| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30671965C>A | CA351807856 | TGFBR2 | c.782C>A (p.Ala261Asp) n.2378C>A c.857C>A (p.Ala286Asp) c.809C>A (p.Ala270Asp) c.734C>A (p.Ala245Asp) c.677C>A (p.Ala226Asp) | dbSNP |
| 3 | g.30671965C= | CA1354873072 | TGFBR2 | c.782C= (p.Ala261=) n.2378C= c.857C= (p.Ala286=) c.809C= (p.Ala270=) c.734C= (p.Ala245=) c.677C= (p.Ala226=) | |
| 3 | g.30671965C>G | CA351807857 | TGFBR2 | c.782C>G (p.Ala261Gly) n.2378C>G c.857C>G (p.Ala286Gly) c.809C>G (p.Ala270Gly) c.734C>G (p.Ala245Gly) c.677C>G (p.Ala226Gly) | dbSNP |
| 3 | g.30671965C>T | CA351807858 | TGFBR2 | c.782C>T (p.Ala261Val) n.2378C>T c.857C>T (p.Ala286Val) c.809C>T (p.Ala270Val) c.734C>T (p.Ala245Val) c.677C>T (p.Ala226Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671966C>A | CA433058655 | TGFBR2 | c.783C>A (p.Ala261=) n.2379C>A c.858C>A (p.Ala286=) c.810C>A (p.Ala270=) c.735C>A (p.Ala245=) c.678C>A (p.Ala226=) | dbSNP |
| 3 | g.30671966C>G | CA433058656 | TGFBR2 | c.783C>G (p.Ala261=) n.2379C>G c.858C>G (p.Ala286=) c.810C>G (p.Ala270=) c.735C>G (p.Ala245=) c.678C>G (p.Ala226=) | |
| 3 | g.30671966C>T | CA433058657 | TGFBR2 | c.783C>T (p.Ala261=) n.2379C>T c.858C>T (p.Ala286=) c.810C>T (p.Ala270=) c.735C>T (p.Ala245=) c.678C>T (p.Ala226=) | dbSNP |
| 3 | g.30671967A>C | CA351807859 | TGFBR2 | c.784A>C (p.Lys262Gln) n.2380A>C c.859A>C (p.Lys287Gln) c.811A>C (p.Lys271Gln) c.736A>C (p.Lys246Gln) c.679A>C (p.Lys227Gln) | |
| 3 | g.30671967A>G | CA351807860 | TGFBR2 | c.784A>G (p.Lys262Glu) n.2380A>G c.859A>G (p.Lys287Glu) c.811A>G (p.Lys271Glu) c.736A>G (p.Lys246Glu) c.679A>G (p.Lys227Glu) | |
| 3 | g.30671967A>T | CA351807861 | TGFBR2 | c.784A>T (p.Lys262Ter) n.2380A>T c.859A>T (p.Lys287Ter) c.811A>T (p.Lys271Ter) c.736A>T (p.Lys246Ter) c.679A>T (p.Lys227Ter) | dbSNP |
| 3 | g.30671968A>C | CA351807864 | TGFBR2 | c.785A>C (p.Lys262Thr) n.2381A>C c.860A>C (p.Lys287Thr) c.812A>C (p.Lys271Thr) c.737A>C (p.Lys246Thr) c.680A>C (p.Lys227Thr) | |
| 3 | g.30671968A>G | CA351807863 | TGFBR2 | c.785A>G (p.Lys262Arg) n.2381A>G c.860A>G (p.Lys287Arg) c.812A>G (p.Lys271Arg) c.737A>G (p.Lys246Arg) c.680A>G (p.Lys227Arg) | |
| 3 | g.30671968A>T | CA351807862 | TGFBR2 | c.785A>T (p.Lys262Met) n.2381A>T c.860A>T (p.Lys287Met) c.812A>T (p.Lys271Met) c.737A>T (p.Lys246Met) c.680A>T (p.Lys227Met) | |
| 3 | g.30671969G>A | CA433058665 | TGFBR2 | c.786G>A (p.Lys262=) n.2382G>A c.861G>A (p.Lys287=) c.813G>A (p.Lys271=) c.738G>A (p.Lys246=) c.681G>A (p.Lys227=) | ClinVar |
| 3 | g.30671969G>C | CA351807865 | TGFBR2 | c.786G>C (p.Lys262Asn) n.2382G>C c.861G>C (p.Lys287Asn) c.813G>C (p.Lys271Asn) c.738G>C (p.Lys246Asn) c.681G>C (p.Lys227Asn) | COSMIC |
| 3 | g.30671969G>T | CA351807866 | TGFBR2 | c.786G>T (p.Lys262Asn) n.2382G>T c.861G>T (p.Lys287Asn) c.813G>T (p.Lys271Asn) c.738G>T (p.Lys246Asn) c.681G>T (p.Lys227Asn) | |
| 3 | g.30671970C>A | CA351807867 | TGFBR2 | c.787C>A (p.Leu263Met) n.2383C>A c.862C>A (p.Leu288Met) c.814C>A (p.Leu272Met) c.739C>A (p.Leu247Met) c.682C>A (p.Leu228Met) | |
| 3 | g.30671970C>G | CA351807868 | TGFBR2 | c.787C>G (p.Leu263Val) n.2383C>G c.862C>G (p.Leu288Val) c.814C>G (p.Leu272Val) c.739C>G (p.Leu247Val) c.682C>G (p.Leu228Val) | gnomAD v4 |
| 3 | g.30671970C>T | CA433058670 | TGFBR2 | c.787C>T (p.Leu263=) n.2383C>T c.862C>T (p.Leu288=) c.814C>T (p.Leu272=) c.739C>T (p.Leu247=) c.682C>T (p.Leu228=) | |
| 3 | g.30671971T>A | CA351807869 | TGFBR2 | c.788T>A (p.Leu263Gln) n.2384T>A c.863T>A (p.Leu288Gln) c.815T>A (p.Leu272Gln) c.740T>A (p.Leu247Gln) c.683T>A (p.Leu228Gln) | |
| 3 | g.30671971T>C | CA351807870 | TGFBR2 | c.788T>C (p.Leu263Pro) n.2384T>C c.863T>C (p.Leu288Pro) c.815T>C (p.Leu272Pro) c.740T>C (p.Leu247Pro) c.683T>C (p.Leu228Pro) | |
| 3 | g.30671971T>G | CA351807871 | TGFBR2 | c.788T>G (p.Leu263Arg) n.2384T>G c.863T>G (p.Leu288Arg) c.815T>G (p.Leu272Arg) c.740T>G (p.Leu247Arg) c.683T>G (p.Leu228Arg) | |
| 3 | g.30671972G>A | CA433058673 | TGFBR2 | c.789G>A (p.Leu263=) n.2385G>A c.864G>A (p.Leu288=) c.816G>A (p.Leu272=) c.741G>A (p.Leu247=) c.684G>A (p.Leu228=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.30671972G>C | CA433058672 | TGFBR2 | c.789G>C (p.Leu263=) n.2385G>C c.864G>C (p.Leu288=) c.816G>C (p.Leu272=) c.741G>C (p.Leu247=) c.684G>C (p.Leu228=) | |
| 3 | g.30671972G>T | CA433058671 | TGFBR2 | c.789G>T (p.Leu263=) n.2385G>T c.864G>T (p.Leu288=) c.816G>T (p.Leu272=) c.741G>T (p.Leu247=) c.684G>T (p.Leu228=) | dbSNP |
| 3 | g.30671973A>C | CA351807872 | TGFBR2 | c.790A>C (p.Lys264Gln) n.2386A>C c.865A>C (p.Lys289Gln) c.817A>C (p.Lys273Gln) c.742A>C (p.Lys248Gln) c.685A>C (p.Lys229Gln) | gnomAD v4 |
| 3 | g.30671973A>G | CA351807873 | TGFBR2 | c.790A>G (p.Lys264Glu) n.2386A>G c.865A>G (p.Lys289Glu) c.817A>G (p.Lys273Glu) c.742A>G (p.Lys248Glu) c.685A>G (p.Lys229Glu) | |
| 3 | g.30671973A>T | CA351807874 | TGFBR2 | c.790A>T (p.Lys264Ter) n.2386A>T c.865A>T (p.Lys289Ter) c.817A>T (p.Lys273Ter) c.742A>T (p.Lys248Ter) c.685A>T (p.Lys229Ter) | |
| 3 | g.30671974A= | CA1354873073 | TGFBR2 | c.791A= (p.Lys264=) n.2387A= c.866A= (p.Lys289=) c.818A= (p.Lys273=) c.743A= (p.Lys248=) c.686A= (p.Lys229=) | |
| 3 | g.30671974A>C | CA71528114 | TGFBR2 | c.791A>C (p.Lys264Thr) n.2387A>C c.866A>C (p.Lys289Thr) c.818A>C (p.Lys273Thr) c.743A>C (p.Lys248Thr) c.686A>C (p.Lys229Thr) | dbSNP |
| 3 | g.30671974A>G | CA351807875 | TGFBR2 | c.791A>G (p.Lys264Arg) n.2387A>G c.866A>G (p.Lys289Arg) c.818A>G (p.Lys273Arg) c.743A>G (p.Lys248Arg) c.686A>G (p.Lys229Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30671974A>T | CA351807876 | TGFBR2 | c.791A>T (p.Lys264Met) n.2387A>T c.866A>T (p.Lys289Met) c.818A>T (p.Lys273Met) c.743A>T (p.Lys248Met) c.686A>T (p.Lys229Met) | |
