MDSGene

Overview of included studies for PARK-Parkin:

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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
González-Casacuberta, 2019	Other/Mixed	5	C	60%	29(+/-7)	c.(7+1_8-1)_(534+1_535-1)del: hom c.(534+1_535-1)_(734+1_735-1)del: hom c.(618+1_619-1)_(734+1_735-1)del: n.a. c.(7+1_8-1)_(171+1_172-1)dup: het c.(171+1_172-1)_(412+1_413-1)del: hom c.(871+1_872-1)_(933+1_934-1)del Show more (+3) + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
Fang, 2019	Case report/Case series	1	A	100%	26	c.(618+1_619-1)_(734+1_735-1)del + p.Gly284Arg: comp. het.
Trinh, 2019	Mutational screen	3	C	33%	20(+/-10)	c.(7+1_8-1)_(534+1_535-1)del + p.Arg275Trp: comp. het. c.(7+1_8-1)_(412+1_413-1)del + p.Gln34Argfs5: comp. het. c.(618+1_619-1)_(871+1_872-1)dup + p.Gln34Argfs10: comp. het.
Fadda, 2019	Mutational screen	1	n.a.	100%	17	c.(7+1_8-1)_(171+1_172-1)del + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
Bravo, 2018	Family study	2	C	0%	14(+/-5)	c.172-41049_412+2829del + p.Val3Glufs3: comp. het. c.412+16037_734+54332delinsATCTGATAAAGTCAG + p.Ala138Glyfs7: comp. het.
Jankovic, 2018	Mutational screen	5	C	60%	29(+/-11)	c.(171+1_172-1)_(412+1_413-1)del: het c.(7+1_8-1)_(171+1_172-1)del: hom c.(412+1_413-1)_(534+1_535-1)dup + c.(412+1_413-1)_(734+1_735-1)del: comp. het. c.(171+1_172-1)_(412+1_413-1)dup + p.Gln34Argfs*5: comp. het. p.Arg275Trp: comp. het. p.Val56Glu Show more (+3) + p.Cys253Tyr: comp. het.
Diez-Fairen, 2018	Mutational screen	6	C	67%	31(+/-20)	p.Cys212Tyr + p.Asn52Metfs29: comp. het. p.Trp445: comp. het. p.Arg275Trp: comp. het. c.(171+1_172-1)_(534+1_535-1)del: comp. het. p.Pro437Leu: comp. het. c.(412+1_413-1)_(534+1_535-1)dup Show more (+3) + p.Thr240Met: comp. het.
Shi, 2018	Family study	3	A	67%	25(+/-1)	c.619-1G>C + c.(?_-103-1)_(171+1_172-1)del: comp. het.
Bentley, 2018	Mutational screen	5	n.a.	50%	45(+/-13)	p.Gly430Asp: hom c.(412+1_413-1)_(534+1_535-1)del: hom p.Gln34Argfs*5: hom
Schormair, 2018	Mutational screen	1	C	100%	39	c.(171+1_172-1)_(534+1_535-1)del: hom
Petrucci, 2017	Case report/Case series	1	C	0%	45	c.(7+1_8-1)_(412+1_413-1)dup: hom
Gustavsson, 2017	Mutational screen	3	C	67%	36(+/-6)	c.(412+1_413-1)_(534+1_535-1)del: hom c.(412+1_413-1)_(534+1_535-1)del + p.Arg275Trp: comp. het. c.(171+1_172-1)_(534+1_535-1)del: hom
Bouhouche, 2017	Other/Mixed	3	B	100%	33(+/-14)	c.172-99350_871+11495del + c.172-83430_534+21281del: comp. het. c.934-20481_1083+134117del: hom c.619-46638_871+105513del: hom
Ben-Shachar, 2017	Family study	9	B	67%	34(+/-8)	p.Cys332: hom p.Pro37Leu: hom p.Gln34Argfs10: hom p.Gln34Argfs*10 + c.(412+1_413-1)_(534+1_535-1)del: comp. het. c.(412+1_413-1)_(534+1_535-1)del: hom Show more (+2)
Uchihara, 2017	Case report/Case series	1	n.a.	100%	33	c.(412+1_413-1)_(534+1_535-1)del + c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Isaacs, 2017	Sib pair study	1	n.a.	100%	12	c.(534+1_535-1)_(734+1_735-1)del + p.Pro113Thrfs*51: comp. het.
