Full data view for gene TFAP2A

Information The variants shown are described using the NM_003220.2 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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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.-4514C>T r.(=) p.(=) g.10419732G>A Copied from the Exome Variant Server TFAP2A_000074 1/12188 0/8266 1/3922 - - - - - - -
?/? c.-4508C>T r.(=) p.(=) g.10419726G>A Copied from the Exome Variant Server TFAP2A_000073 1/12168 1/8256 0/3912 - - - - - - -
?/? c.-4504T>C r.(=) p.(=) g.10419722A>G Copied from the Exome Variant Server TFAP2A_000072 1/12164 1/8250 0/3914 - - - - - - -
?/? c.-4496G>A r.(=) p.(=) g.10419714C>T Copied from the Exome Variant Server TFAP2A_000071 18/12164 1/8246 17/3918 - - - - - - -
?/? c.-4495G>A r.(=) p.(=) g.10419713C>T Copied from the Exome Variant Server TFAP2A_000070 4/12164 4/8246 0/3918 - - - - - - -
?/? c.-4469C>T r.(=) p.(=) g.10419687G>A Copied from the Exome Variant Server TFAP2A_000069 30/12160 28/8246 2/3914 - - - - - - -
?/? c.-4428G>T r.(=) p.(=) g.10419646C>A Copied from the Exome Variant Server TFAP2A_000068 1/12004 0/8202 1/3802 - - - - - - -
?/? c.-4424G>C r.(=) p.(=) g.10419642C>G Copied from the Exome Variant Server TFAP2A_000067 1/12012 1/8202 0/3810 - - - - - - -
?/? c.-4418C>T r.(=) p.(=) g.10419636G>A Copied from the Exome Variant Server TFAP2A_000066 2/11970 0/8178 2/3792 - - - - - - -
?/? c.-4379A>T r.(=) p.(=) g.10419597T>A Copied from the Exome Variant Server TFAP2A_000065 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-77T>G r.(=) p.(=) g.10415295A>C Copied from the Exome Variant Server TFAP2A_000064 2/4566 2/3182 0/1384 - - - - - - -
?/? c.-28G>A r.(=) p.(=) g.10415246C>T Copied from the Exome Variant Server TFAP2A_000063 3/13006 0/8600 3/4406 - - - - - - -
?/? c.-20G>C r.(=) p.(=) g.10415238C>G Copied from the Exome Variant Server TFAP2A_000062 198/13006 4/8600 194/4406 - - - - - - -
?/? c.24T>C r.(=) p.(=) g.10415195A>G Copied from the Exome Variant Server TFAP2A_000061 2/13006 2/8600 0/4406 - - - - - - -
?/? c.45+8C>T r.(=) p.(=) g.10415166G>A Copied from the Exome Variant Server TFAP2A_000060 12/13006 0/8600 12/4406 - - - - - - -
?/? c.45+20G>T r.(=) p.(=) g.10415154C>A Copied from the Exome Variant Server TFAP2A_000059 3/13006 3/8600 0/4406 - - - - - - -
?/? c.45+32G>T r.(=) p.(=) g.10415142C>A Copied from the Exome Variant Server TFAP2A_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.45+57_45+60del r.(=) p.(=) g.10415114_10415117del Copied from the Exome Variant Server TFAP2A_000057 30/12518 24/8254 6/4264 - - - - - - -
?/? c.46-1341G>A r.(=) p.(=) g.10411909C>T Copied from the Exome Variant Server TFAP2A_000056 2/4566 0/3182 2/1384 - - - - - - -
?/? c.46-1295_46-1294insT r.(=) p.(=) g.10411862_10411863insA Copied from the Exome Variant Server TFAP2A_000055 1/12518 1/8254 0/4264 - - - - - - -
?/? c.46-1283C>T r.(=) p.(=) g.10411851G>A Copied from the Exome Variant Server TFAP2A_000054 2/13006 0/8600 2/4406 - - - - - - -
?/? c.46-1266C>T r.(=) p.(=) g.10411834G>A Copied from the Exome Variant Server TFAP2A_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.46-1226C>G r.(=) p.(=) g.10411794G>C Copied from the Exome Variant Server TFAP2A_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.46-1222C>T r.(=) p.(=) g.10411790G>A Copied from the Exome Variant Server TFAP2A_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.46-1210G>A r.(=) p.(=) g.10411778C>T Copied from the Exome Variant Server TFAP2A_000050 5/13006 0/8600 5/4406 - - - - - - -
