Items: 851 - 875 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
Sathya Priya et al. 2015 5AB3 BBS-Y BBS2 c.209G>A/c.209G>A p.Ser70Asn/p.Ser70Asn MS/MS 1 1 0 0 1 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
Castro-Sanchez et al. 2015 Y7RJ M129-(1519)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 61 1 1 0 1 1 0 Spanish
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
Castro-Sanchez et al. 2015 H8IH M499-(4993)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 73 1 1 0 0 Spanish
Castro-Sanchez et al. 2015 H8IH M499-(4994)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 57 1 1 1 0 Spanish
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
Castro-Sanchez et al. 2015 DJ2Y M622-(708)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 73 1 1 1 0 Spanish
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
Castro-Sanchez et al. 2015 WICN M63 (1078)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS
[]
 M 40+ 41 1 1 1 1 1 1 0 Spanish
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
Castro-Sanchez et al. 2015 YWEP M732-(804) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 51 1 1 1 1 Spanish
Chaki et al. 2011 2XE6 F335-21 BBS14 c.2915T>C/c.2915T>C p.Leu972Pro/p.Leu972Pro MS/MS 1 0 1 0 NA
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 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