Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Ben-Shachar, 2017Family studynone9Bn.g.34 (+/-8)p.Pro37Leu: hom
p.Cys332*: hom
p.Gln34Argfs*10: hom
c.(412+1_413-1)_(534+1_535-1)del + p.Gln34Argfs*10: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom

Show more (+2)
Uchihara, 2017Case report / Case seriesnone1n.g.n.g.33c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Isaacs, 2017Sib pair studynone1n.g.n.g.12p.Pro113Thrfs*51 + c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Taghavi, 2017Mutational screennone40n.g.n.g.25 (+/-9)c.535-104014_618+24033delTGAGTGATGCCTins: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
p.Thr414Profs*20: hom
p.Arg42Pro: hom
c.(171+1_172-1)_(871+1_872-1)del: hom
c.(534+1_535-1)_(871+1_872-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del: hom

Show more (+9)
Spataro, 2017Mutational screennone7Cn.g.41 (+/-15)c.8-54_171+49del: hom
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.
p.Gln34Argfs*5 + c.172-50_734+49del: comp. het.
p.Asn52Metfs*29 + c.8-54_534+49del: comp. het.
p.Thr415Asn + p.Asn52Metfs*29: comp. het.
c.172-50_412+113dup: hom

Show more (+4)
De Rosa, 2017Other / Mixednone4Cn.g.33 (+/-11)c.(534+1_535-1)_(618+1_619-1)del + p.Cys253Tyr: 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
Sato, 2016Case report / Case seriesnone2An.g.38 (+/-7)c.(171+1_172-1)_(412+1_413-1)del: hom
Morais, 2016Mutational screennone39Cn.g.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.
c.413-10504_534+408delins20 + p.Arg366Gln: 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 + p.Asn52Metfs*29: comp. het.
c.412+25822_535-71707delinsTGA + p.Asn52Metfs*29: comp. het.
c.172-16570_734+51279del + p.Asn52Metfs*29: comp. het.
c.412+2768_734+92226del + p.Asn52Metfs*29: comp. het.
c.735-21670_1083+48265delinsATG + p.Asn52Metfs*29: comp. het.
p.Arg275Trp + p.Asn52Metfs*29: comp. het.
c.1286-3C>G + p.Glu344Serfs*91: comp. het.
p.Leu358Argfs*77: hom
c.172-52958_734+8943del + p.Thr415Asn: comp. het.

Show more (+19)
Chen, 2016Family studynone2An.g.15 (+/-10)p.Gly284Arg: hom
Anderson-Mooney, 2016Case report / Case seriesnone2n.g.n.g.n.g.p.Cys253Tyr + p.Arg275Trp: comp. het.
Genç, 2016Case report / Case seriesnone1Bn.g.10c.(7+1_8-1)_(618+1_619-1)del + p.Cys253Tyr: comp. het.
Oczkowska, 2015Mutational screennone1n.g.n.g.n.g.p.Arg275Trp + p.Glu310Asp: comp. het.
Al-Mubarak, 2015Mutational screennone7n.g.n.g.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, 2015Mutational screennone7An.g.n.g.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 + c.(7+1_8-1)_(171+1_172-1)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 + c.(?_-103-1)_(7+1_8-1)del: comp. het.

Show more (+4)
Tijero, 2015Mutational screennone14n.g.n.g.n.g.c.(412+1_413-1)_(534+1_535-1)del + p.Gln34Argfs*5: comp. het.
c.(?_-103-1)_(7+1_8-1)del + p.Asp18Valfs*26: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Asn52Metfs*29: hom
p.Cys352Tyr: het

Show more (+2)
Moll, 2015Case report / Case seriesnone1Cn.g.35p.Arg275Trp + c.(?_-103-1)_(7+1_8-1)del: comp. het.
Ambroziak, 2015Mutational screennone7n.g.n.g.29 (+/-4)p.Cys446Phe + c.172-16728_412+422del: comp. het.
p.Gln34Argfs*5 + c.172-87670_534+27499del: comp. het.
p.Gln34Argfs*5 + c.413-4730_871+63575del: comp. het.
c.172-131341_412-33982delinsTTACGTATTAAACAAACATTACATT + c.413-4730_871+63575del: comp. het.
p.Lys211Asn + c.8-224652_618+32307dupinvAAGATTTins: comp. het.