| 3 | g.30671975G>A | CA433058677 | TGFBR2 | c.792G>A (p.Lys264=) n.2388G>A c.867G>A (p.Lys289=) c.819G>A (p.Lys273=) c.744G>A (p.Lys248=) c.687G>A (p.Lys229=) | dbSNP |
| 3 | g.30671975G>C | CA351807877 | TGFBR2 | c.792G>C (p.Lys264Asn) n.2388G>C c.867G>C (p.Lys289Asn) c.819G>C (p.Lys273Asn) c.744G>C (p.Lys248Asn) c.687G>C (p.Lys229Asn) | dbSNP |
| 3 | g.30671975G>T | CA351807878 | TGFBR2 | c.792G>T (p.Lys264Asn) n.2388G>T c.867G>T (p.Lys289Asn) c.819G>T (p.Lys273Asn) c.744G>T (p.Lys248Asn) c.687G>T (p.Lys229Asn) | |
| 3 | g.30671976C>A | CA351807879 | TGFBR2 | c.793C>A (p.Gln265Lys) n.2389C>A c.868C>A (p.Gln290Lys) c.820C>A (p.Gln274Lys) c.745C>A (p.Gln249Lys) c.688C>A (p.Gln230Lys) | dbSNP |
| 3 | g.30671976C>G | CA351807880 | TGFBR2 | c.793C>G (p.Gln265Glu) n.2389C>G c.868C>G (p.Gln290Glu) c.820C>G (p.Gln274Glu) c.745C>G (p.Gln249Glu) c.688C>G (p.Gln230Glu) | ClinVar dbSNP |
| 3 | g.30671976C>T | CA351807881 | TGFBR2 | c.793C>T (p.Gln265Ter) n.2389C>T c.868C>T (p.Gln290Ter) c.820C>T (p.Gln274Ter) c.745C>T (p.Gln249Ter) c.688C>T (p.Gln230Ter) | COSMIC COSMIC |
| 3 | g.30671977A>C | CA351807884 | TGFBR2 | c.794A>C (p.Gln265Pro) n.2390A>C c.869A>C (p.Gln290Pro) c.821A>C (p.Gln274Pro) c.746A>C (p.Gln249Pro) c.689A>C (p.Gln230Pro) | |
| 3 | g.30671977A>G | CA351807882 | TGFBR2 | c.794A>G (p.Gln265Arg) n.2390A>G c.869A>G (p.Gln290Arg) c.821A>G (p.Gln274Arg) c.746A>G (p.Gln249Arg) c.689A>G (p.Gln230Arg) | |
| 3 | g.30671977A>T | CA351807883 | TGFBR2 | c.794A>T (p.Gln265Leu) n.2390A>T c.869A>T (p.Gln290Leu) c.821A>T (p.Gln274Leu) c.746A>T (p.Gln249Leu) c.689A>T (p.Gln230Leu) | dbSNP |
| 3 | g.30671978G>A | CA433058683 | TGFBR2 | c.795G>A (p.Gln265=) n.2391G>A c.870G>A (p.Gln290=) c.822G>A (p.Gln274=) c.747G>A (p.Gln249=) c.690G>A (p.Gln230=) | dbSNP |
| 3 | g.30671978G>C | CA351807885 | TGFBR2 | c.795G>C (p.Gln265His) n.2391G>C c.870G>C (p.Gln290His) c.822G>C (p.Gln274His) c.747G>C (p.Gln249His) c.690G>C (p.Gln230His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30671978G= | CA1354873074 | TGFBR2 | c.795G= (p.Gln265=) n.2391G= c.870G= (p.Gln290=) c.822G= (p.Gln274=) c.747G= (p.Gln249=) c.690G= (p.Gln230=) | |
| 3 | g.30671978G>T | CA351807886 | TGFBR2 | c.795G>T (p.Gln265His) n.2391G>T c.870G>T (p.Gln290His) c.822G>T (p.Gln274His) c.747G>T (p.Gln249His) c.690G>T (p.Gln230His) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30671979A>C | CA351807887 | TGFBR2 | c.796A>C (p.Asn266His) n.2392A>C c.871A>C (p.Asn291His) c.823A>C (p.Asn275His) c.748A>C (p.Asn250His) c.691A>C (p.Asn231His) | |
| 3 | g.30671979A>G | CA351807888 | TGFBR2 | c.796A>G (p.Asn266Asp) n.2392A>G c.871A>G (p.Asn291Asp) c.823A>G (p.Asn275Asp) c.748A>G (p.Asn250Asp) c.691A>G (p.Asn231Asp) | |
| 3 | g.30671979A>T | CA351807889 | TGFBR2 | c.796A>T (p.Asn266Tyr) n.2392A>T c.871A>T (p.Asn291Tyr) c.823A>T (p.Asn275Tyr) c.748A>T (p.Asn250Tyr) c.691A>T (p.Asn231Tyr) | |
| 3 | g.30671980A= | CA1354873075 | TGFBR2 | c.797A= (p.Asn266=) n.2393A= c.872A= (p.Asn291=) c.824A= (p.Asn275=) c.749A= (p.Asn250=) c.692A= (p.Asn231=) | |
| 3 | g.30671980A>C | CA351807890 | TGFBR2 | c.797A>C (p.Asn266Thr) n.2393A>C c.872A>C (p.Asn291Thr) c.824A>C (p.Asn275Thr) c.749A>C (p.Asn250Thr) c.692A>C (p.Asn231Thr) | |
| 3 | g.30671980A>G | CA049908 | TGFBR2 | c.797A>G (p.Asn266Ser) n.2393A>G c.872A>G (p.Asn291Ser) c.824A>G (p.Asn275Ser) c.749A>G (p.Asn250Ser) c.692A>G (p.Asn231Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.30671980A>T | CA351807891 | TGFBR2 | c.797A>T (p.Asn266Ile) n.2393A>T c.872A>T (p.Asn291Ile) c.824A>T (p.Asn275Ile) c.749A>T (p.Asn250Ile) c.692A>T (p.Asn231Ile) | |
| 3 | g.30671981C>A | CA351807892 | TGFBR2 | c.798C>A (p.Asn266Lys) n.2394C>A c.873C>A (p.Asn291Lys) c.825C>A (p.Asn275Lys) c.750C>A (p.Asn250Lys) c.693C>A (p.Asn231Lys) | dbSNP |
| 3 | g.30671981C>G | CA351807893 | TGFBR2 | c.798C>G (p.Asn266Lys) n.2394C>G c.873C>G (p.Asn291Lys) c.825C>G (p.Asn275Lys) c.750C>G (p.Asn250Lys) c.693C>G (p.Asn231Lys) | |
| 3 | g.30671981C>T | CA433058692 | TGFBR2 | c.798C>T (p.Asn266=) n.2394C>T c.873C>T (p.Asn291=) c.825C>T (p.Asn275=) c.750C>T (p.Asn250=) c.693C>T (p.Asn231=) | ClinVar |
| 3 | g.30671982A= | CA1354873076 | TGFBR2 | c.799A= (p.Thr267=) n.2395A= c.874A= (p.Thr292=) c.826A= (p.Thr276=) c.751A= (p.Thr251=) c.694A= (p.Thr232=) | |
| 3 | g.30671982A>C | CA351807894 | TGFBR2 | c.799A>C (p.Thr267Pro) n.2395A>C c.874A>C (p.Thr292Pro) c.826A>C (p.Thr276Pro) c.751A>C (p.Thr251Pro) c.694A>C (p.Thr232Pro) | |
| 3 | g.30671982A>G | CA351807895 | TGFBR2 | c.799A>G (p.Thr267Ala) n.2395A>G c.874A>G (p.Thr292Ala) c.826A>G (p.Thr276Ala) c.751A>G (p.Thr251Ala) c.694A>G (p.Thr232Ala) | dbSNP |
| 3 | g.30671982A>T | CA351807896 | TGFBR2 | c.799A>T (p.Thr267Ser) n.2395A>T c.874A>T (p.Thr292Ser) c.826A>T (p.Thr276Ser) c.751A>T (p.Thr251Ser) c.694A>T (p.Thr232Ser) | dbSNP gnomAD v4 |
| 3 | g.30671983C>A | CA351807897 | TGFBR2 | c.800C>A (p.Thr267Asn) n.2396C>A c.875C>A (p.Thr292Asn) c.827C>A (p.Thr276Asn) c.752C>A (p.Thr251Asn) c.695C>A (p.Thr232Asn) | dbSNP |
| 3 | g.30671983C= | CA1354873077 | TGFBR2 | c.800C= (p.Thr267=) n.2396C= c.875C= (p.Thr292=) c.827C= (p.Thr276=) c.752C= (p.Thr251=) c.695C= (p.Thr232=) | |
| 3 | g.30671983C>G | CA351807898 | TGFBR2 | c.800C>G (p.Thr267Ser) n.2396C>G c.875C>G (p.Thr292Ser) c.827C>G (p.Thr276Ser) c.752C>G (p.Thr251Ser) c.695C>G (p.Thr232Ser) | dbSNP |
| 3 | g.30671983C>T | CA71528125 | TGFBR2 | c.800C>T (p.Thr267Ile) n.2396C>T c.875C>T (p.Thr292Ile) c.827C>T (p.Thr276Ile) c.752C>T (p.Thr251Ile) c.695C>T (p.Thr232Ile) | dbSNP |
| 3 | g.30671984T>A | CA433058698 | TGFBR2 | c.801T>A (p.Thr267=) n.2397T>A c.876T>A (p.Thr292=) c.828T>A (p.Thr276=) c.753T>A (p.Thr251=) c.696T>A (p.Thr232=) | ClinVar gnomAD v4 |
