Full data view for gene RAPSN

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_005055.3 transcript reference sequence.

164 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
?/. - c.264C>A r.(?) p.(Asn88Lys) Unknown - VUS g.47469631G>T g.47448079G>T - - RAPSN_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.264C>A r.(?) p.(Asn88Lys) Unknown - pathogenic g.47469631G>T g.47448079G>T RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)) - RAPSN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.264C>A r.(?) p.(Asn88Lys) Unknown - pathogenic g.47469631G>T g.47448079G>T RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)) - RAPSN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - likely pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - - - - Germline - - - 0 - DNA SEQ blood - CMS - - - F no Brazil - 16y 0 - - 1 Eduardo Estephan
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Both (homozygous) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - - - - 0 - - 1 Eduardo Estephan
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Both (homozygous) - pathogenic g.47469631G>T g.47448079G>T 47469402C>T - RAPSN_000002 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - F no Brazil - - 0 - - 1 Eduardo Estephan
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (inferred) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - CMS - - - M - Canada French-Canadian - 0 - - 1 Tom Winder
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (inferred) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - CMS - - - M - Canada French-Canadian - 0 - - 1 Tom Winder
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2002, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 11791205-Pat1a PubMed: Ohno 2002 3-generation family, sister of 11791205-Pat1b F - United States white >2y6m 0 - - 3 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2002, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 11791205-Pat1b PubMed: Ohno 2002 3-generation family, brother of 11791205-Pat1a M - United States white - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (inferred) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2002, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 11791205-Pat2 PubMed: Ohno 2002 - M - United States white >2y 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2002, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 11791205-Pat2 PubMed: Ohno 2002 - M - United States white >2y 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2002, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 11791205-Pat3 PubMed: Ohno 2002 - F - United States - >27y 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2002, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 11791205-Pat3 PubMed: Ohno 2002 - F - United States - >27y 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2002, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 11791205-Pat4 PubMed: Ohno 2002 - F - United States - >11y 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12651869-Pt1 PubMed: Ohno 2003 - F - United States - - 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat1 PubMed: Muller 2003 - F - Austria - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat1 PubMed: Muller 2003 - F - Austria - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat2 PubMed: Muller 2003 - F - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat2 PubMed: Muller 2003 - F - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat3 PubMed: Muller 2003 - F - United Kingdom (Great Britain) - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat3 PubMed: Muller 2003 - F - United Kingdom (Great Britain) - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat4 PubMed: Muller 2003 - M - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat4 PubMed: Muller 2003 - M - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat5 PubMed: Muller 2003 - F - Italy - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat5 PubMed: Muller 2003 - F - Italy - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat6 PubMed: Muller 2003 - F - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat6 PubMed: Muller 2003 - F - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat7 PubMed: Muller 2003 - M - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12796535-Pat7 PubMed: Muller 2003 - M - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - BseNI+ 0 - DNA SEQ - - CMS 12796535-Pat8b PubMed: Muller 2003 affected brother and sister M - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - BseNI+ 0 - DNA SEQ - - CMS 12796535-Pat8s PubMed: Muller 2003 affected brother and sister F - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - BseNI+ 0 - DNA SEQ - - CMS 12796535-Pat9 PubMed: Muller 2003 - M - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - BseNI+ 0 - DNA SEQ - - CMS 12796535-Pat10b1 PubMed: Muller 2003 affected brothers M - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Muller 2003 - - Germline - - BseNI+ 0 - DNA SEQ - - CMS 12796535-Pat10b2 PubMed: Muller 2003 affected brothers M - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12807980-Fam1b1 PubMed: Richard 2003 affected brothers M - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12807980-Fam1b1 PubMed: Richard 2003 affected brothers M - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Unknown - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12807980-Fam1b2 PubMed: Richard 2003 affected brothers M - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Unknown - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12807980-Fam1b2 PubMed: Richard 2003 affected brothers M - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Unknown - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12807980-Pat3 PubMed: Richard 2003 - F - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12807980-Pat4 PubMed: Richard 2003 - M - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Richard 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12807980-Pat5 PubMed: Richard 2003 - F - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat1 PubMed: Maselli 2003 older sibling died at 3m (severe generalized weakness), parents/brother unaffected F - - - - 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat2 PubMed: Maselli 2003 older sister born with severe weakness and arthrogryposis (died at 7m), parents/younger brother unaffected F - - - - 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat3 PubMed: Maselli 2003 - F - - - - 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat3 PubMed: Maselli 2003 - F - - - - 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat4 PubMed: Maselli 2003 - F - - - - 0 - - 3 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat4 PubMed: Maselli 2003 - F - - - - 0 - - 3 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat5 PubMed: Maselli 2003 - M - - - - 0 - - 2 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Paternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat6 PubMed: Maselli 2003 - M - - - - 0 - - 3 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Maternal (confirmed) - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Maselli 2003 - - Germline - - - 0 - DNA SEQ - - CMS 12929188-Pat6 PubMed: Maselli 2003 - M - - - - 0 - - 3 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat1 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat2 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat3 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat3 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat4 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat5 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat6 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat7 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat8 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat9 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat9 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat10 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat11 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat11 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat12 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat12 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat13 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat13 PubMed: Burke 2003 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat14 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat15 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat15 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat16 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Burke 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMS 14504330-Pat16 PubMed: Burke 2003 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat1 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat2 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat3 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat4 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat4 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat5 PubMed: Ohno 2004 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat6 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat6 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat7 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat8 PubMed: Ohno 2004 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat9 PubMed: Ohno 2004 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ohno 2004 - - Germline - - - 0 - DNA SEQ - - CMS 14729848-Pat10 PubMed: Ohno 2004 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ioos 2004 - - Germline - - - 0 - DNA SEQ - - CMS 15328566-Pat1 PubMed: Ioos 2004 - F - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ioos 2004 - - Germline - - - 0 - DNA SEQ - - CMS 15328566-Pat2 PubMed: Ioos 2004 sister died (11m during sleep) M - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Ioos 2004 - - Germline - - - 0 - DNA SEQ - - CMS 15328566-Pat3 PubMed: Ioos 2004 - F - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat1 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat2 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat3 PubMed: Cossins 2006 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat4 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat5 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat6 PubMed: Cossins 2006 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat7 PubMed: Cossins 2006 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat7 PubMed: Cossins 2006 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat8 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #2 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat8 PubMed: Cossins 2006 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.264C>A r.(?) p.(Asn88Lys) Parent #1 - pathogenic g.47469631G>T g.47448079G>T - - RAPSN_000002 - PubMed: Cossins 2006 - - Germline - - - 0 - DNA SEQ - - CMS 16945936-Pat9 PubMed: Cossins 2006 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »