Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.99146531T>A | CA374232841 | TGFBR1 | c.970T>A (p.Phe324Ile) c.982T>A (p.Phe328Ile) c.*99T>A (n.*99T>A) c.739T>A (p.Phe247Ile) c.*973T>A (n.*973T>A) c.1177T>A (p.Phe393Ile) c.946T>A (p.Phe316Ile) c.1143-1123T>A (n.1143-1123T>A) c.1189T>A (p.Phe397Ile) | |
9 | g.99146531T>C | CA374232839 | TGFBR1 | c.970T>C (p.Phe324Leu) c.982T>C (p.Phe328Leu) c.*99T>C (n.*99T>C) c.739T>C (p.Phe247Leu) c.*973T>C (n.*973T>C) c.1177T>C (p.Phe393Leu) c.946T>C (p.Phe316Leu) c.1143-1123T>C (n.1143-1123T>C) c.1189T>C (p.Phe397Leu) | |
9 | g.99146531T>G | CA374232838 | TGFBR1 | c.970T>G (p.Phe324Val) c.982T>G (p.Phe328Val) c.*99T>G (n.*99T>G) c.739T>G (p.Phe247Val) c.*973T>G (n.*973T>G) c.1177T>G (p.Phe393Val) c.946T>G (p.Phe316Val) c.1143-1123T>G (n.1143-1123T>G) c.1189T>G (p.Phe397Val) | |
9 | g.99146532T>A | CA374232850 | TGFBR1 | c.971T>A (p.Phe324Tyr) c.983T>A (p.Phe328Tyr) c.*100T>A (n.*100T>A) c.740T>A (p.Phe247Tyr) c.*974T>A (n.*974T>A) c.1178T>A (p.Phe393Tyr) c.947T>A (p.Phe316Tyr) c.1143-1122T>A (n.1143-1122T>A) c.1190T>A (p.Phe397Tyr) | |
9 | g.99146532T>C | CA374232844 | TGFBR1 | c.971T>C (p.Phe324Ser) c.983T>C (p.Phe328Ser) c.*100T>C (n.*100T>C) c.740T>C (p.Phe247Ser) c.*974T>C (n.*974T>C) c.1178T>C (p.Phe393Ser) c.947T>C (p.Phe316Ser) c.1143-1122T>C (n.1143-1122T>C) c.1190T>C (p.Phe397Ser) | |
9 | g.99146532T>G | CA374232846 | TGFBR1 | c.971T>G (p.Phe324Cys) c.983T>G (p.Phe328Cys) c.*100T>G (n.*100T>G) c.740T>G (p.Phe247Cys) c.*974T>G (n.*974T>G) c.1178T>G (p.Phe393Cys) c.947T>G (p.Phe316Cys) c.1143-1122T>G (n.1143-1122T>G) c.1190T>G (p.Phe397Cys) | |
9 | g.99146533T>A | CA374232854 | TGFBR1 | c.972T>A (p.Phe324Leu) c.984T>A (p.Phe328Leu) c.*101T>A (n.*101T>A) c.741T>A (p.Phe247Leu) c.*975T>A (n.*975T>A) c.1179T>A (p.Phe393Leu) c.948T>A (p.Phe316Leu) c.1143-1121T>A (n.1143-1121T>A) c.1191T>A (p.Phe397Leu) | |
9 | g.99146533T>C | CA466435309 | TGFBR1 | c.972T>C (p.Phe324=) c.984T>C (p.Phe328=) c.*101T>C (n.*101T>C) c.741T>C (p.Phe247=) c.*975T>C (n.*975T>C) c.1179T>C (p.Phe393=) c.948T>C (p.Phe316=) c.1143-1121T>C (n.1143-1121T>C) c.1191T>C (p.Phe397=) | |
9 | g.99146533T>G | CA374232857 | TGFBR1 | c.972T>G (p.Phe324Leu) c.984T>G (p.Phe328Leu) c.*101T>G (n.*101T>G) c.741T>G (p.Phe247Leu) c.*975T>G (n.*975T>G) c.1179T>G (p.Phe393Leu) c.948T>G (p.Phe316Leu) c.1143-1121T>G (n.1143-1121T>G) c.1191T>G (p.Phe397Leu) | COSMIC |
9 | g.99146534G>A | CA374232859 | TGFBR1 | c.973G>A (p.Glu325Lys) c.985G>A (p.Glu329Lys) c.*102G>A (n.*102G>A) c.742G>A (p.Glu248Lys) c.*976G>A (n.*976G>A) c.1180G>A (p.Glu394Lys) c.949G>A (p.Glu317Lys) c.1143-1120G>A (n.1143-1120G>A) c.1192G>A (p.Glu398Lys) | ClinVar dbSNP |
9 | g.99146534G>C | CA374232861 | TGFBR1 | c.973G>C (p.Glu325Gln) c.985G>C (p.Glu329Gln) c.*102G>C (n.*102G>C) c.742G>C (p.Glu248Gln) c.*976G>C (n.*976G>C) c.1180G>C (p.Glu394Gln) c.949G>C (p.Glu317Gln) c.1143-1120G>C (n.1143-1120G>C) c.1192G>C (p.Glu398Gln) | |
9 | g.99146534G= | CA1867263833 | TGFBR1 | c.973G= (p.Glu325=) c.985G= (p.Glu329=) c.*102G= (n.*102G=) c.742G= (p.Glu248=) c.*976G= (n.*976G=) c.1180G= (p.Glu394=) c.949G= (p.Glu317=) c.1143-1120G= (n.1143-1120G=) c.1192G= (p.Glu398=) | |
9 | g.99146534G>T | CA374232863 | TGFBR1 | c.973G>T (p.Glu325Ter) c.985G>T (p.Glu329Ter) c.*102G>T (n.*102G>T) c.742G>T (p.Glu248Ter) c.*976G>T (n.*976G>T) c.1180G>T (p.Glu394Ter) c.949G>T (p.Glu317Ter) c.1143-1120G>T (n.1143-1120G>T) c.1192G>T (p.Glu398Ter) | |
9 | g.99146535A>C | CA374232865 | TGFBR1 | c.974A>C (p.Glu325Ala) c.986A>C (p.Glu329Ala) c.*103A>C (n.*103A>C) c.743A>C (p.Glu248Ala) c.*977A>C (n.*977A>C) c.1181A>C (p.Glu394Ala) c.950A>C (p.Glu317Ala) c.1143-1119A>C (n.1143-1119A>C) c.1193A>C (p.Glu398Ala) | |
9 | g.99146535A>G | CA374232867 | TGFBR1 | c.974A>G (p.Glu325Gly) c.986A>G (p.Glu329Gly) c.*103A>G (n.*103A>G) c.743A>G (p.Glu248Gly) c.*977A>G (n.*977A>G) c.1181A>G (p.Glu394Gly) c.950A>G (p.Glu317Gly) c.1143-1119A>G (n.1143-1119A>G) c.1193A>G (p.Glu398Gly) | |
9 | g.99146535A>T | CA374232870 | TGFBR1 | c.974A>T (p.Glu325Val) c.986A>T (p.Glu329Val) c.*103A>T (n.*103A>T) c.743A>T (p.Glu248Val) c.*977A>T (n.*977A>T) c.1181A>T (p.Glu394Val) c.950A>T (p.Glu317Val) c.1143-1119A>T (n.1143-1119A>T) c.1193A>T (p.Glu398Val) | |
9 | g.99146536A= | CA1867263839 | TGFBR1 | c.975A= (p.Glu325=) c.987A= (p.Glu329=) c.*104A= (n.*104A=) c.744A= (p.Glu248=) c.*978A= (n.*978A=) c.1182A= (p.Glu394=) c.951A= (p.Glu317=) c.1143-1118A= (n.1143-1118A=) c.1194A= (p.Glu398=) | |
9 | g.99146536A>C | CA374232874 | TGFBR1 | c.975A>C (p.Glu325Asp) c.987A>C (p.Glu329Asp) c.*104A>C (n.*104A>C) c.744A>C (p.Glu248Asp) c.*978A>C (n.*978A>C) c.1182A>C (p.Glu394Asp) c.951A>C (p.Glu317Asp) c.1143-1118A>C (n.1143-1118A>C) c.1194A>C (p.Glu398Asp) | |
