Full data view for gene FKRP

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_024301.4 transcript reference sequence.

389 entries on 4 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     
+/. - 826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat80 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/+ 4 c.826C>A r.(?) p.(Leu276Ile) Unknown - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.826C>A r.(?) p.(Leu276Ile) Unknown - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Maternal (confirmed) - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Navarro-Cobos 2017 - rs28937900 Germline yes 1/120 NMD case chromosomes - - - DNA SEQ Peripheral blood leokocytes - MDDGC5;LGMDR9;LGMD2I Pat1 PubMed: Navarro-Cobos 2017 2-generation family, patient and milder affected sister, unaffected heterozygous carrier parents M no Mexico Mexican >10y - yes - 2 Miguel Angel Alcántara-Ortigoza
+/+ 4 c.826C>A r.(?) p.(Leu276Ile) Both (homozygous) - pathogenic (recessive) g.47259533C>A g.46756276C>A C826A - FKRP_000001 - PubMed: de Paula 2003 - - Germline - - - - - DNA SEQ, SSCA - - LGMD 11251997-FamPat3 PubMed: de Paula 2001, PubMed: de Paula 2003 3-generation family, 1 affected, unaffected heterozygous carrier son/daughter F yes Brazil - - - - - 3 Johan den Dunnen
+/+ 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: de Paula 2003 - - Germline - - - - - DNA SEQ, SSCA - - Healthy/Control 11251997-FamS PubMed: de Paula 2001, PubMed: de Paula 2003 sister F - Brazil - - - - - 1 Johan den Dunnen
+/+ 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: de Paula 2003 - - Germline - - - - - DNA DHPLC, SEQ - - Healthy/Control 11251997-FamS/D PubMed: de Paula 2001, PubMed: de Paula 2003 brother M - Brazil - >41y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam8 / .. PubMed: Brockington, OMIM:var0004 - - no - - - - - - 4 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam8 / .. PubMed: Brockington, OMIM:var0004 - - no - - - - - - 4 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 1, 3 PubMed: Walter - F;M yes Germany - - - - - 1 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 1, 3 PubMed: Walter - F;M yes Germany - - - - - 1 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 4, 5, .. PubMed: Walter 8 cases families non-consanguineous parents F;M yes Germany - - - - - 8 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 4, 5, .. PubMed: Walter 8 cases families non-consanguineous parents F;M yes Germany - - - - - 8 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 6, 13 PubMed: Walter - F - Germany - - - - - 3 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 6, 13 PubMed: Walter - F - Germany - - - - - 3 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 2 PubMed: Walter - M - Croatia (Hrvatska) - - - - - 3 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 2 PubMed: Walter - M - Croatia (Hrvatska) - - - - - 3 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam6 / Fam16 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 2 non-consanguineous families - - - - - - - - 2 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam6 / Fam16 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 2 non-consanguineous families - - - - - - - - 2 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 shared alleles from D19S412 to D19S540 PubMed: Frosk - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 ? PubMed: Frosk European origin, 19 affecteds 5 families - - United States Hutterite - - - - 19 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 shared alleles from D19S412 to D19S540 PubMed: Frosk - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 ? PubMed: Frosk European origin, 19 affecteds 5 families - - United States Hutterite - - - - 19 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Muller 2005, PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA SEQ - - MD II-1 PubMed: Muller 2005, PubMed: Gaul 2006 brothers M - Germany - - - - - 3 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Muller 2005, PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA SEQ - - MD II-1 PubMed: Muller 2005, PubMed: Gaul 2006 brothers M - Germany - - - - - 3 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Sveen WMS2005 L.P.3.06 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA SEQ - - LGMD2 ? Sveen WMS2005 L.P.3.06 28 patients - - Denmark - - - - - 28 Marianne Schwartz
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Sveen WMS2005 L.P.3.06 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA SEQ - - LGMD2 ? Sveen WMS2005 L.P.3.06 28 patients - - Denmark - - - - - 28 Marianne Schwartz
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Both (homozygous) - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Ginjaar WMS2005, PubMed: Ten Dam 2019 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? Ginjaar WMS2005, PubMed: Ten Dam 2019 - F - Netherlands - >26y - - - 1 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Boito 2005 - rs28937900 Germline - - BfaI- - - DNA DHPLC - - LGMD2 Pat3 PubMed: Boito 2005 adopted M - Italy - >42y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Boito 2005 - rs28937900 Germline - - BfaI- - - DNA DHPLC - - LGMD2 Pat3 PubMed: Boito 2005 adopted M - Italy - >42y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Boito 2005 - rs28937900 Germline - - BfaI- - - DNA DHPLC - - LGMD2 Pat8 PubMed: Boito 2005 7 affecteds, 5M [one asymptomatic], 2F F;M - Italy - - - - - 7 