| 3 | g.30671984T>C | CA433058699 | TGFBR2 | c.801T>C (p.Thr267=) n.2397T>C c.876T>C (p.Thr292=) c.828T>C (p.Thr276=) c.753T>C (p.Thr251=) c.696T>C (p.Thr232=) | gnomAD v4 |
| 3 | g.30671984T>G | CA433058702 | TGFBR2 | c.801T>G (p.Thr267=) n.2397T>G c.876T>G (p.Thr292=) c.828T>G (p.Thr276=) c.753T>G (p.Thr251=) c.696T>G (p.Thr232=) | |
| 3 | g.30671985T>A | CA351807899 | TGFBR2 | c.802T>A (p.Ser268Thr) n.2398T>A c.877T>A (p.Ser293Thr) c.829T>A (p.Ser277Thr) c.754T>A (p.Ser252Thr) c.697T>A (p.Ser233Thr) | |
| 3 | g.30671985T>C | CA351807900 | TGFBR2 | c.802T>C (p.Ser268Pro) n.2398T>C c.877T>C (p.Ser293Pro) c.829T>C (p.Ser277Pro) c.754T>C (p.Ser252Pro) c.697T>C (p.Ser233Pro) | |
| 3 | g.30671985T>G | CA351807901 | TGFBR2 | c.802T>G (p.Ser268Ala) n.2398T>G c.877T>G (p.Ser293Ala) c.829T>G (p.Ser277Ala) c.754T>G (p.Ser252Ala) c.697T>G (p.Ser233Ala) | |
| 3 | g.30671986C>A | CA351807902 | TGFBR2 | c.803C>A (p.Ser268Ter) n.2399C>A c.878C>A (p.Ser293Ter) c.830C>A (p.Ser277Ter) c.755C>A (p.Ser252Ter) c.698C>A (p.Ser233Ter) | dbSNP |
| 3 | g.30671986C= | CA1354873078 | TGFBR2 | c.803C= (p.Ser268=) n.2399C= c.878C= (p.Ser293=) c.830C= (p.Ser277=) c.755C= (p.Ser252=) c.698C= (p.Ser233=) | |
| 3 | g.30671986C>G | CA351807903 | TGFBR2 | c.803C>G (p.Ser268Ter) n.2399C>G c.878C>G (p.Ser293Ter) c.830C>G (p.Ser277Ter) c.755C>G (p.Ser252Ter) c.698C>G (p.Ser233Ter) | dbSNP |
| 3 | g.30671986C>T | CA049919 | TGFBR2 | c.803C>T (p.Ser268Leu) n.2399C>T c.878C>T (p.Ser293Leu) c.830C>T (p.Ser277Leu) c.755C>T (p.Ser252Leu) c.698C>T (p.Ser233Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671987A>C | CA433058704 | TGFBR2 | c.804A>C (p.Ser268=) n.2400A>C c.879A>C (p.Ser293=) c.831A>C (p.Ser277=) c.756A>C (p.Ser252=) c.699A>C (p.Ser233=) | |
| 3 | g.30671987A>G | CA433058705 | TGFBR2 | c.804A>G (p.Ser268=) n.2400A>G c.879A>G (p.Ser293=) c.831A>G (p.Ser277=) c.756A>G (p.Ser252=) c.699A>G (p.Ser233=) | |
| 3 | g.30671987A>T | CA433058706 | TGFBR2 | c.804A>T (p.Ser268=) n.2400A>T c.879A>T (p.Ser293=) c.831A>T (p.Ser277=) c.756A>T (p.Ser252=) c.699A>T (p.Ser233=) | dbSNP |
| 3 | g.30671988G>A | CA351807904 | TGFBR2 | c.805G>A (p.Glu269Lys) n.2401G>A c.880G>A (p.Glu294Lys) c.832G>A (p.Glu278Lys) c.757G>A (p.Glu253Lys) c.700G>A (p.Glu234Lys) | dbSNP gnomAD v4 |
| 3 | g.30671988G>C | CA351807905 | TGFBR2 | c.805G>C (p.Glu269Gln) n.2401G>C c.880G>C (p.Glu294Gln) c.832G>C (p.Glu278Gln) c.757G>C (p.Glu253Gln) c.700G>C (p.Glu234Gln) | dbSNP |
| 3 | g.30671988G= | CA1354873079 | TGFBR2 | c.805G= (p.Glu269=) n.2401G= c.880G= (p.Glu294=) c.832G= (p.Glu278=) c.757G= (p.Glu253=) c.700G= (p.Glu234=) | |
| 3 | g.30671988G>T | CA351807906 | TGFBR2 | c.805G>T (p.Glu269Ter) n.2401G>T c.880G>T (p.Glu294Ter) c.832G>T (p.Glu278Ter) c.757G>T (p.Glu253Ter) c.700G>T (p.Glu234Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30671989A= | CA1354873080 | TGFBR2 | c.806A= (p.Glu269=) n.2402A= c.881A= (p.Glu294=) c.833A= (p.Glu278=) c.758A= (p.Glu253=) c.701A= (p.Glu234=) | |
| 3 | g.30671989A>C | CA351807907 | TGFBR2 | c.806A>C (p.Glu269Ala) n.2402A>C c.881A>C (p.Glu294Ala) c.833A>C (p.Glu278Ala) c.758A>C (p.Glu253Ala) c.701A>C (p.Glu234Ala) | |
| 3 | g.30671989A>G | CA351807908 | TGFBR2 | c.806A>G (p.Glu269Gly) n.2402A>G c.881A>G (p.Glu294Gly) c.833A>G (p.Glu278Gly) c.758A>G (p.Glu253Gly) c.701A>G (p.Glu234Gly) | dbSNP gnomAD v4 |
| 3 | g.30671989A>T | CA351807909 | TGFBR2 | c.806A>T (p.Glu269Val) n.2402A>T c.881A>T (p.Glu294Val) c.833A>T (p.Glu278Val) c.758A>T (p.Glu253Val) c.701A>T (p.Glu234Val) | dbSNP |
| 3 | g.30671990G>A | CA433058711 | TGFBR2 | c.807G>A (p.Glu269=) n.2403G>A c.882G>A (p.Glu294=) c.834G>A (p.Glu278=) c.759G>A (p.Glu253=) c.702G>A (p.Glu234=) | dbSNP |
| 3 | g.30671990G>C | CA351807911 | TGFBR2 | c.807G>C (p.Glu269Asp) n.2403G>C c.882G>C (p.Glu294Asp) c.834G>C (p.Glu278Asp) c.759G>C (p.Glu253Asp) c.702G>C (p.Glu234Asp) | dbSNP |
| 3 | g.30671990G= | CA1354873081 | TGFBR2 | c.807G= (p.Glu269=) n.2403G= c.882G= (p.Glu294=) c.834G= (p.Glu278=) c.759G= (p.Glu253=) c.702G= (p.Glu234=) | |
| 3 | g.30671990G>T | CA351807910 | TGFBR2 | c.807G>T (p.Glu269Asp) n.2403G>T c.882G>T (p.Glu294Asp) c.834G>T (p.Glu278Asp) c.759G>T (p.Glu253Asp) c.702G>T (p.Glu234Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30671991C>A | CA351807912 | TGFBR2 | c.808C>A (p.Gln270Lys) n.2404C>A c.883C>A (p.Gln295Lys) c.835C>A (p.Gln279Lys) c.760C>A (p.Gln254Lys) c.703C>A (p.Gln235Lys) | dbSNP |
| 3 | g.30671991C>G | CA351807913 | TGFBR2 | c.808C>G (p.Gln270Glu) n.2404C>G c.883C>G (p.Gln295Glu) c.835C>G (p.Gln279Glu) c.760C>G (p.Gln254Glu) c.703C>G (p.Gln235Glu) | dbSNP |
| 3 | g.30671991C>T | CA351807914 | TGFBR2 | c.808C>T (p.Gln270Ter) n.2404C>T c.883C>T (p.Gln295Ter) c.835C>T (p.Gln279Ter) c.760C>T (p.Gln254Ter) c.703C>T (p.Gln235Ter) | dbSNP |
| 3 | g.30671992A= | CA1354873082 | TGFBR2 | c.809A= (p.Gln270=) n.2405A= c.884A= (p.Gln295=) c.836A= (p.Gln279=) c.761A= (p.Gln254=) c.704A= (p.Gln235=) | |
| 3 | g.30671992A>C | CA351807915 | TGFBR2 | c.809A>C (p.Gln270Pro) n.2405A>C c.884A>C (p.Gln295Pro) c.836A>C (p.Gln279Pro) c.761A>C (p.Gln254Pro) c.704A>C (p.Gln235Pro) | |
| 3 | g.30671992A>G | CA351807916 | TGFBR2 | c.809A>G (p.Gln270Arg) n.2405A>G c.884A>G (p.Gln295Arg) c.836A>G (p.Gln279Arg) c.761A>G (p.Gln254Arg) c.704A>G (p.Gln235Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30671992A>T | CA351807917 | TGFBR2 | c.809A>T (p.Gln270Leu) n.2405A>T c.884A>T (p.Gln295Leu) c.836A>T (p.Gln279Leu) c.761A>T (p.Gln254Leu) c.704A>T (p.Gln235Leu) | dbSNP |
| 3 | g.30671993G>A | CA049934 | TGFBR2 | c.810G>A (p.Gln270=) n.2406G>A c.885G>A (p.Gln295=) c.837G>A (p.Gln279=) c.762G>A (p.Gln254=) c.705G>A (p.Gln235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30671993G>C | CA351807918 | TGFBR2 | c.810G>C (p.Gln270His) n.2406G>C c.885G>C (p.Gln295His) c.837G>C (p.Gln279His) c.762G>C (p.Gln254His) c.705G>C (p.Gln235His) | |
