All transcript variants in gene ELF1

Information The variants shown are described using the NM_172373.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-51G>A r.(=) p.(=) g.41556241C>T Copied from the Exome Variant Server ELF1_000093 4/13000 0/8596 4/4404
?/? c.-31T>A r.(=) p.(=) g.41556221A>T Copied from the Exome Variant Server ELF1_000092 1/13004 0/8598 1/4406
?/? c.-28C>T r.(=) p.(=) g.41556218G>A Copied from the Exome Variant Server ELF1_000091 1/13004 1/8598 0/4406
?/? c.-13G>C r.(=) p.(=) g.41556203C>G Copied from the Exome Variant Server ELF1_000090 1/13000 1/8596 0/4404
?/? c.11T>C r.(?) p.(Val4Ala) g.41556180A>G Copied from the Exome Variant Server ELF1_000089 1/13006 1/8600 0/4406
?/? c.35T>A r.(?) p.(Phe12Tyr) g.41556156A>T Copied from the Exome Variant Server ELF1_000088 1/13006 1/8600 0/4406
?/? c.51C>T r.(=) p.(=) g.41556140G>A Copied from the Exome Variant Server ELF1_000087 1/13004 0/8598 1/4406
?/? c.72+11C>G r.(=) p.(=) g.41556108G>C Copied from the Exome Variant Server ELF1_000086 1/13004 1/8598 0/4406
?/? c.73-43_73-42del r.(=) p.(=) g.41533194_41533195del Copied from the Exome Variant Server ELF1_000085 2/12514 0/8250 2/4264
?/? c.82C>T r.(?) p.(Pro28Ser) g.41533143G>A Copied from the Exome Variant Server ELF1_000084 1/13006 1/8600 0/4406
?/? c.144T>C r.(=) p.(=) g.41533081A>G Copied from the Exome Variant Server ELF1_000083 2/13006 2/8600 0/4406
?/? c.147C>T r.(=) p.(=) g.41533078G>A Copied from the Exome Variant Server ELF1_000082 1/13006 0/8600 1/4406
?/? c.148G>A r.(?) p.(Gly50Ser) g.41533077C>T Copied from the Exome Variant Server ELF1_000081 1/13006 1/8600 0/4406
?/? c.162G>C r.(=) p.(=) g.41533063C>G Copied from the Exome Variant Server ELF1_000080 1/13006 0/8600 1/4406
?/? c.173A>G r.(?) p.(Asn58Ser) g.41533052T>C Copied from the Exome Variant Server ELF1_000079 7064/13006 5931/8600 1133/4406
?/? c.182T>C r.(?) p.(Ile61Thr) g.41533043A>G Copied from the Exome Variant Server ELF1_000078 12/13006 0/8600 12/4406
?/? c.200A>G r.(?) p.(Asp67Gly) g.41533025T>C Copied from the Exome Variant Server ELF1_000077 1/13006 0/8600 1/4406
?/? c.237T>C r.(=) p.(=) g.41532988A>G Copied from the Exome Variant Server ELF1_000076 1/13006 1/8600 0/4406
?/? c.253+5G>A r.spl? p.? g.41532967C>T Copied from the Exome Variant Server ELF1_000075 3/13006 3/8600 0/4406
?/? c.254-37C>T r.(=) p.(=) g.41525609G>A Copied from the Exome Variant Server ELF1_000074 9/13006 7/8600 2/4406
?/? c.254-14T>C r.(=) p.(=) g.41525586A>G Copied from the Exome Variant Server ELF1_000073 6872/13006 5834/8600 1038/4406
?/? c.286A>G r.(?) p.(Ile96Val) g.41525540T>C Copied from the Exome Variant Server ELF1_000072 2/13006 2/8600 0/4406
?/? c.309G>A r.(=) p.(=) g.41525517C>T Copied from the Exome Variant Server ELF1_000071 1/13006 1/8600 0/4406
