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603 entries on 7 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

Type     

DNA change (genomic)     

Reference     

DB-ID     

Frequency     

Genetic origin     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD2 NM_005901.5 1 Unknown Substitution g.45368256A>G - chr1_000040 - Unknown Giada Tortora +/+ 11 c.1346T>C r.(?) p.Leu449Ser
SMAD2 NM_005901.5 1 Unknown Substitution g.45368233C>T - chr1_000041 - Unknown Giada Tortora +/+ 11 c.1369G>A r.(?) p.Gly457Arg
SMAD2 NM_005901.5 1 Unknown Substitution g.45371828T>C - chr1_000042 - Unknown Giada Tortora +/+ 10 c.1163A>G r.(?) p.Gln388Arg
SMAD2 NM_005901.5 1 Unknown Substitution g.45371828T>C - chr1_000042 - Unknown Giada Tortora +/+ 10 c.1163A>G r.(?) p.Gln388Arg
SMAD2 NM_005901.5 1 Unknown Substitution g.45371801G>T - chr1_000043 - Unknown Giada Tortora +/+ 10 c.1190C>A r.(?) p.Ser397Tyr
SMAD2 NM_005901.5 1 Unknown Substitution g.45374889A>T - chr1_000044 - Unknown Giada Tortora +/+ 8 c.954T>A r.(?) p.Asn318Lys
SMAD2 NM_005901.5 1 Unknown Substitution g.45374889A>T - chr1_000044 - Unknown Giada Tortora +/+ 8 c.954T>A r.(?) p.Asn318Lys
SMAD2 NM_005901.5 1 Unknown Substitution g.45372087T>G - chr1_000045 - Unknown Giada Tortora +/+ 9 c.1082A>C r.(?) p.Asn361Thr
SMAD2 NM_005901.5 1 Unknown Substitution g.45368202G>A - chr1_000046 - Unknown Giada Tortora +/+ 11 c.1400C>T r.(?) p.Ser467Leu
SMAD3 NM_005902.3 15 Maternal (confirmed) Deletion g.67482766_67482775del - SMAD3_000001 - Germline (inherited) Bart Loeys +/+ 9 c.1170_1179del r.(?) p.(Ser391Alafs*7)
SMAD3 NM_005902.3 15 Maternal (confirmed) Deletion g.67482766_67482775del - SMAD3_000001 - Germline (inherited) Giada Tortora +/+ 9 c.1170_1179del r.(?) p.(Ser391Alafs*7)
SMAD3 NM_005902.3 15 Maternal (confirmed) Deletion g.67482766_67482775del - SMAD3_000001 - Germline (inherited) Giada Tortora +/+ 9 c.1170_1179del r.(?) p.(Ser391Alafs*7)
SMAD3 NM_005902.3 15 Maternal (confirmed) Deletion g.67482766_67482775del - SMAD3_000001 - Germline (inherited) Giada Tortora +/+ 9 c.1170_1179del r.(?) p.(Ser391Alafs*7)
SMAD3 NM_005902.3 15 Maternal (confirmed) Deletion g.67482766_67482775del - SMAD3_000001 - Germline (inherited) Giada Tortora +/+ 9 c.1170_1179del r.(?) p.(Ser391Alafs*7)
SMAD3 NM_005902.3 15 Unknown Duplication g.67457395dupT - SMAD3_000002 - Unknown Giada Tortora ./. 2 c.369dupT r.(?) p.(Pro124Serfs*42)
SMAD3 NM_005902.3 15 Unknown Substitution g.67477170G>A - SMAD3_000003 - Unknown Giada Tortora ./. 7 c.977G>A r.(?) p.(Trp326*)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473788A>T - SMAD3_000004 - Unknown Giada Tortora ./. 6 c.868A>T r.(?) p.(Ile290Phe)
SMAD3 NM_005902.3 15 Paternal (confirmed) Substitution g.67473788A>T - SMAD3_000004 - Germline (inherited) Giada Tortora ./. 6 c.868A>T r.(?) p.(Ile290Phe)
