Unique variants in gene EGF

Information The variants shown are described using the NM_001178130.1 transcript reference sequence.

229 entries on 3 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.-51C>T r.(=) p.(=) g.110834441C>T Copied from the Exome Variant Server EGF_000001 1/13004 1/8598 0/4406
1 c.-46G>A r.(=) p.(=) g.110834446G>A Copied from the Exome Variant Server EGF_000002 1/13004 0/8598 1/4406
1 c.46A>C r.(?) p.(Ser16Arg) g.110834537A>C Copied from the Exome Variant Server EGF_000003 3/13006 3/8600 0/4406
1 c.47G>C r.(?) p.(Ser16Thr) g.110834538G>C Copied from the Exome Variant Server EGF_000004 1/13006 1/8600 0/4406
1 c.127+29G>T r.(=) p.(=) g.110834647G>T Copied from the Exome Variant Server EGF_000005 167/13006 0/8600 167/4406
1 c.127+35C>T r.(=) p.(=) g.110834653C>T Copied from the Exome Variant Server EGF_000006 1/13006 0/8600 1/4406
1 c.127+42C>T r.(=) p.(=) g.110834660C>T Copied from the Exome Variant Server EGF_000007 1/13006 1/8600 0/4406
1 c.127+46C>T r.(=) p.(=) g.110834664C>T Copied from the Exome Variant Server EGF_000008 1/13006 1/8600 0/4406
1 c.128-30A>G r.(=) p.(=) g.110862072A>G Copied from the Exome Variant Server EGF_000009 1/12970 1/8590 0/4380
1 c.176T>C r.(?) p.(Ile59Thr) g.110862150T>C Copied from the Exome Variant Server EGF_000010 1/13006 1/8600 0/4406
1 c.192C>A r.(=) p.(=) g.110862166C>A Copied from the Exome Variant Server EGF_000011 1/13006 1/8600 0/4406
1 c.217G>A r.(?) p.(Ala73Thr) g.110862191G>A Copied from the Exome Variant Server EGF_000012 1/13006 1/8600 0/4406
1 c.264C>T r.(=) p.(=) g.110862238C>T Copied from the Exome Variant Server EGF_000013 356/13006 9/8600 347/4406
1 c.327+7T>C r.(=) p.(=) g.110862308T>C Copied from the Exome Variant Server EGF_000014 1/13006 0/8600 1/4406
1 c.327+51_327+55del r.(=) p.(=) g.110862352_110862356del Copied from the Exome Variant Server EGF_000015 6/12344 6/8146 0/4198
1 c.448T>A r.(?) p.(Ser150Thr) g.110864530T>A Copied from the Exome Variant Server EGF_000016 3/13002 3/8598 0/4404
1 c.451C>T r.(?) p.(His151Tyr) g.110864533C>T Copied from the Exome Variant Server EGF_000017 276/13002 3/8598 273/4404
1 c.464G>A r.(?) p.(Ser155Asn) g.110864546G>A Copied from the Exome Variant Server EGF_000018 2/13006 2/8600 0/4406
1 c.465T>G r.(?) p.(Ser155Arg) g.110864547T>G Copied from the Exome Variant Server EGF_000019 1/13006 0/8600 1/4406
1 c.484A>G r.(?) p.(Asn162Asp) g.110864566A>G Copied from the Exome Variant Server EGF_000020 1/13002 1/8598 0/4404
1 c.509+40A>C r.(=) p.(=) g.110864631A>C Copied from the Exome Variant Server EGF_000021 1/12978 1/8574 0/4404
1 c.510-14G>A r.(=) p.(=) g.110864984G>A Copied from the Exome Variant Server EGF_000022 1/13006 0/8600 1/4406
1 c.552A>G r.(=) p.(=) g.110865040A>G Copied from the Exome Variant Server EGF_000023 1/13006 1/8600 0/4406
1 c.556G>C r.(?) p.(Asp186His) g.110865044G>C Copied from the Exome Variant Server EGF_000024 248/13006 3/8600 245/4406
