Items: 551 - 575 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
Shaheen et al. 2016 NI0T F-19-27 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 NI0T F-19-28 BBS9 c.263C>A/c.263C>A p.Ser88*/p.Ser88* cLOF/cLOF 1 1 Saudi Arabian
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
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
Shaheen et al. 2016 3MZE F-2-2 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Shaheen et al. 2016 3MZE F-2-3 BBS5 c.532G>A/c.532G>A p.Gly178Arg/p.Gly178Arg MS/MS 1 1 1 Saudi Arabian
Shaheen et al. 2016 UY8C F-20-29 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
Shaheen et al. 2016 UY8C F-20-30 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian
Shaheen et al. 2016 ZKT1 F-209 293 BBS20 c.4630C>T/c.4630C>T p.Arg1544Cys/p.Arg1544Cys MS/MS 1 1 Saudi Arabian
Shaheen et al. 2016 N49S F-21-31 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 N49S F-21-32 BBS12 c.2041_2049del/c.2041_2049del p.Leu682_Leu684del/p.Leu682_Leu684del MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 6TP3 F-22-33 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 6TP3 F-22-34 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Shaheen et al. 2016 6TP3 F-22-35 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 6TP3 F-22-36 BBS12 c.787dup/c.787dup p.Tyr263Leufs*4/p.Tyr263Leufs*4 cLOF/cLOF 1 1 0 1 Saudi Arabian
Shaheen et al. 2016 RSZT F-221 307 BBS10 c.959_962delGTTA/c.959_962delGTTA p.Ser320Ilefs*5/p.Ser320Ilefs*5 cLOF/cLOF 1 1 Saudi Arabian
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
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
Shaheen et al. 2016 QT17 F-25-41 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 QT17 F-25-42 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 QT17 F-25-43 BBS5 c.966dup/c.966dup p.Ala323Cysfs*57/p.Ala323Cysfs*57 cLOF/cLOF 1 0 1 1 1 Saudi Arabian
Shaheen et al. 2016 XJQC F-27-46 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 XJQC F-27-47 BBS19 c.296G>A/c.296G>A p.Cys99Tyr/p.Cys99Tyr MS/MS 1 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 D9R5 F-28-48 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 D9R5 F-28-49 BBS6 c.1646T>C/c.1646T>C p.Leu549Pro/p.Leu549Pro MS/MS 1 1 1 1 1 1 Saudi Arabian