Items: 501 - 525 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
Branfield Day et al. 2015 NA 2 BBS10 F 10-19 14,4 1 1 1 NA
Branfield Day et al. 2015 NA 7 BBS10 F 10-19 16 1 0 0 NA
Branfield Day et al. 2015 NA 9 BBS2 F 10-19 14,3 1 1 1 NA
Branfield Day et al. 2015 NA 19 BBS6 M 20-39 22,2 1 1 1 NA
Branfield Day et al. 2015 NA 6 BBS8 F 10-19 15,4 1 0 1 NA
Branfield Day et al. 2015 NA 12 BBS9 F 20-39 23,8 1 1 1 NA
Branfield Day et al. 2015 NA 13 BBS9 F 20-39 20,9 1 1 0 NA
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 CUV8 A2029-21 BBS14 c.1189G>A/c.5668G>T p.Gly397Ser/p.Gly1890* MS/cLOF 1 1 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
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
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
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
Chaki et al. 2011 51M2 F15-24 BBS14 c.5649_5650insA/c.5850del2 p.Leu1884fs*23/p.Phe1950fs*15 cLOF/cLOF 1 0 1 0 NA
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
Chaki et al. 2011 TMOJ F394-27 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 1 1 0 NA
Chaki et al. 2011 G914 F4-21 BBS14 c.2218-4_2222del9/c.2218-4_2222del9 splice/splice cLOF/cLOF 1 0 1 0 NA