1 c.561C>A r.(=) p.(=) g.110865049C>A Copied from the Exome Variant Server EGF_000025 1/13006 1/8600 0/4406
1 c.637C>T r.(?) p.(Arg213Trp) g.110865125C>T Copied from the Exome Variant Server EGF_000026 2/13006 2/8600 0/4406
1 c.638G>A r.(?) p.(Arg213Gln) g.110865126G>A Copied from the Exome Variant Server EGF_000027 3/13006 2/8600 1/4406
1 c.662G>C r.(?) p.(Arg221Thr) g.110865150G>C Copied from the Exome Variant Server EGF_000028 11/13006 11/8600 0/4406
1 c.687C>A r.(?) p.(Cys229*) g.110865175C>A Copied from the Exome Variant Server EGF_000029 1/13006 0/8600 1/4406
1 c.723T>C r.(=) p.(=) g.110865211T>C Copied from the Exome Variant Server EGF_000030 1/13006 0/8600 1/4406
1 c.730C>T r.(?) p.(Pro244Ser) g.110865218C>T Copied from the Exome Variant Server EGF_000031 2/13006 2/8600 0/4406
1 c.736C>G r.(?) p.(Gln246Glu) g.110865224C>G Copied from the Exome Variant Server EGF_000032 1/13006 1/8600 0/4406
1 c.737+11C>T r.(=) p.(=) g.110865236C>T Copied from the Exome Variant Server EGF_000033 1/13006 0/8600 1/4406
1 c.737+39T>C r.(=) p.(=) g.110865264T>C Copied from the Exome Variant Server EGF_000034 1/13006 1/8600 0/4406
1 c.737+46T>G r.(=) p.(=) g.110865271T>G Copied from the Exome Variant Server EGF_000035 4297/13004 2917/8600 1380/4404
1 c.737+49A>G r.(=) p.(=) g.110865274A>G Copied from the Exome Variant Server EGF_000036 1/13000 1/8600 0/4400
1 c.738-51A>C r.(=) p.(=) g.110866178A>C Copied from the Exome Variant Server EGF_000037 4934/13004 2924/8598 2010/4406
1 c.738-11T>A r.(=) p.(=) g.110866218T>A Copied from the Exome Variant Server EGF_000038 1/13006 1/8600 0/4406
1 c.769G>C r.(?) p.(Asp257His) g.110866260G>C Copied from the Exome Variant Server EGF_000039 86/13006 0/8600 86/4406
1 c.837C>T r.(=) p.(=) g.110866328C>T Copied from the Exome Variant Server EGF_000040 1/13006 1/8600 0/4406
1 c.866T>G r.(?) p.(Phe289Cys) g.110866357T>G Copied from the Exome Variant Server EGF_000041 1/13006 0/8600 1/4406
1 c.875T>A r.(?) p.(Leu292His) g.110866366T>A Copied from the Exome Variant Server EGF_000042 59/13006 0/8600 59/4406
1 c.877G>T r.(?) p.(Gly293Cys) g.110866368G>T Copied from the Exome Variant Server EGF_000043 1/13006 1/8600 0/4406
1 c.891A>C r.(=) p.(=) g.110866382A>C Copied from the Exome Variant Server EGF_000044 11/13006 0/8600 11/4406
1 c.924T>C r.(=) p.(=) g.110866415T>C Copied from the Exome Variant Server EGF_000045 1/13006 1/8600 0/4406
1 c.927C>A r.(?) p.(Asp309Glu) g.110866418C>A Copied from the Exome Variant Server EGF_000046 1/13006 1/8600 0/4406
1 c.940+10C>T r.(=) p.(=) g.110866441C>T Copied from the Exome Variant Server EGF_000047 1/13006 1/8600 0/4406
1 c.940+11G>A r.(=) p.(=) g.110866442G>A Copied from the Exome Variant Server EGF_000048 4959/13006 2941/8600 2018/4406
1 c.940+22G>A r.(=) p.(=) g.110866453G>A Copied from the Exome Variant Server EGF_000049 358/13006 10/8600 348/4406