?/? c.338C>T r.(?) p.(Pro113Leu) g.41525488G>A Copied from the Exome Variant Server ELF1_000070 3/13006 1/8600 2/4406
?/? c.356G>A r.(?) p.(Arg119Gln) g.41525470C>T Copied from the Exome Variant Server ELF1_000069 1/13006 0/8600 1/4406
?/? c.361+29G>A r.(=) p.(=) g.41525436C>T Copied from the Exome Variant Server ELF1_000068 16/13006 0/8600 16/4406
?/? c.423C>T r.(=) p.(=) g.41524048G>A Copied from the Exome Variant Server ELF1_000067 1/13006 1/8600 0/4406
?/? c.424G>A r.(?) p.(Val142Ile) g.41524047C>T Copied from the Exome Variant Server ELF1_000066 1/13006 1/8600 0/4406
?/? c.491C>T r.(?) p.(Pro164Leu) g.41523980G>A Copied from the Exome Variant Server ELF1_000065 5/13006 3/8600 2/4406
?/? c.492G>A r.(=) p.(=) g.41523979C>T Copied from the Exome Variant Server ELF1_000064 5/13006 0/8600 5/4406
?/? c.507A>G r.(=) p.(=) g.41523964T>C Copied from the Exome Variant Server ELF1_000063 1/13006 1/8600 0/4406
?/? c.513G>A r.(=) p.(=) g.41523958C>T Copied from the Exome Variant Server ELF1_000062 2/13006 1/8600 1/4406
?/? c.529+16T>C r.(=) p.(=) g.41523926A>G Copied from the Exome Variant Server ELF1_000061 3/13006 0/8600 3/4406
?/? c.529+47A>T r.(=) p.(=) g.41523895T>A Copied from the Exome Variant Server ELF1_000060 1/13006 1/8600 0/4406
?/? c.530-19A>G r.(=) p.(=) g.41518080T>C Copied from the Exome Variant Server ELF1_000059 1/13006 0/8600 1/4406
?/? c.573G>A r.(=) p.(=) g.41518018C>T Copied from the Exome Variant Server ELF1_000058 2/13006 1/8600 1/4406
?/? c.596A>G r.(?) p.(Lys199Arg) g.41517995T>C Copied from the Exome Variant Server ELF1_000057 1/13006 1/8600 0/4406
?/? c.606T>C r.(=) p.(=) g.41517985A>G Copied from the Exome Variant Server ELF1_000056 6814/13006 5838/8600 976/4406
?/? c.613+29A>G r.(=) p.(=) g.41517949T>C Copied from the Exome Variant Server ELF1_000055 3/13006 0/8600 3/4406
?/? c.613+50A>G r.(=) p.(=) g.41517928T>C Copied from the Exome Variant Server ELF1_000054 1/13002 1/8598 0/4404
?/? c.614-15T>G r.(=) p.(=) g.41517295A>C Copied from the Exome Variant Server ELF1_000053 159/13006 1/8600 158/4406
?/? c.733G>A r.(?) p.(Ala245Thr) g.41517161C>T Copied from the Exome Variant Server ELF1_000052 2/13006 0/8600 2/4406
?/? c.806+6C>T r.(=) p.(=) g.41517082G>A Copied from the Exome Variant Server ELF1_000051 3/13006 1/8600 2/4406
?/? c.806+7G>A r.(=) p.(=) g.41517081C>T Copied from the Exome Variant Server ELF1_000050 1/13006 1/8600 0/4406
?/? c.816C>T r.(=) p.(=) g.41515497G>A Copied from the Exome Variant Server ELF1_000049 5/12976 5/8590 0/4386
?/? c.819A>G r.(=) p.(=) g.41515494T>C Copied from the Exome Variant Server ELF1_000048 1/12988 0/8594 1/4394
?/? c.847C>G r.(?) p.(Gln283Glu) g.41515466G>C Copied from the Exome Variant Server ELF1_000047 1/13004 1/8600 0/4404
