All transcript variants in gene TIE1

Information The variants shown are described using the NM_005424.4 transcript reference sequence.

233 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-37C>T r.(=) p.(=) g.43766706C>T Copied from the Exome Variant Server TIE1_000002 90/13006 0/8600 90/4406
?/? c.-31G>A r.(=) p.(=) g.43766712G>A Copied from the Exome Variant Server TIE1_000004 1/13006 1/8600 0/4406
?/? c.11G>A r.(?) p.(Arg4Gln) g.43766753G>A Copied from the Exome Variant Server TIE1_000006 1/13006 0/8600 1/4406
?/? c.58+40C>T r.(=) p.(=) g.43766840C>T Copied from the Exome Variant Server TIE1_000008 3/13006 2/8600 1/4406
?/? c.69G>C r.(=) p.(=) g.43770532G>C Copied from the Exome Variant Server TIE1_000010 1/10826 0/7194 1/3632
?/? c.135T>C r.(=) p.(=) g.43770598T>C Copied from the Exome Variant Server TIE1_000012 12/11602 1/7748 11/3854
?/? c.199G>T r.(?) p.(Asp67Tyr) g.43770662G>T Copied from the Exome Variant Server TIE1_000014 1/12588 0/8334 1/4254
?/? c.211C>T r.(?) p.(Arg71Cys) g.43770674C>T Copied from the Exome Variant Server TIE1_000016 1/12618 1/8344 0/4274
?/? c.229C>T r.(?) p.(Pro77Ser) g.43770692C>T Copied from the Exome Variant Server TIE1_000001 102/12696 0/8386 102/4310
?/? c.234G>A r.(=) p.(=) g.43770697G>A Copied from the Exome Variant Server TIE1_000003 1/12730 1/8418 0/4312
?/? c.250G>T r.(?) p.(Gly84Cys) g.43770713G>T Copied from the Exome Variant Server TIE1_000005 1/12922 0/8550 1/4372
?/? c.257A>T r.(?) p.(His86Leu) g.43770720A>T Copied from the Exome Variant Server TIE1_000007 1/12942 1/8566 0/4376
?/? c.273C>A r.(=) p.(=) g.43770736C>A Copied from the Exome Variant Server TIE1_000009 1/12976 1/8590 0/4386
?/? c.293A>T r.(?) p.(Asp98Val) g.43770756A>T Copied from the Exome Variant Server TIE1_000011 1/12994 1/8596 0/4398
?/? c.337C>T r.(?) p.(Arg113Cys) g.43770800C>T Copied from the Exome Variant Server TIE1_000013 3/13000 0/8596 3/4404
?/? c.351C>G r.(?) p.(Ile117Met) g.43770814C>G Copied from the Exome Variant Server TIE1_000015 2/13002 2/8598 0/4404
?/? c.373+15C>T r.(=) p.(=) g.43770851C>T Copied from the Exome Variant Server TIE1_000017 1/13002 1/8598 0/4404
?/? c.373+28del r.(=) p.(=) g.43770864del Copied from the Exome Variant Server TIE1_000018 1/12520 0/8254 1/4266
?/? c.382C>T r.(?) p.(Leu128Phe) g.43770912C>T Copied from the Exome Variant Server TIE1_000019 1/13006 1/8600 0/4406
?/? c.406G>A r.(?) p.(Val136Met) g.43770936G>A Copied from the Exome Variant Server TIE1_000020 7/13006 7/8600 0/4406
?/? c.484+3del r.spl? p.? g.43771017del Copied from the Exome Variant Server TIE1_000021 8213/12520 5065/8254 3148/4266
?/? c.484+40A>C r.(=) p.(=) g.43771054A>C Copied from the Exome Variant Server TIE1_000022 1/13002 0/8598 1/4404
?/? c.484+46C>T r.(=) p.(=) g.43771060C>T Copied from the Exome Variant Server TIE1_000023 1/12984 0/8584 1/4400
?/? c.485-35A>G r.(=) p.(=) g.43772476A>G Copied from the Exome Variant Server TIE1_000024 3/13006 0/8600 3/4406
