Full data view for gene AADAC

Information The variants shown are described using the NM_001086.2 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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.-50T>C r.(=) p.(=) g.151531901T>C Copied from the Exome Variant Server AADAC_000001 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-44T>G r.(=) p.(=) g.151531907T>G Copied from the Exome Variant Server AADAC_000002 67/13006 60/8600 7/4406 - - - - - - -
?/? c.-33T>C r.(=) p.(=) g.151531918T>C Copied from the Exome Variant Server AADAC_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-13C>T r.(=) p.(=) g.151531938C>T Copied from the Exome Variant Server AADAC_000004 5/13006 5/8600 0/4406 - - - - - - -
?/? c.2T>C r.? p.? g.151531952T>C Copied from the Exome Variant Server AADAC_000005 3/13006 2/8600 1/4406 - - - - - - -
?/? c.39C>A r.(=) p.(=) g.151531989C>A Copied from the Exome Variant Server AADAC_000006 145/13006 128/8600 17/4406 - - - - - - -
?/? c.78C>T r.(=) p.(=) g.151532028C>T Copied from the Exome Variant Server AADAC_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.88C>A r.(?) p.(Pro30Thr) g.151532038C>A Copied from the Exome Variant Server AADAC_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.89C>T r.(?) p.(Pro30Leu) g.151532039C>T Copied from the Exome Variant Server AADAC_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.125C>G r.(?) p.(Thr42Ser) g.151532075C>G Copied from the Exome Variant Server AADAC_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.138+41C>T r.(=) p.(=) g.151532129C>T Copied from the Exome Variant Server AADAC_000011 1/12996 1/8590 0/4406 - - - - - - -
?/? c.139-40G>C r.(=) p.(=) g.151535114G>C Copied from the Exome Variant Server AADAC_000012 46/13006 42/8600 4/4406 - - - - - - -
?/? c.139-8A>T r.(=) p.(=) g.151535146A>T Copied from the Exome Variant Server AADAC_000013 247/13006 2/8600 245/4406 - - - - - - -
?/? c.145T>G r.(?) p.(Phe49Val) g.151535160T>G Copied from the Exome Variant Server AADAC_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.153G>A r.(=) p.(=) g.151535168G>A Copied from the Exome Variant Server AADAC_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.200G>A r.(?) p.(Ser67Asn) g.151535215G>A Copied from the Exome Variant Server AADAC_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.220A>G r.(?) p.(Thr74Ala) g.151535235A>G Copied from the Exome Variant Server AADAC_000017 2/13006 1/8600 1/4406 - - - - - - -
?/? c.224C>T r.(?) p.(Ser75Leu) g.151535239C>T Copied from the Exome Variant Server AADAC_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.258C>T r.(=) p.(=) g.151535273C>T Copied from the Exome Variant Server AADAC_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.259A>G r.(?) p.(Asn87Asp) g.151535274A>G Copied from the Exome Variant Server AADAC_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.270T>G r.(=) p.(=) g.151535285T>G Copied from the Exome Variant Server AADAC_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.333T>C r.(=) p.(=) g.151535348T>C Copied from the Exome Variant Server AADAC_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.341G>A r.(?) p.(Gly114Asp) g.151535356G>A Copied from the Exome Variant Server AADAC_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.349G>A r.(?) p.(Val117Met) g.151535364G>A Copied from the Exome Variant Server AADAC_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.358G>T r.(?) p.(Ala120Ser) g.151535373G>T Copied from the Exome Variant Server AADAC_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.361+35G>C r.(=) p.(=) g.151535411G>C Copied from the Exome Variant Server AADAC_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.361+42C>T r.(=) p.(=) g.151535418C>T Copied from the Exome Variant Server AADAC_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.361+43G>A r.(=) p.(=) g.151535419G>A Copied from the Exome Variant Server AADAC_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.361+46G>A r.(=) p.(=) g.151535422G>A Copied from the Exome Variant Server AADAC_000029 10218/13006 6751/8600 3467/4406 - - - - - - -
?/? c.362-1G>A r.spl? p.? g.151538170G>A Copied from the Exome Variant Server AADAC_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.369T>C r.(=) p.(=) g.151538178T>C Copied from the Exome Variant Server AADAC_000032 2/13006 0/8600 2/4406 - - - - - - -
?/? c.411T>C r.(=) p.(=) g.151538220T>C Copied from the Exome Variant Server AADAC_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.417C>T r.(=) p.(=) g.151538226C>T Copied from the Exome Variant Server AADAC_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.418G>A r.(?) p.(Val140Ile) g.151538227G>A Copied from the Exome Variant Server AADAC_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.431A>G r.(?) p.(Asn144Ser) g.151538240A>G Copied from the Exome Variant Server AADAC_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.431+13C>T r.(=) p.(=) g.151538253C>T Copied from the Exome Variant Server AADAC_000042 2/13006 2/8600 0/4406 - - - - - - -