Taghavi, 2017	Other/Mixed	40	n.a.	60%	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)
Nonnekes, 2017	Case report/Case series	1	n.a.	100%	45	c.(618+1_619-1)_(734+1_735-1)dup + p.Cys332Arg: comp. het.
Spataro, 2017	Mutational screen	7	C	43%	41(+/-15)	c.8-54_171+49del: hom c.(171+1_172-1)_(534+1_535-1)del: hom c.(171+1_172-1)_(534+1_535-1)del + p.Asn52Metfs29: comp. het. p.Gln34Argfs5 + c.172-50_734+49del: comp. het. c.8-54_534+49del: comp. het. p.Thr415Asn: comp. het. c.172-50_412+113dup: hom Show more (+4)
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
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.Asn52Metfs29: hom p.Asn52Metfs29 + 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. p.Glu344Serfs91 + c.1286-3C>G: comp. het. p.Leu358Argfs77: hom p.Thr415Asn Show more (+18) + c.172-52958_734+8943del: 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.Glu310Asp + p.Arg275Trp: 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.(7+1_8-1)_(171+1_172-1)del + c.(171+1_172-1)_(412+1_413-1)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.Gln34Argfs5 + c.(412+1_413-1)_(534+1_535-1)del: comp. het. c.(?_-103-1)_(7+1_8-1)del + p.Asp18Valfs26: 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	p.Arg275Trp + c.(?_-103-1)_(7+1_8-1)del: comp. het.
Ambroziak, 2015	Mutational screen	7	n.a.	50%	29(+/-4)	c.172-16728_412+422del + p.Cys446Phe: comp. het. p.Gln34Argfs*5 + c.172-87670_534+27499del: comp. het. c.413-4730_871+63575del: comp. het. c.172-131341_412-33982delinsTTACGTATTAAACAAACATTACATT: comp. het. p.Lys211Asn Show more (+2) + c.8-224652_618+32307dupinvAAGATTTins: comp. het.
Cornejo-Olivas, 2015	Other/Mixed	1	n.a.	0%	15	c.(734+1_735-1)_(871+1_872-1)del + c.619-1G>A: comp. het.
Domingos, 2015	Case report/Case series	1	n.a.	100%	37	c.(412+1_413-1)_(534+1_535-1)del: hom
Fiala, 2014	Mutational screen	1	n.a.	n.a.	n.a.	c.(412+1_413-1)_(534+1_535-1)del: hom c.(7+1_8-1)_(412+1_413-1)del: het
Kim, 2014	Case report/Case series	1	A	100%	10	c.(7+1_8-1)_(171+1_172-1)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.Leu226Phefs8: 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.(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.(734+1_735-1)_(1167+1_1168-1)del + c.(871+1_872-1)_(1167+1_1168-1)del: comp. het. p.Gln34Argfs5 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.
Karkheiran, 2014	Family study	6	n.a.	83%	22(+/-6)	c.(534+1_535-1)_(618+1_619-1)del: hom c.(171+1_172-1)_(412+1_413-1)[3]: hom c.(933+1_934-1)_(1083+1_1084-1)del: 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.(412+1_413-1)_(534+1_535-1)del + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het. c.(734+1_735-1)_(871+1_872-1)del + c.(1083+1_1084-1)_(2679_?)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.(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.Lys211Asn + p.Pro437Leu: 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.(171+1_172-1)_(412+1_413-1)dup Show more (+4) + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
Sharp, 2014	Case report/Case series	3	C	n.a.	n.a.	c.(171+1_172-1)_(534+1_535-1)del + p.Pro113Thrfs*51: comp. het.