9 | g.99146536A>G | CA466435316 | TGFBR1 | c.975A>G (p.Glu325=) c.987A>G (p.Glu329=) c.*104A>G (n.*104A>G) c.744A>G (p.Glu248=) c.*978A>G (n.*978A>G) c.1182A>G (p.Glu394=) c.951A>G (p.Glu317=) c.1143-1118A>G (n.1143-1118A>G) c.1194A>G (p.Glu398=) | dbSNP gnomAD v4 |
9 | g.99146536A>T | CA374232875 | TGFBR1 | c.975A>T (p.Glu325Asp) c.987A>T (p.Glu329Asp) c.*104A>T (n.*104A>T) c.744A>T (p.Glu248Asp) c.*978A>T (n.*978A>T) c.1182A>T (p.Glu394Asp) c.951A>T (p.Glu317Asp) c.1143-1118A>T (n.1143-1118A>T) c.1194A>T (p.Glu398Asp) | |
9 | g.99146537T>A | CA374232884 | TGFBR1 | c.976T>A (p.Ser326Thr) c.988T>A (p.Ser330Thr) c.*105T>A (n.*105T>A) c.745T>A (p.Ser249Thr) c.*979T>A (n.*979T>A) c.1183T>A (p.Ser395Thr) c.952T>A (p.Ser318Thr) c.1143-1117T>A (n.1143-1117T>A) c.1195T>A (p.Ser399Thr) | dbSNP |
9 | g.99146537T>C | CA374232886 | TGFBR1 | c.976T>C (p.Ser326Pro) c.988T>C (p.Ser330Pro) c.*105T>C (n.*105T>C) c.745T>C (p.Ser249Pro) c.*979T>C (n.*979T>C) c.1183T>C (p.Ser395Pro) c.952T>C (p.Ser318Pro) c.1143-1117T>C (n.1143-1117T>C) c.1195T>C (p.Ser399Pro) | ClinVar |
9 | g.99146537T>G | CA374232881 | TGFBR1 | c.976T>G (p.Ser326Ala) c.988T>G (p.Ser330Ala) c.*105T>G (n.*105T>G) c.745T>G (p.Ser249Ala) c.*979T>G (n.*979T>G) c.1183T>G (p.Ser395Ala) c.952T>G (p.Ser318Ala) c.1143-1117T>G (n.1143-1117T>G) c.1195T>G (p.Ser399Ala) | |
9 | g.99146537T= | CA1867263844 | TGFBR1 | c.976T= (p.Ser326=) c.988T= (p.Ser330=) c.*105T= (n.*105T=) c.745T= (p.Ser249=) c.*979T= (n.*979T=) c.1183T= (p.Ser395=) c.952T= (p.Ser318=) c.1143-1117T= (n.1143-1117T=) c.1195T= (p.Ser399=) | |
9 | g.99146538C>A | CA374232890 | TGFBR1 | c.977C>A (p.Ser326Tyr) c.989C>A (p.Ser330Tyr) c.*106C>A (n.*106C>A) c.746C>A (p.Ser249Tyr) c.*980C>A (n.*980C>A) c.1184C>A (p.Ser395Tyr) c.953C>A (p.Ser318Tyr) c.1143-1116C>A (n.1143-1116C>A) c.1196C>A (p.Ser399Tyr) | |
9 | g.99146538C>G | CA374232893 | TGFBR1 | c.977C>G (p.Ser326Cys) c.989C>G (p.Ser330Cys) c.*106C>G (n.*106C>G) c.746C>G (p.Ser249Cys) c.*980C>G (n.*980C>G) c.1184C>G (p.Ser395Cys) c.953C>G (p.Ser318Cys) c.1143-1116C>G (n.1143-1116C>G) c.1196C>G (p.Ser399Cys) | |
9 | g.99146538C>T | CA374232897 | TGFBR1 | c.977C>T (p.Ser326Phe) c.989C>T (p.Ser330Phe) c.*106C>T (n.*106C>T) c.746C>T (p.Ser249Phe) c.*980C>T (n.*980C>T) c.1184C>T (p.Ser395Phe) c.953C>T (p.Ser318Phe) c.1143-1116C>T (n.1143-1116C>T) c.1196C>T (p.Ser399Phe) | |
9 | g.99146539C>A | CA466435324 | TGFBR1 | c.978C>A (p.Ser326=) c.990C>A (p.Ser330=) c.*107C>A (n.*107C>A) c.747C>A (p.Ser249=) c.*981C>A (n.*981C>A) c.1185C>A (p.Ser395=) c.954C>A (p.Ser318=) c.1143-1115C>A (n.1143-1115C>A) c.1197C>A (p.Ser399=) | dbSNP |
9 | g.99146539C>G | CA466435327 | TGFBR1 | c.978C>G (p.Ser326=) c.990C>G (p.Ser330=) c.*107C>G (n.*107C>G) c.747C>G (p.Ser249=) c.*981C>G (n.*981C>G) c.1185C>G (p.Ser395=) c.954C>G (p.Ser318=) c.1143-1115C>G (n.1143-1115C>G) c.1197C>G (p.Ser399=) | |
9 | g.99146539C>T | CA466435328 | TGFBR1 | c.978C>T (p.Ser326=) c.990C>T (p.Ser330=) c.*107C>T (n.*107C>T) c.747C>T (p.Ser249=) c.*981C>T (n.*981C>T) c.1185C>T (p.Ser395=) c.954C>T (p.Ser318=) c.1143-1115C>T (n.1143-1115C>T) c.1197C>T (p.Ser399=) | |
9 | g.99146540T>A | CA374232902 | TGFBR1 | c.979T>A (p.Phe327Ile) c.991T>A (p.Phe331Ile) c.*108T>A (n.*108T>A) c.748T>A (p.Phe250Ile) c.*982T>A (n.*982T>A) c.1186T>A (p.Phe396Ile) c.955T>A (p.Phe319Ile) c.1143-1114T>A (n.1143-1114T>A) c.1198T>A (p.Phe400Ile) | |
9 | g.99146540T>C | CA374232903 | TGFBR1 | c.979T>C (p.Phe327Leu) c.991T>C (p.Phe331Leu) c.*108T>C (n.*108T>C) c.748T>C (p.Phe250Leu) c.*982T>C (n.*982T>C) c.1186T>C (p.Phe396Leu) c.955T>C (p.Phe319Leu) c.1143-1114T>C (n.1143-1114T>C) c.1198T>C (p.Phe400Leu) | |
9 | g.99146540T>G | CA044241 | TGFBR1 | c.979T>G (p.Phe327Val) c.991T>G (p.Phe331Val) c.*108T>G (n.*108T>G) c.748T>G (p.Phe250Val) c.*982T>G (n.*982T>G) c.1186T>G (p.Phe396Val) c.955T>G (p.Phe319Val) c.1143-1114T>G (n.1143-1114T>G) c.1198T>G (p.Phe400Val) | dbSNP ExAC gnomAD v2 |
9 | g.99146540T= | CA1867263846 | TGFBR1 | c.979T= (p.Phe327=) c.991T= (p.Phe331=) c.*108T= (n.*108T=) c.748T= (p.Phe250=) c.*982T= (n.*982T=) c.1186T= (p.Phe396=) c.955T= (p.Phe319=) c.1143-1114T= (n.1143-1114T=) c.1198T= (p.Phe400=) | |
9 | g.99146541T>A | CA374232907 | TGFBR1 | c.980T>A (p.Phe327Tyr) c.992T>A (p.Phe331Tyr) c.*109T>A (n.*109T>A) c.749T>A (p.Phe250Tyr) c.*983T>A (n.*983T>A) c.1187T>A (p.Phe396Tyr) c.956T>A (p.Phe319Tyr) c.1143-1113T>A (n.1143-1113T>A) c.1199T>A (p.Phe400Tyr) | |
9 | g.99146541T>C | CA374232911 | TGFBR1 | c.980T>C (p.Phe327Ser) c.992T>C (p.Phe331Ser) c.*109T>C (n.*109T>C) c.749T>C (p.Phe250Ser) c.*983T>C (n.*983T>C) c.1187T>C (p.Phe396Ser) c.956T>C (p.Phe319Ser) c.1143-1113T>C (n.1143-1113T>C) c.1199T>C (p.Phe400Ser) | |
