Items: 726 - 750 from 899
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Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Kerr et al. 2015 03JU 1 BBS1 p.Ile330Thr/p.Arg483* MS/cLOF
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 F 20-39 23 1 1 1 1! 0 1 1 1 Polish
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Kerr et al. 2015 KV2V 2 BBS1 p.Met242Argfs*83/p.Met390Arg cLOF/MS
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 F 20-39 29 1 1 1 1 0 0 0 1 English/Scottish/German/Iceland
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Kerr et al. 2015 1GW6 3a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF F 20-39 32 1 1 1 0 0 0 1 English/Irish/Scotish
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Kerr et al. 2015 1GW6 4a BBS1 p.Met390Arg/p.Leu505Profs*52 MS/cLOF
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 M 20-39 30 1 1 1 0 0 1! 0 English/Irish/Scotish
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Kerr et al. 2015 IULP 5 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 13 1 1 1 1 Canadian
Ajmal et al. 2013 8PK6 Family A IV:4 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF F 1 1 1 1 0 0 0 0 1 Pakistani
Ajmal et al. 2013 8PK6 Family A IV:5 BBS1 c.47+1G>T/c.47+1G>T splice/splice cLOF/cLOF M 1 1 0 1 0 0 0 0 1 Pakistani
Ajmal et al. 2013 V4HF Family B IV:3 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS M 1 1 1 1 0 0 0 1 Pakistani
Ajmal et al. 2013 V4HF Family B IV:5 BBS1 c.442G>A/c.442G>A p.Asp148Asn/p.Asp148Asn MS/MS F 1 1 1 1 0 0 1 0 0 Pakistani
Ece Solmaz et al. 2015 6FB1 2 BBS1 c.48-3C>G/c.48-3C>G splice/splice cLOF/cLOF 0-9 2,5 0 0 1 1 1 1 0 0 1 Turkish
Ece Solmaz et al. 2015 DWMJ 3 BBS1 c.851delA/c.851delA p.Tyr284Serfs*5/p.Tyr284Serfs*5 cLOF/cLOF 10-19 16 1 1 1 1 1 0 0 1 1 Turkish
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
Ece Solmaz et al. 2015 9PAP 5 BBS1 c.1012C>T/c.1012C>T p.Gln338*/p.Gln338* cLOF/cLOF 20-39 20 1 1 1 1 1 1 0 1 1 Turkish
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
Scheidecker et al. 2015 0FX4 Case4 BBS1 p.Met390Arg/p.Gly318Valfs*61 MS/cLOF M 20-39 27 1 0 1 1 0 0 French
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
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
Esposito et al. 2017 3JWE P.4 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS F 40+ 70 1 1 Italian
Esposito et al. 2017 0HCQ P.5 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 Italian
Azari et al. 2006 H27Y P1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 16 0 1 1 1 1 USA
Esposito et al. 2017 CCZB P.6 BBS1 c.1169T>G/c.1642delC p.Met390Arg/p.Leu548Trpfs*31 MS/cLOF 1 0 Italian
Azari et al. 2006 IZFY P10# BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 48 0 1 1 USA
Azari et al. 2006 PUF2 P2 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 10-19 16 1 1 1 USA
Azari et al. 2006 R59Q P3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 0 1 1 1 USA