Show more (+2)
Cornejo-Olivas, 2015Other / Mixednone1n.g.n.g.15c.619-1G>A + c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Domingos, 2015Case report / Case seriesnone1n.g.n.g.37c.(412+1_413-1)_(534+1_535-1)del: hom
Fiala, 2014Mutational screen<401n.g.n.g.n.g.c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: het
Kim, 2014Case report / Case seriesnone1An.g.10c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del: het
Chu, 2014Mutational screen<558An.g.23 (+/-14)p.Leu226Phefs*8 + p.Gly284Arg: 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.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(?_-103-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)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 + c.(734+1_735-1)_(871+1_872-1)dup: comp. het.

Show more (+5)
Li, 2014Family studynone3An.g.33 (+/-2)p.Gly284Arg + p.Arg275Trp: comp. het.
Karkheiran, 2014Family studynone6n.g.n.g.22 (+/-6)c.(534+1_535-1)_(618+1_619-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del: het
c.(171+1_172-1)_(412+1_413-1)[3]: hom
Monroy-Jaramillo, 2014Mutational screen<4510Hn.g.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.(618+1_619-1)_(*2679_?)del + c.(?_-103-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(1167+1_1168-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(1167+1_1168-1)del + c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?)dup + c.(933+1_934-1)_(1167+1_1168-1)del: comp. het.

Show more (+7)
Elia, 2014Other / Mixednone8n.g.n.g.29 (+/-14)p.Cys212Tyr: hom
p.Pro437Leu + p.Lys211Asn: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + p.Arg275Trp: comp. het.
c.(618+1_619-1)_(871+1_872-1)del + p.Arg275Trp: comp. het.
c.(?_-103-1)_(7+1_8-1)del + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup + c.(7+1_8-1)_(534+1_535-1)del: comp. het.

Show more (+4)
Sharp, 2014Case report / Case seriesnone3Cn.g.n.g.p.Pro113Thrfs*51 + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Koziorowski, 2013Mutational screen<455n.g.n.g.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.Gln34Argfs*5 + c.(412+1_413-1)_(871+1_872-1)del: comp. het.
p.Lys211Asn + c.(7+1_8-1)_(618+1_619-1)dup: comp. het.

Show more (+2)
Darvish, 2013Mutational screennone38B, On.g.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 + c.(7+1_8-1)_(171+1_172-1)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 + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del + 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, 2013Mutational screennone5n.g.n.g.24 (+/-11)p.Arg275Trp + p.Gly430Asp: comp. het.
p.Gln34Argfs*5: hom
p.Arg156Serfs*29 + p.Pro113Thrfs*51: comp. het.
c.(618+1_619-1)_(734+1_735-1)dup + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom

Show more (+2)
Wang, 2013Mutational screennone5Cn.g.27 (+/-11)c.(734+1_735-1)_(1083+1_1084-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
Doherty, 2013Case report / Case seriesnone7n.g.n.g.34 (+/-8)p.Pro113Thrfs*51 + p.Gly430Asp: comp. het.
p.Pro113Thrfs*51 + p.Arg275Trp: comp. het.
p.Gly430Asp + p.Arg275Trp: comp. het.
c.(618+1_619-1)_(734+1_735-1)del + p.Arg275Trp: comp. het.
Miyakawa, 2013Case report / Case seriesnone1An.g.61c.(7+1_8-1)_(534+1_535-1)del: hom
de Mena, 2013Mutational screen<5016n.g.n.g.30 (+/-9)p.Trp445*: hom
p.Cys212Tyr: hom
p.Gln34Argfs*5 + p.Cys212Tyr: comp. het.
p.Asn52Metfs*29 + p.Arg275Trp: 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* + p.Asn52Metfs*29: comp. het.
p.Pro202Leu + p.Asn52Metfs*29: comp. het.
c.1286-3C>G + p.Cys154Phefs*23: comp. het.

