 1 1 0 Pakistani
Estrada-Cuzcano et al. 2012 (a) HQVO 13/F BBS1 p.Met390Arg/p.Arg268Pro MS/MS F 1 1 1 0 0 0 0 0 Netherland
Ullah et al. 2017 2AEI A IV-4 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 10-19 15 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 2AEI A IV-5 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 10-19 12 1 1 1 1 1 0 Pakistani
Lindstrand et al. 2014 O9YO DM012-003 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF
[]
 1 1 1 0 0 1 N. European
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