Items: 776 - 800 from 899
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Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
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Age
RD
OBE
PD
CI
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REN
HRT
LIV
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Notes
Bennouna-Greene et al. 2011 I8TW 01.07.15 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 18 0 1 0 French
Bennouna-Greene et al. 2011 TFG2 05.02.07 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 34 1 1 0 French
Bennouna-Greene et al. 2011 Q3SV 06.01.01 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 33 1 0 0 French
Bennouna-Greene et al. 2011 2KMJ 06.02.04 BBS1 p.Met390Arg/p.Glu549* MS/cLOF M 10-19 19 1 1 0 French
Bennouna-Greene et al. 2011 2KMJ 06.02.05 BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 21 1 0 0 French
Bennouna-Greene et al. 2011 XI3Q 1.16.25 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 20-39 38 1 1 0 French
Bennouna-Greene et al. 2011 K7Y0 1.4.c BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 17 1 0 0 French
Bennouna-Greene et al. 2011 L1UE 01.06.06 BBS10 p.Cys91fs*5/p.Leu348fs*13 cLOF/cLOF M 20-39 28 1 1 0 French
Bennouna-Greene et al. 2011 2FSK 04.01.01 BBS10 p.Arg49Trp/p.Leu414Ser MS/MS M 10-19 19 1 0 0 French
Bennouna-Greene et al. 2011 OURF 04.02.02 BBS10 p.Cys91fs*5/p.Cys91fs*5 cLOF/cLOF F 10-19 16 1 0 French
Bennouna-Greene et al. 2011 NK6A 1.10.19 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 34 1 1 1 French
Bennouna-Greene et al. 2011 LCQ5 1.12.21 BBS10 p.Cys91fs*5/p.Tyr321* cLOF/cLOF M 20-39 30 1 1 0 French
Bennouna-Greene et al. 2011 BJT1 01.04.05 BBS12 p.Arg355*/p.Arg355* cLOF/cLOF M 20-39 23 0 1 1 French
Bennouna-Greene et al. 2011 JF1V 06.03.09 BBS12 p.Pro195Leu/p.Ile346Thr MS/MS M 20-39 37 1 1 1 French
Bennouna-Greene et al. 2011 9SFS 1.13.22 BBS12 p.Tyr257fs*10/p.Tyr257fs*10 cLOF/cLOF M 10-19 19 1 1 1 French
Bennouna-Greene et al. 2011 4HTC 01.05.07 BBS2 p.Pro134fs*67/p.Leu209fs*21 cLOF/cLOF M 20-39 27 1 1 1 French
Bennouna-Greene et al. 2011 4HRZ 1.11.20 BBS6 c.429delCT/c.433delAG p.Asp143fs*6/p.Ser479* cLOF/cLOF M 20-39 24 1 1 0 French
Bennouna-Greene et al. 2011 GRKW 01.08.12 BBS9 p.Arg278*/deletion of exon 9 cLOF/cLOF M 10-19 17 1 1 0 French
Bennouna-Greene et al. 2011 42P3 1.14.23 BBS9 deletion of exons 8 and 9/deletion of exons 8 and 9 cLOF/cLOF M 20-39 22 0 1 1 French
Gerth et al. 2008 QWKB 2293 BBS1 p.Met390Arg/p.Asn524del MS/MS M 20-39 21 1 1 0 0 1 Canada
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