View unique variants in TGFBR2

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Genetic origin     

Owner     
+/+ 1 2 c.118G>A r.(?) p.(Asp40Asn) Substitution g.30664714G>A - TGFBR2_000098 - Unknown Giada Tortora
+/+ 1 2 c.166C>A r.(?) p.(His56Asn) Substitution g.30664762C>A - TGFBR2_000097 - Unknown Giada Tortora
./. 1 5 c.905A>G r.(?) p.(Lys302Arg) Substitution g.30713505A>G - TGFBR2_000117 - Unknown Giada Tortora
./. 2 5, 4 c.1142G>C r.(?) p.(Arg381Pro) Substitution g.30713742G>C - TGFBR2_000047 - De novo, Germline (inherited) Giada Tortora
./. 1 5 c.1214T>G r.(?) p.(Leu405Arg) Substitution g.30713814T>G - TGFBR2_000115 - De novo Giada Tortora
./. 1 5 c.1268T>C r.(?) p.(Phe423Ser) Substitution g.30713868T>C - TGFBR2_000113 - Unknown Giada Tortora
+/+ 1 5 c.1270G>C r.(?) p.(Gly424Arg) Substitution g.30713870G>C - TGFBR2_000028 - Unknown Giada Tortora
./. 1 8 c.1546_1557del r.(?) p.(Val516_Asp519del) Deletion g.30729950_30729961del - TGFBR2_000109 - De novo Giada Tortora
./. 1 8 c.1613T>C r.(?) p.(Val538Ala) Substitution g.30732925T>C - TGFBR2_000116 - De novo Giada Tortora
./. 1 8 c.1639G>C r.(?) p.(Asp547His) Substitution g.30732951G>C - TGFBR2_000108 - De novo Giada Tortora
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