Full data view for gene ATAD3A

Information The variants shown are described using the NM_018188.3 transcript reference sequence.

250 entries on 3 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.-20_-18del r.(=) p.(=) g.1447629_1447631del Copied from the Exome Variant Server ATAD3A_000001 28/8314 20/5864 8/2450 - - - - - - -
?/? c.44G>A r.(?) p.(Gly15Asp) g.1447692G>A Copied from the Exome Variant Server ATAD3A_000002 293/8890 18/6210 275/2680 - - - - - - -
?/? c.206-49C>T r.(=) p.(=) g.1451343C>T Copied from the Exome Variant Server ATAD3A_000003 1/12970 0/8586 1/4384 - - - - - - -
?/? c.206-41G>A r.(=) p.(=) g.1451351G>A Copied from the Exome Variant Server ATAD3A_000004 14/13002 0/8596 14/4406 - - - - - - -
?/? c.206-19C>T r.(=) p.(=) g.1451373C>T Copied from the Exome Variant Server ATAD3A_000005 21/13006 0/8600 21/4406 - - - - - - -
?/? c.206-18G>A r.(=) p.(=) g.1451374G>A Copied from the Exome Variant Server ATAD3A_000006 2/13006 1/8600 1/4406 - - - - - - -
?/? c.206-12T>C r.(=) p.(=) g.1451380T>C Copied from the Exome Variant Server ATAD3A_000007 4403/13006 1177/8600 3226/4406 - - - - - - -
?/? c.206-6C>T r.(=) p.(=) g.1451386C>T Copied from the Exome Variant Server ATAD3A_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.220G>T r.(?) p.(Ala74Ser) g.1451406G>T Copied from the Exome Variant Server ATAD3A_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.229C>G r.(?) p.(Leu77Val) g.1451415C>G Copied from the Exome Variant Server ATAD3A_000010 7/13006 7/8600 0/4406 - - - - - - -
?/? c.234A>G r.(=) p.(=) g.1451420A>G Copied from the Exome Variant Server ATAD3A_000011 2/13006 2/8600 0/4406 - - - - - - -
?/? c.246G>T r.(?) p.(Glu82Asp) g.1451432G>T Copied from the Exome Variant Server ATAD3A_000012 1/13004 0/8598 1/4406 - - - - - - -
?/? c.269A>G r.(?) p.(Gln90Arg) g.1451455A>G Copied from the Exome Variant Server ATAD3A_000013 1/12998 1/8592 0/4406 - - - - - - -
?/? c.281_282+1del r.spl? p.? g.1451467_1451469del Copied from the Exome Variant Server ATAD3A_000014 1/12516 1/8250 0/4266 - - - - - - -
?/? c.282+5G>A r.spl? p.? g.1451473G>A Copied from the Exome Variant Server ATAD3A_000015 1/12998 0/8592 1/4406 - - - - - - -
?/? c.282+12C>T r.(=) p.(=) g.1451480C>T Copied from the Exome Variant Server ATAD3A_000016 3/12988 3/8584 0/4404 - - - - - - -
?/? c.282+13G>A r.(=) p.(=) g.1451481G>A Copied from the Exome Variant Server ATAD3A_000017 1/12974 0/8570 1/4404 - - - - - - -
?/? c.282+21T>C r.(=) p.(=) g.1451489T>C Copied from the Exome Variant Server ATAD3A_000018 1787/12976 137/8574 1650/4402 - - - - - - -
?/? c.282+22G>A r.(=) p.(=) g.1451490G>A Copied from the Exome Variant Server ATAD3A_000019 1658/12962 127/8564 1531/4398 - - - - - - -
?/? c.282+30C>T r.(=) p.(=) g.1451498C>T Copied from the Exome Variant Server ATAD3A_000020 1/12954 0/8558 1/4396 - - - - - - -
?/? c.282+35C>T r.(=) p.(=) g.1451503C>T Copied from the Exome Variant Server ATAD3A_000021 3/12952 3/8554 0/4398 - - - - - - -
?/? c.282+36G>A r.(=) p.(=) g.1451504G>A Copied from the Exome Variant Server ATAD3A_000022 1/12936 1/8540 0/4396 - - - - - - -
?/? c.282+55del r.(=) p.(=) g.1451523del Copied from the Exome Variant Server ATAD3A_000023 16/12388 13/8148 3/4240 - - - - - - -
