Unique variants in gene AADAT

Information The variants shown are described using the NM_016228.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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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.-48A>G r.(=) p.(=) g.171010889T>C Copied from the Exome Variant Server AADAT_000090 1/13006 1/8600 0/4406
1 c.-47G>A r.(=) p.(=) g.171010888C>T Copied from the Exome Variant Server AADAT_000089 1/13006 1/8600 0/4406
1 c.-38C>A r.(=) p.(=) g.171010879G>T Copied from the Exome Variant Server AADAT_000088 1/13006 1/8600 0/4406
1 c.-19T>G r.(=) p.(=) g.171010860A>C Copied from the Exome Variant Server AADAT_000087 3/13006 3/8600 0/4406
1 c.60G>T r.(=) p.(=) g.171010782C>A Copied from the Exome Variant Server AADAT_000086 1/13006 0/8600 1/4406
1 c.67+9C>T r.(=) p.(=) g.171010766G>A Copied from the Exome Variant Server AADAT_000085 1/13006 1/8600 0/4406
1 c.67+23C>T r.(=) p.(=) g.171010752G>A Copied from the Exome Variant Server AADAT_000084 1/13006 0/8600 1/4406
1 c.67+65G>A r.(=) p.(=) g.171010710C>T Copied from the Exome Variant Server AADAT_000083 2/4566 0/3182 2/1384
1 c.68-35A>G r.(=) p.(=) g.171009750T>C Copied from the Exome Variant Server AADAT_000082 6/13006 6/8600 0/4406
1 c.68-19T>A r.(=) p.(=) g.171009734A>T Copied from the Exome Variant Server AADAT_000081 1/13006 0/8600 1/4406
1 c.68-17T>C r.(=) p.(=) g.171009732A>G Copied from the Exome Variant Server AADAT_000080 1/13006 1/8600 0/4406
1 c.93A>G r.(=) p.(=) g.171009690T>C Copied from the Exome Variant Server AADAT_000079 1/13006 1/8600 0/4406
1 c.96G>A r.(=) p.(=) g.171009687C>T Copied from the Exome Variant Server AADAT_000078 4/13006 0/8600 4/4406
1 c.102C>T r.(=) p.(=) g.171009681G>A Copied from the Exome Variant Server AADAT_000077 1/13006 0/8600 1/4406
1 c.196G>C r.(?) p.(Glu66Gln) g.171009587C>G Copied from the Exome Variant Server AADAT_000076 1/13006 1/8600 0/4406
1 c.236+9C>A r.(=) p.(=) g.171009538G>T Copied from the Exome Variant Server AADAT_000075 1/13006 1/8600 0/4406
1 c.236+16T>C r.(=) p.(=) g.171009531A>G Copied from the Exome Variant Server AADAT_000074 1/13006 1/8600 0/4406
1 c.237-31T>C r.(=) p.(=) g.171008430A>G Copied from the Exome Variant Server AADAT_000073 1/13004 1/8600 0/4404
1 c.237-32_237-30del r.(=) p.(=) g.171008429_171008431del Copied from the Exome Variant Server AADAT_000072 1/12516 1/8254 0/4262
1 c.237-19T>G r.(=) p.(=) g.171008418A>C Copied from the Exome Variant Server AADAT_000071 1/13002 1/8598 0/4404
1 c.282G>A r.(=) p.(=) g.171008354C>T Copied from the Exome Variant Server AADAT_000070 14/13006 0/8600 14/4406
1 c.318A>G r.(=) p.(=) g.171008318T>C Copied from the Exome Variant Server AADAT_000069 1/13006 0/8600 1/4406
1 c.354A>G r.(=) p.(=) g.171008282T>C Copied from the Exome Variant Server AADAT_000068 1/13006 1/8600 0/4406
1 c.370-41C>T r.(=) p.(=) g.170999775G>A Copied from the Exome Variant Server AADAT_000067 2/13006 0/8600 2/4406
1 c.370-23C>G r.(=) p.(=) g.170999757G>C Copied from the Exome Variant Server AADAT_000066 4/13006 4/8600 0/4406
1 c.370-10C>A r.(=) p.(=) g.170999744G>T Copied from the Exome Variant Server AADAT_000065 70/13006 0/8600 70/4406
1 c.445-45C>T r.(=) p.(=) g.170994541G>A Copied from the Exome Variant Server AADAT_000064 299/13004 0/8600 299/4404
1 c.445-45del r.(=) p.(=) g.170994541del Copied from the Exome Variant Server AADAT_000063 1/12518 1/8254 0/4264
1 c.445-30C>T r.(=) p.(=) g.170994526G>A Copied from the Exome Variant Server AADAT_000062 1/13006 0/8600 1/4406
