UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672039T>A | CA351808021 | TGFBR2 | c.856T>A (p.Ser286Thr) n.2452T>A c.931T>A (p.Ser311Thr) c.883T>A (p.Ser295Thr) c.808T>A (p.Ser270Thr) c.751T>A (p.Ser251Thr) | dbSNP |
| 3 | g.30672039T>C | CA351808022 | TGFBR2 | c.856T>C (p.Ser286Pro) n.2452T>C c.931T>C (p.Ser311Pro) c.883T>C (p.Ser295Pro) c.808T>C (p.Ser270Pro) c.751T>C (p.Ser251Pro) | dbSNP |
| 3 | g.30672039T>G | CA351808023 | TGFBR2 | c.856T>G (p.Ser286Ala) n.2452T>G c.931T>G (p.Ser311Ala) c.883T>G (p.Ser295Ala) c.808T>G (p.Ser270Ala) c.751T>G (p.Ser251Ala) | |
| 3 | g.30672040C>A | CA351808024 | TGFBR2 | c.857C>A (p.Ser286Tyr) n.2453C>A c.932C>A (p.Ser311Tyr) c.884C>A (p.Ser295Tyr) c.809C>A (p.Ser270Tyr) c.752C>A (p.Ser251Tyr) | dbSNP |
| 3 | g.30672040C>G | CA351808025 | TGFBR2 | c.857C>G (p.Ser286Cys) n.2453C>G c.932C>G (p.Ser311Cys) c.884C>G (p.Ser295Cys) c.809C>G (p.Ser270Cys) c.752C>G (p.Ser251Cys) | dbSNP |
| 3 | g.30672040C>T | CA351808026 | TGFBR2 | c.857C>T (p.Ser286Phe) n.2453C>T c.932C>T (p.Ser311Phe) c.884C>T (p.Ser295Phe) c.809C>T (p.Ser270Phe) c.752C>T (p.Ser251Phe) | dbSNP |
| 3 | g.30672041T>A | CA433058836 | TGFBR2 | c.858T>A (p.Ser286=) n.2454T>A c.933T>A (p.Ser311=) c.885T>A (p.Ser295=) c.810T>A (p.Ser270=) c.753T>A (p.Ser251=) | dbSNP |
| 3 | g.30672041T>C | CA433058835 | TGFBR2 | c.858T>C (p.Ser286=) n.2454T>C c.933T>C (p.Ser311=) c.885T>C (p.Ser295=) c.810T>C (p.Ser270=) c.753T>C (p.Ser251=) | dbSNP gnomAD v4 |
| 3 | g.30672041T>G | CA433058832 | TGFBR2 | c.858T>G (p.Ser286=) n.2454T>G c.933T>G (p.Ser311=) c.885T>G (p.Ser295=) c.810T>G (p.Ser270=) c.753T>G (p.Ser251=) | |
| 3 | g.30672042dup | CA2664867666 | TGFBR2 | c.859dup (p.Trp287LeufsTer16) n.2455dup c.934dup (p.Trp312LeufsTer16) c.886dup (p.Trp296LeufsTer16) c.811dup (p.Trp271LeufsTer16) c.754dup (p.Trp252LeufsTer16) | ClinVar gnomAD v4 |
| 3 | g.30672042T>A | CA351808027 | TGFBR2 | c.859T>A (p.Trp287Arg) n.2455T>A c.934T>A (p.Trp312Arg) c.886T>A (p.Trp296Arg) c.811T>A (p.Trp271Arg) c.754T>A (p.Trp252Arg) | |
| 3 | g.30672042T>C | CA020788 | TGFBR2 | c.859T>C (p.Trp287Arg) n.2455T>C c.934T>C (p.Trp312Arg) c.886T>C (p.Trp296Arg) c.811T>C (p.Trp271Arg) c.754T>C (p.Trp252Arg) | ClinVar dbSNP |
| 3 | g.30672042T>G | CA351808028 | TGFBR2 | c.859T>G (p.Trp287Gly) n.2455T>G c.934T>G (p.Trp312Gly) c.886T>G (p.Trp296Gly) c.811T>G (p.Trp271Gly) c.754T>G (p.Trp252Gly) | |
| 3 | g.30672042T= | CA1354873103 | TGFBR2 | c.859T= (p.Trp287=) n.2455T= c.934T= (p.Trp312=) c.886T= (p.Trp296=) c.811T= (p.Trp271=) c.754T= (p.Trp252=) | |
| 3 | g.30672043G>A | CA351808029 | TGFBR2 | c.860G>A (p.Trp287Ter) n.2456G>A c.935G>A (p.Trp312Ter) c.887G>A (p.Trp296Ter) c.812G>A (p.Trp271Ter) c.755G>A (p.Trp252Ter) | gnomAD v4 |
| 3 | g.30672043G>C | CA351808030 | TGFBR2 | c.860G>C (p.Trp287Ser) n.2456G>C c.935G>C (p.Trp312Ser) c.887G>C (p.Trp296Ser) c.812G>C (p.Trp271Ser) c.755G>C (p.Trp252Ser) | ClinVar dbSNP |
| 3 | g.30672043G>T | CA351808031 | TGFBR2 | c.860G>T (p.Trp287Leu) n.2456G>T c.935G>T (p.Trp312Leu) c.887G>T (p.Trp296Leu) c.812G>T (p.Trp271Leu) c.755G>T (p.Trp252Leu) | dbSNP |
| 3 | g.30672044G>A | CA351808032 | TGFBR2 | c.861G>A (p.Trp287Ter) n.2457G>A c.936G>A (p.Trp312Ter) c.888G>A (p.Trp296Ter) c.813G>A (p.Trp271Ter) c.756G>A (p.Trp252Ter) | dbSNP COSMIC COSMIC |
| 3 | g.30672044G>C | CA351808033 | TGFBR2 | c.861G>C (p.Trp287Cys) n.2457G>C c.936G>C (p.Trp312Cys) c.888G>C (p.Trp296Cys) c.813G>C (p.Trp271Cys) c.756G>C (p.Trp252Cys) | dbSNP |
| 3 | g.30672044G>T | CA351808034 | TGFBR2 | c.861G>T (p.Trp287Cys) n.2457G>T c.936G>T (p.Trp312Cys) c.888G>T (p.Trp296Cys) c.813G>T (p.Trp271Cys) c.756G>T (p.Trp252Cys) | dbSNP |
| 3 | g.30672048_30672056del | CA923726378 | TGFBR2 | c.865_873del (p.Thr289_Lys291del) n.2461_2469del c.940_948del (p.Thr314_Lys316del) c.892_900del (p.Thr298_Lys300del) c.817_825del (p.Thr273_Lys275del) c.760_768del (p.Thr254_Lys256del) | |
| 3 | g.30672045A>C | CA351808035 | TGFBR2 | c.862A>C (p.Lys288Gln) n.2458A>C c.937A>C (p.Lys313Gln) c.889A>C (p.Lys297Gln) c.814A>C (p.Lys272Gln) c.757A>C (p.Lys253Gln) | |
| 3 | g.30672045A>G | CA351808036 | TGFBR2 | c.862A>G (p.Lys288Glu) n.2458A>G c.937A>G (p.Lys313Glu) c.889A>G (p.Lys297Glu) c.814A>G (p.Lys272Glu) c.757A>G (p.Lys253Glu) | |
| 3 | g.30672045A>T | CA351808037 | TGFBR2 | c.862A>T (p.Lys288Ter) n.2458A>T c.937A>T (p.Lys313Ter) c.889A>T (p.Lys297Ter) c.814A>T (p.Lys272Ter) c.757A>T (p.Lys253Ter) | dbSNP |
| 3 | g.30672046A>C | CA351808038 | TGFBR2 | c.863A>C (p.Lys288Thr) n.2459A>C c.938A>C (p.Lys313Thr) c.890A>C (p.Lys297Thr) c.815A>C (p.Lys272Thr) c.758A>C (p.Lys253Thr) | |
| 3 | g.30672046A>G | CA351808039 | TGFBR2 | c.863A>G (p.Lys288Arg) n.2459A>G c.938A>G (p.Lys313Arg) c.890A>G (p.Lys297Arg) c.815A>G (p.Lys272Arg) c.758A>G (p.Lys253Arg) | |
| 3 | g.30672046A>T | CA351808040 | TGFBR2 | c.863A>T (p.Lys288Met) n.2459A>T c.938A>T (p.Lys313Met) c.890A>T (p.Lys297Met) c.815A>T (p.Lys272Met) c.758A>T (p.Lys253Met) | dbSNP |
| 3 | g.30672047G>A | CA433058840 | TGFBR2 | c.864G>A (p.Lys288=) n.2460G>A c.939G>A (p.Lys313=) c.891G>A (p.Lys297=) c.816G>A (p.Lys272=) c.759G>A (p.Lys253=) | dbSNP |
| 3 | g.30672047G>C | CA351808041 | TGFBR2 | c.864G>C (p.Lys288Asn) n.2460G>C c.939G>C (p.Lys313Asn) c.891G>C (p.Lys297Asn) c.816G>C (p.Lys272Asn) c.759G>C (p.Lys253Asn) | dbSNP |
| 3 | g.30672047G>T | CA351808042 | TGFBR2 | c.864G>T (p.Lys288Asn) n.2460G>T c.939G>T (p.Lys313Asn) c.891G>T (p.Lys297Asn) c.816G>T (p.Lys272Asn) c.759G>T (p.Lys253Asn) | |
| 3 | g.30672048A>C | CA351808043 | TGFBR2 | c.865A>C (p.Thr289Pro) n.2461A>C c.940A>C (p.Thr314Pro) c.892A>C (p.Thr298Pro) c.817A>C (p.Thr273Pro) c.760A>C (p.Thr254Pro) | |
| 3 | g.30672048A>G | CA351808044 | TGFBR2 | c.865A>G (p.Thr289Ala) n.2461A>G c.940A>G (p.Thr314Ala) c.892A>G (p.Thr298Ala) c.817A>G (p.Thr273Ala) c.760A>G (p.Thr254Ala) | dbSNP |
| 3 | g.30672048A>T | CA351808045 | TGFBR2 | c.865A>T (p.Thr289Ser) n.2461A>T c.940A>T (p.Thr314Ser) c.892A>T (p.Thr298Ser) c.817A>T (p.Thr273Ser) c.760A>T (p.Thr254Ser) | dbSNP |
| 3 | g.30672049C>A | CA351808046 | TGFBR2 | c.866C>A (p.Thr289Lys) n.2462C>A c.941C>A (p.Thr314Lys) c.893C>A (p.Thr298Lys) c.818C>A (p.Thr273Lys) c.761C>A (p.Thr254Lys) | |
| 3 | g.30672049C>G | CA351808047 | TGFBR2 | c.866C>G (p.Thr289Arg) n.2462C>G c.941C>G (p.Thr314Arg) c.893C>G (p.Thr298Arg) c.818C>G (p.Thr273Arg) c.761C>G (p.Thr254Arg) | dbSNP |
| 3 | g.30672049C>T | CA351808048 | TGFBR2 | c.866C>T (p.Thr289Ile) n.2462C>T c.941C>T (p.Thr314Ile) c.893C>T (p.Thr298Ile) c.818C>T (p.Thr273Ile) c.761C>T (p.Thr254Ile) | dbSNP |
| 3 | g.30672050A>C | CA433058841 | TGFBR2 | c.867A>C (p.Thr289=) n.2463A>C c.942A>C (p.Thr314=) c.894A>C (p.Thr298=) c.819A>C (p.Thr273=) c.762A>C (p.Thr254=) | |
| 3 | g.30672050A>G | CA433058842 | TGFBR2 | c.867A>G (p.Thr289=) n.2463A>G c.942A>G (p.Thr314=) c.894A>G (p.Thr298=) c.819A>G (p.Thr273=) c.762A>G (p.Thr254=) | dbSNP |
| 3 | g.30672050A>T | CA433058843 | TGFBR2 | c.867A>T (p.Thr289=) n.2463A>T c.942A>T (p.Thr314=) c.894A>T (p.Thr298=) c.819A>T (p.Thr273=) c.762A>T (p.Thr254=) | dbSNP |
| 3 | g.30672051G>A | CA351808051 | TGFBR2 | c.868G>A (p.Glu290Lys) n.2464G>A c.943G>A (p.Glu315Lys) c.895G>A (p.Glu299Lys) c.820G>A (p.Glu274Lys) c.763G>A (p.Glu255Lys) | COSMIC COSMIC |
| 3 | g.30672051G>C | CA351808049 | TGFBR2 | c.868G>C (p.Glu290Gln) n.2464G>C c.943G>C (p.Glu315Gln) c.895G>C (p.Glu299Gln) c.820G>C (p.Glu274Gln) c.763G>C (p.Glu255Gln) | dbSNP |
| 3 | g.30672051G>T | CA351808050 | TGFBR2 | c.868G>T (p.Glu290Ter) n.2464G>T c.943G>T (p.Glu315Ter) c.895G>T (p.Glu299Ter) c.820G>T (p.Glu274Ter) c.763G>T (p.Glu255Ter) | dbSNP |
| 3 | g.30672051_30672054delinsGAGA | CA1354873104 | TGFBR2 | c.868_871delinsGAGA (p.Glu290=) n.2464_2467delinsGAGA c.943_946delinsGAGA (p.Glu315=) c.895_898delinsGAGA (p.Glu299=) c.820_823delinsGAGA (p.Glu274=) c.763_766delinsGAGA (p.Glu255=) | |
| 3 | g.30672052A= | CA1354873105 | TGFBR2 | c.869A= (p.Glu290=) n.2465A= c.944A= (p.Glu315=) c.896A= (p.Glu299=) c.821A= (p.Glu274=) c.764A= (p.Glu255=) | |
| 3 | g.30672052A>C | CA351808052 | TGFBR2 | c.869A>C (p.Glu290Ala) n.2465A>C c.944A>C (p.Glu315Ala) c.896A>C (p.Glu299Ala) c.821A>C (p.Glu274Ala) c.764A>C (p.Glu255Ala) | |