?/? c.340C>T r.(?) p.(Arg114Cys) g.1452604C>T Copied from the Exome Variant Server ATAD3A_000024 5/12090 5/8144 0/3946 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.1452615C>T Copied from the Exome Variant Server ATAD3A_000025 62/12314 0/8290 62/4024 - - - - - - -
?/? c.377G>A r.(?) p.(Gly126Asp) g.1452641G>A Copied from the Exome Variant Server ATAD3A_000026 96/11738 1/7932 95/3806 - - - - - - -
?/? c.439G>A r.(?) p.(Ala147Thr) g.1452703G>A Copied from the Exome Variant Server ATAD3A_000027 8/10666 8/7142 0/3524 - - - - - - -
?/? c.459C>T r.(=) p.(=) g.1452723C>T Copied from the Exome Variant Server ATAD3A_000028 266/10726 6/7192 260/3534 - - - - - - -
?/? c.474G>A r.(=) p.(=) g.1452738G>A Copied from the Exome Variant Server ATAD3A_000029 12/10610 11/7126 1/3484 - - - - - - -
?/? c.553G>T r.(?) p.(Ala185Ser) g.1453120G>T Copied from the Exome Variant Server ATAD3A_000030 4/12734 1/8412 3/4322 - - - - - - -
?/? c.556C>T r.(?) p.(Arg186Trp) g.1453123C>T Copied from the Exome Variant Server ATAD3A_000031 1/12746 1/8418 0/4328 - - - - - - -
?/? c.588+21G>A r.(=) p.(=) g.1453176G>A Copied from the Exome Variant Server ATAD3A_000032 204/12654 1/8352 203/4302 - - - - - - -
?/? c.588+26G>A r.(=) p.(=) g.1453181G>A Copied from the Exome Variant Server ATAD3A_000033 1/12818 1/8458 0/4360 - - - - - - -
?/? c.588+43C>T r.(=) p.(=) g.1453198C>T Copied from the Exome Variant Server ATAD3A_000034 1/12932 1/8556 0/4376 - - - - - - -
?/? c.588+44G>A r.(=) p.(=) g.1453199G>A Copied from the Exome Variant Server ATAD3A_000035 251/12936 2/8556 249/4380 - - - - - - -
?/? c.589-63C>A r.(=) p.(=) g.1454238C>A Copied from the Exome Variant Server ATAD3A_000036 1/4566 1/3182 0/1384 - - - - - - -
?/? c.589-51C>T r.(=) p.(=) g.1454250C>T Copied from the Exome Variant Server ATAD3A_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.589-29T>A r.(=) p.(=) g.1454272T>A Copied from the Exome Variant Server ATAD3A_000038 1142/13006 30/8600 1112/4406 - - - - - - -
?/? c.589-14C>T r.(=) p.(=) g.1454287C>T Copied from the Exome Variant Server ATAD3A_000039 12/13006 10/8600 2/4406 - - - - - - -
?/? c.589-11_589-9del r.(=) p.(=) g.1454290_1454292del Copied from the Exome Variant Server ATAD3A_000040 88/12520 77/8254 11/4266 - - - - - - -
?/? c.606G>T r.(?) p.(Glu202Asp) g.1454318G>T Copied from the Exome Variant Server ATAD3A_000041 1/13000 1/8594 0/4406 - - - - - - -
?/? c.613C>T r.(?) p.(Arg205Trp) g.1454325C>T Copied from the Exome Variant Server ATAD3A_000042 1/13000 1/8594 0/4406 - - - - - - -
?/? c.630C>T r.(=) p.(=) g.1454342C>T Copied from the Exome Variant Server ATAD3A_000043 6/12964 0/8560 6/4404 - - - - - - -
?/? c.658+28C>T r.(=) p.(=) g.1454398C>T Copied from the Exome Variant Server ATAD3A_000044 1/13004 0/8598 1/4406 - - - - - - -
?/? c.658+37C>T r.(=) p.(=) g.1454407C>T Copied from the Exome Variant Server ATAD3A_000045 3/13002 0/8596 3/4406 - - - - - - -
?/? c.658+38G>A r.(=) p.(=) g.1454408G>A Copied from the Exome Variant Server ATAD3A_000046 1/13002 1/8596 0/4406 - - - - - - -
?/? c.658+42G>A r.(=) p.(=) g.1454412G>A Copied from the Exome Variant Server ATAD3A_000047 132/13002 93/8596 39/4406 - - - - - - -
?/? c.659-38A>T r.(=) p.(=) g.1455483A>T Copied from the Exome Variant Server ATAD3A_000048 1/12934 1/8578 0/4356 - - - - - - -
?/? c.659-33A>G r.(=) p.(=) g.1455488A>G Copied from the Exome Variant Server ATAD3A_000049 4/12944 0/8582 4/4362 - - - - - - -
