Full data view for gene AGGF1

Information The variants shown are described using the NM_018046.4 transcript reference sequence.

114 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.-48C>T r.(=) p.(=) g.76326544C>T Copied from the Exome Variant Server AGGF1_000001 68/10248 0/6976 68/3272 - - - - - - -
?/? c.35C>T r.(?) p.(Pro12Leu) g.76326626C>T Copied from the Exome Variant Server AGGF1_000002 1/12810 1/8488 0/4322 - - - - - - -
?/? c.50C>T r.(?) p.(Ser17Phe) g.76326641C>T Copied from the Exome Variant Server AGGF1_000003 1/12940 1/8570 0/4370 - - - - - - -
?/? c.52C>G r.(?) p.(Pro18Ala) g.76326643C>G Copied from the Exome Variant Server AGGF1_000004 1/12944 1/8570 0/4374 - - - - - - -
?/? c.55G>T r.(?) p.(Glu19*) g.76326646G>T Copied from the Exome Variant Server AGGF1_000005 1/12944 1/8570 0/4374 - - - - - - -
?/? c.59C>T r.(?) p.(Pro20Leu) g.76326650C>T Copied from the Exome Variant Server AGGF1_000006 1/12976 1/8584 0/4392 - - - - - - -
?/? c.84G>A r.(=) p.(=) g.76326675G>A Copied from the Exome Variant Server AGGF1_000007 67/13006 60/8600 7/4406 - - - - - - -
?/? c.140A>G r.(?) p.(Glu47Gly) g.76326731A>G Copied from the Exome Variant Server AGGF1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.157A>G r.(?) p.(Thr53Ala) g.76326748A>G Copied from the Exome Variant Server AGGF1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.163C>T r.(?) p.(Arg55Trp) g.76326754C>T Copied from the Exome Variant Server AGGF1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.207G>A r.(=) p.(=) g.76326798G>A Copied from the Exome Variant Server AGGF1_000011 3/13006 0/8600 3/4406 - - - - - - -
?/? c.210+26C>A r.(=) p.(=) g.76326827C>A Copied from the Exome Variant Server AGGF1_000012 3/12998 0/8594 3/4404 - - - - - - -
?/? c.211-45G>C r.(=) p.(=) g.76330198G>C Copied from the Exome Variant Server AGGF1_000013 1/12986 1/8590 0/4396 - - - - - - -
?/? c.266C>T r.(?) p.(Ser89Phe) g.76330298C>T Copied from the Exome Variant Server AGGF1_000014 1/13004 1/8598 0/4406 - - - - - - -
?/? c.307A>G r.(?) p.(Ile103Val) g.76330339A>G Copied from the Exome Variant Server AGGF1_000015 1/13004 0/8598 1/4406 - - - - - - -
?/? c.313+6T>C r.(=) p.(=) g.76330351T>C Copied from the Exome Variant Server AGGF1_000016 311/13004 6/8598 305/4406 - - - - - - -
?/? c.313+11T>C r.(=) p.(=) g.76330356T>C Copied from the Exome Variant Server AGGF1_000017 865/13004 783/8598 82/4406 - - - - - - -
?/? c.313+43A>G r.(=) p.(=) g.76330388A>G Copied from the Exome Variant Server AGGF1_000018 2/13006 0/8600 2/4406 - - - - - - -
?/? c.314-3C>T r.spl? p.? g.76331363C>T Copied from the Exome Variant Server AGGF1_000019 1/12990 0/8584 1/4406 - - - - - - -
?/? c.329C>T r.(?) p.(Thr110Met) g.76331381C>T Copied from the Exome Variant Server AGGF1_000020 1/12998 0/8592 1/4406 - - - - - - -
?/? c.335A>G r.(?) p.(Tyr112Cys) g.76331387A>G Copied from the Exome Variant Server AGGF1_000021 14/13002 1/8596 13/4406 - - - - - - -
?/? c.367G>A r.(?) p.(Glu123Lys) g.76331419G>A Copied from the Exome Variant Server AGGF1_000022 46/13004 0/8598 46/4406 - - - - - - -
?/? c.397G>A r.(?) p.(Glu133Lys) g.76331449G>A Copied from the Exome Variant Server AGGF1_000023 185/13004 168/8598 17/4406 - - - - - - -
?/? c.399A>G r.(=) p.(=) g.76331451A>G Copied from the Exome Variant Server AGGF1_000024 1/13004 1/8598 0/4406 - - - - - - -
