All variants in the ANO5 gene

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.

266 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
?/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - VUS g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bolduc 2010, OMIM:var0004 - - Germline - 1/100 - 0 - Johan den Dunnen
?/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - VUS g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bolduc 2010, OMIM:var0004 - - Germline - 2/210 - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.191dup p.Asn64Lysfs*15 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 nonsense mediated mRNA decay Bolduc ASHG2011 A114 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Unknown - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup c.191dup - ANO5_000040 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bouqet 2012, PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bouqet 2012, PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Schessl 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Schessl 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Schessl 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Magrib 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Magrib 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Deschauer 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
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