?/? c.886C>G r.(?) p.(Leu296Val) g.41515427G>C Copied from the Exome Variant Server ELF1_000046 3/13006 3/8600 0/4406
?/? c.913A>G r.(?) p.(Ser305Gly) g.41515400T>C Copied from the Exome Variant Server ELF1_000045 1/13006 1/8600 0/4406
?/? c.942G>A r.(=) p.(=) g.41515371C>T Copied from the Exome Variant Server ELF1_000044 2459/13006 1486/8600 973/4406
?/? c.945A>C r.(=) p.(=) g.41515368T>G Copied from the Exome Variant Server ELF1_000043 10/13006 0/8600 10/4406
?/? c.959C>T r.(?) p.(Thr320Ile) g.41515354G>A Copied from the Exome Variant Server ELF1_000042 1/13006 1/8600 0/4406
?/? c.968G>C r.(?) p.(Arg323Thr) g.41515345C>G Copied from the Exome Variant Server ELF1_000041 2/13006 0/8600 2/4406
?/? c.983G>A r.(?) p.(Arg328Gln) g.41515330C>T Copied from the Exome Variant Server ELF1_000040 1/13006 1/8600 0/4406
?/? c.989G>A r.(?) p.(Arg330Lys) g.41515324C>T Copied from the Exome Variant Server ELF1_000039 3/13006 2/8600 1/4406
?/? c.1013A>G r.(?) p.(Lys338Arg) g.41515300T>C Copied from the Exome Variant Server ELF1_000038 1/13006 1/8600 0/4406
?/? c.1027A>T r.(?) p.(Thr343Ser) g.41515286T>A Copied from the Exome Variant Server ELF1_000037 6806/13006 5834/8600 972/4406
?/? c.1048T>G r.(?) p.(Ser350Ala) g.41515265A>C Copied from the Exome Variant Server ELF1_000036 53/13006 46/8600 7/4406
?/? c.1057G>C r.(?) p.(Ala353Pro) g.41515256C>G Copied from the Exome Variant Server ELF1_000035 1/13006 0/8600 1/4406
?/? c.1092A>T r.(=) p.(=) g.41515221T>A Copied from the Exome Variant Server ELF1_000034 90/13006 80/8600 10/4406
?/? c.1131A>G r.(=) p.(=) g.41515182T>C Copied from the Exome Variant Server ELF1_000033 9/13006 6/8600 3/4406
?/? c.1136C>T r.(?) p.(Pro379Leu) g.41515177G>A Copied from the Exome Variant Server ELF1_000032 1/13006 1/8600 0/4406
?/? c.1146C>T r.(=) p.(=) g.41515167G>A Copied from the Exome Variant Server ELF1_000031 1/13006 1/8600 0/4406
?/? c.1150C>T r.(?) p.(Arg384Trp) g.41515163G>A Copied from the Exome Variant Server ELF1_000030 1/13006 1/8600 0/4406
?/? c.1151G>A r.(?) p.(Arg384Gln) g.41515162C>T Copied from the Exome Variant Server ELF1_000029 13/13006 12/8600 1/4406
?/? c.1162G>A r.(?) p.(Val388Ile) g.41515151C>T Copied from the Exome Variant Server ELF1_000028 2/13006 2/8600 0/4406
?/? c.1188A>G r.(=) p.(=) g.41515125T>C Copied from the Exome Variant Server ELF1_000027 22/13006 1/8600 21/4406
?/? c.1195G>A r.(?) p.(Glu399Lys) g.41515118C>T Copied from the Exome Variant Server ELF1_000025 178/13006 161/8600 17/4406
?/? c.1208C>T r.(?) p.(Thr403Ile) g.41515105G>A Copied from the Exome Variant Server ELF1_000026 126/13006 2/8600 124/4406
?/? c.1243G>A r.(?) p.(Val415Ile) g.41515070C>T Copied from the Exome Variant Server ELF1_000024 24/13006 1/8600 23/4406