?/? c.46-1193T>G r.(=) p.(=) g.10411761A>C Copied from the Exome Variant Server TFAP2A_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.46-1184G>A r.(=) p.(=) g.10411752C>T Copied from the Exome Variant Server TFAP2A_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.59G>T r.(?) p.(Gly20Val) g.10410555C>A Copied from the Exome Variant Server TFAP2A_000047 1/12998 0/8594 1/4404 - - - - - - -
?/? c.124G>T r.(?) p.(Ala42Ser) g.10410490C>A Copied from the Exome Variant Server TFAP2A_000046 1/12994 1/8594 0/4400 - - - - - - -
?/? c.135G>A r.(=) p.(=) g.10410479C>T Copied from the Exome Variant Server TFAP2A_000045 3/12912 0/8550 3/4362 - - - - - - -
?/? c.251C>T r.(?) p.(Pro84Leu) g.10410363G>A Copied from the Exome Variant Server TFAP2A_000044 4/13000 0/8594 4/4406 - - - - - - -
?/? c.253C>G r.(?) p.(Leu85Val) g.10410361G>C Copied from the Exome Variant Server TFAP2A_000043 1/13000 1/8594 0/4406 - - - - - - -
?/? c.297G>C r.(?) p.(Gln99His) g.10410317C>G Copied from the Exome Variant Server TFAP2A_000042 1/12988 0/8592 1/4396 - - - - - - -
?/? c.336G>A r.(=) p.(=) g.10410278C>T Copied from the Exome Variant Server TFAP2A_000041 3/12994 0/8594 3/4400 - - - - - - -
?/? c.372C>A r.(=) p.(=) g.10410242G>T Copied from the Exome Variant Server TFAP2A_000040 1/12994 0/8596 1/4398 - - - - - - -
?/? c.420C>T r.(=) p.(=) g.10410194G>A Copied from the Exome Variant Server TFAP2A_000039 10/12902 9/8542 1/4360 - - - - - - -
?/? c.457_458insT r.(?) p.(Pro153Leufs*16) g.10410156_10410157insA Copied from the Exome Variant Server TFAP2A_000038 26/12164 22/8048 4/4116 - - - - - - -
?/? c.462C>T r.(=) p.(=) g.10410152G>A Copied from the Exome Variant Server TFAP2A_000036 1/12638 0/8376 1/4262 - - - - - - -
?/? c.481-35A>G r.(=) p.(=) g.10407112T>C Copied from the Exome Variant Server TFAP2A_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.481-20T>C r.(=) p.(=) g.10407097A>G Copied from the Exome Variant Server TFAP2A_000032 5/13006 4/8600 1/4406 - - - - - - -
?/? c.533-38A>G r.(=) p.(=) g.10405010T>C Copied from the Exome Variant Server TFAP2A_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.533-23C>T r.(=) p.(=) g.10404995G>A Copied from the Exome Variant Server TFAP2A_000029 6/13006 0/8600 6/4406 - - - - - - -
?/? c.533-19C>T r.(=) p.(=) g.10404991G>A Copied from the Exome Variant Server TFAP2A_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.548C>A r.(?) p.(Ser183Tyr) g.10404957G>T Copied from the Exome Variant Server TFAP2A_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.573C>T r.(=) p.(=) g.10404932G>A Copied from the Exome Variant Server TFAP2A_000023 13/13006 9/8600 4/4406 - - - - - - -
?/? c.591G>A r.(=) p.(=) g.10404914C>T Copied from the Exome Variant Server TFAP2A_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.10404851G>A Copied from the Exome Variant Server TFAP2A_000019 2/13006 2/8600 0/4406 - - - - - - -
?/? c.726G>A r.(=) p.(=) g.10404779C>T Copied from the Exome Variant Server TFAP2A_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.759C>G r.(=) p.(=) g.10404746G>C Copied from the Exome Variant Server TFAP2A_000015 1/12974 0/8586 1/4388 - - - - - - -
?/? c.764+6G>A r.(=) p.(=) g.10404735C>T Copied from the Exome Variant Server TFAP2A_000037 1/12890 0/8524 1/4366 - - - - - - -
