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
M'hamdi et al. 2013 0P3E BBS-F08-B BBS10 c.1171_1181dupGCATTTATACC/c.1171_1181dupGCATTTATACC p.Ser396Leufs*6/p.Ser396Leufs*6 cLOF/cLOF
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 F 10-19 11 1 1 0 1 1 1 Tunisian
Billingsley et al. 2010 PXHX 60yy BBS10 p.Lys188Thr/p.Ala636Val MS/MS
[]
 F 0-9 6 1 0 1 1 1 0 1 Turkish
Gerth et al. 2008 NSTJ 2597 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 21 1 1 1 1 0 0 Canada
M'hamdi et al. 2013 QJ44 BBS-F02-A BBS2 c.345+5G>A/c.345+5G>A splice/splice cLOF/cLOF
[]
 M 0-9 6 1 1 1 1 1 0 Tunisian
Billingsley et al. 2010 PXHX 65y BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
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 M 20-39 27 1 1 1 1 1 0 0 1 South African Black
M'hamdi et al. 2013 FHWS BBS-F07-A BBS2 c.565C>T/c.565C>T p.Arg189*/p.Arg189* cLOF/cLOF F 0-9 8 1 1 1 1 0 0 Tunisian
Billingsley et al. 2010 PXHX 66y BBS10 p.Leu55Pro/p.Glu274Valfs*29 MS/cLOF
[]
 M 10-19 10 1 1 1 1 1 0 1 1 South African Black
M'hamdi et al. 2013 U5TO BBS-F13-A BBS5 c.149T>G/c.149T>G p.Leu50Arg/p.Leu50Arg MS/MS
[]
 F 10-19 11 1 1 1 1 0 0 Tunisian
M'hamdi et al. 2013 BK29 BBS-F10-A BBS6 c.1272+1G>A/c.1272+1G>A splice/splice cLOF/cLOF
[]
 F 0-9 7 1 1 1 1 1 0 Tunisian
Billingsley et al. 2010 YAGJ 126** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
[]
 F 0-9 4 1 1 1 1 Canadian Native Indian
Billingsley et al. 2010 YAGJ 128** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 16 1 1 0 1 Canadian Native Indian
Otto et al. 2010 L0I5 FI.2_21 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Otto et al. 2010 L0I5 FI.2_22 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Otto et al. 2010 L0I5 FI.2_23 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Otto et al. 2010 L0I5 FI.2_24 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF 1 1 1 1 Gypsy
Otto et al. 2010 4DOC FII.22_21 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF 1 1 1 1 1 NA
Billingsley et al. 2012 MESS 40 BBS16 p.Thr482Lysfs*12/p.Asp543Alafs*24 cLOF/cLOF
[]
 10-19 16 1 1 0 1 0 1 0 0 1 East Indian
Otto et al. 2010 4DOC FII.22_22 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF 1 1 1 1 1 NA
González‐del Pozo et al. 2013 7KIL II:2 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS F 1 0 1 1 0 0 0 0 Spanish
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
González‐del Pozo et al. 2013 7KIL II:4 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS
[]
 M 1 1 1 1 0 1 0 0 Spanish
González‐del Pozo et al. 2013 7KIL II:5 BBS6 c.269A>G/c.1186G>T p.Asp90Gly/p.Val396Phe MS/MS M 1 1 1 1 0 0 0 0 Spanish
Harville et al. 2010 CCK1 A2876-II2 (AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 1 0 1 Europe
Harville et al. 2010 2RC7 A2880-II1 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 1 1 0 1 1 Europe
Pereiro et al. 2010 VJ0Y M250 II.3 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian