Unique variants in gene AANAT

Information The variants shown are described using the NM_001088.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.-1668G>A r.(=) p.(=) g.74462217G>A Copied from the Exome Variant Server AANAT_000001 2/4566 0/3182 2/1384
1 c.-1650del r.(=) p.(=) g.74462235del Copied from the Exome Variant Server AANAT_000002 169/6982 50/4636 119/2346
1 c.-75-19C>T r.(=) p.(=) g.74464735C>T Copied from the Exome Variant Server AANAT_000003 25/4566 0/3182 25/1384
1 c.-51_-49del r.(=) p.(=) g.74464778_74464780del Copied from the Exome Variant Server AANAT_000004 17/12402 13/8190 4/4212
1 c.-42C>T r.(=) p.(=) g.74464787C>T Copied from the Exome Variant Server AANAT_000005 2/12944 2/8568 0/4376
1 c.-28G>A r.(=) p.(=) g.74464801G>A Copied from the Exome Variant Server AANAT_000006 1/12968 0/8578 1/4390
1 c.-26G>A r.(=) p.(=) g.74464803G>A Copied from the Exome Variant Server AANAT_000007 2/12972 0/8582 2/4390
1 c.-23C>T r.(=) p.(=) g.74464806C>T Copied from the Exome Variant Server AANAT_000008 8/12978 0/8584 8/4394
1 c.8C>T r.(?) p.(Thr3Met) g.74464836C>T Copied from the Exome Variant Server AANAT_000009 241/12994 7/8596 234/4398
1 c.9G>A r.(=) p.(=) g.74464837G>A Copied from the Exome Variant Server AANAT_000010 7/12994 6/8596 1/4398
1 c.37G>T r.(?) p.(Ala13Ser) g.74464865G>T Copied from the Exome Variant Server AANAT_000011 4/13006 3/8600 1/4406
1 c.44G>A r.(?) p.(Arg15His) g.74464872G>A Copied from the Exome Variant Server AANAT_000012 1/13006 0/8600 1/4406
1 c.60C>T r.(=) p.(=) g.74464888C>T Copied from the Exome Variant Server AANAT_000013 1/13006 1/8600 0/4406
1 c.63C>T r.(=) p.(=) g.74464891C>T Copied from the Exome Variant Server AANAT_000014 3/13006 3/8600 0/4406
1 c.82C>T r.(?) p.(Arg28Trp) g.74464910C>T Copied from the Exome Variant Server AANAT_000015 1/13006 0/8600 1/4406
1 c.83G>A r.(?) p.(Arg28Gln) g.74464911G>A Copied from the Exome Variant Server AANAT_000016 1/13004 0/8600 1/4404
1 c.86G>A r.(?) p.(Arg29His) g.74464914G>A Copied from the Exome Variant Server AANAT_000017 14/13006 0/8600 14/4406
1 c.92C>T r.(?) p.(Thr31Ile) g.74464920C>T Copied from the Exome Variant Server AANAT_000018 4/13006 3/8600 1/4406
1 c.96C>T r.(=) p.(=) g.74464924C>T Copied from the Exome Variant Server AANAT_000020 6/13006 0/8600 6/4406
1 c.125C>T r.(?) p.(Pro42Leu) g.74464953C>T Copied from the Exome Variant Server AANAT_000019 1/13006 0/8600 1/4406
1 c.132C>T r.(=) p.(=) g.74464960C>T Copied from the Exome Variant Server AANAT_000021 2/13006 0/8600 2/4406
1 c.133G>A r.(?) p.(Ala45Thr) g.74464961G>A Copied from the Exome Variant Server AANAT_000022 1/13006 1/8600 0/4406
1 c.141C>T r.(=) p.(=) g.74464969C>T Copied from the Exome Variant Server AANAT_000023 17/13006 0/8600 17/4406
1 c.153C>T r.(=) p.(=) g.74464981C>T Copied from the Exome Variant Server AANAT_000024 1/13006 1/8600 0/4406
1 c.157C>T r.(?) p.(Arg53Cys) g.74464985C>T Copied from the Exome Variant Server AANAT_000025 1/13006 1/8600 0/4406
1 c.163+47G>T r.(=) p.(=) g.74465038G>T Copied from the Exome Variant Server AANAT_000026 1/13004 0/8598 1/4406
1 c.164-45G>A r.(=) p.(=) g.74465210G>A Copied from the Exome Variant Server AANAT_000027 4/13006 4/8600 0/4406
1 c.164-36C>T r.(=) p.(=) g.74465219C>T Copied from the Exome Variant Server AANAT_000028 1/13006 0/8600 1/4406
1 c.164-35G>A r.(=) p.(=) g.74465220G>A Copied from the Exome Variant Server AANAT_000029 2/13006 1/8600 1/4406
1 c.164-12C>G r.(=) p.(=) g.74465243C>G Copied from the Exome Variant Server AANAT_000030 73/13006 65/8600 8/4406
1 c.174C>T r.(=) p.(=) g.74465265C>T Copied from the Exome Variant Server AANAT_000031 1/13006 0/8600 1/4406
1 c.183C>A r.(=) p.(=) g.74465274C>A Copied from the Exome Variant Server AANAT_000032 1/13006 0/8600 1/4406