?/? c.459C>T r.(=) p.(=) g.76331511C>T Copied from the Exome Variant Server AGGF1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.517-46_517-45insA r.(=) p.(=) g.76332335_76332336insA Copied from the Exome Variant Server AGGF1_000026 489/12448 10/8234 479/4214 - - - - - - -
?/? c.517-24T>C r.(=) p.(=) g.76332357T>C Copied from the Exome Variant Server AGGF1_000027 15/12998 0/8600 15/4398 - - - - - - -
?/? c.529G>A r.(?) p.(Ala177Thr) g.76332393G>A Copied from the Exome Variant Server AGGF1_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.612G>C r.(?) p.(Gln204His) g.76332476G>C Copied from the Exome Variant Server AGGF1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.629A>T r.(?) p.(Asp210Val) g.76332493A>T Copied from the Exome Variant Server AGGF1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.682-42A>G r.(=) p.(=) g.76335314A>G Copied from the Exome Variant Server AGGF1_000031 119/12972 0/8578 119/4394 - - - - - - -
?/? c.682-22A>G r.(=) p.(=) g.76335334A>G Copied from the Exome Variant Server AGGF1_000032 1/12992 0/8592 1/4400 - - - - - - -
?/? c.703C>A r.(?) p.(Pro235Thr) g.76335377C>A Copied from the Exome Variant Server AGGF1_000033 1/13000 0/8598 1/4402 - - - - - - -
?/? c.733G>A r.(?) p.(Val245Met) g.76335407G>A Copied from the Exome Variant Server AGGF1_000034 1/13002 1/8596 0/4406 - - - - - - -
?/? c.763C>T r.(?) p.(Arg255*) g.76335437C>T Copied from the Exome Variant Server AGGF1_000035 1/13002 1/8596 0/4406 - - - - - - -
?/? c.813T>A r.(?) p.(Asp271Glu) g.76335487T>A Copied from the Exome Variant Server AGGF1_000036 1/13000 1/8598 0/4402 - - - - - - -
?/? c.844G>T r.(?) p.(Asp282Tyr) g.76335518G>T Copied from the Exome Variant Server AGGF1_000037 1/12982 1/8586 0/4396 - - - - - - -
?/? c.870G>T r.(?) p.(Lys290Asn) g.76335544G>T Copied from the Exome Variant Server AGGF1_000038 1/12912 1/8564 0/4348 - - - - - - -
?/? c.870+26T>G r.(=) p.(=) g.76335570T>G Copied from the Exome Variant Server AGGF1_000039 1/12650 1/8462 0/4188 - - - - - - -
?/? c.870+48_870+51del r.(=) p.(=) g.76335592_76335595del Copied from the Exome Variant Server AGGF1_000041 11/11640 0/7872 11/3768 - - - - - - -
?/? c.871-42G>A r.(=) p.(=) g.76342130G>A Copied from the Exome Variant Server AGGF1_000043 3/12980 3/8584 0/4396 - - - - - - -
?/? c.871-31del r.(=) p.(=) g.76342141del Copied from the Exome Variant Server AGGF1_000045 2/12496 1/8240 1/4256 - - - - - - -
?/? c.871-30G>C r.(=) p.(=) g.76342142G>C Copied from the Exome Variant Server AGGF1_000047 1/12996 1/8594 0/4402 - - - - - - -
?/? c.871-19T>A r.(=) p.(=) g.76342153T>A Copied from the Exome Variant Server AGGF1_000049 7/13000 6/8596 1/4404 - - - - - - -
?/? c.871-10C>G r.(=) p.(=) g.76342162C>G Copied from the Exome Variant Server AGGF1_000051 1/13000 1/8596 0/4404 - - - - - - -
?/? c.878A>G r.(?) p.(Asn293Ser) g.76342179A>G Copied from the Exome Variant Server AGGF1_000040 1/13002 1/8600 0/4402 - - - - - - -
?/? c.939C>T r.(=) p.(=) g.76342240C>T Copied from the Exome Variant Server AGGF1_000042 7/13006 7/8600 0/4406 - - - - - - -
