Items: 426 - 450 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
Hjortshoj et al. 2010 W986 P1 BBS2 p.Phe221fs*25/p.Phe221fs*25 cLOF/cLOF
[]
 F 0-9 6 1 1 1 0 0 Scandinavian
Sathya Priya et al. 2015 SREX BBS-F1 BBS10 c.1227delA/c.1227delA p.Gln409Hisfsˆ*22/p.Gln409Hisfsˆ*22 cLOF/cLOF 1 1 1 1 0 Indian
Hjortshoj et al. 2010 Y6V5 P16 BBS2 p.Phe221fs*25/p.Arg216* cLOF/cLOF
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 M 0-9 5 1 1 1 1 0 1 Scandinavian
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
Hjortshoj et al. 2010 QC14 P42 BBS2 p.Arg216*/p.Tyr24* cLOF/cLOF
[]
 M 10-19 10 1 1 1 1 0 0 Scandinavian
Hjortshoj et al. 2010 DFPM P55 BBS2 p.Phe221fs*25/p.Gln569* cLOF/cLOF
[]
 F 10-19 19 1 1 1 1 1 Scandinavian
Hjortshoj et al. 2010 XKZA P57 BBS2 p.Val94Serfs*8/p.Val94Serfs*8 cLOF/cLOF
[]
 M 0-9 1 1 1 1 1 1 0 Scandinavian
Sathya Priya et al. 2015 YFO2 BBS-Z BBS12 c.223delC/c.223delC p.Gln75Leufs*37/p.Gln75Leufs*37 cLOF/cLOF 1 1 1 1 0 1 1 Indian
Chaki et al. 2011 FMNC A1188-21 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 0 1 1 0 NA
Chaki et al. 2011 TVBG A1388-21 BBS14 c.136G>T/c.5649_5650insA p.Glu46*/p.Leu1884fs*23 cLOF/cLOF 0 1 1 0 NA
Chaki et al. 2011 BG5M A1713 -22 BBS14 c.5182G>T/c.6277del1 p.Glu1728*/p.Val2093fs*4 cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 BG5M A1713-21 BBS14 c.5182G>T/c.6277del1 p.Glu1728*/p.Val2093fs*4 cLOF/cLOF 0 0 1 0 NA
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
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
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
Chaki et al. 2011 0Q4M A2182-22 BBS14 c.2217+1G>T/c.2217+1G>T splice/splice cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 EYG6 A372-21 BBS14 c.3811C>T/c.5734del1 p.Arg1271*/p.Trp1912fs*12 cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 EYG6 A372-22 BBS14 c.3811C>T/c.5734del2 p.Arg1271*/p.Trp1912fs*12 cLOF/cLOF 1 0 1 0 NA
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
Chaki et al. 2011 9N0W A989-21 BBS14 c.4882C>T/c.5941G>T p.Gln1628*/p.Glu1981* cLOF/cLOF 1 1 1 1 NA
Sathya Priya et al. 2015 G5CL BBS-V BBS9 c.1195C>T/c.1195C>T p.Gln399*/p.Gln399* cLOF/cLOF 1 1 1 0 1 1 Indian
Chaki et al. 2011 HIJ9 F101-21 BBS14 c.5163del1/c.1066-1G>A p.Thr1721fs*3/splice cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 DNA0 F-14-20 BBS1 c.831-3C>G/c.1285C>T p.Arg429*/p.Arg429* cLOF/cLOF 1 1 1 1 Saudi Arabian
Chaki et al. 2011 51M2 F15-21 BBS14 c.5649_5650insA/c.5850del1 p.Leu1884fs*23/p.Phe1950fs*15 cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 ANYX F-17-24 BBS1 c.1424dupT/c.1424dupT p.Ser476Glufs*25/p.Ser476Glufs*25 cLOF/cLOF 1 1 1 Saudi Arabian