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Protein change
TOM
Add. mut.
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Notes
Abu-Safieh et al. 2012 DIFV BBS-F027-A BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
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 1 1 1 0 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 DIFV BBS-F027-B BBS12 c.959T>A/c.959T>A p.Leu320Gln/p.Leu320Gln MS/MS
[]
 1 1 1 0 1 1 0 0 Saudi Arabian
Shaheen et al. 2016 7ZKJ F-30-54 BBS9 c.956delC/c.956delC p.Thr319Asnfs*2/p.Thr319Asnfs*2 cLOF/cLOF 1 1 1 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 LNEN BBS-F010-A BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 0 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LNEN BBS-F010-B BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 0 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 LNEN BBS-F010-C BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 0 1 0 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 K3C9 BBS-F014-A BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 K3C9 BBS-F014-B BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 RD3Y BBS-F026-A BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF
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 1 1 1 1 1 0 0 0 Saudi Arabian
Abu-Safieh et al. 2012 RD3Y BBS-F026-B BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF 1 1 1 1 1 0 0 0 Saudi Arabian
Aldahmesh et al. 2014 MZKJ BBS_DG4a BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF M 1 1 1 1 1 0 0 Saudi Arabian
Aldahmesh et al. 2014 MZKJ BBS_DG4b BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*62/p.Gly318Valfs*62 cLOF/cLOF F 1 1 1 1 0 0 Saudi Arabian
Shaheen et al. 2016 YTIO F-23-37 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 YTIO F-23-38 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-81 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-82 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-83 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-84 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 0 1 1 Saudi Arabian
Shaheen et al. 2016 HP63 F-47-85 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 5M4H F-48-86 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 WQ0L F-67-124 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 Saudi Arabian
Ece Solmaz et al. 2015 3AJL 11 BBS7 c.949C>G/c.949C>G p.Leu317Val/p.Leu317Val MS/MS 10-19 19 1 1 0 1 0 1 0 1 1 Turkish
Janssen et al. 2011 DRZF A1155 0 BBS2 c.947G>A/c.947G>A p.Gly316Asp/p.Gly316Asp MS/MS 0 1 0 1 1 N. European
Shaheen et al. 2016 FMMH F-78-140 BBS2 c.943C>T/c.943C>T p.Arg315Trp/p.Arg315Trp MS/MS 1 1 1 Saudi Arabian