Items: 801 - 825 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
Chaki et al. 2011 HIJ9 F101-21 BBS14 c.5163del1/c.1066-1G>A p.Thr1721fs*3/splice cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 DNA0 F-14-20 BBS1 c.831-3C>G/c.1285C>T p.Arg429*/p.Arg429* cLOF/cLOF 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 YWEP M732-(804) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 51 1 1 1 1 Spanish
Chaki et al. 2011 51M2 F15-21 BBS14 c.5649_5650insA/c.5850del1 p.Leu1884fs*23/p.Phe1950fs*15 cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 ANYX F-17-24 BBS1 c.1424dupT/c.1424dupT p.Ser476Glufs*25/p.Ser476Glufs*25 cLOF/cLOF 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 IRUP RP1054 (249)§ BBS1 p.Met390Arg/p.Glu549* MS/cLOF F 20-39 29 1 0 1 0 0 0 0 Spanish
Chaki et al. 2011 51M2 F15-24 BBS14 c.5649_5650insA/c.5850del2 p.Leu1884fs*23/p.Phe1950fs*15 cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 YTIO F-23-37 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 VS17 RP1193 (747) BBS1 p.Met390Arg/p.Arg146* MS/cLOF M 20-39 34 1 1 0 1 0 Spanish
Chaki et al. 2011 2XE6 F335-21 BBS14 c.2915T>C/c.2915T>C p.Leu972Pro/p.Leu972Pro MS/MS 1 0 1 0 NA
Shaheen et al. 2016 YTIO F-23-38 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 CXPA RP1322 (1168) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 47 1 0 1 1 0 1 Spanish
Chaki et al. 2011 TMOJ F394-27 BBS14 c.5668G>T/c.5668G>T p.Gly1890* /p.Gly1890* cLOF/cLOF 0 1 1 0 NA
Shaheen et al. 2016 HP63 F-47-81 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 CXPA RP1322 (1169) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 43 1 0 1 1 0 1 Spanish
Chaki et al. 2011 G914 F4-21 BBS14 c.2218-4_2222del9/c.2218-4_2222del9 splice/splice cLOF/cLOF 1 0 1 0 NA
Castro-Sanchez et al. 2015 U1ZZ RP1378 (24)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF F 20-39 34 1 1 0 0 0 Spanish
Chaki et al. 2011 G914 F4-22 BBS14 c.2218-4_2222del10/c.2218-4_2222del10 splice/splice cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 HP63 F-47-83 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 U1ZZ RP1378 (858)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF M 40+ 41 1 1 1 0 Spanish
Chaki et al. 2011 C8Q4 F57-21 BBS14 c.1A>G/c.1419_1423del5 start codon defect/p.Lys473fs*6 cLOF/cLOF 1 0 1 0 NA
Shaheen et al. 2016 HP63 F-47-84 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 0 1 1 Saudi Arabian
Castro-Sanchez et al. 2015 40IX RP1568 (502) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 54 1 1 1 0 Spanish
Chaki et al. 2011 3DQF F63-21 BBS14 c.4656del1/c.5668G>T p.Lys1552fs*5/p.Gly1890* cLOF/cLOF 1 1 1 0 NA
Shaheen et al. 2016 HP63 F-47-85 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian