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Overview of included studies for PARK-Parkin:
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carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
De Rosa, 2017 Other/Mixed 4 C 75% 33(+/-11) p.Cys253Tyr
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(7+1_8-1)_(171+1_172-1)del
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Morais, 2016 Mutational screen 39 C n.a. 30(+/-11) p.Arg275Trp: hom
p.Arg42Pro: hom
c.8-51491_172-56018del
+ p.Arg42Pro: comp. het.
c.413-16409_534+27042delinsATGCCTGTAA
+ p.Arg275Trp: comp. het.
p.Arg366Gln
+ c.413-10504_534+408delins20: comp. het.
c.1084-3859_1167+1618del: hom
c.413-3460_534+30928del: hom
c.413-27055_534+20428del: hom
c.171+67708_734+58232delins28: hom
c.413-18966_871+72957delinsA: hom
c.534+457_734+41025del: hom
p.Asn52Metfs*29: hom
c.8-23204_172-3140del
+ p.Asn52Metfs*29: comp. het.
c.172-11910_413-22473delinsAT: comp. het.
c.412+25822_535-71707delinsTGA: comp. het.
c.172-16570_734+51279del: comp. het.
c.412+2768_734+92226del: comp. het.
c.735-21670_1083+48265delinsATG: comp. het.
c.1286-3C>G
+ p.Glu344Serfs*91: comp. het.
p.Leu358Argfs*77: hom
c.172-52958_734+8943del
Show more (+18) + p.Thr415Asn: comp. het.
Anderson-Mooney, 2016 Case report/Case series 2 n.a. 0% n.a. p.Arg275Trp
+ p.Cys253Tyr: comp. het.
Genç, 2016 Case report/Case series 1 B 0% 10 p.Cys253Tyr
+ c.(7+1_8-1)_(618+1_619-1)del: comp. het.
Oczkowska, 2015 Mutational screen 1 n.a. n.a. n.a. p.Arg275Trp
+ p.Glu310Asp: comp. het.
Al-Mubarak, 2015 Mutational screen 7 n.a. 71% 34(+/-12) p.Gln178*: hom
c.171+50347_413-21490del
+ p.Thr240Met: comp. het.
c.172-70365_413-16061del: hom
c.735-74079_871+19735del: hom
c.171+53980_534+4116del: hom
Show more (+2)
Guo, 2015 Mutational screen 7 A n.a. n.a. c.(1285+1_1286-1)_(*2679_?)del
+ c.(1167+1_1168-1)_(1285+1_1286-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(534+1_535-1)_(734+1_735-1)del
+ c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del
+ c.(412+1_413-1)_(618+1_619-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del
Show more (+4) + c.(7+1_8-1)_(618+1_619-1)del: comp. het.
Tijero, 2015 Mutational screen 14 n.a. 50% n.a. p.Gln34Argfs*5
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del
+ p.Asp18Valfs*26: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Asn52Metfs*29: hom
p.Cys352Tyr: het
Show more (+2)
Fiala, 2014 Mutational screen 1 n.a. n.a. n.a. c.(7+1_8-1)_(412+1_413-1)del: het
c.(412+1_413-1)_(534+1_535-1)del: hom
Chu, 2014 Mutational screen 8 A 38% 23(+/-14) p.Gly284Arg
+ p.Leu226Phefs*8: comp. het.
c.(1083+1_1084-1)_(1167+1_1168-1)del: hom
c.(1167+1_1168-1)_(1285+1_1286-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ c.(?_-103-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(871+1_872-1)_(1167+1_1168-1)del
+ c.(734+1_735-1)_(1167+1_1168-1)del: comp. het.
p.Gln34Argfs*5
Show more (+5) + c.(734+1_735-1)_(871+1_872-1)dup: comp. het.
Li, 2014 Family study 3 A 67% 33(+/-2) p.Gly284Arg
+ p.Arg275Trp: comp. het.
Monroy-Jaramillo, 2014 Mutational screen 10 H 20% 37(+/-6) c.(1083+1_1084-1)_(1167+1_1168-1)del: hom
c.(1285+1_1286-1)_(*2679_?)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(1083+1_1084-1)_(*2679_?)del
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(933+1_934-1)_(1083+1_1084-1)del: hom
c.(?_-103-1)_(534+1_535-1)del
+ c.(618+1_619-1)_(*2679_?)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ c.(933+1_934-1)_(1167+1_1168-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?)dup: comp. het.