9 | g.99146541T>G | CA374232909 | TGFBR1 | c.980T>G (p.Phe327Cys) c.992T>G (p.Phe331Cys) c.*109T>G (n.*109T>G) c.749T>G (p.Phe250Cys) c.*983T>G (n.*983T>G) c.1187T>G (p.Phe396Cys) c.956T>G (p.Phe319Cys) c.1143-1113T>G (n.1143-1113T>G) c.1199T>G (p.Phe400Cys) | |
9 | g.99146542C>A | CA374232914 | TGFBR1 | c.981C>A (p.Phe327Leu) c.993C>A (p.Phe331Leu) c.*110C>A (n.*110C>A) c.750C>A (p.Phe250Leu) c.*984C>A (n.*984C>A) c.1188C>A (p.Phe396Leu) c.957C>A (p.Phe319Leu) c.1143-1112C>A (n.1143-1112C>A) c.1200C>A (p.Phe400Leu) | gnomAD v4 |
9 | g.99146542C>G | CA374232917 | TGFBR1 | c.981C>G (p.Phe327Leu) c.993C>G (p.Phe331Leu) c.*110C>G (n.*110C>G) c.750C>G (p.Phe250Leu) c.*984C>G (n.*984C>G) c.1188C>G (p.Phe396Leu) c.957C>G (p.Phe319Leu) c.1143-1112C>G (n.1143-1112C>G) c.1200C>G (p.Phe400Leu) | COSMIC |
9 | g.99146542C>T | CA466435332 | TGFBR1 | c.981C>T (p.Phe327=) c.993C>T (p.Phe331=) c.*110C>T (n.*110C>T) c.750C>T (p.Phe250=) c.*984C>T (n.*984C>T) c.1188C>T (p.Phe396=) c.957C>T (p.Phe319=) c.1143-1112C>T (n.1143-1112C>T) c.1200C>T (p.Phe400=) | |
9 | g.99146543A>C | CA374232920 | TGFBR1 | c.982A>C (p.Lys328Gln) c.994A>C (p.Lys332Gln) c.*111A>C (n.*111A>C) c.751A>C (p.Lys251Gln) c.*985A>C (n.*985A>C) c.1189A>C (p.Lys397Gln) c.958A>C (p.Lys320Gln) c.1143-1111A>C (n.1143-1111A>C) c.1201A>C (p.Lys401Gln) | |
9 | g.99146543A>G | CA374232921 | TGFBR1 | c.982A>G (p.Lys328Glu) c.994A>G (p.Lys332Glu) c.*111A>G (n.*111A>G) c.751A>G (p.Lys251Glu) c.*985A>G (n.*985A>G) c.1189A>G (p.Lys397Glu) c.958A>G (p.Lys320Glu) c.1143-1111A>G (n.1143-1111A>G) c.1201A>G (p.Lys401Glu) | |
9 | g.99146543A>T | CA374232922 | TGFBR1 | c.982A>T (p.Lys328Ter) c.994A>T (p.Lys332Ter) c.*111A>T (n.*111A>T) c.751A>T (p.Lys251Ter) c.*985A>T (n.*985A>T) c.1189A>T (p.Lys397Ter) c.958A>T (p.Lys320Ter) c.1143-1111A>T (n.1143-1111A>T) c.1201A>T (p.Lys401Ter) | ClinVar |
9 | g.99146544A= | CA1867263853 | TGFBR1 | c.983A= (p.Lys328=) c.995A= (p.Lys332=) c.*112A= (n.*112A=) c.752A= (p.Lys251=) c.*986A= (n.*986A=) c.1190A= (p.Lys397=) c.959A= (p.Lys320=) c.1143-1110A= (n.1143-1110A=) c.1202A= (p.Lys401=) | |
9 | g.99146544A>C | CA374232924 | TGFBR1 | c.983A>C (p.Lys328Thr) c.995A>C (p.Lys332Thr) c.*112A>C (n.*112A>C) c.752A>C (p.Lys251Thr) c.*986A>C (n.*986A>C) c.1190A>C (p.Lys397Thr) c.959A>C (p.Lys320Thr) c.1143-1110A>C (n.1143-1110A>C) c.1202A>C (p.Lys401Thr) | |
9 | g.99146544A>G | CA196894159 | TGFBR1 | c.983A>G (p.Lys328Arg) c.995A>G (p.Lys332Arg) c.*112A>G (n.*112A>G) c.752A>G (p.Lys251Arg) c.*986A>G (n.*986A>G) c.1190A>G (p.Lys397Arg) c.959A>G (p.Lys320Arg) c.1143-1110A>G (n.1143-1110A>G) c.1202A>G (p.Lys401Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146544A>T | CA374232923 | TGFBR1 | c.983A>T (p.Lys328Ile) c.995A>T (p.Lys332Ile) c.*112A>T (n.*112A>T) c.752A>T (p.Lys251Ile) c.*986A>T (n.*986A>T) c.1190A>T (p.Lys397Ile) c.959A>T (p.Lys320Ile) c.1143-1110A>T (n.1143-1110A>T) c.1202A>T (p.Lys401Ile) | |
9 | g.99146545A>C | CA374232925 | TGFBR1 | c.984A>C (p.Lys328Asn) c.996A>C (p.Lys332Asn) c.*113A>C (n.*113A>C) c.753A>C (p.Lys251Asn) c.*987A>C (n.*987A>C) c.1191A>C (p.Lys397Asn) c.960A>C (p.Lys320Asn) c.1143-1109A>C (n.1143-1109A>C) c.1203A>C (p.Lys401Asn) | |
9 | g.99146545A>G | CA466435338 | TGFBR1 | c.984A>G (p.Lys328=) c.996A>G (p.Lys332=) c.*113A>G (n.*113A>G) c.753A>G (p.Lys251=) c.*987A>G (n.*987A>G) c.1191A>G (p.Lys397=) c.960A>G (p.Lys320=) c.1143-1109A>G (n.1143-1109A>G) c.1203A>G (p.Lys401=) | |
9 | g.99146545A>T | CA374232926 | TGFBR1 | c.984A>T (p.Lys328Asn) c.996A>T (p.Lys332Asn) c.*113A>T (n.*113A>T) c.753A>T (p.Lys251Asn) c.*987A>T (n.*987A>T) c.1191A>T (p.Lys397Asn) c.960A>T (p.Lys320Asn) c.1143-1109A>T (n.1143-1109A>T) c.1203A>T (p.Lys401Asn) | |
9 | g.99146546C>A | CA374232928 | TGFBR1 | c.985C>A (p.Arg329Ser) c.997C>A (p.Arg333Ser) c.*114C>A (n.*114C>A) c.754C>A (p.Arg252Ser) c.*988C>A (n.*988C>A) c.1192C>A (p.Arg398Ser) c.961C>A (p.Arg321Ser) c.1143-1108C>A (n.1143-1108C>A) c.1204C>A (p.Arg402Ser) | |
9 | g.99146546C= | CA1867263854 | TGFBR1 | c.985C= (p.Arg329=) c.997C= (p.Arg333=) c.*114C= (n.*114C=) c.754C= (p.Arg252=) c.*988C= (n.*988C=) c.1192C= (p.Arg398=) c.961C= (p.Arg321=) c.1143-1108C= (n.1143-1108C=) c.1204C= (p.Arg402=) | |
9 | g.99146546C>G | CA374232931 | TGFBR1 | c.985C>G (p.Arg329Gly) c.997C>G (p.Arg333Gly) c.*114C>G (n.*114C>G) c.754C>G (p.Arg252Gly) c.*988C>G (n.*988C>G) c.1192C>G (p.Arg398Gly) c.961C>G (p.Arg321Gly) c.1143-1108C>G (n.1143-1108C>G) c.1204C>G (p.Arg402Gly) | |
9 | g.99146546C>T | CA374232932 | TGFBR1 | c.985C>T (p.Arg329Cys) c.997C>T (p.Arg333Cys) c.*114C>T (n.*114C>T) c.754C>T (p.Arg252Cys) c.*988C>T (n.*988C>T) c.1192C>T (p.Arg398Cys) c.961C>T (p.Arg321Cys) c.1143-1108C>T (n.1143-1108C>T) c.1204C>T (p.Arg402Cys) | dbSNP gnomAD v4 |
