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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Age
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Notes
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
Castro-Sanchez et al. 2015 DJ2Y M622-(708)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 73 1 1 1 0 Spanish
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
Chaki et al. 2011 G914 F4-22 BBS14 c.2218-4_2222del10/c.2218-4_2222del10 splice/splice cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 C8Q4 F57-21 BBS14 c.1A>G/c.1419_1423del5 start codon defect/p.Lys473fs*6 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 3DQF F63-21 BBS14 c.4656del1/c.5668G>T p.Lys1552fs*5/p.Gly1890* cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 KYJJ F700-24 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 1 1 0 NA
Chaki et al. 2011 KYJJ F700-26 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 1 1 0 NA
Chaki et al. 2011 P927 F89-21 BBS14 c.5515_5518del4/c.5649_5650insA p.Glu1843fs*7/p.Leu1883fs*24 cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 Y3MD F944-31 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 Y3MD F944-32 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 WB7H A1365-21 BBS16 c.1420del1/c.1420del1 p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 WB7H A1365-22 BBS16 c.1420del2/c.1420del2 p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 ITBC A2290-21 BBS16 c.1068+1G>A/c.1068+1G>A splice/splice cLOF/cLOF 1 1! 1 0 NA
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