?/? c.431+19G>A r.(=) p.(=) g.151538259G>A Copied from the Exome Variant Server AADAC_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.431+44G>A r.(=) p.(=) g.151538284G>A Copied from the Exome Variant Server AADAC_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.431+61_431+70del r.(=) p.(=) g.151538301_151538310del Copied from the Exome Variant Server AADAC_000031 103/12506 7/8246 96/4260 - - - - - - -
?/? c.432-42_432-39del r.(=) p.(=) g.151542409_151542412del Copied from the Exome Variant Server AADAC_000033 9649/12462 6420/8224 3229/4238 - - - - - - -
?/? c.432-18T>C r.(=) p.(=) g.151542433T>C Copied from the Exome Variant Server AADAC_000035 1/13004 1/8600 0/4404 - - - - - - -
?/? c.447T>A r.(=) p.(=) g.151542466T>A Copied from the Exome Variant Server AADAC_000037 3/13006 0/8600 3/4406 - - - - - - -
?/? c.505C>T r.(?) p.(Arg169Cys) g.151542524C>T Copied from the Exome Variant Server AADAC_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.514G>A r.(?) p.(Val172Ile) g.151542533G>A Copied from the Exome Variant Server AADAC_000041 114/13006 0/8600 114/4406 - - - - - - -
?/? c.556T>G r.(?) p.(Ser186Ala) g.151542575T>G Copied from the Exome Variant Server AADAC_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.596C>T r.(?) p.(Thr199Ile) g.151542615C>T Copied from the Exome Variant Server AADAC_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.603+42A>G r.(=) p.(=) g.151542664A>G Copied from the Exome Variant Server AADAC_000047 1/12990 1/8586 0/4404 - - - - - - -
?/? c.603+43C>T r.(=) p.(=) g.151542665C>T Copied from the Exome Variant Server AADAC_000048 1/12990 0/8586 1/4404 - - - - - - -
?/? c.603+47G>A r.(=) p.(=) g.151542669G>A Copied from the Exome Variant Server AADAC_000049 15/12982 0/8578 15/4404 - - - - - - -
?/? c.604-16T>G r.(=) p.(=) g.151545348T>G Copied from the Exome Variant Server AADAC_000050 2/13006 2/8600 0/4406 - - - - - - -
?/? c.606C>T r.(=) p.(=) g.151545366C>T Copied from the Exome Variant Server AADAC_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.619G>A r.(?) p.(Asp207Asn) g.151545379G>A Copied from the Exome Variant Server AADAC_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.687A>C r.(?) p.(Leu229Phe) g.151545447A>C Copied from the Exome Variant Server AADAC_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.689C>T r.(?) p.(Pro230Leu) g.151545449C>T Copied from the Exome Variant Server AADAC_000054 2/13006 0/8600 2/4406 - - - - - - -
?/? c.690G>A r.(=) p.(=) g.151545450G>A Copied from the Exome Variant Server AADAC_000055 3/13006 2/8600 1/4406 - - - - - - -
?/? c.795T>C r.(=) p.(=) g.151545555T>C Copied from the Exome Variant Server AADAC_000056 1/13004 1/8598 0/4406 - - - - - - -
?/? c.841G>A r.(?) p.(Val281Ile) g.151545601G>A Copied from the Exome Variant Server AADAC_000057 10117/13002 6750/8596 3367/4406 - - - - - - -
?/? c.846T>C r.(=) p.(=) g.151545606T>C Copied from the Exome Variant Server AADAC_000058 1/13004 1/8598 0/4406 - - - - - - -
?/? c.851G>T r.(?) p.(Ser284Ile) g.151545611G>T Copied from the Exome Variant Server AADAC_000059 6/13004 0/8598 6/4406 - - - - - - -
?/? c.870G>A r.(=) p.(=) g.151545630G>A Copied from the Exome Variant Server AADAC_000060 1/13000 1/8594 0/4406 - - - - - - -
?/? c.973G>A r.(?) p.(Asp325Asn) g.151545733G>A Copied from the Exome Variant Server AADAC_000061 12/13006 0/8600 12/4406 - - - - - - -
?/? c.1035A>G r.(=) p.(=) g.151545795A>G Copied from the Exome Variant Server AADAC_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1070G>A r.(?) p.(Arg357His) g.151545830G>A Copied from the Exome Variant Server AADAC_000063 3/13004 3/8598 0/4406 - - - - - - -
?/? c.1087G>A r.(?) p.(Val363Met) g.151545847G>A Copied from the Exome Variant Server AADAC_000064 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1098C>G r.(?) p.(Asn366Lys) g.151545858C>G Copied from the Exome Variant Server AADAC_000065 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1119T>C r.(=) p.(=) g.151545879T>C Copied from the Exome Variant Server AADAC_000066 77/13004 1/8598 76/4406 - - - - - - -
?/? c.1198T>C r.(?) p.(*400Glnext*1) g.151545958T>C Copied from the Exome Variant Server AADAC_000067 54/12742 52/8504 2/4238 - - - - - - -
?/? c.*6C>G r.(=) p.(=) g.151545966C>G Copied from the Exome Variant Server AADAC_000068 1/12626 1/8466 0/4160 - - - - - - -
?/? c.*7A>G r.(=) p.(=) g.151545967A>G Copied from the Exome Variant Server AADAC_000069 1/12598 0/8450 1/4148 - - - - - - -
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