Koziorowski, 2013	Mutational screen	5	n.a.	20%	30(+/-5)	p.Gln34Argfs5: hom c.(171+1_172-1)_(412+1_413-1)del + c.(412+1_413-1)_(871+1_872-1)del: comp. het. p.Gln34Argfs5 + 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.Arg275Trp + p.Gly430Asp: comp. het. p.Gln34Argfs5: hom p.Arg156Serfs29 + p.Pro113Thrfs*51: 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)
Wang, 2013	Mutational screen	5	C	n.a.	27(+/-11)	c.(7+1_8-1)_(171+1_172-1)del + c.(734+1_735-1)_(1083+1_1084-1)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 Show more (+1) + c.(7+1_8-1)_(534+1_535-1)del: comp. het.
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.
Miyakawa, 2013	Case report/Case series	1	A	0%	61	c.(7+1_8-1)_(534+1_535-1)del: hom
de Mena, 2013	Mutational screen	16	n.a.	n.a.	30(+/-9)	p.Trp445: hom p.Cys212Tyr: hom p.Gln34Argfs5 + p.Cys212Tyr: comp. het. p.Asn52Metfs29 + p.Arg275Trp: comp. het. p.Thr240Met + c.(412+1_413-1)_(534+1_535-1)del: comp. het. p.Arg392Serfs3: hom p.Asn52Metfs29: hom p.Trp445: comp. het. p.Pro202Leu: comp. het. p.Cys154Phefs*23 Show more (+7) + c.1286-3C>G: comp. het.
Koentjoro, 2012	Family study	2	n.a.	0%	18	c.(7+1_8-1)_(171+1_172-1)del + c.(534+1_535-1)_(871+1_872-1)del: 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.(412+1_413-1)_(534+1_535-1)del + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het. c.(933+1_934-1)_(2679_?)del: comp. het. c.(534+1_535-1)_(618+1_619-1)del: hom c.(534+1_535-1)_(618+1_619-1)del + c.(933+1_934-1)_(1167+1_1168-1)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.Asn52Metfs29: hom Show more (+10)
Ruffmann, 2012	Case report/Case series	2	n.a.	n.a.	n.a.	c.(171+1_172-1)_(412+1_413-1)del + p.Arg275Trp: comp. het.
Moura, 2012	Mutational screen	1	n.a.	100%	46	c.(534+1_535-1)_(734+1_735-1)del + c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
Funayama, 2012	Family study	1	A	0%	15	c.(171+1_172-1)_(871+1_872-1)dup + c.(171+1_172-1)_(618+1_619-1)del: comp. het.
Haylett, 2012	Mutational screen	4	n.a.	n.a.	39(+/-15)	p.Gly430Asp + c.(412+1_413-1)_(534+1_535-1)del: 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, 2011	Mutational screen	12	n.a.	43%	35(+/-12)	c.8-61987_171+4006del + c.172-5243_412+18307del: comp. het. c.8-48180_171+84346del + c.734+61166_871+2877dupinsTGCAATT: comp. het. p.Gln34Argfs*5 + c.172-4427_413-6108del: comp. het. p.Arg275Trp: comp. het. c.413-26603_534+367del27092ins28: comp. het. c.534+17825_735-64158del: comp. het. c.171+11347_618+17328del395200 + c.1-17782_7+123791del: comp. het. c.8-51502_172-33560dupinsT: comp. het. Show more (+5)
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.Cys441Arg + p.Arg42Pro: comp. het. p.Thr240Met + c.(412+1_413-1)_(534+1_535-1)del: 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)
Pacelli, 2011	Family study	2	C	0%	33(+/-3)	c.(7+1_8-1)_(412+1_413-1)del + c.(171+1_172-1)_(412+1_413-1)del: comp. het. c.(7+1_8-1)_(412+1_413-1)del: het c.(171+1_172-1)_(412+1_413-1)del: n.a.