Show more (+7)
Koentjoro, 2012Family studynone2n.g.n.g.18c.(534+1_535-1)_(871+1_872-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Guerrero Camacho, 2012Other / Mixed<4524Hn.g.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 + c.(412+1_413-1)_(534+1_535-1)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.(933+1_934-1)_(1167+1_1168-1)del + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(1083+1_1084-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(1167+1_1168-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(933+1_934-1)_(*2679_?)del + c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del + c.(933+1_934-1)_(1167+1_1168-1)del: comp. het.
c.(1285+1_1286-1)_(*2679_?))del + c.(171+1_172-1)_(933+1_934-1)dup: comp. het.
p.Asn52Metfs*29: hom

Show more (+13)
Ruffmann, 2012Case report / Case seriesnone2n.g.n.g.n.g.c.(171+1_172-1)_(412+1_413-1)del + p.Arg275Trp: comp. het.
Moura, 2012Mutational screen<501n.g.n.g.46c.(171+1_172-1)_(412+1_413-1)dup + c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Funayama, 2012Family studynone1An.g.15c.(171+1_172-1)_(618+1_619-1)del + c.(171+1_172-1)_(871+1_872-1)dup: comp. het.
Haylett, 2012Mutational screennone4C, Dn.g.39 (+/-15)c.(412+1_413-1)_(534+1_535-1)del + p.Gly430Asp: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + p.Pro113Thrfs*51: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup + c.(7+1_8-1)_(734+1_735-1)dup: comp. het.
Elfferich, 2011Mutational screennone12n.g.n.g.35 (+/-12)c.172-5243_412+18307del + c.8-61987_171+4006del: comp. het.
c.734+61166_871+2877dupinsTGCAATT + c.8-48180_171+84346del: comp. het.
p.Gln34Argfs*5 + c.172-4427_413-6108del: comp. het.
p.Arg275Trp + c.172-4427_413-6108del: comp. het.
c.734+61166_871+2877dupinsTGCAATT + c.413-26603_534+367del27092ins28: comp. het.
c.734+61166_871+2877dupinsTGCAATT + c.534+17825_735-64158del: comp. het.
c.171+11347_618+17328del395200 + c.1-17782_7+123791del: comp. het.
p.Arg275Trp + c.8-51502_172-33560dupinsT: comp. het.

Show more (+5)
Hassin-Baer, 2011Family studynone12Bn.g.26 (+/-10)p.Gln34Argfs*10: hom
Ghazavi, 2011Mutational screennone7n.g.n.g.26 (+/-6)p.Cys441Arg + p.Arg42Pro: 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, 2011Other / Mixednone5An.g.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
Guo, 2011Mutational screen<509An.g.31 (+/-7)c.(7+1_8-1)_(171+1_172-1)del: hom
p.Gln34Argfs*5 + c.(7+1_8-1)_(171+1_172-1)del: 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.8-39T>G + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del + c.(7+1_8-1)_(412+1_413-1)del: comp. het.

Show more (+5)
Johansen, 2011Mutational screennone2n.g.n.g.34 (+/-2)c.(534+1_535-1)_(618+1_619-1)del: hom
Kay, 2010Mutational screennone16H, O, n.g.n.g.32 (+/-12)p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: hom
p.Pro113Thrfs*51 + c.(7+1_8-1)_(171+1_172-1)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.(618+1_619-1)_(734+1_735-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
p.Pro113Thrfs*51 + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gly430Asp + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Pro113Thrfs*51 + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Arg275Trp + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)dup + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
p.Arg275Trp + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Arg275Trp + c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
p.Gln34Argfs*5 + c.(7+1_8-1)_(534+1_535-1)dup: comp. het.
p.Gly430Asp + p.Pro113Thrfs*51 + c.(7+1_8-1)_(618+1_619-1)dup: comp. het.