9 | g.99146547G>A | CA044253 | TGFBR1 | c.986G>A (p.Arg329His) c.998G>A (p.Arg333His) c.*115G>A (n.*115G>A) c.755G>A (p.Arg252His) c.*989G>A (n.*989G>A) c.1193G>A (p.Arg398His) c.962G>A (p.Arg321His) c.1143-1107G>A (n.1143-1107G>A) c.1205G>A (p.Arg402His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146547G>C | CA374232935 | TGFBR1 | c.986G>C (p.Arg329Pro) c.998G>C (p.Arg333Pro) c.*115G>C (n.*115G>C) c.755G>C (p.Arg252Pro) c.*989G>C (n.*989G>C) c.1193G>C (p.Arg398Pro) c.962G>C (p.Arg321Pro) c.1143-1107G>C (n.1143-1107G>C) c.1205G>C (p.Arg402Pro) | |
9 | g.99146547G= | CA1867263857 | TGFBR1 | c.986G= (p.Arg329=) c.998G= (p.Arg333=) c.*115G= (n.*115G=) c.755G= (p.Arg252=) c.*989G= (n.*989G=) c.1193G= (p.Arg398=) c.962G= (p.Arg321=) c.1143-1107G= (n.1143-1107G=) c.1205G= (p.Arg402=) | |
9 | g.99146547G>T | CA374232933 | TGFBR1 | c.986G>T (p.Arg329Leu) c.998G>T (p.Arg333Leu) c.*115G>T (n.*115G>T) c.755G>T (p.Arg252Leu) c.*989G>T (n.*989G>T) c.1193G>T (p.Arg398Leu) c.962G>T (p.Arg321Leu) c.1143-1107G>T (n.1143-1107G>T) c.1205G>T (p.Arg402Leu) | gnomAD v4 |
9 | g.99146548T>A | CA466435342 | TGFBR1 | c.987T>A (p.Arg329=) c.999T>A (p.Arg333=) c.*116T>A (n.*116T>A) c.756T>A (p.Arg252=) c.*990T>A (n.*990T>A) c.1194T>A (p.Arg398=) c.963T>A (p.Arg321=) c.1143-1106T>A (n.1143-1106T>A) c.1206T>A (p.Arg402=) | |
9 | g.99146548T>C | CA466435343 | TGFBR1 | c.987T>C (p.Arg329=) c.999T>C (p.Arg333=) c.*116T>C (n.*116T>C) c.756T>C (p.Arg252=) c.*990T>C (n.*990T>C) c.1194T>C (p.Arg398=) c.963T>C (p.Arg321=) c.1143-1106T>C (n.1143-1106T>C) c.1206T>C (p.Arg402=) | ClinVar |
9 | g.99146548T>G | CA466435344 | TGFBR1 | c.987T>G (p.Arg329=) c.999T>G (p.Arg333=) c.*116T>G (n.*116T>G) c.756T>G (p.Arg252=) c.*990T>G (n.*990T>G) c.1194T>G (p.Arg398=) c.963T>G (p.Arg321=) c.1143-1106T>G (n.1143-1106T>G) c.1206T>G (p.Arg402=) | |
9 | g.99146549G>A | CA374232937 | TGFBR1 | c.988G>A (p.Ala330Thr) c.1000G>A (p.Ala334Thr) c.*117G>A (n.*117G>A) c.757G>A (p.Ala253Thr) c.*991G>A (n.*991G>A) c.1195G>A (p.Ala399Thr) c.964G>A (p.Ala322Thr) c.1143-1105G>A (n.1143-1105G>A) c.1207G>A (p.Ala403Thr) | dbSNP |
9 | g.99146549G>C | CA374232939 | TGFBR1 | c.988G>C (p.Ala330Pro) c.1000G>C (p.Ala334Pro) c.*117G>C (n.*117G>C) c.757G>C (p.Ala253Pro) c.*991G>C (n.*991G>C) c.1195G>C (p.Ala399Pro) c.964G>C (p.Ala322Pro) c.1143-1105G>C (n.1143-1105G>C) c.1207G>C (p.Ala403Pro) | |
9 | g.99146549G= | CA1867263859 | TGFBR1 | c.988G= (p.Ala330=) c.1000G= (p.Ala334=) c.*117G= (n.*117G=) c.757G= (p.Ala253=) c.*991G= (n.*991G=) c.1195G= (p.Ala399=) c.964G= (p.Ala322=) c.1143-1105G= (n.1143-1105G=) c.1207G= (p.Ala403=) | |
9 | g.99146549G>T | CA374232942 | TGFBR1 | c.988G>T (p.Ala330Ser) c.1000G>T (p.Ala334Ser) c.*117G>T (n.*117G>T) c.757G>T (p.Ala253Ser) c.*991G>T (n.*991G>T) c.1195G>T (p.Ala399Ser) c.964G>T (p.Ala322Ser) c.1143-1105G>T (n.1143-1105G>T) c.1207G>T (p.Ala403Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146550C>A | CA374232945 | TGFBR1 | c.989C>A (p.Ala330Asp) c.1001C>A (p.Ala334Asp) c.*118C>A (n.*118C>A) c.758C>A (p.Ala253Asp) c.*992C>A (n.*992C>A) c.1196C>A (p.Ala399Asp) c.965C>A (p.Ala322Asp) c.1143-1104C>A (n.1143-1104C>A) c.1208C>A (p.Ala403Asp) | |
9 | g.99146550C= | CA1867263863 | TGFBR1 | c.989C= (p.Ala330=) c.1001C= (p.Ala334=) c.*118C= (n.*118C=) c.758C= (p.Ala253=) c.*992C= (n.*992C=) c.1196C= (p.Ala399=) c.965C= (p.Ala322=) c.1143-1104C= (n.1143-1104C=) c.1208C= (p.Ala403=) | |
9 | g.99146550C>G | CA374232946 | TGFBR1 | c.989C>G (p.Ala330Gly) c.1001C>G (p.Ala334Gly) c.*118C>G (n.*118C>G) c.758C>G (p.Ala253Gly) c.*992C>G (n.*992C>G) c.1196C>G (p.Ala399Gly) c.965C>G (p.Ala322Gly) c.1143-1104C>G (n.1143-1104C>G) c.1208C>G (p.Ala403Gly) | ClinVar dbSNP gnomAD v4 |
9 | g.99146550C>T | CA374232947 | TGFBR1 | c.989C>T (p.Ala330Val) c.1001C>T (p.Ala334Val) c.*118C>T (n.*118C>T) c.758C>T (p.Ala253Val) c.*992C>T (n.*992C>T) c.1196C>T (p.Ala399Val) c.965C>T (p.Ala322Val) c.1143-1104C>T (n.1143-1104C>T) c.1208C>T (p.Ala403Val) | |
9 | g.99146551T>A | CA466435347 | TGFBR1 | c.990T>A (p.Ala330=) c.1002T>A (p.Ala334=) c.*119T>A (n.*119T>A) c.759T>A (p.Ala253=) c.*993T>A (n.*993T>A) c.1197T>A (p.Ala399=) c.966T>A (p.Ala322=) c.1143-1103T>A (n.1143-1103T>A) c.1209T>A (p.Ala403=) | |
9 | g.99146551T>C | CA466435350 | TGFBR1 | c.990T>C (p.Ala330=) c.1002T>C (p.Ala334=) c.*119T>C (n.*119T>C) c.759T>C (p.Ala253=) c.*993T>C (n.*993T>C) c.1197T>C (p.Ala399=) c.966T>C (p.Ala322=) c.1143-1103T>C (n.1143-1103T>C) c.1209T>C (p.Ala403=) | gnomAD v4 |
9 | g.99146551T>G | CA466435345 | TGFBR1 | c.990T>G (p.Ala330=) c.1002T>G (p.Ala334=) c.*119T>G (n.*119T>G) c.759T>G (p.Ala253=) c.*993T>G (n.*993T>G) c.1197T>G (p.Ala399=) c.966T>G (p.Ala322=) c.1143-1103T>G (n.1143-1103T>G) c.1209T>G (p.Ala403=) | gnomAD v4 |
9 | g.99146552G>A | CA374232951 | TGFBR1 | c.991G>A (p.Asp331Asn) c.1003G>A (p.Asp335Asn) c.*120G>A (n.*120G>A) c.760G>A (p.Asp254Asn) c.*994G>A (n.*994G>A) c.1198G>A (p.Asp400Asn) c.967G>A (p.Asp323Asn) c.1143-1102G>A (n.1143-1102G>A) c.1210G>A (p.Asp404Asn) | ClinVar dbSNP |
