All variants in the DHCR7 gene

Information The variants shown are described using the NM_001360.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - 0 - István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - 0 - István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - 0 - István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) B - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) B - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) F - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/? 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - 0 - István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - - - 0 - István Balogh
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
+/+ 6 c.452G>A r.(?) p.(Trp151*) - - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck
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