Show more (+12)
Zhang, 2010Mutational screen<499An.g.24 (+/-10)c.(618+1_619-1)_(734+1_735-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(734+1_735-1)_(1083+1_1084-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
p.Met1? + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Gly284Arg + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(871+1_872-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)dup: hom

Show more (+5)
Keyser, 2010Mutational screen<502Dn.g.45c.(933+1_934-1)_(1083+1_1084-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Hanagasi, 2009Other / Mixednone2n.g.n.g.37c.1084-1delG: hom
Sammler, 2009Case report / Case seriesnone1n.g.n.g.24p.Pro113Thrfs*51 + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Limousin, 2009Other / Mixednone11n.g.n.g.27 (+/-9)c.(171+1_172-1)_(412+1_413-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Asn52Metfs*29 + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Cys441Arg + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Arg275Trp + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + c.(?_-103-1)_(7+1_8-1)del: comp. het.
p.Asn52Metfs*29 + c.(618+1_619-1)_(734+1_735-1)dup: comp. het.

Show more (+4)
Pankratz, 2009Mutational screennone27C, H, Dn.g.41 (+/-14)c.(534+1_535-1)_(618+1_619-1)del + p.Met192Val: comp. het.
c.(618+1_619-1)_(734+1_735-1)del + p.Glu79*: comp. het.
c.(7+1_8-1)_(534+1_535-1)[3] + p.Gly430Asp: 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 + p.Pro113Thrfs*51: comp. het.
c.(412+1_413-1)_(734+1_735-1)del + p.Pro113Thrfs*51: comp. het.
c.(534+1_535-1)_(734+1_735-1)del + p.Thr240Met: comp. het.
p.Pro437Leu: hom
c.(7+1_8-1)_(412+1_413-1)del + p.Lys211Asn: comp. het.
p.Pro437Leu + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + p.Arg275Trp: comp. het.
c.1083+1delG + p.Arg275Trp: 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 + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(534+1_535-1)dup + c.(412+1_413-1)_(534+1_535-1)dup: comp. het.
p.Asn52Metfs*29: hom
c.(7+1_8-1)_(412+1_413-1)del + p.Asn52Metfs*29: comp. het.

Show more (+18)
Brooks, 2009Mutational screennone4Cn.g.32 (+/-7)p.Gln34Argfs*5 + p.Ala38Valfs*6: comp. het.
p.Arg275Trp + p.Gln171*: comp. het.
p.Pro113Thrfs*51: hom
p.Gln34Argfs*5 + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Camargos, 2009Mutational screennone2n.g.n.g.31 (+/-13)p.Thr240Met + p.Asn52Metfs*29: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup + p.Pro281Arg: comp. het.
Lee, 2009Mutational screen<492n.g.n.g.27 (+/-5)p.Cys441Arg + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
Amboni, 2009Case report / Case seriesnone1n.g.n.g.3c.(7+1_8-1)_(534+1_535-1)del + p.Thr240Met: comp. het.
Macedo, 2009Mutational screen<505n.g.n.g.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, 2009Family studynone4n.g.n.g.30p.Trp445*: hom
Reetz, 2009Other / Mixednone6n.g.n.g.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.(933+1_934-1)_(1083+1_1084-1)del + c.(734+1_735-1)_(871+1_872-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.

Show more (+2)
Bardien, 2009Mutational screennone3C, On.g.27 (+/-0)c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Mellick, 2009Mutational screen<501n.g.n.g.30p.Gly430Asp: hom
Myhre, 2008Family studynone2n.g.n.g.32 (+/-0)c.(412+1_413-1)_(534+1_535-1)del: hom
Guo, 2008Other / Mixednone18An.g.25 (+/-5)c.(7+1_8-1)_(171+1_172-1)del + p.Cys323_Val324del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + p.Gln34Argfs*5: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Cys253Phe + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: het
p.Cys441Arg + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom

Show more (+7)
Choi, 2008Mutational screen<502An.g.19 (+/-8)c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
Funayama, 2008Other / Mixednone5An.g.17 (+/-3)p.Ala138Glyfs*7 + p.Cys441Arg: comp. het.
p.Thr175Profs*2: hom
Sironi, 2008Other / Mixed<4014n.g.n.g.31 (+/-8)c.(171+1_172-1)_(412+1_413-1)dup + p.Cys238Trp: comp. het.
p.Glu409*: hom
c.(7+1_8-1)_(171+1_172-1)dup + p.Thr240Met: comp. het.
p.Cys253Tyr: hom
c.(534+1_535-1)_(734+1_735-1)del + p.Arg275Trp: comp. het.
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.
p.Arg42Pro + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom

