Unique variants in gene HPRT1

Information The variants shown are described using the NM_000194.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-70_-69insCCTCCT r.(=) p.(=) g.133594272_133594273insCCTCCT Copied from the Exome Variant Server HPRT1_000001 13/6556 13/4236 0/2320
1 c.54C>A r.(?) p.(Asp18Glu) g.133607415C>A Copied from the Exome Variant Server HPRT1_000002 1/10561 1/6726 0/3835
1 c.141A>G r.(=) p.(=) g.133609217A>G Copied from the Exome Variant Server HPRT1_000003 2/10563 0/6728 2/3835
1 c.152G>A r.(?) p.(Arg51Gln) g.133609228G>A Copied from the Exome Variant Server HPRT1_000004 1/10563 0/6728 1/3835
1 c.183C>T r.(=) p.(=) g.133609259C>T Copied from the Exome Variant Server HPRT1_000005 1/10563 1/6728 0/3835
1 c.186T>C r.(=) p.(=) g.133609262T>C Copied from the Exome Variant Server HPRT1_000006 1/10563 1/6728 0/3835
1 c.318+21A>T r.(=) p.(=) g.133609415A>T Copied from the Exome Variant Server HPRT1_000007 1/10560 0/6726 1/3834
1 c.318+30A>C r.(=) p.(=) g.133609424A>C Copied from the Exome Variant Server HPRT1_000009 1/10562 0/6728 1/3834
1 c.319-36_319-33del r.(=) p.(=) g.133620459_133620462del Copied from the Exome Variant Server HPRT1_000011 47/8174 31/5379 16/2795
1 c.319-34_319-33del r.(=) p.(=) g.133620461_133620462del Copied from the Exome Variant Server HPRT1_000015 887/8174 587/5379 300/2795
1 c.319-34_319-33dup r.(=) p.(=) g.133620461_133620462dup Copied from the Exome Variant Server HPRT1_000013 86/8174 59/5379 27/2795
1 c.319-20del r.(=) p.(=) g.133620475del Copied from the Exome Variant Server HPRT1_000018 1299/9836 821/6315 478/3521
1 c.319-20dup r.(=) p.(=) g.133620475dup Copied from the Exome Variant Server HPRT1_000017 1956/9836 1233/6315 723/3521
1 c.319-20_319-19insTT r.(=) p.(=) g.133620475_133620476insTT Copied from the Exome Variant Server HPRT1_000020 499/9836 295/6315 204/3521
1 c.325C>A r.(?) p.(Gln109Lys) g.133620501C>A Copied from the Exome Variant Server HPRT1_000022 2/10560 2/6725 0/3835
1 c.368C>T r.(?) p.(Ser123Leu) g.133620544C>T Copied from the Exome Variant Server HPRT1_000024 1/10563 1/6728 0/3835
1 c.384+19A>G r.(=) p.(=) g.133620579A>G Copied from the Exome Variant Server HPRT1_000008 33/10561 0/6726 33/3835
1 c.384+22del r.(=) p.(=) g.133620582del Copied from the Exome Variant Server HPRT1_000010 157/10200 94/6479 63/3721
1 c.384+39A>G r.(=) p.(=) g.133620599A>G Copied from the Exome Variant Server HPRT1_000012 1/10558 1/6725 0/3833
1 c.384+41C>T r.(=) p.(=) g.133620601C>T Copied from the Exome Variant Server HPRT1_000014 1/10558 0/6725 1/3833
1 c.384+48A>G r.(=) p.(=) g.133620608A>G Copied from the Exome Variant Server HPRT1_000016 9/10557 8/6724 1/3833
1 c.384+147G>A r.(=) p.(=) g.133620707G>A Copied from the Exome Variant Server HPRT1_000019 59/4503 0/3095 59/1408
1 c.403-50T>C r.(=) p.(=) g.133627488T>C Copied from the Exome Variant Server HPRT1_000021 1/10563 1/6728 0/3835
1 c.403-27G>A r.(=) p.(=) g.133627511G>A Copied from the Exome Variant Server HPRT1_000023 1/10563 1/6728 0/3835
1 c.403-17G>A r.(=) p.(=) g.133627521G>A Copied from the Exome Variant Server HPRT1_000025 1/10563 0/6728 1/3835
1 c.480C>T r.(=) p.(=) g.133627615C>T Copied from the Exome Variant Server HPRT1_000026 33/10563 0/6728 33/3835
1 c.485+29T>C r.(=) p.(=) g.133627649T>C Copied from the Exome Variant Server HPRT1_000027 2/10563 2/6728 0/3835
1 c.508C>A r.(=) p.(=) g.133632442C>A Copied from the Exome Variant Server HPRT1_000028 1/10563 0/6728 1/3835
1 c.532+45C>A r.(=) p.(=) g.133632511C>A Copied from the Exome Variant Server HPRT1_000029 43/10563 41/6728 2/3835
1 c.610-13del r.(=) p.(=) g.133634047del Copied from the Exome Variant Server HPRT1_000030 42/10205 25/6484 17/3721
1 c.610-4A>G r.spl? p.? g.133634056A>G Copied from the Exome Variant Server HPRT1_000031 1/10563 1/6728 0/3835
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