Full data view for gene EDEM1

Information The variants shown are described using the NM_014674.2 transcript reference sequence.

122 entries on 2 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-32T>C r.(=) p.(=) g.5229459T>C Copied from the Exome Variant Server EDEM1_000007 4/12682 0/8424 4/4258 - - - - - - -
?/? c.4C>T r.(?) p.(Gln2*) g.5229494C>T Copied from the Exome Variant Server EDEM1_000009 1/12990 1/8596 0/4394 - - - - - - -
?/? c.9G>C r.(?) p.(Trp3Cys) g.5229499G>C Copied from the Exome Variant Server EDEM1_000011 3/12982 3/8594 0/4388 - - - - - - -
?/? c.34C>T r.(?) p.(Leu12Phe) g.5229524C>T Copied from the Exome Variant Server EDEM1_000013 1/12990 1/8594 0/4396 - - - - - - -
?/? c.51C>T r.(=) p.(=) g.5229541C>T Copied from the Exome Variant Server EDEM1_000015 1/12994 1/8594 0/4400 - - - - - - -
?/? c.58G>A r.(?) p.(Val20Ile) g.5229548G>A Copied from the Exome Variant Server EDEM1_000017 1/12996 1/8594 0/4402 - - - - - - -
?/? c.67C>T r.(?) p.(Leu23Phe) g.5229557C>T Copied from the Exome Variant Server EDEM1_000019 1/12998 0/8596 1/4402 - - - - - - -
?/? c.117C>G r.(=) p.(=) g.5229607C>G Copied from the Exome Variant Server EDEM1_000021 3/12944 0/8578 3/4366 - - - - - - -
?/? c.153C>T r.(=) p.(=) g.5229643C>T Copied from the Exome Variant Server EDEM1_000001 245/11678 227/7858 18/3820 - - - - - - -
?/? c.315C>A r.(=) p.(=) g.5229805C>A Copied from the Exome Variant Server EDEM1_000002 1/11754 0/7804 1/3950 - - - - - - -
?/? c.320G>A r.(?) p.(Arg107Gln) g.5229810G>A Copied from the Exome Variant Server EDEM1_000003 1/12094 1/8018 0/4076 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.5229847C>T Copied from the Exome Variant Server EDEM1_000004 1/12872 1/8524 0/4348 - - - - - - -
?/? c.370C>G r.(?) p.(Pro124Ala) g.5229860C>G Copied from the Exome Variant Server EDEM1_000005 5/12916 4/8556 1/4360 - - - - - - -
?/? c.376C>T r.(=) p.(=) g.5229866C>T Copied from the Exome Variant Server EDEM1_000006 2/12944 2/8570 0/4374 - - - - - - -
?/? c.394G>A r.(?) p.(Asp132Asn) g.5229884G>A Copied from the Exome Variant Server EDEM1_000008 4/12966 0/8584 4/4382 - - - - - - -
?/? c.425_427del r.(?) p.(Asp143del) g.5229915_5229917del Copied from the Exome Variant Server EDEM1_000010 6/12472 4/8234 2/4238 - - - - - - -
?/? c.460G>A r.(?) p.(Glu154Lys) g.5229950G>A Copied from the Exome Variant Server EDEM1_000012 2/12926 2/8562 0/4364 - - - - - - -
?/? c.487C>T r.(?) p.(Arg163Cys) g.5229977C>T Copied from the Exome Variant Server EDEM1_000014 3/12660 0/8428 3/4232 - - - - - - -
?/? c.495C>T r.(=) p.(=) g.5229985C>T Copied from the Exome Variant Server EDEM1_000016 1/12492 0/8348 1/4144 - - - - - - -
?/? c.501C>T r.(=) p.(=) g.5229991C>T Copied from the Exome Variant Server EDEM1_000018 22/12072 0/8150 22/3922 - - - - - - -
?/? c.523A>G r.(?) p.(Ile175Val) g.5236907A>G Copied from the Exome Variant Server EDEM1_000020 2/13004 2/8598 0/4406 - - - - - - -
?/? c.582+4A>G r.spl? p.? g.5236970A>G Copied from the Exome Variant Server EDEM1_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.582+20T>A r.(=) p.(=) g.5236986T>A Copied from the Exome Variant Server EDEM1_000023 144/13002 1/8596 143/4406 - - - - - - -
?/? c.582+24_582+25insG r.(=) p.(=) g.5236990_5236991insG Copied from the Exome Variant Server EDEM1_000024 33/12516 0/8250 33/4266 - - - - - - -
?/? c.582+46A>C r.(=) p.(=) g.5237012A>C Copied from the Exome Variant Server EDEM1_000025 4/13000 0/8598 4/4402 - - - - - - -
?/? c.583-13C>G r.(=) p.(=) g.5241264C>G Copied from the Exome Variant Server EDEM1_000026 3/13006 0/8600 3/4406 - - - - - - -
?/? c.583-10C>A r.(=) p.(=) g.5241267C>A Copied from the Exome Variant Server EDEM1_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.615C>A r.(=) p.(=) g.5241309C>A Copied from the Exome Variant Server EDEM1_000028 12279/13006 8390/8600 3889/4406 - - - - - - -
?/? c.660C>T r.(=) p.(=) g.5241354C>T Copied from the Exome Variant Server EDEM1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.661G>A r.(?) p.(Val221Ile) g.5241355G>A Copied from the Exome Variant Server EDEM1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.680C>T r.(?) p.(Thr227Met) g.5241374C>T Copied from the Exome Variant Server EDEM1_000031 2/13006 2/8600 0/4406 - - - - - - -
?/? c.686+25T>G r.(=) p.(=) g.5241405T>G Copied from the Exome Variant Server EDEM1_000032 8/13004 0/8600 8/4404 - - - - - - -
?/? c.686+26G>C r.(=) p.(=) g.5241406G>C Copied from the Exome Variant Server EDEM1_000033 1/13004 1/8600 0/4404 - - - - - - -