Show more (+6)
Aguiar, 2008Mutational screen<504n.g.n.g.26 (+/-12)c.1286-3C>G: hom
p.Lys211Asn: hom
c.(171+1_172-1)_(412+1_413-1)del: het
Moro, 2008Mutational screen<455n.g.n.g.28 (+/-11)p.Gln34Argfs*10: hom
c.(871+1_872-1)_(933+1_934-1)dup + c.(7+1_8-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(1083+1_1084-1)del: hom
Kobayashi, 2008Sib pair studynone2An.g.38 (+/-0)c.(412+1_413-1)_(534+1_535-1)del: hom
Chung, 2008Other / Mixednone1n.g.n.g.16c.(?_-103-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Bras, 2008Mutational screennone5Cn.g.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, 2008Mutational screen<453An.g.27 (+/-9)c.(734+1_735-1)_(871+1_872-1)del + p.Asp460Glyfs*8: comp. het.
c.(618+1_619-1)_(734+1_735-1)del: hom
Dafotakis, 2008Case report / Case seriesnone1n.g.n.g.38c.(412+1_413-1)_(618+1_619-1)del: hom
Deng, 2008Family studynone2Cn.g.39 (+/-1)c.(171+1_172-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Lesage, 2008Mutational screennone6Cn.g.18 (+/-4)p.Cys289Gly: hom
p.Gln34Argfs*5 + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
p.Gln34Argfs*5 + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Arg75Glufs*22 + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Asn52Metfs*29 + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Arg275Trp + c.(171+1_172-1)_(734+1_735-1)del: comp. het.

Show more (+3)
Deng, 2007Other / Mixednone2n.g.n.g.32 (+/-6)c.(534+1_535-1)_(618+1_619-1)del + c.(171+1_172-1)_(734+1_735-1)del: comp. het.
Pellecchia, 2007Family studynone2n.g.n.g.32 (+/-6)p.Arg42Pro: hom
Lesage, 2007Mutational screennone1Cn.g.28c.(?_-103-1)_(7+1_8-1)del: hom
Pineda-Trujillo, 2006Mutational screennone5n.g.n.g.28 (+/-5)p.Cys212Tyr: hom
p.Val56Glu + p.Cys212Tyr: comp. het.
Gaig, 2006Other / Mixednone1n.g.n.g.44c.(7+1_8-1)_(171+1_172-1)del: hom
Chung, 2006Mutational screennone3An.g.23 (+/-14)c.(734+1_735-1)_(871+1_872-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(1167+1_1168-1)_(1285+1_1286-1)dup + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Biswas, 2006Mutational screennone2n.g.n.g.31 (+/-0)c.(171+1_172-1)_(534+1_535-1)del: hom
Sun, 2006Family study<5324n.g.n.g.39 (+/-13)p.Gly430Asp: hom
p.Pro113Thrfs*51 + p.Pro437Leu + p.Gly430Asp: comp. het.
c.(7+1_8-1)_(171+1_172-1)del: hom
p.Arg275Trp + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Asn52Metfs*29 + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Cys253Tyr + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
p.Arg275Trp + 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.(933+1_934-1)_(1083+1_1084-1)dup + c.(?_-103-1)_(7+1_8-1)dup: comp. het.

Show more (+9)
Hertz, 2006Mutational screen<402n.g.n.g.33 (+/-4)p.Arg234Gln + p.Arg33Gln: comp. het.
c.(1167+1_1168-1)_(1285+1_1286-1)del: hom
Clark, 2006Mutational screen<501Cn.g.38p.Pro113Thrfs*51: hom
Nakaso, 2006Family studynone2An.g.49 (+/-4)c.(171+1_172-1)_(618+1_619-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
De Rosa, 2006Other / Mixednone4n.g.n.g.32 (+/-12)c.(7+1_8-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Deng, 2006Other / Mixednone4n.g.n.g.35 (+/-3)p.Thr240Met + c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Chien, 2006Other / Mixed>1810Cn.g.31 (+/-10)c.7+1G>T: hom
Madegowda, 2005Mutational screen<503In.g.39 (+/-6)p.Thr240Met: hom
c.(871+1_872-1)_(1083+1_1084-1)del: hom
Ohsawa, 2005Other / Mixed<599An.g.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
Klein, 2005Mutational screen<511n.g.n.g.40p.Arg275Trp + p.Lys211Asn: comp. het.
Mata, 2005Family studynone2n.g.n.g.44 (+/-4)c.(7+1_8-1)_(534+1_535-1)[3]: hom
Clarimon, 2005Family studynone4JOn.g.24 (+/-10)c.(412+1_413-1)_(734+1_735-1)del: hom
Shyu, 2005Other / Mixed<5420An.g.43 (+/-9)c.(7+1_8-1)_(171+1_172-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(734+1_735-1)_(871+1_872-1)del: hom
c.(871+1_872-1)_(933+1_934-1)del: hom
c.(1083+1_1084-1)_(*2679_?)del: hom
c.(7+1_8-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(?_-103-1)_(7+1_8-1)del: hom