Guo, 2011	Mutational screen	6	A	100%	32(+/-7)	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 (+3) + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
Johansen, 2011	Mutational screen	2	n.a.	n.a.	34(+/-2)	c.(534+1_535-1)_(618+1_619-1)del: hom
Kay, 2010	Mutational screen	16	n.a.	69%	32(+/-12)	p.Pro113Thrfs51: hom c.(7+1_8-1)_(171+1_172-1)del: hom c.(7+1_8-1)_(171+1_172-1)del + p.Pro113Thrfs51: 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)
Zhang, 2010	Mutational screen	9	A	33%	24(+/-10)	c.(7+1_8-1)_(171+1_172-1)del + c.(618+1_619-1)_(734+1_735-1)del: comp. het. c.(734+1_735-1)_(1083+1_1084-1)del: comp. het. p.Met1? + c.(171+1_172-1)_(412+1_413-1)del: comp. het. p.Gly284Arg: 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)
Guo, 2010	Mutational screen	3	A	67%	28(+/-8)	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.(412+1_413-1)_(534+1_535-1)del: hom
Keyser, 2010	Mutational screen	2	D	50%	45	c.(7+1_8-1)_(171+1_172-1)del + c.(933+1_934-1)_(1083+1_1084-1)del: comp. het.
Hanagasi, 2009	Other/Mixed	2	n.a.	50%	37	c.1084-1delG: hom
Sammler, 2009	Case report/Case series	1	n.a.	100%	24	c.(171+1_172-1)_(534+1_535-1)del + p.Pro113Thrfs*51: comp. het.
Limousin, 2009	Other/Mixed	11	n.a.	27%	27(+/-9)	c.(171+1_172-1)_(412+1_413-1)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.(534+1_535-1)_(618+1_619-1)del + p.Asn52Metfs*29: comp. het. p.Cys441Arg: comp. het. p.Arg275Trp + c.(171+1_172-1)_(534+1_535-1)del: comp. het. c.(?_-103-1)_(7+1_8-1)del: comp. het. c.(618+1_619-1)_(734+1_735-1)dup: comp. het. Show more (+4)
Pankratz, 2009	Mutational screen	27	n.a.	n.a.	41(+/-14)	p.Met192Val + c.(534+1_535-1)_(618+1_619-1)del: comp. het. c.(618+1_619-1)_(734+1_735-1)del + p.Glu79: 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.Gln34Argfs5: hom p.Pro113Thrfs51: hom p.Pro113Thrfs51 + 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.(412+1_413-1)_(734+1_735-1)del: comp. het. p.Thr240Met + c.(534+1_535-1)_(734+1_735-1)del: comp. het. p.Pro437Leu: hom p.Lys211Asn: comp. het. p.Pro437Leu + p.Arg275Trp: 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.Asn52Metfs29: hom p.Asn52Metfs29: comp. het. Show more (+16)
Brooks, 2009	Mutational screen	4	C	n.a.	32(+/-7)	p.Gln34Argfs5 + p.Ala38Valfs6: comp. het. p.Gln171* + p.Arg275Trp: comp. het. p.Pro113Thrfs*51: hom c.(7+1_8-1)_(171+1_172-1)del: comp. het. Show more (+1)
Camargos, 2009	Mutational screen	2	n.a.	100%	31(+/-13)	p.Thr240Met + p.Asn52Metfs*29: comp. het. p.Pro281Arg + c.(534+1_535-1)_(618+1_619-1)dup: comp. het.
Lee, 2009	Mutational screen	2	n.a.	50%	27(+/-5)	c.(412+1_413-1)_(534+1_535-1)del + p.Cys441Arg: comp. het.
