Items: 826 - 850 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
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Notes
Shaheen et al. 2016 AYAU F-122 188 BBS14 c.3190del/c.3190del p.Met1064*/p.Met1064* cLOF/cLOF 1 Saudi Arabian
Castro-Sanchez et al. 2015 POGM M79 (1608)§ BBS6 p.Gly250Arg/p.Gly250Arg MS/MS F 20-39 36 1 1 1 1 1 1 0 Spanish
Janssen et al. 2011 K1J5 AR122 (A2831)d -4 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 0 1 1 1 N. European
Shaheen et al. 2016 42YK F-155 223 BBS14 c.4714G>T/c.4714G>T p.Glu1572*/p.Glu1572* cLOF/cLOF 1 0 1 Saudi Arabian
Castro-Sanchez et al. 2017 LDBP Case 2 BBS2 c.565C>T/c.565C>T p.Arg189*/p.Arg189* cLOF/cLOF F 10-19 14 1 1 1 1 1 0 1 Spanish
Janssen et al. 2011 YNNI AR603 (A2858) -3 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 1 1 0 1 N. European
Shaheen et al. 2016 P78N F-162 233 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Castro-Sanchez et al. 2017 UY2P Case 3 BBS2 c.1932T>A/c.1932T>A p.Tyr644*/p.Tyr644* cLOF/cLOF M 0-9 6 1 1 1 0 0 Spanish
Janssen et al. 2011 YNNI AR603 (A2858)-5 BBS1 c.436C>T/c.1169T>G p.Arg146*/p.Met390Arg cLOF/MS 1 1 1 N. European
Shaheen et al. 2016 E36R F-171 244 BBS14 c.5824C>T/c.5824C>T p.Gln1942*/p.Gln1942* cLOF/cLOF 1 1 Saudi Arabian
Cox et al. 2012 AZ4J PT1 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 27 1 1 1 1 0 1 USA
Janssen et al. 2011 JOFV AR61 (A2826) -4 BBS1 c.223_224delCT/c.1169T>G p.Leu75fs*23/p.Met390Arg cLOF/MS 1 1 0 1 0 0 N. European
Shaheen et al. 2016 0YU0 F-172 245 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 1 Saudi Arabian
Cox et al. 2012 D2VE PT2 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 10-19 15 1 1 1 0 0 0 USA
Janssen et al. 2011 JOFV AR61 (A2826)-5 BBS1 c.223_224delCT/c.616T>G p.Leu75fs*23/p.Leu206Val MS/cLOF 1 1 1 1 0 0 N. European
Shaheen et al. 2016 0YU0 F-172 246 BBS14 c.5704G>T/c.5704G>T p.Glu1902*/p.Glu1902* cLOF/cLOF 1 Saudi Arabian
Cox et al. 2012 PZDS PT3 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 10-19 15 1 1 1 0 0 0 USA
Janssen et al. 2011 X0N3 PB206 (A2024) 0 BBS1 c.IVS5-1G>C/c.IVS5-1G>C splice/splice cLOF/cLOF 1 1 1 1 1 1 Turkish
Shaheen et al. 2016 OPSI F-179 254 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian
Davies et al. 2018 C4MF BBS001 BBS1 p.Met390Arg/p.Met390Arg MS/MS F 20-39 30-39 1 1 0 1 0 0 0 White European
Janssen et al. 2011 OTUQ A3185 0 BBS10 c.687delA/c.271_272insT p.Pro229fs*8/p.Cys91fs*5 cLOF/cLOF 1 1 1 1 1 USA
Shaheen et al. 2016 INH9 F-192 275 BBS14 c.4811G>A/c.4811G>A p.Trp1604*/p.Trp1604* cLOF/cLOF 1 0 1 Saudi Arabian
Davies et al. 2018 PAQG BBS002 BBS1 p.Met390Arg/p.Met390Arg MS/MS M 40+ 60+ 1 1 1 1 0 0 0 White European
Janssen et al. 2011 N3GL AR151 (A2834) -4 BBS10 c.271_272insT/c.1676_1677insA p.Cys91fs*5/p.Tyr559fs*1 cLOF/cLOF 1 1 1 1 0 1 N. European
Shaheen et al. 2016 M87Y F-198 281 BBS14 c.5668G>T/c.5668G>T p.Gly1890*/p.Gly1890* cLOF/cLOF 1 1 Saudi Arabian