View all variants affecting transcripts

403 entries on 5 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Genetic origin     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
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 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 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)
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 Maternal (inferred) Substitution g.218610710C>T - TGFB2_000002 - Germline (inherited) Raya Al Maskari +?/. 6 c.1042C>T r.(?) p.(Arg348Cys)
TGFB2 NM_003238.3 1 Maternal (inferred) Substitution g.218610710C>T - TGFB2_000002 - Germline (inherited) Raya Al Maskari +?/. 6 c.958C>T r.(?) p.(Arg320Cys)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911534C>T - TGFBR1_000003 - Unknown Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907053A>G - TGFBR1_000004 - De novo Giada Tortora +/+ 6 c.1013A>G r.(?) p.(Asn338Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911540A>G - TGFBR1_000005 - Unknown Giada Tortora +/+ 9 c.1465A>G r.(?) p.(Lys489Glu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900171C>T - TGFBR1_000006 - De novo Giada Tortora +/+ 4 c.605C>T r.(?) p.(Ala202Val)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900251G>C - TGFBR1_000007 - Unknown Giada Tortora +/+ 4 c.685G>C r.(?) p.(Val229Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911534C>T - TGFBR1_000008 - Unknown Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900363A>G - TGFBR1_000009 - Unknown Giada Tortora +/+ 4 c.797A>G r.(?) p.(Asp266Gly)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900288C>T - TGFBR1_000010 - Unknown Giada Tortora +/+ 4 c.722C>T r.(?) p.(Ser241Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000011 - Unknown Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000012 - Unknown Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000013 - Unknown Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000014 - Unknown Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900288C>T - TGFBR1_000015 - De novo Giada Tortora +/+ 4 c.722C>T r.(?) p.(Ser241Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911534C>T - TGFBR1_000016 - Unknown Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911532T>G - TGFBR1_000017 - Unknown Giada Tortora +/+ 9 c.1457T>G r.(?) p.(Leu486Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907043A>C - TGFBR1_000018 - Unknown Giada Tortora +/+ 6 c.1003A>C r.(?) p.(Lys335Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911508A>G - TGFBR1_000019 - Germline (inherited) Giada Tortora +/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
TGFBR1 NM_004612.2 9 Paternal (inferred) Substitution g.101911508A>G - TGFBR1_000020 - Unknown Giada Tortora +/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
TGFBR1 NM_004612.2 9 Paternal (inferred) Substitution g.101911508A>G - TGFBR1_000021 - Unknown Giada Tortora +/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907098G>T - TGFBR1_000022 - De novo Giada Tortora +/+ 6 c.1058G>T r.(?) p.(Gly353Val)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911534C>T - TGFBR1_000023 - Unknown Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907038A>G - TGFBR1_000024 - De novo Giada Tortora +/+ 6 c.998A>G r.(?) p.(Asp333Gly)
TGFBR1 NM_004612.2 9 Unknown Deletion g.101900248_101900250delGAA - TGFBR1_000025 - De novo Giada Tortora +/+ 4 c.682_684delGAA r.(?) p.(Glu228del)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900255C>A - TGFBR1_000026 - De novo Giada Tortora +/+ 4 c.689C>A r.(?) p.(Ala230Asp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907091G>T - TGFBR1_000027 - De novo Giada Tortora +/+ 6 c.1051G>T r.(?) p.(Asp351Tyr)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911508A>G - TGFBR1_000028 - Unknown Giada Tortora +/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900355A>G - TGFBR1_000029 - Unknown Giada Tortora +/+ 4 c.789A>G r.(?) p.(Ile263Met)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>C - TGFBR1_000030 - Unknown Giada Tortora +/+ 9 c.1460G>C r.(?) p.(Arg487Pro)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000031 - Unknown Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900266T>C - TGFBR1_000032 - De novo Giada Tortora +/+ 4 c.700T>C r.(?) p.(Phe234Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900347G>A - TGFBR1_000033 - Unknown Giada Tortora +/+ 4 c.781G>A r.(?) p.(Gly261Arg)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911534C>T - TGFBR1_000034 - De novo Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900268C>G - TGFBR1_000035 - Unknown Giada Tortora +/+ 4 c.702C>G r.(?) p.(Phe234Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911508A>G - TGFBR1_000019 - Unknown Giada Tortora +/+ 9 c.1433A>G r.(?) p.(Asn478Ser)
TGFBR1 NM_004612.2 9 Unknown Deletion g.101900248_101900250delGAA - TGFBR1_000036 - De novo Giada Tortora +/+ 4 c.682_684delGAA r.(?) p.(Glu228del)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900236T>G - TGFBR1_000037 - Unknown Giada Tortora +/+ 4 c.670T>G r.(?) p.(Trp224Gly)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907101T>C - TGFBR1_000038 - De novo Giada Tortora +/+ 6 c.1061T>C r.(?) p.(Leu354Pro)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907161G>A - TGFBR1_000039 - De novo Giada Tortora +/+ 6 c.1121G>A r.(?) p.(Gly374Glu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000040 - De novo Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907098G>T - TGFBR1_000022 - De novo Giada Tortora +/+ 6 c.1058G>T r.(?) p.