| 3 | g.30671993G= | CA1354873083 | TGFBR2 | c.810G= (p.Gln270=) n.2406G= c.885G= (p.Gln295=) c.837G= (p.Gln279=) c.762G= (p.Gln254=) c.705G= (p.Gln235=) | |
| 3 | g.30671993G>T | CA351807919 | TGFBR2 | c.810G>T (p.Gln270His) n.2406G>T c.885G>T (p.Gln295His) c.837G>T (p.Gln279His) c.762G>T (p.Gln254His) c.705G>T (p.Gln235His) | |
| 3 | g.30671994T>A | CA351807920 | TGFBR2 | c.811T>A (p.Phe271Ile) n.2407T>A c.886T>A (p.Phe296Ile) c.838T>A (p.Phe280Ile) c.763T>A (p.Phe255Ile) c.706T>A (p.Phe236Ile) | dbSNP gnomAD v4 |
| 3 | g.30671994T>C | CA351807921 | TGFBR2 | c.811T>C (p.Phe271Leu) n.2407T>C c.886T>C (p.Phe296Leu) c.838T>C (p.Phe280Leu) c.763T>C (p.Phe255Leu) c.706T>C (p.Phe236Leu) | |
| 3 | g.30671994T>G | CA351807922 | TGFBR2 | c.811T>G (p.Phe271Val) n.2407T>G c.886T>G (p.Phe296Val) c.838T>G (p.Phe280Val) c.763T>G (p.Phe255Val) c.706T>G (p.Phe236Val) | |
| 3 | g.30671995T>A | CA351807925 | TGFBR2 | c.812T>A (p.Phe271Tyr) n.2408T>A c.887T>A (p.Phe296Tyr) c.839T>A (p.Phe280Tyr) c.764T>A (p.Phe255Tyr) c.707T>A (p.Phe236Tyr) | |
| 3 | g.30671995T>C | CA351807924 | TGFBR2 | c.812T>C (p.Phe271Ser) n.2408T>C c.887T>C (p.Phe296Ser) c.839T>C (p.Phe280Ser) c.764T>C (p.Phe255Ser) c.707T>C (p.Phe236Ser) | |
| 3 | g.30671995T>G | CA351807923 | TGFBR2 | c.812T>G (p.Phe271Cys) n.2408T>G c.887T>G (p.Phe296Cys) c.839T>G (p.Phe280Cys) c.764T>G (p.Phe255Cys) c.707T>G (p.Phe236Cys) | |
| 3 | g.30671996T>A | CA351807926 | TGFBR2 | c.813T>A (p.Phe271Leu) n.2409T>A c.888T>A (p.Phe296Leu) c.840T>A (p.Phe280Leu) c.765T>A (p.Phe255Leu) c.708T>A (p.Phe236Leu) | |
| 3 | g.30671996T>C | CA433058724 | TGFBR2 | c.813T>C (p.Phe271=) n.2409T>C c.888T>C (p.Phe296=) c.840T>C (p.Phe280=) c.765T>C (p.Phe255=) c.708T>C (p.Phe236=) | dbSNP gnomAD v4 |
| 3 | g.30671996T>G | CA351807927 | TGFBR2 | c.813T>G (p.Phe271Leu) n.2409T>G c.888T>G (p.Phe296Leu) c.840T>G (p.Phe280Leu) c.765T>G (p.Phe255Leu) c.708T>G (p.Phe236Leu) | |
| 3 | g.30671997G>A | CA351807928 | TGFBR2 | c.814G>A (p.Glu272Lys) n.2410G>A c.889G>A (p.Glu297Lys) c.841G>A (p.Glu281Lys) c.766G>A (p.Glu256Lys) c.709G>A (p.Glu237Lys) | dbSNP |
| 3 | g.30671997G>C | CA351807929 | TGFBR2 | c.814G>C (p.Glu272Gln) n.2410G>C c.889G>C (p.Glu297Gln) c.841G>C (p.Glu281Gln) c.766G>C (p.Glu256Gln) c.709G>C (p.Glu237Gln) | dbSNP |
| 3 | g.30671997G>T | CA351807930 | TGFBR2 | c.814G>T (p.Glu272Ter) n.2410G>T c.889G>T (p.Glu297Ter) c.841G>T (p.Glu281Ter) c.766G>T (p.Glu256Ter) c.709G>T (p.Glu237Ter) | dbSNP |
| 3 | g.30671998A>C | CA351807931 | TGFBR2 | c.815A>C (p.Glu272Ala) n.2411A>C c.890A>C (p.Glu297Ala) c.842A>C (p.Glu281Ala) c.767A>C (p.Glu256Ala) c.710A>C (p.Glu237Ala) | |
| 3 | g.30671998A>G | CA351807932 | TGFBR2 | c.815A>G (p.Glu272Gly) n.2411A>G c.890A>G (p.Glu297Gly) c.842A>G (p.Glu281Gly) c.767A>G (p.Glu256Gly) c.710A>G (p.Glu237Gly) | dbSNP |
| 3 | g.30671998A>T | CA351807933 | TGFBR2 | c.815A>T (p.Glu272Val) n.2411A>T c.890A>T (p.Glu297Val) c.842A>T (p.Glu281Val) c.767A>T (p.Glu256Val) c.710A>T (p.Glu237Val) | dbSNP |
| 3 | g.30671999G>A | CA433058730 | TGFBR2 | c.816G>A (p.Glu272=) n.2412G>A c.891G>A (p.Glu297=) c.843G>A (p.Glu281=) c.768G>A (p.Glu256=) c.711G>A (p.Glu237=) | dbSNP |
| 3 | g.30671999G>C | CA351807935 | TGFBR2 | c.816G>C (p.Glu272Asp) n.2412G>C c.891G>C (p.Glu297Asp) c.843G>C (p.Glu281Asp) c.768G>C (p.Glu256Asp) c.711G>C (p.Glu237Asp) | dbSNP |
| 3 | g.30671999G>T | CA351807934 | TGFBR2 | c.816G>T (p.Glu272Asp) n.2412G>T c.891G>T (p.Glu297Asp) c.843G>T (p.Glu281Asp) c.768G>T (p.Glu256Asp) c.711G>T (p.Glu237Asp) | |
| 3 | g.30672000A>C | CA351807936 | TGFBR2 | c.817A>C (p.Thr273Pro) n.2413A>C c.892A>C (p.Thr298Pro) c.844A>C (p.Thr282Pro) c.769A>C (p.Thr257Pro) c.712A>C (p.Thr238Pro) | dbSNP |
| 3 | g.30672000A>G | CA351807937 | TGFBR2 | c.817A>G (p.Thr273Ala) n.2413A>G c.892A>G (p.Thr298Ala) c.844A>G (p.Thr282Ala) c.769A>G (p.Thr257Ala) c.712A>G (p.Thr238Ala) | |
| 3 | g.30672000A>T | CA351807938 | TGFBR2 | c.817A>T (p.Thr273Ser) n.2413A>T c.892A>T (p.Thr298Ser) c.844A>T (p.Thr282Ser) c.769A>T (p.Thr257Ser) c.712A>T (p.Thr238Ser) | |
| 3 | g.30672001C>A | CA351807939 | TGFBR2 | c.818C>A (p.Thr273Lys) n.2414C>A c.893C>A (p.Thr298Lys) c.845C>A (p.Thr282Lys) c.770C>A (p.Thr257Lys) c.713C>A (p.Thr238Lys) | dbSNP |
| 3 | g.30672001C= | CA1354873084 | TGFBR2 | c.818C= (p.Thr273=) n.2414C= c.893C= (p.Thr298=) c.845C= (p.Thr282=) c.770C= (p.Thr257=) c.713C= (p.Thr238=) | |
| 3 | g.30672001C>G | CA351807940 | TGFBR2 | c.818C>G (p.Thr273Arg) n.2414C>G c.893C>G (p.Thr298Arg) c.845C>G (p.Thr282Arg) c.770C>G (p.Thr257Arg) c.713C>G (p.Thr238Arg) | dbSNP |
| 3 | g.30672001C>T | CA351807941 | TGFBR2 | c.818C>T (p.Thr273Ile) n.2414C>T c.893C>T (p.Thr298Ile) c.845C>T (p.Thr282Ile) c.770C>T (p.Thr257Ile) c.713C>T (p.Thr238Ile) | dbSNP |
| 3 | g.30672002A>C | CA433058733 | TGFBR2 | c.819A>C (p.Thr273=) n.2415A>C c.894A>C (p.Thr298=) c.846A>C (p.Thr282=) c.771A>C (p.Thr257=) c.714A>C (p.Thr238=) | |
| 3 | g.30672002A>G | CA433058734 | TGFBR2 | c.819A>G (p.Thr273=) n.2415A>G c.894A>G (p.Thr298=) c.846A>G (p.Thr282=) c.771A>G (p.Thr257=) c.714A>G (p.Thr238=) | |
| 3 | g.30672002A>T | CA433058735 | TGFBR2 | c.819A>T (p.Thr273=) n.2415A>T c.894A>T (p.Thr298=) c.846A>T (p.Thr282=) c.771A>T (p.Thr257=) c.714A>T (p.Thr238=) | dbSNP |
| 3 | g.30672003G>A | CA351807942 | TGFBR2 | c.820G>A (p.Val274Met) n.2416G>A c.895G>A (p.Val299Met) c.847G>A (p.Val283Met) c.772G>A (p.Val258Met) c.715G>A (p.Val239Met) | dbSNP |
| 3 | g.30672003G>C | CA351807944 | TGFBR2 | c.820G>C (p.Val274Leu) n.2416G>C c.895G>C (p.Val299Leu) c.847G>C (p.Val283Leu) c.772G>C (p.Val258Leu) c.715G>C (p.Val239Leu) | dbSNP |