1 c.941-35C>T r.(=) p.(=) g.110880433C>T Copied from the Exome Variant Server EGF_000050 1/13006 0/8600 1/4406
1 c.941-9C>A r.(=) p.(=) g.110880459C>A Copied from the Exome Variant Server EGF_000051 8/13006 0/8600 8/4406
1 c.978C>T r.(=) p.(=) g.110880505C>T Copied from the Exome Variant Server EGF_000052 9/13006 0/8600 9/4406
1 c.987G>A r.(=) p.(=) g.110880514G>A Copied from the Exome Variant Server EGF_000053 1/13006 1/8600 0/4406
1 c.1066+10G>C r.(=) p.(=) g.110880603G>C Copied from the Exome Variant Server EGF_000054 1/13006 1/8600 0/4406
1 c.1066+38C>T r.(=) p.(=) g.110880631C>T Copied from the Exome Variant Server EGF_000055 4/13006 0/8600 4/4406
1 c.1066+40C>T r.(=) p.(=) g.110880633C>T Copied from the Exome Variant Server EGF_000056 5/13006 2/8600 3/4406
1 c.1067-23A>G r.(=) p.(=) g.110882000A>G Copied from the Exome Variant Server EGF_000057 1/13006 0/8600 1/4406
1 c.1095T>C r.(=) p.(=) g.110882051T>C Copied from the Exome Variant Server EGF_000058 336/13006 296/8600 40/4406
1 c.1097G>A r.(?) p.(Gly366Asp) g.110882053G>A Copied from the Exome Variant Server EGF_000059 7/13006 0/8600 7/4406
1 c.1100G>A r.(?) p.(Cys367Tyr) g.110882056G>A Copied from the Exome Variant Server EGF_000060 1/13006 0/8600 1/4406
1 c.1180C>T r.(?) p.(Arg394*) g.110882136C>T Copied from the Exome Variant Server EGF_000061 2/13006 0/8600 2/4406
1 c.1181G>A r.(?) p.(Arg394Gln) g.110882137G>A Copied from the Exome Variant Server EGF_000062 1/13006 0/8600 1/4406
1 c.1189C>T r.(?) p.(Gln397*) g.110882145C>T Copied from the Exome Variant Server EGF_000063 2/13006 2/8600 0/4406
1 c.1189+11G>A r.(=) p.(=) g.110882156G>A Copied from the Exome Variant Server EGF_000064 1/13006 0/8600 1/4406
1 c.1190-39G>T r.(=) p.(=) g.110882980G>T Copied from the Exome Variant Server EGF_000065 5/13006 2/8600 3/4406
1 c.1190-23T>C r.(=) p.(=) g.110882996T>C Copied from the Exome Variant Server EGF_000066 891/13006 29/8600 862/4406
1 c.1190-10T>C r.(=) p.(=) g.110883009T>C Copied from the Exome Variant Server EGF_000067 2/13006 2/8600 0/4406
1 c.1208G>A r.(?) p.(Arg403His) g.110883037G>A Copied from the Exome Variant Server EGF_000068 1/13006 1/8600 0/4406
1 c.1244C>A r.(?) p.(Thr415Lys) g.110883073C>A Copied from the Exome Variant Server EGF_000069 1/13006 1/8600 0/4406
1 c.1253G>T r.(?) p.(Gly418Val) g.110883082G>T Copied from the Exome Variant Server EGF_000070 1/13006 0/8600 1/4406
1 c.1258T>C r.(=) p.(=) g.110883087T>C Copied from the Exome Variant Server EGF_000071 1/13006 1/8600 0/4406
1 c.1292G>A r.(?) p.(Arg431Lys) g.110883121G>A Copied from the Exome Variant Server EGF_000072 1610/13006 575/8600 1035/4406
1 c.1308T>C r.(=) p.(=) g.110883137T>C Copied from the Exome Variant Server EGF_000073 4/13006 1/8600 3/4406
1 c.1312+23C>T r.(=) p.(=) g.110883164C>T Copied from the Exome Variant Server EGF_000074 20/13006 0/8600 20/4406
1 c.1313-33C>T r.(=) p.(=) g.110884296C>T Copied from the Exome Variant Server EGF_000075 5/13006 2/8600 3/4406