1 c.445-26C>T r.(=) p.(=) g.170994522G>A Copied from the Exome Variant Server AADAT_000061 19/13006 0/8600 19/4406
1 c.459C>T r.(=) p.(=) g.170994482G>A Copied from the Exome Variant Server AADAT_000060 3/13006 0/8600 3/4406
1 c.648C>T r.(=) p.(=) g.170994293G>A Copied from the Exome Variant Server AADAT_000059 5/13006 0/8600 5/4406
1 c.654+17G>A r.(=) p.(=) g.170994270C>T Copied from the Exome Variant Server AADAT_000058 1/13006 0/8600 1/4406
1 c.654+26A>T r.(=) p.(=) g.170994261T>A Copied from the Exome Variant Server AADAT_000057 1/13006 1/8600 0/4406
1 c.655-40_655-37del r.(=) p.(=) g.170991840_170991843del Copied from the Exome Variant Server AADAT_000054 7/12064 3/8032 4/4032
1 c.655-36_655-33del r.(=) p.(=) g.170991836_170991839del Copied from the Exome Variant Server AADAT_000052 4/12322 0/8140 4/4182
1 c.655-12_655-9del r.(=) p.(=) g.170991812_170991815del Copied from the Exome Variant Server AADAT_000050 2742/12454 2112/8212 630/4242
1 c.719A>G r.(?) p.(Lys240Arg) g.170991739T>C Copied from the Exome Variant Server AADAT_000048 1/12982 0/8580 1/4402
1 c.720+9T>G r.(=) p.(=) g.170991729A>C Copied from the Exome Variant Server AADAT_000046 2/12976 2/8574 0/4402
1 c.721-51G>A r.(=) p.(=) g.170990432C>T Copied from the Exome Variant Server AADAT_000056 3/13002 2/8600 1/4402
1 c.727G>A r.(?) p.(Val243Ile) g.170990375C>T Copied from the Exome Variant Server AADAT_000055 80/13006 72/8600 8/4406
1 c.803+10T>C r.(=) p.(=) g.170990289A>G Copied from the Exome Variant Server AADAT_000053 2/13006 1/8600 1/4406
1 c.803+27G>A r.(=) p.(=) g.170990272C>T Copied from the Exome Variant Server AADAT_000051 1/13006 1/8600 0/4406
1 c.803+41A>C r.(=) p.(=) g.170990258T>G Copied from the Exome Variant Server AADAT_000049 17/13006 16/8600 1/4406
1 c.803+46G>C r.(=) p.(=) g.170990253C>G Copied from the Exome Variant Server AADAT_000047 4/13006 0/8600 4/4406
1 c.803+47A>C r.(=) p.(=) g.170990252T>G Copied from the Exome Variant Server AADAT_000045 13/13006 0/8600 13/4406
1 c.804-24C>G r.(=) p.(=) g.170989862G>C Copied from the Exome Variant Server AADAT_000044 1/13006 1/8600 0/4406
1 c.804-23G>A r.(=) p.(=) g.170989861C>T Copied from the Exome Variant Server AADAT_000043 82/13006 1/8600 81/4406
1 c.804-5C>T r.spl? p.? g.170989843G>A Copied from the Exome Variant Server AADAT_000042 2/13006 1/8600 1/4406
1 c.804-4G>A r.spl? p.? g.170989842C>T Copied from the Exome Variant Server AADAT_000041 3/13006 3/8600 0/4406
1 c.850G>A r.(?) p.(Val284Ile) g.170989792C>T Copied from the Exome Variant Server AADAT_000040 1/13006 1/8600 0/4406
1 c.885C>A r.(=) p.(=) g.170989757G>T Copied from the Exome Variant Server AADAT_000039 1/13006 1/8600 0/4406
1 c.894T>C r.(=) p.(=) g.170989748A>G Copied from the Exome Variant Server AADAT_000038 1/13006 1/8600 0/4406
1 c.900+32del r.(=) p.(=) g.170989710del Copied from the Exome Variant Server AADAT_000037 27/12516 23/8252 4/4264
1 c.900+32dup r.(=) p.(=) g.170989710dup Copied from the Exome Variant Server AADAT_000036 5985/12516 3260/8252 2725/4264
1 c.900+32_900+33del r.(=) p.(=) g.170989709_170989710del Copied from the Exome Variant Server AADAT_000035 6/12516 4/8252 2/4264
1 c.900+32_900+33dup r.(=) p.(=) g.170989709_170989710dup Copied from the Exome Variant Server AADAT_000034 946/12516 815/8252 131/4264
1 c.901-59_901-58del r.(=) p.(=) g.170988597_170988598del Copied from the Exome Variant Server AADAT_000033 2/12518 0/8252 2/4266
1 c.901-47C>T r.(=) p.(=) g.170988586G>A Copied from the Exome Variant Server AADAT_000032 1/13004 0/8598 1/4406
1 c.907A>T r.(?) p.(Ile303Leu) g.170988533T>A Copied from the Exome Variant Server AADAT_000031 1/13006 1/8600 0/4406