| 3 | g.30672003G>T | CA351807943 | TGFBR2 | c.820G>T (p.Val274Leu) n.2416G>T c.895G>T (p.Val299Leu) c.847G>T (p.Val283Leu) c.772G>T (p.Val258Leu) c.715G>T (p.Val239Leu) | |
| 3 | g.30672004T>A | CA351807945 | TGFBR2 | c.821T>A (p.Val274Glu) n.2417T>A c.896T>A (p.Val299Glu) c.848T>A (p.Val283Glu) c.773T>A (p.Val258Glu) c.716T>A (p.Val239Glu) | |
| 3 | g.30672004T>C | CA351807946 | TGFBR2 | c.821T>C (p.Val274Ala) n.2417T>C c.896T>C (p.Val299Ala) c.848T>C (p.Val283Ala) c.773T>C (p.Val258Ala) c.716T>C (p.Val239Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672004T>G | CA351807947 | TGFBR2 | c.821T>G (p.Val274Gly) n.2417T>G c.896T>G (p.Val299Gly) c.848T>G (p.Val283Gly) c.773T>G (p.Val258Gly) c.716T>G (p.Val239Gly) | |
| 3 | g.30672004T= | CA1354873085 | TGFBR2 | c.821T= (p.Val274=) n.2417T= c.896T= (p.Val299=) c.848T= (p.Val283=) c.773T= (p.Val258=) c.716T= (p.Val239=) | |
| 3 | g.30672005G>A | CA049946 | TGFBR2 | c.822G>A (p.Val274=) n.2418G>A c.897G>A (p.Val299=) c.849G>A (p.Val283=) c.774G>A (p.Val258=) c.717G>A (p.Val239=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672005G>C | CA433058779 | TGFBR2 | c.822G>C (p.Val274=) n.2418G>C c.897G>C (p.Val299=) c.849G>C (p.Val283=) c.774G>C (p.Val258=) c.717G>C (p.Val239=) | |
| 3 | g.30672005G= | CA1354873086 | TGFBR2 | c.822G= (p.Val274=) n.2418G= c.897G= (p.Val299=) c.849G= (p.Val283=) c.774G= (p.Val258=) c.717G= (p.Val239=) | |
| 3 | g.30672005G>T | CA433058778 | TGFBR2 | c.822G>T (p.Val274=) n.2418G>T c.897G>T (p.Val299=) c.849G>T (p.Val283=) c.774G>T (p.Val258=) c.717G>T (p.Val239=) | dbSNP |
| 3 | g.30672006G>A | CA351807948 | TGFBR2 | c.823G>A (p.Ala275Thr) n.2419G>A c.898G>A (p.Ala300Thr) c.850G>A (p.Ala284Thr) c.775G>A (p.Ala259Thr) c.718G>A (p.Ala240Thr) | dbSNP |
| 3 | g.30672006G>C | CA351807949 | TGFBR2 | c.823G>C (p.Ala275Pro) n.2419G>C c.898G>C (p.Ala300Pro) c.850G>C (p.Ala284Pro) c.775G>C (p.Ala259Pro) c.718G>C (p.Ala240Pro) | dbSNP |
| 3 | g.30672006G= | CA1354873087 | TGFBR2 | c.823G= (p.Ala275=) n.2419G= c.898G= (p.Ala300=) c.850G= (p.Ala284=) c.775G= (p.Ala259=) c.718G= (p.Ala240=) | |
| 3 | g.30672006G>T | CA049958 | TGFBR2 | c.823G>T (p.Ala275Ser) n.2419G>T c.898G>T (p.Ala300Ser) c.850G>T (p.Ala284Ser) c.775G>T (p.Ala259Ser) c.718G>T (p.Ala240Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.30672007C>A | CA351807950 | TGFBR2 | c.824C>A (p.Ala275Glu) n.2420C>A c.899C>A (p.Ala300Glu) c.851C>A (p.Ala284Glu) c.776C>A (p.Ala259Glu) c.719C>A (p.Ala240Glu) | dbSNP |
| 3 | g.30672007C>G | CA351807951 | TGFBR2 | c.824C>G (p.Ala275Gly) n.2420C>G c.899C>G (p.Ala300Gly) c.851C>G (p.Ala284Gly) c.776C>G (p.Ala259Gly) c.719C>G (p.Ala240Gly) | dbSNP |
| 3 | g.30672007C>T | CA351807952 | TGFBR2 | c.824C>T (p.Ala275Val) n.2420C>T c.899C>T (p.Ala300Val) c.851C>T (p.Ala284Val) c.776C>T (p.Ala259Val) c.719C>T (p.Ala240Val) | dbSNP gnomAD v4 |
| 3 | g.30672008A>C | CA433058784 | TGFBR2 | c.825A>C (p.Ala275=) n.2421A>C c.900A>C (p.Ala300=) c.852A>C (p.Ala284=) c.777A>C (p.Ala259=) c.720A>C (p.Ala240=) | |
| 3 | g.30672008A>G | CA433058785 | TGFBR2 | c.825A>G (p.Ala275=) n.2421A>G c.900A>G (p.Ala300=) c.852A>G (p.Ala284=) c.777A>G (p.Ala259=) c.720A>G (p.Ala240=) | ClinVar dbSNP |
| 3 | g.30672008A>T | CA433058786 | TGFBR2 | c.825A>T (p.Ala275=) n.2421A>T c.900A>T (p.Ala300=) c.852A>T (p.Ala284=) c.777A>T (p.Ala259=) c.720A>T (p.Ala240=) | |
| 3 | g.30672009G>A | CA351807955 | TGFBR2 | c.826G>A (p.Val276Ile) n.2422G>A c.901G>A (p.Val301Ile) c.853G>A (p.Val285Ile) c.778G>A (p.Val260Ile) c.721G>A (p.Val241Ile) | dbSNP |
| 3 | g.30672009G>C | CA351807954 | TGFBR2 | c.826G>C (p.Val276Leu) n.2422G>C c.901G>C (p.Val301Leu) c.853G>C (p.Val285Leu) c.778G>C (p.Val260Leu) c.721G>C (p.Val241Leu) | dbSNP |
| 3 | g.30672009G= | CA1354873088 | TGFBR2 | c.826G= (p.Val276=) n.2422G= c.901G= (p.Val301=) c.853G= (p.Val285=) c.778G= (p.Val260=) c.721G= (p.Val241=) | |
| 3 | g.30672009G>T | CA351807953 | TGFBR2 | c.826G>T (p.Val276Phe) n.2422G>T c.901G>T (p.Val301Phe) c.853G>T (p.Val285Phe) c.778G>T (p.Val260Phe) c.721G>T (p.Val241Phe) | ClinVar dbSNP |
| 3 | g.30672010T>A | CA351807956 | TGFBR2 | c.827T>A (p.Val276Asp) n.2423T>A c.902T>A (p.Val301Asp) c.854T>A (p.Val285Asp) c.779T>A (p.Val260Asp) c.722T>A (p.Val241Asp) | dbSNP |
| 3 | g.30672010T>C | CA351807957 | TGFBR2 | c.827T>C (p.Val276Ala) n.2423T>C c.902T>C (p.Val301Ala) c.854T>C (p.Val285Ala) c.779T>C (p.Val260Ala) c.722T>C (p.Val241Ala) | |
| 3 | g.30672010T>G | CA71528136 | TGFBR2 | c.827T>G (p.Val276Gly) n.2423T>G c.902T>G (p.Val301Gly) c.854T>G (p.Val285Gly) c.779T>G (p.Val260Gly) c.722T>G (p.Val241Gly) | dbSNP gnomAD v2 |
| 3 | g.30672010T= | CA1354873089 | TGFBR2 | c.827T= (p.Val276=) n.2423T= c.902T= (p.Val301=) c.854T= (p.Val285=) c.779T= (p.Val260=) c.722T= (p.Val241=) | |
| 3 | g.30672011C>A | CA433058787 | TGFBR2 | c.828C>A (p.Val276=) n.2424C>A c.903C>A (p.Val301=) c.855C>A (p.Val285=) c.780C>A (p.Val260=) c.723C>A (p.Val241=) | |
| 3 | g.30672011C>G | CA433058789 | TGFBR2 | c.828C>G (p.Val276=) n.2424C>G c.903C>G (p.Val301=) c.855C>G (p.Val285=) c.780C>G (p.Val260=) c.723C>G (p.Val241=) | dbSNP |
| 3 | g.30672011C>T | CA433058788 | TGFBR2 | c.828C>T (p.Val276=) n.2424C>T c.903C>T (p.Val301=) c.855C>T (p.Val285=) c.780C>T (p.Val260=) c.723C>T (p.Val241=) | dbSNP |
| 3 | g.30672012A>C | CA351807958 | TGFBR2 | c.829A>C (p.Lys277Gln) n.2425A>C c.904A>C (p.Lys302Gln) c.856A>C (p.Lys286Gln) c.781A>C (p.Lys261Gln) c.724A>C (p.Lys242Gln) | |
| 3 | g.30672012A>G | CA351807959 | TGFBR2 | c.829A>G (p.Lys277Glu) n.2425A>G c.904A>G (p.Lys302Glu) c.856A>G (p.Lys286Glu) c.781A>G (p.Lys261Glu) c.724A>G (p.Lys242Glu) | COSMIC |
| 3 | g.30672012A>T | CA351807960 | TGFBR2 | c.829A>T (p.Lys277Ter) n.2425A>T c.904A>T (p.Lys302Ter) c.856A>T (p.Lys286Ter) c.781A>T (p.Lys261Ter) c.724A>T (p.Lys242Ter) | dbSNP |
