Unique variants in gene HSD17B10

Information The variants shown are described using the NM_004493.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.27+19C>T r.(=) p.(=) g.53461247G>A Copied from the Exome Variant Server HSD17B10_000021 2/10116 2/6414 0/3702
1 c.27+26T>C r.(=) p.(=) g.53461240A>G Copied from the Exome Variant Server HSD17B10_000020 1/10100 0/6401 1/3699
1 c.27+47G>A r.(=) p.(=) g.53461219C>T Copied from the Exome Variant Server HSD17B10_000019 3/9922 0/6278 3/3644
1 c.56C>G r.(?) p.(Ala19Gly) g.53460805G>C Copied from the Exome Variant Server HSD17B10_000018 1/10555 1/6722 0/3833
1 c.147C>G r.(=) p.(=) g.53460714G>C Copied from the Exome Variant Server HSD17B10_000017 1/10559 1/6727 0/3832
1 c.159G>A r.(=) p.(=) g.53460702C>T Copied from the Exome Variant Server HSD17B10_000016 1/10561 1/6727 0/3834
1 c.174C>T r.(=) p.(=) g.53460687G>A Copied from the Exome Variant Server HSD17B10_000015 1/10561 1/6727 0/3834
1 c.192+19C>T r.(=) p.(=) g.53460650G>A Copied from the Exome Variant Server HSD17B10_000014 5/10551 5/6721 0/3830
1 c.223C>G r.(?) p.(Leu75Val) g.53459329G>C Copied from the Exome Variant Server HSD17B10_000013 2/10563 2/6728 0/3835
1 c.259G>A r.(?) p.(Val87Ile) g.53459293C>T Copied from the Exome Variant Server HSD17B10_000012 1/10563 1/6728 0/3835
1 c.283G>A r.(?) p.(Ala95Thr) g.53459269C>T Copied from the Exome Variant Server HSD17B10_000011 1/10563 1/6728 0/3835
1 c.358-42T>C r.(=) p.(=) g.53459106A>G Copied from the Exome Variant Server HSD17B10_000010 20/10563 19/6728 1/3835
1 c.360G>A r.(=) p.(=) g.53459062C>T Copied from the Exome Variant Server HSD17B10_000009 1/10563 1/6728 0/3835
1 c.486+9G>A r.(=) p.(=) g.53458927C>T Copied from the Exome Variant Server HSD17B10_000008 1/10563 0/6728 1/3835
1 c.486+15del r.(=) p.(=) g.53458921del Copied from the Exome Variant Server HSD17B10_000006 7/10205 4/6484 3/3721
1 c.486+15G>A r.(=) p.(=) g.53458921C>T Copied from the Exome Variant Server HSD17B10_000007 1/10563 0/6728 1/3835
1 c.486+25T>C r.(=) p.(=) g.53458911A>G Copied from the Exome Variant Server HSD17B10_000005 1/10563 0/6728 1/3835
1 c.487-29C>G r.(=) p.(=) g.53458883G>C Copied from the Exome Variant Server HSD17B10_000004 1/10563 1/6728 0/3835
1 c.487-6C>T r.(=) p.(=) g.53458860G>A Copied from the Exome Variant Server HSD17B10_000003 1/10563 1/6728 0/3835
1 c.595+51G>T r.(=) p.(=) g.53458695C>A Copied from the Exome Variant Server HSD17B10_000002 1/10559 1/6724 0/3835
1 c.*45C>T r.(=) p.(=) g.53458307G>A Copied from the Exome Variant Server HSD17B10_000001 2/10561 2/6726 0/3835
Legend