Items: 376 - 400 from 899
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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
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
Pereiro et al. 2010 0KMP M446 II.1 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 0 0 Caucasian
Pereiro et al. 2010 0KMP M446 II.2 BBS3 p.Gly2*/p.Gly2* cLOF/cLOF 1 1 1 0 Caucasian
Esposito et al. 2017 SC5U P.1 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
Esposito et al. 2017 3JWE P.2 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
Pereiro et al. 2010 M9QZ M79 II.2 BBS6 p.Gly250Arg/p.Gly250Arg MS/MS 1 1 1 1 Caucasian
Sathya Priya et al. 2015 DT0L BBS-B BBS6 c.748G>A/c.748G>A p.Gly250Arg/p.Gly250Arg MS/MS 1 0 1 1 0 1 Indian
Castro-Sanchez et al. 2015 POGM M79 (1608)§ BBS6 p.Gly250Arg/p.Gly250Arg MS/MS F 20-39 36 1 1 1 1 1 1 0 Spanish
Kamme et al. 2016 L4YK II-1 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS M 10-19 12 1 1 0 Swedish
Kamme et al. 2016 L4YK II-2 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS F 20-39 28 1 1 0 1 Swedish
Fattahi et al. 2014 65UG 34881 BBS4 c.829G>A/c.829G>A p.Gly277Arg/p.Gly277Arg MS/MS 1 1 1 1 0 Iranian
Janssen et al. 2011 DRZF A1155 0 BBS2 c.947G>A/c.947G>A p.Gly316Asp/p.Gly316Asp MS/MS 0 1 0 1 1 N. European
Abu-Safieh et al. 2012 N2IG BBS-F006-A BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF
[]
 1 1 0 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 N2IG BBS-F006-B BBS1 c.1110+329C>T/c.1110+329C>T p.Gly318Valfs*36/p.Gly318Valfs*36 cLOF/cLOF 1 1 0 1 1 0 0 0 Saudi Arabian
Shaheen et al. 2016 YTIO F-23-37 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 YTIO F-23-38 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-81 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-82 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-83 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-84 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 0 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-85 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 5M4H F-48-86 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 WQ0L F-67-124 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 LNEN BBS-F010-A BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 0 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LNEN BBS-F010-B BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 0 1 0 0 0 0 Saudi Arabian