| 3 | g.30672013A>C | CA351807963 | TGFBR2 | c.830A>C (p.Lys277Thr) n.2426A>C c.905A>C (p.Lys302Thr) c.857A>C (p.Lys286Thr) c.782A>C (p.Lys261Thr) c.725A>C (p.Lys242Thr) | |
| 3 | g.30672013A>G | CA351807961 | TGFBR2 | c.830A>G (p.Lys277Arg) n.2426A>G c.905A>G (p.Lys302Arg) c.857A>G (p.Lys286Arg) c.782A>G (p.Lys261Arg) c.725A>G (p.Lys242Arg) | COSMIC COSMIC |
| 3 | g.30672013A>T | CA351807962 | TGFBR2 | c.830A>T (p.Lys277Met) n.2426A>T c.905A>T (p.Lys302Met) c.857A>T (p.Lys286Met) c.782A>T (p.Lys261Met) c.725A>T (p.Lys242Met) | dbSNP |
| 3 | g.30672014G>A | CA433058790 | TGFBR2 | c.831G>A (p.Lys277=) n.2427G>A c.906G>A (p.Lys302=) c.858G>A (p.Lys286=) c.783G>A (p.Lys261=) c.726G>A (p.Lys242=) | dbSNP |
| 3 | g.30672014G>C | CA351807964 | TGFBR2 | c.831G>C (p.Lys277Asn) n.2427G>C c.906G>C (p.Lys302Asn) c.858G>C (p.Lys286Asn) c.783G>C (p.Lys261Asn) c.726G>C (p.Lys242Asn) | ClinVar dbSNP |
| 3 | g.30672014G= | CA1354873090 | TGFBR2 | c.831G= (p.Lys277=) n.2427G= c.906G= (p.Lys302=) c.858G= (p.Lys286=) c.783G= (p.Lys261=) c.726G= (p.Lys242=) | |
| 3 | g.30672014G>T | CA10587565 | TGFBR2 | c.831G>T (p.Lys277Asn) n.2427G>T c.906G>T (p.Lys302Asn) c.858G>T (p.Lys286Asn) c.783G>T (p.Lys261Asn) c.726G>T (p.Lys242Asn) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672015A= | CA1354873091 | TGFBR2 | c.832A= (p.Ile278=) n.2428A= c.907A= (p.Ile303=) c.859A= (p.Ile287=) c.784A= (p.Ile262=) c.727A= (p.Ile243=) | |
| 3 | g.30672015A>C | CA351807965 | TGFBR2 | c.832A>C (p.Ile278Leu) n.2428A>C c.907A>C (p.Ile303Leu) c.859A>C (p.Ile287Leu) c.784A>C (p.Ile262Leu) c.727A>C (p.Ile243Leu) | |
| 3 | g.30672015A>G | CA351807966 | TGFBR2 | c.832A>G (p.Ile278Val) n.2428A>G c.907A>G (p.Ile303Val) c.859A>G (p.Ile287Val) c.784A>G (p.Ile262Val) c.727A>G (p.Ile243Val) | |
| 3 | g.30672015A>T | CA351807967 | TGFBR2 | c.832A>T (p.Ile278Phe) n.2428A>T c.907A>T (p.Ile303Phe) c.859A>T (p.Ile287Phe) c.784A>T (p.Ile262Phe) c.727A>T (p.Ile243Phe) | ClinVar dbSNP |
| 3 | g.30672016T>A | CA351807968 | TGFBR2 | c.833T>A (p.Ile278Asn) n.2429T>A c.908T>A (p.Ile303Asn) c.860T>A (p.Ile287Asn) c.785T>A (p.Ile262Asn) c.728T>A (p.Ile243Asn) | |
| 3 | g.30672016T>C | CA351807970 | TGFBR2 | c.833T>C (p.Ile278Thr) n.2429T>C c.908T>C (p.Ile303Thr) c.860T>C (p.Ile287Thr) c.785T>C (p.Ile262Thr) c.728T>C (p.Ile243Thr) | |
| 3 | g.30672016T>G | CA351807969 | TGFBR2 | c.833T>G (p.Ile278Ser) n.2429T>G c.908T>G (p.Ile303Ser) c.860T>G (p.Ile287Ser) c.785T>G (p.Ile262Ser) c.728T>G (p.Ile243Ser) | |
| 3 | g.30672017C>A | CA433058797 | TGFBR2 | c.834C>A (p.Ile278=) n.2430C>A c.909C>A (p.Ile303=) c.861C>A (p.Ile287=) c.786C>A (p.Ile262=) c.729C>A (p.Ile243=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672017C= | CA1354873092 | TGFBR2 | c.834C= (p.Ile278=) n.2430C= c.909C= (p.Ile303=) c.861C= (p.Ile287=) c.786C= (p.Ile262=) c.729C= (p.Ile243=) | |
| 3 | g.30672017C>G | CA351807971 | TGFBR2 | c.834C>G (p.Ile278Met) n.2430C>G c.909C>G (p.Ile303Met) c.861C>G (p.Ile287Met) c.786C>G (p.Ile262Met) c.729C>G (p.Ile243Met) | dbSNP gnomAD v4 |
| 3 | g.30672017C>T | CA049968 | TGFBR2 | c.834C>T (p.Ile278=) n.2430C>T c.909C>T (p.Ile303=) c.861C>T (p.Ile287=) c.786C>T (p.Ile262=) c.729C>T (p.Ile243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672018T>A | CA351807972 | TGFBR2 | c.835T>A (p.Phe279Ile) n.2431T>A c.910T>A (p.Phe304Ile) c.862T>A (p.Phe288Ile) c.787T>A (p.Phe263Ile) c.730T>A (p.Phe244Ile) | |
| 3 | g.30672018T>C | CA049980 | TGFBR2 | c.835T>C (p.Phe279Leu) n.2431T>C c.910T>C (p.Phe304Leu) c.862T>C (p.Phe288Leu) c.787T>C (p.Phe263Leu) c.730T>C (p.Phe244Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672018T>G | CA351807973 | TGFBR2 | c.835T>G (p.Phe279Val) n.2431T>G c.910T>G (p.Phe304Val) c.862T>G (p.Phe288Val) c.787T>G (p.Phe263Val) c.730T>G (p.Phe244Val) | |
| 3 | g.30672018T= | CA1354873093 | TGFBR2 | c.835T= (p.Phe279=) n.2431T= c.910T= (p.Phe304=) c.862T= (p.Phe288=) c.787T= (p.Phe263=) c.730T= (p.Phe244=) | |
| 3 | g.30672019T>A | CA351807974 | TGFBR2 | c.836T>A (p.Phe279Tyr) n.2432T>A c.911T>A (p.Phe304Tyr) c.863T>A (p.Phe288Tyr) c.788T>A (p.Phe263Tyr) c.731T>A (p.Phe244Tyr) | |
| 3 | g.30672019T>C | CA351807975 | TGFBR2 | c.836T>C (p.Phe279Ser) n.2432T>C c.911T>C (p.Phe304Ser) c.863T>C (p.Phe288Ser) c.788T>C (p.Phe263Ser) c.731T>C (p.Phe244Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672019T>G | CA351807976 | TGFBR2 | c.836T>G (p.Phe279Cys) n.2432T>G c.911T>G (p.Phe304Cys) c.863T>G (p.Phe288Cys) c.788T>G (p.Phe263Cys) c.731T>G (p.Phe244Cys) | |
| 3 | g.30672019T= | CA1354873094 | TGFBR2 | c.836T= (p.Phe279=) n.2432T= c.911T= (p.Phe304=) c.863T= (p.Phe288=) c.788T= (p.Phe263=) c.731T= (p.Phe244=) | |
| 3 | g.30672020T>A | CA351807977 | TGFBR2 | c.837T>A (p.Phe279Leu) n.2433T>A c.912T>A (p.Phe304Leu) c.864T>A (p.Phe288Leu) c.789T>A (p.Phe263Leu) c.732T>A (p.Phe244Leu) | |
| 3 | g.30672020T>C | CA433058803 | TGFBR2 | c.837T>C (p.Phe279=) n.2433T>C c.912T>C (p.Phe304=) c.864T>C (p.Phe288=) c.789T>C (p.Phe263=) c.732T>C (p.Phe244=) | ClinVar dbSNP |
| 3 | g.30672020T>G | CA351807978 | TGFBR2 | c.837T>G (p.Phe279Leu) n.2433T>G c.912T>G (p.Phe304Leu) c.864T>G (p.Phe288Leu) c.789T>G (p.Phe263Leu) c.732T>G (p.Phe244Leu) | |
| 3 | g.30672021C>A | CA351807981 | TGFBR2 | c.838C>A (p.Pro280Thr) n.2434C>A c.913C>A (p.Pro305Thr) c.865C>A (p.Pro289Thr) c.790C>A (p.Pro264Thr) c.733C>A (p.Pro245Thr) | gnomAD v4 |
| 3 | g.30672021C>G | CA351807980 | TGFBR2 | c.838C>G (p.Pro280Ala) n.2434C>G c.913C>G (p.Pro305Ala) c.865C>G (p.Pro289Ala) c.790C>G (p.Pro264Ala) c.733C>G (p.Pro245Ala) | ClinVar dbSNP |