SMAD3 NM_005902.3 15 Paternal (inferred) Deletion g.67358639_67358647delCGAGCTGGA - SMAD3_000005 - Germline (inherited) Giada Tortora ./. 1 c.147_155delCGAGCTGGA r.(?) p.(Asp49_Leu51del)
SMAD3 NM_005902.3 15 Paternal (confirmed) Substitution g.67358497C>T - SMAD3_000006 - Germline (inherited) Giada Tortora ./. 1 c.5C>T r.(?) p.(Ser2Leu)
SMAD3 NM_005902.3 15 Unknown Substitution g.67358497C>T - SMAD3_000006 - Unknown Giada Tortora ./. 1 c.5C>T r.(?) p.(Ser2Leu)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482781G>C - SMAD3_000007 giada.tortora Unknown Giada Tortora +/+ 9 c.1185G>C r.(?) p.(Trp395Cys)
SMAD3 NM_005902.3 15 Unknown Substitution g.67479834G>C - SMAD3_000008 giada.tortora Germline (inherited) Giada Tortora +/+ 8 c.1141G>C r.(?) p.(Gly381Arg)
SMAD3 NM_005902.3 15 Unknown Substitution g.67479834G>C - SMAD3_000008 giada.tortora Germline (inherited) Giada Tortora +/+ 8 c.1141G>C r.(?) p.(Gly381Arg)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482870C>T - SMAD3_000009 giada.tortora Unknown Giada Tortora +/+ 9 c.1274C>T r.(?) p.(Ser425Phe)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482820C>A - SMAD3_000010 giada.tortora Unknown Giada Tortora +/+ 9 c.1224C>A r.(?) p.(Asp408Glu)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473723G>T - SMAD3_000011 giada.tortora Unknown Giada Tortora +/+ 6 c.803G>T r.(?) p.(Arg268Leu)
SMAD3 NM_005902.3 15 Unknown Substitution g.67479795C>T - SMAD3_000012 giada.tortora Unknown Giada Tortora +/+ 8 c.1102C>T r.(?) p.(Arg368*)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457585G>A - SMAD3_000013 giada.tortora Unknown Giada Tortora +/+ 3 c.401-6G>A r.(=) p.(=)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457585G>A - chr15_000007 - Unknown Giada Tortora +/+ 3 c.401-6G>A r.(?) p.Val134Asp*fs33
SMAD3 NM_005902.3 15 Unknown Insertion g.67457326_67457327insAGGGCCGGCAGGC - SMAD3_000014 giada.tortora Unknown Giada Tortora +/+ 2 c.300_301insAGGGCCGGCAGGC r.(?) p.(His101Argfs*14)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482839G>C - SMAD3_000015 giada.tortora Unknown Giada Tortora +/+ 9 c.1243G>C r.(?) p.(Gly415Arg)
SMAD3 NM_005902.3 15 Unknown Substitution g.67459123dup - SMAD3_000016 giada.tortora Unknown Giada Tortora +/+ 4 c.539dup r.(?) p.(Pro181Thrfs*7)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473668G>A - SMAD3_000017 giada.tortora Unknown Giada Tortora +/+ 6 c.748G>A r.(?) p.(Ala250Thr)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457701G>T - SMAD3_000018 giada.tortora Unknown Giada Tortora +/+ 3 c.511G>T r.(?) p.(Glu171*)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473780G>A - SMAD3_000019 giada.tortora Unknown Giada Tortora +/+ 6 c.860G>A r.(?) p.(Arg287Gln)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482795T>C - SMAD3_000020 giada.tortora Unknown Giada Tortora +/+ 9 c.1199T>C r.(?) p.(Leu400Pro)
