All transcript variants in gene TFAP2C

Information The variants shown are described using the NM_003222.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-19T>C r.(=) p.(=) g.55204582T>C Copied from the Exome Variant Server TFAP2C_000001 1/13006 1/8600 0/4406
?/? c.48+47C>A r.(=) p.(=) g.55204695C>A Copied from the Exome Variant Server TFAP2C_000002 4/12892 0/8526 4/4366
?/? c.48+68C>A r.(=) p.(=) g.55204716C>A Copied from the Exome Variant Server TFAP2C_000003 20/4566 0/3182 20/1384
?/? c.49-48G>A r.(=) p.(=) g.55206213G>A Copied from the Exome Variant Server TFAP2C_000004 1/12316 0/8216 1/4100
?/? c.49-30G>C r.(=) p.(=) g.55206231G>C Copied from the Exome Variant Server TFAP2C_000005 2/12760 2/8464 0/4296
?/? c.49-28G>A r.(=) p.(=) g.55206233G>A Copied from the Exome Variant Server TFAP2C_000006 4/12812 1/8496 3/4316
?/? c.49-19_49-18del r.(=) p.(=) g.55206242_55206243del Copied from the Exome Variant Server TFAP2C_000007 165/12324 111/8154 54/4170
?/? c.49-18del r.(=) p.(=) g.55206243del Copied from the Exome Variant Server TFAP2C_000009 1662/12324 1140/8154 522/4170
?/? c.49-18dup r.(=) p.(=) g.55206243dup Copied from the Exome Variant Server TFAP2C_000008 1086/12324 597/8154 489/4170
?/? c.66C>T r.(=) p.(=) g.55206278C>T Copied from the Exome Variant Server TFAP2C_000010 1/13004 1/8598 0/4406
?/? c.123C>T r.(=) p.(=) g.55206335C>T Copied from the Exome Variant Server TFAP2C_000011 38/13006 34/8600 4/4406
?/? c.133C>G r.(?) p.(Pro45Ala) g.55206345C>G Copied from the Exome Variant Server TFAP2C_000012 1/13006 1/8600 0/4406
?/? c.189C>G r.(=) p.(=) g.55206401C>G Copied from the Exome Variant Server TFAP2C_000013 98/13006 93/8600 5/4406
?/? c.255C>A r.(=) p.(=) g.55206467C>A Copied from the Exome Variant Server TFAP2C_000014 1/12976 0/8586 1/4390
?/? c.279G>A r.(=) p.(=) g.55206491G>A Copied from the Exome Variant Server TFAP2C_000015 2/12414 0/8260 2/4154
?/? c.290G>T r.(?) p.(Gly97Val) g.55206502G>T Copied from the Exome Variant Server TFAP2C_000016 1/12204 1/8122 0/4082
?/? c.345C>T r.(=) p.(=) g.55206557C>T Copied from the Exome Variant Server TFAP2C_000017 24/10298 0/6786 24/3512
?/? c.449_450del r.(?) p.(Leu150Profs*72) g.55206661_55206662del Copied from the Exome Variant Server TFAP2C_000018 14/12060 12/7976 2/4084
?/? c.497G>A r.(?) p.(Gly166Glu) g.55206709G>A Copied from the Exome Variant Server TFAP2C_000019 2/12988 2/8590 0/4398
?/? c.534+46C>T r.(=) p.(=) g.55206792C>T Copied from the Exome Variant Server TFAP2C_000020 2/13006 2/8600 0/4406
?/? c.535-47_535-46del r.(=) p.(=) g.55206814_55206815del Copied from the Exome Variant Server TFAP2C_000021 17/12518 14/8254 3/4264
?/? c.535-41G>T r.(=) p.(=) g.55206820G>T Copied from the Exome Variant Server TFAP2C_000022 90/13006 81/8600 9/4406
?/? c.535-34C>G r.(=) p.(=) g.55206827C>G Copied from the Exome Variant Server TFAP2C_000023 1/13006 0/8600 1/4406
?/? c.535-7C>T r.(=) p.(=) g.55206854C>T Copied from the Exome Variant Server TFAP2C_000024 1/13006 1/8600 0/4406
?/? c.565G>A r.(?) p.(Asp189Asn) g.55206891G>A Copied from the Exome Variant Server TFAP2C_000025 1/13006 0/8600 1/4406
?/? c.603C>T r.(=) p.(=) g.55208425C>T Copied from the Exome Variant Server TFAP2C_000026 1/13006 1/8600 0/4406
?/? c.648C>T r.(=) p.(=) g.55208470C>T Copied from the Exome Variant Server TFAP2C_000027 2/13006 0/8600 2/4406
?/? c.696G>A r.(=) p.(=) g.55208518G>A Copied from the Exome Variant Server TFAP2C_000028 9/13006 0/8600 9/4406
?/? c.780G>A r.(=) p.(=) g.55208602G>A Copied from the Exome Variant Server TFAP2C_000029 1/13006 0/8600 1/4406
?/? c.803+50T>C r.(=) p.(=) g.55208675T>C Copied from the Exome Variant Server TFAP2C_000030 1/13006 0/8600 1/4406
?/? c.803+51G>C r.(=) p.(=) g.55208676G>C Copied from the Exome Variant Server TFAP2C_000031 1/13006 1/8600 0/4406
