Items: 176 - 200 from 899
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Source
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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 III-5 BBS3 M 1 0 1 0 Iranian
Ghadami et al. 2000 YCV0 III-10 BBS3 F 40+ 62 1 1 0 0 0 Iranian
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
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
Schaefer et al. 2013 9V5G II:3 BBS17 c.260T>C/c.778G>T p.Leu87Pro/p.Glu260* MS/cLOF F 20-39 36 1 1 1 1 1 French
Shin et al. 2015 50Z6 II:2 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 26 1 1 0 1 0 1 1 0 1 Korean
Schaefer et al. 2013 9V5G II:2 BBS17 c.260T>C/c.778G>T p.Leu87Pro/p.Glu260* MS/cLOF F 20-39 36 1 1 1 1 1 French
Bee et al. 2015 PTO2 II:2 BBS2 c.1864C>T/c.1932T>A p.Arg622*/p.Tyr644* cLOF/cLOF F 20-39 37 1 1 1 1 1 Malay
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
Shin et al. 2015 50Z6 II:1 BBS7 c.103-1G>A/c.728G>A splice/p.Cys243Tyr cLOF/MS M 20-39 28 1 1 0 1 0 1 1 0 1 Korean
Schaefer et al. 2011(b) ESHT II.6 BBS10 c.271_272insT/c.271_272insT p.Cys91Leufs*5/p.Cys91Leufs*5 cLOF/cLOF F 1 1 1 1 1 French
Suspitsin et al.2015 8ANZ II.6 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF F 0-9 1,5 1 1 Russian
Suspitsin et al.2015 8ANZ II.4 BBS7 c.1967_1968delTAinsC/c.1967_1968delTAinsC p.Leu656fs*18/p.Leu656fs*18 cLOF/cLOF M 0-9 7 1 1 1 1 1 Russian
Schaefer et al. 2011(a) ILMO II.30 BBS16 c.1120C>T/c.1120C>T p.Arg374*/p.Arg374* cLOF/cLOF F 0-9 6 1 1 0 1 1 French
Rahner et al. 2016 TUBA II.3 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 10-19 15 1 0 1 0 0 Moroccan
Schaefer et al. 2011(a) KHCD II.22.22 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF F 10-19 15 1 1 0 1 1 1 French
Schaefer et al. 2011(a) KHCD II.22.21 BBS16 c.679A>T/c.679A>T p.Lys227*/p.Lys227* cLOF/cLOF M 10-19 19 1 1 0 1 1 1 French
Rahner et al. 2016 TUBA II.1 BBS21 c.155+2T>C/c.155+2T>C splice/splice cLOF/cLOF F 20-39 20 1 0 1 0 0 Moroccan
Kamme et al. 2016 L4YK II-2 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS F 20-39 28 1 1 0 1 Swedish
Kamme et al. 2016 L4YK II-1 BBS5 c.790G>A/c.790G>A p.Gly264Arg/p.Gly264Arg MS/MS M 10-19 12 1 1 0 Swedish
Hulleman et al. 2016 E4HN ID SIO102 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS F 10-19 13 1 0 1 0 0 0 0 0 India
Hulleman et al. 2016 E4HN ID SIO101 BBS6 c.1184A>G/c.1184A>G p.His395Arg/p.His395Arg MS/MS M 10-19 18 1 0 1 0 0 0 0 0 India
Schaefer et al. 2011(a) DRXS I.2.25 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 20-39 31 1 1 0 1 1 1 French
Schaefer et al. 2011(a) DRXS I.2.24 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF M 0-9 8 1 0 0 1 1 French
Schaefer et al. 2011(a) DRXS I.2.23 BBS16 c.740+356C>T/c.740+356C>T splice/splice cLOF/cLOF F 10-19 14 1 1 0 1 1 French
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