Items: 801 - 825 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
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HRT
LIV
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Notes
González‐del Pozo et al. 2013 7KIL II:4 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS
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 M 1 1 1 1 0 1 0 0 Spanish
González‐del Pozo et al. 2013 7KIL II:5 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS M 1 1 1 1 0 0 0 0 Spanish
Pawlik et al. 2010 RNS3 IV-2 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 30 1 0 1 0 0 0 0 0 0 Pakistani
Pawlik et al. 2010 RNS3 IV-3 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 20-39 27 1 0 1 0 0 0 0 0 0 Pakistani
Pawlik et al. 2010 RNS3 IV-9 BBS12 c.2103C>A/c.2103C>A p.Ser701*/p.Ser701* cLOF/cLOF 10-19 19 1 0 1 0 0 0 0 0 0 Pakistani
Rahner et al. 2016 TUBA II.1 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 20-39 20 1 0 1 0 0 Moroccan
Rahner et al. 2016 TUBA II.3 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 10-19 15 1 0 1 0 0 Moroccan
Reiner et al. 2018 XDWM Patient BBS9 deletion of exons 1-4/deletion of exons 1-4 cLOF/cLOF M 0-9 1 1 1 0 0 0 1 Guyanese
Castro-Sanchez et al. 2015 0ZFK B260 (1476) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 46 1 0 1 0 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 M6S4 GBB27 (I)‡ BBS1 p.Met390Arg/p.His504fs*48 MS/cLOF M 10-19 17 1 1 0 1 0 0 0 Spanish
Hulleman et al. 2016 E4HN ID SIO101 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS M 10-19 18 1 0 1 0 0 0 0 0 India
Castro-Sanchez et al. 2015 M6S4 GBB27 (II)‡ BBS1 p.Met390Arg/p.His504fs*48 MS/cLOF F 0-9 3 1 1 1 1 0 0 0 1 Spanish
Hulleman et al. 2016 E4HN ID SIO102 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS F 10-19 13 1 0 1 0 0 0 0 0 India
Castro-Sanchez et al. 2015 WICN M63 (1078)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 M 40+ 41 1 1 1 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 WICN M63 (1081)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 38 1 1 0 1 1 0 0 1 Spanish
Castro-Sanchez et al. 2015 QGJM M713-(336)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 20-39 35 1 1 0 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 QGJM M713-(337)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 20-39 33 1 1 0 0 0 0 0 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 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 (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 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 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 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 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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