?/? c.804-34G>A r.(=) p.(=) g.55209172G>A Copied from the Exome Variant Server TFAP2C_000032 17/13006 0/8600 17/4406
?/? c.855T>C r.(=) p.(=) g.55209257T>C Copied from the Exome Variant Server TFAP2C_000033 1608/13006 1474/8600 134/4406
?/? c.873C>T r.(=) p.(=) g.55209275C>T Copied from the Exome Variant Server TFAP2C_000034 1/13006 0/8600 1/4406
?/? c.885A>G r.(=) p.(=) g.55209287A>G Copied from the Exome Variant Server TFAP2C_000035 1/13006 1/8600 0/4406
?/? c.889G>A r.(?) p.(Ala297Thr) g.55209291G>A Copied from the Exome Variant Server TFAP2C_000036 5/13006 0/8600 5/4406
?/? c.922+26G>A r.(=) p.(=) g.55209350G>A Copied from the Exome Variant Server TFAP2C_000037 71/13006 0/8600 71/4406
?/? c.922+39T>C r.(=) p.(=) g.55209363T>C Copied from the Exome Variant Server TFAP2C_000038 1/13006 0/8600 1/4406
?/? c.923-47G>T r.(=) p.(=) g.55211619G>T Copied from the Exome Variant Server TFAP2C_000039 1/13006 0/8600 1/4406
?/? c.923-31C>T r.(=) p.(=) g.55211635C>T Copied from the Exome Variant Server TFAP2C_000040 13/13006 12/8600 1/4406
?/? c.1029T>C r.(=) p.(=) g.55211772T>C Copied from the Exome Variant Server TFAP2C_000041 1/13006 1/8600 0/4406
?/? c.1052T>C r.(?) p.(Met351Thr) g.55211795T>C Copied from the Exome Variant Server TFAP2C_000042 2/13006 0/8600 2/4406
?/? c.1056A>G r.(=) p.(=) g.55211799A>G Copied from the Exome Variant Server TFAP2C_000043 2/13006 2/8600 0/4406
?/? c.1062G>A r.(=) p.(=) g.55211805G>A Copied from the Exome Variant Server TFAP2C_000044 1/13006 0/8600 1/4406
?/? c.1067+9C>T r.(=) p.(=) g.55211819C>T Copied from the Exome Variant Server TFAP2C_000045 3/13006 0/8600 3/4406
?/? c.1067+33C>T r.(=) p.(=) g.55211843C>T Copied from the Exome Variant Server TFAP2C_000046 1/13006 1/8600 0/4406
?/? c.1068-50C>T r.(=) p.(=) g.55212734C>T Copied from the Exome Variant Server TFAP2C_000047 4/13004 0/8600 4/4404
?/? c.1068-49C>A r.(=) p.(=) g.55212735C>A Copied from the Exome Variant Server TFAP2C_000048 14/13004 13/8600 1/4404
?/? c.1068-30A>T r.(=) p.(=) g.55212754A>T Copied from the Exome Variant Server TFAP2C_000049 1/13006 1/8600 0/4406
?/? c.1109G>A r.(?) p.(Arg370Gln) g.55212825G>A Copied from the Exome Variant Server TFAP2C_000050 1/13006 1/8600 0/4406
?/? c.1134C>T r.(=) p.(=) g.55212850C>T Copied from the Exome Variant Server TFAP2C_000051 2/13006 1/8600 1/4406
?/? c.1135G>A r.(?) p.(Ala379Thr) g.55212851G>A Copied from the Exome Variant Server TFAP2C_000052 23/13006 1/8600 22/4406
?/? c.1152G>A r.(=) p.(=) g.55212868G>A Copied from the Exome Variant Server TFAP2C_000053 1/13006 0/8600 1/4406
?/? c.1215C>T r.(=) p.(=) g.55212931C>T Copied from the Exome Variant Server TFAP2C_000054 2/13006 1/8600 1/4406
?/? c.1224G>A r.(=) p.(=) g.55212940G>A Copied from the Exome Variant Server TFAP2C_000055 1/13006 1/8600 0/4406
?/? c.1231G>T r.(?) p.(Ala411Ser) g.55212947G>T Copied from the Exome Variant Server TFAP2C_000056 1/13006 0/8600 1/4406
?/? c.1262T>C r.(?) p.(Ile421Thr) g.55212978T>C Copied from the Exome Variant Server TFAP2C_000057 1/13006 1/8600 0/4406
?/? c.1265T>C r.(?) p.(Val422Ala) g.55212981T>C Copied from the Exome Variant Server TFAP2C_000058 1/13006 0/8600 1/4406
?/? c.1275A>G r.(=) p.(=) g.55212991A>G Copied from the Exome Variant Server TFAP2C_000059 1/13006 1/8600 0/4406
?/? c.1314T>C r.(=) p.(=) g.55213030T>C Copied from the Exome Variant Server TFAP2C_000060 3/13006 3/8600 0/4406
?/? c.*8A>C r.(=) p.(=) g.55213077A>C Copied from the Exome Variant Server TFAP2C_000061 16/13006 0/8600 16/4406
?/? c.*9C>T r.(=) p.(=) g.55213078C>T Copied from the Exome Variant Server TFAP2C_000062 1/13006 0/8600 1/4406
?/? c.*13G>A r.(=) p.(=) g.55213082G>A Copied from the Exome Variant Server TFAP2C_000063 160/13006 138/8600 22/4406
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