Full data view for gene ARR3

Information The variants shown are described using the NM_004312.2 transcript reference sequence.

103 entries on 2 pages. Showing entries 1 - 100.
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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.-30-51G>T r.(=) p.(=) g.69489155G>T Copied from the Exome Variant Server ARR3_000001 63/3600 58/2391 5/1209 - - - - - - -
?/? c.-30-28T>C r.(=) p.(=) g.69489178T>C Copied from the Exome Variant Server ARR3_000002 8/3600 0/2391 8/1209 - - - - - - -
?/? c.-14A>G r.(=) p.(=) g.69489222A>G Copied from the Exome Variant Server ARR3_000003 8/10563 0/6728 8/3835 - - - - - - -
?/? c.6C>A r.(=) p.(=) g.69489241C>A Copied from the Exome Variant Server ARR3_000004 3/10563 3/6728 0/3835 - - - - - - -
?/? c.8+22_8+27del r.(=) p.(=) g.69489265_69489270del Copied from the Exome Variant Server ARR3_000005 6/10205 4/6484 2/3721 - - - - - - -
?/? c.8+34A>T r.(=) p.(=) g.69489277A>T Copied from the Exome Variant Server ARR3_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.8+38C>T r.(=) p.(=) g.69489281C>T Copied from the Exome Variant Server ARR3_000007 4/10563 4/6728 0/3835 - - - - - - -
?/? c.9-51C>T r.(=) p.(=) g.69489461C>T Copied from the Exome Variant Server ARR3_000008 3/10556 3/6727 0/3829 - - - - - - -
?/? c.9-29C>G r.(=) p.(=) g.69489483C>G Copied from the Exome Variant Server ARR3_000009 3/10563 3/6728 0/3835 - - - - - - -
?/? c.27C>T r.(=) p.(=) g.69489530C>T Copied from the Exome Variant Server ARR3_000010 843/10563 395/6728 448/3835 - - - - - - -
?/? c.39+46T>G r.(=) p.(=) g.69489588T>G Copied from the Exome Variant Server ARR3_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.39+48G>A r.(=) p.(=) g.69489590G>A Copied from the Exome Variant Server ARR3_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.75C>T r.(=) p.(=) g.69489728C>T Copied from the Exome Variant Server ARR3_000015 10/10563 0/6728 10/3835 - - - - - - -
?/? c.100+7G>A r.(=) p.(=) g.69489760G>A Copied from the Exome Variant Server ARR3_000017 1/10563 0/6728 1/3835 - - - - - - -
?/? c.101-45G>T r.(=) p.(=) g.69489905G>T Copied from the Exome Variant Server ARR3_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.109G>A r.(?) p.(Val37Ile) g.69489958G>A Copied from the Exome Variant Server ARR3_000021 2/10563 0/6728 2/3835 - - - - - - -
?/? c.132A>C r.(?) p.(Leu44Phe) g.69489981A>C Copied from the Exome Variant Server ARR3_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.140G>A r.(?) p.(Arg47Gln) g.69489989G>A Copied from the Exome Variant Server ARR3_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.145+28T>C r.(=) p.(=) g.69490022T>C Copied from the Exome Variant Server ARR3_000012 27/10563 0/6728 27/3835 - - - - - - -
?/? c.146-23C>G r.(=) p.(=) g.69495909C>G Copied from the Exome Variant Server ARR3_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.153C>T r.(=) p.(=) g.69495939C>T Copied from the Exome Variant Server ARR3_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.172C>T r.(?) p.(Arg58Cys) g.69495958C>T Copied from the Exome Variant Server ARR3_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.173G>A r.(?) p.(Arg58His) g.69495959G>A Copied from the Exome Variant Server ARR3_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.181C>T r.(?) p.(Arg61Cys) g.69495967C>T Copied from the Exome Variant Server ARR3_000022 2/10563 2/6728 0/3835 - - - - - - -
