All transcript variants in gene ETV5

Information The variants shown are described using the NM_004454.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-34C>T r.(=) p.(=) g.185823691G>A Copied from the Exome Variant Server ETV5_000099 1/13006 1/8600 0/4406
?/? c.-24G>T r.(=) p.(=) g.185823681C>A Copied from the Exome Variant Server ETV5_000098 1/13006 1/8600 0/4406
?/? c.-12G>A r.(=) p.(=) g.185823669C>T Copied from the Exome Variant Server ETV5_000097 5/13006 0/8600 5/4406
?/? c.-10T>C r.(=) p.(=) g.185823667A>G Copied from the Exome Variant Server ETV5_000096 1/13006 1/8600 0/4406
?/? c.10T>A r.(?) p.(Phe4Ile) g.185823648A>T Copied from the Exome Variant Server ETV5_000095 5/13006 0/8600 5/4406
?/? c.45+24T>G r.(=) p.(=) g.185823589A>C Copied from the Exome Variant Server ETV5_000094 25/13006 23/8600 2/4406
?/? c.45+40T>C r.(=) p.(=) g.185823573A>G Copied from the Exome Variant Server ETV5_000093 1/13006 0/8600 1/4406
?/? c.45+48G>A r.(=) p.(=) g.185823565C>T Copied from the Exome Variant Server ETV5_000092 37/13006 36/8600 1/4406
?/? c.96G>A r.(=) p.(=) g.185823451C>T Copied from the Exome Variant Server ETV5_000091 3/13006 2/8600 1/4406
?/? c.133+14C>T r.(=) p.(=) g.185823400G>A Copied from the Exome Variant Server ETV5_000090 2/13006 0/8600 2/4406
?/? c.133+27G>A r.(=) p.(=) g.185823387C>T Copied from the Exome Variant Server ETV5_000089 1/13006 0/8600 1/4406
?/? c.133+56G>A r.(=) p.(=) g.185823358C>T Copied from the Exome Variant Server ETV5_000088 3/4566 3/3182 0/1384
?/? c.134-44C>T r.(=) p.(=) g.185823329G>A Copied from the Exome Variant Server ETV5_000087 1/13006 0/8600 1/4406
?/? c.134-6T>C r.(=) p.(=) g.185823291A>G Copied from the Exome Variant Server ETV5_000086 1/13006 1/8600 0/4406
?/? c.182-46_182-45insC r.(=) p.(=) g.185823189_185823190insG Copied from the Exome Variant Server ETV5_000085 2/12520 2/8254 0/4266
?/? c.182-34A>C r.(=) p.(=) g.185823178T>G Copied from the Exome Variant Server ETV5_000084 12/13004 0/8600 12/4404
?/? c.182-9A>G r.(=) p.(=) g.185823153T>C Copied from the Exome Variant Server ETV5_000083 6/13006 4/8600 2/4406
?/? c.222G>C r.(?) p.(Gln74His) g.185823104C>G Copied from the Exome Variant Server ETV5_000082 2/13006 0/8600 2/4406
?/? c.232C>T r.(=) p.(=) g.185823094G>A Copied from the Exome Variant Server ETV5_000081 1/13006 1/8600 0/4406
?/? c.232+9C>A r.(=) p.(=) g.185823085G>T Copied from the Exome Variant Server ETV5_000080 1/13006 0/8600 1/4406
?/? c.232+46G>A r.(=) p.(=) g.185823048C>T Copied from the Exome Variant Server ETV5_000079 2/13006 1/8600 1/4406
?/? c.232+68A>C r.(=) p.(=) g.185823026T>G Copied from the Exome Variant Server ETV5_000077 29/4566 0/3182 29/1384
?/? c.233-20C>A r.(=) p.(=) g.185798984G>T Copied from the Exome Variant Server ETV5_000075 1/13006 1/8600 0/4406
?/? c.312T>C r.(=) p.(=) g.185798885A>G Copied from the Exome Variant Server ETV5_000073 1/13006 1/8600 0/4406