| 3 | g.30672052A>G | CA351808053 | TGFBR2 | c.869A>G (p.Glu290Gly) n.2465A>G c.944A>G (p.Glu315Gly) c.896A>G (p.Glu299Gly) c.821A>G (p.Glu274Gly) c.764A>G (p.Glu255Gly) | ClinVar dbSNP |
| 3 | g.30672052A>T | CA351808054 | TGFBR2 | c.869A>T (p.Glu290Val) n.2465A>T c.944A>T (p.Glu315Val) c.896A>T (p.Glu299Val) c.821A>T (p.Glu274Val) c.764A>T (p.Glu255Val) | dbSNP |
| 3 | g.30672054_30672056del | CA645535105 | TGFBR2 | c.871_873del (p.Lys291del) n.2467_2469del c.946_948del (p.Lys316del) c.898_900del (p.Lys300del) c.823_825del (p.Lys275del) c.766_768del (p.Lys256del) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672053G>A | CA433058845 | TGFBR2 | c.870G>A (p.Glu290=) n.2466G>A c.945G>A (p.Glu315=) c.897G>A (p.Glu299=) c.822G>A (p.Glu274=) c.765G>A (p.Glu255=) | |
| 3 | g.30672053G>C | CA351808055 | TGFBR2 | c.870G>C (p.Glu290Asp) n.2466G>C c.945G>C (p.Glu315Asp) c.897G>C (p.Glu299Asp) c.822G>C (p.Glu274Asp) c.765G>C (p.Glu255Asp) | |
| 3 | g.30672053G>T | CA351808056 | TGFBR2 | c.870G>T (p.Glu290Asp) n.2466G>T c.945G>T (p.Glu315Asp) c.897G>T (p.Glu299Asp) c.822G>T (p.Glu274Asp) c.765G>T (p.Glu255Asp) | |
| 3 | g.30672054A>C | CA351808059 | TGFBR2 | c.871A>C (p.Lys291Gln) n.2467A>C c.946A>C (p.Lys316Gln) c.898A>C (p.Lys300Gln) c.823A>C (p.Lys275Gln) c.766A>C (p.Lys256Gln) | |
| 3 | g.30672054A>G | CA351808057 | TGFBR2 | c.871A>G (p.Lys291Glu) n.2467A>G c.946A>G (p.Lys316Glu) c.898A>G (p.Lys300Glu) c.823A>G (p.Lys275Glu) c.766A>G (p.Lys256Glu) | |
| 3 | g.30672054A>T | CA351808058 | TGFBR2 | c.871A>T (p.Lys291Ter) n.2467A>T c.946A>T (p.Lys316Ter) c.898A>T (p.Lys300Ter) c.823A>T (p.Lys275Ter) c.766A>T (p.Lys256Ter) | dbSNP |
| 3 | g.30672055A>C | CA351808060 | TGFBR2 | c.872A>C (p.Lys291Thr) n.2468A>C c.947A>C (p.Lys316Thr) c.899A>C (p.Lys300Thr) c.824A>C (p.Lys275Thr) c.767A>C (p.Lys256Thr) | |
| 3 | g.30672055A>G | CA351808061 | TGFBR2 | c.872A>G (p.Lys291Arg) n.2468A>G c.947A>G (p.Lys316Arg) c.899A>G (p.Lys300Arg) c.824A>G (p.Lys275Arg) c.767A>G (p.Lys256Arg) | |
| 3 | g.30672055A>T | CA351808062 | TGFBR2 | c.872A>T (p.Lys291Met) n.2468A>T c.947A>T (p.Lys316Met) c.899A>T (p.Lys300Met) c.824A>T (p.Lys275Met) c.767A>T (p.Lys256Met) | dbSNP |
| 3 | g.30672056G>A | CA433058851 | TGFBR2 | c.873G>A (p.Lys291=) n.2469G>A c.948G>A (p.Lys316=) c.900G>A (p.Lys300=) c.825G>A (p.Lys275=) c.768G>A (p.Lys256=) | |
| 3 | g.30672056G>C | CA351808063 | TGFBR2 | c.873G>C (p.Lys291Asn) n.2469G>C c.948G>C (p.Lys316Asn) c.900G>C (p.Lys300Asn) c.825G>C (p.Lys275Asn) c.768G>C (p.Lys256Asn) | |
| 3 | g.30672056G>T | CA351808064 | TGFBR2 | c.873G>T (p.Lys291Asn) n.2469G>T c.948G>T (p.Lys316Asn) c.900G>T (p.Lys300Asn) c.825G>T (p.Lys275Asn) c.768G>T (p.Lys256Asn) | |
| 3 | g.30672057del | CA2664867667 | TGFBR2 | c.874del (p.Asp292ThrfsTer8) n.2470del c.949del (p.Asp317ThrfsTer8) c.901del (p.Asp301ThrfsTer8) c.826del (p.Asp276ThrfsTer8) c.769del (p.Asp257ThrfsTer8) | gnomAD v4 |
| 3 | g.30672057G>A | CA351808065 | TGFBR2 | c.874G>A (p.Asp292Asn) n.2470G>A c.949G>A (p.Asp317Asn) c.901G>A (p.Asp301Asn) c.826G>A (p.Asp276Asn) c.769G>A (p.Asp257Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672057G>C | CA351808066 | TGFBR2 | c.874G>C (p.Asp292His) n.2470G>C c.949G>C (p.Asp317His) c.901G>C (p.Asp301His) c.826G>C (p.Asp276His) c.769G>C (p.Asp257His) | dbSNP |
| 3 | g.30672057G= | CA1354873106 | TGFBR2 | c.874G= (p.Asp292=) n.2470G= c.949G= (p.Asp317=) c.901G= (p.Asp301=) c.826G= (p.Asp276=) c.769G= (p.Asp257=) | |
| 3 | g.30672057G>T | CA351808067 | TGFBR2 | c.874G>T (p.Asp292Tyr) n.2470G>T c.949G>T (p.Asp317Tyr) c.901G>T (p.Asp301Tyr) c.826G>T (p.Asp276Tyr) c.769G>T (p.Asp257Tyr) | dbSNP |
| 3 | g.30672058A>C | CA351808068 | TGFBR2 | c.875A>C (p.Asp292Ala) n.2471A>C c.950A>C (p.Asp317Ala) c.902A>C (p.Asp301Ala) c.827A>C (p.Asp276Ala) c.770A>C (p.Asp257Ala) | |
| 3 | g.30672058A>G | CA351808069 | TGFBR2 | c.875A>G (p.Asp292Gly) n.2471A>G c.950A>G (p.Asp317Gly) c.902A>G (p.Asp301Gly) c.827A>G (p.Asp276Gly) c.770A>G (p.Asp257Gly) | dbSNP |
| 3 | g.30672058A>T | CA351808070 | TGFBR2 | c.875A>T (p.Asp292Val) n.2471A>T c.950A>T (p.Asp317Val) c.902A>T (p.Asp301Val) c.827A>T (p.Asp276Val) c.770A>T (p.Asp257Val) | dbSNP |
| 3 | g.30672059C>A | CA351808071 | TGFBR2 | c.876C>A (p.Asp292Glu) n.2472C>A c.951C>A (p.Asp317Glu) c.903C>A (p.Asp301Glu) c.828C>A (p.Asp276Glu) c.771C>A (p.Asp257Glu) | dbSNP |
| 3 | g.30672059C>G | CA351808072 | TGFBR2 | c.876C>G (p.Asp292Glu) n.2472C>G c.951C>G (p.Asp317Glu) c.903C>G (p.Asp301Glu) c.828C>G (p.Asp276Glu) c.771C>G (p.Asp257Glu) | dbSNP |
| 3 | g.30672059C>T | CA433058852 | TGFBR2 | c.876C>T (p.Asp292=) n.2472C>T c.951C>T (p.Asp317=) c.903C>T (p.Asp301=) c.828C>T (p.Asp276=) c.771C>T (p.Asp257=) | dbSNP |
| 3 | g.30672060A= | CA1354873107 | TGFBR2 | c.877A= (p.Ile293=) n.2473A= c.952A= (p.Ile318=) c.904A= (p.Ile302=) c.829A= (p.Ile277=) c.772A= (p.Ile258=) | |
| 3 | g.30672060A>C | CA351808073 | TGFBR2 | c.877A>C (p.Ile293Leu) n.2473A>C c.952A>C (p.Ile318Leu) c.904A>C (p.Ile302Leu) c.829A>C (p.Ile277Leu) c.772A>C (p.Ile258Leu) | |
| 3 | g.30672060A>G | CA050020 | TGFBR2 | c.877A>G (p.Ile293Val) n.2473A>G c.952A>G (p.Ile318Val) c.904A>G (p.Ile302Val) c.829A>G (p.Ile277Val) c.772A>G (p.Ile258Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672060A>T | CA351808074 | TGFBR2 | c.877A>T (p.Ile293Phe) n.2473A>T c.952A>T (p.Ile318Phe) c.904A>T (p.Ile302Phe) c.829A>T (p.Ile277Phe) c.772A>T (p.Ile258Phe) | ClinVar |
| 3 | g.30672061T>A | CA351808075 | TGFBR2 | c.878T>A (p.Ile293Asn) n.2474T>A c.953T>A (p.Ile318Asn) c.905T>A (p.Ile302Asn) c.830T>A (p.Ile277Asn) c.773T>A (p.Ile258Asn) | dbSNP |
| 3 | g.30672061T>C | CA351808076 | TGFBR2 | c.878T>C (p.Ile293Thr) n.2474T>C c.953T>C (p.Ile318Thr) c.905T>C (p.Ile302Thr) c.830T>C (p.Ile277Thr) c.773T>C (p.Ile258Thr) | dbSNP |
| 3 | g.30672061T>G | CA351808077 | TGFBR2 | c.878T>G (p.Ile293Ser) n.2474T>G c.953T>G (p.Ile318Ser) c.905T>G (p.Ile302Ser) c.830T>G (p.Ile277Ser) c.773T>G (p.Ile258Ser) | |
| 3 | g.30672061T= | CA1354873108 | TGFBR2 | c.878T= (p.Ile293=) n.2474T= c.953T= (p.Ile318=) c.905T= (p.Ile302=) c.830T= (p.Ile277=) c.773T= (p.Ile258=) | |
| 3 | g.30672064_30672066del | CA2580614160 | TGFBR2 | c.881_883del (p.Phe294del) n.2477_2479del c.956_958del (p.Phe319del) c.908_910del (p.Phe303del) c.833_835del (p.Phe278del) c.776_778del (p.Phe259del) | ClinVar |
| 3 | g.30672062C>A | CA433058854 | TGFBR2 | c.879C>A (p.Ile293=) n.2475C>A c.954C>A (p.Ile318=) c.906C>A (p.Ile302=) c.831C>A (p.Ile277=) c.774C>A (p.Ile258=) | dbSNP |
| 3 | g.30672062C>G | CA351808078 | TGFBR2 | c.879C>G (p.Ile293Met) n.2475C>G c.954C>G (p.Ile318Met) c.906C>G (p.Ile302Met) c.831C>G (p.Ile277Met) c.774C>G (p.Ile258Met) | dbSNP |
| 3 | g.30672062C>T | CA433058855 | TGFBR2 | c.879C>T (p.Ile293=) n.2475C>T c.954C>T (p.Ile318=) c.906C>T (p.Ile302=) c.831C>T (p.Ile277=) c.774C>T (p.Ile258=) | dbSNP |
| 3 | g.30672063T>A | CA351808079 | TGFBR2 | c.880T>A (p.Phe294Ile) n.2476T>A c.955T>A (p.Phe319Ile) c.907T>A (p.Phe303Ile) c.832T>A (p.Phe278Ile) c.775T>A (p.Phe259Ile) | dbSNP |
| 3 | g.30672063T>C | CA351808080 | TGFBR2 | c.880T>C (p.Phe294Leu) n.2476T>C c.955T>C (p.Phe319Leu) c.907T>C (p.Phe303Leu) c.832T>C (p.Phe278Leu) c.775T>C (p.Phe259Leu) | gnomAD v4 |
| 3 | g.30672063T>G | CA351808081 | TGFBR2 | c.880T>G (p.Phe294Val) n.2476T>G c.955T>G (p.Phe319Val) c.907T>G (p.Phe303Val) c.832T>G (p.Phe278Val) c.775T>G (p.Phe259Val) | |
| 3 | g.30672064T>A | CA351808082 | TGFBR2 | c.881T>A (p.Phe294Tyr) n.2477T>A c.956T>A (p.Phe319Tyr) c.908T>A (p.Phe303Tyr) c.833T>A (p.Phe278Tyr) c.776T>A (p.Phe259Tyr) | |
| 3 | g.30672064T>C | CA351808083 | TGFBR2 | c.881T>C (p.Phe294Ser) n.2477T>C c.956T>C (p.Phe319Ser) c.908T>C (p.Phe303Ser) c.833T>C (p.Phe278Ser) c.776T>C (p.Phe259Ser) | |
| 3 | g.30672064T>G | CA351808084 | TGFBR2 | c.881T>G (p.Phe294Cys) n.2477T>G c.956T>G (p.Phe319Cys) c.908T>G (p.Phe303Cys) c.833T>G (p.Phe278Cys) c.776T>G (p.Phe259Cys) | |
| 3 | g.30672065C>A | CA351808085 | TGFBR2 | c.882C>A (p.Phe294Leu) n.2478C>A c.957C>A (p.Phe319Leu) c.909C>A (p.Phe303Leu) c.834C>A (p.Phe278Leu) c.777C>A (p.Phe259Leu) | dbSNP |