1 c.184G>A r.(?) p.(Val62Ile) g.74465275G>A Copied from the Exome Variant Server AANAT_000033 2/13006 1/8600 1/4406
1 c.195G>C r.(=) p.(=) g.74465286G>C Copied from the Exome Variant Server AANAT_000034 1/13006 1/8600 0/4406
1 c.230G>A r.(?) p.(Cys77Tyr) g.74465321G>A Copied from the Exome Variant Server AANAT_000035 1/13006 1/8600 0/4406
1 c.256G>A r.(?) p.(Glu86Lys) g.74465347G>A Copied from the Exome Variant Server AANAT_000036 1/13006 1/8600 0/4406
1 c.285C>G r.(?) p.(Ile95Met) g.74465376C>G Copied from the Exome Variant Server AANAT_000037 1/13006 0/8600 1/4406
1 c.303G>A r.(=) p.(=) g.74465394G>A Copied from the Exome Variant Server AANAT_000038 1/13006 1/8600 0/4406
1 c.318+1G>A r.spl? p.? g.74465410G>A Copied from the Exome Variant Server AANAT_000039 1/13006 1/8600 0/4406
1 c.318+19C>T r.(=) p.(=) g.74465428C>T Copied from the Exome Variant Server AANAT_000040 13/13006 0/8600 13/4406
1 c.318+39T>A r.(=) p.(=) g.74465448T>A Copied from the Exome Variant Server AANAT_000041 525/13004 139/8598 386/4406
1 c.318+50A>C r.(=) p.(=) g.74465459A>C Copied from the Exome Variant Server AANAT_000042 2/13002 2/8596 0/4406
1 c.319-40G>T r.(=) p.(=) g.74465707G>T Copied from the Exome Variant Server AANAT_000043 1/12126 1/8006 0/4120
1 c.329C>T r.(?) p.(Thr110Met) g.74465757C>T Copied from the Exome Variant Server AANAT_000044 5/12752 0/8412 5/4340
1 c.330G>A r.(=) p.(=) g.74465758G>A Copied from the Exome Variant Server AANAT_000045 1/12772 1/8426 0/4346
1 c.336C>T r.(=) p.(=) g.74465764C>T Copied from the Exome Variant Server AANAT_000046 1/12832 1/8462 0/4370
1 c.366T>C r.(=) p.(=) g.74465794T>C Copied from the Exome Variant Server AANAT_000047 8/12834 5/8486 3/4348
1 c.383G>A r.(?) p.(Arg128His) g.74465811G>A Copied from the Exome Variant Server AANAT_000048 4/12822 1/8472 3/4350
1 c.452C>T r.(?) p.(Pro151Leu) g.74465880C>T Copied from the Exome Variant Server AANAT_000049 2/12882 1/8518 1/4364
1 c.453G>A r.(=) p.(=) g.74465881G>A Copied from the Exome Variant Server AANAT_000050 1/12916 1/8542 0/4374
1 c.468C>T r.(=) p.(=) g.74465896C>T Copied from the Exome Variant Server AANAT_000051 3/12964 3/8572 0/4392
1 c.471G>A r.(=) p.(=) g.74465899G>A Copied from the Exome Variant Server AANAT_000052 6/12980 6/8584 0/4396
1 c.474C>G r.(=) p.(=) g.74465902C>G Copied from the Exome Variant Server AANAT_000053 5/12984 0/8584 5/4400
1 c.476T>C r.(?) p.(Met159Thr) g.74465904T>C Copied from the Exome Variant Server AANAT_000054 1/12982 1/8584 0/4398
1 c.481G>A r.(?) p.(Glu161Lys) g.74465909G>A Copied from the Exome Variant Server AANAT_000055 3/12988 0/8590 3/4398
1 c.483G>T r.(?) p.(Glu161Asp) g.74465911G>T Copied from the Exome Variant Server AANAT_000056 1/12994 1/8592 0/4402
1 c.487G>A r.(?) p.(Ala163Thr) g.74465915G>A Copied from the Exome Variant Server AANAT_000057 1/12996 0/8594 1/4402
1 c.488C>T r.(?) p.(Ala163Val) g.74465916C>T Copied from the Exome Variant Server AANAT_000058 51/12996 48/8594 3/4402
1 c.507G>A r.(=) p.(=) g.74465935G>A Copied from the Exome Variant Server AANAT_000059 1/12992 0/8588 1/4404
1 c.543C>A r.(=) p.(=) g.74465971C>A Copied from the Exome Variant Server AANAT_000060 162/12990 1/8590 161/4400
1 c.556C>T r.(?) p.(Leu186Phe) g.74465984C>T Copied from the Exome Variant Server AANAT_000061 2/12980 0/8578 2/4402
1 c.585G>A r.(=) p.(=) g.74466013G>A Copied from the Exome Variant Server AANAT_000062 2/12928 0/8560 2/4368
1 c.586C>T r.(?) p.(Arg196Trp) g.74466014C>T Copied from the Exome Variant Server AANAT_000063 1/12926 1/8556 0/4370
1 c.*28T>C r.(=) p.(=) g.74466080T>C Copied from the Exome Variant Server AANAT_000064 1/12624 0/8338 1/4286
1 c.*33C>T r.(=) p.(=) g.74466085C>T Copied from the Exome Variant Server AANAT_000065 54/12596 50/8320 4/4276
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