9 | g.99146552G>C | CA374232948 | TGFBR1 | c.991G>C (p.Asp331His) c.1003G>C (p.Asp335His) c.*120G>C (n.*120G>C) c.760G>C (p.Asp254His) c.*994G>C (n.*994G>C) c.1198G>C (p.Asp400His) c.967G>C (p.Asp323His) c.1143-1102G>C (n.1143-1102G>C) c.1210G>C (p.Asp404His) | COSMIC |
9 | g.99146552G>T | CA374232950 | TGFBR1 | c.991G>T (p.Asp331Tyr) c.1003G>T (p.Asp335Tyr) c.*120G>T (n.*120G>T) c.760G>T (p.Asp254Tyr) c.*994G>T (n.*994G>T) c.1198G>T (p.Asp400Tyr) c.967G>T (p.Asp323Tyr) c.1143-1102G>T (n.1143-1102G>T) c.1210G>T (p.Asp404Tyr) | dbSNP COSMIC |
9 | g.99146553A= | CA1867263867 | TGFBR1 | c.992A= (p.Asp331=) c.1004A= (p.Asp335=) c.*121A= (n.*121A=) c.761A= (p.Asp254=) c.*995A= (n.*995A=) c.1199A= (p.Asp400=) c.968A= (p.Asp323=) c.1143-1101A= (n.1143-1101A=) c.1211A= (p.Asp404=) | |
9 | g.99146553A>C | CA374232953 | TGFBR1 | c.992A>C (p.Asp331Ala) c.1004A>C (p.Asp335Ala) c.*121A>C (n.*121A>C) c.761A>C (p.Asp254Ala) c.*995A>C (n.*995A>C) c.1199A>C (p.Asp400Ala) c.968A>C (p.Asp323Ala) c.1143-1101A>C (n.1143-1101A>C) c.1211A>C (p.Asp404Ala) | |
9 | g.99146553A>G | CA008717 | TGFBR1 | c.992A>G (p.Asp331Gly) c.1004A>G (p.Asp335Gly) c.*121A>G (n.*121A>G) c.761A>G (p.Asp254Gly) c.*995A>G (n.*995A>G) c.1199A>G (p.Asp400Gly) c.968A>G (p.Asp323Gly) c.1143-1101A>G (n.1143-1101A>G) c.1211A>G (p.Asp404Gly) | ClinVar dbSNP |
9 | g.99146553A>T | CA374232956 | TGFBR1 | c.992A>T (p.Asp331Val) c.1004A>T (p.Asp335Val) c.*121A>T (n.*121A>T) c.761A>T (p.Asp254Val) c.*995A>T (n.*995A>T) c.1199A>T (p.Asp400Val) c.968A>T (p.Asp323Val) c.1143-1101A>T (n.1143-1101A>T) c.1211A>T (p.Asp404Val) | |
9 | g.99146554C>A | CA374232957 | TGFBR1 | c.993C>A (p.Asp331Glu) c.1005C>A (p.Asp335Glu) c.*122C>A (n.*122C>A) c.762C>A (p.Asp254Glu) c.*996C>A (n.*996C>A) c.1200C>A (p.Asp400Glu) c.969C>A (p.Asp323Glu) c.1143-1100C>A (n.1143-1100C>A) c.1212C>A (p.Asp404Glu) | |
9 | g.99146554C= | CA1867263871 | TGFBR1 | c.993C= (p.Asp331=) c.1005C= (p.Asp335=) c.*122C= (n.*122C=) c.762C= (p.Asp254=) c.*996C= (n.*996C=) c.1200C= (p.Asp400=) c.969C= (p.Asp323=) c.1143-1100C= (n.1143-1100C=) c.1212C= (p.Asp404=) | |
9 | g.99146554C>G | CA374232958 | TGFBR1 | c.993C>G (p.Asp331Glu) c.1005C>G (p.Asp335Glu) c.*122C>G (n.*122C>G) c.762C>G (p.Asp254Glu) c.*996C>G (n.*996C>G) c.1200C>G (p.Asp400Glu) c.969C>G (p.Asp323Glu) c.1143-1100C>G (n.1143-1100C>G) c.1212C>G (p.Asp404Glu) | |
9 | g.99146554C>T | CA466435356 | TGFBR1 | c.993C>T (p.Asp331=) c.1005C>T (p.Asp335=) c.*122C>T (n.*122C>T) c.762C>T (p.Asp254=) c.*996C>T (n.*996C>T) c.1200C>T (p.Asp400=) c.969C>T (p.Asp323=) c.1143-1100C>T (n.1143-1100C>T) c.1212C>T (p.Asp404=) | dbSNP gnomAD v4 |
9 | g.99146555A>C | CA374232959 | TGFBR1 | c.994A>C (p.Ile332Leu) c.1006A>C (p.Ile336Leu) c.*123A>C (n.*123A>C) c.763A>C (p.Ile255Leu) c.*997A>C (n.*997A>C) c.1201A>C (p.Ile401Leu) c.970A>C (p.Ile324Leu) c.1143-1099A>C (n.1143-1099A>C) c.1213A>C (p.Ile405Leu) | |
9 | g.99146555A>G | CA374232961 | TGFBR1 | c.994A>G (p.Ile332Val) c.1006A>G (p.Ile336Val) c.*123A>G (n.*123A>G) c.763A>G (p.Ile255Val) c.*997A>G (n.*997A>G) c.1201A>G (p.Ile401Val) c.970A>G (p.Ile324Val) c.1143-1099A>G (n.1143-1099A>G) c.1213A>G (p.Ile405Val) | ClinVar |
9 | g.99146555A>T | CA374232963 | TGFBR1 | c.994A>T (p.Ile332Phe) c.1006A>T (p.Ile336Phe) c.*123A>T (n.*123A>T) c.763A>T (p.Ile255Phe) c.*997A>T (n.*997A>T) c.1201A>T (p.Ile401Phe) c.970A>T (p.Ile324Phe) c.1143-1099A>T (n.1143-1099A>T) c.1213A>T (p.Ile405Phe) | |
9 | g.99146556T>A | CA374232966 | TGFBR1 | c.995T>A (p.Ile332Asn) c.1007T>A (p.Ile336Asn) c.*124T>A (n.*124T>A) c.764T>A (p.Ile255Asn) c.*998T>A (n.*998T>A) c.1202T>A (p.Ile401Asn) c.971T>A (p.Ile324Asn) c.1143-1098T>A (n.1143-1098T>A) c.1214T>A (p.Ile405Asn) | dbSNP gnomAD v2 |
9 | g.99146556T>C | CA374232967 | TGFBR1 | c.995T>C (p.Ile332Thr) c.1007T>C (p.Ile336Thr) c.*124T>C (n.*124T>C) c.764T>C (p.Ile255Thr) c.*998T>C (n.*998T>C) c.1202T>C (p.Ile401Thr) c.971T>C (p.Ile324Thr) c.1143-1098T>C (n.1143-1098T>C) c.1214T>C (p.Ile405Thr) | |
9 | g.99146556T>G | CA374232969 | TGFBR1 | c.995T>G (p.Ile332Ser) c.1007T>G (p.Ile336Ser) c.*124T>G (n.*124T>G) c.764T>G (p.Ile255Ser) c.*998T>G (n.*998T>G) c.1202T>G (p.Ile401Ser) c.971T>G (p.Ile324Ser) c.1143-1098T>G (n.1143-1098T>G) c.1214T>G (p.Ile405Ser) | |
9 | g.99146556T= | CA1867263874 | TGFBR1 | c.995T= (p.Ile332=) c.1007T= (p.Ile336=) c.*124T= (n.*124T=) c.764T= (p.Ile255=) c.*998T= (n.*998T=) c.1202T= (p.Ile401=) c.971T= (p.Ile324=) c.1143-1098T= (n.1143-1098T=) c.1214T= (p.Ile405=) | |
9 | g.99146557C>A | CA466435364 | TGFBR1 | c.996C>A (p.Ile332=) c.1008C>A (p.Ile336=) c.*125C>A (n.*125C>A) c.765C>A (p.Ile255=) c.*999C>A (n.*999C>A) c.1203C>A (p.Ile401=) c.972C>A (p.Ile324=) c.1143-1097C>A (n.1143-1097C>A) c.1215C>A (p.Ile405=) | ClinVar dbSNP gnomAD v4 |
