Items: 851 - 875 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
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Ethnicity
Notes
Fan et al. 2004 GC3Y PID 22 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 42 1 1 0 0 Newfoundland
Fan et al. 2004 GC3Y PID 9 BBS1 c.1179T>G/c.1179T>G p.Met390Arg/p.Met390Arg MS/MS
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 F 40+ 62 1 1 0 1 1 Newfoundland
Cox et al. 2012 AZ4J PT1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 27 1 1 1 1 0 1 USA
Cox et al. 2012 D2VE PT2 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 1 1 0 0 0 USA
Cox et al. 2012 PZDS PT3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 0 0 0 USA
Lindstrand et al. 2014 XFT0 RC1-03 BBS10 c.926T>C/c.9_14delTTCTAT p.Leu309Pro/p.Ser3_Met5delinsArg MS/MS
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 1 1 1 1 0 1 Latino
Lindstrand et al. 2016 I6N5 RC2-03 BBS2 c.367A>G/c.367A>G p.Ile123Val/p.Ile123Val MS/MS
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 M 0-9 6 1 0 1 1 1 1 Latino
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Castro-Sanchez et al. 2015 U7OU RP1011 (1184)§ BBS12 p.Gly540Asp/p.Gly540Asp MS/MS F 40+ 40 1 1 1 1 0 1 Spanish
Pereiro et al. 2010 CA0L RP1011 II.1 BBS12 p.Gly540Asp/p.Gly540Asp MS/MS 1 1 1 1 1 Caucasian
Castro-Sanchez et al. 2015 CK6O RP1032 (32)¶ BBS10 p.Gln284*/p.Gln284* cLOF/cLOF F 10-19 15 1 1 1 Spanish
Castro-Sanchez et al. 2015 IRUP RP1054 (249)§ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 29 1 0 1 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 RJRD RP1172 (1416) BBS10 p.Cys91fs*4/p.Glu337del cLOF/MS M 10-19 13 1 0 1 1 1 0 Spanish
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
Castro-Sanchez et al. 2015 CXPA RP1322 (1168) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 47 1 0 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 CXPA RP1322 (1169) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 43 1 0 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 U1ZZ RP1378 (24)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF F 20-39 34 1 1 0 0 0 Spanish
Castro-Sanchez et al. 2015 U1ZZ RP1378 (858)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF M 40+ 41 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 40IX RP1568 (502) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 54 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 40IX RP1568 (504) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 50 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 RCBI RP1731 (I) BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 19 1 1 1 0 0 0 Spanish
Castro-Sanchez et al. 2015 BV7K RP294 (4352)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 38 1 1 1 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 BV7K RP294 (4707)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 31 1 1 1 1 0 0 0 Spanish
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
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