?/? c.485-24C>A r.(=) p.(=) g.43772487C>A Copied from the Exome Variant Server TIE1_000025 1/13006 1/8600 0/4406
?/? c.485-23C>G r.(=) p.(=) g.43772488C>G Copied from the Exome Variant Server TIE1_000026 1/13006 0/8600 1/4406
?/? c.485-6C>A r.(=) p.(=) g.43772505C>A Copied from the Exome Variant Server TIE1_000027 2/13006 0/8600 2/4406
?/? c.497A>G r.(?) p.(Tyr166Cys) g.43772523A>G Copied from the Exome Variant Server TIE1_000028 1/13006 0/8600 1/4406
?/? c.519C>T r.(=) p.(=) g.43772545C>T Copied from the Exome Variant Server TIE1_000029 5/13006 5/8600 0/4406
?/? c.524A>T r.(?) p.(Asp175Val) g.43772550A>T Copied from the Exome Variant Server TIE1_000030 7/13006 0/8600 7/4406
?/? c.529C>T r.(?) p.(Arg177Trp) g.43772555C>T Copied from the Exome Variant Server TIE1_000031 1/13006 1/8600 0/4406
?/? c.530G>A r.(?) p.(Arg177Gln) g.43772556G>A Copied from the Exome Variant Server TIE1_000032 1/13006 0/8600 1/4406
?/? c.566C>T r.(?) p.(Ser189Leu) g.43772592C>T Copied from the Exome Variant Server TIE1_000033 1/13006 1/8600 0/4406
?/? c.570C>T r.(=) p.(=) g.43772596C>T Copied from the Exome Variant Server TIE1_000034 1/13006 1/8600 0/4406
?/? c.571G>A r.(?) p.(Gly191Ser) g.43772597G>A Copied from the Exome Variant Server TIE1_000035 3/13006 1/8600 2/4406
?/? c.615C>T r.(=) p.(=) g.43772641C>T Copied from the Exome Variant Server TIE1_000036 1/13006 0/8600 1/4406
?/? c.638G>A r.(?) p.(Arg213Gln) g.43772664G>A Copied from the Exome Variant Server TIE1_000037 1/13006 0/8600 1/4406
?/? c.639G>A r.(=) p.(=) g.43772665G>A Copied from the Exome Variant Server TIE1_000038 85/13006 0/8600 85/4406
?/? c.640+24G>C r.(=) p.(=) g.43772690G>C Copied from the Exome Variant Server TIE1_000039 1/13006 0/8600 1/4406
?/? c.640+33G>A r.(=) p.(=) g.43772699G>A Copied from the Exome Variant Server TIE1_000040 30/13006 1/8600 29/4406
?/? c.640+52A>G r.(=) p.(=) g.43772718A>G Copied from the Exome Variant Server TIE1_000041 1/7266 0/4614 1/2652
?/? c.641-36G>A r.(=) p.(=) g.43772777G>A Copied from the Exome Variant Server TIE1_000042 1/13006 0/8600 1/4406
?/? c.641-26del r.(=) p.(=) g.43772787del Copied from the Exome Variant Server TIE1_000043 5/12520 0/8254 5/4266
?/? c.646G>A r.(?) p.(Gly216Arg) g.43772818G>A Copied from the Exome Variant Server TIE1_000044 24/13006 3/8600 21/4406
?/? c.656G>A r.(?) p.(Arg219His) g.43772828G>A Copied from the Exome Variant Server TIE1_000045 1/13006 1/8600 0/4406
?/? c.662G>A r.(?) p.(Gly221Glu) g.43772834G>A Copied from the Exome Variant Server TIE1_000046 2/13006 0/8600 2/4406
?/? c.705T>C r.(=) p.(=) g.43772877T>C Copied from the Exome Variant Server TIE1_000047 1/13006 0/8600 1/4406
?/? c.714C>T r.(=) p.(=) g.43772886C>T Copied from the Exome Variant Server TIE1_000048 20/13006 19/8600 1/4406
?/? c.733G>A r.(?) p.(Val245Ile) g.43772905G>A Copied from the Exome Variant Server TIE1_000049 3/13006 2/8600 1/4406
?/? c.741C>G r.(=) p.(=) g.43772913C>G Copied from the Exome Variant Server TIE1_000050 1/13006 0/8600 1/4406