Show more (+6)
Romito, 2005Other / Mixednone1n.g.n.g.45p.Asp243Asn + c.(?_-103-1)_(7+1_8-1)dup: comp. het.
Poorkaj, 2005Mutational screen8-892n.g.n.g.12 (+/-5)c.(171+1_172-1)_(412+1_413-1)del + p.Pro113Thrfs*51: comp. het.
Wu, 2005Other / Mixed<492An.g.34 (+/-3)p.Gly284Arg + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Khan, 2005Family studynone5n.g.n.g.28 (+/-9)c.(412+1_413-1)_(534+1_535-1)del: hom
Bertoli-Avella, 2005Other / Mixednone22n.g.n.g.27 (+/-9)c.(171+1_172-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Thr415Asn + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Cys418Arg + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.535-49422_619-12906del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
p.Arg42Pro + c.(618+1_619-1)_(734+1_735-1)del: 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 + c.(171+1_172-1)_(534+1_535-1)del: 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 (+11)
Kumru, 2004Other / Mixednone8n.g.n.g.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)
Capecci, 2004Case report / Case seriesnone1n.g.n.g.22c.(171+1_172-1)_(412+1_413-1)del: hom
Sasaki, 2004Case report / Case seriesnone1n.g.n.g.33c.(171+1_172-1)_(412+1_413-1)del: hom
Poorkaj, 2004Mutational screen<403Cn.g.20 (+/-15)c.(171+1_172-1)_(412+1_413-1)del + p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Dogu, 2004Other / Mixednone3n.g.n.g.27 (+/-10)c.(412+1_413-1)_(534+1_535-1)del: hom
Wiley, 2004Mutational screen<603n.g.n.g.32 (+/-9)p.Arg275Trp + p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup + p.Pro113Thrfs*51: comp. het.
c.618+17A>C + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Djarmati, 2004Mutational screennone1n.g.n.g.41p.Pro437Leu + c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Kunishige, 2004Case report / Case seriesnone2An.g.34 (+/-21)c.(171+1_172-1)_(534+1_535-1)del: hom
Hedrich, 2004Mutational screennone3n.g.n.g.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, 2003Mutational screennone9n.g.n.g.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, 2003Mutational screen<556n.g.n.g.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.
p.Arg275Trp + c.(171+1_172-1)_(734+1_735-1)del: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29 + c.(618+1_619-1)_(734+1_735-1)dup: comp. het.
p.Asn52Metfs*29: hom

Show more (+3)
Illarioshkin, 2003Family study<303n.g.n.g.17 (+/-6)c.7+1G>A + p.Gln34Argfs*5: comp. het.
c.(734+1_735-1)_(871+1_872-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del: hom
Okuma, 2003Case report / Case seriesnone1An.g.38c.(534+1_535-1)_(618+1_619-1)del: hom
Gouider-Khouja, 2003Family studynone3n.g.n.g.26 (+/-7)p.Gln34Argfs*5: hom
Lincoln, 2003Other / Mixednone7n.g.n.g.28 (+/-8)p.Pro113Thrfs*51: hom
p.Arg275Trp + p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup + p.Pro113Thrfs*51: comp. het.
Khan, 2003Other / Mixed<499n.g.n.g.23 (+/-8)c.(171+1_172-1)_(412+1_413-1)del + p.Gly430Asp: comp. het.
p.Gln34Argfs*5: hom
p.Gln34Argfs*5 + p.Cys268*: comp. het.
p.Gly430Asp + p.Arg275Trp: comp. het.
c.(534+1_535-1)_(734+1_735-1)del + p.Arg275Trp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.618+2T>A + c.(618+1_619-1)_(871+1_872-1)del: comp. het.

