Items: 876 - 899 from 899
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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
Katsanis et al. 2001 Z6T8 PB020² BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF 1 1 1 1 European/American
Castro-Sanchez et al. 2015 ZA2M RP916 (1072) BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 57 1 1 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 ZA2M RP916 (1339) BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 32 1 1 1 1 0 Spanish
Shaheen et al. 2016 ZE22 F-8-13 BBS5 c.1A>T/c.1A>T start codon defect/start codon defect cLOF/cLOF 1 1 1 Saudi Arabian
Lindstrand et al. 2016 ZFQ9 AR800-03 BBS4 deletion of exons 5-6/deletion of exons 5-6 cLOF/cLOF M 0-9 5 1 1 1 1 1 NA
Lindstrand et al. 2016 ZFSG KK11-04 BBS3 deletion of exons 4-9/deletion of exons 4-9 cLOF/cLOF M 10-19 17 1 1 1 1 1 Saudi Arabian
Katsanis et al. 2001 ZH2A AR241\ BBS2 p.Arg315Gln/p.Arg315Gln MS/MS
[]
 1 1 1 1 0 European/American
Janssen et al. 2011 ZIWZ AR880 (A2881) -4 BBS10 c.271_272insT/c.271_272insT p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF 1 1 1 0 0 N. European
Shaheen et al. 2016 ZKT1 F-209 293 BBS20 c.4630C>T/c.4630C>T p.Arg1544Cys/p.Arg1544Cys MS/MS 1 1 Saudi Arabian
Abu-Safieh et al. 2012 ZLPD BBS-F019-A BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
[]
 1 1 1 1 1 1 0 Saudi Arabian
Abu-Safieh et al. 2012 ZLPD BBS-F019-B BBS6 c.871G>T/c.871G>T p.Val291Phe/p.Val291Phe MS/MS
[]
 1 1 1 1 1 1 0 Saudi Arabian
Deveault et al. 2011 ZLSP 9 BBS2 p.Asp104Ala/p.Arg632Pro MS/MS
[]
 M 20-39 30 1 1 1 0 0 1 1 Russian
Shaheen et al. 2016 ZN58 F-42-67 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-68 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-69 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-70 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 ZN58 F-42-71 BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS 1 1 1 1 Saudi Arabian
Sathya Priya et al. 2015 ZPP2 BBS-G BBS1 c.1340-2A>G/c.1340-2A>G splice/splice cLOF/cLOF 1 1 1 0 0 0 Indian
Deveault et al. 2011 ZR8V 19 BBS1 p.Met390Arg/p.Asn524del MS/MS
[]
 M 20-39 24 1 1 0 0 1 1 1 English
Kerr et al. 2015 ZRXG 13 BBS2 p.Tyr24*/p.Arg703* cLOF/cLOF F 20-39 28 1 1 1 1! 0 1 Polish
[]
Schaefer et al. 2011(b) ZT7M VII.26 BBS10 c.145C>T/c.145C>T p.Arg49Trp/p.Arg49Trp MS/MS F 1 1 1 1 1 French
Suzuki et al. 2016 ZTJ4 13 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Esposito et al. 2017 ZUWC P.15 BBS10 c.641T>A/c.641T>A p.Val214Glu/p.Val214Glu MS/MS 1 1 Italian
Bujakowska et al. 2015 ZUX3 Family 3, II.2 BBS20 c.770T>C/c.3112-5T>A p.Leu257Pro/splice MS/cLOF 20-39 38 1 0 0 White European