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Boito 2005 - rs28937900 Germline - - BfaI- - - DNA DHPLC - - LGMD2 Pat8 PubMed: Boito 2005 7 affecteds, 5M [one asymptomatic], 2F F;M - Italy - - - - - 7 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Boito 2005 - rs28937900 Germline - - BfaI- - - DNA DHPLC - - LGMD2 Pat18 PubMed: Boito 2005 - F - Italy - >63y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Boito 2005 - rs28937900 Germline - - BfaI- - - DNA DHPLC - - LGMD2 Pat18 PubMed: Boito 2005 - F - Italy - >63y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: de Paula 2003; PubMed: Yamamoto 2008 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA DHPLC, SEQ - - LGMD2 Fam4; patient 3 PubMed: de Paula 2003; PubMed: Yamamoto 2008 - F - Brazil - >24y - - - 2 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: de Paula 2003; PubMed: Yamamoto 2008 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA DHPLC, SEQ - - LGMD2 Fam4; patient 3 PubMed: de Paula 2003; PubMed: Yamamoto 2008 - F - Brazil - >24y - - - 2 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 ? - - F - Germany - >30y - - - 1 Lab Müller-Reible
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 ? - - F - Germany - >30y - - - 1 Lab Müller-Reible
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Freixas ESHG2006 P0925 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA SEQ - - LGMD ? Freixas ESHG2006 P0925 - F;M no Spain - - - - - 3 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Freixas ESHG2006 P0925 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA SEQ - - LGMD ? Freixas ESHG2006 P0925 - F;M no Spain - - - - - 3 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Freixas ESHG2006 P0925 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA SEQ - - LGMD ? Freixas ESHG2006 P0925 - - no Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Freixas ESHG2006 P0925 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA SEQ - - LGMD ? Freixas ESHG2006 P0925 - - no Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Both (homozygous) - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Ten Dam 2019 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Netherlands - - - - - 2 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Both (homozygous) - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Ten Dam 2019 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Both (homozygous) - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Ten Dam 2019 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Both (homozygous) - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Ten Dam 2019 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Netherlands - - - - - 2 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Both (homozygous) - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Ten Dam 2019 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Both (homozygous) - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Ten Dam 2019 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA PCRdig - - LGMD Pat4 PubMed: Gaul 2006 myoglobin: 9x F - Germany - >24y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA PCRdig - - LGMD Pat4 PubMed: Gaul 2006 myoglobin: 9x F - Germany - >24y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA PCRdig - - LGMD Pat5 PubMed: Gaul 2006 - M - Germany - >47y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA PCRdig - - LGMD Pat5 PubMed: Gaul 2006 - M - Germany - >47y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA PCRdig - - LGMD Pat6 PubMed: Gaul 2006 myoglobin: 8x F - Germany - >17y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA PCRdig - - LGMD Pat6 PubMed: Gaul 2006 myoglobin: 8x F - Germany - >17y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA PCRdig - - LGMD Fam5-7 / 8 / 9 PubMed: Gaul 2006 myoglobin: 1.5x F;M - Germany - - - - - 3 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Gaul 2006 - rs28937900 Germline - - BfaI-;FspBI+ - - DNA PCRdig - - LGMD Fam5-7 / 8 / 9 PubMed: Gaul 2006 myoglobin: 1.5x F;M - Germany - - - - - 3 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Reilich, Acta Myol. XXV:73 - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 Pat1 Reilich, Acta Myol. XXV:73 founder allele M - Germany Hutterite >46y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Reilich, Acta Myol. XXV:73 - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 Pat1 Reilich, Acta Myol. XXV:73 founder allele M - Germany Hutterite >46y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Reilich, Acta Myol. XXV:73 - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 Pat2 Reilich, Acta Myol. XXV:73 Hutterite founder allele ? no Germany Hutterite >45y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Reilich, Acta Myol. XXV:73 - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 Pat2 Reilich, Acta Myol. XXV:73 Hutterite founder allele ? no Germany Hutterite >45y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam9 PubMed: Brockington, OMIM:var0004 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam2 / Fam4 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - - - - - - - - - 2 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: von der Hagen 2006 - rs28937900 Germline - - - - - DNA SEQ - - MD 1 / 2 PubMed: von der Hagen 2006 - M - Germany - - - - - 2 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam3, 5, 12, 17 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - - - - - - - - - 4 