SMAD3 NM_005902.3 15 Unknown Substitution g.67479795C>T - SMAD3_000012 giada.tortora Unknown Giada Tortora +/+ 8 c.1102C>T r.(?) p.(Arg368*)
SMAD3 NM_005902.3 15 Paternal (inferred) Substitution g.67479795C>T - SMAD3_000012 giada.tortora Germline (inherited) Giada Tortora +/+ 8 c.1102C>T r.(?) p.(Arg368*)
SMAD3 NM_005902.3 15 Paternal (inferred) Substitution g.67479795C>T - SMAD3_000012 giada.tortora Germline (inherited) Giada Tortora +/+ 8 c.1102C>T r.(?) p.(Arg368*)
SMAD3 NM_005902.3 15 Unknown Substitution g.67479795C>T - SMAD3_000012 giada.tortora Germline (inherited) Giada Tortora +/+ 8 c.1102C>T r.(?) p.Arg368*
SMAD3 NM_005902.3 15 Unknown Substitution g.67473781delG - SMAD3_000021 giada.tortora Germline (inherited) Giada Tortora +/+ 6 c.861delG r.(?) p.(Arg288Aspfs*53)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473781delG - chr15_000015 - Germline (inherited) Giada Tortora +/+ 6 c.861delG r.(?) p.Arg288Aspfs*53
SMAD3 NM_005902.3 15 Unknown Substitution g.67473648G>C - SMAD3_000022 giada.tortora Germline (inherited) Giada Tortora +/+ 6 c.728G>C r.(?) p.(Arg243Pro)
SMAD3 NM_005902.3 15 Unknown Substitution g.67479795C>T - SMAD3_000012 giada.tortora Germline (inherited) Giada Tortora +/+ 8 c.1102C>T r.(?) p.(Arg368*)
SMAD3 NM_005902.3 15 Unknown Deletion g.67473682delC - SMAD3_000023 giada.tortora Unknown Giada Tortora +/+ 6 c.762delC r.(?) p.(Met255*)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457723G>C - SMAD3_000024 giada.tortora Unknown Giada Tortora +/+ 3 c.532+1G>C r.spl? p.?
SMAD3 NM_005902.3 15 Unknown Substitution g.67457316T>G - SMAD3_000025 giada.tortora Unknown Giada Tortora +/+ 2 c.290T>G r.(?) p.(Leu97Arg)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457400A>G - SMAD3_000026 giada.tortora Unknown Giada Tortora +/+ 2 c.374A>G r.(?) p.(Tyr125Cys)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457400A>G - SMAD3_000026 giada.tortora Unknown Giada Tortora +/+ 2 c.374A>C r.(?) p.(Tyr125Ser)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482843C>T - SMAD3_000027 giada.tortora Unknown Giada Tortora +/+ 9 c.1247C>T r.(?) p.(Ser416Phe)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457247G>A - SMAD3_000028 giada.tortora Unknown Giada Tortora +/+ 2 c.221G>A r.(?) p.(Arg74Gln)
SMAD3 NM_005902.3 15 Unknown Substitution g.67479784A>G - SMAD3_000029 giada.tortora Unknown Giada Tortora +/+ 8 c.1091A>G r.(?) p.(Tyr364Cys)
SMAD3 NM_005902.3 15 Unknown Other/Complex complex - chr15_000024 - Unknown Giada Tortora +/+ 0 del15q22.33 r.(?) p.xxx