| 3 | g.30672065C= | CA1354873109 | TGFBR2 | c.882C= (p.Phe294=) n.2478C= c.957C= (p.Phe319=) c.909C= (p.Phe303=) c.834C= (p.Phe278=) c.777C= (p.Phe259=) | |
| 3 | g.30672065C>G | CA351808086 | TGFBR2 | c.882C>G (p.Phe294Leu) n.2478C>G c.957C>G (p.Phe319Leu) c.909C>G (p.Phe303Leu) c.834C>G (p.Phe278Leu) c.777C>G (p.Phe259Leu) | dbSNP |
| 3 | g.30672065C>T | CA050037 | TGFBR2 | c.882C>T (p.Phe294=) n.2478C>T c.957C>T (p.Phe319=) c.909C>T (p.Phe303=) c.834C>T (p.Phe278=) c.777C>T (p.Phe259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672066T>A | CA351808089 | TGFBR2 | c.883T>A (p.Ser295Thr) n.2479T>A c.958T>A (p.Ser320Thr) c.910T>A (p.Ser304Thr) c.835T>A (p.Ser279Thr) c.778T>A (p.Ser260Thr) | dbSNP |
| 3 | g.30672066T>C | CA351808087 | TGFBR2 | c.883T>C (p.Ser295Pro) n.2479T>C c.958T>C (p.Ser320Pro) c.910T>C (p.Ser304Pro) c.835T>C (p.Ser279Pro) c.778T>C (p.Ser260Pro) | dbSNP |
| 3 | g.30672066T>G | CA351808088 | TGFBR2 | c.883T>G (p.Ser295Ala) n.2479T>G c.958T>G (p.Ser320Ala) c.910T>G (p.Ser304Ala) c.835T>G (p.Ser279Ala) c.778T>G (p.Ser260Ala) | |
| 3 | g.30672067C>A | CA351808090 | TGFBR2 | c.884C>A (p.Ser295Ter) n.2480C>A c.959C>A (p.Ser320Ter) c.911C>A (p.Ser304Ter) c.836C>A (p.Ser279Ter) c.779C>A (p.Ser260Ter) | dbSNP gnomAD v4 |
| 3 | g.30672067C= | CA1354873110 | TGFBR2 | c.884C= (p.Ser295=) n.2480C= c.959C= (p.Ser320=) c.911C= (p.Ser304=) c.836C= (p.Ser279=) c.779C= (p.Ser260=) | |
| 3 | g.30672067C>G | CA351808091 | TGFBR2 | c.884C>G (p.Ser295Ter) n.2480C>G c.959C>G (p.Ser320Ter) c.911C>G (p.Ser304Ter) c.836C>G (p.Ser279Ter) c.779C>G (p.Ser260Ter) | dbSNP COSMIC |
| 3 | g.30672067C>T | CA351808092 | TGFBR2 | c.884C>T (p.Ser295Leu) n.2480C>T c.959C>T (p.Ser320Leu) c.911C>T (p.Ser304Leu) c.836C>T (p.Ser279Leu) c.779C>T (p.Ser260Leu) | ClinVar dbSNP gnomAD v2 |
| 3 | g.30672068A>C | CA433058864 | TGFBR2 | c.885A>C (p.Ser295=) n.2481A>C c.960A>C (p.Ser320=) c.912A>C (p.Ser304=) c.837A>C (p.Ser279=) c.780A>C (p.Ser260=) | |
| 3 | g.30672068A>G | CA433058863 | TGFBR2 | c.885A>G (p.Ser295=) n.2481A>G c.960A>G (p.Ser320=) c.912A>G (p.Ser304=) c.837A>G (p.Ser279=) c.780A>G (p.Ser260=) | dbSNP |
| 3 | g.30672068A>T | CA433058861 | TGFBR2 | c.885A>T (p.Ser295=) n.2481A>T c.960A>T (p.Ser320=) c.912A>T (p.Ser304=) c.837A>T (p.Ser279=) c.780A>T (p.Ser260=) | dbSNP |
| 3 | g.30672069G>A | CA351808093 | TGFBR2 | c.886G>A (p.Asp296Asn) n.2482G>A c.961G>A (p.Asp321Asn) c.913G>A (p.Asp305Asn) c.838G>A (p.Asp280Asn) c.781G>A (p.Asp261Asn) | dbSNP |
| 3 | g.30672069G>C | CA351808094 | TGFBR2 | c.886G>C (p.Asp296His) n.2482G>C c.961G>C (p.Asp321His) c.913G>C (p.Asp305His) c.838G>C (p.Asp280His) c.781G>C (p.Asp261His) | dbSNP |
| 3 | g.30672069G>T | CA351808095 | TGFBR2 | c.886G>T (p.Asp296Tyr) n.2482G>T c.961G>T (p.Asp321Tyr) c.913G>T (p.Asp305Tyr) c.838G>T (p.Asp280Tyr) c.781G>T (p.Asp261Tyr) | dbSNP gnomAD v4 |
| 3 | g.30672070A>C | CA351808096 | TGFBR2 | c.887A>C (p.Asp296Ala) n.2483A>C c.962A>C (p.Asp321Ala) c.914A>C (p.Asp305Ala) c.839A>C (p.Asp280Ala) c.782A>C (p.Asp261Ala) | |
| 3 | g.30672070A>G | CA351808097 | TGFBR2 | c.887A>G (p.Asp296Gly) n.2483A>G c.962A>G (p.Asp321Gly) c.914A>G (p.Asp305Gly) c.839A>G (p.Asp280Gly) c.782A>G (p.Asp261Gly) | gnomAD v4 |
| 3 | g.30672070A>T | CA351808098 | TGFBR2 | c.887A>T (p.Asp296Val) n.2483A>T c.962A>T (p.Asp321Val) c.914A>T (p.Asp305Val) c.839A>T (p.Asp280Val) c.782A>T (p.Asp261Val) | dbSNP |
| 3 | g.30672071C>A | CA351808099 | TGFBR2 | c.888C>A (p.Asp296Glu) n.2484C>A c.963C>A (p.Asp321Glu) c.915C>A (p.Asp305Glu) c.840C>A (p.Asp280Glu) c.783C>A (p.Asp261Glu) | dbSNP |
| 3 | g.30672071C= | CA1354873111 | TGFBR2 | c.888C= (p.Asp296=) n.2484C= c.963C= (p.Asp321=) c.915C= (p.Asp305=) c.840C= (p.Asp280=) c.783C= (p.Asp261=) | |
| 3 | g.30672071C>G | CA351808100 | TGFBR2 | c.888C>G (p.Asp296Glu) n.2484C>G c.963C>G (p.Asp321Glu) c.915C>G (p.Asp305Glu) c.840C>G (p.Asp280Glu) c.783C>G (p.Asp261Glu) | dbSNP |
| 3 | g.30672071C>T | CA433058865 | TGFBR2 | c.888C>T (p.Asp296=) n.2484C>T c.963C>T (p.Asp321=) c.915C>T (p.Asp305=) c.840C>T (p.Asp280=) c.783C>T (p.Asp261=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672072A= | CA1354873112 | TGFBR2 | c.889A= (p.Ile297=) n.2485A= c.964A= (p.Ile322=) c.916A= (p.Ile306=) c.841A= (p.Ile281=) c.784A= (p.Ile262=) | |
| 3 | g.30672072A>C | CA351808102 | TGFBR2 | c.889A>C (p.Ile297Leu) n.2485A>C c.964A>C (p.Ile322Leu) c.916A>C (p.Ile306Leu) c.841A>C (p.Ile281Leu) c.784A>C (p.Ile262Leu) | |
| 3 | g.30672072A>G | CA050052 | TGFBR2 | c.889A>G (p.Ile297Val) n.2485A>G c.964A>G (p.Ile322Val) c.916A>G (p.Ile306Val) c.841A>G (p.Ile281Val) c.784A>G (p.Ile262Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672072A>T | CA351808101 | TGFBR2 | c.889A>T (p.Ile297Phe) n.2485A>T c.964A>T (p.Ile322Phe) c.916A>T (p.Ile306Phe) c.841A>T (p.Ile281Phe) c.784A>T (p.Ile262Phe) | dbSNP gnomAD v4 |
| 3 | g.30672073T>A | CA351808103 | TGFBR2 | c.890T>A (p.Ile297Asn) n.2486T>A c.965T>A (p.Ile322Asn) c.917T>A (p.Ile306Asn) c.842T>A (p.Ile281Asn) c.785T>A (p.Ile262Asn) | dbSNP |
| 3 | g.30672073T>C | CA351808105 | TGFBR2 | c.890T>C (p.Ile297Thr) n.2486T>C c.965T>C (p.Ile322Thr) c.917T>C (p.Ile306Thr) c.842T>C (p.Ile281Thr) c.785T>C (p.Ile262Thr) | dbSNP |
| 3 | g.30672073T>G | CA351808104 | TGFBR2 | c.890T>G (p.Ile297Ser) n.2486T>G c.965T>G (p.Ile322Ser) c.917T>G (p.Ile306Ser) c.842T>G (p.Ile281Ser) c.785T>G (p.Ile262Ser) | |
| 3 | g.30672074C>A | CA433058867 | TGFBR2 | c.891C>A (p.Ile297=) n.2487C>A c.966C>A (p.Ile322=) c.918C>A (p.Ile306=) c.843C>A (p.Ile281=) c.786C>A (p.Ile262=) | dbSNP |
| 3 | g.30672074C>G | CA351808106 | TGFBR2 | c.891C>G (p.Ile297Met) n.2487C>G c.966C>G (p.Ile322Met) c.918C>G (p.Ile306Met) c.843C>G (p.Ile281Met) c.786C>G (p.Ile262Met) | dbSNP |
| 3 | g.30672074C>T | CA433058868 | TGFBR2 | c.891C>T (p.Ile297=) n.2487C>T c.966C>T (p.Ile322=) c.918C>T (p.Ile306=) c.843C>T (p.Ile281=) c.786C>T (p.Ile262=) | dbSNP |
| 3 | g.30672075A= | CA1354873113 | TGFBR2 | c.892A= (p.Asn298=) n.2488A= c.967A= (p.Asn323=) c.919A= (p.Asn307=) c.844A= (p.Asn282=) c.787A= (p.Asn263=) | |
| 3 | g.30672075A>C | CA351808108 | TGFBR2 | c.892A>C (p.Asn298His) n.2488A>C c.967A>C (p.Asn323His) c.919A>C (p.Asn307His) c.844A>C (p.Asn282His) c.787A>C (p.Asn263His) | |
| 3 | g.30672075A>G | CA351808107 | TGFBR2 | c.892A>G (p.Asn298Asp) n.2488A>G c.967A>G (p.Asn323Asp) c.919A>G (p.Asn307Asp) c.844A>G (p.Asn282Asp) c.787A>G (p.Asn263Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672075A>T | CA351808109 | TGFBR2 | c.892A>T (p.Asn298Tyr) n.2488A>T c.967A>T (p.Asn323Tyr) c.919A>T (p.Asn307Tyr) c.844A>T (p.Asn282Tyr) c.787A>T (p.Asn263Tyr) | dbSNP |
| 3 | g.30672076A= | CA1354873114 | TGFBR2 | c.893A= (p.Asn298=) n.2489A= c.968A= (p.Asn323=) c.920A= (p.Asn307=) c.845A= (p.Asn282=) c.788A= (p.Asn263=) | |
| 3 | g.30672076A>C | CA351808110 | TGFBR2 | c.893A>C (p.Asn298Thr) n.2489A>C c.968A>C (p.Asn323Thr) c.920A>C (p.Asn307Thr) c.845A>C (p.Asn282Thr) c.788A>C (p.Asn263Thr) | ClinVar gnomAD v4 |
| 3 | g.30672076A>G | CA050066 | TGFBR2 | c.893A>G (p.Asn298Ser) n.2489A>G c.968A>G (p.Asn323Ser) c.920A>G (p.Asn307Ser) c.845A>G (p.Asn282Ser) c.788A>G (p.Asn263Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672076A>T | CA71528229 | TGFBR2 | c.893A>T (p.Asn298Ile) n.2489A>T c.968A>T (p.Asn323Ile) c.920A>T (p.Asn307Ile) c.845A>T (p.Asn282Ile) c.788A>T (p.Asn263Ile) | dbSNP gnomAD v4 |
| 3 | g.30672077T>A | CA351808111 | TGFBR2 | c.894T>A (p.Asn298Lys) n.2490T>A c.969T>A (p.Asn323Lys) c.921T>A (p.Asn307Lys) c.846T>A (p.Asn282Lys) c.789T>A (p.Asn263Lys) | dbSNP |
| 3 | g.30672077T>C | CA433058872 | TGFBR2 | c.894T>C (p.Asn298=) n.2490T>C c.969T>C (p.Asn323=) c.921T>C (p.Asn307=) c.846T>C (p.Asn282=) c.789T>C (p.Asn263=) | COSMIC COSMIC |
| 3 | g.30672077T>G | CA351808112 | TGFBR2 | c.894T>G (p.Asn298Lys) n.2490T>G c.969T>G (p.Asn323Lys) c.921T>G (p.Asn307Lys) c.846T>G (p.Asn282Lys) c.789T>G (p.Asn263Lys) | dbSNP gnomAD v4 |
| 3 | g.30672078C>A | CA351808113 | TGFBR2 | c.895C>A (p.Leu299Met) n.2491C>A c.970C>A (p.Leu324Met) c.922C>A (p.Leu308Met) c.847C>A (p.Leu283Met) c.790C>A (p.Leu264Met) | dbSNP gnomAD v4 |
