All transcript variants in gene ETV6

Information The variants shown are described using the NM_001987.4 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-66del r.(=) p.(=) g.11802996del Copied from the Exome Variant Server ETV6_000001 25/12518 18/8254 7/4264
?/? c.-21T>A r.(=) p.(=) g.11803041T>A Copied from the Exome Variant Server ETV6_000002 1/13006 1/8600 0/4406
?/? c.-20G>C r.(=) p.(=) g.11803042G>C Copied from the Exome Variant Server ETV6_000003 4/13006 4/8600 0/4406
?/? c.27C>A r.(?) p.(Ser9Arg) g.11803088C>A Copied from the Exome Variant Server ETV6_000004 1/13006 0/8600 1/4406
?/? c.33+82C>T r.(=) p.(=) g.11803176C>T Copied from the Exome Variant Server ETV6_000005 3/4566 0/3182 3/1384
?/? c.34-1647_34-1633del r.(=) p.(=) g.11903737_11903751del Copied from the Exome Variant Server ETV6_000006 1728/5714 1392/3930 336/1784
?/? c.34-1646_34-1633del r.(=) p.(=) g.11903738_11903751del Copied from the Exome Variant Server ETV6_000007 16/5714 16/3930 0/1784
?/? c.34-1065C>T r.(=) p.(=) g.11904319C>T Copied from the Exome Variant Server ETV6_000008 9/5734 0/3982 9/1752
?/? c.34-1061_34-1060insT r.(=) p.(=) g.11904323_11904324insT Copied from the Exome Variant Server ETV6_000009 1/6882 0/4568 1/2314
?/? c.34-1005T>A r.(=) p.(=) g.11904379T>A Copied from the Exome Variant Server ETV6_000010 1/5734 1/3982 0/1752
?/? c.34-632T>C r.(=) p.(=) g.11904752T>C Copied from the Exome Variant Server ETV6_000011 2453/5728 1546/3978 907/1750
?/? c.34-622T>C r.(=) p.(=) g.11904762T>C Copied from the Exome Variant Server ETV6_000012 1/5728 0/3978 1/1750
?/? c.34-617C>T r.(=) p.(=) g.11904767C>T Copied from the Exome Variant Server ETV6_000013 1651/5730 1402/3980 249/1750
?/? c.34-614A>T r.(=) p.(=) g.11904770A>T Copied from the Exome Variant Server ETV6_000014 2519/5730 1549/3980 970/1750
?/? c.34-597T>A r.(=) p.(=) g.11904787T>A Copied from the Exome Variant Server ETV6_000015 105/5732 1/3982 104/1750
?/? c.34-559T>C r.(=) p.(=) g.11904825T>C Copied from the Exome Variant Server ETV6_000016 2/5734 1/3982 1/1752
?/? c.34-557A>C r.(=) p.(=) g.11904827A>C Copied from the Exome Variant Server ETV6_000017 75/5732 1/3982 74/1750
?/? c.34-14C>T r.(=) p.(=) g.11905370C>T Copied from the Exome Variant Server ETV6_000018 1/13006 0/8600 1/4406
?/? c.34-7T>C r.(=) p.(=) g.11905377T>C Copied from the Exome Variant Server ETV6_000019 8/13006 0/8600 8/4406
?/? c.51T>C r.(=) p.(=) g.11905401T>C Copied from the Exome Variant Server ETV6_000020 1/13006 1/8600 0/4406
?/? c.57T>C r.(=) p.(=) g.11905407T>C Copied from the Exome Variant Server ETV6_000021 6/13006 6/8600 0/4406
?/? c.62A>G r.(?) p.(Glu21Gly) g.11905412A>G Copied from the Exome Variant Server ETV6_000022 1/13006 0/8600 1/4406
?/? c.66C>T r.(=) p.(=) g.11905416C>T Copied from the Exome Variant Server ETV6_000023 1/13006 1/8600 0/4406
