Items: 401 - 425 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
Ghadami et al. 2000 YCV0 IV-11 BBS3 F 20-39 30 1 1 1 0 0 0 Iranian
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
Billingsley et al. 2010 3PNW 56{ BBS12 p.Asp480Metfs*3/p.Asp480Metfs*3 cLOF/cLOF
[]
 F 10-19 15 1 1 1 0 1 0 Pakistani
Ghadami et al. 2000 YCV0 IV-14 BBS3 M 10-19 18 1 1 1 0 0 0 Iranian
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
Ghadami et al. 2000 YCV0 IV-9 BBS3 F 20-39 33 1 1 1 0 0 1 Iranian
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
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
Branfield Day et al. 2015 NA 15 BBS1 F 20-39 23 1 1 0 NA
Otto et al. 2010 IDME SS23/A1365_21 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Branfield Day et al. 2015 NA 1 BBS10 F 10-19 15,2 1 1 1 NA
Otto et al. 2010 IDME SS23/A1365_22 BBS16 c.1420delG/c.1420delG p.Glu474fs*20/p.Glu474fs*20 cLOF/cLOF 1 1 La Réunion
Branfield Day et al. 2015 NA 2 BBS10 F 10-19 14,4 1 1 1 NA
Harville et al. 2010 C4K2 A2014-II1 BBS1 c.IVS1-1G>A/c.IVS1-1G>A splice/splice cLOF/cLOF 0 1 1 1 1 Turkish
Branfield Day et al. 2015 NA 7 BBS10 F 10-19 16 1 0 0 NA
Harville et al. 2010 CCK1 A2876-II1(AR844) BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 0 0 0 1 0 1 Europe
Branfield Day et al. 2015 NA 16 BBS10 F 20-39 20,3 1 1 0 British
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
Branfield Day et al. 2015 NA 17 BBS10 F 20-39 22,3 1 1 1 British/Irish
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
Branfield Day et al. 2015 NA 18 BBS10 M 10-19 18,2 1 1 0 German
Harville et al. 2010 2RC7 A2880-II2 BBS1 c.1169T>G/c.1169T>G p.Met390Arg/p.Met390Arg MS/MS 1 1 0 Europe
Pereiro et al. 2010 VJ0Y M250 II.6 BBS12 p.Phe372fs*2/p.Phe372fs*2 cLOF/cLOF 1 1 1 1 1 Caucasian
Branfield Day et al. 2015 NA 21 BBS10 M 10-19 19,9 1 1 0 German