Unique variants in gene DMTF1

Information The variants shown are described using the NM_021145.3 transcript reference sequence.

129 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-8-30A>T r.(=) p.(=) g.86794220A>T Copied from the Exome Variant Server DMTF1_000001 253/13004 1/8598 252/4406
1 c.-8-12G>C r.(=) p.(=) g.86794238G>C Copied from the Exome Variant Server DMTF1_000002 1/13006 1/8600 0/4406
1 c.67C>G r.(?) p.(Gln23Glu) g.86794324C>G Copied from the Exome Variant Server DMTF1_000003 1/13006 1/8600 0/4406
1 c.72C>T r.(=) p.(=) g.86794329C>T Copied from the Exome Variant Server DMTF1_000004 2/13006 2/8600 0/4406
1 c.96C>T r.(=) p.(=) g.86794353C>T Copied from the Exome Variant Server DMTF1_000005 54/13006 2/8600 52/4406
1 c.109+21A>G r.(=) p.(=) g.86794387A>G Copied from the Exome Variant Server DMTF1_000006 2/13004 1/8598 1/4406
1 c.109+27C>G r.(=) p.(=) g.86794393C>G Copied from the Exome Variant Server DMTF1_000007 49/13004 40/8598 9/4406
1 c.109+31_109+32del r.(=) p.(=) g.86794397_86794398del Copied from the Exome Variant Server DMTF1_000008 2/12512 1/8250 1/4262
1 c.109+32T>A r.(=) p.(=) g.86794398T>A Copied from the Exome Variant Server DMTF1_000009 1/13004 0/8598 1/4406
1 c.110-45C>T r.(=) p.(=) g.86795754C>T Copied from the Exome Variant Server DMTF1_000010 71/13002 68/8596 3/4406
1 c.110-26_110-23del r.(=) p.(=) g.86795773_86795776del Copied from the Exome Variant Server DMTF1_000011 2/12518 1/8254 1/4264
1 c.113C>T r.(?) p.(Ala38Val) g.86795802C>T Copied from the Exome Variant Server DMTF1_000012 6/13006 5/8600 1/4406
1 c.126C>T r.(=) p.(=) g.86795815C>T Copied from the Exome Variant Server DMTF1_000013 1/13006 0/8600 1/4406
1 c.150A>G r.(=) p.(=) g.86795839A>G Copied from the Exome Variant Server DMTF1_000014 1/13004 1/8600 0/4404
1 c.232C>T r.(?) p.(Leu78Phe) g.86795921C>T Copied from the Exome Variant Server DMTF1_000015 3/13006 2/8600 1/4406
1 c.232+1G>A r.spl? p.? g.86795922G>A Copied from the Exome Variant Server DMTF1_000016 1/13006 1/8600 0/4406
1 c.232+7C>T r.(=) p.(=) g.86795928C>T Copied from the Exome Variant Server DMTF1_000017 3/13006 3/8600 0/4406
1 c.232+12C>T r.(=) p.(=) g.86795933C>T Copied from the Exome Variant Server DMTF1_000018 1/13006 1/8600 0/4406
1 c.232+13G>A r.(=) p.(=) g.86795934G>A Copied from the Exome Variant Server DMTF1_000019 1/13006 0/8600 1/4406
1 c.232+20G>A r.(=) p.(=) g.86795941G>A Copied from the Exome Variant Server DMTF1_000020 1/13006 1/8600 0/4406
1 c.232+27del r.(=) p.(=) g.86795948del Copied from the Exome Variant Server DMTF1_000021 1/12518 0/8254 1/4264
1 c.232+27_232+28del r.(=) p.(=) g.86795948_86795949del Copied from the Exome Variant Server DMTF1_000022 8643/12518 6350/8254 2293/4264
1 c.233-38G>A r.(=) p.(=) g.86800273G>A Copied from the Exome Variant Server DMTF1_000023 1/13006 1/8600 0/4406
1 c.235T>G r.(?) p.(Ser79Ala) g.86800313T>G Copied from the Exome Variant Server DMTF1_000024 1/13006 1/8600 0/4406