Show more (+7)
Elia, 2014 Other/Mixed 8 n.a. n.a. 29(+/-14) p.Cys212Tyr: hom
p.Pro437Leu
+ p.Lys211Asn: comp. het.
p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
Show more (+4) + c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
Koziorowski, 2013 Mutational screen 5 n.a. 20% 30(+/-5) p.Gln34Argfs*5: hom
c.(412+1_413-1)_(871+1_872-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gln34Argfs*5
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Lys211Asn
Show more (+1) + c.(7+1_8-1)_(618+1_619-1)dup: comp. het.
Darvish, 2013 Mutational screen 38 n.a. n.a. 25(+/-5) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(7+1_8-1)_(*2679_?)del: hom
c.(?_-103-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(7+1_8-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(618+1_619-1)del: hom
Show more (+6)
Angeli, 2013 Mutational screen 5 n.a. n.a. 24(+/-11) p.Gly430Asp
+ p.Arg275Trp: comp. het.
p.Gln34Argfs*5: hom
p.Pro113Thrfs*51
+ p.Arg156Serfs*29: comp. het.
c.(618+1_619-1)_(734+1_735-1)dup: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Show more (+2)
Doherty, 2013 Case report/Case series 7 n.a. 43% 34(+/-8) p.Gly430Asp
+ p.Pro113Thrfs*51: comp. het.
p.Arg275Trp: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
de Mena, 2013 Mutational screen 16 n.a. n.a. 30(+/-9) p.Trp445*: hom
p.Cys212Tyr: hom
p.Gln34Argfs*5
+ p.Cys212Tyr: comp. het.
p.Arg275Trp
+ p.Asn52Metfs*29: comp. het.
p.Thr240Met
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Arg392Serfs*3: hom
p.Asn52Metfs*29: hom
p.Trp445*: comp. het.
p.Pro202Leu: comp. het.
p.Cys154Phefs*23
Show more (+7) + c.1286-3C>G: comp. het.
Guerrero Camacho, 2012 Other/Mixed 24 H 50% 39(+/-7) c.(1285+1_1286-1)_(*2679_?)del: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(933+1_934-1)_(1167+1_1168-1)del
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(171+1_172-1)_(933+1_934-1)dup: comp. het.
p.Asn52Metfs*29: hom
Show more (+10)
Ruffmann, 2012 Case report/Case series 2 n.a. n.a. n.a. p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Haylett, 2012 Mutational screen 4 n.a. n.a. 39(+/-15) c.(412+1_413-1)_(534+1_535-1)del
+ p.Gly430Asp: comp. het.
p.Pro113Thrfs*51
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(7+1_8-1)_(734+1_735-1)dup
+ c.(534+1_535-1)_(618+1_619-1)dup: comp. het.
Hassin-Baer, 2011 Family study 12 B 67% 26(+/-10) p.Gln34Argfs*10: hom
Ghazavi, 2011 Mutational screen 7 n.a. 86% 26(+/-6) p.Arg42Pro
+ p.Cys441Arg: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ p.Thr240Met: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
c.1083+1G>A: hom
Show more (+3)
Yoritaka, 2011 Other/Mixed 5 A 80% 41(+/-14) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del: hom
Show more (+1)
Guo, 2011 Mutational screen 9 A 89% 31(+/-7) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del
+ p.Gln34Argfs*5: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Cys238Alafs*21
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del
+ c.8-39T>G: comp. het.
c.(534+1_535-1)_(618+1_619-1)del
Show more (+5) + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
Kay, 2010 Mutational screen 16 n.a. 69% 32(+/-12) p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del
+ p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: comp. het.
p.Gly430Asp
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Arg275Trp: comp. het.
c.(7+1_8-1)_(534+1_535-1)dup
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
p.Gln34Argfs*5: comp. het.
c.(7+1_8-1)_(618+1_619-1)dup: comp. het.