?/? c.687-32T>C r.(=) p.(=) g.5243406T>C Copied from the Exome Variant Server EDEM1_000034 29/13006 0/8600 29/4406 - - - - - - -
?/? c.687-22T>G r.(=) p.(=) g.5243416T>G Copied from the Exome Variant Server EDEM1_000035 3/13006 0/8600 3/4406 - - - - - - -
?/? c.739C>A r.(?) p.(Pro247Thr) g.5243490C>A Copied from the Exome Variant Server EDEM1_000036 8/13006 7/8600 1/4406 - - - - - - -
?/? c.795T>C r.(=) p.(=) g.5243546T>C Copied from the Exome Variant Server EDEM1_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.804G>A r.(=) p.(=) g.5243555G>A Copied from the Exome Variant Server EDEM1_000038 171/13006 0/8600 171/4406 - - - - - - -
?/? c.820G>A r.(?) p.(Ala274Thr) g.5243571G>A Copied from the Exome Variant Server EDEM1_000039 5/13006 4/8600 1/4406 - - - - - - -
?/? c.858G>T r.(=) p.(=) g.5243609G>T Copied from the Exome Variant Server EDEM1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.858+33C>A r.(=) p.(=) g.5243642C>A Copied from the Exome Variant Server EDEM1_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.886G>A r.(?) p.(Asp296Asn) g.5244678G>A Copied from the Exome Variant Server EDEM1_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.903A>G r.(=) p.(=) g.5244695A>G Copied from the Exome Variant Server EDEM1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.918C>T r.(=) p.(=) g.5244710C>T Copied from the Exome Variant Server EDEM1_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.952C>T r.(?) p.(Arg318*) g.5244744C>T Copied from the Exome Variant Server EDEM1_000045 2/13006 1/8600 1/4406 - - - - - - -
?/? c.960del r.(?) p.(Asp322Thrfs*12) g.5244752del Copied from the Exome Variant Server EDEM1_000046 65/12520 43/8254 22/4266 - - - - - - -
?/? c.964G>A r.(?) p.(Asp322Asn) g.5244756G>A Copied from the Exome Variant Server EDEM1_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.990A>G r.(=) p.(=) g.5244782A>G Copied from the Exome Variant Server EDEM1_000049 14/13006 0/8600 14/4406 - - - - - - -
?/? c.1042+9C>T r.(=) p.(=) g.5244843C>T Copied from the Exome Variant Server EDEM1_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1042+19C>T r.(=) p.(=) g.5244853C>T Copied from the Exome Variant Server EDEM1_000053 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1042+21A>G r.(=) p.(=) g.5244855A>G Copied from the Exome Variant Server EDEM1_000055 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1042+45C>A r.(=) p.(=) g.5244879C>A Copied from the Exome Variant Server EDEM1_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1043-40_1043-39insT r.(=) p.(=) g.5246712_5246713insT Copied from the Exome Variant Server EDEM1_000059 64/12520 0/8254 64/4266 - - - - - - -
?/? c.1043-4G>A r.spl? p.? g.5246748G>A Copied from the Exome Variant Server EDEM1_000061 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1050C>T r.(=) p.(=) g.5246759C>T Copied from the Exome Variant Server EDEM1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1140C>T r.(=) p.(=) g.5246849C>T Copied from the Exome Variant Server EDEM1_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1144C>T r.(?) p.(Leu382Phe) g.5246853C>T Copied from the Exome Variant Server EDEM1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1161A>C r.(?) p.(Glu387Asp) g.5246870A>C Copied from the Exome Variant Server EDEM1_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1170A>G r.(=) p.(=) g.5246879A>G Copied from the Exome Variant Server EDEM1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1217+23C>T r.(=) p.(=) g.5246949C>T Copied from the Exome Variant Server EDEM1_000050 2/12994 1/8598 1/4396 - - - - - - -
?/? c.1217+28G>C r.(=) p.(=) g.5246954G>C Copied from the Exome Variant Server EDEM1_000052 3/12990 3/8598 0/4392 - - - - - - -
?/? c.1218-52A>G r.(=) p.(=) g.5248786A>G Copied from the Exome Variant Server EDEM1_000054 17/5734 15/3982 2/1752 - - - - - - -
?/? c.1218-25C>G r.(=) p.(=) g.5248813C>G Copied from the Exome Variant Server EDEM1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1218-9G>A r.(=) p.(=) g.5248829G>A Copied from the Exome Variant Server EDEM1_000058 305/13006 3/8600 302/4406 - - - - - - -
?/? c.1218-7T>C r.(=) p.(=) g.5248831T>C Copied from the Exome Variant Server EDEM1_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1236A>G r.(=) p.(=) g.5248856A>G Copied from the Exome Variant Server EDEM1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1257C>G r.(=) p.(=) g.5248877C>G Copied from the Exome Variant Server EDEM1_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1258_1259del r.(?) p.(Tyr420Cysfs*16) g.5248878_5248879del Copied from the Exome Variant Server EDEM1_000066 2/12520 2/8254 0/4266 - - - - - - -