?/? c.72G>A r.(=) p.(=) g.11905422G>A Copied from the Exome Variant Server ETV6_000024 3/13006 3/8600 0/4406
?/? c.77G>C r.(?) p.(Ser26Thr) g.11905427G>C Copied from the Exome Variant Server ETV6_000025 1/13006 1/8600 0/4406
?/? c.82G>A r.(?) p.(Ala28Thr) g.11905432G>A Copied from the Exome Variant Server ETV6_000026 1/13006 0/8600 1/4406
?/? c.92C>T r.(?) p.(Thr31Met) g.11905442C>T Copied from the Exome Variant Server ETV6_000027 2/13006 0/8600 2/4406
?/? c.93G>A r.(=) p.(=) g.11905443G>A Copied from the Exome Variant Server ETV6_000028 1/13006 0/8600 1/4406
?/? c.116G>A r.(?) p.(Arg39Gln) g.11905466G>A Copied from the Exome Variant Server ETV6_000029 2/13006 2/8600 0/4406
?/? c.163+8T>C r.(=) p.(=) g.11905521T>C Copied from the Exome Variant Server ETV6_000030 1/13006 0/8600 1/4406
?/? c.163+10C>T r.(=) p.(=) g.11905523C>T Copied from the Exome Variant Server ETV6_000031 1/13006 0/8600 1/4406
?/? c.163+13G>A r.(=) p.(=) g.11905526G>A Copied from the Exome Variant Server ETV6_000032 1/13006 1/8600 0/4406
?/? c.163+30G>C r.(=) p.(=) g.11905543G>C Copied from the Exome Variant Server ETV6_000033 1/13000 0/8594 1/4406
?/? c.163+40C>T r.(=) p.(=) g.11905553C>T Copied from the Exome Variant Server ETV6_000034 1/13000 1/8594 0/4406
?/? c.163+46_163+47insC r.(=) p.(=) g.11905559_11905560insC Copied from the Exome Variant Server ETV6_000035 1/12496 0/8238 1/4258
?/? c.163+47C>T r.(=) p.(=) g.11905560C>T Copied from the Exome Variant Server ETV6_000036 34/13000 30/8594 4/4406
?/? c.163+48del r.(=) p.(=) g.11905561del Copied from the Exome Variant Server ETV6_000037 69/12496 59/8238 10/4258
?/? c.163+16389A>G r.(=) p.(=) g.11921902A>G Copied from the Exome Variant Server ETV6_000038 70/5728 0/3978 70/1750
?/? c.163+16417T>G r.(=) p.(=) g.11921930T>G Copied from the Exome Variant Server ETV6_000039 1/5720 0/3970 1/1750
?/? c.164-26T>A r.(=) p.(=) g.11992048T>A Copied from the Exome Variant Server ETV6_000040 1/13006 1/8600 0/4406
?/? c.164-17C>T r.(=) p.(=) g.11992057C>T Copied from the Exome Variant Server ETV6_000041 8/13006 5/8600 3/4406
?/? c.196G>A r.(?) p.(Val66Ile) g.11992106G>A Copied from the Exome Variant Server ETV6_000042 1/13006 1/8600 0/4406
?/? c.201C>G r.(=) p.(=) g.11992111C>G Copied from the Exome Variant Server ETV6_000043 1/13006 1/8600 0/4406
?/? c.258G>A r.(=) p.(=) g.11992168G>A Copied from the Exome Variant Server ETV6_000044 1702/13006 887/8600 815/4406
?/? c.328+31A>G r.(=) p.(=) g.11992269A>G Copied from the Exome Variant Server ETV6_000046 1/13006 0/8600 1/4406
?/? c.329-26G>A r.(=) p.(=) g.12006335G>A Copied from the Exome Variant Server ETV6_000045 1/13006 1/8600 0/4406
?/? c.380G>A r.(?) p.(Arg127Gln) g.12006412G>A Copied from the Exome Variant Server ETV6_000047 11/13006 8/8600 3/4406
?/? c.402C>T r.(=) p.(=) g.12006434C>T Copied from the Exome Variant Server ETV6_000048 1/13006 1/8600 0/4406