?/? c.1246C>A r.(?) p.(Gln416Lys) g.41515067G>T Copied from the Exome Variant Server ELF1_000023 2/13006 0/8600 2/4406
?/? c.1256+22T>C r.(=) p.(=) g.41515035A>G Copied from the Exome Variant Server ELF1_000022 14/13006 0/8600 14/4406
?/? c.1256+51G>A r.(=) p.(=) g.41515006C>T Copied from the Exome Variant Server ELF1_000021 1/13006 0/8600 1/4406
?/? c.1295C>G r.(?) p.(Ser432Cys) g.41508126G>C Copied from the Exome Variant Server ELF1_000020 1/13006 1/8600 0/4406
?/? c.1318A>C r.(?) p.(Thr440Pro) g.41508103T>G Copied from the Exome Variant Server ELF1_000019 1/13006 1/8600 0/4406
?/? c.1367A>C r.(?) p.(Asp456Ala) g.41508054T>G Copied from the Exome Variant Server ELF1_000018 1/13006 1/8600 0/4406
?/? c.1372T>C r.(?) p.(Ser458Pro) g.41508049A>G Copied from the Exome Variant Server ELF1_000017 14/13006 11/8600 3/4406
?/? c.1387T>A r.(?) p.(Ser463Thr) g.41508034A>T Copied from the Exome Variant Server ELF1_000016 1/13006 1/8600 0/4406
?/? c.1401T>C r.(=) p.(=) g.41508020A>G Copied from the Exome Variant Server ELF1_000015 4/13006 0/8600 4/4406
?/? c.1411A>T r.(?) p.(Ile471Phe) g.41508010T>A Copied from the Exome Variant Server ELF1_000014 1/13006 1/8600 0/4406
?/? c.1414C>A r.(?) p.(Pro472Thr) g.41508007G>T Copied from the Exome Variant Server ELF1_000013 1/13006 0/8600 1/4406
?/? c.1428C>T r.(=) p.(=) g.41507993G>A Copied from the Exome Variant Server ELF1_000012 1/13006 1/8600 0/4406
?/? c.1455G>A r.(?) p.(Met485Ile) g.41507966C>T Copied from the Exome Variant Server ELF1_000011 2/13006 0/8600 2/4406
?/? c.1475G>A r.(?) p.(Gly492Asp) g.41507946C>T Copied from the Exome Variant Server ELF1_000010 1/13006 0/8600 1/4406
?/? c.1478C>G r.(?) p.(Ser493Cys) g.41507943G>C Copied from the Exome Variant Server ELF1_000009 2/13006 0/8600 2/4406
?/? c.1601T>C r.(?) p.(Val534Ala) g.41507820A>G Copied from the Exome Variant Server ELF1_000008 1/13006 0/8600 1/4406
?/? c.1652C>T r.(?) p.(Thr551Ile) g.41507769G>A Copied from the Exome Variant Server ELF1_000007 3/13006 3/8600 0/4406
?/? c.1690A>G r.(?) p.(Thr564Ala) g.41507731T>C Copied from the Exome Variant Server ELF1_000006 1/13006 0/8600 1/4406
?/? c.1743C>T r.(=) p.(=) g.41507678G>A Copied from the Exome Variant Server ELF1_000005 4/13006 0/8600 4/4406
?/? c.1766C>T r.(?) p.(Pro589Leu) g.41507655G>A Copied from the Exome Variant Server ELF1_000004 1/13006 1/8600 0/4406
?/? c.1834G>A r.(?) p.(Glu612Lys) g.41507587C>T Copied from the Exome Variant Server ELF1_000003 1/13006 0/8600 1/4406
?/? c.1842G>A r.(=) p.(=) g.41507579C>T Copied from the Exome Variant Server ELF1_000002 92/13006 1/8600 91/4406
?/? c.1843del r.(?) p.(Glu615Asnfs*7) g.41507578del Copied from the Exome Variant Server ELF1_000001 3/12518 1/8254 2/4264
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