| 3 | g.30672078C>G | CA351808114 | TGFBR2 | c.895C>G (p.Leu299Val) n.2491C>G c.970C>G (p.Leu324Val) c.922C>G (p.Leu308Val) c.847C>G (p.Leu283Val) c.790C>G (p.Leu264Val) | dbSNP |
| 3 | g.30672078C>T | CA433058874 | TGFBR2 | c.895C>T (p.Leu299=) n.2491C>T c.970C>T (p.Leu324=) c.922C>T (p.Leu308=) c.847C>T (p.Leu283=) c.790C>T (p.Leu264=) | dbSNP |
| 3 | g.30672079T>A | CA351808115 | TGFBR2 | c.896T>A (p.Leu299Gln) n.2492T>A c.971T>A (p.Leu324Gln) c.923T>A (p.Leu308Gln) c.848T>A (p.Leu283Gln) c.791T>A (p.Leu264Gln) | dbSNP |
| 3 | g.30672079T>C | CA351808116 | TGFBR2 | c.896T>C (p.Leu299Pro) n.2492T>C c.971T>C (p.Leu324Pro) c.923T>C (p.Leu308Pro) c.848T>C (p.Leu283Pro) c.791T>C (p.Leu264Pro) | dbSNP |
| 3 | g.30672079T>G | CA351808117 | TGFBR2 | c.896T>G (p.Leu299Arg) n.2492T>G c.971T>G (p.Leu324Arg) c.923T>G (p.Leu308Arg) c.848T>G (p.Leu283Arg) c.791T>G (p.Leu264Arg) | |
| 3 | g.30672080G>A | CA433058875 | TGFBR2 | c.897G>A (p.Leu299=) n.2493G>A c.972G>A (p.Leu324=) c.924G>A (p.Leu308=) c.849G>A (p.Leu283=) c.792G>A (p.Leu264=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672080G>C | CA433058877 | TGFBR2 | c.897G>C (p.Leu299=) n.2493G>C c.972G>C (p.Leu324=) c.924G>C (p.Leu308=) c.849G>C (p.Leu283=) c.792G>C (p.Leu264=) | dbSNP |
| 3 | g.30672080G= | CA1354873115 | TGFBR2 | c.897G= (p.Leu299=) n.2493G= c.972G= (p.Leu324=) c.924G= (p.Leu308=) c.849G= (p.Leu283=) c.792G= (p.Leu264=) | |
| 3 | g.30672080G>T | CA433058879 | TGFBR2 | c.897G>T (p.Leu299=) n.2493G>T c.972G>T (p.Leu324=) c.924G>T (p.Leu308=) c.849G>T (p.Leu283=) c.792G>T (p.Leu264=) | dbSNP |
| 3 | g.30672081A>C | CA351808118 | TGFBR2 | c.898A>C (p.Lys300Gln) n.2494A>C c.973A>C (p.Lys325Gln) c.925A>C (p.Lys309Gln) c.850A>C (p.Lys284Gln) c.793A>C (p.Lys265Gln) | dbSNP |
| 3 | g.30672081A>G | CA351808119 | TGFBR2 | c.898A>G (p.Lys300Glu) n.2494A>G c.973A>G (p.Lys325Glu) c.925A>G (p.Lys309Glu) c.850A>G (p.Lys284Glu) c.793A>G (p.Lys265Glu) | dbSNP |
| 3 | g.30672081A>T | CA351808120 | TGFBR2 | c.898A>T (p.Lys300Ter) n.2494A>T c.973A>T (p.Lys325Ter) c.925A>T (p.Lys309Ter) c.850A>T (p.Lys284Ter) c.793A>T (p.Lys265Ter) | dbSNP |
| 3 | g.30672082A>C | CA351808121 | TGFBR2 | c.899A>C (p.Lys300Thr) n.2495A>C c.974A>C (p.Lys325Thr) c.926A>C (p.Lys309Thr) c.851A>C (p.Lys284Thr) c.794A>C (p.Lys265Thr) | |
| 3 | g.30672082A>G | CA351808123 | TGFBR2 | c.899A>G (p.Lys300Arg) n.2495A>G c.974A>G (p.Lys325Arg) c.926A>G (p.Lys309Arg) c.851A>G (p.Lys284Arg) c.794A>G (p.Lys265Arg) | dbSNP |
| 3 | g.30672082A>T | CA351808122 | TGFBR2 | c.899A>T (p.Lys300Met) n.2495A>T c.974A>T (p.Lys325Met) c.926A>T (p.Lys309Met) c.851A>T (p.Lys284Met) c.794A>T (p.Lys265Met) | dbSNP |
| 3 | g.30672083G>A | CA433058881 | TGFBR2 | c.900G>A (p.Lys300=) n.2496G>A c.975G>A (p.Lys325=) c.927G>A (p.Lys309=) c.852G>A (p.Lys284=) c.795G>A (p.Lys265=) | dbSNP gnomAD v4 |
| 3 | g.30672083G>C | CA351808124 | TGFBR2 | c.900G>C (p.Lys300Asn) n.2496G>C c.975G>C (p.Lys325Asn) c.927G>C (p.Lys309Asn) c.852G>C (p.Lys284Asn) c.795G>C (p.Lys265Asn) | dbSNP |
| 3 | g.30672083G>T | CA351808125 | TGFBR2 | c.900G>T (p.Lys300Asn) n.2496G>T c.975G>T (p.Lys325Asn) c.927G>T (p.Lys309Asn) c.852G>T (p.Lys284Asn) c.795G>T (p.Lys265Asn) | ClinVar dbSNP |
| 3 | g.30672084C>A | CA351808126 | TGFBR2 | c.901C>A (p.His301Asn) n.2497C>A c.976C>A (p.His326Asn) c.928C>A (p.His310Asn) c.853C>A (p.His285Asn) c.796C>A (p.His266Asn) | |
| 3 | g.30672084C= | CA1354873116 | TGFBR2 | c.901C= (p.His301=) n.2497C= c.976C= (p.His326=) c.928C= (p.His310=) c.853C= (p.His285=) c.796C= (p.His266=) | |
| 3 | g.30672084C>G | CA351808127 | TGFBR2 | c.901C>G (p.His301Asp) n.2497C>G c.976C>G (p.His326Asp) c.928C>G (p.His310Asp) c.853C>G (p.His285Asp) c.796C>G (p.His266Asp) | dbSNP |
| 3 | g.30672084C>T | CA351808128 | TGFBR2 | c.901C>T (p.His301Tyr) n.2497C>T c.976C>T (p.His326Tyr) c.928C>T (p.His310Tyr) c.853C>T (p.His285Tyr) c.796C>T (p.His266Tyr) | ClinVar gnomAD v4 |
| 3 | g.30672085A= | CA1354873117 | TGFBR2 | c.902A= (p.His301=) n.2498A= c.977A= (p.His326=) c.929A= (p.His310=) c.854A= (p.His285=) c.797A= (p.His266=) | |
| 3 | g.30672085A>C | CA351808129 | TGFBR2 | c.902A>C (p.His301Pro) n.2498A>C c.977A>C (p.His326Pro) c.929A>C (p.His310Pro) c.854A>C (p.His285Pro) c.797A>C (p.His266Pro) | |
| 3 | g.30672085A>G | CA325027 | TGFBR2 | c.902A>G (p.His301Arg) n.2498A>G c.977A>G (p.His326Arg) c.929A>G (p.His310Arg) c.854A>G (p.His285Arg) c.797A>G (p.His266Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672085A>T | CA351808130 | TGFBR2 | c.902A>T (p.His301Leu) n.2498A>T c.977A>T (p.His326Leu) c.929A>T (p.His310Leu) c.854A>T (p.His285Leu) c.797A>T (p.His266Leu) | |
| 3 | g.30672086T>A | CA351808131 | TGFBR2 | c.903T>A (p.His301Gln) n.2499T>A c.978T>A (p.His326Gln) c.930T>A (p.His310Gln) c.855T>A (p.His285Gln) c.798T>A (p.His266Gln) | dbSNP |
| 3 | g.30672086T>C | CA433058883 | TGFBR2 | c.903T>C (p.His301=) n.2499T>C c.978T>C (p.His326=) c.930T>C (p.His310=) c.855T>C (p.His285=) c.798T>C (p.His266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672086T>G | CA351808132 | TGFBR2 | c.903T>G (p.His301Gln) n.2499T>G c.978T>G (p.His326Gln) c.930T>G (p.His310Gln) c.855T>G (p.His285Gln) c.798T>G (p.His266Gln) | |
| 3 | g.30672086T= | CA1354873118 | TGFBR2 | c.903T= (p.His301=) n.2499T= c.978T= (p.His326=) c.930T= (p.His310=) c.855T= (p.His285=) c.798T= (p.His266=) | |
| 3 | g.30672087G>A | CA351808134 | TGFBR2 | c.904G>A (p.Glu302Lys) n.2500G>A c.979G>A (p.Glu327Lys) c.931G>A (p.Glu311Lys) c.856G>A (p.Glu286Lys) c.799G>A (p.Glu267Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672087G>C | CA351808135 | TGFBR2 | c.904G>C (p.Glu302Gln) n.2500G>C c.979G>C (p.Glu327Gln) c.931G>C (p.Glu311Gln) c.856G>C (p.Glu286Gln) c.799G>C (p.Glu267Gln) | dbSNP |
| 3 | g.30672087G>T | CA351808133 | TGFBR2 | c.904G>T (p.Glu302Ter) n.2500G>T c.979G>T (p.Glu327Ter) c.931G>T (p.Glu311Ter) c.856G>T (p.Glu286Ter) c.799G>T (p.Glu267Ter) | COSMIC COSMIC |
| 3 | g.30672088A= | CA1354873119 | TGFBR2 | c.905A= (p.Glu302=) n.2501A= c.980A= (p.Glu327=) c.932A= (p.Glu311=) c.857A= (p.Glu286=) c.800A= (p.Glu267=) | |
| 3 | g.30672088A>C | CA351808136 | TGFBR2 | c.905A>C (p.Glu302Ala) n.2501A>C c.980A>C (p.Glu327Ala) c.932A>C (p.Glu311Ala) c.857A>C (p.Glu286Ala) c.800A>C (p.Glu267Ala) | |
| 3 | g.30672088A>G | CA351808137 | TGFBR2 | c.905A>G (p.Glu302Gly) n.2501A>G c.980A>G (p.Glu327Gly) c.932A>G (p.Glu311Gly) c.857A>G (p.Glu286Gly) c.800A>G (p.Glu267Gly) | |
| 3 | g.30672088A>T | CA050112 | TGFBR2 | c.905A>T (p.Glu302Val) n.2501A>T c.980A>T (p.Glu327Val) c.932A>T (p.Glu311Val) c.857A>T (p.Glu286Val) c.800A>T (p.Glu267Val) | dbSNP ExAC gnomAD v2 |
| 3 | g.30672089G>A | CA71528263 | TGFBR2 | c.906G>A (p.Glu302=) n.2502G>A c.981G>A (p.Glu327=) c.933G>A (p.Glu311=) c.858G>A (p.Glu286=) c.801G>A (p.Glu267=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672089G>C | CA351808138 | TGFBR2 | c.906G>C (p.Glu302Asp) n.2502G>C c.981G>C (p.Glu327Asp) c.933G>C (p.Glu311Asp) c.858G>C (p.Glu286Asp) c.801G>C (p.Glu267Asp) | dbSNP |
| 3 | g.30672089G= | CA1354873120 | TGFBR2 | c.906G= (p.Glu302=) n.2502G= c.981G= (p.Glu327=) c.933G= (p.Glu311=) c.858G= (p.Glu286=) c.801G= (p.Glu267=) | |
| 3 | g.30672089G>T | CA351808139 | TGFBR2 | c.906G>T (p.Glu302Asp) n.2502G>T c.981G>T (p.Glu327Asp) c.933G>T (p.Glu311Asp) c.858G>T (p.Glu286Asp) c.801G>T (p.Glu267Asp) | dbSNP |
| 3 | g.30672090A= | CA1354873121 | TGFBR2 | c.907A= (p.Asn303=) n.2503A= c.982A= (p.Asn328=) c.934A= (p.Asn312=) c.859A= (p.Asn287=) c.802A= (p.Asn268=) | |
| 3 | g.30672090A>C | CA050124 | TGFBR2 | c.907A>C (p.Asn303His) n.2503A>C c.982A>C (p.Asn328His) c.934A>C (p.Asn312His) c.859A>C (p.Asn287His) c.802A>C (p.Asn268His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672090A>G | CA351808140 | TGFBR2 | c.907A>G (p.Asn303Asp) n.2503A>G c.982A>G (p.Asn328Asp) c.934A>G (p.Asn312Asp) c.859A>G (p.Asn287Asp) c.802A>G (p.Asn268Asp) | |
| 3 | g.30672090A>T | CA351808141 | TGFBR2 | c.907A>T (p.Asn303Tyr) n.2503A>T c.982A>T (p.Asn328Tyr) c.934A>T (p.Asn312Tyr) c.859A>T (p.Asn287Tyr) c.802A>T (p.Asn268Tyr) | dbSNP |
