Full data view for gene ANO5

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_213599.2 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
Legend   « 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     
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Bolduc 2010 - F - Canada French Canadian >64y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (confirmed) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >72y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (confirmed) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >67y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (confirmed) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >53y 0 - - 1 Johan den Dunnen
?/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Unknown - VUS g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bolduc 2010, OMIM:var0004 - - Germline - 1/100 - 0 - DNA SEQ - - Healthy/Control - PubMed: Bolduc 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Unknown - VUS g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bolduc 2010, OMIM:var0004 - - Germline - 2/210 - 0 - DNA SEQ - - Healthy/Control - PubMed: Bolduc 2010 - - - Netherlands - - 0 - - 2 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - dystrophy, muscular, Miyoshi, type 3 - - - M - United States - - 0 - - 1 Tom Winder
+/. 5 c.191dup r.191dup p.Asn64Lysfs*15 Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 nonsense mediated mRNA decay Bolduc ASHG2011 A114 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - LGMD - Bolduc ASHG2011 A114 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >61y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - - 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - 68y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >50y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >45y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >68y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >37y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >43y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >61y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - >54y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - >57y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >56y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >47y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >55y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >40y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >58y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >49y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >48y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >58y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >56y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (inferred) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - United States - - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD - - - - - United States - - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (inferred) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - M - United States - - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - F - United States Caucasian - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (inferred) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - United States Caucasian - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - M - United States Caucasian - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Deschauer 2011 - F - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Sarkozy 2012 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Sarkozy 2012 brother of 21739273-Pat3b M - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Sarkozy 2012 sister of 21739273-Pat3a F - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Sarkozy 2012 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - - - United States - - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Unknown - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Unknown - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - - - United States Caucasian - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (inferred) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - M - United States Caucasian - 0 - - 1 Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bouqet 2012, PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Sarkozy 2012 2-generation family, 2 affecteds (brothers), unaffected carrier parents M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bouqet 2012, PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Sarkozy 2012 2-generation family, 2 affecteds (brothers), unaffected carrier parents M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Sarkozy 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Sarkozy 2012 - F - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Schessl 2012 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Schessl 2012 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Schessl 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Schessl 2012 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Schessl 2012 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Schessl 2012 sister with similar symptoms F - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Magrib 2012 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Magrib 2012 3-generation family, 2 affecteds, unaffecteds carrier parents and sibs M no Italy - - 0 - - 2 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Magrib 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Magrib 2012 3-generation family, 2 affecteds, unaffecteds carrier parents and sibs F no Italy - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >61y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - - 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - 68y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >50y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >45y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >68y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >37y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >43y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >61y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - >54y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - >57y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >56y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >40y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >58y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >49y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >48y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Deschauer 2011 - F - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Sarkozy 2012 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Sarkozy 2012 - F - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - M - Canada - - 0 - - 1 Tom Winder
Legend   « First ‹ Prev     1 2     Next › Last »