Unique variants in gene SMAD4

Information The variants shown are described using the NM_005359.5 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.-51T>C r.(=) p.(=) g.48573366T>C Copied from the Exome Variant Server SMAD4_000001 1/13004 1/8600 0/4404
1 c.20C>T r.(?) p.(Thr7Met) g.48573436C>T Copied from the Exome Variant Server SMAD4_000002 1/13006 1/8600 0/4406
1 c.21G>A r.(=) p.(=) g.48573437G>A Copied from the Exome Variant Server SMAD4_000003 3/13006 2/8600 1/4406
1 c.39T>C r.(=) p.(=) g.48573455T>C Copied from the Exome Variant Server SMAD4_000004 1/13006 1/8600 0/4406
1 c.102A>G r.(=) p.(=) g.48573518A>G Copied from the Exome Variant Server SMAD4_000005 6/13006 0/8600 6/4406
1 c.249+24A>G r.(=) p.(=) g.48573689A>G Copied from the Exome Variant Server SMAD4_000006 3/12998 2/8600 1/4398
1 c.250-48T>C r.(=) p.(=) g.48575008T>C Copied from the Exome Variant Server SMAD4_000007 1/13006 0/8600 1/4406
1 c.250-15C>T r.(=) p.(=) g.48575041C>T Copied from the Exome Variant Server SMAD4_000008 1/13006 0/8600 1/4406
1 c.354G>A r.(=) p.(=) g.48575160G>A Copied from the Exome Variant Server SMAD4_000009 42/13006 33/8600 9/4406
1 c.369T>C r.(=) p.(=) g.48575175T>C Copied from the Exome Variant Server SMAD4_000010 1/13006 1/8600 0/4406
1 c.387T>C r.(=) p.(=) g.48575193T>C Copied from the Exome Variant Server SMAD4_000011 1/13006 1/8600 0/4406
1 c.424+5G>A r.spl? p.? g.48575235G>A Copied from the Exome Variant Server SMAD4_000012 3/13006 2/8600 1/4406
1 c.425-29T>C r.(=) p.(=) g.48575636T>C Copied from the Exome Variant Server SMAD4_000013 1/12998 0/8596 1/4402
1 c.454+23C>T r.(=) p.(=) g.48575717C>T Copied from the Exome Variant Server SMAD4_000014 18/13000 0/8596 18/4404
1 c.454+38G>C r.(=) p.(=) g.48575732G>C Copied from the Exome Variant Server SMAD4_000015 3/12998 2/8596 1/4402
1 c.454+54T>G r.(=) p.(=) g.48575748T>G Copied from the Exome Variant Server SMAD4_000016 13/4566 11/3182 2/1384
1 c.455-43A>T r.(=) p.(=) g.48581108A>T Copied from the Exome Variant Server SMAD4_000017 107/12824 2/8476 105/4348
1 c.455-6A>G r.(=) p.(=) g.48581145A>G Copied from the Exome Variant Server SMAD4_000018 38/13006 0/8600 38/4406
1 c.521C>A r.(?) p.(Thr174Asn) g.48581217C>A Copied from the Exome Variant Server SMAD4_000019 5/13006 0/8600 5/4406
1 c.525A>G r.(=) p.(=) g.48581221A>G Copied from the Exome Variant Server SMAD4_000020 1/13006 0/8600 1/4406
1 c.565C>T r.(?) p.(Arg189Cys) g.48581261C>T Copied from the Exome Variant Server SMAD4_000021 20/13006 0/8600 20/4406
1 c.582A>G r.(=) p.(=) g.48581278A>G Copied from the Exome Variant Server SMAD4_000022 2/13006 0/8600 2/4406
1 c.647A>G r.(?) p.(Asn216Ser) g.48581343A>G Copied from the Exome Variant Server SMAD4_000023 1/13006 0/8600 1/4406
1 c.667+17G>A r.(=) p.(=) g.48581380G>A Copied from the Exome Variant Server SMAD4_000024 1/13006 1/8600 0/4406
1 c.667+20_667+22del r.(=) p.(=) g.48581383_48581385del Copied from the Exome Variant Server SMAD4_000025 1/12518 1/8254 0/4264
1 c.668-26A>G r.(=) p.(=) g.48584469A>G Copied from the Exome Variant Server SMAD4_000026 12/13006 0/8600 12/4406
1 c.699T>C r.(=) p.(=) g.48584526T>C Copied from the Exome Variant Server SMAD4_000027 1/13006 0/8600 1/4406
1 c.746A>C r.(?) p.(Gln249Pro) g.48584573A>C Copied from the Exome Variant Server SMAD4_000028 1/13006 1/8600 0/4406
1 c.747G>C r.(?) p.(Gln249His) g.48584574G>C Copied from the Exome Variant Server SMAD4_000029 1/13006 1/8600 0/4406
1 c.787+15T>G r.(=) p.(=) g.48584629T>G Copied from the Exome Variant Server SMAD4_000030 2/13006 1/8600 1/4406
1 c.787+20A>C r.(=) p.(=) g.48584634A>C Copied from the Exome Variant Server SMAD4_000031 1/13006 0/8600 1/4406
1 c.788-13C>T r.(=) p.(=) g.48584697C>T Copied from the Exome Variant Server SMAD4_000032 1/13006 1/8600 0/4406
1 c.809G>A r.(?) p.(Gly270Glu) g.48584731G>A Copied from the Exome Variant Server SMAD4_000033 1/13006 1/8600 0/4406
1 c.852A>G r.(=) p.(=) g.48584774A>G Copied from the Exome Variant Server SMAD4_000034 2/13006 1/8600 1/4406