?/? c.463+10G>T r.(=) p.(=) g.12006505G>T Copied from the Exome Variant Server ETV6_000049 1/13006 1/8600 0/4406
?/? c.463+49G>A r.(=) p.(=) g.12006544G>A Copied from the Exome Variant Server ETV6_000050 2118/13006 1261/8600 857/4406
?/? c.464-51T>C r.(=) p.(=) g.12022307T>C Copied from the Exome Variant Server ETV6_000051 1/13006 1/8600 0/4406
?/? c.464-42A>G r.(=) p.(=) g.12022316A>G Copied from the Exome Variant Server ETV6_000052 1/13006 1/8600 0/4406
?/? c.464-41A>G r.(=) p.(=) g.12022317A>G Copied from the Exome Variant Server ETV6_000053 5/13006 1/8600 4/4406
?/? c.496G>A r.(?) p.(Val166Met) g.12022390G>A Copied from the Exome Variant Server ETV6_000054 7/13006 0/8600 7/4406
?/? c.535T>C r.(=) p.(=) g.12022429T>C Copied from the Exome Variant Server ETV6_000055 1/13006 0/8600 1/4406
?/? c.542G>A r.(?) p.(Arg181His) g.12022436G>A Copied from the Exome Variant Server ETV6_000056 1/13006 1/8600 0/4406
?/? c.556A>G r.(?) p.(Ile186Val) g.12022450A>G Copied from the Exome Variant Server ETV6_000057 1/13006 1/8600 0/4406
?/? c.561G>A r.(=) p.(=) g.12022455G>A Copied from the Exome Variant Server ETV6_000058 1/13006 0/8600 1/4406
?/? c.573G>T r.(=) p.(=) g.12022467G>T Copied from the Exome Variant Server ETV6_000059 3/13006 3/8600 0/4406
?/? c.587C>T r.(?) p.(Pro196Leu) g.12022481C>T Copied from the Exome Variant Server ETV6_000060 1/13006 0/8600 1/4406
?/? c.588C>T r.(=) p.(=) g.12022482C>T Copied from the Exome Variant Server ETV6_000061 1/13006 1/8600 0/4406
?/? c.595C>T r.(?) p.(Arg199Trp) g.12022489C>T Copied from the Exome Variant Server ETV6_000062 1/13006 1/8600 0/4406
?/? c.602T>C r.(?) p.(Leu201Pro) g.12022496T>C Copied from the Exome Variant Server ETV6_000064 64/13006 57/8600 7/4406
?/? c.627C>T r.(=) p.(=) g.12022521C>T Copied from the Exome Variant Server ETV6_000066 3/13006 3/8600 0/4406
?/? c.632G>A r.(?) p.(Arg211His) g.12022526G>A Copied from the Exome Variant Server ETV6_000068 1/13006 0/8600 1/4406
?/? c.642G>A r.(=) p.(=) g.12022536G>A Copied from the Exome Variant Server ETV6_000070 102/13006 0/8600 102/4406
?/? c.668C>T r.(?) p.(Pro223Leu) g.12022562C>T Copied from the Exome Variant Server ETV6_000071 1/13006 1/8600 0/4406
?/? c.699C>T r.(=) p.(=) g.12022593C>T Copied from the Exome Variant Server ETV6_000073 1/13006 1/8600 0/4406
?/? c.740C>T r.(?) p.(Ala247Val) g.12022634C>T Copied from the Exome Variant Server ETV6_000075 1/13006 1/8600 0/4406
?/? c.747C>T r.(=) p.(=) g.12022641C>T Copied from the Exome Variant Server ETV6_000077 1/13006 1/8600 0/4406
?/? c.748G>A r.(?) p.(Glu250Lys) g.12022642G>A Copied from the Exome Variant Server ETV6_000063 1/13006 1/8600 0/4406
?/? c.759G>A r.(=) p.(=) g.12022653G>A Copied from the Exome Variant Server ETV6_000065 1/13006 1/8600 0/4406
?/? c.765A>T r.(=) p.(=) g.12022659A>T Copied from the Exome Variant Server ETV6_000067 2/13006 2/8600 0/4406
?/? c.775C>T r.(?) p.(Arg259Trp) g.12022669C>T Copied from the Exome Variant Server ETV6_000069 1/13006 0/8600 1/4406