| 3 | g.30672091dup | CA2664867668 | TGFBR2 | c.908dup (p.Asn303LysfsTer9) n.2504dup c.983dup (p.Asn328LysfsTer9) c.935dup (p.Asn312LysfsTer9) c.860dup (p.Asn287LysfsTer9) c.803dup (p.Asn268LysfsTer9) | gnomAD v4 |
| 3 | g.30672091A>C | CA351808142 | TGFBR2 | c.908A>C (p.Asn303Thr) n.2504A>C c.983A>C (p.Asn328Thr) c.935A>C (p.Asn312Thr) c.860A>C (p.Asn287Thr) c.803A>C (p.Asn268Thr) | |
| 3 | g.30672091A>G | CA351808143 | TGFBR2 | c.908A>G (p.Asn303Ser) n.2504A>G c.983A>G (p.Asn328Ser) c.935A>G (p.Asn312Ser) c.860A>G (p.Asn287Ser) c.803A>G (p.Asn268Ser) | ClinVar dbSNP |
| 3 | g.30672091A>T | CA351808144 | TGFBR2 | c.908A>T (p.Asn303Ile) n.2504A>T c.983A>T (p.Asn328Ile) c.935A>T (p.Asn312Ile) c.860A>T (p.Asn287Ile) c.803A>T (p.Asn268Ile) | dbSNP |
| 3 | g.30672092C>A | CA351808145 | TGFBR2 | c.909C>A (p.Asn303Lys) n.2505C>A c.984C>A (p.Asn328Lys) c.936C>A (p.Asn312Lys) c.861C>A (p.Asn287Lys) c.804C>A (p.Asn268Lys) | dbSNP gnomAD v4 |
| 3 | g.30672092C>G | CA351808146 | TGFBR2 | c.909C>G (p.Asn303Lys) n.2505C>G c.984C>G (p.Asn328Lys) c.936C>G (p.Asn312Lys) c.861C>G (p.Asn287Lys) c.804C>G (p.Asn268Lys) | dbSNP |
| 3 | g.30672092C>T | CA433058885 | TGFBR2 | c.909C>T (p.Asn303=) n.2505C>T c.984C>T (p.Asn328=) c.936C>T (p.Asn312=) c.861C>T (p.Asn287=) c.804C>T (p.Asn268=) | dbSNP gnomAD v4 |
| 3 | g.30672093A= | CA1354873122 | TGFBR2 | c.910A= (p.Ile304=) n.2506A= c.985A= (p.Ile329=) c.937A= (p.Ile313=) c.862A= (p.Ile288=) c.805A= (p.Ile269=) | |
| 3 | g.30672093A>C | CA351808149 | TGFBR2 | c.910A>C (p.Ile304Leu) n.2506A>C c.985A>C (p.Ile329Leu) c.937A>C (p.Ile313Leu) c.862A>C (p.Ile288Leu) c.805A>C (p.Ile269Leu) | |
| 3 | g.30672093A>G | CA351808148 | TGFBR2 | c.910A>G (p.Ile304Val) n.2506A>G c.985A>G (p.Ile329Val) c.937A>G (p.Ile313Val) c.862A>G (p.Ile288Val) c.805A>G (p.Ile269Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672093A>T | CA351808147 | TGFBR2 | c.910A>T (p.Ile304Leu) n.2506A>T c.985A>T (p.Ile329Leu) c.937A>T (p.Ile313Leu) c.862A>T (p.Ile288Leu) c.805A>T (p.Ile269Leu) | dbSNP gnomAD v4 |
| 3 | g.30672094T>A | CA351808150 | TGFBR2 | c.911T>A (p.Ile304Lys) n.2507T>A c.986T>A (p.Ile329Lys) c.938T>A (p.Ile313Lys) c.863T>A (p.Ile288Lys) c.806T>A (p.Ile269Lys) | dbSNP |
| 3 | g.30672094T>C | CA351808151 | TGFBR2 | c.911T>C (p.Ile304Thr) n.2507T>C c.986T>C (p.Ile329Thr) c.938T>C (p.Ile313Thr) c.863T>C (p.Ile288Thr) c.806T>C (p.Ile269Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672094T>G | CA351808152 | TGFBR2 | c.911T>G (p.Ile304Arg) n.2507T>G c.986T>G (p.Ile329Arg) c.938T>G (p.Ile313Arg) c.863T>G (p.Ile288Arg) c.806T>G (p.Ile269Arg) | dbSNP |
| 3 | g.30672094T= | CA1354873123 | TGFBR2 | c.911T= (p.Ile304=) n.2507T= c.986T= (p.Ile329=) c.938T= (p.Ile313=) c.863T= (p.Ile288=) c.806T= (p.Ile269=) | |
| 3 | g.30672095A= | CA1354873124 | TGFBR2 | c.912A= (p.Ile304=) n.2508A= c.987A= (p.Ile329=) c.939A= (p.Ile313=) c.864A= (p.Ile288=) c.807A= (p.Ile269=) | |
| 3 | g.30672095A>C | CA433058890 | TGFBR2 | c.912A>C (p.Ile304=) n.2508A>C c.987A>C (p.Ile329=) c.939A>C (p.Ile313=) c.864A>C (p.Ile288=) c.807A>C (p.Ile269=) | dbSNP |
| 3 | g.30672095A>G | CA351808153 | TGFBR2 | c.912A>G (p.Ile304Met) n.2508A>G c.987A>G (p.Ile329Met) c.939A>G (p.Ile313Met) c.864A>G (p.Ile288Met) c.807A>G (p.Ile269Met) | ClinVar dbSNP |
| 3 | g.30672095A>T | CA433058889 | TGFBR2 | c.912A>T (p.Ile304=) n.2508A>T c.987A>T (p.Ile329=) c.939A>T (p.Ile313=) c.864A>T (p.Ile288=) c.807A>T (p.Ile269=) | dbSNP |
| 3 | g.30672096C>A | CA351808154 | TGFBR2 | c.913C>A (p.Leu305Ile) n.2509C>A c.988C>A (p.Leu330Ile) c.940C>A (p.Leu314Ile) c.865C>A (p.Leu289Ile) c.808C>A (p.Leu270Ile) | dbSNP |
| 3 | g.30672096C= | CA1354873125 | TGFBR2 | c.913C= (p.Leu305=) n.2509C= c.988C= (p.Leu330=) c.940C= (p.Leu314=) c.865C= (p.Leu289=) c.808C= (p.Leu270=) | |
| 3 | g.30672096C>G | CA351808155 | TGFBR2 | c.913C>G (p.Leu305Val) n.2509C>G c.988C>G (p.Leu330Val) c.940C>G (p.Leu314Val) c.865C>G (p.Leu289Val) c.808C>G (p.Leu270Val) | dbSNP |
| 3 | g.30672096C>T | CA351808156 | TGFBR2 | c.913C>T (p.Leu305Phe) n.2509C>T c.988C>T (p.Leu330Phe) c.940C>T (p.Leu314Phe) c.865C>T (p.Leu289Phe) c.808C>T (p.Leu270Phe) | ClinVar dbSNP |
| 3 | g.30672097T>A | CA351808157 | TGFBR2 | c.914T>A (p.Leu305His) n.2510T>A c.989T>A (p.Leu330His) c.941T>A (p.Leu314His) c.866T>A (p.Leu289His) c.809T>A (p.Leu270His) | ClinVar dbSNP |
| 3 | g.30672097T>C | CA351808158 | TGFBR2 | c.914T>C (p.Leu305Pro) n.2510T>C c.989T>C (p.Leu330Pro) c.941T>C (p.Leu314Pro) c.866T>C (p.Leu289Pro) c.809T>C (p.Leu270Pro) | ClinVar |
| 3 | g.30672097T>G | CA351808159 | TGFBR2 | c.914T>G (p.Leu305Arg) n.2510T>G c.989T>G (p.Leu330Arg) c.941T>G (p.Leu314Arg) c.866T>G (p.Leu289Arg) c.809T>G (p.Leu270Arg) | ClinVar dbSNP |
| 3 | g.30672097T= | CA1354873126 | TGFBR2 | c.914T= (p.Leu305=) n.2510T= c.989T= (p.Leu330=) c.941T= (p.Leu314=) c.866T= (p.Leu289=) c.809T= (p.Leu270=) | |
| 3 | g.30672098C>A | CA433058894 | TGFBR2 | c.915C>A (p.Leu305=) n.2511C>A c.990C>A (p.Leu330=) c.942C>A (p.Leu314=) c.867C>A (p.Leu289=) c.810C>A (p.Leu270=) | dbSNP |
| 3 | g.30672098C= | CA1354873127 | TGFBR2 | c.915C= (p.Leu305=) n.2511C= c.990C= (p.Leu330=) c.942C= (p.Leu314=) c.867C= (p.Leu289=) c.810C= (p.Leu270=) | |
| 3 | g.30672098C>G | CA050138 | TGFBR2 | c.915C>G (p.Leu305=) n.2511C>G c.990C>G (p.Leu330=) c.942C>G (p.Leu314=) c.867C>G (p.Leu289=) c.810C>G (p.Leu270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672098C>T | CA050149 | TGFBR2 | c.915C>T (p.Leu305=) n.2511C>T c.990C>T (p.Leu330=) c.942C>T (p.Leu314=) c.867C>T (p.Leu289=) c.810C>T (p.Leu270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672098_30672099delinsTCATG | CA2586965651 | TGFBR2 | c.915_916delinsTCATG (p.Gln306delinsHisGlu) n.2511_2512delinsTCATG c.990_991delinsTCATG (p.Gln331delinsHisGlu) c.942_943delinsTCATG (p.Gln315delinsHisGlu) c.867_868delinsTCATG (p.Gln290delinsHisGlu) c.810_811delinsTCATG (p.Gln271delinsHisGlu) | |
| 3 | g.30672099C>A | CA351808162 | TGFBR2 | c.916C>A (p.Gln306Lys) n.2512C>A c.991C>A (p.Gln331Lys) c.943C>A (p.Gln315Lys) c.868C>A (p.Gln290Lys) c.811C>A (p.Gln271Lys) | dbSNP |
| 3 | g.30672099C>G | CA351808161 | TGFBR2 | c.916C>G (p.Gln306Glu) n.2512C>G c.991C>G (p.Gln331Glu) c.943C>G (p.Gln315Glu) c.868C>G (p.Gln290Glu) c.811C>G (p.Gln271Glu) | dbSNP |
| 3 | g.30672099C>T | CA351808160 | TGFBR2 | c.916C>T (p.Gln306Ter) n.2512C>T c.991C>T (p.Gln331Ter) c.943C>T (p.Gln315Ter) c.868C>T (p.Gln290Ter) c.811C>T (p.Gln271Ter) | dbSNP gnomAD v4 COSMIC |
| 3 | g.30672100A>C | CA351808163 | TGFBR2 | c.917A>C (p.Gln306Pro) n.2513A>C c.992A>C (p.Gln331Pro) c.944A>C (p.Gln315Pro) c.869A>C (p.Gln290Pro) c.812A>C (p.Gln271Pro) | |
| 3 | g.30672100A>G | CA351808165 | TGFBR2 | c.917A>G (p.Gln306Arg) n.2513A>G c.992A>G (p.Gln331Arg) c.944A>G (p.Gln315Arg) c.869A>G (p.Gln290Arg) c.812A>G (p.Gln271Arg) | |
| 3 | g.30672100A>T | CA351808164 | TGFBR2 | c.917A>T (p.Gln306Leu) n.2513A>T c.992A>T (p.Gln331Leu) c.944A>T (p.Gln315Leu) c.869A>T (p.Gln290Leu) c.812A>T (p.Gln271Leu) | dbSNP |
| 3 | g.30672101G>A | CA433058895 | TGFBR2 | c.918G>A (p.Gln306=) n.2514G>A c.993G>A (p.Gln331=) c.945G>A (p.Gln315=) c.870G>A (p.Gln290=) c.813G>A (p.Gln271=) | dbSNP |
| 3 | g.30672101G>C | CA351808166 | TGFBR2 | c.918G>C (p.Gln306His) n.2514G>C c.993G>C (p.Gln331His) c.945G>C (p.Gln315His) c.870G>C (p.Gln290His) c.813G>C (p.Gln271His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672101G= | CA1354873128 | TGFBR2 | c.918G= (p.Gln306=) n.2514G= c.993G= (p.Gln331=) c.945G= (p.Gln315=) c.870G= (p.Gln290=) c.813G= (p.Gln271=) | |
| 3 | g.30672101G>T | CA351808167 | TGFBR2 | c.918G>T (p.Gln306His) n.2514G>T c.993G>T (p.Gln331His) c.945G>T (p.Gln315His) c.870G>T (p.Gln290His) c.813G>T (p.Gln271His) | |
| 3 | g.30672102T>A | CA351808168 | TGFBR2 | c.919T>A (p.Phe307Ile) n.2515T>A c.994T>A (p.Phe332Ile) c.946T>A (p.Phe316Ile) c.871T>A (p.Phe291Ile) c.814T>A (p.Phe272Ile) | dbSNP |
| 3 | g.30672102T>C | CA351808169 | TGFBR2 | c.919T>C (p.Phe307Leu) n.2515T>C c.994T>C (p.Phe332Leu) c.946T>C (p.Phe316Leu) c.871T>C (p.Phe291Leu) c.814T>C (p.Phe272Leu) | dbSNP |
| 3 | g.30672102T>G | CA351808170 | TGFBR2 | c.919T>G (p.Phe307Val) n.2515T>G c.994T>G (p.Phe332Val) c.946T>G (p.Phe316Val) c.871T>G (p.Phe291Val) c.814T>G (p.Phe272Val) | dbSNP |