?/? c.744del r.(?) p.(Gly249Alafs*116) g.43772916del Copied from the Exome Variant Server TIE1_000051 2/12520 1/8254 1/4266
?/? c.772+6G>T r.(=) p.(=) g.43772950G>T Copied from the Exome Variant Server TIE1_000052 1/13006 1/8600 0/4406
?/? c.772+11G>A r.(=) p.(=) g.43772955G>A Copied from the Exome Variant Server TIE1_000053 11/13006 9/8600 2/4406
?/? c.772+21G>A r.(=) p.(=) g.43772965G>A Copied from the Exome Variant Server TIE1_000054 1/13006 1/8600 0/4406
?/? c.772+50G>C r.(=) p.(=) g.43772994G>C Copied from the Exome Variant Server TIE1_000055 1/13004 1/8598 0/4406
?/? c.773-40G>A r.(=) p.(=) g.43773063G>A Copied from the Exome Variant Server TIE1_000056 64/12950 0/8578 64/4372
?/? c.773-35C>T r.(=) p.(=) g.43773068C>T Copied from the Exome Variant Server TIE1_000057 9/12946 0/8580 9/4366
?/? c.773-31G>A r.(=) p.(=) g.43773072G>A Copied from the Exome Variant Server TIE1_000058 1/12952 1/8580 0/4372
?/? c.773-29C>T r.(=) p.(=) g.43773074C>T Copied from the Exome Variant Server TIE1_000059 1/12954 0/8578 1/4376
?/? c.813G>C r.(?) p.(Gln271His) g.43773143G>C Copied from the Exome Variant Server TIE1_000060 5/13006 0/8600 5/4406
?/? c.836G>A r.(?) p.(Arg279Gln) g.43773166G>A Copied from the Exome Variant Server TIE1_000061 1/13006 1/8600 0/4406
?/? c.861C>A r.(?) p.(Asp287Glu) g.43773191C>A Copied from the Exome Variant Server TIE1_000062 1/13006 1/8600 0/4406
?/? c.913+7C>T r.(=) p.(=) g.43773250C>T Copied from the Exome Variant Server TIE1_000063 10/13006 9/8600 1/4406
?/? c.914-40_914-39del r.(=) p.(=) g.43773427_43773428del Copied from the Exome Variant Server TIE1_000064 1/12520 1/8254 0/4266
?/? c.914-38G>A r.(=) p.(=) g.43773429G>A Copied from the Exome Variant Server TIE1_000065 1/13006 1/8600 0/4406
?/? c.914-12C>T r.(=) p.(=) g.43773455C>T Copied from the Exome Variant Server TIE1_000066 1/13006 1/8600 0/4406
?/? c.971G>A r.(?) p.(Gly324Asp) g.43773524G>A Copied from the Exome Variant Server TIE1_000067 1/13006 1/8600 0/4406
?/? c.986G>A r.(?) p.(Arg329Gln) g.43773539G>A Copied from the Exome Variant Server TIE1_000068 1/13006 0/8600 1/4406
?/? c.1042+1G>A r.spl? p.? g.43773596G>A Copied from the Exome Variant Server TIE1_000069 1/13006 0/8600 1/4406
?/? c.1042+12A>G r.(=) p.(=) g.43773607A>G Copied from the Exome Variant Server TIE1_000070 1/13006 1/8600 0/4406
?/? c.1042+33A>G r.(=) p.(=) g.43773628A>G Copied from the Exome Variant Server TIE1_000071 1/13006 1/8600 0/4406
?/? c.1043-27T>A r.(=) p.(=) g.43774630T>A Copied from the Exome Variant Server TIE1_000072 3/13006 0/8600 3/4406
?/? c.1043-17G>A r.(=) p.(=) g.43774640G>A Copied from the Exome Variant Server TIE1_000073 1/13006 0/8600 1/4406
?/? c.1043-7T>A r.(=) p.(=) g.43774650T>A Copied from the Exome Variant Server TIE1_000075 1/13006 1/8600 0/4406
?/? c.1043-5C>G r.spl? p.? g.43774652C>G Copied from the Exome Variant Server TIE1_000077 1/13006 1/8600 0/4406