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 c.(171+1_172-1)_(412+1_413-1)del + p.Arg275Trp: comp. het. c.(412+1_413-1)_(534+1_535-1)del + c.(734+1_735-1)_(871+1_872-1)dup: 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.Val324Alafs111: hom p.Val324Alafs111 + c.(734+1_735-1)_(871+1_872-1)del: 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 Show more (+2) + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Bardien, 2009	Mutational screen	3	n.a.	n.a.	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, 2009	Mutational screen	1	n.a.	0%	30	p.Gly430Asp: hom
Myhre, 2008	Family study	2	n.a.	100%	32(+/-0)	c.(412+1_413-1)_(534+1_535-1)del: 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. c.(412+1_413-1)_(534+1_535-1)del + p.Gln34Argfs*5: 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: 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)
Choi, 2008	Mutational screen	2	A	n.a.	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, 2008	Other/Mixed	5	A	40%	17(+/-3)	p.Cys441Arg + p.Ala138Glyfs7: comp. het. p.Thr175Profs2: hom
Sironi, 2008	Other/Mixed	14	n.a.	50%	31(+/-8)	c.(171+1_172-1)_(412+1_413-1)dup + p.Cys238Trp: comp. het. p.Glu409*: hom p.Thr240Met + c.(7+1_8-1)_(171+1_172-1)dup: 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 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 p.Lys211Asn: hom c.(171+1_172-1)_(412+1_413-1)del: het
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)
Kobayashi, 2008	Sib pair study	2	A	50%	38(+/-0)	c.(412+1_413-1)_(534+1_535-1)del: hom
Chung, 2008	Other/Mixed	1	n.a.	100%	16	c.(171+1_172-1)_(412+1_413-1)del + c.(?_-103-1)_(534+1_535-1)del: comp. het.
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.Asn52Metfs29: hom
Chan, 2008	Mutational screen	3	A	0%	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, 2008	Case report/Case series	1	n.a.	100%	38	c.(412+1_413-1)_(618+1_619-1)del: hom
Deng, 2008	Family study	2	C	50%	39(+/-1)	c.(171+1_172-1)_(412+1_413-1)del + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Lesage, 2008	Mutational screen	6	C	67%	18(+/-4)	p.Cys289Gly: hom p.Gln34Argfs5 + c.(7+1_8-1)_(171+1_172-1)del: comp. het. c.(171+1_172-1)_(412+1_413-1)del: comp. het. p.Arg75Glufs22: comp. het. p.Asn52Metfs*29 + c.(171+1_172-1)_(534+1_535-1)del: comp. het. p.Arg275Trp Show more (+3) + c.(171+1_172-1)_(734+1_735-1)del: comp. het.
Deng, 2007	Other/Mixed	2	n.a.	0%	32(+/-6)	c.(171+1_172-1)_(734+1_735-1)del + c.(534+1_535-1)_(618+1_619-1)del: comp. het.
Pellecchia, 2007	Family study	2	n.a.	50%	32(+/-6)	p.Arg42Pro: hom
Lesage, 2007	Mutational screen	1	C	0%	28	c.(?_-103-1)_(7+1_8-1)del: hom
Pineda-Trujillo, 2006	Mutational screen	5	n.a.	80%	28(+/-5)	p.Cys212Tyr: hom p.Val56Glu + p.Cys212Tyr: comp. het.
Gaig, 2006	Other/Mixed	1	n.a.	100%	44	c.(7+1_8-1)_(171+1_172-1)del: hom
Chung, 2006	Mutational screen	3	A	n.a.	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: comp. het. c.(171+1_172-1)_(412+1_413-1)del: comp. het.
Biswas, 2006	Mutational screen	2	n.a.	0%	31(+/-0)	c.(171+1_172-1)_(534+1_535-1)del: hom
Sun, 2006	Family study	24	n.a.	n.a.	39(+/-13)	p.Gly430Asp: hom p.Pro437Leu + p.Pro113Thrfs51 + 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.Asn52Metfs29: 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: 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.Arg234Gln + p.Arg33Gln: 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
Nakaso, 2006	Family study	2	A	50%	49(+/-4)	c.(171+1_172-1)_(534+1_535-1)del: hom c.(171+1_172-1)_(618+1_619-1)del: hom
De Rosa, 2006	Other/Mixed	4	n.a.	75%	32(+/-12)	c.(7+1_8-1)_(171+1_172-1)del + 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)_(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 Show more (+1)
Deng, 2006	Other/Mixed	4	n.a.	50%	35(+/-3)	p.Thr240Met + c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Chien, 2006	Other/Mixed	10	C	80%	31(+/-10)	c.7+1G>T: 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
Klein, 2005	Mutational screen	1	n.a.	100%	40	p.Arg275Trp + p.Lys211Asn: comp. het.