9 | g.99146557C= | CA1867263880 | TGFBR1 | c.996C= (p.Ile332=) c.1008C= (p.Ile336=) c.*125C= (n.*125C=) c.765C= (p.Ile255=) c.*999C= (n.*999C=) c.1203C= (p.Ile401=) c.972C= (p.Ile324=) c.1143-1097C= (n.1143-1097C=) c.1215C= (p.Ile405=) | |
9 | g.99146557C>G | CA374232971 | TGFBR1 | c.996C>G (p.Ile332Met) c.1008C>G (p.Ile336Met) c.*125C>G (n.*125C>G) c.765C>G (p.Ile255Met) c.*999C>G (n.*999C>G) c.1203C>G (p.Ile401Met) c.972C>G (p.Ile324Met) c.1143-1097C>G (n.1143-1097C>G) c.1215C>G (p.Ile405Met) | ClinVar gnomAD v4 |
9 | g.99146557C>T | CA044274 | TGFBR1 | c.996C>T (p.Ile332=) c.1008C>T (p.Ile336=) c.*125C>T (n.*125C>T) c.765C>T (p.Ile255=) c.*999C>T (n.*999C>T) c.1203C>T (p.Ile401=) c.972C>T (p.Ile324=) c.1143-1097C>T (n.1143-1097C>T) c.1215C>T (p.Ile405=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146558T>A | CA374232974 | TGFBR1 | c.997T>A (p.Tyr333Asn) c.1009T>A (p.Tyr337Asn) c.*126T>A (n.*126T>A) c.766T>A (p.Tyr256Asn) c.*1000T>A (n.*1000T>A) c.1204T>A (p.Tyr402Asn) c.973T>A (p.Tyr325Asn) c.1143-1096T>A (n.1143-1096T>A) c.1216T>A (p.Tyr406Asn) | |
9 | g.99146558T>C | CA374232977 | TGFBR1 | c.997T>C (p.Tyr333His) c.1009T>C (p.Tyr337His) c.*126T>C (n.*126T>C) c.766T>C (p.Tyr256His) c.*1000T>C (n.*1000T>C) c.1204T>C (p.Tyr402His) c.973T>C (p.Tyr325His) c.1143-1096T>C (n.1143-1096T>C) c.1216T>C (p.Tyr406His) | |
9 | g.99146558T>G | CA374232976 | TGFBR1 | c.997T>G (p.Tyr333Asp) c.1009T>G (p.Tyr337Asp) c.*126T>G (n.*126T>G) c.766T>G (p.Tyr256Asp) c.*1000T>G (n.*1000T>G) c.1204T>G (p.Tyr402Asp) c.973T>G (p.Tyr325Asp) c.1143-1096T>G (n.1143-1096T>G) c.1216T>G (p.Tyr406Asp) | |
9 | g.99146558_99146559insTTGG | CA2720314617 | TGFBR1 | c.997_998insTTGG (p.Tyr333PhefsTer22) c.1009_1010insTTGG (p.Tyr337PhefsTer22) c.*126_*127insTTGG (n.*126_*127insTTGG) c.766_767insTTGG (p.Tyr256PhefsTer22) c.*1000_*1001insTTGG (n.*1000_*1001insTTGG) c.1204_1205insTTGG (p.Tyr402PhefsTer22) c.973_974insTTGG (p.Tyr325PhefsTer22) c.1143-1096_1143-1095insTTGG (n.1143-1096_1143-1095insTTGG) c.1216_1217insTTGG (p.Tyr406PhefsTer22) | dbSNP |
9 | g.99146559A= | CA1867263886 | TGFBR1 | c.998A= (p.Tyr333=) c.1010A= (p.Tyr337=) c.*127A= (n.*127A=) c.767A= (p.Tyr256=) c.*1001A= (n.*1001A=) c.1205A= (p.Tyr402=) c.974A= (p.Tyr325=) c.1143-1095A= (n.1143-1095A=) c.1217A= (p.Tyr406=) | |
9 | g.99146559A>C | CA374232979 | TGFBR1 | c.998A>C (p.Tyr333Ser) c.1010A>C (p.Tyr337Ser) c.*127A>C (n.*127A>C) c.767A>C (p.Tyr256Ser) c.*1001A>C (n.*1001A>C) c.1205A>C (p.Tyr402Ser) c.974A>C (p.Tyr325Ser) c.1143-1095A>C (n.1143-1095A>C) c.1217A>C (p.Tyr406Ser) | |
9 | g.99146559A>G | CA044286 | TGFBR1 | c.998A>G (p.Tyr333Cys) c.1010A>G (p.Tyr337Cys) c.*127A>G (n.*127A>G) c.767A>G (p.Tyr256Cys) c.*1001A>G (n.*1001A>G) c.1205A>G (p.Tyr402Cys) c.974A>G (p.Tyr325Cys) c.1143-1095A>G (n.1143-1095A>G) c.1217A>G (p.Tyr406Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146559A>T | CA374232981 | TGFBR1 | c.998A>T (p.Tyr333Phe) c.1010A>T (p.Tyr337Phe) c.*127A>T (n.*127A>T) c.767A>T (p.Tyr256Phe) c.*1001A>T (n.*1001A>T) c.1205A>T (p.Tyr402Phe) c.974A>T (p.Tyr325Phe) c.1143-1095A>T (n.1143-1095A>T) c.1217A>T (p.Tyr406Phe) | |
9 | g.99146560T>A | CA374232982 | TGFBR1 | c.999T>A (p.Tyr333Ter) c.1011T>A (p.Tyr337Ter) c.*128T>A (n.*128T>A) c.768T>A (p.Tyr256Ter) c.*1002T>A (n.*1002T>A) c.1206T>A (p.Tyr402Ter) c.975T>A (p.Tyr325Ter) c.1143-1094T>A (n.1143-1094T>A) c.1218T>A (p.Tyr406Ter) | |
9 | g.99146560T>C | CA466435371 | TGFBR1 | c.999T>C (p.Tyr333=) c.1011T>C (p.Tyr337=) c.*128T>C (n.*128T>C) c.768T>C (p.Tyr256=) c.*1002T>C (n.*1002T>C) c.1206T>C (p.Tyr402=) c.975T>C (p.Tyr325=) c.1143-1094T>C (n.1143-1094T>C) c.1218T>C (p.Tyr406=) | |
9 | g.99146560T>G | CA374232983 | TGFBR1 | c.999T>G (p.Tyr333Ter) c.1011T>G (p.Tyr337Ter) c.*128T>G (n.*128T>G) c.768T>G (p.Tyr256Ter) c.*1002T>G (n.*1002T>G) c.1206T>G (p.Tyr402Ter) c.975T>G (p.Tyr325Ter) c.1143-1094T>G (n.1143-1094T>G) c.1218T>G (p.Tyr406Ter) | |
9 | g.99146561G>A | CA374232985 | TGFBR1 | c.1000G>A (p.Ala334Thr) c.1012G>A (p.Ala338Thr) c.*129G>A (n.*129G>A) c.769G>A (p.Ala257Thr) c.*1003G>A (n.*1003G>A) c.1207G>A (p.Ala403Thr) c.976G>A (p.Ala326Thr) c.1143-1093G>A (n.1143-1093G>A) c.1219G>A (p.Ala407Thr) | |
9 | g.99146561G>C | CA374232988 | TGFBR1 | c.1000G>C (p.Ala334Pro) c.1012G>C (p.Ala338Pro) c.*129G>C (n.*129G>C) c.769G>C (p.Ala257Pro) c.*1003G>C (n.*1003G>C) c.1207G>C (p.Ala403Pro) c.976G>C (p.Ala326Pro) c.1143-1093G>C (n.1143-1093G>C) c.1219G>C (p.Ala407Pro) | |
9 | g.99146561G>T | CA374232990 | TGFBR1 | c.1000G>T (p.Ala334Ser) c.1012G>T (p.Ala338Ser) c.*129G>T (n.*129G>T) c.769G>T (p.Ala257Ser) c.*1003G>T (n.*1003G>T) c.1207G>T (p.Ala403Ser) c.976G>T (p.Ala326Ser) c.1143-1093G>T (n.1143-1093G>T) c.1219G>T (p.Ala407Ser) | |
