Items: 501 - 525 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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REN
HRT
LIV
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Notes
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
Sathya Priya et al. 2015 PBI3 BBS-F BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 1 0 Indian
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
Sathya Priya et al. 2015 9FSA BBS-U BBS2 c.376A>G/c.376A>G p.Ile123Val/p.Ile123Val MS/MS 1 1 1 0 1 0 1 Indian
Castro-Sanchez et al. 2015 WZMT GBB7 (111)‡ BBS1 p.Met390Arg/p.Val366Asp MS/MS F 20-39 21 1 1 1 1 1 0 1 Spanish
Sathya Priya et al. 2015 8JNZ BBS-D BBS3 c.302G>T/c.302G>T p.Arg101Ile/p.Arg101Ile MS/MS 1 1 1 0 0 Indian
Castro-Sanchez et al. 2015 WZMT GBB7 (112)‡ BBS1 p.Met390Arg/p.Val366Asp MS/MS M 20-39 25 1 1 1 1 1 0 1 Spanish
Sathya Priya et al. 2015 INPU BBS-K BBS3 c.272T>C/c.272T>C p.Ile91Thr/p.Ile91Thr MS/MS 1 1 1 1 1 0 Indian
Castro-Sanchez et al. 2015 Y7RJ M129-(1518)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 64 1 1 0 1 1 0 1 0 Spanish
Sathya Priya et al. 2015 PYKP BBS-R BBS3 c.272T>C/c.272T>C p.Ile91Thr/p.Ile91Thr MS/MS 1 1 1 1 0 Indian
Sathya Priya et al. 2015 1U6N BBS-T BBS3 c.272T>C/c.272T>C p.Ile91Thr/p.Ile91Thr MS/MS 1 1 1 1 1 0 Indian
Sathya Priya et al. 2015 U9D6 BBS-A BBS4 c.1077-?_1601+?/c.1077-?_1601+? p.?/p.? ?/? 1 0 1 1 0 Indian
Sathya Priya et al. 2015 KIOI BBS-E BBS5 c.471G>A/c.471G>A p.Arg138His/p.Arg138His MS/MS 1 1 1 0 0 0 Indian
Castro-Sanchez et al. 2015 DJ2Y M622-(192)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 93 1 0 0 0 0 0 Spanish
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
Sathya Priya et al. 2015 QRH7 BBS-D1 BBS6 c.1595G>T/c.1549C>T p.Gly532Val/p.Arg517Cys MS/MS 1 1 0 1 1 0 1 Indian
Sathya Priya et al. 2015 EI85 BBS-X BBS6 c.1595G>T/c.1549C>T p.Gly532Val/p.Arg517Cys MS/MS 1 1 0 1 1 0 Indian
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
Sathya Priya et al. 2015 X7SU BBS-L BBS9 r.618_702del/r.618_702del p.Tyr207Trpfs*4/p.Tyr207Trpfs*4 cLOF/cLOF 1 1 1 1 1 0 1 Indian
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 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