Show more (+4)
Periquet, 2003Mutational screen<459C, n.g.n.g.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 + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
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.
p.Arg275Trp + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Thr240Met + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
p.Arg275Trp + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del + c.(7+1_8-1)_(534+1_535-1)dup: comp. het.

Show more (+6)
Thobois, 2003Other / Mixed<4418n.g.n.g.27 (+/-9)p.Gln34Argfs*5: hom
p.Trp74Cysfs*8: hom
c.(171+1_172-1)_(412+1_413-1)del + p.Arg275Trp: comp. het.
p.Cys289Gly: 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)_(412+1_413-1)del: hom
p.Met1? + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Asn52Metfs*29 + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Asn52Metfs*29 + 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
c.(534+1_535-1)_(618+1_619-1)del + p.Cys441Arg: comp. het.

Show more (+10)
Oliveira, 2003Other / Mixednone17n.g.n.g.33 (+/-13)c.1083+5G>T + p.Arg33Gln: comp. het.
p.Gln34Argfs*5: hom
p.Pro113Thrfs*51: hom
p.Gly430Asp + p.Pro113Thrfs*51: comp. het.
p.Pro437Leu + p.Arg275Trp: comp. het.
p.Cys253Tyr + p.Pro437Leu + p.Arg275Trp: comp. het.

Show more (+3)
Kim, 2003Family studynone2An.g.41 (+/-4)c.(412+1_413-1)_(534+1_535-1)del: hom
Rawal, 2003Mutational screen<4511n.g.n.g.33 (+/-12)p.Trp445*: hom
p.Pro437Leu: het
p.Arg275Trp: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Asn428Lysfs*141 + 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 + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(618+1_619-1)del: hom
p.Asn52Metfs*29 + c.(171+1_172-1)_(734+1_735-1)del: comp. het.
c.872-1G>C + c.(412+1_413-1)_(871+1_872-1)del: comp. het.