?/? c.664G>A r.(?) p.(Val222Met) g.1455526G>A Copied from the Exome Variant Server ATAD3A_000050 2/12924 0/8552 2/4372 - - - - - - -
?/? c.671G>A r.(?) p.(Arg224Gln) g.1455533G>A Copied from the Exome Variant Server ATAD3A_000051 216/12976 203/8586 13/4390 - - - - - - -
?/? c.686G>A r.(?) p.(Arg229Gln) g.1455548G>A Copied from the Exome Variant Server ATAD3A_000052 1/12994 1/8594 0/4400 - - - - - - -
?/? c.692A>G r.(?) p.(Lys231Arg) g.1455554A>G Copied from the Exome Variant Server ATAD3A_000053 1/12998 0/8594 1/4404 - - - - - - -
?/? c.702G>A r.(?) p.(Met234Ile) g.1455564G>A Copied from the Exome Variant Server ATAD3A_000054 6/13000 0/8596 6/4404 - - - - - - -
?/? c.706C>G r.(?) p.(Arg236Gly) g.1455568C>G Copied from the Exome Variant Server ATAD3A_000055 1/13002 1/8598 0/4404 - - - - - - -
?/? c.707G>A r.(?) p.(Arg236Gln) g.1455569G>A Copied from the Exome Variant Server ATAD3A_000056 4/13002 4/8598 0/4404 - - - - - - -
?/? c.724C>T r.(?) p.(Arg242Trp) g.1455586C>T Copied from the Exome Variant Server ATAD3A_000057 2/12998 2/8596 0/4402 - - - - - - -
?/? c.725G>A r.(?) p.(Arg242Gln) g.1455587G>A Copied from the Exome Variant Server ATAD3A_000058 2/13000 0/8598 2/4402 - - - - - - -
?/? c.748G>A r.(?) p.(Glu250Lys) g.1455610G>A Copied from the Exome Variant Server ATAD3A_000059 16/13000 13/8594 3/4406 - - - - - - -
?/? c.766C>T r.(?) p.(Arg256Cys) g.1455628C>T Copied from the Exome Variant Server ATAD3A_000060 3/13006 3/8600 0/4406 - - - - - - -
?/? c.789G>A r.(=) p.(=) g.1455651G>A Copied from the Exome Variant Server ATAD3A_000061 4/13006 0/8600 4/4406 - - - - - - -
?/? c.824G>C r.(?) p.(Arg275Thr) g.1455686G>C Copied from the Exome Variant Server ATAD3A_000062 1/13004 1/8600 0/4404 - - - - - - -
?/? c.824+1G>A r.spl? p.? g.1455687G>A Copied from the Exome Variant Server ATAD3A_000063 1/13004 1/8600 0/4404 - - - - - - -
?/? c.824+12C>T r.(=) p.(=) g.1455698C>T Copied from the Exome Variant Server ATAD3A_000064 155/13006 1/8600 154/4406 - - - - - - -
?/? c.824+19C>T r.(=) p.(=) g.1455705C>T Copied from the Exome Variant Server ATAD3A_000065 17/13004 1/8598 16/4406 - - - - - - -
?/? c.824+23C>A r.(=) p.(=) g.1455709C>A Copied from the Exome Variant Server ATAD3A_000066 1/13000 1/8598 0/4402 - - - - - - -
?/? c.824+24C>T r.(=) p.(=) g.1455710C>T Copied from the Exome Variant Server ATAD3A_000067 143/13000 106/8598 37/4402 - - - - - - -
?/? c.825-56G>T r.(=) p.(=) g.1455872G>T Copied from the Exome Variant Server ATAD3A_000068 125/4566 35/3182 90/1384 - - - - - - -
?/? c.825-52C>T r.(=) p.(=) g.1455876C>T Copied from the Exome Variant Server ATAD3A_000069 2/10300 1/7164 1/3136 - - - - - - -
?/? c.825-51G>A r.(=) p.(=) g.1455877G>A Copied from the Exome Variant Server ATAD3A_000070 2/13006 0/8600 2/4406 - - - - - - -
?/? c.825-44G>A r.(=) p.(=) g.1455884G>A Copied from the Exome Variant Server ATAD3A_000071 3/13006 3/8600 0/4406 - - - - - - -
?/? c.825-40C>A r.(=) p.(=) g.1455888C>A Copied from the Exome Variant Server ATAD3A_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.825-28C>T r.(=) p.(=) g.1455900C>T Copied from the Exome Variant Server ATAD3A_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.827C>T r.(?) p.(Thr276Met) g.1455930C>T Copied from the Exome Variant Server ATAD3A_000074 1/13002 1/8596 0/4406 - - - - - - -
?/? c.836C>T r.(?) p.(Thr279Ile) g.1455939C>T Copied from the Exome Variant Server ATAD3A_000075 3/13006 0/8600 3/4406 - - - - - - -