?/? c.335A>G r.(?) p.(Tyr112Cys) g.185798862T>C Copied from the Exome Variant Server ETV5_000078 23/13006 18/8600 5/4406
?/? c.362+40A>G r.(=) p.(=) g.185798795T>C Copied from the Exome Variant Server ETV5_000076 3/13006 3/8600 0/4406
?/? c.363-39A>G r.(=) p.(=) g.185797932T>C Copied from the Exome Variant Server ETV5_000074 1/11974 1/8040 0/3934
?/? c.363-29A>G r.(=) p.(=) g.185797922T>C Copied from the Exome Variant Server ETV5_000072 1/12112 1/8116 0/3996
?/? c.363-21C>T r.(=) p.(=) g.185797914G>A Copied from the Exome Variant Server ETV5_000071 2/12216 0/8182 2/4034
?/? c.370G>A r.(?) p.(Asp124Asn) g.185797886C>T Copied from the Exome Variant Server ETV5_000070 1/12430 0/8308 1/4122
?/? c.395_396insA r.(?) p.(Pro133Alafs*77) g.185797860_185797861insT Copied from the Exome Variant Server ETV5_000068 616/12044 367/8020 249/4024
?/? c.395_396insAA r.(?) p.(Pro133Serfs*3) g.185797860_185797861insTT Copied from the Exome Variant Server ETV5_000069 254/12044 168/8020 86/4024
?/? c.411T>C r.(=) p.(=) g.185797845A>G Copied from the Exome Variant Server ETV5_000067 1/12696 0/8468 1/4228
?/? c.445C>G r.(?) p.(Leu149Val) g.185797811G>C Copied from the Exome Variant Server ETV5_000066 165/12916 0/8560 165/4356
?/? c.451C>T r.(?) p.(Pro151Ser) g.185797805G>A Copied from the Exome Variant Server ETV5_000065 1/12932 1/8576 0/4356
?/? c.529G>A r.(?) p.(Ala177Thr) g.185797727C>T Copied from the Exome Variant Server ETV5_000064 5/13006 0/8600 5/4406
?/? c.540G>A r.(=) p.(=) g.185797716C>T Copied from the Exome Variant Server ETV5_000063 3/13006 3/8600 0/4406
?/? c.550C>T r.(?) p.(Pro184Ser) g.185797706G>A Copied from the Exome Variant Server ETV5_000062 1/13006 1/8600 0/4406
?/? c.576G>A r.(=) p.(=) g.185797680C>T Copied from the Exome Variant Server ETV5_000061 1/13006 0/8600 1/4406
?/? c.584G>A r.(?) p.(Arg195Gln) g.185797672C>T Copied from the Exome Variant Server ETV5_000060 9/13006 9/8600 0/4406
?/? c.650+42C>T r.(=) p.(=) g.185797564G>A Copied from the Exome Variant Server ETV5_000059 6/13006 4/8600 2/4406
?/? c.722C>G r.(?) p.(Pro241Arg) g.185783790G>C Copied from the Exome Variant Server ETV5_000058 1/13006 1/8600 0/4406
?/? c.734G>A r.(?) p.(Arg245Gln) g.185783778C>T Copied from the Exome Variant Server ETV5_000057 1/13006 0/8600 1/4406
?/? c.735G>A r.(=) p.(=) g.185783777C>T Copied from the Exome Variant Server ETV5_000056 21/13006 0/8600 21/4406
?/? c.751A>G r.(?) p.(Ile251Val) g.185783761T>C Copied from the Exome Variant Server ETV5_000055 2/13006 2/8600 0/4406
?/? c.771G>A r.(=) p.(=) g.185783741C>T Copied from the Exome Variant Server ETV5_000054 1/13006 1/8600 0/4406
?/? c.783A>G r.(=) p.(=) g.185783729T>C Copied from the Exome Variant Server ETV5_000053 38/13006 35/8600 3/4406
?/? c.819T>C r.(=) p.(=) g.185783693A>G Copied from the Exome Variant Server ETV5_000052 2/13006 0/8600 2/4406
?/? c.827C>T r.(?) p.(Pro276Leu) g.185783685G>A Copied from the Exome Variant Server ETV5_000051 1/13006 1/8600 0/4406