Show more (+7)
Kobayashi, 2003Family studynone8An.g.29 (+/-10)c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
Morales, 2002Case report / Case seriesnone3n.g.n.g.n.g.p.Val56Glu + p.Cys212Tyr: comp. het.
Muñoz, 2002Mutational screen<407n.g.n.g.31 (+/-7)p.Ala291Leufs*6: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29: hom
Khan, 2002Family studynone4n.g.n.g.30 (+/-2)c.618+2T>A + c.(871+1_872-1)_(933+1_934-1)del: comp. het.
Wu, 2002Family studynone3An.g.28 (+/-8)c.(412+1_413-1)_(534+1_535-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Nichols, 2002Sib pair studynone23n.g.n.g.38 (+/-8)c.(412+1_413-1)_(734+1_735-1)del + p.Pro113Thrfs*51: comp. het.
c.(7+1_8-1)_(412+1_413-1)dup + p.Lys211Asn: comp. het.
p.Pro437Leu + p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + p.Arg275Trp: 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, 2002Family studynone11n.g.n.g.31 (+/-3)p.Val56Glu + p.Cys212Tyr: 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
Hedrich, 2002Mutational screen<493n.g.n.g.19 (+/-7)c.(412+1_413-1)_(534+1_535-1)del + p.Arg42Pro: comp. het.
p.Arg275Trp + p.Pro113Thrfs*51: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + p.Asn52Metfs*29: comp. het.
Hilker, 2002Mutational screennone5n.g.n.g.n.g.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, 2002Other / Mixednone1n.g.n.g.29p.Arg275Trp + c.(734+1_735-1)_(871+1_872-1)dup: comp. het.
Alvarez, 2001Other / Mixednone3n.g.n.g.22 (+/-2)p.Arg392Serfs*3: hom
Bonifati, 2001Other / Mixednone2n.g.n.g.33 (+/-3)c.(171+1_172-1)_(1083+1_1084-1)del + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
Farrer, 2001Other / Mixed<404Cn.g.33 (+/-11)p.Arg275Trp + p.Pro113Thrfs*51: comp. het.
c.619-46243_734+71252dup + p.Pro113Thrfs*51: comp. het.
Lücking, 2001Family studynone2n.g.n.g.44 (+/-18)c.(7+1_8-1)_(171+1_172-1)[3] + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(171+1_172-1)[3]: hom
Hedrich, 2001Mutational screen<495n.g.n.g.31 (+/-11)c.(412+1_413-1)_(534+1_535-1)dup: het
p.Val324Alafs*111: hom
c.(534+1_535-1)_(618+1_619-1)del + c.(7+1_8-1)_(171+1_172-1)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)
Kuroda, 2001Family studynone3An.g.36 (+/-2)c.(171+1_172-1)_(534+1_535-1)del: hom
Portman, 2001Sib pair studynone2JOn.g.28 (+/-2)c.(412+1_413-1)_(734+1_735-1)del: hom
Jeon, 2001Case report / Case seriesnone1An.g.12c.(412+1_413-1)_(534+1_535-1)del: hom
Nisipeanu, 2001Family studynone6Bn.g.30 (+/-7)p.Gln34Argfs*10: hom
van de Warrenburg, 2001Family studynone3n.g.n.g.31 (+/-12)p.Lys211Asn + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Terreni, 2001Mutational screennone3n.g.n.g.41 (+/-12)p.Arg42Pro: hom
Lu, 2001Other / Mixednone2n.g.n.g.29 (+/-5)c.(171+1_172-1)_(412+1_413-1)del: hom
Ujike, 2001Mutational screennone4An.g.29 (+/-5)c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
Pineda-Trujillo, 2001Other / Mixednone9n.g.n.g.27 (+/-12)p.Trp74Cysfs*8: hom
p.Cys212Tyr: hom
Hayashi, 2000Family studynone4An.g.33 (+/-5)c.(412+1_413-1)_(534+1_535-1)del: hom
Maruyama, 2000Family studynone17An.g.25 (+/-9)p.Arg33*: hom
p.Cys431Phe: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Cys431Phe + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del + 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, 2000Other / Mixednone1n.g.n.g.20p.Ala291Leufs*6: hom
Klein, 2000Family studynone5Cn.g.49 (+/-12)p.Val324Alafs*111 + c.(734+1_735-1)_(871+1_872-1)del: comp. het.
Lücking, 2000Mutational screen<458n.g.n.g.23 (+/-12)p.Cys289Gly: hom
c.(171+1_172-1)_(412+1_413-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(?_-103-1)_(7+1_8-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Met1?: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Glu409* + c.(734+1_735-1)_(1083+1_1084-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del + p.Asn52Metfs*29: comp. het.

Show more (+4)
, 2000Mutational screennone4An.g.42 (+/-7)c.(171+1_172-1)_(412+1_413-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(618+1_619-1)del: hom
Nisipeanu, 1999Family studynone3JOn.g.35 (+/-4)c.(171+1_172-1)_(412+1_413-1)del: hom
Abbas, 1999Family studynone19n.g.n.g.40 (+/-8)p.Thr415Asn: hom
p.Trp453*: hom
p.Lys161Asn + p.Gln34Argfs*5: comp. het.
p.Trp74Cysfs*8: hom
c.(?_-103-1)_(7+1_8-1)del + p.Arg275Trp: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29: hom

Show more (+4)
Leroy, 1998Family studynone2n.g.n.g.15 (+/-3)c.(534+1_535-1)_(871+1_872-1)del: hom
Lücking, 1998Family study<448n.g.n.g.30 (+/-16)c.(171+1_172-1)_(412+1_413-1)del: hom
c.(871+1_872-1)_(1083+1_1084-1)del: hom
Hattori, 1998Mutational screennone2n.g.n.g.24 (+/-16)p.Thr240Arg: hom
p.Gln311*: hom
Kitada, 1998Family studynone3An.g.23 (+/-6)c.(412+1_413-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(871+1_872-1)del: hom