?/? c.791G>A r.(?) p.(Arg264His) g.12022685G>A Copied from the Exome Variant Server ETV6_000072 1/13006 0/8600 1/4406
?/? c.853G>A r.(?) p.(Val285Met) g.12022747G>A Copied from the Exome Variant Server ETV6_000074 1/13006 1/8600 0/4406
?/? c.885C>T r.(=) p.(=) g.12022779C>T Copied from the Exome Variant Server ETV6_000076 10/13006 10/8600 0/4406
?/? c.905A>G r.(?) p.(Lys302Arg) g.12022799A>G Copied from the Exome Variant Server ETV6_000078 2/13006 2/8600 0/4406
?/? c.981G>A r.(=) p.(=) g.12022875G>A Copied from the Exome Variant Server ETV6_000079 1/13006 1/8600 0/4406
?/? c.985G>A r.(?) p.(Ala329Thr) g.12022879G>A Copied from the Exome Variant Server ETV6_000080 1/13006 1/8600 0/4406
?/? c.1009+1_1009+4del r.spl? p.? g.12022904_12022907del Copied from the Exome Variant Server ETV6_000081 1/12518 1/8254 0/4264
?/? c.1009+19C>T r.(=) p.(=) g.12022922C>T Copied from the Exome Variant Server ETV6_000084 126/13002 2/8598 124/4404
?/? c.1009+23G>A r.(=) p.(=) g.12022926G>A Copied from the Exome Variant Server ETV6_000085 1/12994 1/8594 0/4400
?/? c.1010-14C>T r.(=) p.(=) g.12037365C>T Copied from the Exome Variant Server ETV6_000087 1/13006 1/8600 0/4406
?/? c.1010-13T>C r.(=) p.(=) g.12037366T>C Copied from the Exome Variant Server ETV6_000088 1/13006 0/8600 1/4406
?/? c.1032C>T r.(=) p.(=) g.12037401C>T Copied from the Exome Variant Server ETV6_000089 1/13006 1/8600 0/4406
?/? c.1062C>T r.(=) p.(=) g.12037431C>T Copied from the Exome Variant Server ETV6_000090 1/13006 1/8600 0/4406
?/? c.1075C>A r.(=) p.(=) g.12037444C>A Copied from the Exome Variant Server ETV6_000091 52/13006 47/8600 5/4406
?/? c.1095C>T r.(=) p.(=) g.12037464C>T Copied from the Exome Variant Server ETV6_000092 1/13006 1/8600 0/4406
?/? c.1133G>A r.(?) p.(Arg378Gln) g.12037502G>A Copied from the Exome Variant Server ETV6_000093 2/13006 2/8600 0/4406
?/? c.1152+5A>G r.spl? p.? g.12037526A>G Copied from the Exome Variant Server ETV6_000094 9/13006 0/8600 9/4406
?/? c.1253+8T>G r.(=) p.(=) g.12038968T>G Copied from the Exome Variant Server ETV6_000095 1/13006 0/8600 1/4406
?/? c.1253+41G>C r.(=) p.(=) g.12039001G>C Copied from the Exome Variant Server ETV6_000096 11/13006 0/8600 11/4406
?/? c.1254-48G>A r.(=) p.(=) g.12043827G>A Copied from the Exome Variant Server ETV6_000097 1/13006 0/8600 1/4406
?/? c.1254-12C>T r.(=) p.(=) g.12043863C>T Copied from the Exome Variant Server ETV6_000098 512/13006 4/8600 508/4406
?/? c.*17C>G r.(=) p.(=) g.12043997C>G Copied from the Exome Variant Server ETV6_000082 54/13006 1/8600 53/4406
?/? c.*18C>T r.(=) p.(=) g.12043998C>T Copied from the Exome Variant Server ETV6_000083 1/13006 1/8600 0/4406
?/? c.*23C>T r.(=) p.(=) g.12044003C>T Copied from the Exome Variant Server ETV6_000086 173/13006 155/8600 18/4406
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