Items: 101 - 125 from 899
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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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HRT
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Notes
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 Q6AP P.13 BBS10 c.235dupA/c.271dupT p.Thr79Asnfs*17/p.Cys91Leufs*5 cLOF/cLOF 1 1 Italian
Esposito et al. 2017 7KX0 P.12 BBS10 c.2137_2140del/c.962A>G p.Lys713Phefs*16/p.Tyr321Cys cLOF/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
Otto et al. 2010 AZ5O NK-F1063 BBS16 c.1444delA/c.1627_1630delGATA p.Thr482fs*12/p.Asp543fs*24 cLOF/cLOF 1 1 1 1 India
Katsanis et al. 2001 NITU NFB14§ BBS2 p.Tyr24*/p.Tyr24* cLOF/cLOF
[]
 1 1 1 1 1 1 Newfoundland
Katsanis et al. 2000 RAHD NF-B5 BBS6 p.Leu277Pro/p.Phe94fs*10 MS/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 H6BV NF-B4 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 H6BV NF-B4 1 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 GLPO NF-B3 2 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 0 1 Newfoundland
Katsanis et al. 2000 GLPO NF-B3 1 BBS6 p.Phe94fs*10/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 Y5Z6 NF-B13 2 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 Y5Z6 NF-B13 1 BBS6 p.Asp143fs*15/p.Asp143fs*15 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 SZVU NF-B1 2 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Katsanis et al. 2000 SZVU NF-B1 1 BBS6 p.Asp143fs*15/p.Phe94fs*10 cLOF/cLOF 1 1 1 1 Newfoundland
Baker et al. 2010 NA NA BBS1 F 10-19 17 0 1 0 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 20-39 24 1 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 10-19 18 1 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 F 20-39 21 1 1 United Kingdom
Baker et al. 2010 NA NA BBS1 M 20-39 27 1 1 1 United Kingdom
Pereiro et al. 2010 M9QZ M79 II.2 BBS6 p.Gly250Arg/p.Gly250Arg MS/MS 1 1 1 1 Caucasian
Castro-Sanchez et al. 2015 POGM M79 (1608)§ BBS6 p.Gly250Arg/p.Gly250Arg MS/MS F 20-39 36 1 1 1 1 1 1 0 Spanish
Castro-Sanchez et al. 2015 YWEP M732-(804) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 51 1 1 1 1 Spanish
Castro-Sanchez et al. 2015 QGJM M713-(337)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 20-39 33 1 1 0 0 0 0 0 Spanish
Castro-Sanchez et al. 2015 QGJM M713-(336)‡ BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 20-39 35 1 1 0 0 0 0 0 Spanish
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