SMAD3 NM_005902.3 15 Unknown Substitution g.67482818G>C - SMAD3_000030 giada.tortora Unknown Giada Tortora +/+ 9 c.1222G>C r.(?) p.(Asp408His)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482861C>T - SMAD3_000031 giada.tortora Germline (inherited) Giada Tortora +/+ 9 c.1265C>T r.(?) p.(Ser422Phe)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457295G>A - SMAD3_000032 giada.tortora Unknown Giada Tortora +/+ 2 c.269G>A r.(?) p.(Arg90His)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482864G>A - SMAD3_000033 giada.tortora Unknown Giada Tortora +/+ 9 c.1268G>A r.(?) p.(Ser423Asn)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473702C>T - SMAD3_000034 giada.tortora De novo Giada Tortora +/+ 6 c.782C>T r.(?) p.(Thr261Ile)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473702C>T - SMAD3_000034 giada.tortora Germline (inherited) Giada Tortora +/+ 6 c.782C>T r.(?) p.(Thr261Ile)
SMAD3 NM_005902.3 15 Unknown Other/Complex complex - chr15_000024 - Unknown Giada Tortora +/+ 0 del15q22.3q23 r.(?) p.xxx
SMAD3 NM_005902.3 15 Unknown Insertion g.67457591_67457595dup - SMAD3_000035 giada.tortora Germline (inherited) Giada Tortora +/+ 3 c.401_405dup r.(?) p.(Pro136Phefs*52)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457585G>A - chr15_000007 - Unknown Giada Tortora +/+ 3 c.401-6G>A r.(?) p.Val134Asp*fs33
SMAD3 NM_005902.3 15 Unknown Deletion g.67459130delT - SMAD3_000036 giada.tortora Unknown Giada Tortora +/+ 4 c.546delT r.(?) p.(Gly183Alafs*3)
SMAD3 NM_005902.3 15 Paternal (confirmed) Insertion g.67459168_67459169insTC - SMAD3_000037 giada.tortora Unknown Giada Tortora +/+ 4 c.584_585insTC r.(?) p.(Gln195Hisfs*3)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473635G>A - SMAD3_000038 giada.tortora Unknown Giada Tortora +/+ 6 c.715G>A r.(?) p.(Glu239Lys)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473779C>T - SMAD3_000039 giada.tortora Unknown Giada Tortora +/+ 6 c.859C>T r.(?) p.(Arg287Trp)
SMAD3 NM_005902.3 15 Unknown Substitution g.67477080T>C - SMAD3_000040 giada.tortora Unknown Giada Tortora +/+ 7 c.887T>C r.(?) p.(Leu296Pro)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482749A>G - SMAD3_000041 giada.tortora Unknown Giada Tortora +/+ 9 c.1155-2A>G r.spl? p.?
SMAD3 NM_005902.3 15 Unknown Substitution g.67482855G>A - SMAD3_000042 giada.tortora Unknown Giada Tortora +/+ 9 c.1259G>A r.(?) p.(Arg420His)
SMAD3 NM_005902.3 15 Unknown Insertion g.67479773dupT - SMAD3_000043 giada.tortora Unknown Giada Tortora +/+ 8 c.1080dupT r.(?) p.(Glu361*)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473692G>C - SMAD3_000044 giada.tortora Unknown Giada Tortora +/+ 6 c.772G>C r.(?) p.(Asp258His)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473692G>C - SMAD3_000044 giada.tortora Unknown Giada Tortora +/+ 6 c.772G>C r.(?) p.(Asp258His)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473692G>C - SMAD3_000044 giada.tortora Unknown Giada Tortora +/+ 6 c.772G>C r.(?) p.(Asp258His)
SMAD3 NM_005902.3 15 Unknown Substitution g.67477203G>A - SMAD3_000045 giada.tortora Unknown Giada Tortora +/+ 7 c.1009+1G>A r.spl? p.?
SMAD3 NM_005902.3 15 Unknown Substitution g.67477203G>A - SMAD3_000045 giada.tortora Unknown Giada Tortora +/+ 7 c.1009+1G>A r.spl? p.?