Show more (+10)
Pankratz, 2009 Mutational screen 27 n.a. n.a. 41(+/-14) c.(534+1_535-1)_(618+1_619-1)del
+ p.Met192Val: comp. het.
p.Glu79*
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
p.Gly430Asp
+ c.(7+1_8-1)_(534+1_535-1)[3]: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+ c.1083+5G>T
+ p.Arg33Gln: comp. het.
p.Gln34Argfs*5: hom
p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(734+1_735-1)del: comp. het.
c.(534+1_535-1)_(734+1_735-1)del
+ p.Thr240Met: comp. het.
p.Pro437Leu: hom
p.Lys211Asn: comp. het.
p.Arg275Trp
+ p.Pro437Leu: comp. het.
c.1083+1delG: comp. het.
c.(871+1_872-1)_(933+1_934-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)dup
+ c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
p.Asn52Metfs*29: hom
p.Asn52Metfs*29: comp. het.
Show more (+16)
Brooks, 2009 Mutational screen 4 C n.a. 32(+/-7) p.Ala38Valfs*6
+ p.Gln34Argfs*5: comp. het.
p.Arg275Trp
+ p.Gln171*: comp. het.
p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Show more (+1)
Amboni, 2009 Case report/Case series 1 n.a. 100% 3 c.(7+1_8-1)_(534+1_535-1)del
+ p.Thr240Met: comp. het.
Macedo, 2009 Mutational screen 5 n.a. 60% 35(+/-12) p.Arg42Pro: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)dup
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(1083+1_1084-1)_(*2679_?)dup: hom
Show more (+2)
Infante, 2009 Family study 4 n.a. 75% 30 p.Trp445*: hom
Reetz, 2009 Other/Mixed 6 n.a. 83% 40(+/-17) p.Val324Alafs*111: hom
c.(734+1_735-1)_(871+1_872-1)del
+ p.Val324Alafs*111: comp. het.
p.Arg275Trp
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del
Show more (+2) + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.
Mellick, 2009 Mutational screen 1 n.a. 0% 30 p.Gly430Asp: hom
Guo, 2008 Other/Mixed 18 A n.a. 25(+/-5) c.(7+1_8-1)_(171+1_172-1)del
+ p.Cys323_Val324del: comp. het.
p.Gln34Argfs*5
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Cys253Phe: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: het
p.Cys441Arg: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Show more (+5)
Funayama, 2008 Other/Mixed 5 A 40% 17(+/-3) p.Ala138Glyfs*7
+ p.Cys441Arg: comp. het.
p.Thr175Profs*2: hom
Sironi, 2008 Other/Mixed 14 n.a. 50% 31(+/-8) p.Cys238Trp
+ c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
p.Glu409*: hom
c.(7+1_8-1)_(171+1_172-1)dup
+ p.Thr240Met: comp. het.
p.Cys253Tyr: hom
p.Arg275Trp
+ c.(534+1_535-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del
+ p.Arg42Pro: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Show more (+6)
Aguiar, 2008 Mutational screen 4 n.a. n.a. 26(+/-12) c.1286-3C>G: hom
c.(171+1_172-1)_(412+1_413-1)del: het
p.Lys211Asn: hom
Moro, 2008 Mutational screen 5 n.a. 40% 28(+/-11) p.Gln34Argfs*10: hom
c.(7+1_8-1)_(618+1_619-1)del
+ c.(871+1_872-1)_(933+1_934-1)dup: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(1083+1_1084-1)del: hom
Show more (+1)
Bras, 2008 Mutational screen 5 C n.a. 35(+/-12) c.(933+1_934-1)_(1083+1_1084-1)dup
+ p.Glu395*: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
p.Asn52Metfs*29: hom
Chan, 2008 Mutational screen 3 A 0% 27(+/-9) p.Asp460Glyfs*8
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: hom
Lesage, 2008 Mutational screen 6 C 67% 18(+/-4) p.Cys289Gly: hom
c.(7+1_8-1)_(171+1_172-1)del
+ p.Gln34Argfs*5: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Arg75Glufs*22: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ p.Asn52Metfs*29: comp. het.
c.(171+1_172-1)_(734+1_735-1)del
Show more (+3) + p.Arg275Trp: comp. het.
Pellecchia, 2007 Family study 2 n.a. 50% 32(+/-6) p.Arg42Pro: hom
Pineda-Trujillo, 2006 Mutational screen 5 n.a. 80% 28(+/-5) p.Cys212Tyr: hom
p.Cys212Tyr
+ p.Val56Glu: comp. het.