| 3 | g.30672103T>A | CA351808171 | TGFBR2 | c.920T>A (p.Phe307Tyr) n.2516T>A c.995T>A (p.Phe332Tyr) c.947T>A (p.Phe316Tyr) c.872T>A (p.Phe291Tyr) c.815T>A (p.Phe272Tyr) | dbSNP |
| 3 | g.30672103T>C | CA351808172 | TGFBR2 | c.920T>C (p.Phe307Ser) n.2516T>C c.995T>C (p.Phe332Ser) c.947T>C (p.Phe316Ser) c.872T>C (p.Phe291Ser) c.815T>C (p.Phe272Ser) | dbSNP |
| 3 | g.30672103T>G | CA351808173 | TGFBR2 | c.920T>G (p.Phe307Cys) n.2516T>G c.995T>G (p.Phe332Cys) c.947T>G (p.Phe316Cys) c.872T>G (p.Phe291Cys) c.815T>G (p.Phe272Cys) | |
| 3 | g.30672104C>A | CA351808174 | TGFBR2 | c.921C>A (p.Phe307Leu) n.2517C>A c.996C>A (p.Phe332Leu) c.948C>A (p.Phe316Leu) c.873C>A (p.Phe291Leu) c.816C>A (p.Phe272Leu) | gnomAD v4 |
| 3 | g.30672104C= | CA1354873129 | TGFBR2 | c.921C= (p.Phe307=) n.2517C= c.996C= (p.Phe332=) c.948C= (p.Phe316=) c.873C= (p.Phe291=) c.816C= (p.Phe272=) | |
| 3 | g.30672104C>G | CA351808175 | TGFBR2 | c.921C>G (p.Phe307Leu) n.2517C>G c.996C>G (p.Phe332Leu) c.948C>G (p.Phe316Leu) c.873C>G (p.Phe291Leu) c.816C>G (p.Phe272Leu) | dbSNP |
| 3 | g.30672104C>T | CA71528298 | TGFBR2 | c.921C>T (p.Phe307=) n.2517C>T c.996C>T (p.Phe332=) c.948C>T (p.Phe316=) c.873C>T (p.Phe291=) c.816C>T (p.Phe272=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672105C>A | CA351808176 | TGFBR2 | c.922C>A (p.Leu308Met) n.2518C>A c.997C>A (p.Leu333Met) c.949C>A (p.Leu317Met) c.874C>A (p.Leu292Met) c.817C>A (p.Leu273Met) | |
| 3 | g.30672105C>G | CA351808177 | TGFBR2 | c.922C>G (p.Leu308Val) n.2518C>G c.997C>G (p.Leu333Val) c.949C>G (p.Leu317Val) c.874C>G (p.Leu292Val) c.817C>G (p.Leu273Val) | dbSNP |
| 3 | g.30672105C>T | CA433058897 | TGFBR2 | c.922C>T (p.Leu308=) n.2518C>T c.997C>T (p.Leu333=) c.949C>T (p.Leu317=) c.874C>T (p.Leu292=) c.817C>T (p.Leu273=) | dbSNP |
| 3 | g.30672106T>A | CA351808179 | TGFBR2 | c.923T>A (p.Leu308Gln) n.2519T>A c.998T>A (p.Leu333Gln) c.950T>A (p.Leu317Gln) c.875T>A (p.Leu292Gln) c.818T>A (p.Leu273Gln) | |
| 3 | g.30672106T>C | CA020791 | TGFBR2 | c.923T>C (p.Leu308Pro) n.2519T>C c.998T>C (p.Leu333Pro) c.950T>C (p.Leu317Pro) c.875T>C (p.Leu292Pro) c.818T>C (p.Leu273Pro) | ClinVar dbSNP |
| 3 | g.30672106T>G | CA351808178 | TGFBR2 | c.923T>G (p.Leu308Arg) n.2519T>G c.998T>G (p.Leu333Arg) c.950T>G (p.Leu317Arg) c.875T>G (p.Leu292Arg) c.818T>G (p.Leu273Arg) | |
| 3 | g.30672106T= | CA1354873130 | TGFBR2 | c.923T= (p.Leu308=) n.2519T= c.998T= (p.Leu333=) c.950T= (p.Leu317=) c.875T= (p.Leu292=) c.818T= (p.Leu273=) | |
| 3 | g.30672107G>A | CA433058898 | TGFBR2 | c.924G>A (p.Leu308=) n.2520G>A c.999G>A (p.Leu333=) c.951G>A (p.Leu317=) c.876G>A (p.Leu292=) c.819G>A (p.Leu273=) | ClinVar dbSNP |
| 3 | g.30672107G>C | CA433058900 | TGFBR2 | c.924G>C (p.Leu308=) n.2520G>C c.999G>C (p.Leu333=) c.951G>C (p.Leu317=) c.876G>C (p.Leu292=) c.819G>C (p.Leu273=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672107G= | CA1354873131 | TGFBR2 | c.924G= (p.Leu308=) n.2520G= c.999G= (p.Leu333=) c.951G= (p.Leu317=) c.876G= (p.Leu292=) c.819G= (p.Leu273=) | |
| 3 | g.30672107G>T | CA433058901 | TGFBR2 | c.924G>T (p.Leu308=) n.2520G>T c.999G>T (p.Leu333=) c.951G>T (p.Leu317=) c.876G>T (p.Leu292=) c.819G>T (p.Leu273=) | dbSNP gnomAD v4 |
| 3 | g.30672108A>C | CA351808180 | TGFBR2 | c.925A>C (p.Thr309Pro) n.2521A>C c.1000A>C (p.Thr334Pro) c.952A>C (p.Thr318Pro) c.877A>C (p.Thr293Pro) c.820A>C (p.Thr274Pro) | dbSNP |
| 3 | g.30672108A>G | CA351808181 | TGFBR2 | c.925A>G (p.Thr309Ala) n.2521A>G c.1000A>G (p.Thr334Ala) c.952A>G (p.Thr318Ala) c.877A>G (p.Thr293Ala) c.820A>G (p.Thr274Ala) | dbSNP |
| 3 | g.30672108A>T | CA351808182 | TGFBR2 | c.925A>T (p.Thr309Ser) n.2521A>T c.1000A>T (p.Thr334Ser) c.952A>T (p.Thr318Ser) c.877A>T (p.Thr293Ser) c.820A>T (p.Thr274Ser) | dbSNP |
| 3 | g.30672109C>A | CA351808183 | TGFBR2 | c.926C>A (p.Thr309Lys) n.2522C>A c.1001C>A (p.Thr334Lys) c.953C>A (p.Thr318Lys) c.878C>A (p.Thr293Lys) c.821C>A (p.Thr274Lys) | |
| 3 | g.30672109C= | CA1354873132 | TGFBR2 | c.926C= (p.Thr309=) n.2522C= c.1001C= (p.Thr334=) c.953C= (p.Thr318=) c.878C= (p.Thr293=) c.821C= (p.Thr274=) | |
| 3 | g.30672109C>G | CA351808184 | TGFBR2 | c.926C>G (p.Thr309Arg) n.2522C>G c.1001C>G (p.Thr334Arg) c.953C>G (p.Thr318Arg) c.878C>G (p.Thr293Arg) c.821C>G (p.Thr274Arg) | dbSNP |
| 3 | g.30672109C>T | CA050182 | TGFBR2 | c.926C>T (p.Thr309Met) n.2522C>T c.1001C>T (p.Thr334Met) c.953C>T (p.Thr318Met) c.878C>T (p.Thr293Met) c.821C>T (p.Thr274Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672110G>A | CA050194 | TGFBR2 | c.927G>A (p.Thr309=) n.2523G>A c.1002G>A (p.Thr334=) c.954G>A (p.Thr318=) c.879G>A (p.Thr293=) c.822G>A (p.Thr274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672110G>C | CA050207 | TGFBR2 | c.927G>C (p.Thr309=) n.2523G>C c.1002G>C (p.Thr334=) c.954G>C (p.Thr318=) c.879G>C (p.Thr293=) c.822G>C (p.Thr274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672110G= | CA1354873133 | TGFBR2 | c.927G= (p.Thr309=) n.2523G= c.1002G= (p.Thr334=) c.954G= (p.Thr318=) c.879G= (p.Thr293=) c.822G= (p.Thr274=) | |
| 3 | g.30672110G>T | CA433058902 | TGFBR2 | c.927G>T (p.Thr309=) n.2523G>T c.1002G>T (p.Thr334=) c.954G>T (p.Thr318=) c.879G>T (p.Thr293=) c.822G>T (p.Thr274=) | dbSNP COSMIC COSMIC |
| 3 | g.30672111G>A | CA351808185 | TGFBR2 | c.928G>A (p.Ala310Thr) n.2524G>A c.1003G>A (p.Ala335Thr) c.955G>A (p.Ala319Thr) c.880G>A (p.Ala294Thr) c.823G>A (p.Ala275Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672111G>C | CA351808186 | TGFBR2 | c.928G>C (p.Ala310Pro) n.2524G>C c.1003G>C (p.Ala335Pro) c.955G>C (p.Ala319Pro) c.880G>C (p.Ala294Pro) c.823G>C (p.Ala275Pro) | dbSNP |
| 3 | g.30672111G= | CA1354873134 | TGFBR2 | c.928G= (p.Ala310=) n.2524G= c.1003G= (p.Ala335=) c.955G= (p.Ala319=) c.880G= (p.Ala294=) c.823G= (p.Ala275=) | |
| 3 | g.30672111G>T | CA351808187 | TGFBR2 | c.928G>T (p.Ala310Ser) n.2524G>T c.1003G>T (p.Ala335Ser) c.955G>T (p.Ala319Ser) c.880G>T (p.Ala294Ser) c.823G>T (p.Ala275Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672112C>A | CA351808190 | TGFBR2 | c.929C>A (p.Ala310Asp) n.2525C>A c.1004C>A (p.Ala335Asp) c.956C>A (p.Ala319Asp) c.881C>A (p.Ala294Asp) c.824C>A (p.Ala275Asp) | dbSNP |
| 3 | g.30672112C>G | CA351808189 | TGFBR2 | c.929C>G (p.Ala310Gly) n.2525C>G c.1004C>G (p.Ala335Gly) c.956C>G (p.Ala319Gly) c.881C>G (p.Ala294Gly) c.824C>G (p.Ala275Gly) | dbSNP gnomAD v4 |
| 3 | g.30672112C>T | CA351808188 | TGFBR2 | c.929C>T (p.Ala310Val) n.2525C>T c.1004C>T (p.Ala335Val) c.956C>T (p.Ala319Val) c.881C>T (p.Ala294Val) c.824C>T (p.Ala275Val) | dbSNP |
| 3 | g.30672113T>A | CA433058906 | TGFBR2 | c.930T>A (p.Ala310=) n.2526T>A c.1005T>A (p.Ala335=) c.957T>A (p.Ala319=) c.882T>A (p.Ala294=) c.825T>A (p.Ala275=) | dbSNP |
| 3 | g.30672113T>C | CA433058907 | TGFBR2 | c.930T>C (p.Ala310=) n.2526T>C c.1005T>C (p.Ala335=) c.957T>C (p.Ala319=) c.882T>C (p.Ala294=) c.825T>C (p.Ala275=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672113T>G | CA433058908 | TGFBR2 | c.930T>G (p.Ala310=) n.2526T>G c.1005T>G (p.Ala335=) c.957T>G (p.Ala319=) c.882T>G (p.Ala294=) c.825T>G (p.Ala275=) | dbSNP |
| 3 | g.30672113T= | CA1354873135 | TGFBR2 | c.930T= (p.Ala310=) n.2526T= c.1005T= (p.Ala335=) c.957T= (p.Ala319=) c.882T= (p.Ala294=) c.825T= (p.Ala275=) | |
| 3 | g.30672114G>A | CA351808191 | TGFBR2 | c.931G>A (p.Glu311Lys) n.2527G>A c.1006G>A (p.Glu336Lys) c.958G>A (p.Glu320Lys) c.883G>A (p.Glu295Lys) c.826G>A (p.Glu276Lys) | dbSNP COSMIC COSMIC |
| 3 | g.30672114G>C | CA351808192 | TGFBR2 | c.931G>C (p.Glu311Gln) n.2527G>C c.1006G>C (p.Glu336Gln) c.958G>C (p.Glu320Gln) c.883G>C (p.Glu295Gln) c.826G>C (p.Glu276Gln) | dbSNP |
| 3 | g.30672114G>T | CA351808193 | TGFBR2 | c.931G>T (p.Glu311Ter) n.2527G>T c.1006G>T (p.Glu336Ter) c.958G>T (p.Glu320Ter) c.883G>T (p.Glu295Ter) c.826G>T (p.Glu276Ter) | |
| 3 | g.30672115A>C | CA351808194 | TGFBR2 | c.932A>C (p.Glu311Ala) n.2528A>C c.1007A>C (p.Glu336Ala) c.959A>C (p.Glu320Ala) c.884A>C (p.Glu295Ala) c.827A>C (p.Glu276Ala) | |
| 3 | g.30672115A>G | CA351808195 | TGFBR2 | c.932A>G (p.Glu311Gly) n.2528A>G c.1007A>G (p.Glu336Gly) c.959A>G (p.Glu320Gly) c.884A>G (p.Glu295Gly) c.827A>G (p.Glu276Gly) | dbSNP |
