Unique variants in 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     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.513+125A>G r.(=) p.(=) g.44343634A>G - R3HDML_000001 rs4812826 0.5956 154 125 Admin
./. 1 - c.629+2313A>T - - g.44347691A>T - R3HDML_000002 rs6031540 0.0147 6 2 Admin
./. 1 - c.629+2383C>G - - g.44347761C>G - R3HDML_000003 rs6017326 0.8809 71 263 Admin
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