?/? c.828G>T r.(=) p.(=) g.185783684C>A Copied from the Exome Variant Server ETV5_000050 1/13006 1/8600 0/4406
?/? c.830G>C r.(?) p.(Gly277Ala) g.185783682C>G Copied from the Exome Variant Server ETV5_000049 1/13006 1/8600 0/4406
?/? c.850C>T r.(?) p.(His284Tyr) g.185783662G>A Copied from the Exome Variant Server ETV5_000048 2/13006 2/8600 0/4406
?/? c.861G>T r.(?) p.(Gln287His) g.185783651C>A Copied from the Exome Variant Server ETV5_000047 1/13006 0/8600 1/4406
?/? c.868A>G r.(?) p.(Met290Val) g.185783644T>C Copied from the Exome Variant Server ETV5_000046 2/13006 2/8600 0/4406
?/? c.901G>A r.(?) p.(Val301Ile) g.185783611C>T Copied from the Exome Variant Server ETV5_000045 1/13006 1/8600 0/4406
?/? c.910+52C>T r.(=) p.(=) g.185783550G>A Copied from the Exome Variant Server ETV5_000044 1/5734 0/3982 1/1752
?/? c.911-14T>C r.(=) p.(=) g.185782279A>G Copied from the Exome Variant Server ETV5_000043 1/13006 1/8600 0/4406
?/? c.922T>C r.(?) p.(Cys308Arg) g.185782254A>G Copied from the Exome Variant Server ETV5_000042 1/13006 0/8600 1/4406
?/? c.940A>G r.(?) p.(Arg314Gly) g.185782236T>C Copied from the Exome Variant Server ETV5_000041 1/13006 0/8600 1/4406
?/? c.970+43T>A r.(=) p.(=) g.185782163A>T Copied from the Exome Variant Server ETV5_000040 1/13006 1/8600 0/4406
?/? c.970+38_970+44del r.(=) p.(=) g.185782162_185782168del Copied from the Exome Variant Server ETV5_000039 104/12520 88/8254 16/4266
?/? c.970+66G>A r.(=) p.(=) g.185782140C>T Copied from the Exome Variant Server ETV5_000038 2/4566 0/3182 2/1384
?/? c.971-30A>G r.(=) p.(=) g.185775310T>C Copied from the Exome Variant Server ETV5_000037 1/13006 1/8600 0/4406
?/? c.971-29C>T r.(=) p.(=) g.185775309G>A Copied from the Exome Variant Server ETV5_000036 1/13006 0/8600 1/4406
?/? c.978A>G r.(=) p.(=) g.185775273T>C Copied from the Exome Variant Server ETV5_000035 1/13006 1/8600 0/4406
?/? c.1008C>T r.(=) p.(=) g.185775243G>A Copied from the Exome Variant Server ETV5_000034 1/13006 1/8600 0/4406
?/? c.1017T>C r.(=) p.(=) g.185775234A>G Copied from the Exome Variant Server ETV5_000032 3/13006 3/8600 0/4406
?/? c.1039+9C>T r.(=) p.(=) g.185775203G>A Copied from the Exome Variant Server ETV5_000030 1/13006 1/8600 0/4406
?/? c.1039+34A>G r.(=) p.(=) g.185775178T>C Copied from the Exome Variant Server ETV5_000029 1/13006 0/8600 1/4406
?/? c.1043A>G r.(?) p.(Lys348Arg) g.185775030T>C Copied from the Exome Variant Server ETV5_000027 2/13006 0/8600 2/4406
?/? c.1203G>A r.(=) p.(=) g.185774870C>T Copied from the Exome Variant Server ETV5_000025 2/13006 2/8600 0/4406
?/? c.1209+26C>T r.(=) p.(=) g.185774838G>A Copied from the Exome Variant Server ETV5_000023 1/13006 1/8600 0/4406
?/? c.1209+46T>A r.(=) p.(=) g.185774818A>T Copied from the Exome Variant Server ETV5_000021 3/13006 3/8600 0/4406
?/? c.1209+46_1209+48del r.(=) p.(=) g.185774816_185774818del Copied from the Exome Variant Server ETV5_000019 7/12520 4/8254 3/4266