1 c.246T>G r.(?) p.(Asp82Glu) g.86800324T>G Copied from the Exome Variant Server DMTF1_000025 54/13006 2/8600 52/4406
1 c.273A>G r.(=) p.(=) g.86800351A>G Copied from the Exome Variant Server DMTF1_000026 11028/13006 7427/8600 3601/4406
1 c.286G>C r.(?) p.(Ala96Pro) g.86800364G>C Copied from the Exome Variant Server DMTF1_000027 150/13006 134/8600 16/4406
1 c.295G>C r.(?) p.(Glu99Gln) g.86800373G>C Copied from the Exome Variant Server DMTF1_000028 1/13006 0/8600 1/4406
1 c.327+5A>G r.spl? p.? g.86800410A>G Copied from the Exome Variant Server DMTF1_000029 4/13006 2/8600 2/4406
1 c.327+24C>T r.(=) p.(=) g.86800429C>T Copied from the Exome Variant Server DMTF1_000030 1/13006 0/8600 1/4406
1 c.327+35G>T r.(=) p.(=) g.86800440G>T Copied from the Exome Variant Server DMTF1_000031 345/13006 313/8600 32/4406
1 c.327+42T>C r.(=) p.(=) g.86800447T>C Copied from the Exome Variant Server DMTF1_000032 1/13006 0/8600 1/4406
1 c.328-47_328-46insTTTTG r.(=) p.(=) g.86802804_86802805insTTTTG Copied from the Exome Variant Server DMTF1_000033 303/12500 235/8242 68/4258
1 c.328-17A>G r.(=) p.(=) g.86802834A>G Copied from the Exome Variant Server DMTF1_000034 2/13004 0/8600 2/4404
1 c.337A>G r.(?) p.(Asn113Asp) g.86802860A>G Copied from the Exome Variant Server DMTF1_000035 1/13006 1/8600 0/4406
1 c.348A>C r.(=) p.(=) g.86802871A>C Copied from the Exome Variant Server DMTF1_000036 1/13006 1/8600 0/4406
1 c.351T>C r.(=) p.(=) g.86802874T>C Copied from the Exome Variant Server DMTF1_000037 1/13006 1/8600 0/4406
1 c.372C>T r.(=) p.(=) g.86802895C>T Copied from the Exome Variant Server DMTF1_000038 1/13006 1/8600 0/4406
1 c.373G>A r.(?) p.(Glu125Lys) g.86802896G>A Copied from the Exome Variant Server DMTF1_000039 1/13006 1/8600 0/4406
1 c.374A>G r.(?) p.(Glu125Gly) g.86802897A>G Copied from the Exome Variant Server DMTF1_000040 1/13006 0/8600 1/4406
1 c.442+25T>C r.(=) p.(=) g.86802990T>C Copied from the Exome Variant Server DMTF1_000041 1/13006 0/8600 1/4406
1 c.442+42T>C r.(=) p.(=) g.86803007T>C Copied from the Exome Variant Server DMTF1_000042 1/13002 0/8596 1/4406
1 c.519+9_519+10insG r.(=) p.(=) g.86803994_86803995insG Copied from the Exome Variant Server DMTF1_000043 608/12504 520/8240 88/4264
1 c.519+47A>G r.(=) p.(=) g.86804032A>G Copied from the Exome Variant Server DMTF1_000044 4/12992 3/8586 1/4406
1 c.523C>T r.(?) p.(Arg175Cys) g.86808864C>T Copied from the Exome Variant Server DMTF1_000045 1/13006 1/8600 0/4406
1 c.524G>A r.(?) p.(Arg175His) g.86808865G>A Copied from the Exome Variant Server DMTF1_000046 7/13006 0/8600 7/4406
1 c.533A>G r.(?) p.(Lys178Arg) g.86808874A>G Copied from the Exome Variant Server DMTF1_000048 1/13006 0/8600 1/4406
1 c.678-40T>C r.(=) p.(=) g.86810585T>C Copied from the Exome Variant Server DMTF1_000050 1/12836 0/8526 1/4310
1 c.710+8T>G r.(=) p.(=) g.86810665T>G Copied from the Exome Variant Server DMTF1_000052 1/12966 0/8574 1/4392
