Items: 326 - 350 from 899
CSV export Reset filters
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 UGBG BBS-H BBS10 c.271_272insT/c.271_272insT p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF 1 1 1 0 0 Indian
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
Shaheen et al. 2016 UY8C F-20-29 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
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
Shaheen et al. 2016 UY8C F-20-30 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
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
Shaheen et al. 2016 RSZT F-221 307 BBS10 c.959_962delGTTA/c.959_962delGTTA p.Ser320Ilefs*5/p.Ser320Ilefs*5 cLOF/cLOF 1 1 Saudi Arabian
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
Shaheen et al. 2016 HDIC F-36-60 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 1 1 1 1 1 Saudi Arabian
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
Shaheen et al. 2016 SPQD F-37-61 BBS10 c.1892_1896del/c.1892_1896del p.Met631Asnfs*3/p.Met631Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
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
Shaheen et al. 2016 DVJA F-79-141 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
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
Janssen et al. 2011 OTUQ A3185 0 BBS10 c.687delA/c.271_272insT p.Pro229fs*8/p.Cys91fs*5 cLOF/cLOF 1 1 1 1 1 USA
Janssen et al. 2011 N3GL AR151 (A2834) -4 BBS10 c.271_272insT/c.1676_1677insA p.Cys91fs*5/p.Tyr559fs*1 cLOF/cLOF 1 1 1 1 0 1 N. European
Janssen et al. 2011 HSBG AR232 (A2839)-4 BBS10 c.271_272insT/c.1677delC p.Cys91fs*5/p.Tyr559fs*1 cLOF/cLOF 1 1 1 1 0 N. European
Janssen et al. 2011 M170 AR371 (A2850) -3 BBS10 c.271_272insT/c.899A>C p.Cys91fs*5/p.His300Pro cLOF/MS 1 1 1 1 N. European
Janssen et al. 2011 18IG AR515 (A2857) -3 BBS10 c.271_272insT/c.1250C>T p.Cys91fs*5/p.Ala417Val cLOF/MS 1 1 1 1 0 N. European
Janssen et al. 2011 8Y4G AR707 (A2864) -8 BBS10 c.271_272insT/c.1407T>G p.Cys91fs*5/p.Tyr469* cLOF/cLOF 1 1 1 1 1 1 N. European
Sathya Priya et al. 2015 AF1K BBS-Q BBS11 c.722A>G/c.722A>G p.Tyr241Cys/p.Tyr241Cys MS/MS 1 1 1 0 1 0 Indian
Janssen et al. 2011 HWI6 AR248 (A2843) -5 BBS12 c.998G>A/c.998G>A p.Gly333Glu/p.Gly333Glu MS/MS 1 1 1 1 1 N. European
Abu-Safieh et al. 2012 DIFV BBS-F027-A BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
[]
 1 1 1 0 1 1 0 0 Saudi Arabian