Full data view for gene R3HDML

Information The variants shown are described using the NM_178491.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.513+125A>G r.(=) p.(=) Unknown g.44343634A>G dbSNP R3HDML_000001 0.600 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.629+2313A>T - - Unknown g.44347691A>T dbSNP R3HDML_000002 0.013 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.629+2383C>G - - Unknown g.44347761C>G dbSNP R3HDML_000003 0.879 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
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