Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Sato, 2016 Case report/Case series 2 A 50% 38(+/-7) c.(171+1_172-1)_(412+1_413-1)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.
p.Arg275Trp
+ c.413-16409_534+27042delinsATGCCTGTAA: 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
p.Asn52Metfs*29
+ c.8-23204_172-3140del: 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.
Chen, 2016 Family study 2 A 50% 15(+/-10) p.Gly284Arg: hom
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 c.(7+1_8-1)_(618+1_619-1)del
+ p.Cys253Tyr: comp. het.
Oczkowska, 2015 Mutational screen 1 n.a. n.a. n.a. p.Arg275Trp
+ p.Glu310Asp: comp. het.
Al-Mubarak, 2015 Mutational screen 9 n.a. 78% 34(+/-11) p.Thr240Ala: het
p.Gln178*: hom
p.Thr240Met
+ c.171+50347_413-21490del: comp. het.
c.172-70365_413-16061del: hom
c.735-74079_871+19735del: hom
c.171+53980_534+4116del: hom
 Show more (+3)
Guo, 2015 Mutational screen 7 A n.a. n.a. c.(1167+1_1168-1)_(1285+1_1286-1)del
+ c.(1285+1_1286-1)_(*2679_?)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.(7+1_8-1)_(618+1_619-1)del
 Show more (+4) + c.(?_-103-1)_(7+1_8-1)del: comp. het.
Tijero, 2015 Mutational screen 14 n.a. 50% n.a. c.(412+1_413-1)_(534+1_535-1)del
+ p.Gln34Argfs*5: comp. het.
p.Asp18Valfs*26
+ c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Asn52Metfs*29: hom
p.Cys352Tyr: het
 Show more (+2)
Moll, 2015 Case report/Case series 1 C 0% 35 c.(?_-103-1)_(7+1_8-1)del
+ p.Arg275Trp: comp. het.
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