1 c.710+32_710+33insT r.(=) p.(=) g.86810689_86810690insT Copied from the Exome Variant Server DMTF1_000054 3/12458 2/8216 1/4242
1 c.710+48G>A r.(=) p.(=) g.86810705G>A Copied from the Exome Variant Server DMTF1_000047 1/12906 0/8536 1/4370
1 c.711-34G>A r.(=) p.(=) g.86811510G>A Copied from the Exome Variant Server DMTF1_000049 1/13006 1/8600 0/4406
1 c.711-19T>G r.(=) p.(=) g.86811525T>G Copied from the Exome Variant Server DMTF1_000051 615/13006 521/8600 94/4406
1 c.711-10C>T r.(=) p.(=) g.86811534C>T Copied from the Exome Variant Server DMTF1_000053 1/13006 1/8600 0/4406
1 c.726T>C r.(=) p.(=) g.86811559T>C Copied from the Exome Variant Server DMTF1_000055 1/13006 0/8600 1/4406
1 c.920C>T r.(?) p.(Ala307Val) g.86813812C>T Copied from the Exome Variant Server DMTF1_000056 1/13006 1/8600 0/4406
1 c.939C>G r.(=) p.(=) g.86813831C>G Copied from the Exome Variant Server DMTF1_000057 463/13006 249/8600 214/4406
1 c.940G>C r.(?) p.(Gly314Arg) g.86813832G>C Copied from the Exome Variant Server DMTF1_000058 1/13006 1/8600 0/4406
1 c.1018A>T r.(?) p.(Thr340Ser) g.86813910A>T Copied from the Exome Variant Server DMTF1_000059 1/13006 1/8600 0/4406
1 c.1049+33A>C r.(=) p.(=) g.86813974A>C Copied from the Exome Variant Server DMTF1_000060 459/13006 246/8600 213/4406
1 c.1049+35C>T r.(=) p.(=) g.86813976C>T Copied from the Exome Variant Server DMTF1_000061 1/13006 1/8600 0/4406
1 c.1167G>A r.(=) p.(=) g.86815262G>A Copied from the Exome Variant Server DMTF1_000062 1/13006 0/8600 1/4406
1 c.1193C>T r.(?) p.(Ser398Leu) g.86815288C>T Copied from the Exome Variant Server DMTF1_000063 1/13006 1/8600 0/4406
1 c.1201+12C>A r.(=) p.(=) g.86815308C>A Copied from the Exome Variant Server DMTF1_000064 1/13006 1/8600 0/4406
1 c.1201+44A>G r.(=) p.(=) g.86815340A>G Copied from the Exome Variant Server DMTF1_000065 2/13006 1/8600 1/4406
1 c.1201+47T>C r.(=) p.(=) g.86815343T>C Copied from the Exome Variant Server DMTF1_000066 1/13006 0/8600 1/4406
1 c.1201+53del r.(=) p.(=) g.86815349del Copied from the Exome Variant Server DMTF1_000067 1/12518 1/8254 0/4264
1 c.1202-41C>T r.(=) p.(=) g.86817367C>T Copied from the Exome Variant Server DMTF1_000068 3/13004 1/8600 2/4404
1 c.1202-40G>A r.(=) p.(=) g.86817368G>A Copied from the Exome Variant Server DMTF1_000069 1/13004 0/8600 1/4404
1 c.1202-36A>T r.(=) p.(=) g.86817372A>T Copied from the Exome Variant Server DMTF1_000070 1/13006 0/8600 1/4406
1 c.1202-33C>T r.(=) p.(=) g.86817375C>T Copied from the Exome Variant Server DMTF1_000071 1/13006 0/8600 1/4406
1 c.1242A>C r.(?) p.(Lys414Asn) g.86817448A>C Copied from the Exome Variant Server DMTF1_000072 1/13006 0/8600 1/4406
1 c.1253C>T r.(?) p.(Thr418Met) g.86817459C>T Copied from the Exome Variant Server DMTF1_000073 79/13006 0/8600 79/4406
1 c.1261G>A r.(?) p.(Glu421Lys) g.86817467G>A Copied from the Exome Variant Server DMTF1_000074 1/13006 1/8600 0/4406
1 c.1265A>G r.(?) p.(Asn422Ser) g.86817471A>G Copied from the Exome Variant Server DMTF1_000075 1/13006 1/8600 0/4406