Mata, 2005	Family study	2	n.a.	100%	44(+/-4)	c.(7+1_8-1)_(534+1_535-1)[3]: hom
Clarimon, 2005	Family study	4	JO	50%	24(+/-10)	c.(412+1_413-1)_(734+1_735-1)del: hom
Shyu, 2005	Other/Mixed	20	A	n.a.	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, 2005	Other/Mixed	1	n.a.	100%	45	c.(?_-103-1)_(7+1_8-1)dup + p.Asp243Asn: comp. het.
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.
Wu, 2005	Other/Mixed	2	A	100%	34(+/-3)	c.(7+1_8-1)_(171+1_172-1)del + p.Gly284Arg: comp. het.
Khan, 2005	Family study	5	n.a.	40%	28(+/-9)	c.(412+1_413-1)_(534+1_535-1)del: hom
Bertoli-Avella, 2005	Other/Mixed	22	n.a.	n.a.	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 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 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: 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.Pro113Thrfs51: hom p.Ala291Leufs6: 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, 2004	Case report/Case series	1	n.a.	100%	22	c.(171+1_172-1)_(412+1_413-1)del: hom
Sasaki, 2004	Case report/Case series	1	n.a.	n.a.	33	c.(171+1_172-1)_(412+1_413-1)del: hom
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.
Dogu, 2004	Other/Mixed	3	n.a.	33%	27(+/-10)	c.(412+1_413-1)_(534+1_535-1)del: hom
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.(171+1_172-1)_(534+1_535-1)del + c.618+17A>C: comp. het.
Djarmati, 2004	Mutational screen	1	n.a.	100%	41	c.(734+1_735-1)_(871+1_872-1)del + p.Pro437Leu: comp. het.
Kunishige, 2004	Case report/Case series	2	A	50%	34(+/-21)	c.(171+1_172-1)_(534+1_535-1)del: hom
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.Pro113Thrfs51 + p.Asn52Metfs29: 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.Gln34Argfs5: 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.Asn52Metfs29: 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
Okuma, 2003	Case report/Case series	1	A	100%	38	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.Pro113Thrfs51: hom p.Arg275Trp + p.Pro113Thrfs51: 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.Gln34Argfs5: hom p.Gln34Argfs5 + p.Cys268*: 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+2T>A Show more (+4) + c.(618+1_619-1)_(871+1_872-1)del: 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.Gln34Argfs5: hom p.Trp74Cysfs8: 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.Asn52Metfs29 + 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.Asn52Metfs29: 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.Gln34Argfs5: hom p.Pro113Thrfs51: hom p.Gly430Asp + p.Pro113Thrfs*51: comp. het. p.Pro437Leu + p.Arg275Trp: comp. het. p.Cys253Tyr: comp. het. Show more (+3)
Kim, 2003	Family study	2	A	0%	41(+/-4)	c.(412+1_413-1)_(534+1_535-1)del: hom
Rawal, 2003	Mutational screen	11	n.a.	n.a.	33(+/-12)	p.Trp445: hom p.Arg275Trp: hom p.Pro437Leu: het c.(412+1_413-1)_(534+1_535-1)del: hom p.Asn428Lysfs141 + c.(618+1_619-1)_(734+1_735-1)del: comp. het. c.(171+1_172-1)_(534+1_535-1)del: hom c.(171+1_172-1)_(534+1_535-1)del + p.Asn52Metfs*29: 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.
Kobayashi, 2003	Family study	8	A	75%	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, 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.Ala291Leufs6: hom c.(534+1_535-1)_(734+1_735-1)del: hom p.Asn52Metfs29: hom
Khan, 2002	Family study	4	n.a.	75%	30(+/-2)	c.(871+1_872-1)_(933+1_934-1)del + c.618+2T>A: comp. het.
Wu, 2002	Family study	3	A	33%	28(+/-8)	c.(171+1_172-1)_(412+1_413-1)del + c.(412+1_413-1)_(534+1_535-1)del: comp. het.
