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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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REN
HRT
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Notes
Estrada-Cuzcano et al. 2012 (a) 5JXT 14/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 1 0 0 1 0 German
Lim et al. 2014 NA 3 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
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
Estrada-Cuzcano et al. 2012 (a) Q71J 2/M BBS1 p.Met390Arg/p.Leu388Pro MS/MS M 1 0 0 0 0 0 0 0 French
Lindstrand et al. 2014 O9YO DM012-003 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF
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 1 1 1 0 0 1 N. European
Ullah et al. 2017 VYZR B IV-2 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 17 1 0 1 0 1 0 Pakistani
Estrada-Cuzcano et al. 2012 (a) 3VCU 3/Fa BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 0 0 0 0 0 Italian
Lindstrand et al. 2014 XFT0 RC1-03 BBS10 c.926T>C/c.9_14delTTCTAT p.Leu309Pro/p.Ser3_Met5delinsArg MS/MS
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 1 1 1 1 0 1 Latino
Ullah et al. 2017 VYZR B IV-4 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 16 1 1 1 1 1 0 Pakistani
Lindstrand et al. 2014 2JO8 44/4 BBS7 c.87_88delCA/c.87_88delCA p.His29Glnfs*12/p.His29Glnfs*12 cLOF/cLOF
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 1 1 1 0 1 Israel
Ullah et al. 2017 VYZR B IV-7 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 10 1 1 1 1 1 0 Pakistani
Estrada-Cuzcano et al. 2012 (a) AR9W 5/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 0 0 0 0 0 Canadian
Lindstrand et al. 2016 48D6 AR240-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 20-39 21 1 1 1 1 0 0 NA
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
Estrada-Cuzcano et al. 2012 (a) 1NLX 6/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 1 0 0 0 0 0 0 French
Lindstrand et al. 2016 LYAD AR246-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 M 10-19 12 1 1 1 1 1 0 1 NA
Ullah et al. 2017 D8UI C IV-1 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS M 10-19 13 1 1 1 1 1 0 Pakistani
Estrada-Cuzcano et al. 2012 (a) 1NLX 7/W BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 0 0 0 0 0 Italian
Lindstrand et al. 2016 272G AR380-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 0-9 9 1 1 1 1 0 0 NA
Estrada-Cuzcano et al. 2012 (a) 4YDB 8/Mb BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 0 0 0 Belgian
Ullah et al. 2017 D8UI C IV-6 BBS8 c.1347G>C/c.1347G>C p.Gln449His/p.Gln449His MS/MS F 10-19 10 1 1 1 1 0 Pakistani
Estrada-Cuzcano et al. 2012 (a) 5ZO2 9/F BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 1 0 0 0 0 German
van Huet et al. 2013 VXOY A-IV:1 BBS21 c.497T>A/c.497T>A p.Leu166*/p.Leu166* cLOF/cLOF M 20-39 37 1 0 0 0 0 0 NA
van Huet et al. 2013 KOTG B-V:1 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF F 40+ 41 1 0 1 0 0 0 NA
van Huet et al. 2013 KOTG B-V:7 BBS21 c.156-2A>G/c.156-2A>G splice/splice cLOF/cLOF M 20-39 26 1 0 1 0 0 0 NA