Sun, 2006 Family study 24 n.a. n.a. 39(+/-13) p.Gly430Asp: hom
p.Pro113Thrfs*51
+ p.Gly430Asp
+ p.Pro437Leu: comp. het.
c.(7+1_8-1)_(171+1_172-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Arg275Trp: comp. het.
p.Asn52Metfs*29: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
+ p.Cys253Tyr: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(734+1_735-1)_(933+1_934-1)del: comp. het.
c.(618+1_619-1)_(933+1_934-1)dup: hom
c.(1285+1_1286-1)_(*2679_?)dup: het
c.(?_-103-1)_(7+1_8-1)dup: hom
c.(?_-103-1)_(7+1_8-1)dup
Show more (+9) + c.(933+1_934-1)_(1083+1_1084-1)dup: comp. het.
Hertz, 2006 Mutational screen 2 n.a. 0% 33(+/-4) p.Arg33Gln
+ p.Arg234Gln: comp. het.
c.(1167+1_1168-1)_(1285+1_1286-1)del: hom
Clark, 2006 Mutational screen 1 C n.a. 38 p.Pro113Thrfs*51: hom
Madegowda, 2005 Mutational screen 3 I 33% 39(+/-6) p.Thr240Met: hom
c.(871+1_872-1)_(1083+1_1084-1)del: hom
Ohsawa, 2005 Other/Mixed 9 A 44% 37(+/-11) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Poorkaj, 2005 Mutational screen 2 n.a. 0% 12(+/-5) c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
Bertoli-Avella, 2005 Other/Mixed 22 n.a. n.a. 27(+/-9) c.(7+1_8-1)_(171+1_172-1)del
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del
+ p.Thr415Asn: comp. het.
p.Cys418Arg: comp. het.
c.535-49422_619-12906del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del
+ p.Arg42Pro: comp. het.
c.(871+1_872-1)_(933+1_934-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: hom
c.1286-3C>G: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del: hom
c.872-60873_1167+2393del: hom
Show more (+10)
Kumru, 2004 Other/Mixed 8 n.a. 63% 31(+/-7) p.Pro113Thrfs*51: hom
p.Ala291Leufs*6: hom
c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(618+1_619-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29: hom
Show more (+4)
Poorkaj, 2004 Mutational screen 3 C 33% 20(+/-15) c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Wiley, 2004 Mutational screen 3 n.a. 67% 32(+/-9) p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
c.618+17A>C
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Hedrich, 2004 Mutational screen 3 n.a. 33% 25(+/-9) p.Arg275Trp: hom
p.Arg275Trp
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Pro113Thrfs*51
+ p.Asn52Metfs*29: comp. het.
Lincoln, 2003 Mutational screen 9 n.a. 89% 61(+/-10) p.Gln34Argfs*5: hom
p.Arg256Cys: hom
p.Arg275Trp: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(734+1_735-1)_(871+1_872-1)dup: hom
Show more (+3)
Lohmann, 2003 Mutational screen 6 n.a. n.a. 24(+/-6) p.Gln34Argfs*5: hom
c.(734+1_735-1)_(871+1_872-1)dup
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(734+1_735-1)del
+ p.Arg275Trp: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)dup
+ p.Asn52Metfs*29: comp. het.
p.Asn52Metfs*29: hom
Show more (+3)
Illarioshkin, 2003 Family study 3 n.a. 67% 17(+/-6) p.Gln34Argfs*5
+ c.7+1G>A: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ c.(734+1_735-1)_(871+1_872-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: hom
Gouider-Khouja, 2003 Family study 3 n.a. 33% 26(+/-7) p.Gln34Argfs*5: hom
Lincoln, 2003 Other/Mixed 7 n.a. 71% 28(+/-8) p.Pro113Thrfs*51: hom
p.Arg275Trp
+ p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
Khan, 2003 Other/Mixed 9 n.a. 67% 23(+/-8) c.(171+1_172-1)_(412+1_413-1)del
+ p.Gly430Asp: comp. het.
p.Gln34Argfs*5: hom
p.Cys268*
+ p.Gln34Argfs*5: comp. het.
p.Arg275Trp: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del
Show more (+4) + c.618+2T>A: comp. het.
Periquet, 2003 Mutational screen 9 n.a. 71% 28(+/-12) p.Arg275Trp: hom
c.(171+1_172-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Arg275Trp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
+ p.Thr240Met: comp. het.
c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
Show more (+5)
Thobois, 2003 Other/Mixed 18 n.a. 39% 27(+/-9) p.Gln34Argfs*5: hom
p.Trp74Cysfs*8: hom
p.Arg275Trp
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Cys289Gly: hom
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Met1?: comp. het.
p.Asn52Metfs*29
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(871+1_872-1)_(1083+1_1084-1)del: hom
c.(7+1_8-1)_(534+1_535-1)dup: hom
p.Asn52Metfs*29: hom
p.Cys441Arg: comp. het.