(Gly353Val)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911534C>T - TGFBR1_000041 - Germline (inherited) Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900288C>T - TGFBR1_000042 - De novo Giada Tortora +/+ 4 c.722C>T r.(?) p.(Ser241Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911534C>T - TGFBR1_000043 - Germline (inherited) Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Paternal (confirmed) Substitution g.101911534C>T - TGFBR1_000044 - Germline (inherited) Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900216G>T - TGFBR1_000002 - Unknown Giada Tortora +/+ 4 c.650G>T r.(?) p.(Gly217Val)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000045 - De novo Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900288C>T - TGFBR1_000046 - De novo Giada Tortora +/+ 4 c.722C>T r.(?) p.(Ser241Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900288C>T - TGFBR1_000047 - De novo Giada Tortora +/+ 4 c.722C>T r.(?) p.(Ser241Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900288C>T - TGFBR1_000010 - Unknown Giada Tortora +/+ 4 c.722C>T r.(?) p.(Ser241Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900365A>C - TGFBR1_000048 - Unknown Giada Tortora +/+ 4 c.799A>C r.(?) p.(Asn267His)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000049 - Unknown Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900325G>A - TGFBR1_000050 - Germline (inherited) Giada Tortora +/+ 4 c.759G>A r.(?) p.(Met253Ile)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900325G>A - TGFBR1_000051 - Germline (inherited) Giada Tortora +/+ 4 c.759G>A r.(?) p.(Met253Ile)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900325G>A - TGFBR1_000052 - Germline (inherited) Giada Tortora +/+ 4 c.759G>A r.(?) p.(Met253Ile)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101904946G>A - TGFBR1_000053 - Unknown Giada Tortora +/+ 5 c.934G>A r.(?) p.(Gly312Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101908771A>G - TGFBR1_000054 - Unknown Giada Tortora +/+ 7 c.1135A>G r.(?) p.(Met379Val)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000055 - Unknown Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101894968G>T - TGFBR1_000056 - Unknown Giada Tortora +/+ 3 c.521G>T r.(?) p.(Gly174Val)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000057 - Unknown Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907091G>C - TGFBR1_000058 - De novo Giada Tortora +/+ 6 c.1051G>C r.(?) p.(Asp351His)
TGFBR1 NM_004612.2 9 Unknown Deletion g.101900248_101900250delGAA - TGFBR1_000025 - De novo Giada Tortora +/+ 4 c.682_684delGAA r.(?) p.(Glu228del)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900288C>T - TGFBR1_000059 - De novo Giada Tortora +/+ 4 c.722C>T r.(?) p.(Ser241Leu)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900300A>G - TGFBR1_000060 - De novo Giada Tortora +/+ 4 c.734A>G r.(?) p.(Glu245Gly)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900218G>A - TGFBR1_000061 - Germline (inherited) Giada Tortora +/+ 4 c.652G>A r.(?) p.(Glu218Lys)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907043A>C - TGFBR1_000062 - De novo Giada Tortora +/+ 6 c.1003A>C r.(?) p.(Lys335Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900325G>A - TGFBR1_000063 - Germline (inherited) Giada Tortora +/+ 4 c.759G>A r.(?) p.(Met253Ile)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911534C>T - TGFBR1_000003 - Unknown Giada Tortora +/+ 9 c.1459C>T r.(?) p.(Arg487Trp)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911532T>C - TGFBR1_000064 - Germline (inherited) Giada Tortora +/+ 9 c.1457T>C r.(?) p.(Leu486Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101904956A>G - TGFBR1_000065 - Unknown Giada Tortora +/+ 5 c.944A>G r.(?) p.(His315Arg)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101904946G>A - TGFBR1_000066 - Unknown Giada Tortora +/+ 5 c.934G>A r.(?) p.(Gly312Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora +/+ 5 c.934G>A r.(?) p.(Gly312Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907043A>C - TGFBR1_000067 - Unknown Giada Tortora +/+ 6 c.1003A>C r.(?) p.(Lys335Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907043A>C - TGFBR1_000018 - De novo Giada Tortora +/+ 6 c.1003A>C r.(?) p.(Lys335Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900164A>C - TGFBR1_000068 - De novo Giada Tortora +/+ 4 c.598A>C r.(?) p.(Thr200Pro)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101904833C>G - TGFBR1_000069 - Unknown Giada Tortora +/+ 4 c.821C>G r.(?) p.(Thr274Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101904833C>G - TGFBR1_000069 - Unknown Giada Tortora +/+ 4 c.821C>G r.(?) p.(Thr274Ser)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900325G>A - TGFBR1_000050 - Unknown Giada Tortora +/+ 4 c.759G>A r.(?) p.(Met253Ile)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900215G>A - TGFBR1_000070 - De novo Giada Tortora +/+ 4 c.649G>A r.(?) p.(Gly217Arg)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000071 - De novo Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907092A>G - TGFBR1_000072 - De novo Giada Tortora +/+ 6 c.1052A>G r.(?) p.(Asp351Gly)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900362G>T - TGFBR1_000073 - De novo Giada Tortora +/+ 4 c.796G>T r.(?) p.(Asp266Tyr)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101911535G>A - TGFBR1_000011 - De novo Giada Tortora +/+ 9 c.1460G>A r.(?) p.(Arg487Gln)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101907164C>T - TGFBR1_000074 - De novo Giada Tortora +/+ 6 c.1124C>T r.(?) p.(Thr375Ile)
TGFBR1 NM_004612.2 9 Unknown Substitution g.101900325G>A - TGFBR1_000050 - Unknown Giada Tortora +/+ 4 c.759G>A r.(?) p.(Met253Ile)
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