?/? c.764+16G>T r.(=) p.(=) g.10404725C>A Copied from the Exome Variant Server TFAP2A_000035 3/12400 0/8238 3/4162 - - - - - - -
?/? c.764+24_764+25insC r.(=) p.(=) g.10404716_10404717insG Copied from the Exome Variant Server TFAP2A_000033 37/8006 6/5426 31/2580 - - - - - - -
?/? c.764+36_764+37insCCCGC r.(=) p.(=) g.10404704_10404705insGCGGG Copied from the Exome Variant Server TFAP2A_000030 59/5044 6/3588 53/1456 - - - - - - -
?/? c.765-20C>T r.(=) p.(=) g.10402863G>A Copied from the Exome Variant Server TFAP2A_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.820T>C r.(=) p.(=) g.10402788A>G Copied from the Exome Variant Server TFAP2A_000026 67/13006 0/8600 67/4406 - - - - - - -
?/? c.884-25G>T r.(=) p.(=) g.10400847C>A Copied from the Exome Variant Server TFAP2A_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.912T>C r.(=) p.(=) g.10400794A>G Copied from the Exome Variant Server TFAP2A_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.918C>T r.(=) p.(=) g.10400788G>A Copied from the Exome Variant Server TFAP2A_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.919G>A r.(?) p.(Val307Met) g.10400787C>T Copied from the Exome Variant Server TFAP2A_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.932A>C r.(?) p.(Glu311Ala) g.10400774T>G Copied from the Exome Variant Server TFAP2A_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1025+8A>G r.(=) p.(=) g.10400673T>C Copied from the Exome Variant Server TFAP2A_000014 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1025+21G>A r.(=) p.(=) g.10400660C>T Copied from the Exome Variant Server TFAP2A_000013 44/13006 42/8600 2/4406 - - - - - - -
?/? c.1025+25C>G r.(=) p.(=) g.10400656G>C Copied from the Exome Variant Server TFAP2A_000012 4/13006 2/8600 2/4406 - - - - - - -
?/? c.1025+42_1025+43del r.(=) p.(=) g.10400638_10400639del Copied from the Exome Variant Server TFAP2A_000011 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1026-49G>A r.(=) p.(=) g.10398987C>T Copied from the Exome Variant Server TFAP2A_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1026-44T>A r.(=) p.(=) g.10398982A>T Copied from the Exome Variant Server TFAP2A_000009 4197/13006 1306/8600 2891/4406 - - - - - - -
?/? c.1047C>T r.(=) p.(=) g.10398917G>A Copied from the Exome Variant Server TFAP2A_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1074C>T r.(=) p.(=) g.10398890G>A Copied from the Exome Variant Server TFAP2A_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1143C>T r.(=) p.(=) g.10398821G>A Copied from the Exome Variant Server TFAP2A_000006 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1188G>T r.(=) p.(=) g.10398776C>A Copied from the Exome Variant Server TFAP2A_000005 213/13006 0/8600 213/4406 - - - - - - -
?/? c.1209C>T r.(=) p.(=) g.10398755G>A Copied from the Exome Variant Server TFAP2A_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1257C>T r.(=) p.(=) g.10398707G>A Copied from the Exome Variant Server TFAP2A_000003 1615/13006 1231/8600 384/4406 - - - - - - -
?/? c.1296G>A r.(=) p.(=) g.10398668C>T Copied from the Exome Variant Server TFAP2A_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*24C>T r.(=) p.(=) g.10398626G>A Copied from the Exome Variant Server TFAP2A_000001 3/12986 3/8582 0/4404 - - - - - - -
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