| 3 | g.30672115A>T | CA351808196 | TGFBR2 | c.932A>T (p.Glu311Val) n.2528A>T c.1007A>T (p.Glu336Val) c.959A>T (p.Glu320Val) c.884A>T (p.Glu295Val) c.827A>T (p.Glu276Val) | dbSNP |
| 3 | g.30672115_30672135delinsAGGAGCGGAAGACGGAGTTGG | CA1354873136 | TGFBR2 | c.932_952delinsAGGAGCGGAAGACGGAGTTGG (p.Glu311=) n.2528_2548delinsAGGAGCGGAAGACGGAGTTGG c.1007_1027delinsAGGAGCGGAAGACGGAGTTGG (p.Glu336=) c.959_979delinsAGGAGCGGAAGACGGAGTTGG (p.Glu320=) c.884_904delinsAGGAGCGGAAGACGGAGTTGG (p.Glu295=) c.827_847delinsAGGAGCGGAAGACGGAGTTGG (p.Glu276=) | |
| 3 | g.30672116G>A | CA050230 | TGFBR2 | c.933G>A (p.Glu311=) n.2529G>A c.1008G>A (p.Glu336=) c.960G>A (p.Glu320=) c.885G>A (p.Glu295=) c.828G>A (p.Glu276=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.30672116G>C | CA351808197 | TGFBR2 | c.933G>C (p.Glu311Asp) n.2529G>C c.1008G>C (p.Glu336Asp) c.960G>C (p.Glu320Asp) c.885G>C (p.Glu295Asp) c.828G>C (p.Glu276Asp) | |
| 3 | g.30672116G= | CA1354873137 | TGFBR2 | c.933G= (p.Glu311=) n.2529G= c.1008G= (p.Glu336=) c.960G= (p.Glu320=) c.885G= (p.Glu295=) c.828G= (p.Glu276=) | |
| 3 | g.30672116G>T | CA351808198 | TGFBR2 | c.933G>T (p.Glu311Asp) n.2529G>T c.1008G>T (p.Glu336Asp) c.960G>T (p.Glu320Asp) c.885G>T (p.Glu295Asp) c.828G>T (p.Glu276Asp) | |
| 3 | g.30672119_30672138del | CA541976297 | TGFBR2 | c.936_955del (p.Arg313ThrfsTer?) n.2532_2551del c.1011_1030del (p.Arg338ThrfsTer?) c.963_982del (p.Arg322ThrfsTer?) c.888_907del (p.Arg297ThrfsTer?) c.831_850del (p.Arg278ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672117G>A | CA020552 | TGFBR2 | c.934G>A (p.Glu312Lys) n.2530G>A c.1009G>A (p.Glu337Lys) c.961G>A (p.Glu321Lys) c.886G>A (p.Glu296Lys) c.829G>A (p.Glu277Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672117G>C | CA351808199 | TGFBR2 | c.934G>C (p.Glu312Gln) n.2530G>C c.1009G>C (p.Glu337Gln) c.961G>C (p.Glu321Gln) c.886G>C (p.Glu296Gln) c.829G>C (p.Glu277Gln) | dbSNP |
| 3 | g.30672117G= | CA1354873138 | TGFBR2 | c.934G= (p.Glu312=) n.2530G= c.1009G= (p.Glu337=) c.961G= (p.Glu321=) c.886G= (p.Glu296=) c.829G= (p.Glu277=) | |
| 3 | g.30672117G>T | CA351808200 | TGFBR2 | c.934G>T (p.Glu312Ter) n.2530G>T c.1009G>T (p.Glu337Ter) c.961G>T (p.Glu321Ter) c.886G>T (p.Glu296Ter) c.829G>T (p.Glu277Ter) | dbSNP |
| 3 | g.30672118A>C | CA351808203 | TGFBR2 | c.935A>C (p.Glu312Ala) n.2531A>C c.1010A>C (p.Glu337Ala) c.962A>C (p.Glu321Ala) c.887A>C (p.Glu296Ala) c.830A>C (p.Glu277Ala) | |
| 3 | g.30672118A>G | CA351808202 | TGFBR2 | c.935A>G (p.Glu312Gly) n.2531A>G c.1010A>G (p.Glu337Gly) c.962A>G (p.Glu321Gly) c.887A>G (p.Glu296Gly) c.830A>G (p.Glu277Gly) | dbSNP |
| 3 | g.30672118A>T | CA351808201 | TGFBR2 | c.935A>T (p.Glu312Val) n.2531A>T c.1010A>T (p.Glu337Val) c.962A>T (p.Glu321Val) c.887A>T (p.Glu296Val) c.830A>T (p.Glu277Val) | dbSNP |
| 3 | g.30672119G>A | CA433058911 | TGFBR2 | c.936G>A (p.Glu312=) n.2532G>A c.1011G>A (p.Glu337=) c.963G>A (p.Glu321=) c.888G>A (p.Glu296=) c.831G>A (p.Glu277=) | dbSNP |
| 3 | g.30672119G>C | CA351808204 | TGFBR2 | c.936G>C (p.Glu312Asp) n.2532G>C c.1011G>C (p.Glu337Asp) c.963G>C (p.Glu321Asp) c.888G>C (p.Glu296Asp) c.831G>C (p.Glu277Asp) | dbSNP |
| 3 | g.30672119G>T | CA351808205 | TGFBR2 | c.936G>T (p.Glu312Asp) n.2532G>T c.1011G>T (p.Glu337Asp) c.963G>T (p.Glu321Asp) c.888G>T (p.Glu296Asp) c.831G>T (p.Glu277Asp) | gnomAD v4 |
| 3 | g.30672120C>A | CA433058913 | TGFBR2 | c.937C>A (p.Arg313=) n.2533C>A c.1012C>A (p.Arg338=) c.964C>A (p.Arg322=) c.889C>A (p.Arg297=) c.832C>A (p.Arg278=) | dbSNP |
| 3 | g.30672120C= | CA1354873139 | TGFBR2 | c.937C= (p.Arg313=) n.2533C= c.1012C= (p.Arg338=) c.964C= (p.Arg322=) c.889C= (p.Arg297=) c.832C= (p.Arg278=) | |
| 3 | g.30672120C>G | CA351808206 | TGFBR2 | c.937C>G (p.Arg313Gly) n.2533C>G c.1012C>G (p.Arg338Gly) c.964C>G (p.Arg322Gly) c.889C>G (p.Arg297Gly) c.832C>G (p.Arg278Gly) | ClinVar dbSNP |
| 3 | g.30672120C>T | CA71528357 | TGFBR2 | c.937C>T (p.Arg313Trp) n.2533C>T c.1012C>T (p.Arg338Trp) c.964C>T (p.Arg322Trp) c.889C>T (p.Arg297Trp) c.832C>T (p.Arg278Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672121G>A | CA050250 | TGFBR2 | c.938G>A (p.Arg313Gln) n.2534G>A c.1013G>A (p.Arg338Gln) c.965G>A (p.Arg322Gln) c.890G>A (p.Arg297Gln) c.833G>A (p.Arg278Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672121G>C | CA351808207 | TGFBR2 | c.938G>C (p.Arg313Pro) n.2534G>C c.1013G>C (p.Arg338Pro) c.965G>C (p.Arg322Pro) c.890G>C (p.Arg297Pro) c.833G>C (p.Arg278Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672121G= | CA1354873140 | TGFBR2 | c.938G= (p.Arg313=) n.2534G= c.1013G= (p.Arg338=) c.965G= (p.Arg322=) c.890G= (p.Arg297=) c.833G= (p.Arg278=) | |
| 3 | g.30672121G>T | CA050258 | TGFBR2 | c.938G>T (p.Arg313Leu) n.2534G>T c.1013G>T (p.Arg338Leu) c.965G>T (p.Arg322Leu) c.890G>T (p.Arg297Leu) c.833G>T (p.Arg278Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672122G>A | CA433058914 | TGFBR2 | c.939G>A (p.Arg313=) n.2535G>A c.1014G>A (p.Arg338=) c.966G>A (p.Arg322=) c.891G>A (p.Arg297=) c.834G>A (p.Arg278=) | dbSNP |
| 3 | g.30672122G>C | CA433058916 | TGFBR2 | c.939G>C (p.Arg313=) n.2535G>C c.1014G>C (p.Arg338=) c.966G>C (p.Arg322=) c.891G>C (p.Arg297=) c.834G>C (p.Arg278=) | dbSNP |
| 3 | g.30672122G= | CA1354873141 | TGFBR2 | c.939G= (p.Arg313=) n.2535G= c.1014G= (p.Arg338=) c.966G= (p.Arg322=) c.891G= (p.Arg297=) c.834G= (p.Arg278=) | |
| 3 | g.30672122G>T | CA433058915 | TGFBR2 | c.939G>T (p.Arg313=) n.2535G>T c.1014G>T (p.Arg338=) c.966G>T (p.Arg322=) c.891G>T (p.Arg297=) c.834G>T (p.Arg278=) | ClinVar dbSNP |
| 3 | g.30672123A>C | CA351808208 | TGFBR2 | c.940A>C (p.Lys314Gln) n.2536A>C c.1015A>C (p.Lys339Gln) c.967A>C (p.Lys323Gln) c.892A>C (p.Lys298Gln) c.835A>C (p.Lys279Gln) | |
| 3 | g.30672123A>G | CA351808209 | TGFBR2 | c.940A>G (p.Lys314Glu) n.2536A>G c.1015A>G (p.Lys339Glu) c.967A>G (p.Lys323Glu) c.892A>G (p.Lys298Glu) c.835A>G (p.Lys279Glu) | |
| 3 | g.30672123A>T | CA351808210 | TGFBR2 | c.940A>T (p.Lys314Ter) n.2536A>T c.1015A>T (p.Lys339Ter) c.967A>T (p.Lys323Ter) c.892A>T (p.Lys298Ter) c.835A>T (p.Lys279Ter) | dbSNP |
| 3 | g.30672124A>C | CA351808211 | TGFBR2 | c.941A>C (p.Lys314Thr) n.2537A>C c.1016A>C (p.Lys339Thr) c.968A>C (p.Lys323Thr) c.893A>C (p.Lys298Thr) c.836A>C (p.Lys279Thr) | |
| 3 | g.30672124A>G | CA351808212 | TGFBR2 | c.941A>G (p.Lys314Arg) n.2537A>G c.1016A>G (p.Lys339Arg) c.968A>G (p.Lys323Arg) c.893A>G (p.Lys298Arg) c.836A>G (p.Lys279Arg) | dbSNP |
| 3 | g.30672124A>T | CA351808213 | TGFBR2 | c.941A>T (p.Lys314Met) n.2537A>T c.1016A>T (p.Lys339Met) c.968A>T (p.Lys323Met) c.893A>T (p.Lys298Met) c.836A>T (p.Lys279Met) | dbSNP |
| 3 | g.30672125G>A | CA433058918 | TGFBR2 | c.942G>A (p.Lys314=) n.2538G>A c.1017G>A (p.Lys339=) c.969G>A (p.Lys323=) c.894G>A (p.Lys298=) c.837G>A (p.Lys279=) | dbSNP gnomAD v4 |
| 3 | g.30672125G>C | CA351808215 | TGFBR2 | c.942G>C (p.Lys314Asn) n.2538G>C c.1017G>C (p.Lys339Asn) c.969G>C (p.Lys323Asn) c.894G>C (p.Lys298Asn) c.837G>C (p.Lys279Asn) | dbSNP |
| 3 | g.30672125G>T | CA351808214 | TGFBR2 | c.942G>T (p.Lys314Asn) n.2538G>T c.1017G>T (p.Lys339Asn) c.969G>T (p.Lys323Asn) c.894G>T (p.Lys298Asn) c.837G>T (p.Lys279Asn) | |
| 3 | g.30672126A>C | CA351808216 | TGFBR2 | c.943A>C (p.Thr315Pro) n.2539A>C c.1018A>C (p.Thr340Pro) c.970A>C (p.Thr324Pro) c.895A>C (p.Thr299Pro) c.838A>C (p.Thr280Pro) | dbSNP |
| 3 | g.30672126A>G | CA351808217 | TGFBR2 | c.943A>G (p.Thr315Ala) n.2539A>G c.1018A>G (p.Thr340Ala) c.970A>G (p.Thr324Ala) c.895A>G (p.Thr299Ala) c.838A>G (p.Thr280Ala) | dbSNP |
| 3 | g.30672126A>T | CA351808218 | TGFBR2 | c.943A>T (p.Thr315Ser) n.2539A>T c.1018A>T (p.Thr340Ser) c.970A>T (p.Thr324Ser) c.895A>T (p.Thr299Ser) c.838A>T (p.Thr280Ser) | dbSNP |
| 3 | g.30672127C>A | CA351808219 | TGFBR2 | c.944C>A (p.Thr315Lys) n.2540C>A c.1019C>A (p.Thr340Lys) c.971C>A (p.Thr324Lys) c.896C>A (p.Thr299Lys) c.839C>A (p.Thr280Lys) | dbSNP |
| 3 | g.30672127C= | CA1354873142 | TGFBR2 | c.944C= (p.Thr315=) n.2540C= c.1019C= (p.Thr340=) c.971C= (p.Thr324=) c.896C= (p.Thr299=) c.839C= (p.Thr280=) | |