?/? c.849A>G r.(=) p.(=) g.1455952A>G Copied from the Exome Variant Server ATAD3A_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.856C>T r.(?) p.(Arg286Cys) g.1455959C>T Copied from the Exome Variant Server ATAD3A_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.894G>A r.(=) p.(=) g.1455997G>A Copied from the Exome Variant Server ATAD3A_000078 1/13004 1/8600 0/4404 - - - - - - -
?/? c.894+12C>T r.(=) p.(=) g.1456009C>T Copied from the Exome Variant Server ATAD3A_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.894+42G>A r.(=) p.(=) g.1456039G>A Copied from the Exome Variant Server ATAD3A_000080 247/13006 1/8600 246/4406 - - - - - - -
?/? c.895-51A>G r.(=) p.(=) g.1458073A>G Copied from the Exome Variant Server ATAD3A_000081 2049/12992 1841/8588 208/4404 - - - - - - -
?/? c.895-40C>T r.(=) p.(=) g.1458084C>T Copied from the Exome Variant Server ATAD3A_000082 2/12994 0/8590 2/4404 - - - - - - -
?/? c.895-30C>T r.(=) p.(=) g.1458094C>T Copied from the Exome Variant Server ATAD3A_000083 17/12994 1/8588 16/4406 - - - - - - -
?/? c.895-25C>T r.(=) p.(=) g.1458099C>T Copied from the Exome Variant Server ATAD3A_000084 1/12994 1/8588 0/4406 - - - - - - -
?/? c.895-24G>A r.(=) p.(=) g.1458100G>A Copied from the Exome Variant Server ATAD3A_000085 5/12994 0/8588 5/4406 - - - - - - -
?/? c.895-17C>T r.(=) p.(=) g.1458107C>T Copied from the Exome Variant Server ATAD3A_000086 1/12998 1/8592 0/4406 - - - - - - -
?/? c.895-16G>A r.(=) p.(=) g.1458108G>A Copied from the Exome Variant Server ATAD3A_000087 1/12996 0/8590 1/4406 - - - - - - -
?/? c.895-15G>A r.(=) p.(=) g.1458109G>A Copied from the Exome Variant Server ATAD3A_000088 115/12996 102/8590 13/4406 - - - - - - -
?/? c.895-6C>T r.(=) p.(=) g.1458118C>T Copied from the Exome Variant Server ATAD3A_000089 35/12992 1/8590 34/4402 - - - - - - -
?/? c.895-4G>A r.spl? p.? g.1458120G>A Copied from the Exome Variant Server ATAD3A_000090 2/12992 0/8590 2/4402 - - - - - - -
?/? c.921T>C r.(=) p.(=) g.1458150T>C Copied from the Exome Variant Server ATAD3A_000091 106/12996 67/8600 39/4396 - - - - - - -
?/? c.936C>T r.(=) p.(=) g.1458165C>T Copied from the Exome Variant Server ATAD3A_000092 9/12994 9/8600 0/4394 - - - - - - -
?/? c.941A>G r.(?) p.(Asn314Ser) g.1458170A>G Copied from the Exome Variant Server ATAD3A_000093 2/12992 2/8600 0/4392 - - - - - - -
?/? c.948G>A r.(=) p.(=) g.1458177G>A Copied from the Exome Variant Server ATAD3A_000094 2/12984 0/8600 2/4384 - - - - - - -
?/? c.954C>T r.(=) p.(=) g.1458183C>T Copied from the Exome Variant Server ATAD3A_000095 1/12984 0/8600 1/4384 - - - - - - -
?/? c.955G>A r.(?) p.(Ala319Thr) g.1458184G>A Copied from the Exome Variant Server ATAD3A_000096 1/12984 0/8600 1/4384 - - - - - - -
?/? c.970G>A r.(?) p.(Glu324Lys) g.1458199G>A Copied from the Exome Variant Server ATAD3A_000097 1/12992 1/8598 0/4394 - - - - - - -
?/? c.1007C>T r.(?) p.(Thr336Met) g.1458236C>T Copied from the Exome Variant Server ATAD3A_000098 1/12968 0/8588 1/4380 - - - - - - -
?/? c.1020G>A r.(=) p.(=) g.1458249G>A Copied from the Exome Variant Server ATAD3A_000099 12/12962 0/8596 12/4366 - - - - - - -
?/? c.1032G>A r.(=) p.(=) g.1458261G>A Copied from the Exome Variant Server ATAD3A_000100 2/12948 0/8598 2/4350 - - - - - - -
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