Items: 676 - 700 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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Notes
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 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
Castro-Sanchez et al. 2015 1E9W B182 (910) BBS10 p.Val331Ala/p.Leu533Leufs*21 MS/cLOF M 40+ 48 1 1 1 1 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 ORRW GBB1 (100) BBS10 p.Tyr559fs*17/p.Tyr559fs*17 cLOF/cLOF F 20-39 33 1 1 1 1 1 1 Spanish
Castro-Sanchez et al. 2015 DJNC GBB16 (3775)‡ BBS10 p.Cys91fs*4/p.Tyr503fs*17 cLOF/cLOF M 0-9 9 1 1 1 1 1 1 0 1 Spanish
Castro-Sanchez et al. 2015 DJNC GBB16 (4038)‡ BBS10 p.Cys91fs*4/p.Tyr503fs*17 cLOF/cLOF M 0-9 7 1 1 1 1 1 1 Spanish
Castro-Sanchez et al. 2015 E7CP GBB19 (I) BBS10 p.Cys91fs*4/p.Leu414Ser cLOF/MS M 20-39 20 1 1 1 0 0 Spanish
Castro-Sanchez et al. 2015 9WGR GBB2 (102) BBS10 p.Tyr559fs*17/p.Tyr559fs*17 cLOF/cLOF M 40+ 46 1 1 1 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 IJVR GBB36 (I) BBS10 p.Val331Ala/p.Val331Ala MS/MS M 40+ 45 1 1 1 0 1 1 0 Spanish
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 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 4SJL 81 BBS12 p.Leu88Arg/p.Asn461Lysfs*10 MS/cLOF F 10-19 14 1 1 1 0 1 1 0 1 1! Spanish
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Castro-Sanchez et al. 2015 NKMZ 164 BBS12 p.Gly539Asp/p.Pro632Phefs*7 MS/cLOF M 40+ 50 1 1 1 1 1! 1 0 1 1! Spanish
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Castro-Sanchez et al. 2015 B2KB GBB35 (I)§ BBS12 p.Gly539Asp/p.Gly539Asp MS/MS F 40+ 49 1 1 1 1 0 1 1 1 1 Spanish