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Add. mut.
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Notes
Shaheen et al. 2016 P78N F-162 233 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 OPSI F-179 254 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 M87Y F-198 281 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 0YU0 F-172 245 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 0YU0 F-172 246 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 Saudi Arabian
Suzuki et al. 2016 1YH2 2.I BBS14 c.5788A>T/c.5788A>T p.Lys1930*/p.Lys1930* cLOF/cLOF 1 0 1 1 0 1 Japanese
Ullah et al. 2017 2AEI A IV-3 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 20-39 21 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 2AEI A IV-4 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 10-19 15 1 1 1 1 1 0 Pakistani
Ullah et al. 2017 2AEI A IV-5 BBS7 c.580_582delGCA/c.580_582delGCA 3bp del/3bp del MS/MS M 10-19 12 1 1 1 1 1 0 Pakistani
Shaheen et al. 2016 E36R F-171 244 BBS14 c.5824C>T/c.5824C>T p.Gln1942*/p.Gln1942* cLOF/cLOF 1 1 Saudi Arabian
Suzuki et al. 2016 WMKD 4 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Suzuki et al. 2016 PVIK 10 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 0 0 1 1 0 1 Japanese
Suzuki et al. 2016 ZTJ4 13 BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Suzuki et al. 2016 1YH2 2.II BBS14 c.6012-12T>A/c.6012-12T>A splice/splice cLOF/cLOF 0 0 1 1 0 1 Japanese
Abu-Safieh et al. 2012 INBL BBS-F012-A BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 INBL BBS-F012-B BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Abu-Safieh et al. 2012 INBL BBS-F012-C BBS7 c.602-2A>T/c.602-2A>T no RNA available/no RNA available cLOF/cLOF 1 1 1 1 1 0 0 Saudi Arabian
Aldahmesh et al. 2014 AOMQ BBS_DG6a BBS7 c.602-2A>T/c.602-2A>T splice/splice cLOF/cLOF F 1 1 1 1 0 1 0 0 Saudi Arabian
Aldahmesh et al. 2014 AOMQ BBS_DG6b BBS7 c.602-2A>T/c.602-2A>T splice/splice cLOF/cLOF F 1 1 1 1 0 0 0 0 Saudi Arabian
Suzuki et al. 2016 YWJV 9 BBS14 c.6271-8T>G/c.6012-12T>A splice/splice cLOF/cLOF 1 0 1 1 0 1 Japanese/Paraguayan
Esposito et al. 2017 ZUWC P.15 BBS10 c.641T>A/c.641T>A p.Val214Glu/p.Val214Glu MS/MS 1 1 Italian
Esposito et al. 2017 SC5U P.1 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
Esposito et al. 2017 3JWE P.2 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
Schaefer et al. 2011(a) KHCD II.22.21 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF M 10-19 19 1 1 0 1 1 1 French
Schaefer et al. 2011(a) KHCD II.22.22 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF F 10-19 15 1 1 0 1 1 1 French