Items: 501 - 525 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
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Scheidecker et al. 2015 3J2E Case3 BBS10 p.Arg95Ser/p.Val707* MS/cLOF F 20-39 25 1 1 1 0 1 0 French
Khan et al. 2013 38GY A IV-6 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 32 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 NG8A Case5 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 40+ 54 1 1 1 0 1 0 French
Khan et al. 2013 38GY A IV-7 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 20-39 26 1 1 1 0 0 0 0 Pakistani
Scheidecker et al. 2015 NG8A Case6 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 20-39 36 1 1 1 0 1 French
Khan et al. 2013 38GY A V-2 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 19 1 1 1 0 0 0 0 Pakistani
Khan et al. 2013 38GY A V-3 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS F 10-19 16 1 1 1 0 0 0 Pakistani
Khan et al. 2013 38GY A V-4 BBS3 p.Ile94Thr/p.Ile94Thr MS/MS M 10-19 12 1 0 1 0 0 0 Pakistani
Scheidecker et al. 2015 8ODK Case7 BBS6 p.Met1Ile/p.Tyr37Cys MS/MS M 20-39 36 1 1 1 0 0 1 French
Ece Solmaz et al. 2015 COR8 13 BBS9 c.102_112+2delAAATGGACAAGGT/c.102_112+2delAAATGGACAAGGT p.Asn35*/p.Asn35* cLOF/cLOF 0-9 0,6 0 1 1 0 0 0 0 0 0 Turkish
Laurier et al. 2006 00OK E1 BBS10 p.Ser311Ala/p.Val11Gly MS/MS M 40+ 70 1 1 1 0 0 Lebanese
Estrada-Cuzcano et al. 2012 (a) EOHE 1/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 0 0 0 Netherland
Estrada-Cuzcano et al. 2012 (a) 53FP 10/Fc BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 1 0 0 0 0 0 0 French
Estrada-Cuzcano et al. 2012 (a) ONMF 11/M BBS1 p.Met390Arg/p.Met390Arg MS/MS M 1 0 0 0 0 1 0 0 Italian
Lim et al. 2014 NA 1 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Badano et al. 2003 NKEI AR768-03 BBS1 p.Met390Arg/frameshift - deletion in exon 16 MS/cLOF F 0-9 9 1 0 0 1 Northern European
Estrada-Cuzcano et al. 2012 (a) HQVO 13/F BBS1 p.Met390Arg/p.Arg268Pro MS/MS F 1 1 1 0 0 0 0 0 Netherland
Lim et al. 2014 NA 2 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Lim et al. 2014 NA 3 BBS10 c.1189A>G/c.1189A>G p.Ile397Val/p.Ile397Val MS/MS 0 1 0 0 0 European
Estrada-Cuzcano et al. 2012 (a) Q71J 2/M BBS1 p.Met390Arg/p.Leu388Pro MS/MS M 1 0 0 0 0 0 0 0 French
Ullah et al. 2017 VYZR B IV-2 BBS7 c.1592_1597delTTCCAG/c.1592_1597delTTCCAG 6bp del/6bp del MS/MS M 10-19 17 1 0 1 0 1 0 Pakistani
Estrada-Cuzcano et al. 2012 (a) 3VCU 3/Fa BBS1 p.Met390Arg/p.Met390Arg MS/MS F 1 0 0 0 0 0 0 0 Italian
Badano et al. 2003 V1PO PB009-05 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 37 1 1 0 Northern European
Estrada-Cuzcano et al. 2012 (a) XZ97 4/M BBS1 p.Met390Arg/p.Cys377Trpfs*36 MS/cLOF M 1 0 0 0 0 1 0 0 Netherland
Badano et al. 2003 8BCA PB061-03 BBS2 p.Arg275*/p.Arg275* cLOF/cLOF F 20-39 20 0 0 0 Northern European