?/? c.1273A>G r.(?) p.(Met425Val) g.5248893A>G Copied from the Exome Variant Server EDEM1_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1322T>C r.(?) p.(Phe441Ser) g.5248942T>C Copied from the Exome Variant Server EDEM1_000070 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1338+21C>T r.(=) p.(=) g.5248979C>T Copied from the Exome Variant Server EDEM1_000072 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1339-29C>T r.(=) p.(=) g.5249749C>T Copied from the Exome Variant Server EDEM1_000074 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1406A>G r.(?) p.(Tyr469Cys) g.5249845A>G Copied from the Exome Variant Server EDEM1_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1452C>T r.(=) p.(=) g.5249891C>T Copied from the Exome Variant Server EDEM1_000078 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1477G>T r.(?) p.(Glu493*) g.5249916G>T Copied from the Exome Variant Server EDEM1_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1509+7G>C r.(=) p.(=) g.5249955G>C Copied from the Exome Variant Server EDEM1_000082 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1509+37G>T r.(=) p.(=) g.5249985G>T Copied from the Exome Variant Server EDEM1_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1510-55C>T r.(=) p.(=) g.5251805C>T Copied from the Exome Variant Server EDEM1_000086 23/4566 23/3182 0/1384 - - - - - - -
?/? c.1510-13G>A r.(=) p.(=) g.5251847G>A Copied from the Exome Variant Server EDEM1_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1520A>G r.(?) p.(Asn507Ser) g.5251870A>G Copied from the Exome Variant Server EDEM1_000090 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1521T>C r.(=) p.(=) g.5251871T>C Copied from the Exome Variant Server EDEM1_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1583+49del r.(=) p.(=) g.5251982del Copied from the Exome Variant Server EDEM1_000094 1/12514 1/8254 0/4260 - - - - - - -
?/? c.1584-28C>G r.(=) p.(=) g.5252777C>G Copied from the Exome Variant Server EDEM1_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1584-17A>G r.(=) p.(=) g.5252788A>G Copied from the Exome Variant Server EDEM1_000071 525/13006 3/8600 522/4406 - - - - - - -
?/? c.1584-14T>C r.(=) p.(=) g.5252791T>C Copied from the Exome Variant Server EDEM1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1584-9G>A r.(=) p.(=) g.5252796G>A Copied from the Exome Variant Server EDEM1_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1584-6T>C r.(=) p.(=) g.5252799T>C Copied from the Exome Variant Server EDEM1_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1587T>C r.(=) p.(=) g.5252808T>C Copied from the Exome Variant Server EDEM1_000079 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1593C>T r.(=) p.(=) g.5252814C>T Copied from the Exome Variant Server EDEM1_000081 224/13006 0/8600 224/4406 - - - - - - -
?/? c.1608C>T r.(=) p.(=) g.5252829C>T Copied from the Exome Variant Server EDEM1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1612A>G r.(?) p.(Ile538Val) g.5252833A>G Copied from the Exome Variant Server EDEM1_000085 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1676A>G r.(?) p.(Tyr559Cys) g.5252897A>G Copied from the Exome Variant Server EDEM1_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1680+27G>A r.(=) p.(=) g.5252928G>A Copied from the Exome Variant Server EDEM1_000089 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1680+32T>G r.(=) p.(=) g.5252933T>G Copied from the Exome Variant Server EDEM1_000091 30/13006 0/8600 30/4406 - - - - - - -
?/? c.1681-31T>C r.(=) p.(=) g.5254973T>C Copied from the Exome Variant Server EDEM1_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1681-11G>C r.(=) p.(=) g.5254993G>C Copied from the Exome Variant Server EDEM1_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1694A>G r.(?) p.(Asp565Gly) g.5255017A>G Copied from the Exome Variant Server EDEM1_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1702G>A r.(?) p.(Val568Ile) g.5255025G>A Copied from the Exome Variant Server EDEM1_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1725C>T r.(=) p.(=) g.5255048C>T Copied from the Exome Variant Server EDEM1_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1754C>T r.(?) p.(Ser585Phe) g.5255077C>T Copied from the Exome Variant Server EDEM1_000100 1/13006 0/8600 1/4406 - - - - - - -
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