Items: 851 - 875 from 899
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Source
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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
Castro-Sanchez et al. 2015 DJ2Y M622-(708)§ BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 73 1 1 1 0 Spanish
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
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
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
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 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
Shaheen et al. 2016 HP63 F-47-82 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 U1ZZ RP1378 (24)‡ BBS1 p.Met390Arg/p.Asp278fs*9 MS/cLOF F 20-39 34 1 1 0 0 0 Spanish
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
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
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
Castro-Sanchez et al. 2015 40IX RP1568 (504) BBS1 p.Met390Arg/p.Met390Arg MS/MS F 40+ 50 1 1 1 0 Spanish
Shaheen et al. 2016 5M4H F-48-86 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 WQ0L F-67-124 BBS1 c.951+58C>T/c.951+58C>T p.Gly318Valfs*61/p.Gly318Valfs*61 cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 09XV F-81-143 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 09XV F-81-144 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 1 1 1 Saudi Arabian
Shaheen et al. 2016 JBBQ F-82-146 BBS1 r.1232_3423del/r.1232_3423del deletion/deletion cLOF/cLOF 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 HDIC F-36-60 BBS10 c.931T>G/c.931T>G p.Ser311Ala/p.Ser311Ala MS/MS 1 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 SPQD F-37-61 BBS10 c.1892_1896del/c.1892_1896del p.Met631Asnfs*3/p.Met631Asnfs*3 cLOF/cLOF 1 1 Saudi Arabian
Shaheen et al. 2016 DVJA F-79-141 BBS10 c.924G>T/c.924G>T p.Leu308Phe/p.Leu308Phe MS/MS 1 1 1 Saudi Arabian