| 3 | g.30672021C>T | CA351807979 | TGFBR2 | c.838C>T (p.Pro280Ser) n.2434C>T c.913C>T (p.Pro305Ser) c.865C>T (p.Pro289Ser) c.790C>T (p.Pro264Ser) c.733C>T (p.Pro245Ser) | dbSNP |
| 3 | g.30672023del | CA2573130182 | TGFBR2 | c.840del (p.Tyr281MetfsTer19) n.2436del c.915del (p.Tyr306MetfsTer19) c.867del (p.Tyr290MetfsTer19) c.792del (p.Tyr265MetfsTer19) c.735del (p.Tyr246MetfsTer19) | |
| 3 | g.30672022C>A | CA351807982 | TGFBR2 | c.839C>A (p.Pro280His) n.2435C>A c.914C>A (p.Pro305His) c.866C>A (p.Pro289His) c.791C>A (p.Pro264His) c.734C>A (p.Pro245His) | |
| 3 | g.30672022C>G | CA351807984 | TGFBR2 | c.839C>G (p.Pro280Arg) n.2435C>G c.914C>G (p.Pro305Arg) c.866C>G (p.Pro289Arg) c.791C>G (p.Pro264Arg) c.734C>G (p.Pro245Arg) | dbSNP |
| 3 | g.30672022C>T | CA351807983 | TGFBR2 | c.839C>T (p.Pro280Leu) n.2435C>T c.914C>T (p.Pro305Leu) c.866C>T (p.Pro289Leu) c.791C>T (p.Pro264Leu) c.734C>T (p.Pro245Leu) | dbSNP |
| 3 | g.30672023C>A | CA433058807 | TGFBR2 | c.840C>A (p.Pro280=) n.2436C>A c.915C>A (p.Pro305=) c.867C>A (p.Pro289=) c.792C>A (p.Pro264=) c.735C>A (p.Pro245=) | |
| 3 | g.30672023C= | CA1354873096 | TGFBR2 | c.840C= (p.Pro280=) n.2436C= c.915C= (p.Pro305=) c.867C= (p.Pro289=) c.792C= (p.Pro264=) c.735C= (p.Pro245=) | |
| 3 | g.30672023C>G | CA433058808 | TGFBR2 | c.840C>G (p.Pro280=) n.2436C>G c.915C>G (p.Pro305=) c.867C>G (p.Pro289=) c.792C>G (p.Pro264=) c.735C>G (p.Pro245=) | ClinVar dbSNP |
| 3 | g.30672023C>T | CA433058809 | TGFBR2 | c.840C>T (p.Pro280=) n.2436C>T c.915C>T (p.Pro305=) c.867C>T (p.Pro289=) c.792C>T (p.Pro264=) c.735C>T (p.Pro245=) | dbSNP |
| 3 | g.30672023_30672032delinsCTATGAGGAG | CA1354873095 | TGFBR2 | c.840_849delinsCTATGAGGAG (p.Pro280=) n.2436_2445delinsCTATGAGGAG c.915_924delinsCTATGAGGAG (p.Pro305=) c.867_876delinsCTATGAGGAG (p.Pro289=) c.792_801delinsCTATGAGGAG (p.Pro264=) c.735_744delinsCTATGAGGAG (p.Pro245=) | |
| 3 | g.30672024T>A | CA351807985 | TGFBR2 | c.841T>A (p.Tyr281Asn) n.2437T>A c.916T>A (p.Tyr306Asn) c.868T>A (p.Tyr290Asn) c.793T>A (p.Tyr265Asn) c.736T>A (p.Tyr246Asn) | |
| 3 | g.30672024T>C | CA351807987 | TGFBR2 | c.841T>C (p.Tyr281His) n.2437T>C c.916T>C (p.Tyr306His) c.868T>C (p.Tyr290His) c.793T>C (p.Tyr265His) c.736T>C (p.Tyr246His) | |
| 3 | g.30672024T>G | CA351807986 | TGFBR2 | c.841T>G (p.Tyr281Asp) n.2437T>G c.916T>G (p.Tyr306Asp) c.868T>G (p.Tyr290Asp) c.793T>G (p.Tyr265Asp) c.736T>G (p.Tyr246Asp) | |
| 3 | g.30672028_30672036del | CA645294023 | TGFBR2 | c.845_853del (p.Glu282_Tyr284del) n.2441_2449del c.920_928del (p.Glu307_Tyr309del) c.872_880del (p.Glu291_Tyr293del) c.797_805del (p.Glu266_Tyr268del) c.740_748del (p.Glu247_Tyr249del) | ClinVar dbSNP |
| 3 | g.30672025A= | CA1354873097 | TGFBR2 | c.842A= (p.Tyr281=) n.2438A= c.917A= (p.Tyr306=) c.869A= (p.Tyr290=) c.794A= (p.Tyr265=) c.737A= (p.Tyr246=) | |
| 3 | g.30672025A>C | CA351807988 | TGFBR2 | c.842A>C (p.Tyr281Ser) n.2438A>C c.917A>C (p.Tyr306Ser) c.869A>C (p.Tyr290Ser) c.794A>C (p.Tyr265Ser) c.737A>C (p.Tyr246Ser) | |
| 3 | g.30672025A>G | CA351807989 | TGFBR2 | c.842A>G (p.Tyr281Cys) n.2438A>G c.917A>G (p.Tyr306Cys) c.869A>G (p.Tyr290Cys) c.794A>G (p.Tyr265Cys) c.737A>G (p.Tyr246Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672025A>T | CA351807990 | TGFBR2 | c.842A>T (p.Tyr281Phe) n.2438A>T c.917A>T (p.Tyr306Phe) c.869A>T (p.Tyr290Phe) c.794A>T (p.Tyr265Phe) c.737A>T (p.Tyr246Phe) | ClinVar dbSNP |
| 3 | g.30672026T>A | CA351807991 | TGFBR2 | c.843T>A (p.Tyr281Ter) n.2439T>A c.918T>A (p.Tyr306Ter) c.870T>A (p.Tyr290Ter) c.795T>A (p.Tyr265Ter) c.738T>A (p.Tyr246Ter) | |
| 3 | g.30672026T>C | CA433058811 | TGFBR2 | c.843T>C (p.Tyr281=) n.2439T>C c.918T>C (p.Tyr306=) c.870T>C (p.Tyr290=) c.795T>C (p.Tyr265=) c.738T>C (p.Tyr246=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672026T>G | CA351807992 | TGFBR2 | c.843T>G (p.Tyr281Ter) n.2439T>G c.918T>G (p.Tyr306Ter) c.870T>G (p.Tyr290Ter) c.795T>G (p.Tyr265Ter) c.738T>G (p.Tyr246Ter) | |
| 3 | g.30672026T= | CA1354873098 | TGFBR2 | c.843T= (p.Tyr281=) n.2439T= c.918T= (p.Tyr306=) c.870T= (p.Tyr290=) c.795T= (p.Tyr265=) c.738T= (p.Tyr246=) | |
| 3 | g.30672027G>A | CA351807993 | TGFBR2 | c.844G>A (p.Glu282Lys) n.2440G>A c.919G>A (p.Glu307Lys) c.871G>A (p.Glu291Lys) c.796G>A (p.Glu266Lys) c.739G>A (p.Glu247Lys) | dbSNP |
| 3 | g.30672027G>C | CA351807994 | TGFBR2 | c.844G>C (p.Glu282Gln) n.2440G>C c.919G>C (p.Glu307Gln) c.871G>C (p.Glu291Gln) c.796G>C (p.Glu266Gln) c.739G>C (p.Glu247Gln) | |
| 3 | g.30672027G>T | CA351807995 | TGFBR2 | c.844G>T (p.Glu282Ter) n.2440G>T c.919G>T (p.Glu307Ter) c.871G>T (p.Glu291Ter) c.796G>T (p.Glu266Ter) c.739G>T (p.Glu247Ter) | |
| 3 | g.30672028_30672029del | CA2702364046 | TGFBR2 | c.845_846del (p.Glu282GlyfsTer20) n.2441_2442del c.920_921del (p.Glu307GlyfsTer20) c.872_873del (p.Glu291GlyfsTer20) c.797_798del (p.Glu266GlyfsTer20) c.740_741del (p.Glu247GlyfsTer20) | dbSNP |
| 3 | g.30672028A>C | CA351807996 | TGFBR2 | c.845A>C (p.Glu282Ala) n.2441A>C c.920A>C (p.Glu307Ala) c.872A>C (p.Glu291Ala) c.797A>C (p.Glu266Ala) c.740A>C (p.Glu247Ala) | |
| 3 | g.30672028A>G | CA351807997 | TGFBR2 | c.845A>G (p.Glu282Gly) n.2441A>G c.920A>G (p.Glu307Gly) c.872A>G (p.Glu291Gly) c.797A>G (p.Glu266Gly) c.740A>G (p.Glu247Gly) | |
| 3 | g.30672028A>T | CA351807998 | TGFBR2 | c.845A>T (p.Glu282Val) n.2441A>T c.920A>T (p.Glu307Val) c.872A>T (p.Glu291Val) c.797A>T (p.Glu266Val) c.740A>T (p.Glu247Val) | dbSNP |
| 3 | g.30672029G>A | CA433058815 | TGFBR2 | c.846G>A (p.Glu282=) n.2442G>A c.921G>A (p.Glu307=) c.873G>A (p.Glu291=) c.798G>A (p.Glu266=) c.741G>A (p.Glu247=) | dbSNP gnomAD v4 |
| 3 | g.30672029G>C | CA351808000 | TGFBR2 | c.846G>C (p.Glu282Asp) n.2442G>C c.921G>C (p.Glu307Asp) c.873G>C (p.Glu291Asp) c.798G>C (p.Glu266Asp) c.741G>C (p.Glu247Asp) | dbSNP |