| 3 | g.30672127C>G | CA351808220 | TGFBR2 | c.944C>G (p.Thr315Arg) n.2540C>G c.1019C>G (p.Thr340Arg) c.971C>G (p.Thr324Arg) c.896C>G (p.Thr299Arg) c.839C>G (p.Thr280Arg) | dbSNP |
| 3 | g.30672127C>T | CA020555 | TGFBR2 | c.944C>T (p.Thr315Met) n.2540C>T c.1019C>T (p.Thr340Met) c.971C>T (p.Thr324Met) c.896C>T (p.Thr299Met) c.839C>T (p.Thr280Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672128G>A | CA71528404 | TGFBR2 | c.945G>A (p.Thr315=) n.2541G>A c.1020G>A (p.Thr340=) c.972G>A (p.Thr324=) c.897G>A (p.Thr299=) c.840G>A (p.Thr280=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672128G>C | CA433058919 | TGFBR2 | c.945G>C (p.Thr315=) n.2541G>C c.1020G>C (p.Thr340=) c.972G>C (p.Thr324=) c.897G>C (p.Thr299=) c.840G>C (p.Thr280=) | dbSNP gnomAD v4 |
| 3 | g.30672128G= | CA1354873143 | TGFBR2 | c.945G= (p.Thr315=) n.2541G= c.1020G= (p.Thr340=) c.972G= (p.Thr324=) c.897G= (p.Thr299=) c.840G= (p.Thr280=) | |
| 3 | g.30672128G>T | CA433058920 | TGFBR2 | c.945G>T (p.Thr315=) n.2541G>T c.1020G>T (p.Thr340=) c.972G>T (p.Thr324=) c.897G>T (p.Thr299=) c.840G>T (p.Thr280=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672129G>A | CA351808221 | TGFBR2 | c.946G>A (p.Glu316Lys) n.2542G>A c.1021G>A (p.Glu341Lys) c.973G>A (p.Glu325Lys) c.898G>A (p.Glu300Lys) c.841G>A (p.Glu281Lys) | dbSNP |
| 3 | g.30672129G>C | CA351808222 | TGFBR2 | c.946G>C (p.Glu316Gln) n.2542G>C c.1021G>C (p.Glu341Gln) c.973G>C (p.Glu325Gln) c.898G>C (p.Glu300Gln) c.841G>C (p.Glu281Gln) | dbSNP |
| 3 | g.30672129G>T | CA351808223 | TGFBR2 | c.946G>T (p.Glu316Ter) n.2542G>T c.1021G>T (p.Glu341Ter) c.973G>T (p.Glu325Ter) c.898G>T (p.Glu300Ter) c.841G>T (p.Glu281Ter) | dbSNP |
| 3 | g.30672130A= | CA2580587341 | TGFBR2 | c.947A= (p.Glu316=) n.2543A= c.1022A= (p.Glu341=) c.974A= (p.Glu325=) c.899A= (p.Glu300=) c.842A= (p.Glu281=) | |
| 3 | g.30672130A>C | CA351808224 | TGFBR2 | c.947A>C (p.Glu316Ala) n.2543A>C c.1022A>C (p.Glu341Ala) c.974A>C (p.Glu325Ala) c.899A>C (p.Glu300Ala) c.842A>C (p.Glu281Ala) | |
| 3 | g.30672130A>G | CA351808225 | TGFBR2 | c.947A>G (p.Glu316Gly) n.2543A>G c.1022A>G (p.Glu341Gly) c.974A>G (p.Glu325Gly) c.899A>G (p.Glu300Gly) c.842A>G (p.Glu281Gly) | dbSNP gnomAD v4 |
| 3 | g.30672130A>T | CA71528409 | TGFBR2 | c.947A>T (p.Glu316Val) n.2543A>T c.1022A>T (p.Glu341Val) c.974A>T (p.Glu325Val) c.899A>T (p.Glu300Val) c.842A>T (p.Glu281Val) | dbSNP |
| 3 | g.30672131G>A | CA433058922 | TGFBR2 | c.948G>A (p.Glu316=) n.2544G>A c.1023G>A (p.Glu341=) c.975G>A (p.Glu325=) c.900G>A (p.Glu300=) c.843G>A (p.Glu281=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672131G>C | CA351808226 | TGFBR2 | c.948G>C (p.Glu316Asp) n.2544G>C c.1023G>C (p.Glu341Asp) c.975G>C (p.Glu325Asp) c.900G>C (p.Glu300Asp) c.843G>C (p.Glu281Asp) | dbSNP |
| 3 | g.30672131G= | CA1354873144 | TGFBR2 | c.948G= (p.Glu316=) n.2544G= c.1023G= (p.Glu341=) c.975G= (p.Glu325=) c.900G= (p.Glu300=) c.843G= (p.Glu281=) | |
| 3 | g.30672131G>T | CA351808227 | TGFBR2 | c.948G>T (p.Glu316Asp) n.2544G>T c.1023G>T (p.Glu341Asp) c.975G>T (p.Glu325Asp) c.900G>T (p.Glu300Asp) c.843G>T (p.Glu281Asp) | dbSNP |
| 3 | g.30672132T>A | CA351808229 | TGFBR2 | c.949T>A (p.Leu317Met) n.2545T>A c.1024T>A (p.Leu342Met) c.976T>A (p.Leu326Met) c.901T>A (p.Leu301Met) c.844T>A (p.Leu282Met) | dbSNP |
| 3 | g.30672132T>C | CA433058947 | TGFBR2 | c.949T>C (p.Leu317=) n.2545T>C c.1024T>C (p.Leu342=) c.976T>C (p.Leu326=) c.901T>C (p.Leu301=) c.844T>C (p.Leu282=) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672132T>G | CA351808228 | TGFBR2 | c.949T>G (p.Leu317Val) n.2545T>G c.1024T>G (p.Leu342Val) c.976T>G (p.Leu326Val) c.901T>G (p.Leu301Val) c.844T>G (p.Leu282Val) | dbSNP |
| 3 | g.30672132T= | CA1354873145 | TGFBR2 | c.949T= (p.Leu317=) n.2545T= c.1024T= (p.Leu342=) c.976T= (p.Leu326=) c.901T= (p.Leu301=) c.844T= (p.Leu282=) | |
| 3 | g.30672133T>A | CA351808230 | TGFBR2 | c.950T>A (p.Leu317Ter) n.2546T>A c.1025T>A (p.Leu342Ter) c.977T>A (p.Leu326Ter) c.902T>A (p.Leu301Ter) c.845T>A (p.Leu282Ter) | |
| 3 | g.30672133T>C | CA351808231 | TGFBR2 | c.950T>C (p.Leu317Ser) n.2546T>C c.1025T>C (p.Leu342Ser) c.977T>C (p.Leu326Ser) c.902T>C (p.Leu301Ser) c.845T>C (p.Leu282Ser) | |
| 3 | g.30672133T>G | CA351808232 | TGFBR2 | c.950T>G (p.Leu317Trp) n.2546T>G c.1025T>G (p.Leu342Trp) c.977T>G (p.Leu326Trp) c.902T>G (p.Leu301Trp) c.845T>G (p.Leu282Trp) | |
| 3 | g.30672134G>A | CA433058948 | TGFBR2 | c.951G>A (p.Leu317=) n.2547G>A c.1026G>A (p.Leu342=) c.978G>A (p.Leu326=) c.903G>A (p.Leu301=) c.846G>A (p.Leu282=) | ClinVar dbSNP |
| 3 | g.30672134G>C | CA351808233 | TGFBR2 | c.951G>C (p.Leu317Phe) n.2547G>C c.1026G>C (p.Leu342Phe) c.978G>C (p.Leu326Phe) c.903G>C (p.Leu301Phe) c.846G>C (p.Leu282Phe) | dbSNP |
| 3 | g.30672134G>T | CA351808234 | TGFBR2 | c.951G>T (p.Leu317Phe) n.2547G>T c.1026G>T (p.Leu342Phe) c.978G>T (p.Leu326Phe) c.903G>T (p.Leu301Phe) c.846G>T (p.Leu282Phe) | dbSNP gnomAD v4 |
| 3 | g.30672137del | CA645535106 | TGFBR2 | c.954del (p.Lys319AsnfsTer5) n.2550del c.1029del (p.Lys344AsnfsTer5) c.981del (p.Lys328AsnfsTer5) c.906del (p.Lys303AsnfsTer5) c.849del (p.Lys284AsnfsTer5) | COSMIC COSMIC |
| 3 | g.30672135G>A | CA351808237 | TGFBR2 | c.952G>A (p.Gly318Arg) n.2548G>A c.1027G>A (p.Gly343Arg) c.979G>A (p.Gly327Arg) c.904G>A (p.Gly302Arg) c.847G>A (p.Gly283Arg) | dbSNP |
| 3 | g.30672135G>C | CA351808236 | TGFBR2 | c.952G>C (p.Gly318Arg) n.2548G>C c.1027G>C (p.Gly343Arg) c.979G>C (p.Gly327Arg) c.904G>C (p.Gly302Arg) c.847G>C (p.Gly283Arg) | dbSNP |
| 3 | g.30672135G>T | CA351808235 | TGFBR2 | c.952G>T (p.Gly318Trp) n.2548G>T c.1027G>T (p.Gly343Trp) c.979G>T (p.Gly327Trp) c.904G>T (p.Gly302Trp) c.847G>T (p.Gly283Trp) | dbSNP |
| 3 | g.30672136G>A | CA351808238 | TGFBR2 | c.953G>A (p.Gly318Glu) n.2549G>A c.1028G>A (p.Gly343Glu) c.980G>A (p.Gly327Glu) c.905G>A (p.Gly302Glu) c.848G>A (p.Gly283Glu) | dbSNP |
| 3 | g.30672136G>C | CA050632 | TGFBR2 | c.953G>C (p.Gly318Ala) n.2549G>C c.1028G>C (p.Gly343Ala) c.980G>C (p.Gly327Ala) c.905G>C (p.Gly302Ala) c.848G>C (p.Gly283Ala) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.30672136G= | CA1354873146 | TGFBR2 | c.953G= (p.Gly318=) n.2549G= c.1028G= (p.Gly343=) c.980G= (p.Gly327=) c.905G= (p.Gly302=) c.848G= (p.Gly283=) | |
| 3 | g.30672136G>T | CA351808239 | TGFBR2 | c.953G>T (p.Gly318Val) n.2549G>T c.1028G>T (p.Gly343Val) c.980G>T (p.Gly327Val) c.905G>T (p.Gly302Val) c.848G>T (p.Gly283Val) | dbSNP |
| 3 | g.30672137G>A | CA433058949 | TGFBR2 | c.954G>A (p.Gly318=) n.2550G>A c.1029G>A (p.Gly343=) c.981G>A (p.Gly327=) c.906G>A (p.Gly302=) c.849G>A (p.Gly283=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672137G>C | CA433058950 | TGFBR2 | c.954G>C (p.Gly318=) n.2550G>C c.1029G>C (p.Gly343=) c.981G>C (p.Gly327=) c.906G>C (p.Gly302=) c.849G>C (p.Gly283=) | dbSNP |
| 3 | g.30672137G>T | CA433058951 | TGFBR2 | c.954G>T (p.Gly318=) n.2550G>T c.1029G>T (p.Gly343=) c.981G>T (p.Gly327=) c.906G>T (p.Gly302=) c.849G>T (p.Gly283=) | |
| 3 | g.30672138A>C | CA351808240 | TGFBR2 | c.955A>C (p.Lys319Gln) n.2551A>C c.1030A>C (p.Lys344Gln) c.982A>C (p.Lys328Gln) c.907A>C (p.Lys303Gln) c.850A>C (p.Lys284Gln) | |
| 3 | g.30672138A>G | CA351808241 | TGFBR2 | c.955A>G (p.Lys319Glu) n.2551A>G c.1030A>G (p.Lys344Glu) c.982A>G (p.Lys328Glu) c.907A>G (p.Lys303Glu) c.850A>G (p.Lys284Glu) | dbSNP |
| 3 | g.30672138A>T | CA351808242 | TGFBR2 | c.955A>T (p.Lys319Ter) n.2551A>T c.1030A>T (p.Lys344Ter) c.982A>T (p.Lys328Ter) c.907A>T (p.Lys303Ter) c.850A>T (p.Lys284Ter) | |
| 3 | g.30672139A= | CA1354873147 | TGFBR2 | c.956A= (p.Lys319=) n.2552A= c.1031A= (p.Lys344=) c.983A= (p.Lys328=) c.908A= (p.Lys303=) c.851A= (p.Lys284=) | |
| 3 | g.30672139A>C | CA351808245 | TGFBR2 | c.956A>C (p.Lys319Thr) n.2552A>C c.1031A>C (p.Lys344Thr) c.983A>C (p.Lys328Thr) c.908A>C (p.Lys303Thr) c.851A>C (p.Lys284Thr) | gnomAD v4 |
| 3 | g.30672139A>G | CA351808243 | TGFBR2 | c.956A>G (p.Lys319Arg) n.2552A>G c.1031A>G (p.Lys344Arg) c.983A>G (p.Lys328Arg) c.908A>G (p.Lys303Arg) c.851A>G (p.Lys284Arg) | ClinVar dbSNP |
| 3 | g.30672139A>T | CA351808244 | TGFBR2 | c.956A>T (p.Lys319Ile) n.2552A>T c.1031A>T (p.Lys344Ile) c.983A>T (p.Lys328Ile) c.908A>T (p.Lys303Ile) c.851A>T (p.Lys284Ile) |