Unique variants in gene ALKBH7

Information The variants shown are described using the NM_032306.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-49_-48insG r.(=) p.(=) g.6372783_6372784insG Copied from the Exome Variant Server ALKBH7_000001 108/7498 70/5146 38/2352
1 c.51G>A r.(?) p.(Trp17*) g.6372882G>A Copied from the Exome Variant Server ALKBH7_000002 2/11906 0/7906 2/4000
1 c.140C>T r.(?) p.(Thr47Met) g.6372971C>T Copied from the Exome Variant Server ALKBH7_000003 1/12630 0/8382 1/4248
1 c.205-31G>T r.(=) p.(=) g.6374183G>T Copied from the Exome Variant Server ALKBH7_000004 3/12918 0/8540 3/4378
1 c.205-23G>A r.(=) p.(=) g.6374191G>A Copied from the Exome Variant Server ALKBH7_000005 1/12936 1/8552 0/4384
1 c.205-10C>G r.(=) p.(=) g.6374204C>G Copied from the Exome Variant Server ALKBH7_000006 1/12978 0/8588 1/4390
1 c.217T>G r.(?) p.(Phe73Val) g.6374226T>G Copied from the Exome Variant Server ALKBH7_000007 1/12996 0/8594 1/4402
1 c.220C>A r.(=) p.(=) g.6374229C>A Copied from the Exome Variant Server ALKBH7_000008 78/12990 0/8590 78/4400
1 c.239G>A r.(?) p.(Arg80His) g.6374248G>A Copied from the Exome Variant Server ALKBH7_000009 1/13000 0/8598 1/4402
1 c.256C>T r.(?) p.(Arg86Trp) g.6374265C>T Copied from the Exome Variant Server ALKBH7_000010 1/12996 1/8594 0/4402
1 c.258G>A r.(=) p.(=) g.6374267G>A Copied from the Exome Variant Server ALKBH7_000011 2/12996 0/8594 2/4402
1 c.297C>T r.(=) p.(=) g.6374306C>T Copied from the Exome Variant Server ALKBH7_000012 5/12998 2/8592 3/4406
1 c.312_314del r.(?) p.(Ser106del) g.6374321_6374323del Copied from the Exome Variant Server ALKBH7_000013 7/12516 3/8254 4/4262
1 c.321G>A r.(=) p.(=) g.6374330G>A Copied from the Exome Variant Server ALKBH7_000014 1/13006 1/8600 0/4406
1 c.344G>A r.(?) p.(Arg115His) g.6374353G>A Copied from the Exome Variant Server ALKBH7_000015 1/13006 1/8600 0/4406
1 c.378+9A>G r.(=) p.(=) g.6374396A>G Copied from the Exome Variant Server ALKBH7_000016 7/13006 7/8600 0/4406
1 c.378+23G>A r.(=) p.(=) g.6374410G>A Copied from the Exome Variant Server ALKBH7_000017 1/13006 1/8600 0/4406
1 c.378+38G>A r.(=) p.(=) g.6374425G>A Copied from the Exome Variant Server ALKBH7_000018 1/13006 1/8600 0/4406
1 c.378+40G>T r.(=) p.(=) g.6374427G>T Copied from the Exome Variant Server ALKBH7_000019 5/13006 5/8600 0/4406
1 c.379-28C>T r.(=) p.(=) g.6374448C>T Copied from the Exome Variant Server ALKBH7_000020 1/13006 0/8600 1/4406
1 c.379-22C>T r.(=) p.(=) g.6374454C>T Copied from the Exome Variant Server ALKBH7_000021 34/13006 1/8600 33/4406
1 c.379-14C>T r.(=) p.(=) g.6374462C>T Copied from the Exome Variant Server ALKBH7_000022 6/13006 5/8600 1/4406
1 c.379-13G>C r.(=) p.(=) g.6374463G>C Copied from the Exome Variant Server ALKBH7_000023 81/13006 3/8600 78/4406
1 c.379-1G>T r.spl? p.? g.6374475G>T Copied from the Exome Variant Server ALKBH7_000024 1/13006 1/8600 0/4406
1 c.394A>G r.(?) p.(Ile132Val) g.6374491A>G Copied from the Exome Variant Server ALKBH7_000025 3/13006 0/8600 3/4406
1 c.399C>T r.(=) p.(=) g.6374496C>T Copied from the Exome Variant Server ALKBH7_000026 284/13006 1/8600 283/4406
1 c.457G>A r.(?) p.(Glu153Lys) g.6374554G>A Copied from the Exome Variant Server ALKBH7_000027 18/13006 0/8600 18/4406
1 c.503+5C>T r.spl? p.? g.6374605C>T Copied from the Exome Variant Server ALKBH7_000028 3/13006 0/8600 3/4406
1 c.504-32T>C r.(=) p.(=) g.6374790T>C Copied from the Exome Variant Server ALKBH7_000029 1/13006 1/8600 0/4406
1 c.504-24G>T r.(=) p.(=) g.6374798G>T Copied from the Exome Variant Server ALKBH7_000030 1/13006 1/8600 0/4406
1 c.504-9T>C r.(=) p.(=) g.6374813T>C Copied from the Exome Variant Server ALKBH7_000031 4730/13006 1394/8600 3336/4406
1 c.506G>T r.(?) p.(Gly169Val) g.6374824G>T Copied from the Exome Variant Server ALKBH7_000032 1/13006 1/8600 0/4406
1 c.515G>C r.(?) p.(Arg172Pro) g.6374833G>C Copied from the Exome Variant Server ALKBH7_000033 1/13006 1/8600 0/4406
1 c.519T>C r.(=) p.(=) g.6374837T>C Copied from the Exome Variant Server ALKBH7_000034 72/13006 0/8600 72/4406
1 c.542G>A r.(?) p.(Arg181Gln) g.6374860G>A Copied from the Exome Variant Server ALKBH7_000035 1/13006 0/8600 1/4406
1 c.572G>A r.(?) p.(Arg191Gln) g.6374890G>A Copied from the Exome Variant Server ALKBH7_000036 862/13006 780/8600 82/4406
1 c.580C>T r.(?) p.(Arg194Trp) g.6374898C>T Copied from the Exome Variant Server ALKBH7_000037 1/13006 1/8600 0/4406
1 c.586C>T r.(?) p.(Arg196Trp) g.6374904C>T Copied from the Exome Variant Server ALKBH7_000038 3/13006 3/8600 0/4406
1 c.589C>G r.(?) p.(Arg197Gly) g.6374907C>G Copied from the Exome Variant Server ALKBH7_000039 1/13006 0/8600 1/4406
1 c.651G>A r.(=) p.(=) g.6374969G>A Copied from the Exome Variant Server ALKBH7_000040 1/12996 1/8594 0/4402
1 c.*2C>T r.(=) p.(=) g.6374986C>T Copied from the Exome Variant Server ALKBH7_000041 1/12984 1/8586 0/4398
1 c.*26T>G r.(=) p.(=) g.6375010T>G Copied from the Exome Variant Server ALKBH7_000042 6/12956 0/8558 6/4398
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