?/? c.940G>T r.(?) p.(Ala314Ser) g.76342241G>T Copied from the Exome Variant Server AGGF1_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.947T>A r.(?) p.(Met316Lys) g.76342248T>A Copied from the Exome Variant Server AGGF1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.978C>T r.(=) p.(=) g.76342279C>T Copied from the Exome Variant Server AGGF1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1024A>G r.(?) p.(Ile342Val) g.76342325A>G Copied from the Exome Variant Server AGGF1_000050 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1048A>T r.(?) p.(Ile350Phe) g.76342349A>T Copied from the Exome Variant Server AGGF1_000052 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1145A>G r.(?) p.(Tyr382Cys) g.76342446A>G Copied from the Exome Variant Server AGGF1_000053 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1146T>C r.(=) p.(=) g.76342447T>C Copied from the Exome Variant Server AGGF1_000054 55/13006 54/8600 1/4406 - - - - - - -
?/? c.1149C>T r.(=) p.(=) g.76342450C>T Copied from the Exome Variant Server AGGF1_000055 16/13006 1/8600 15/4406 - - - - - - -
?/? c.1178C>T r.(?) p.(Thr393Ile) g.76342479C>T Copied from the Exome Variant Server AGGF1_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1188T>C r.(=) p.(=) g.76342489T>C Copied from the Exome Variant Server AGGF1_000057 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1201+19T>C r.(=) p.(=) g.76342521T>C Copied from the Exome Variant Server AGGF1_000058 17/13006 2/8600 15/4406 - - - - - - -
?/? c.1202-32A>G r.(=) p.(=) g.76343954A>G Copied from the Exome Variant Server AGGF1_000059 1/12996 0/8592 1/4404 - - - - - - -
?/? c.1202-25A>G r.(=) p.(=) g.76343961A>G Copied from the Exome Variant Server AGGF1_000060 2/13002 0/8596 2/4406 - - - - - - -
?/? c.1211A>G r.(?) p.(Lys404Arg) g.76343995A>G Copied from the Exome Variant Server AGGF1_000061 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1215T>C r.(=) p.(=) g.76343999T>C Copied from the Exome Variant Server AGGF1_000062 3213/13004 2243/8598 970/4406 - - - - - - -
?/? c.1221C>T r.(=) p.(=) g.76344005C>T Copied from the Exome Variant Server AGGF1_000063 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1313+8G>A r.(=) p.(=) g.76344105G>A Copied from the Exome Variant Server AGGF1_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1313+25C>T r.(=) p.(=) g.76344122C>T Copied from the Exome Variant Server AGGF1_000065 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1313+45A>C r.(=) p.(=) g.76344142A>C Copied from the Exome Variant Server AGGF1_000066 62/12996 0/8590 62/4406 - - - - - - -
?/? c.1339C>T r.(?) p.(Arg447*) g.76344786C>T Copied from the Exome Variant Server AGGF1_000067 2/12996 2/8590 0/4406 - - - - - - -
?/? c.1365+31C>T r.(=) p.(=) g.76344843C>T Copied from the Exome Variant Server AGGF1_000068 2/12994 1/8588 1/4406 - - - - - - -
?/? c.1365+49_1365+51del r.(=) p.(=) g.76344861_76344863del Copied from the Exome Variant Server AGGF1_000069 5/12448 4/8222 1/4226 - - - - - - -
?/? c.1366-50T>C r.(=) p.(=) g.76348481T>C Copied from the Exome Variant Server AGGF1_000070 1/12916 1/8552 0/4364 - - - - - - -
?/? c.1366-8del r.(=) p.(=) g.76348523del Copied from the Exome Variant Server AGGF1_000071 18/12516 11/8252 7/4264 - - - - - - -
?/? c.1368T>G r.(?) p.(Phe456Leu) g.76348533T>G Copied from the Exome Variant Server AGGF1_000072 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1395C>T r.(=) p.(=) g.76348560C>T Copied from the Exome Variant Server AGGF1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1410C>T r.(=) p.(=) g.76348575C>T Copied from the Exome Variant Server AGGF1_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1467+38del r.(=) p.(=) g.76348670del Copied from the Exome Variant Server AGGF1_000075 2/12516 2/8252 0/4264 - - - - - - -