Nichols, 2002	Sib pair study	23	n.a.	n.a.	38(+/-8)	p.Pro113Thrfs51 + 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.Pro437Leu + p.Arg275Trp: 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.Asn52Metfs29: hom Show more (+5)
Hoenicka, 2002	Family study	11	n.a.	73%	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 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.Arg275Trp + p.Pro113Thrfs51: comp. het. p.Asn52Metfs29 + c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Hilker, 2002	Mutational screen	5	n.a.	n.a.	n.a.	p.Val324Alafs111 + c.(618+1_619-1)_(734+1_735-1)del: comp. het. c.(618+1_619-1)_(734+1_735-1)del: hom p.Val324Alafs111: hom
Pramstaller, 2002	Other/Mixed	1	n.a.	0%	29	c.(734+1_735-1)_(871+1_872-1)dup + p.Arg275Trp: comp. het.
Alvarez, 2001	Other/Mixed	3	n.a.	33%	22(+/-2)	p.Arg392Serfs*3: hom
Bonifati, 2001	Other/Mixed	2	n.a.	50%	33(+/-3)	c.(534+1_535-1)_(618+1_619-1)del + c.(171+1_172-1)_(1083+1_1084-1)del: comp. het. c.(171+1_172-1)_(412+1_413-1)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.
Lücking, 2001	Family study	2	n.a.	100%	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, 2001	Mutational screen	5	n.a.	80%	31(+/-11)	c.(412+1_413-1)_(534+1_535-1)dup: het p.Val324Alafs111: hom c.(7+1_8-1)_(171+1_172-1)del + c.(534+1_535-1)_(618+1_619-1)del: comp. het. p.Lys349Serfs20 + 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, 2001	Family study	3	A	67%	36(+/-2)	c.(171+1_172-1)_(534+1_535-1)del: hom
Portman, 2001	Sib pair study	2	JO	100%	28(+/-2)	c.(412+1_413-1)_(734+1_735-1)del: hom
Jeon, 2001	Case report/Case series	1	A	0%	12	c.(412+1_413-1)_(534+1_535-1)del: hom
Nisipeanu, 2001	Family study	6	B	83%	30(+/-7)	p.Gln34Argfs*10: hom
van de Warrenburg, 2001	Family study	3	n.a.	67%	31(+/-12)	c.(171+1_172-1)_(412+1_413-1)del + p.Lys211Asn: comp. het.
Terreni, 2001	Mutational screen	3	n.a.	33%	41(+/-12)	p.Arg42Pro: hom
Lu, 2001	Other/Mixed	2	n.a.	50%	29(+/-5)	c.(171+1_172-1)_(412+1_413-1)del: hom
Ujike, 2001	Mutational screen	4	A	n.a.	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, 2001	Other/Mixed	9	n.a.	44%	27(+/-12)	p.Trp74Cysfs*8: hom p.Cys212Tyr: hom
Hayashi, 2000	Family study	4	A	25%	33(+/-5)	c.(412+1_413-1)_(534+1_535-1)del: 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 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.(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
Klein, 2000	Family study	5	C	80%	49(+/-12)	c.(734+1_735-1)_(871+1_872-1)del + p.Val324Alafs*111: comp. het.
Lücking, 2000	Mutational screen	9	n.a.	38%	24(+/-11)	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: 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 Show more (+4) + p.Asn52Metfs*29: comp. het.
Unknown, 2000	Mutational screen	4	A	50%	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, 1999	Family study	3	JO	100%	35(+/-4)	c.(171+1_172-1)_(412+1_413-1)del: hom
Abbas, 1999	Family study	19	n.a.	53%	40(+/-8)	p.Thr415Asn: hom p.Trp453: hom p.Lys161Asn + p.Gln34Argfs5: comp. het. p.Trp74Cysfs8: 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.Asn52Metfs29: hom Show more (+4)
Leroy, 1998	Family study	2	n.a.	50%	15(+/-3)	c.(534+1_535-1)_(871+1_872-1)del: hom
Lücking, 1998	Family study	8	n.a.	50%	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, 1998	Mutational screen	2	n.a.	0%	24(+/-16)	p.Thr240Arg: hom p.Gln311*: hom
Kitada, 1998	Family study	3	A	67%	23(+/-6)	c.(412+1_413-1)_(534+1_535-1)del: hom c.(171+1_172-1)_(871+1_872-1)del: hom