Full data view for gene DOK7

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_173660.4 transcript reference sequence.

190 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - - - - Germline - - - - - DNA SEQ - - CMS - - patient has unaffected carrier father - - Germany - - - - - 2 Angela Abicht
+/. - c.1124_1127dup r.(?) p.(Ala378Serfs*30) Unknown ACMG pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 ACMG grading: PS3,PVS1,PM2; Beeson ; 2006. Science 313: 1975 16 of 21 patients with suspected CMS harbored 1124_1127dupTGCC (5x homozygous, 11x compound heterozygous); funct. test: 1124_1127dupTGCC impairs MuSK activity and its ability to shape the specialization of postsynaptic structures. Lozowska ; 2015. J Clin Neuromuscul Dis 17: 72 16 of 21 patients with suspected CMS harbored 1124_1127dupTGCC (5x homozygous, 11x compound heterozygous); funct. test: 1124_1127dupTGCC impairs MuSK activity and its ability to shape the specialization of postsynaptic structures. - - rs764365793 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Paternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind01 see also PubMed: Beeson 2006, PubMed: Palace 2007 - M - United Kingdom (Great Britain) white >34y - - - 2 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind02 see also PubMed: Beeson 2006, PubMed: Palace 2007 - M - United Kingdom (Great Britain) white >55y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind02 see also PubMed: Beeson 2006, PubMed: Palace 2007 - M - United Kingdom (Great Britain) white >55y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind03 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >63y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind04 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >63y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind05 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >49y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind06 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >49y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind06 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >49y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Paternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind07 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - India Asian >26y - - - 2 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind10 see also PubMed: Beeson 2006 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind11 see also PubMed: Beeson 2006, PubMed: Palace 2007, LGM8 in PubMed: Slater 2006 sister of 16917026-Ind11b F - United Kingdom (Great Britain) white >50y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT PubMed: Beeson 2006, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind11b see also PubMed: Beeson 2006 brother of 16917026-Ind11 M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind13 see also PubMed: Beeson 2006, LGM4 in PubMed: Slater 2006 - F - United Kingdom (Great Britain) white >26y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind16 see also PubMed: Beeson 2006 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind17 see also PubMed: Beeson 2006 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind18 see also PubMed: Beeson 2006 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.1124_1127dup p.Ala378Serfs*30 Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Schara 2009, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS 16917026-Ind19 PubMed: Beeson 2006, PubMed: Schara 2009 treated with ephedrine (Schara 2009) M - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.1124_1127dup p.Ala378Serfs*30 Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Schara 2009, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS 16917026-Ind19 PubMed: Beeson 2006, PubMed: Schara 2009 treated with ephedrine (Schara 2009) M - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.1124_1127dup p.Ala378Serfs*30 Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT PubMed: Beeson 2006, PubMed: Schara 2009, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS 16917026-Ind20 PubMed: Beeson 2006, PubMed: Schara 2009 treated with ephedrine (Schara 2009) M - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT PubMed: Beeson 2006, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind21 see also PubMed: Beeson 2006 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT PubMed: Beeson 2006, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind21 see also PubMed: Beeson 2006 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind12 see also PubMed: Beeson 2006, LGM5 in PubMed: Slater 2006 - M - United Kingdom (Great Britain) white >22y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 not in 204 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CMS 16917026-Ind12 see also PubMed: Beeson 2006, LGM5 in PubMed: Slater 2006 - M - United Kingdom (Great Britain) white >22y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat01 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - RNA RT-PCR, SEQ - - CMS 18626973-Pat02 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat03 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat04 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat04 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - RNA RT-PCR, SEQ - - CMS 18626973-Pat05 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat06 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat07 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.Ala378Serfs*30 Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat08 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.[1124_1127dup, 55_100del; 1124_1127dup] p.[Ala378Serfs*30, fs*] Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 r.1124_1127dup in 25/79 cDNA clones, r.1124_1127dup+ex02 skip in 7/79 PubMed: Selcen 2008 - - Germline - - - - - RNA RT-PCR, SEQ - - CMS 18626973-Pat10 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat11 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.1124_1127dup p.Ala378Serfs*30 Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 5/42 cDNA clones PubMed: Selcen 2008 - - Germline - - - - - RNA RT-PCR, SEQ - - CMS 18626973-Pat12 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat14 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat15 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Selcen 2008 - - Germline - - - - - DNA SEQ - - CMS 18626973-Pat16 see also PubMed: Selcen 2008 - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam1P1 see PubMed: Muller 2007 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Paternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam8P10 see PubMed: Muller 2007 - F - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam8P10 see PubMed: Muller 2007 - F - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam10P12 see PubMed: Muller 2007 - F - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Paternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam11P13 see PubMed: Muller 2007 - M - Portugal - - - - - 1 Angela Abicht
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam1P2 see PubMed: Muller 2007 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam3P4 see PubMed: Muller 2007 - F - Canada - - - - - 1 Angela Abicht
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam4P5 see PubMed: Muller 2007 - F - Portugal - - - - - 1 Angela Abicht
