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Source ID
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Nucl. change
Protein change
TOM
Add. mut.
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Age
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HRT
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Notes
Janssen et al. 2011 RZU9 F523 0 BBS10 c.539G>A/c.539G>A p.Gly180Glu/p.Gly180Glu MS/MS 1 N. European
Shaheen et al. 2016 ZKT1 F-209 293 BBS20 c.4630C>T/c.4630C>T p.Arg1544Cys/p.Arg1544Cys MS/MS 1 1 Saudi Arabian
Shaheen et al. 2016 R1VC F-66-123 BBS4 c.77_156del/c.77_156del p.Ala26Glyfs*15/p.Ala26Glyfs*15 cLOF/cLOF 1 1 1 Saudi Arabian
Janssen et al. 2011 1PLE PB2330 BBS9 c.1556T>G/c.1556T>G p.Leu350Arg/p.Leu350Arg MS/MS 1 1 Turkish
Shaheen et al. 2016 QT17 F-25-42 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 QT17 F-25-43 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 0 1 1 1 Saudi Arabian
Shaheen et al. 2016 5UL5 F-32-56 BBS5 c.955_957del/c.955_957del p.Glu319del/p.Glu319del MS/MS 1 1 1 1 1 Saudi Arabian
Abu-Safieh et al. 2012 Y63A BBS-F032-A BBS13 Exon1loss/ loss of exon 1/loss of exon 1 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Deveault et al. 2011 D90X 60 BBS10 p.Lys188Thr/p.Ala636Val MS/MS
[]
 F 0-9 6 1 1 1 1 1 1 Turkish
Deveault et al. 2011 GZYP 126 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
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 F 0-9 4 1 1 1 1 Denea
Deveault et al. 2011 GZYP 128 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 10 0 0 1 1 1 Denea
Deveault et al. 2011 65LF 69 BBS2 p.Arg622*/p.Ala136Pro cLOF/MS F 0-9 7 1 1 1 1 1 1 South African Black/European/Asian
Deveault et al. 2011 NZLP 130 BBS2 p.Thr157Thr (splice)/p.Thr157Thr (splice) cLOF/cLOF F 0-9 0 1 1 1 Lebanese
Alazami et al. 2012 FLZL JS_F12 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF F 1 1 1 0 1 Saudi Arabian
Alazami et al. 2012 QH09 JS_F3 BBS14 c.4714G>T/c.4714G>T p.Glu1572*/p.Glu1572* cLOF/cLOF F 0 1 1 0 1 Saudi Arabian
Suspitsin et al.2015 8ANZ II.6 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF F 0-9 1,5 1 1 Russian
Badano et al. 2003 8BCA PB061-03 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF F 20-39 20 0 0 0 Northern European
Ullah et al. 2017 VYZR B V-1 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 0-9 6 1 1 1 0 Pakistani
Badano et al. 2003 8BCA PB061-04 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF M 10-19 18 1 1 1 Northern European
Bennouna-Greene et al. 2011 OURF 04.02.02 BBS10 p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF F 10-19 16 1 0 French
Young et al. 1998 VNDY 15 BBS3 F 40+ 54 1 1 1 Newfoundland
Frank et al. 2007 0ZHU 850 BBS13 c.262-37_179del/c.262-37_179del splice/splice cLOF/cLOF
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 1 1 1 Turkish
Young et al. 1998 VNDY 23 BBS3 M 20-39 31 1 1 0 Newfoundland
Frank et al. 2007 JF8N 937 BBS13 c.1407+2delT/c.1407+2delT splice/splice cLOF/cLOF 1 1 1 Turkish
Frank et al. 2007 NP9T 943 BBS13 c.1408-7_35del/c.417G>A p.Glu139Glu (splice)/p.Glu139Glu (splice) cLOF/cLOF 1 1 1 German