Items: 451 - 475 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
Badano et al. 2003 V1PO PB009-03 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 F 20-39 32 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-04 BBS1 p.Met390Arg/p.Met390Arg MS/MS
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 M 20-39 35 1 1 1 Northern European
Badano et al. 2003 V1PO PB009-05 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 0 Northern European
Badano et al. 2003 8BCA PB061-03 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF F 20-39 20 0 0 0 Northern European
Badano et al. 2003 8BCA PB061-04 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF M 10-19 18 1 1 1 Northern European
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
White et al. 2006 TGDP Patient A BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 20-39 24 1 1 1 1 1 0 0 1 Omani
White et al. 2006 TGDP Patient B BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 10-19 13 1 1 0 1 1 0 0 1 Omani
White et al. 2006 TGDP Patient C BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF M 0-9 4 1 1 1 1 0 0 0 1 Omani
White et al. 2006 TGDP Patient D BBS10 c.995_999delAAGA/c.995_999delAAGA p.Gln242fs*17/p.Gln242fs*17 cLOF/cLOF F 0-9 6 1 1 1 1 1 0 0 1 Omani
Deveault et al. 2011 F2VY 47 BBS1 p.Ile296Thrfs*7/p.Ile296Thrfs*7 cLOF/cLOF
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 F 0-9 9 1 1 1 0 1 1 1 Pakistani
Deveault et al. 2011 NF8Q 24 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 0-9 6 1 1 1 1 1 1 1 Pakistani
Deveault et al. 2011 NF8Q 56 BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
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 F 10-19 15 1 1 1 0 1 Pakistani
Agha et al. 2013 7E5A IV-1 BBS10 c.1958_1967del/c.1958_1967del p.Ser653Ilefs*4/p.Ser653Ilefs*4 cLOF/cLOF M 10-19 15 1 1 1 1 1 0 0 1 1 Pakistani
Agha et al. 2013 7E5A IV-3 BBS10 c.1958_1967del/c.1958_1967del p.Ser653Ilefs*4/p.Ser653Ilefs*4 cLOF/cLOF M 0-9 4 1 1 1 1 Pakistani
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
Kerr et al. 2015 YWXA 19e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 17 1 1 1 1! 0 1 Pakistani
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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
Kerr et al. 2015 YWXA 20e BBS8 c.IVS2+1A/c.IVS2+1A splice/splice cLOF/cLOF F 10-19 19 1 1 1 1 0 0 1 1 Pakistani
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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
Khan et al. 2013 ITYJ B IV-2 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF F 20-39 37 1 1 0 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-3 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 26 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-4 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 20-39 20 1 1 1 1 0 0 0 Pakistani
Khan et al. 2013 ITYJ B IV-5 BBS10 p.Gln359*/p.Gln359* cLOF/cLOF M 10-19 18 1 1 1 1 0 0 0 Pakistani