Show more (+10)
Oliveira, 2003 Other/Mixed 17 n.a. n.a. 33(+/-13) p.Arg33Gln
+ c.1083+5G>T: comp. het.
p.Gln34Argfs*5: hom
p.Pro113Thrfs*51: hom
p.Pro113Thrfs*51
+ p.Gly430Asp: comp. het.
p.Arg275Trp
+ p.Pro437Leu: comp. het.
p.Cys253Tyr: comp. het.
Show more (+3)
Rawal, 2003 Mutational screen 11 n.a. n.a. 33(+/-12) p.Trp445*: hom
p.Pro437Leu: het
p.Arg275Trp: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del
+ p.Asn428Lysfs*141: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(618+1_619-1)del: hom
c.(171+1_172-1)_(734+1_735-1)del: comp. het.
c.(412+1_413-1)_(871+1_872-1)del
Show more (+7) + c.872-1G>C: comp. het.
Morales, 2002 Case report/Case series 3 n.a. 100% n.a. p.Val56Glu
+ p.Cys212Tyr: comp. het.
Muñoz, 2002 Mutational screen 7 n.a. 14% 31(+/-7) p.Ala291Leufs*6: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29: hom
Nichols, 2002 Sib pair study 23 n.a. n.a. 38(+/-8) p.Pro113Thrfs*51
+ c.(412+1_413-1)_(734+1_735-1)del: comp. het.
p.Lys211Asn
+ c.(7+1_8-1)_(412+1_413-1)dup: comp. het.
p.Arg275Trp
+ p.Pro437Leu: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(871+1_872-1)_(933+1_934-1)del
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29: hom
Show more (+5)
Hoenicka, 2002 Family study 11 n.a. 73% 31(+/-3) p.Cys212Tyr
+ p.Val56Glu: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
p.Asn52Metfs*29: hom
Show more (+1)
Hedrich, 2002 Mutational screen 3 n.a. n.a. 19(+/-7) c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg42Pro: comp. het.
p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
p.Asn52Metfs*29
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Hilker, 2002 Mutational screen 5 n.a. n.a. n.a. c.(618+1_619-1)_(734+1_735-1)del
+ p.Val324Alafs*111: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: hom
p.Val324Alafs*111: hom
Pramstaller, 2002 Other/Mixed 1 n.a. 0% 29 p.Arg275Trp
+ c.(734+1_735-1)_(871+1_872-1)dup: comp. het.
Farrer, 2001 Other/Mixed 4 C 100% 33(+/-11) p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
c.619-46243_734+71252dup: comp. het.
Hedrich, 2001 Mutational screen 5 n.a. 80% 31(+/-11) c.(412+1_413-1)_(534+1_535-1)dup: het
p.Val324Alafs*111: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Lys349Serfs*20
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
Show more (+2)
Nisipeanu, 2001 Family study 6 B 83% 30(+/-7) p.Gln34Argfs*10: hom
Terreni, 2001 Mutational screen 3 n.a. 33% 41(+/-12) p.Arg42Pro: hom
Pineda-Trujillo, 2001 Other/Mixed 9 n.a. 44% 27(+/-12) p.Trp74Cysfs*8: hom
p.Cys212Tyr: hom
Maruyama, 2000 Family study 17 A 47% 25(+/-9) p.Arg33*: hom
p.Cys431Phe: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Cys431Phe: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(618+1_619-1)_(871+1_872-1)del: hom
Show more (+4)
Muñoz, 2000 Other/Mixed 1 n.a. 0% 20 p.Ala291Leufs*6: hom
Abbas, 1999 Family study 19 n.a. 53% 40(+/-8) p.Thr415Asn: hom
p.Trp453*: hom
p.Lys161Asn
+ p.Gln34Argfs*5: comp. het.
p.Trp74Cysfs*8: hom
p.Arg275Trp
+ c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29: hom
Show more (+4)
Hattori, 1998 Mutational screen 2 n.a. 0% 24(+/-16) p.Thr240Arg: hom
p.Gln311*: hom