1 c.1313-10G>T r.(=) p.(=) g.110884319G>T Copied from the Exome Variant Server EGF_000076 145/13006 125/8600 20/4406
1 c.1313-3T>C r.spl? p.? g.110884326T>C Copied from the Exome Variant Server EGF_000077 1/13006 1/8600 0/4406
1 c.1354G>A r.(?) p.(Val452Ile) g.110884370G>A Copied from the Exome Variant Server EGF_000078 1/13006 0/8600 1/4406
1 c.1367C>A r.(?) p.(Pro456Gln) g.110884383C>A Copied from the Exome Variant Server EGF_000079 20/13006 1/8600 19/4406
1 c.1380A>G r.(=) p.(=) g.110884396A>G Copied from the Exome Variant Server EGF_000080 132/13006 123/8600 9/4406
1 c.1404C>T r.(=) p.(=) g.110884420C>T Copied from the Exome Variant Server EGF_000081 3/13006 3/8600 0/4406
1 c.1416T>A r.(?) p.(Asp472Glu) g.110884432T>A Copied from the Exome Variant Server EGF_000082 10/13006 8/8600 2/4406
1 c.1438+35del r.(=) p.(=) g.110884489del Copied from the Exome Variant Server EGF_000084 3/12518 0/8254 3/4264
1 c.1438+35dup r.(=) p.(=) g.110884489dup Copied from the Exome Variant Server EGF_000083 52/12518 0/8254 52/4264
1 c.1438+42A>T r.(=) p.(=) g.110884496A>T Copied from the Exome Variant Server EGF_000085 4/13006 0/8600 4/4406
1 c.1438+47del r.(=) p.(=) g.110884501del Copied from the Exome Variant Server EGF_000086 1/12518 1/8254 0/4264
1 c.1438+48G>A r.(=) p.(=) g.110884502G>A Copied from the Exome Variant Server EGF_000087 1/13006 1/8600 0/4406
1 c.1439-47T>C r.(=) p.(=) g.110885510T>C Copied from the Exome Variant Server EGF_000088 2/13006 1/8600 1/4406
1 c.1439-40C>T r.(=) p.(=) g.110885517C>T Copied from the Exome Variant Server EGF_000089 10/13006 8/8600 2/4406
1 c.1487T>C r.(?) p.(Met496Thr) g.110885605T>C Copied from the Exome Variant Server EGF_000090 1/13006 0/8600 1/4406
1 c.1491T>C r.(=) p.(=) g.110885609T>C Copied from the Exome Variant Server EGF_000091 1/13006 1/8600 0/4406
1 c.1496A>G r.(?) p.(Asp499Gly) g.110885614A>G Copied from the Exome Variant Server EGF_000092 1/13006 1/8600 0/4406
1 c.1521_1524del r.(?) p.(Gln509Argfs*8) g.110885639_110885642del Copied from the Exome Variant Server EGF_000093 1/12520 1/8254 0/4266
1 c.1575+6G>T r.(=) p.(=) g.110885699G>T Copied from the Exome Variant Server EGF_000094 6/13006 6/8600 0/4406
1 c.1575+32A>G r.(=) p.(=) g.110885725A>G Copied from the Exome Variant Server EGF_000095 1/13006 1/8600 0/4406
1 c.1575+50A>G r.(=) p.(=) g.110885743A>G Copied from the Exome Variant Server EGF_000096 238/13006 2/8600 236/4406
1 c.1576-37del r.(=) p.(=) g.110890090del Copied from the Exome Variant Server EGF_000098 7/12520 4/8254 3/4266
1 c.1576-37dup r.(=) p.(=) g.110890090dup Copied from the Exome Variant Server EGF_000097 57/12520 6/8254 51/4266
1 c.1576-3T>C r.spl? p.? g.110890124T>C Copied from the Exome Variant Server EGF_000099 1/13006 0/8600 1/4406
1 c.1595C>T r.(?) p.(Ala532Val) g.110890146C>T Copied from the Exome Variant Server EGF_000100 1/13006 1/8600 0/4406
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