9 | g.99146561_99146562insAACCTCCTTTCAGA | CA2720314621 | TGFBR1 | c.1000_1001insAACCTCCTTTCAGA (p.Ala334GlufsTer9) c.1012_1013insAACCTCCTTTCAGA (p.Ala338GlufsTer9) c.*129_*130insAACCTCCTTTCAGA (n.*129_*130insAACCTCCTTTCAGA) c.769_770insAACCTCCTTTCAGA (p.Ala257GlufsTer9) c.*1003_*1004insAACCTCCTTTCAGA (n.*1003_*1004insAACCTCCTTTCAGA) c.1207_1208insAACCTCCTTTCAGA (p.Ala403GlufsTer9) c.976_977insAACCTCCTTTCAGA (p.Ala326GlufsTer9) c.1143-1093_1143-1092insAACCTCCTTTCAGA (n.1143-1093_1143-1092insAACCTCCTTTCAGA) c.1219_1220insAACCTCCTTTCAGA (p.Ala407GlufsTer9) | dbSNP |
9 | g.99146562C>A | CA374232992 | TGFBR1 | c.1001C>A (p.Ala334Glu) c.1013C>A (p.Ala338Glu) c.*130C>A (n.*130C>A) c.770C>A (p.Ala257Glu) c.*1004C>A (n.*1004C>A) c.1208C>A (p.Ala403Glu) c.977C>A (p.Ala326Glu) c.1143-1092C>A (n.1143-1092C>A) c.1220C>A (p.Ala407Glu) | |
9 | g.99146562C= | CA1867263890 | TGFBR1 | c.1001C= (p.Ala334=) c.1013C= (p.Ala338=) c.*130C= (n.*130C=) c.770C= (p.Ala257=) c.*1004C= (n.*1004C=) c.1208C= (p.Ala403=) c.977C= (p.Ala326=) c.1143-1092C= (n.1143-1092C=) c.1220C= (p.Ala407=) | |
9 | g.99146562C>G | CA044303 | TGFBR1 | c.1001C>G (p.Ala334Gly) c.1013C>G (p.Ala338Gly) c.*130C>G (n.*130C>G) c.770C>G (p.Ala257Gly) c.*1004C>G (n.*1004C>G) c.1208C>G (p.Ala403Gly) c.977C>G (p.Ala326Gly) c.1143-1092C>G (n.1143-1092C>G) c.1220C>G (p.Ala407Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146562C>T | CA044324 | TGFBR1 | c.1001C>T (p.Ala334Val) c.1013C>T (p.Ala338Val) c.*130C>T (n.*130C>T) c.770C>T (p.Ala257Val) c.*1004C>T (n.*1004C>T) c.1208C>T (p.Ala403Val) c.977C>T (p.Ala326Val) c.1143-1092C>T (n.1143-1092C>T) c.1220C>T (p.Ala407Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146563A>C | CA466435373 | TGFBR1 | c.1002A>C (p.Ala334=) c.1014A>C (p.Ala338=) c.*131A>C (n.*131A>C) c.771A>C (p.Ala257=) c.*1005A>C (n.*1005A>C) c.1209A>C (p.Ala403=) c.978A>C (p.Ala326=) c.1143-1091A>C (n.1143-1091A>C) c.1221A>C (p.Ala407=) | |
9 | g.99146563A>G | CA466435375 | TGFBR1 | c.1002A>G (p.Ala334=) c.1014A>G (p.Ala338=) c.*131A>G (n.*131A>G) c.771A>G (p.Ala257=) c.*1005A>G (n.*1005A>G) c.1209A>G (p.Ala403=) c.978A>G (p.Ala326=) c.1143-1091A>G (n.1143-1091A>G) c.1221A>G (p.Ala407=) | |
9 | g.99146563A>T | CA466435377 | TGFBR1 | c.1002A>T (p.Ala334=) c.1014A>T (p.Ala338=) c.*131A>T (n.*131A>T) c.771A>T (p.Ala257=) c.*1005A>T (n.*1005A>T) c.1209A>T (p.Ala403=) c.978A>T (p.Ala326=) c.1143-1091A>T (n.1143-1091A>T) c.1221A>T (p.Ala407=) | |
9 | g.99146564A= | CA1867263895 | TGFBR1 | c.1003A= (p.Met335=) c.1015A= (p.Met339=) c.*132A= (n.*132A=) c.772A= (p.Met258=) c.*1006A= (n.*1006A=) c.1210A= (p.Met404=) c.979A= (p.Met327=) c.1143-1090A= (n.1143-1090A=) c.1222A= (p.Met408=) | |
9 | g.99146564A>C | CA374233000 | TGFBR1 | c.1003A>C (p.Met335Leu) c.1015A>C (p.Met339Leu) c.*132A>C (n.*132A>C) c.772A>C (p.Met258Leu) c.*1006A>C (n.*1006A>C) c.1210A>C (p.Met404Leu) c.979A>C (p.Met327Leu) c.1143-1090A>C (n.1143-1090A>C) c.1222A>C (p.Met408Leu) | |
9 | g.99146564A>G | CA044334 | TGFBR1 | c.1003A>G (p.Met335Val) c.1015A>G (p.Met339Val) c.*132A>G (n.*132A>G) c.772A>G (p.Met258Val) c.*1006A>G (n.*1006A>G) c.1210A>G (p.Met404Val) c.979A>G (p.Met327Val) c.1143-1090A>G (n.1143-1090A>G) c.1222A>G (p.Met408Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146564A>T | CA374232997 | TGFBR1 | c.1003A>T (p.Met335Leu) c.1015A>T (p.Met339Leu) c.*132A>T (n.*132A>T) c.772A>T (p.Met258Leu) c.*1006A>T (n.*1006A>T) c.1210A>T (p.Met404Leu) c.979A>T (p.Met327Leu) c.1143-1090A>T (n.1143-1090A>T) c.1222A>T (p.Met408Leu) | dbSNP |
9 | g.99146565T>A | CA374233002 | TGFBR1 | c.1004T>A (p.Met335Lys) c.1016T>A (p.Met339Lys) c.*133T>A (n.*133T>A) c.773T>A (p.Met258Lys) c.*1007T>A (n.*1007T>A) c.1211T>A (p.Met404Lys) c.980T>A (p.Met327Lys) c.1143-1089T>A (n.1143-1089T>A) c.1223T>A (p.Met408Lys) | |
9 | g.99146565T>C | CA374233005 | TGFBR1 | c.1004T>C (p.Met335Thr) c.1016T>C (p.Met339Thr) c.*133T>C (n.*133T>C) c.773T>C (p.Met258Thr) c.*1007T>C (n.*1007T>C) c.1211T>C (p.Met404Thr) c.980T>C (p.Met327Thr) c.1143-1089T>C (n.1143-1089T>C) c.1223T>C (p.Met408Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146565T>G | CA374233007 | TGFBR1 | c.1004T>G (p.Met335Arg) c.1016T>G (p.Met339Arg) c.*133T>G (n.*133T>G) c.773T>G (p.Met258Arg) c.*1007T>G (n.*1007T>G) c.1211T>G (p.Met404Arg) c.980T>G (p.Met327Arg) c.1143-1089T>G (n.1143-1089T>G) c.1223T>G (p.Met408Arg) | |
9 | g.99146565T= | CA1867263899 | TGFBR1 | c.1004T= (p.Met335=) c.1016T= (p.Met339=) c.*133T= (n.*133T=) c.773T= (p.Met258=) c.*1007T= (n.*1007T=) c.1211T= (p.Met404=) c.980T= (p.Met327=) c.1143-1089T= (n.1143-1089T=) c.1223T= (p.Met408=) | |
9 | g.99146566G>A | CA374233012 | TGFBR1 | c.1005G>A (p.Met335Ile) c.1017G>A (p.Met339Ile) c.*134G>A (n.*134G>A) c.774G>A (p.Met258Ile) c.*1008G>A (n.*1008G>A) c.1212G>A (p.Met404Ile) c.981G>A (p.Met327Ile) c.1143-1088G>A (n.1143-1088G>A) c.1224G>A (p.Met408Ile) | |
