Items: 176 - 200 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
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Age
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Notes
Aldahmesh et al. 2014 UUT5 BBS_DG1a BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS F 1 1 0 1 1 1 Saudi Arabian
Aldahmesh et al. 2014 UUT5 BBS_DG1b BBS10 c.1736A>G/c.1736A>G p.Lys579Arg/p.Lys579Arg MS/MS M 1 1 1 1 1 0 1 Saudi Arabian
Aldahmesh et al. 2014 TUBP BBS_DG5a BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 1 1 1 1 0 1 0 1 Saudi Arabian
Aldahmesh et al. 2014 TUBP BBS_DG5b BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 1 1 0 1 0 Saudi Arabian
Aldahmesh et al. 2014 TUBP BBS_DG5c BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 1 1 0 0 0 1 Saudi Arabian
Aldahmesh et al. 2014 TUBP BBS_DG5d BBS5 c.966dup/c.966dup p.Ala323Cysfs∗57/p.Ala323Cysfs∗57 cLOF/cLOF F 1 1 0 1 0 1 0 1 Saudi Arabian
Aldahmesh et al. 2014 3LKE BBS_DG9a BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS M 1 1 1 1 1 0 0 0 Saudi Arabian
Aldahmesh et al. 2014 3LKE BBS_DG9b BBS6 c.116C>T/c.116C>T p.Pro39Leu/p.Pro39Leu MS/MS M 1 1 1 1 1 0 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
Suzuki et al. 2016 UFCD 19 BBS1 c.1139G>A/c.1139G>A p.Arg380Gln/p.Arg380Gln MS/MS 1 0 1 0 0 1 Omani
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
Esposito et al. 2017 SC5U P.1 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
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
Al-Hamed et al. 2014 73V9 Affected female-1 BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 1 1 1 1 1 0 1 Saudi Arabian
Esposito et al. 2017 3JWE P.2 BBS1 c.664G>C/c.664G>C p.Gly222Arg/p.Gly222Arg MS/MS 1 1 Italian
Suzuki et al. 2016 DZJM 5 BBS14 c.214G>T/c.6012-12T>A p.Glu72*/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
Al-Hamed et al. 2014 73V9 Affected female-2 BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF F 0 1 1 1 1 1 1 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
Al-Hamed et al. 2014 73V9 Affected male BBS5 c.966dupT/c.966dupT p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF M 0 1 1 1 1 0 1 1 Saudi Arabian
Esposito et al. 2017 0HCQ P.5 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 Italian
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
Esposito et al. 2017 CCZB P.6 BBS1 c.1169T>G/c.1642delC p.Met390Arg/p.Leu548Trpfs*31 MS/cLOF 1 0 Italian
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
Esposito et al. 2017 7KX0 P.12 BBS10 c.2137_2140del/c.962A>G p.Lys713Phefs*16/p.Tyr321Cys cLOF/MS
[]
 1 1 Italian
Suzuki et al. 2016 JX2N 25 BBS14 c.1645C>T/c.6012-12T>A p.Arg549*/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
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