?/? c.213C>T r.(=) p.(=) g.69495999C>T Copied from the Exome Variant Server ARR3_000024 2/10563 0/6728 2/3835 - - - - - - -
?/? c.294G>A r.(=) p.(=) g.69496080G>A Copied from the Exome Variant Server ARR3_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.346-55T>C r.(=) p.(=) g.69496228T>C Copied from the Exome Variant Server ARR3_000027 2261/3600 1819/2391 442/1209 - - - - - - -
?/? c.346-13T>G r.(=) p.(=) g.69496270T>G Copied from the Exome Variant Server ARR3_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.346-4C>T r.spl? p.? g.69496279C>T Copied from the Exome Variant Server ARR3_000029 36/10563 0/6728 36/3835 - - - - - - -
?/? c.346-3T>C r.spl? p.? g.69496280T>C Copied from the Exome Variant Server ARR3_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.346A>G r.(?) p.(Met116Val) g.69496283A>G Copied from the Exome Variant Server ARR3_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.405+64C>A r.(=) p.(=) g.69496406C>A Copied from the Exome Variant Server ARR3_000032 1/3600 0/2391 1/1209 - - - - - - -
?/? c.417T>G r.(?) p.(Ile139Met) g.69496530T>G Copied from the Exome Variant Server ARR3_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.431A>T r.(?) p.(Lys144Met) g.69496544A>T Copied from the Exome Variant Server ARR3_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.470A>G r.(?) p.(Lys157Arg) g.69496583A>G Copied from the Exome Variant Server ARR3_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.473+27C>T r.(=) p.(=) g.69496613C>T Copied from the Exome Variant Server ARR3_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.473+34C>G r.(=) p.(=) g.69496620C>G Copied from the Exome Variant Server ARR3_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.473+44C>T r.(=) p.(=) g.69496630C>T Copied from the Exome Variant Server ARR3_000038 209/10563 1/6728 208/3835 - - - - - - -
?/? c.474-51del r.(=) p.(=) g.69497193del Copied from the Exome Variant Server ARR3_000039 1/10205 0/6484 1/3721 - - - - - - -
?/? c.474-30G>A r.(=) p.(=) g.69497214G>A Copied from the Exome Variant Server ARR3_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.474-17T>C r.(=) p.(=) g.69497227T>C Copied from the Exome Variant Server ARR3_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.474-10C>G r.(=) p.(=) g.69497234C>G Copied from the Exome Variant Server ARR3_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.485G>A r.(?) p.(Arg162Gln) g.69497255G>A Copied from the Exome Variant Server ARR3_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.494T>C r.(?) p.(Val165Ala) g.69497264T>C Copied from the Exome Variant Server ARR3_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.497G>A r.(?) p.(Arg166Gln) g.69497267G>A Copied from the Exome Variant Server ARR3_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.556C>T r.(?) p.(Arg186Cys) g.69497326C>T Copied from the Exome Variant Server ARR3_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.562C>T r.(?) p.(Leu188Phe) g.69497332C>T Copied from the Exome Variant Server ARR3_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.577C>T r.(?) p.(Pro193Ser) g.69497347C>T Copied from the Exome Variant Server ARR3_000048 2/10563 2/6728 0/3835 - - - - - - -
?/? c.609+12C>G r.(=) p.(=) g.69497391C>G Copied from the Exome Variant Server ARR3_000049 71/10562 1/6728 70/3834 - - - - - - -
?/? c.609+13C>T r.(=) p.(=) g.69497392C>T Copied from the Exome Variant Server ARR3_000050 1/10562 0/6728 1/3834 - - - - - - -
