Full data view for 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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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

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