SMAD3 NM_005902.3 15 Unknown Substitution g.67473779C>T - SMAD3_000039 giada.tortora Unknown Giada Tortora +/+ 6 c.859C>T r.(?) p.(Arg287Trp)
SMAD3 NM_005902.3 15 Unknown Deletion g.67472919delAT - chr15_000041 - Unknown Giada Tortora +/+ 6 c.741-742delAT r.(?) p.Thr247fs*61
SMAD3 NM_005902.3 15 Unknown Substitution g.67473702C>T - SMAD3_000034 giada.tortora Unknown Giada Tortora +/+ 6 c.782C>T r.(?) p.(Thr261Ile)
SMAD3 NM_005902.3 15 Unknown Substitution g.67479738G>C - SMAD3_000046 giada.tortora Unknown Giada Tortora +/+ 8 c.1045G>C r.(?) p.(Ala349Pro)
SMAD3 NM_005902.3 15 Unknown Insertion g.67479773dupT - SMAD3_000043 giada.tortora Unknown Giada Tortora +/+ 8 c.1080dupT r.(?) p.(Glu361*)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473708C>T - SMAD3_000047 giada.tortora Unknown Giada Tortora +/+ 6 c.788C>T r.(?) p.(Pro263Leu)
SMAD3 NM_005902.3 15 Unknown Deletion g.67457339delG - SMAD3_000048 giada.tortora Unknown Giada Tortora +/+ 2 c.313delG r.(?) p.(Ala105Profs*11)
SMAD3 NM_005902.3 15 Unknown Substitution g.67473779C>T - SMAD3_000039 giada.tortora Unknown Giada Tortora +/+ 6 c.859C>T r.(?) p.(Arg287Trp)
SMAD3 NM_005902.3 15 Unknown Deletion g.67472919delAT - chr15_000041 - Unknown Giada Tortora +/+ 6 c.741-742delAT r.(?) p.Thr247Profs*61
SMAD3 NM_005902.3 15 Unknown Substitution g.67473702C>T - SMAD3_000034 giada.tortora Unknown Giada Tortora +/+ 6 c.782C>T r.(?) p.(Thr261Ile)
SMAD3 NM_005902.3 15 Unknown Substitution g.67482804C>T - SMAD3_000049 giada.tortora Unknown Giada Tortora +/+ 9 c.1208C>T r.(?) p.(Pro403Leu)
SMAD3 NM_005902.3 15 Unknown Substitution g.67358495G>A - chr15_000046 - Unknown Giada Tortora +/+ 1 c.3G>A r.(?) p.Met1Ile
SMAD3 NM_005902.3 15 Unknown Substitution g.67457292G>A - SMAD3_000050 giada.tortora Unknown Giada Tortora +/+ 2 c.266G>A r.(?) p.(Cys89Tyr)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457307G>T - SMAD3_000051 giada.tortora Unknown Giada Tortora +/+ 2 c.281G>T r.(?) p.(Trp94Leu)
SMAD3 NM_005902.3 15 Unknown Substitution g.67358494T>C - chr15_000049 - Unknown Giada Tortora +/+ 1 c.2T>C r.(?) p.Met1Thr
SMAD3 NM_005902.3 15 Unknown Substitution g.67473717C>A - SMAD3_000052 giada.tortora Unknown Giada Tortora +/+ 6 c.797C>A r.(?) p.(Ser266*)
SMAD3 NM_005902.3 15 Unknown Deletion g.67457645delC - SMAD3_000053 giada.tortora Unknown Giada Tortora +/+ 3 c.455delC r.(?) p.(Pro152Hisfs*34)
SMAD3 NM_005902.3 15 Unknown Substitution g.67457396C>A - SMAD3_000054 giada.tortora Unknown Giada Tortora +/+ 2 c.370C>A r.(?) p.(Pro124Thr)
SMAD3 NM_005902.3 15 Unknown Substitution g.67477204T>A - SMAD3_000055 giada.tortora Unknown Giada Tortora +/+ 7 c.1009+2T>A r.spl? p.?
SMAD3 NM_005902.3 15 Unknown Substitution g.67457247G>A - SMAD3_000028 giada.tortora Unknown Giada Tortora +/+ 2 c.221G>A r.(?) p.(Arg74Gln)
TGFB2 NM_001135599.2 1 Unknown Substitution g.218578555C>T - TGFB2_000001 - Unknown Giada Tortora ./. 3 c.475C>T r.(?) p.(Arg159*)
TGFB2 NM_001135599.2 1 Unknown Substitution g.218578555C>T - TGFB2_000001 - Unknown Giada Tortora +/+ 3 c.475C>T r.(?) p.(Arg159*)
TGFB2 NM_001135599.2 1 Unknown Insertion g.218578598_218578599insT - TGFB2_000003 giada.tortora Unknown Giada Tortora +/+ 3 c.518_519insT r.(?) p.(Lys174Glufs*18)
TGFB2 NM_001135599.2 1 Unknown Substitution g.218614609G>C - TGFB2_000004 giada.tortora Unknown Giada Tortora +/+ 8 c.1234G>C r.(?) p.(Asp412His)
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