?/? c.609+30C>A r.(=) p.(=) g.69497409C>A Copied from the Exome Variant Server ARR3_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.609+32C>T r.(=) p.(=) g.69497411C>T Copied from the Exome Variant Server ARR3_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.610-14C>T r.(=) p.(=) g.69497552C>T Copied from the Exome Variant Server ARR3_000053 21/10561 20/6726 1/3835 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.69497577C>T Copied from the Exome Variant Server ARR3_000054 38/10563 1/6728 37/3835 - - - - - - -
?/? c.622G>A r.(?) p.(Gly208Arg) g.69497578G>A Copied from the Exome Variant Server ARR3_000055 2/10563 2/6728 0/3835 - - - - - - -
?/? c.649A>G r.(?) p.(Ile217Val) g.69497605A>G Copied from the Exome Variant Server ARR3_000056 3/10563 3/6728 0/3835 - - - - - - -
?/? c.666C>A r.(?) p.(Asn222Lys) g.69497622C>A Copied from the Exome Variant Server ARR3_000057 2/10563 2/6728 0/3835 - - - - - - -
?/? c.669G>A r.(=) p.(=) g.69497625G>A Copied from the Exome Variant Server ARR3_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.695-32_695-31insTA r.(=) p.(=) g.69497884_69497885insTA Copied from the Exome Variant Server ARR3_000059 2/10205 2/6484 0/3721 - - - - - - -
?/? c.715G>A r.(?) p.(Val239Ile) g.69497936G>A Copied from the Exome Variant Server ARR3_000060 1/10563 0/6728 1/3835 - - - - - - -
?/? c.767C>T r.(?) p.(Thr256Met) g.69497988C>T Copied from the Exome Variant Server ARR3_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.767+22G>T r.(=) p.(=) g.69498010G>T Copied from the Exome Variant Server ARR3_000062 2/10563 0/6728 2/3835 - - - - - - -
?/? c.767+29G>C r.(=) p.(=) g.69498017G>C Copied from the Exome Variant Server ARR3_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.768-40C>A r.(=) p.(=) g.69498314C>A Copied from the Exome Variant Server ARR3_000064 1/10562 1/6727 0/3835 - - - - - - -
?/? c.836G>A r.(?) p.(Cys279Tyr) g.69498422G>A Copied from the Exome Variant Server ARR3_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.869T>C r.(?) p.(Leu290Pro) g.69498455T>C Copied from the Exome Variant Server ARR3_000067 3/10563 3/6728 0/3835 - - - - - - -
?/? c.896C>G r.(?) p.(Ser299Cys) g.69498482C>G Copied from the Exome Variant Server ARR3_000070 100/10563 88/6728 12/3835 - - - - - - -
?/? c.905+21C>T r.(=) p.(=) g.69498512C>T Copied from the Exome Variant Server ARR3_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.906-11A>G r.(=) p.(=) g.69500034A>G Copied from the Exome Variant Server ARR3_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.906-4C>G r.spl? p.? g.69500041C>G Copied from the Exome Variant Server ARR3_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.915G>A r.(=) p.(=) g.69500054G>A Copied from the Exome Variant Server ARR3_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.989+12T>A r.(=) p.(=) g.69500140T>A Copied from the Exome Variant Server ARR3_000071 1/10563 0/6728 1/3835 - - - - - - -
?/? c.989+27G>C r.(=) p.(=) g.69500155G>C Copied from the Exome Variant Server ARR3_000073 1/10563 0/6728 1/3835 - - - - - - -
?/? c.989+33G>A r.(=) p.(=) g.69500161G>A Copied from the Exome Variant Server ARR3_000074 1/10563 0/6728 1/3835 - - - - - - -
?/? c.990-35C>T r.(=) p.(=) g.69500374C>T Copied from the Exome Variant Server ARR3_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.990-32G>A r.(=) p.(=) g.69500377G>A Copied from the Exome Variant Server ARR3_000076 57/10563 55/6728 2/3835 - - - - - - -
