View all transcript variants in gene TGFBR1

Information The variants shown are described using the NM_004612.2 transcript reference sequence.

133 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Genetic origin     

Owner     
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) Substitution g.101911508A>G - TGFBR1_000028 - Unknown Giada Tortora
+/+ 3 c.521G>T r.(?) p.(Gly174Val) Substitution g.101894968G>T - TGFBR1_000056 - Unknown Giada Tortora
+/+ 4 c.598A>C r.(?) p.(Thr200Pro) Substitution g.101900164A>C - TGFBR1_000068 - De novo Giada Tortora
./. 4 c.598A>C r.(?) p.(Thr200Pro) Substitution g.101900164A>C - TGFBR1_000068 - De novo Giada Tortora
+/+ 4 c.605C>T r.(?) p.(Ala202Val) Substitution g.101900171C>T - TGFBR1_000006 - De novo Giada Tortora
./. 4 c.605C>T r.(?) p.(Ala202Val) Substitution g.101900171C>T - TGFBR1_000006 - Unknown Giada Tortora
./. 4 c.605C>T r.(?) p.(Ala202Val) Substitution g.101900171C>T - TGFBR1_000006 - Germline (inherited) Giada Tortora
./. 4 c.605C>T r.(?) p.(Ala202Val) Substitution g.101900171C>T - TGFBR1_000006 - Unknown Giada Tortora
./. 4 c.605C>T r.(?) p.(Ala202Val) Substitution g.101900171C>T - TGFBR1_000006 - Germline (inherited) Giada Tortora
+/+ 4 c.649G>A r.(?) p.(Gly217Arg) Substitution g.101900215G>A - TGFBR1_000070 - De novo Giada Tortora
+/+ 4 c.650G>T r.(?) p.(Gly217Val) Substitution g.101900216G>T - TGFBR1_000002 - Unknown Giada Tortora
+/+ 4 c.652G>A r.(?) p.(Glu218Lys) Substitution g.101900218G>A - TGFBR1_000061 - Germline (inherited) Giada Tortora
+/+ 4 c.670T>G r.(?) p.(Trp224Gly) Substitution g.101900236T>G - TGFBR1_000037 - Unknown Giada Tortora
./. 4 c.676G>A r.(?) p.(Gly226Arg) Substitution g.101900242G>A - TGFBR1_000078 - Unknown Giada Tortora
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del) Deletion g.101900248_101900250delGAA - TGFBR1_000025 - De novo Giada Tortora
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del) Deletion g.101900248_101900250delGAA - TGFBR1_000036 - De novo Giada Tortora
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del) Deletion g.101900248_101900250delGAA - TGFBR1_000025 - De novo Giada Tortora
./. 4 c.683_685delAAG r.(?) p.(Glu228del) Deletion g.101900249_101900251delAAG - TGFBR1_000077 - De novo Giada Tortora
+/+ 4 c.685G>C r.(?) p.(Val229Leu) Substitution g.101900251G>C - TGFBR1_000007 - Unknown Giada Tortora
+/+ 4 c.689C>A r.(?) p.(Ala230Asp) Substitution g.101900255C>A - TGFBR1_000026 - De novo Giada Tortora
+/+ 4 c.700T>C r.(?) p.(Phe234Leu) Substitution g.101900266T>C - TGFBR1_000032 - De novo Giada Tortora
+/+ 4 c.702C>G r.(?) p.(Phe234Leu) Substitution g.101900268C>G - TGFBR1_000035 - Unknown Giada Tortora
./. 4 c.702C>G r.(?) p.(Phe234Leu) Substitution g.101900268C>G - TGFBR1_000035 - Unknown Giada Tortora
./. 4 c.702C>G r.(?) p.(Phe234Leu) Substitution g.101900268C>G - TGFBR1_000035 - Germline (inherited) Giada Tortora
./. 4 c.702C>G r.(?) p.(Phe234Leu) Substitution g.101900268C>G - TGFBR1_000035 - Unknown Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000010 - Unknown Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000015 - De novo Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000042 - De novo Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000046 - De novo Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000047 - De novo Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000010 - Unknown Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000059 - De novo Giada Tortora
./. 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000010 - Unknown Giada Tortora
./. 4 c.722C>T r.(?) p.(Ser241Leu) Substitution g.101900288C>T - TGFBR1_000010 - Unknown Giada Tortora
+/+ 4 c.734A>G r.(?) p.(Glu245Gly) Substitution g.101900300A>G - TGFBR1_000060 - De novo Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) Substitution g.101900325G>A - TGFBR1_000050 - Germline (inherited) Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) Substitution g.101900325G>A - TGFBR1_000051 - Germline (inherited) Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) Substitution g.101900325G>A - TGFBR1_000052 - Germline (inherited) Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) Substitution g.101900325G>A - TGFBR1_000063 - Germline (inherited) Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) Substitution g.101900325G>A - TGFBR1_000050 - Unknown Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) Substitution g.101900325G>A - TGFBR1_000050 - Unknown Giada Tortora
+/+ 4 c.781G>A r.(?) p.(Gly261Arg) Substitution g.101900347G>A - TGFBR1_000033 - Unknown Giada Tortora
+/+ 4 c.789A>G r.(?) p.(Ile263Met) Substitution g.101900355A>G - TGFBR1_000029 - Unknown Giada Tortora
