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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
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Notes
Maria et al. 2016 AOD6 F01 IV:2 BBS3 c.534A>G/c.534A>G p.Gln178Gln (splice)/p.Gln178Gln (splice) cLOF/cLOF M 20-39 32 1 1 0 1 1 Pakistani
Maria et al. 2016 AOD6 F01 IV:3 BBS3 c.534A>G/c.534A>G p.Gln178Gln (splice)/p.Gln178Gln (splice) cLOF/cLOF M 40+ 40 1 1 0 1 0 1 Pakistani
Maria et al. 2016 B9HM F02 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 45 1 0 0 1 1 1 Pakistani
Maria et al. 2016 B9HM F02 IV:I BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF M 40+ 47 1 0 1 1 1 1 1 Pakistani
Maria et al. 2016 MOAU F03 IV:2 BBS5 c.734_744del/c.734_744del p.Glu245Glyfs*18/p.Glu245Glyfs*18 cLOF/cLOF F 10-19 15 1 0 1 0 1 0 1 1 Pakistani
Maria et al. 2016 AHHU F04 IV:2 BBS9 c.1789C>T/c.1789C>T p.Gln597*/p.Gln597* cLOF/cLOF M 10-19 15 1 1 1 1 1 1 1 Pakistani
Maria et al. 2016 M2A5 F05 V:2 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS M 20-39 20 1 1 0 1 1 0 Pakistani
Maria et al. 2016 M2A5 F05 V:4 BBS12 c.2014G>A/c.2014G>A p.Ala672Thr/p.Ala672Thr MS/MS F 20-39 25 1 1 0 1 0 Pakistani
Janssen et al. 2011 ODT5 F1 (A2891) -4 BBS10 c.271_272insT/c.391delC p.Cys91fs*5/p.Gln131fs*4 cLOF/cLOF 1 1 1 1 1 1 N. European
Janssen et al. 2011 ODT5 F1 (A2891)-5 BBS10 c.271_272insT/c.391delC p.Cys91fs*5/p.Gln131fs*4 cLOF/cLOF 1 1 1 1 1 1 N. European
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 H8CI F1054-21 BBS16 c.1796T>G/c.1796T>G p.Leu599* /p.Leu599* cLOF/cLOF F 0 0 1 1 0 NA
Chaki et al. 2011 H8CI F1054-22 BBS16 c.1796T>G/c.1796T>G p.Leu599* /p.Leu599* cLOF/cLOF 0 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 BHW5 F159-21 BBS16 c.421-?_740+?del/c.421-?_740+?del p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs* cLOF/cLOF 1 0 1 0 NA
Chaki et al. 2011 BHW5 F159-22 BBS16 c.421-?_740+?del/c.421-?_740+?del p.Glu141_Arg247del107fs*/p.Glu141_Arg247del107fs* cLOF/cLOF 0 0 1 0 NA
Chaki et al. 2011 5NJD F195-21 BBS16 c.1946_1949del4/c.1946_1949del4 p.Cys649fs*10/p.Cys649fs*10 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 X52J F336-21 BBS16 c.1339_340insG/c.1339_340insG p.Glu447fs*17/p.Glu447fs*17 cLOF/cLOF 1 1 1 0 NA
Chaki et al. 2011 X52J F336-22 BBS16 c.1339_340insG/c.1339_340insG p.Glu447fs*17/p.Glu447fs*17 cLOF/cLOF 1 1 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
Janssen et al. 2011 RZU9 F523 0 BBS10 c.539G>A/c.539G>A p.Gly180Glu/p.Gly180Glu MS/MS 1 N. European