1 c.1317T>C r.(=) p.(=) g.86817523T>C Copied from the Exome Variant Server DMTF1_000076 1/13006 0/8600 1/4406
1 c.1330_1332del r.(?) p.(Val444del) g.86817536_86817538del Copied from the Exome Variant Server DMTF1_000077 34/12518 24/8254 10/4264
1 c.1333G>T r.(?) p.(Ala445Ser) g.86817539G>T Copied from the Exome Variant Server DMTF1_000078 12/13006 0/8600 12/4406
1 c.1360_1362del r.(?) p.(Ser456del) g.86817566_86817568del Copied from the Exome Variant Server DMTF1_000079 3/12518 0/8254 3/4264
1 c.1411+16T>G r.(=) p.(=) g.86817633T>G Copied from the Exome Variant Server DMTF1_000080 97/13006 0/8600 97/4406
1 c.1412-43T>C r.(=) p.(=) g.86820218T>C Copied from the Exome Variant Server DMTF1_000081 4/13006 0/8600 4/4406
1 c.1412-33T>C r.(=) p.(=) g.86820228T>C Copied from the Exome Variant Server DMTF1_000082 1/13006 0/8600 1/4406
1 c.1412-4A>G r.spl? p.? g.86820257A>G Copied from the Exome Variant Server DMTF1_000083 1/13006 1/8600 0/4406
1 c.1426C>T r.(?) p.(Pro476Ser) g.86820275C>T Copied from the Exome Variant Server DMTF1_000084 24/13006 2/8600 22/4406
1 c.1448C>A r.(?) p.(Thr483Lys) g.86820297C>A Copied from the Exome Variant Server DMTF1_000085 2/13006 2/8600 0/4406
1 c.1494C>T r.(=) p.(=) g.86820343C>T Copied from the Exome Variant Server DMTF1_000086 1/13006 1/8600 0/4406
1 c.1494+22T>C r.(=) p.(=) g.86820365T>C Copied from the Exome Variant Server DMTF1_000087 1/13004 1/8600 0/4404
1 c.1494+55C>G r.(=) p.(=) g.86820398C>G Copied from the Exome Variant Server DMTF1_000088 175/4566 107/3182 68/1384
1 c.1495-50T>C r.(=) p.(=) g.86822464T>C Copied from the Exome Variant Server DMTF1_000089 24/13006 0/8600 24/4406
1 c.1495-49A>G r.(=) p.(=) g.86822465A>G Copied from the Exome Variant Server DMTF1_000090 1/13006 0/8600 1/4406
1 c.1495-35A>T r.(=) p.(=) g.86822479A>T Copied from the Exome Variant Server DMTF1_000091 1/13006 0/8600 1/4406
1 c.1495-23A>G r.(=) p.(=) g.86822491A>G Copied from the Exome Variant Server DMTF1_000092 4/13006 4/8600 0/4406
1 c.1495-20A>C r.(=) p.(=) g.86822494A>C Copied from the Exome Variant Server DMTF1_000093 1/13006 0/8600 1/4406
1 c.1543A>T r.(?) p.(Thr515Ser) g.86822562A>T Copied from the Exome Variant Server DMTF1_000094 1/13006 1/8600 0/4406
1 c.1571C>T r.(?) p.(Thr524Ile) g.86822590C>T Copied from the Exome Variant Server DMTF1_000095 1/13006 1/8600 0/4406
1 c.1621C>G r.(?) p.(Pro541Ala) g.86822640C>G Copied from the Exome Variant Server DMTF1_000096 1/13006 1/8600 0/4406
1 c.1623T>C r.(=) p.(=) g.86822642T>C Copied from the Exome Variant Server DMTF1_000098 1/13006 1/8600 0/4406
1 c.1650C>T r.(=) p.(=) g.86822669C>T Copied from the Exome Variant Server DMTF1_000100 2/13006 1/8600 1/4406
1 c.1651-27T>C r.(=) p.(=) g.86823014T>C Copied from the Exome Variant Server DMTF1_000102 1/12992 1/8586 0/4406
1 c.1651-7T>C r.(=) p.(=) g.86823034T>C Copied from the Exome Variant Server DMTF1_000104 1/13000 1/8594 0/4406
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