+/+ 4 c.796G>T r.(?) p.(Asp266Tyr) Substitution g.101900362G>T - TGFBR1_000073 - De novo Giada Tortora
+/+ 4 c.797A>G r.(?) p.(Asp266Gly) Substitution g.101900363A>G - TGFBR1_000009 - Unknown Giada Tortora
+/+ 4 c.799A>C r.(?) p.(Asn267His) Substitution g.101900365A>C - TGFBR1_000048 - Unknown Giada Tortora
+/+ 4 c.821C>G r.(?) p.(Thr274Ser) Substitution g.101904833C>G - TGFBR1_000069 - Unknown Giada Tortora
+/+ 4 c.821C>G r.(?) p.(Thr274Ser) Substitution g.101904833C>G - TGFBR1_000069 - Unknown Giada Tortora
./. 5 c.844T>C r.(?) p.(Tyr282His) Substitution g.101904856T>C - TGFBR1_000076 - Germline (inherited) Giada Tortora
./. 5 c.844T>C r.(?) p.(Tyr282His) Substitution g.101904856T>C - TGFBR1_000076 - Unknown Giada Tortora
./. 5 c.844T>C r.(?) p.(Tyr282His) Substitution g.101904856T>C - TGFBR1_000076 - Germline (inherited) Giada Tortora
./. 5 c.848A>C r.(?) p.(His283Pro) Substitution g.101904860A>C - TGFBR1_000075 - Germline (inherited) Giada Tortora
+/+ 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Unknown Giada Tortora
+/+ 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000066 - Unknown Giada Tortora
+/+ 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Unknown Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) Giada Tortora
+/+ 5 c.944A>G r.(?) p.(His315Arg) Substitution g.101904956A>G - TGFBR1_000065 - Unknown Giada Tortora
+/+ 6 c.998A>G r.(?) p.(Asp333Gly) Substitution g.101907038A>G - TGFBR1_000024 - De novo Giada Tortora
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln) Substitution g.101907043A>C - TGFBR1_000018 - Unknown Giada Tortora
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln) Substitution g.101907043A>C - TGFBR1_000062 - De novo Giada Tortora
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln) Substitution g.101907043A>C - TGFBR1_000067 - Unknown Giada Tortora
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln) Substitution g.101907043A>C - TGFBR1_000018 - De novo Giada Tortora
+/+ 6 c.1013A>G r.(?) p.(Asn338Ser) Substitution g.101907053A>G - TGFBR1_000004 - De novo Giada Tortora
+/+ 6 c.1051G>C r.(?) p.(Asp351His) Substitution g.101907091G>C - TGFBR1_000058 - De novo Giada Tortora
+/+ 6 c.1051G>T r.(?) p.(Asp351Tyr) Substitution g.101907091G>T - TGFBR1_000027 - De novo Giada Tortora
+/+ 6 c.1052A>G r.(?) p.(Asp351Gly) Substitution g.101907092A>G - TGFBR1_000072 - De novo Giada Tortora
+/+ 6 c.1058G>T r.(?) p.(Gly353Val) Substitution g.101907098G>T - TGFBR1_000022 - De novo Giada Tortora
+/+ 6 c.1058G>T r.(?) p.(Gly353Val) Substitution g.101907098G>T - TGFBR1_000022 - De novo Giada Tortora
+/+ 6 c.1061T>C r.(?) p.(Leu354Pro) Substitution g.101907101T>C - TGFBR1_000038 - De novo Giada Tortora
+/+ 6 c.1121G>A r.(?) p.(Gly374Glu) Substitution g.101907161G>A - TGFBR1_000039 - De novo Giada Tortora
+/+ 6 c.1124C>T r.(?) p.(Thr375Ile) Substitution g.101907164C>T - TGFBR1_000074 - De novo Giada Tortora
+/+ 7 c.1135A>G r.(?) p.(Met379Val) Substitution g.101908771A>G - TGFBR1_000054 - Unknown Giada Tortora
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) Substitution g.101911508A>G - TGFBR1_000019 - Germline (inherited) Giada Tortora
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) Substitution g.101911508A>G - TGFBR1_000020 - Unknown Giada Tortora
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) Substitution g.101911508A>G - TGFBR1_000021 - Unknown Giada Tortora
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) Substitution g.101911508A>G - TGFBR1_000019 - Unknown Giada Tortora
+/+ 9 c.1457T>C r.(?) p.(Leu486Ser) Substitution g.101911532T>C - TGFBR1_000064 - Germline (inherited) Giada Tortora
+/+ 9 c.1457T>G r.(?) p.(Leu486Trp) Substitution g.101911532T>G - TGFBR1_000017 - Unknown Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000003 - Unknown Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000016 - Unknown Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000023 - Unknown Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000034 - De novo Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000041 - Germline (inherited) Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000043 - Germline (inherited) Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000044 - Germline (inherited) Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000003 - Unknown Giada Tortora
./. 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000003 - Germline (inherited) Giada Tortora
./. 9 c.1459C>T r.(?) p.(Arg487Trp) Substitution g.101911534C>T - TGFBR1_000003 - Germline (inherited) Giada Tortora
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