1 c.911C>T r.(?) p.(Ser304Leu) g.170988529G>A Copied from the Exome Variant Server AADAT_000030 1/13006 0/8600 1/4406
1 c.925G>A r.(?) p.(Glu309Lys) g.170988515C>T Copied from the Exome Variant Server AADAT_000029 1/13006 0/8600 1/4406
1 c.962+9_962+10insA r.(=) p.(=) g.170988468_170988469insT Copied from the Exome Variant Server AADAT_000028 80/12520 1/8254 79/4266
1 c.962+44C>T r.(=) p.(=) g.170988434G>A Copied from the Exome Variant Server AADAT_000027 1/13004 0/8598 1/4406
1 c.963-46C>T r.(=) p.(=) g.170987675G>A Copied from the Exome Variant Server AADAT_000026 1/13006 0/8600 1/4406
1 c.963-7T>C r.(=) p.(=) g.170987636A>G Copied from the Exome Variant Server AADAT_000025 7851/13006 4158/8600 3693/4406
1 c.979A>G r.(?) p.(Ser327Gly) g.170987613T>C Copied from the Exome Variant Server AADAT_000024 1/13006 1/8600 0/4406
1 c.1025C>G r.(?) p.(Thr342Ser) g.170987567G>C Copied from the Exome Variant Server AADAT_000023 5/13006 0/8600 5/4406
1 c.1027+11C>T r.(=) p.(=) g.170987554G>A Copied from the Exome Variant Server AADAT_000022 2/13006 1/8600 1/4406
1 c.1027+41A>G r.(=) p.(=) g.170987524T>C Copied from the Exome Variant Server AADAT_000021 1/13006 1/8600 0/4406
1 c.1028-53del r.(=) p.(=) g.170986029del Copied from the Exome Variant Server AADAT_000020 1/12520 1/8254 0/4266
1 c.1028-23T>A r.(=) p.(=) g.170985999A>T Copied from the Exome Variant Server AADAT_000019 1/13006 1/8600 0/4406
1 c.1043A>G r.(?) p.(His348Arg) g.170985961T>C Copied from the Exome Variant Server AADAT_000018 1/13006 1/8600 0/4406
1 c.1096G>A r.(?) p.(Val366Ile) g.170985908C>T Copied from the Exome Variant Server AADAT_000017 1/13006 1/8600 0/4406
1 c.1134+14_1134+15insAGG r.(=) p.(=) g.170985855_170985856insCCT Copied from the Exome Variant Server AADAT_000016 878/12520 800/8254 78/4266
1 c.1134+21G>T r.(=) p.(=) g.170985849C>A Copied from the Exome Variant Server AADAT_000015 1/13006 1/8600 0/4406
1 c.1134+31C>T r.(=) p.(=) g.170985839G>A Copied from the Exome Variant Server AADAT_000014 28/13006 0/8600 28/4406
1 c.1134+46A>G r.(=) p.(=) g.170985824T>C Copied from the Exome Variant Server AADAT_000013 3/13006 3/8600 0/4406
1 c.1135-49T>C r.(=) p.(=) g.170983193A>G Copied from the Exome Variant Server AADAT_000012 1/13006 0/8600 1/4406
1 c.1135-21A>G r.(=) p.(=) g.170983165T>C Copied from the Exome Variant Server AADAT_000011 1/13006 0/8600 1/4406
1 c.1168G>A r.(?) p.(Asp390Asn) g.170983111C>T Copied from the Exome Variant Server AADAT_000010 1/13006 0/8600 1/4406
1 c.1171A>G r.(?) p.(Ser391Gly) g.170983108T>C Copied from the Exome Variant Server AADAT_000009 1/13006 0/8600 1/4406
1 c.1236+7G>A r.(=) p.(=) g.170983036C>T Copied from the Exome Variant Server AADAT_000008 1/13006 0/8600 1/4406
1 c.1236+10G>C r.(=) p.(=) g.170983033C>G Copied from the Exome Variant Server AADAT_000006 1/13006 1/8600 0/4406
1 c.1236+51T>G r.(=) p.(=) g.170982992A>C Copied from the Exome Variant Server AADAT_000005 1/13006 1/8600 0/4406
1 c.1237-27_1237-24del r.(=) p.(=) g.170982144_170982147del Copied from the Exome Variant Server AADAT_000004 1/7656 1/4896 0/2760
1 c.1237-20A>T r.(=) p.(=) g.170982140T>A Copied from the Exome Variant Server AADAT_000003 72/7260 0/4614 72/2646
1 c.1237-10del r.(=) p.(=) g.170982130del Copied from the Exome Variant Server AADAT_000002 52/7670 20/4896 32/2774
1 c.1245G>A r.(=) p.(=) g.170982112C>T Copied from the Exome Variant Server AADAT_000001 66/7272 61/4618 5/2654
1 c.*38A>G r.(=) p.(=) g.170982041T>C Copied from the Exome Variant Server AADAT_000007 2/7272 2/4618 0/2654
Legend