?/? c.1049del r.(?) p.(Ile350Thrfs*15) g.43774663del Copied from the Exome Variant Server TIE1_000079 1/12520 0/8254 1/4266
?/? c.1065C>T r.(=) p.(=) g.43774679C>T Copied from the Exome Variant Server TIE1_000082 1/13006 0/8600 1/4406
?/? c.1086C>G r.(?) p.(Phe362Leu) g.43774700C>G Copied from the Exome Variant Server TIE1_000084 1/13006 1/8600 0/4406
?/? c.1106G>A r.(?) p.(Arg369Gln) g.43774720G>A Copied from the Exome Variant Server TIE1_000086 1/13006 1/8600 0/4406
?/? c.1162C>T r.(?) p.(Arg388Cys) g.43774776C>T Copied from the Exome Variant Server TIE1_000088 1/13006 1/8600 0/4406
?/? c.1188+12A>G r.(=) p.(=) g.43774814A>G Copied from the Exome Variant Server TIE1_000090 1/13006 0/8600 1/4406
?/? c.1188+17C>T r.(=) p.(=) g.43774819C>T Copied from the Exome Variant Server TIE1_000092 1/13006 0/8600 1/4406
?/? c.1188+33C>T r.(=) p.(=) g.43774835C>T Copied from the Exome Variant Server TIE1_000093 1/13004 0/8598 1/4406
?/? c.1233C>T r.(=) p.(=) g.43775103C>T Copied from the Exome Variant Server TIE1_000074 2/13006 2/8600 0/4406
?/? c.1244G>T r.(?) p.(Arg415Leu) g.43775114G>T Copied from the Exome Variant Server TIE1_000076 53/13006 0/8600 53/4406
?/? c.1256C>T r.(?) p.(Ala419Val) g.43775126C>T Copied from the Exome Variant Server TIE1_000078 2/13006 1/8600 1/4406
?/? c.1272G>A r.(?) p.(Trp424*) g.43775142G>A Copied from the Exome Variant Server TIE1_000080 2/13006 1/8600 1/4406
?/? c.1279C>T r.(?) p.(Arg427Cys) g.43775149C>T Copied from the Exome Variant Server TIE1_000081 2/13006 2/8600 0/4406
?/? c.1333+33C>T r.(=) p.(=) g.43775236C>T Copied from the Exome Variant Server TIE1_000083 1/13006 1/8600 0/4406
?/? c.1333+51C>G r.(=) p.(=) g.43775254C>G Copied from the Exome Variant Server TIE1_000085 1/13006 0/8600 1/4406
?/? c.1334-34G>C r.(=) p.(=) g.43777308G>C Copied from the Exome Variant Server TIE1_000087 2/13004 0/8598 2/4406
?/? c.1334-31T>C r.(=) p.(=) g.43777311T>C Copied from the Exome Variant Server TIE1_000089 2/13004 0/8598 2/4406
?/? c.1342G>A r.(?) p.(Val448Met) g.43777350G>A Copied from the Exome Variant Server TIE1_000091 10/13006 9/8600 1/4406
?/? c.1347C>G r.(=) p.(=) g.43777355C>G Copied from the Exome Variant Server TIE1_000094 2/13006 1/8600 1/4406
?/? c.1378A>C r.(?) p.(Ser460Arg) g.43777386A>C Copied from the Exome Variant Server TIE1_000095 1/13006 1/8600 0/4406
?/? c.1392G>C r.(=) p.(=) g.43777400G>C Copied from the Exome Variant Server TIE1_000096 53/13006 0/8600 53/4406
?/? c.1400C>T r.(?) p.(Pro467Leu) g.43777408C>T Copied from the Exome Variant Server TIE1_000097 1/13006 1/8600 0/4406
?/? c.1409C>T r.(?) p.(Ser470Leu) g.43777417C>T Copied from the Exome Variant Server TIE1_000098 4/13006 4/8600 0/4406
?/? c.1441C>T r.(?) p.(Arg481Cys) g.43777449C>T Copied from the Exome Variant Server TIE1_000099 1/13006 1/8600 0/4406
?/? c.1482G>A r.(=) p.(=) g.43777490G>A Copied from the Exome Variant Server TIE1_000100 2/13006 0/8600 2/4406
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