?/? c.1209+51G>T r.(=) p.(=) g.185774813C>A Copied from the Exome Variant Server ETV5_000033 352/13006 215/8600 137/4406
?/? c.1210-34G>A r.(=) p.(=) g.185769954C>T Copied from the Exome Variant Server ETV5_000031 21/13006 3/8600 18/4406
?/? c.1210-30C>T r.(=) p.(=) g.185769950G>A Copied from the Exome Variant Server ETV5_000028 10/13006 0/8600 10/4406
?/? c.1210-19del r.(=) p.(=) g.185769939del Copied from the Exome Variant Server ETV5_000026 1/12520 0/8254 1/4266
?/? c.1210-13C>G r.(=) p.(=) g.185769933G>C Copied from the Exome Variant Server ETV5_000024 2/13006 2/8600 0/4406
?/? c.1302C>T r.(=) p.(=) g.185769828G>A Copied from the Exome Variant Server ETV5_000022 2/13006 2/8600 0/4406
?/? c.1311+14C>A r.(=) p.(=) g.185769805G>T Copied from the Exome Variant Server ETV5_000020 2/13006 0/8600 2/4406
?/? c.1311+27C>A r.(=) p.(=) g.185769792G>T Copied from the Exome Variant Server ETV5_000018 69/13006 0/8600 69/4406
?/? c.1311+32C>T r.(=) p.(=) g.185769787G>A Copied from the Exome Variant Server ETV5_000017 1/13006 1/8600 0/4406
?/? c.1311+50A>G r.(=) p.(=) g.185769769T>C Copied from the Exome Variant Server ETV5_000016 1/13006 0/8600 1/4406
?/? c.1312-28G>T r.(=) p.(=) g.185766677C>A Copied from the Exome Variant Server ETV5_000015 6/13006 6/8600 0/4406
?/? c.1338A>G r.(=) p.(=) g.185766623T>C Copied from the Exome Variant Server ETV5_000014 1/13006 1/8600 0/4406
?/? c.1345T>G r.(?) p.(Cys449Gly) g.185766616A>C Copied from the Exome Variant Server ETV5_000013 1/13006 1/8600 0/4406
?/? c.1395G>A r.(=) p.(=) g.185766566C>T Copied from the Exome Variant Server ETV5_000012 128/13006 0/8600 128/4406
?/? c.1399C>T r.(=) p.(=) g.185766562G>A Copied from the Exome Variant Server ETV5_000011 128/13006 0/8600 128/4406
?/? c.1414G>A r.(?) p.(Glu472Lys) g.185766547C>T Copied from the Exome Variant Server ETV5_000010 1/13006 1/8600 0/4406
?/? c.1435G>A r.(?) p.(Asp479Asn) g.185766526C>T Copied from the Exome Variant Server ETV5_000009 1/13006 0/8600 1/4406
?/? c.1446G>A r.(=) p.(=) g.185766515C>T Copied from the Exome Variant Server ETV5_000008 62/13006 2/8600 60/4406
?/? c.1470C>T r.(=) p.(=) g.185766491G>A Copied from the Exome Variant Server ETV5_000007 1/13006 1/8600 0/4406
?/? c.1504C>T r.(?) p.(Leu502Phe) g.185766457G>A Copied from the Exome Variant Server ETV5_000006 1/13006 1/8600 0/4406
?/? c.1516G>A r.(?) p.(Glu506Lys) g.185766445C>T Copied from the Exome Variant Server ETV5_000005 1/13006 0/8600 1/4406
?/? c.*12G>A r.(=) p.(=) g.185766416C>T Copied from the Exome Variant Server ETV5_000004 8/13006 0/8600 8/4406
?/? c.*14G>A r.(=) p.(=) g.185766414C>T Copied from the Exome Variant Server ETV5_000003 120/13006 104/8600 16/4406
?/? c.*28C>G r.(=) p.(=) g.185766400G>C Copied from the Exome Variant Server ETV5_000002 1/13006 1/8600 0/4406
?/? c.*46A>G r.(=) p.(=) g.185766382T>C Copied from the Exome Variant Server ETV5_000001 3/13006 0/8600 3/4406
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