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam5P6 see PubMed: Muller 2007 - F - Spain - - - - - 1 Angela Abicht
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Paternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam6P7 see PubMed: Muller 2007 - M - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam6P7 see PubMed: Muller 2007 - M - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam7P8 see PubMed: Muller 2007 - M - Germany - - - - - 1 Angela Abicht
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Paternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam8P9 see PubMed: Muller 2007 - M - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Muller 2007 - - Germline - - - - - DNA SEQ - - CMS 17439981-Fam8P9 see PubMed: Muller 2007 - M - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Palace 2007 - - Germline - - - - - DNA SEQ - - CMS 17452375-Pat05 see PubMed: Palace 2007 - M - United Kingdom (Great Britain) - >19y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Palace 2007 - - Germline - - - - - DNA SEQ - - CMS 17452375-Pat06 see PubMed: Palace 2007 - M - United Kingdom (Great Britain) - >55y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Palace 2007 - - Germline - - - - - DNA SEQ - - CMS 17452375-Pat08 see PubMed: Palace 2007 sister of 17452375-Pat09 F - United Kingdom (Great Britain) - >38y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Palace 2007 - - Germline - - - - - DNA SEQ - - CMS 17452375-Pat09 see PubMed: Palace 2007 sister of 17452375-Pat08 F - United Kingdom (Great Britain) - >45y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Maternal (confirmed) - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - PubMed: Palace 2007 - - Germline - - - - - DNA SEQ - - CMS 17452375-Pat10 see PubMed: Palace 2007 - F - United Kingdom (Great Britain) - >26y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - - - - Germline - - - - - DNA PCR, SEQ - - ? - - - - - United States - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 - - - - Germline - - - - - DNA PCR, SEQ - - ? - - - - - (United States) - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamA PubMed: Srour 2010 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamA PubMed: Srour 2010 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamB PubMed: Srour 2010 3 affecteds - - Canada French-Canadian - - - - 3 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamB PubMed: Srour 2010 3 affecteds - - Canada French-Canadian - - - - 3 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamC PubMed: Srour 2010 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamC PubMed: Srour 2010 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamD PubMed: Srour 2010 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamD PubMed: Srour 2010 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamE PubMed: Srour 2010 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup 1124_1127dupTGCC - DOK7_000001 homozygosity mapping, founder haplotype PubMed: Srour 2010 - - Germline - - - - - DNA SEQ - - CMS 20610155-FamE PubMed: Srour 2010 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - - - - Germline - - - - - DNA PCR, SEQ - - ? - - - - - United States - - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - - - - Germline - - - - - DNA PCR, SEQ - - CMS - - - M - Australia white - - - - 1 Tom Winder
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Mihaylova 2010 - - Germline - - - - - DNA SEQ - - CMS 20562457-Pat18 PubMed: Mihaylova 2010 relative of 20562457-Pat19 F - Portugal Indian African - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Mihaylova 2010 - - Germline - - - - - DNA SEQ - - CMS 20562457-Pat19 PubMed: Mihaylova 2010 relative of 20562457-Pat18 M - Portugal Indian African - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Mihaylova 2010 - - Germline - - - - - DNA SEQ - - CMS 20562457-Pat17 PubMed: Mihaylova 2010 - F - Portugal;Poland - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Mihaylova 2010 - - Germline - - - - - DNA SEQ - - CMS 20562457-Pat20 PubMed: Mihaylova 2010 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Anderson 2007 - - Germline - - - - - DNA SEQ - - CMS 18161030-Pat2 PubMed: Anderson 2007 - F - United States - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Anderson 2007 - - Germline - - - - - DNA SEQ - - CMS 18161030-Pat4 PubMed: Anderson 2007 - M - United States - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Anderson 2007 - - Germline - - - - - DNA SEQ - - CMS 18161030-Pat5 PubMed: Anderson 2007 - M - United States - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Anderson 2007 - - Germline - - - - - DNA SEQ - - CMS 18161030-Pat6 PubMed: Anderson 2007 - M - United States - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Schara 2009 - - Germline - - - - - DNA SEQ - - CMS 19837590-Pat4 PubMed: Schara 2009 - M - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Schara 2009 - - Germline - - - - - DNA SEQ - - CMS 19837590-Pat4 PubMed: Schara 2009 - M - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Schara 2009 - - Germline - - - - - DNA SEQ - - CMS 19837590-Pat5 PubMed: Schara 2009 - F - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Schara 2009 - - Germline - - - - - DNA SEQ - - CMS 19837590-Pat6 PubMed: Schara 2009 brother of 19837590-Pat7 M - Sweden - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Schara 2009 - - Germline - - - - - DNA SEQ - - CMS 19837590-Pat7 PubMed: Schara 2009 brother of 19837590-Pat6 M - Sweden - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: Schara 2009 - - Germline - - - - - DNA SEQ - - CMS 19837590-Pat8 PubMed: Schara 2009 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat01 PubMed: BenAmmar 2010 - M - France - >69y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat02 PubMed: BenAmmar 2010 - F - France - >56y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat03 PubMed: BenAmmar 2010 - M - France - >47y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat04 PubMed: BenAmmar 2010 - M - France - >46y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat05 PubMed: BenAmmar 2010 relative of 20012313-Pat06 F - France - >36y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat06 PubMed: BenAmmar 2010 relative of 20012313-Pat05 M - France - >41y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat07 PubMed: BenAmmar 2010 - M - France - >32y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #2 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat07 PubMed: BenAmmar 2010 - M - France - >32y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat09 PubMed: BenAmmar 2010 - F - France - >18y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat10 PubMed: BenAmmar 2010 - F - France - >14y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat11 PubMed: BenAmmar 2010 - M - France - >18y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat12 PubMed: BenAmmar 2010 - F - France - >18y - - - 1 Johan den Dunnen
+/. 7 c.1124_1127dup r.(?) p.(Ala378Serfs*30) Parent #1 - pathogenic g.3494837_3494840dup g.3493110_3493113dup - - DOK7_000001 - PubMed: BenAmmar 2010 - - Germline - - - - - DNA SEQ - - CMS 20012313-Pat13 PubMed: BenAmmar 2010 - F - France - >12y - - - 1 Johan den Dunnen
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