Items: 751 - 775 from 899
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Source
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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
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 3KOY GBB6 (110) BBS1 p.Met390Arg/p.Leu288Arg MS/MS M 20-39 38 1 1 1 0 0 Spanish
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
Chaki et al. 2011 LTKJ A1715-21 BBS14 c.5311G>T/c.5445_5448delA p.Glu1771*/p.Leu1815fs*4 cLOF/cLOF 1 1 1 0 NA
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
Chaki et al. 2011 S87U A197-21 BBS14 c.3175_3176insA/c.7341_7342insA p.Ile1059fs*11/p.Leu2448fs*8 cLOF/cLOF 1 0 1 0 NA
Sathya Priya et al. 2015 U9D6 BBS-A BBS4 c.1077-?_1601+?/c.1077-?_1601+? p.?/p.? ?/? 1 0 1 1 0 Indian
Castro-Sanchez et al. 2015 H8IH M499-(4994)‡ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 57 1 1 1 0 Spanish
Chaki et al. 2011 CUV8 A2029-21 BBS14 c.1189G>A/c.5668G>T p.Gly397Ser/p.Gly1890* MS/cLOF 1 1 1 0 NA
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
Chaki et al. 2011 0Q4M A2182-21 BBS14 c.2217+1G>T/c.2217+1G>T splice/splice cLOF/cLOF 1 1 1 0 NA
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