?/? c.990-6C>G r.(=) p.(=) g.69500403C>G Copied from the Exome Variant Server ARR3_000077 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1013+15G>A r.(=) p.(=) g.69500447G>A Copied from the Exome Variant Server ARR3_000078 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1014-41G>A r.(=) p.(=) g.69500575G>A Copied from the Exome Variant Server ARR3_000079 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1014-36G>T r.(=) p.(=) g.69500580G>T Copied from the Exome Variant Server ARR3_000080 12/10563 0/6728 12/3835 - - - - - - -
?/? c.1014-33A>G r.(=) p.(=) g.69500583A>G Copied from the Exome Variant Server ARR3_000081 846/10563 397/6728 449/3835 - - - - - - -
?/? c.1014-22C>T r.(=) p.(=) g.69500594C>T Copied from the Exome Variant Server ARR3_000082 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1015G>A r.(?) p.(Asp339Asn) g.69500617G>A Copied from the Exome Variant Server ARR3_000083 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1033C>T r.(?) p.(Pro345Ser) g.69500635C>T Copied from the Exome Variant Server ARR3_000084 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1052C>G r.(?) p.(Pro351Arg) g.69500654C>G Copied from the Exome Variant Server ARR3_000086 17/10563 17/6728 0/3835 - - - - - - -
?/? c.1066+30G>A r.(=) p.(=) g.69500698G>A Copied from the Exome Variant Server ARR3_000088 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1067-96_1067-95insGA r.(=) p.(=) g.69500853_69500854insGA Copied from the Exome Variant Server ARR3_000090 9/10023 6/6358 3/3665 - - - - - - -
?/? c.1067-95_1067-94insC r.(=) p.(=) g.69500854_69500855insC Copied from the Exome Variant Server ARR3_000092 9/10048 4/6378 5/3670 - - - - - - -
?/? c.1067-92G>C r.(=) p.(=) g.69500857G>C Copied from the Exome Variant Server ARR3_000094 155/3600 143/2391 12/1209 - - - - - - -
?/? c.1067-92_1067-91insA r.(=) p.(=) g.69500857_69500858insA Copied from the Exome Variant Server ARR3_000098 22/10092 1/6402 21/3690 - - - - - - -
?/? c.1067-92_1067-91insC r.(=) p.(=) g.69500857_69500858insC Copied from the Exome Variant Server ARR3_000099 245/10092 221/6402 24/3690 - - - - - - -
?/? c.1067-92_1067-91insT r.(=) p.(=) g.69500857_69500858insT Copied from the Exome Variant Server ARR3_000096 17/10092 11/6402 6/3690 - - - - - - -
?/? c.1067-90_1067-89insC r.(=) p.(=) g.69500859_69500860insC Copied from the Exome Variant Server ARR3_000085 5/10107 0/6413 5/3694 - - - - - - -
?/? c.1067-90_1067-89insT r.(=) p.(=) g.69500859_69500860insT Copied from the Exome Variant Server ARR3_000101 21/10107 11/6413 10/3694 - - - - - - -
?/? c.1067-44A>G r.(=) p.(=) g.69500905A>G Copied from the Exome Variant Server ARR3_000087 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1067-32_1067-31insT r.(=) p.(=) g.69500917_69500918insT Copied from the Exome Variant Server ARR3_000089 1/10205 1/6484 0/3721 - - - - - - -
?/? c.1076+65C>T r.(=) p.(=) g.69501023C>T Copied from the Exome Variant Server ARR3_000091 1/3600 0/2391 1/1209 - - - - - - -
?/? c.1095C>T r.(=) p.(=) g.69501544C>T Copied from the Exome Variant Server ARR3_000093 2/10550 2/6722 0/3828 - - - - - - -
?/? c.1106C>T r.(?) p.(Thr369Met) g.69501555C>T Copied from the Exome Variant Server ARR3_000095 1/10547 1/6718 0/3829 - - - - - - -
?/? c.1117G>A r.(?) p.(Glu373Lys) g.69501566G>A Copied from the Exome Variant Server ARR3_000097 1/10548 0/6720 1/3828 - - - - - - -
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