| 3 | g.30672029G>T | CA351807999 | TGFBR2 | c.846G>T (p.Glu282Asp) n.2442G>T c.921G>T (p.Glu307Asp) c.873G>T (p.Glu291Asp) c.798G>T (p.Glu266Asp) c.741G>T (p.Glu247Asp) | dbSNP |
| 3 | g.30672030G>A | CA351808001 | TGFBR2 | c.847G>A (p.Glu283Lys) n.2443G>A c.922G>A (p.Glu308Lys) c.874G>A (p.Glu292Lys) c.799G>A (p.Glu267Lys) c.742G>A (p.Glu248Lys) | |
| 3 | g.30672030G>C | CA351808002 | TGFBR2 | c.847G>C (p.Glu283Gln) n.2443G>C c.922G>C (p.Glu308Gln) c.874G>C (p.Glu292Gln) c.799G>C (p.Glu267Gln) c.742G>C (p.Glu248Gln) | dbSNP |
| 3 | g.30672030G>T | CA351808003 | TGFBR2 | c.847G>T (p.Glu283Ter) n.2443G>T c.922G>T (p.Glu308Ter) c.874G>T (p.Glu292Ter) c.799G>T (p.Glu267Ter) c.742G>T (p.Glu248Ter) | |
| 3 | g.30672031A>C | CA351808004 | TGFBR2 | c.848A>C (p.Glu283Ala) n.2444A>C c.923A>C (p.Glu308Ala) c.875A>C (p.Glu292Ala) c.800A>C (p.Glu267Ala) c.743A>C (p.Glu248Ala) | |
| 3 | g.30672031A>G | CA351808005 | TGFBR2 | c.848A>G (p.Glu283Gly) n.2444A>G c.923A>G (p.Glu308Gly) c.875A>G (p.Glu292Gly) c.800A>G (p.Glu267Gly) c.743A>G (p.Glu248Gly) | COSMIC COSMIC |
| 3 | g.30672031A>T | CA351808006 | TGFBR2 | c.848A>T (p.Glu283Val) n.2444A>T c.923A>T (p.Glu308Val) c.875A>T (p.Glu292Val) c.800A>T (p.Glu267Val) c.743A>T (p.Glu248Val) | dbSNP |
| 3 | g.30672032G>A | CA433058819 | TGFBR2 | c.849G>A (p.Glu283=) n.2445G>A c.924G>A (p.Glu308=) c.876G>A (p.Glu292=) c.801G>A (p.Glu267=) c.744G>A (p.Glu248=) | ClinVar dbSNP |
| 3 | g.30672032G>C | CA351808007 | TGFBR2 | c.849G>C (p.Glu283Asp) n.2445G>C c.924G>C (p.Glu308Asp) c.876G>C (p.Glu292Asp) c.801G>C (p.Glu267Asp) c.744G>C (p.Glu248Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672032G= | CA1354873099 | TGFBR2 | c.849G= (p.Glu283=) n.2445G= c.924G= (p.Glu308=) c.876G= (p.Glu292=) c.801G= (p.Glu267=) c.744G= (p.Glu248=) | |
| 3 | g.30672032G>T | CA351808008 | TGFBR2 | c.849G>T (p.Glu283Asp) n.2445G>T c.924G>T (p.Glu308Asp) c.876G>T (p.Glu292Asp) c.801G>T (p.Glu267Asp) c.744G>T (p.Glu248Asp) | ClinVar |
| 3 | g.30672033T>A | CA351808009 | TGFBR2 | c.850T>A (p.Tyr284Asn) n.2446T>A c.925T>A (p.Tyr309Asn) c.877T>A (p.Tyr293Asn) c.802T>A (p.Tyr268Asn) c.745T>A (p.Tyr249Asn) | dbSNP |
| 3 | g.30672033T>C | CA351808010 | TGFBR2 | c.850T>C (p.Tyr284His) n.2446T>C c.925T>C (p.Tyr309His) c.877T>C (p.Tyr293His) c.802T>C (p.Tyr268His) c.745T>C (p.Tyr249His) | dbSNP |
| 3 | g.30672033T>G | CA351808011 | TGFBR2 | c.850T>G (p.Tyr284Asp) n.2446T>G c.925T>G (p.Tyr309Asp) c.877T>G (p.Tyr293Asp) c.802T>G (p.Tyr268Asp) c.745T>G (p.Tyr249Asp) | dbSNP |
| 3 | g.30672034A= | CA1354873100 | TGFBR2 | c.851A= (p.Tyr284=) n.2447A= c.926A= (p.Tyr309=) c.878A= (p.Tyr293=) c.803A= (p.Tyr268=) c.746A= (p.Tyr249=) | |
| 3 | g.30672034A>C | CA351808013 | TGFBR2 | c.851A>C (p.Tyr284Ser) n.2447A>C c.926A>C (p.Tyr309Ser) c.878A>C (p.Tyr293Ser) c.803A>C (p.Tyr268Ser) c.746A>C (p.Tyr249Ser) | gnomAD v4 |
| 3 | g.30672034A>G | CA049994 | TGFBR2 | c.851A>G (p.Tyr284Cys) n.2447A>G c.926A>G (p.Tyr309Cys) c.878A>G (p.Tyr293Cys) c.803A>G (p.Tyr268Cys) c.746A>G (p.Tyr249Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672034A>T | CA351808012 | TGFBR2 | c.851A>T (p.Tyr284Phe) n.2447A>T c.926A>T (p.Tyr309Phe) c.878A>T (p.Tyr293Phe) c.803A>T (p.Tyr268Phe) c.746A>T (p.Tyr249Phe) | dbSNP |
| 3 | g.30672035T>A | CA351808014 | TGFBR2 | c.852T>A (p.Tyr284Ter) n.2448T>A c.927T>A (p.Tyr309Ter) c.879T>A (p.Tyr293Ter) c.804T>A (p.Tyr268Ter) c.747T>A (p.Tyr249Ter) | COSMIC COSMIC |
| 3 | g.30672035T>C | CA433058822 | TGFBR2 | c.852T>C (p.Tyr284=) n.2448T>C c.927T>C (p.Tyr309=) c.879T>C (p.Tyr293=) c.804T>C (p.Tyr268=) c.747T>C (p.Tyr249=) | dbSNP |
| 3 | g.30672035T>G | CA351808015 | TGFBR2 | c.852T>G (p.Tyr284Ter) n.2448T>G c.927T>G (p.Tyr309Ter) c.879T>G (p.Tyr293Ter) c.804T>G (p.Tyr268Ter) c.747T>G (p.Tyr249Ter) | dbSNP |
| 3 | g.30672035T= | CA1354873101 | TGFBR2 | c.852T= (p.Tyr284=) n.2448T= c.927T= (p.Tyr309=) c.879T= (p.Tyr293=) c.804T= (p.Tyr268=) c.747T= (p.Tyr249=) | |
| 3 | g.30672036G>A | CA050010 | TGFBR2 | c.853G>A (p.Ala285Thr) n.2449G>A c.928G>A (p.Ala310Thr) c.880G>A (p.Ala294Thr) c.805G>A (p.Ala269Thr) c.748G>A (p.Ala250Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672036G>C | CA351808016 | TGFBR2 | c.853G>C (p.Ala285Pro) n.2449G>C c.928G>C (p.Ala310Pro) c.880G>C (p.Ala294Pro) c.805G>C (p.Ala269Pro) c.748G>C (p.Ala250Pro) | dbSNP |
| 3 | g.30672036G= | CA1354873102 | TGFBR2 | c.853G= (p.Ala285=) n.2449G= c.928G= (p.Ala310=) c.880G= (p.Ala294=) c.805G= (p.Ala269=) c.748G= (p.Ala250=) | |
| 3 | g.30672036G>T | CA351808017 | TGFBR2 | c.853G>T (p.Ala285Ser) n.2449G>T c.928G>T (p.Ala310Ser) c.880G>T (p.Ala294Ser) c.805G>T (p.Ala269Ser) c.748G>T (p.Ala250Ser) | dbSNP |
| 3 | g.30672037C>A | CA351808020 | TGFBR2 | c.854C>A (p.Ala285Asp) n.2450C>A c.929C>A (p.Ala310Asp) c.881C>A (p.Ala294Asp) c.806C>A (p.Ala269Asp) c.749C>A (p.Ala250Asp) | |
| 3 | g.30672037C>G | CA351808019 | TGFBR2 | c.854C>G (p.Ala285Gly) n.2450C>G c.929C>G (p.Ala310Gly) c.881C>G (p.Ala294Gly) c.806C>G (p.Ala269Gly) c.749C>G (p.Ala250Gly) | |
| 3 | g.30672037C>T | CA351808018 | TGFBR2 | c.854C>T (p.Ala285Val) n.2450C>T c.929C>T (p.Ala310Val) c.881C>T (p.Ala294Val) c.806C>T (p.Ala269Val) c.749C>T (p.Ala250Val) | |
| 3 | g.30672038C>A | CA433058827 | TGFBR2 | c.855C>A (p.Ala285=) n.2451C>A c.930C>A (p.Ala310=) c.882C>A (p.Ala294=) c.807C>A (p.Ala269=) c.750C>A (p.Ala250=) | |
| 3 | g.30672038C>G | CA433058828 | TGFBR2 | c.855C>G (p.Ala285=) n.2451C>G c.930C>G (p.Ala310=) c.882C>G (p.Ala294=) c.807C>G (p.Ala269=) c.750C>G (p.Ala250=) | dbSNP |
| 3 | g.30672038C>T | CA433058830 | TGFBR2 | c.855C>T (p.Ala285=) n.2451C>T c.930C>T (p.Ala310=) c.882C>T (p.Ala294=) c.807C>T (p.Ala269=) c.750C>T (p.Ala250=) | ClinVar dbSNP |
| 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 |