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 ? - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Ginjaar WMS2005, PubMed: Ten Dam 2019 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? Ginjaar WMS2005, PubMed: Ten Dam 2019 - F yes Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam7 PubMed: Brockington, OMIM:var0004 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam10/Fam13 PubMed: Brockington, PubMed: Mercuri, OMIM:var0004 - - - - - - - - - 2 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #2 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 15 PubMed: Walter - F - Germany - - - - - 1 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 14 PubMed: Walter - M - Germany - - - - - 1 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Mercuri - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam7 (pat9) PubMed: Mercuri - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 17 PubMed: Walter - F - Germany - - - - - 1 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 18 PubMed: Walter - M - Germany - - - - - 1 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 19 PubMed: Walter - F - Germany - - - - - 1 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Walter - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 20 PubMed: Walter - F - Germany - - - - - 1 Rolf Stucka
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Mercuri - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam6-Pat7 / .. PubMed: Mercuri - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Mercuri - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam9 .. PubMed: Mercuri - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Mercuri, PubMed: Quijano-Roy 2006 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam10 .. PubMed: Mercuri, PubMed: Quijano-Roy 2006 sibs F;M - France - - - - - 2 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Mercuri, PubMed: Torelli 2005 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam12 P17 PubMed: Mercuri, PubMed: Torelli 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Mercuri, PubMed: Torelli 2005 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 Fam14 P19 PubMed: Mercuri, PubMed: Torelli 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Sveen WMS2005 L.P.3.06 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD ? Sveen WMS2005 L.P.3.06 - - - Denmark - - - - - 1 Marianne Schwartz
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Sveen WMS2005 L.P.3.06 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD ? Sveen WMS2005 L.P.3.06 - - - Denmark - - - - - 1 Marianne Schwartz
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Sveen WMS2005 L.P.3.06 - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD ? Sveen WMS2005 L.P.3.06 - - - Denmark - - - - - 2 Marianne Schwartz
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 ? - - - - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 ? - - - - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD 181/LGMD - - F - Portugal - >4y - - - 1 Rosário dos Santos
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Frosk, {DB: Winnipeg} - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 NCL-08 PubMed: Frosk, {DB: Winnipeg} - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Frosk, {DB: Winnipeg} - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 NCL-10 PubMed: Frosk, {DB: Winnipeg} - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Frosk, PubMed: de Paula 2003, {DB: Winnipeg}; PubMed: Yamamoto 2008 - rs28937900 Germline - - BfaI- - - DNA DHPLC, SEQ - - LGMD2 C17.553; Fam12; pat. 10 PubMed: Frosk, PubMed: de Paula 2003, {DB: Winnipeg}; PubMed: Yamamoto 2008 - M no Brazil - >51y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Frosk, {DB: Winnipeg} - rs28937900 Germline - - BfaI- - - DNA SEQ - - LGMD2 G-04 PubMed: Frosk, {DB: Winnipeg} - - - Canada Germany - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 ? - - - - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 ? - - - - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Ginjaar WMS2005 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? - - - - Netherlands - >13y - - - 1 Ieke Ginjaar
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 ? - - M - Germany - >7y - - - 1 Lab Müller-Reible
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Torelli 2005 - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 Pat8 PubMed: Torelli 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 ? - - M - United States - - - - - 1 Akanchha Kesari
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Kesari 2008 - rs28937900 Germline - - - - - DNA DHPLC, SEQ - - LGMD2 ? PubMed: Kesari 2008 - F - United States - >25y - - - 1 Akanchha Kesari
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? - - M - United States - - - - - 1 Akanchha Kesari
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - - - rs28937900 Germline - - - - - DNA SEQ - - LGMD2 ? - - F - United States - - - - - 1 Akanchha Kesari
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - PubMed: Boito 2005 - rs28937900 Germline - - BfaI- - - DNA DHPLC - - LGMD2 Pat7 PubMed: Boito 2005 - M - Italy - >42y - - - 1 Johan den Dunnen
+/. 4 c.826C>A r.(?) p.(Leu276Ile) Parent #1 - pathogenic (recessive) g.47259533C>A g.46756276C>A - - FKRP_000001 - Sveen WMS2005 L.P.3.06 - rs28937900 Germline - - - - - DNA SEQ - - LGMD ? Sveen WMS2005 L.P.3.06 - - - Denmark - - - - - 2 Marianne Schwartz
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