?/? c.1467+47T>C r.(=) p.(=) g.76348679T>C Copied from the Exome Variant Server AGGF1_000076 8/13000 7/8596 1/4404 - - - - - - -
?/? c.1467+49_1467+50insT r.(=) p.(=) g.76348681_76348682insT Copied from the Exome Variant Server AGGF1_000077 19/12506 16/8242 3/4264 - - - - - - -
?/? c.1468-47A>G r.(=) p.(=) g.76349743A>G Copied from the Exome Variant Server AGGF1_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1468-43G>A r.(=) p.(=) g.76349747G>A Copied from the Exome Variant Server AGGF1_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1468-6C>T r.(=) p.(=) g.76349784C>T Copied from the Exome Variant Server AGGF1_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1492G>A r.(?) p.(Val498Ile) g.76349814G>A Copied from the Exome Variant Server AGGF1_000081 6/13006 4/8600 2/4406 - - - - - - -
?/? c.1566C>T r.(=) p.(=) g.76349888C>T Copied from the Exome Variant Server AGGF1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1578T>C r.(=) p.(=) g.76349900T>C Copied from the Exome Variant Server AGGF1_000083 308/13006 98/8600 210/4406 - - - - - - -
?/? c.1622A>G r.(?) p.(Asp541Gly) g.76349944A>G Copied from the Exome Variant Server AGGF1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1629T>C r.(=) p.(=) g.76349951T>C Copied from the Exome Variant Server AGGF1_000085 10/13006 10/8600 0/4406 - - - - - - -
?/? c.1633+40_1633+43del r.(=) p.(=) g.76349995_76349998del Copied from the Exome Variant Server AGGF1_000086 1/12520 1/8254 0/4266 - - - - - - -
?/? c.1633+51C>G r.(=) p.(=) g.76350006C>G Copied from the Exome Variant Server AGGF1_000087 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1634-31C>A r.(=) p.(=) g.76351308C>A Copied from the Exome Variant Server AGGF1_000088 1476/12912 1325/8558 151/4354 - - - - - - -
?/? c.1716+34C>G r.(=) p.(=) g.76351455C>G Copied from the Exome Variant Server AGGF1_000089 5/12962 5/8564 0/4398 - - - - - - -
?/? c.1717-49_1717-46del r.(=) p.(=) g.76355392_76355395del Copied from the Exome Variant Server AGGF1_000091 3/12464 3/8232 0/4232 - - - - - - -
?/? c.1744T>G r.(?) p.(Leu582Val) g.76355468T>G Copied from the Exome Variant Server AGGF1_000093 10/13006 8/8600 2/4406 - - - - - - -
?/? c.1800T>A r.(?) p.(Ser600Arg) g.76355524T>A Copied from the Exome Variant Server AGGF1_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1820A>T r.(?) p.(Asp607Val) g.76355544A>T Copied from the Exome Variant Server AGGF1_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1844C>T r.(?) p.(Ser615Phe) g.76355568C>T Copied from the Exome Variant Server AGGF1_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1844+45T>C r.(=) p.(=) g.76355613T>C Copied from the Exome Variant Server AGGF1_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1845-38C>G r.(=) p.(=) g.76357490C>G Copied from the Exome Variant Server AGGF1_000090 15/13000 15/8600 0/4400 - - - - - - -
?/? c.1845-4A>G r.spl? p.? g.76357524A>G Copied from the Exome Variant Server AGGF1_000092 254/13006 5/8600 249/4406 - - - - - - -
?/? c.1862A>G r.(?) p.(Asn621Ser) g.76357545A>G Copied from the Exome Variant Server AGGF1_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1870C>T r.(?) p.(Arg624Trp) g.76357553C>T Copied from the Exome Variant Server AGGF1_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1890G>A r.(?) p.(Met630Ile) g.76357573G>A Copied from the Exome Variant Server AGGF1_000098 1/13006 1/8600 0/4406 - - - - - - -
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