1 c.880A>G r.(?) p.(Met294Val) g.48584802A>G Copied from the Exome Variant Server SMAD4_000035 5/13006 0/8600 5/4406
1 c.884C>T r.(?) p.(Pro295Leu) g.48584806C>T Copied from the Exome Variant Server SMAD4_000036 1/13006 1/8600 0/4406
1 c.904+14T>C r.(=) p.(=) g.48584840T>C Copied from the Exome Variant Server SMAD4_000037 2/13006 0/8600 2/4406
1 c.905-52A>G r.(=) p.(=) g.48586184A>G Copied from the Exome Variant Server SMAD4_000038 608/10296 568/7162 40/3134
1 c.909T>C r.(=) p.(=) g.48586240T>C Copied from the Exome Variant Server SMAD4_000039 1/13006 0/8600 1/4406
1 c.910G>A r.(?) p.(Val304Ile) g.48586241G>A Copied from the Exome Variant Server SMAD4_000040 1/13006 1/8600 0/4406
1 c.927A>G r.(=) p.(=) g.48586258A>G Copied from the Exome Variant Server SMAD4_000041 1/13006 1/8600 0/4406
1 c.955+19T>C r.(=) p.(=) g.48586305T>C Copied from the Exome Variant Server SMAD4_000042 1/13006 0/8600 1/4406
1 c.955+45G>A r.(=) p.(=) g.48586331G>A Copied from the Exome Variant Server SMAD4_000043 1/13006 1/8600 0/4406
1 c.955+58C>T r.(=) p.(=) g.48586344C>T Copied from the Exome Variant Server SMAD4_000044 251/4566 232/3182 19/1384
1 c.956-31G>A r.(=) p.(=) g.48591762G>A Copied from the Exome Variant Server SMAD4_000045 656/13006 9/8600 647/4406
1 c.1086T>C r.(=) p.(=) g.48591923T>C Copied from the Exome Variant Server SMAD4_000047 27/13006 13/8600 14/4406
1 c.1106A>G r.(?) p.(Asn369Ser) g.48591943A>G Copied from the Exome Variant Server SMAD4_000049 1/13006 0/8600 1/4406
1 c.1122A>G r.(=) p.(=) g.48591959A>G Copied from the Exome Variant Server SMAD4_000046 1/13006 0/8600 1/4406
1 c.1139+44T>C r.(=) p.(=) g.48592020T>C Copied from the Exome Variant Server SMAD4_000048 116/13006 7/8600 109/4406
1 c.1140-40A>C r.(=) p.(=) g.48593349A>C Copied from the Exome Variant Server SMAD4_000050 1/13006 0/8600 1/4406
1 c.1140-22T>C r.(=) p.(=) g.48593367T>C Copied from the Exome Variant Server SMAD4_000051 2/13006 0/8600 2/4406
1 c.1140-10T>C r.(=) p.(=) g.48593379T>C Copied from the Exome Variant Server SMAD4_000052 12/13006 1/8600 11/4406
1 c.1218G>A r.(=) p.(=) g.48593467G>A Copied from the Exome Variant Server SMAD4_000053 1/13006 1/8600 0/4406
1 c.1219G>C r.(?) p.(Val407Leu) g.48593468G>C Copied from the Exome Variant Server SMAD4_000054 1/13006 1/8600 0/4406
1 c.1299A>G r.(=) p.(=) g.48593548A>G Copied from the Exome Variant Server SMAD4_000055 1/13006 0/8600 1/4406
1 c.1308+33_1308+34del r.(=) p.(=) g.48593590_48593591del Copied from the Exome Variant Server SMAD4_000056 99/12518 6/8254 93/4264
1 c.1338G>A r.(=) p.(=) g.48603037G>A Copied from the Exome Variant Server SMAD4_000057 1/13006 0/8600 1/4406
1 c.1392C>T r.(=) p.(=) g.48603091C>T Copied from the Exome Variant Server SMAD4_000058 4/13004 2/8598 2/4406
1 c.1448-52A>T r.(=) p.(=) g.48604574A>T Copied from the Exome Variant Server SMAD4_000059 1/5734 1/3982 0/1752
1 c.1448-49G>C r.(=) p.(=) g.48604577G>C Copied from the Exome Variant Server SMAD4_000060 1/13006 1/8600 0/4406
1 c.1448-33T>A r.(=) p.(=) g.48604593T>A Copied from the Exome Variant Server SMAD4_000061 6/13006 6/8600 0/4406
1 c.1573A>G r.(?) p.(Ile525Val) g.48604751A>G Copied from the Exome Variant Server SMAD4_000062 11/13006 10/8600 1/4406
1 c.1611C>T r.(=) p.(=) g.48604789C>T Copied from the Exome Variant Server SMAD4_000063 1/13006 1/8600 0/4406
1 c.1647A>G r.(=) p.(=) g.48604825A>G Copied from the Exome Variant Server SMAD4_000064 2/13006 1/8600 1/4406
1 c.1653A>G r.(=) p.(=) g.48604831A>G Copied from the Exome Variant Server SMAD4_000065 1/13006 1/8600 0/4406
1 c.*11C>T r.(=) p.(=) g.48604848C>T Copied from the Exome Variant Server SMAD4_000066 66/13006 55/8600 11/4406
1 c.*12G>A r.(=) p.(=) g.48604849G>A Copied from the Exome Variant Server SMAD4_000067 1/13006 0/8600 1/4406
1 c.*26C>T r.(=) p.(=) g.48604863C>T Copied from the Exome Variant Server SMAD4_000068 2/13006 0/8600 2/4406
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