9 | g.99146566G>C | CA374233014 | TGFBR1 | c.1005G>C (p.Met335Ile) c.1017G>C (p.Met339Ile) c.*134G>C (n.*134G>C) c.774G>C (p.Met258Ile) c.*1008G>C (n.*1008G>C) c.1212G>C (p.Met404Ile) c.981G>C (p.Met327Ile) c.1143-1088G>C (n.1143-1088G>C) c.1224G>C (p.Met408Ile) | |
9 | g.99146566G>T | CA374233019 | TGFBR1 | c.1005G>T (p.Met335Ile) c.1017G>T (p.Met339Ile) c.*134G>T (n.*134G>T) c.774G>T (p.Met258Ile) c.*1008G>T (n.*1008G>T) c.1212G>T (p.Met404Ile) c.981G>T (p.Met327Ile) c.1143-1088G>T (n.1143-1088G>T) c.1224G>T (p.Met408Ile) | gnomAD v4 |
9 | g.99146567G>A | CA374233022 | TGFBR1 | c.1006G>A (p.Gly336Ser) c.1018G>A (p.Gly340Ser) c.*135G>A (n.*135G>A) c.775G>A (p.Gly259Ser) c.*1009G>A (n.*1009G>A) c.1213G>A (p.Gly405Ser) c.982G>A (p.Gly328Ser) c.1143-1087G>A (n.1143-1087G>A) c.1225G>A (p.Gly409Ser) | |
9 | g.99146567G>C | CA374233023 | TGFBR1 | c.1006G>C (p.Gly336Arg) c.1018G>C (p.Gly340Arg) c.*135G>C (n.*135G>C) c.775G>C (p.Gly259Arg) c.*1009G>C (n.*1009G>C) c.1213G>C (p.Gly405Arg) c.982G>C (p.Gly328Arg) c.1143-1087G>C (n.1143-1087G>C) c.1225G>C (p.Gly409Arg) | |
9 | g.99146567G>T | CA374233025 | TGFBR1 | c.1006G>T (p.Gly336Cys) c.1018G>T (p.Gly340Cys) c.*135G>T (n.*135G>T) c.775G>T (p.Gly259Cys) c.*1009G>T (n.*1009G>T) c.1213G>T (p.Gly405Cys) c.982G>T (p.Gly328Cys) c.1143-1087G>T (n.1143-1087G>T) c.1225G>T (p.Gly409Cys) | |
9 | g.99146568G>A | CA374233027 | TGFBR1 | c.1007G>A (p.Gly336Asp) c.1019G>A (p.Gly340Asp) c.*136G>A (n.*136G>A) c.776G>A (p.Gly259Asp) c.*1010G>A (n.*1010G>A) c.1214G>A (p.Gly405Asp) c.983G>A (p.Gly328Asp) c.1143-1086G>A (n.1143-1086G>A) c.1226G>A (p.Gly409Asp) | dbSNP |
9 | g.99146568G>C | CA374233028 | TGFBR1 | c.1007G>C (p.Gly336Ala) c.1019G>C (p.Gly340Ala) c.*136G>C (n.*136G>C) c.776G>C (p.Gly259Ala) c.*1010G>C (n.*1010G>C) c.1214G>C (p.Gly405Ala) c.983G>C (p.Gly328Ala) c.1143-1086G>C (n.1143-1086G>C) c.1226G>C (p.Gly409Ala) | |
9 | g.99146568G>T | CA374233029 | TGFBR1 | c.1007G>T (p.Gly336Val) c.1019G>T (p.Gly340Val) c.*136G>T (n.*136G>T) c.776G>T (p.Gly259Val) c.*1010G>T (n.*1010G>T) c.1214G>T (p.Gly405Val) c.983G>T (p.Gly328Val) c.1143-1086G>T (n.1143-1086G>T) c.1226G>T (p.Gly409Val) | gnomAD v4 |
9 | g.99146569C>A | CA466435379 | TGFBR1 | c.1008C>A (p.Gly336=) c.1020C>A (p.Gly340=) c.*137C>A (n.*137C>A) c.777C>A (p.Gly259=) c.*1011C>A (n.*1011C>A) c.1215C>A (p.Gly405=) c.984C>A (p.Gly328=) c.1143-1085C>A (n.1143-1085C>A) c.1227C>A (p.Gly409=) | |
9 | g.99146569C>G | CA466435380 | TGFBR1 | c.1008C>G (p.Gly336=) c.1020C>G (p.Gly340=) c.*137C>G (n.*137C>G) c.777C>G (p.Gly259=) c.*1011C>G (n.*1011C>G) c.1215C>G (p.Gly405=) c.984C>G (p.Gly328=) c.1143-1085C>G (n.1143-1085C>G) c.1227C>G (p.Gly409=) | |
9 | g.99146569C>T | CA466435381 | TGFBR1 | c.1008C>T (p.Gly336=) c.1020C>T (p.Gly340=) c.*137C>T (n.*137C>T) c.777C>T (p.Gly259=) c.*1011C>T (n.*1011C>T) c.1215C>T (p.Gly405=) c.984C>T (p.Gly328=) c.1143-1085C>T (n.1143-1085C>T) c.1227C>T (p.Gly409=) | |
9 | g.99146570T>A | CA044656 | TGFBR1 | c.1009T>A (p.Leu337Ile) c.1021T>A (p.Leu341Ile) c.*138T>A (n.*138T>A) c.778T>A (p.Leu260Ile) c.*1012T>A (n.*1012T>A) c.1216T>A (p.Leu406Ile) c.985T>A (p.Leu329Ile) c.1143-1084T>A (n.1143-1084T>A) c.1228T>A (p.Leu410Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146570T>C | CA008730 | TGFBR1 | c.1009T>C (p.Leu337=) c.1021T>C (p.Leu341=) c.*138T>C (n.*138T>C) c.778T>C (p.Leu260=) c.*1012T>C (n.*1012T>C) c.1216T>C (p.Leu406=) c.985T>C (p.Leu329=) c.1143-1084T>C (n.1143-1084T>C) c.1228T>C (p.Leu410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146570T>G | CA374233033 | TGFBR1 | c.1009T>G (p.Leu337Val) c.1021T>G (p.Leu341Val) c.*138T>G (n.*138T>G) c.778T>G (p.Leu260Val) c.*1012T>G (n.*1012T>G) c.1216T>G (p.Leu406Val) c.985T>G (p.Leu329Val) c.1143-1084T>G (n.1143-1084T>G) c.1228T>G (p.Leu410Val) | COSMIC |
9 | g.99146570T= | CA1867263905 | TGFBR1 | c.1009T= (p.Leu337=) c.1021T= (p.Leu341=) c.*138T= (n.*138T=) c.778T= (p.Leu260=) c.*1012T= (n.*1012T=) c.1216T= (p.Leu406=) c.985T= (p.Leu329=) c.1143-1084T= (n.1143-1084T=) c.1228T= (p.Leu410=) | |
9 | g.99146571T>A | CA374233036 | TGFBR1 | c.1010T>A (p.Leu337Ter) c.1022T>A (p.Leu341Ter) c.*139T>A (n.*139T>A) c.779T>A (p.Leu260Ter) c.*1013T>A (n.*1013T>A) c.1217T>A (p.Leu406Ter) c.986T>A (p.Leu329Ter) c.1143-1083T>A (n.1143-1083T>A) c.1229T>A (p.Leu410Ter) | |
9 | g.99146571T>C | CA374233037 | TGFBR1 | c.1010T>C (p.Leu337Ser) c.1022T>C (p.Leu341Ser) c.*139T>C (n.*139T>C) c.779T>C (p.Leu260Ser) c.*1013T>C (n.*1013T>C) c.1217T>C (p.Leu406Ser) c.986T>C (p.Leu329Ser) c.1143-1083T>C (n.1143-1083T>C) c.1229T>C (p.Leu410Ser) | |
9 | g.99146571T>G | CA374233039 | TGFBR1 | c.1010T>G (p.Leu337Ter) c.1022T>G (p.Leu341Ter) c.*139T>G (n.*139T>G) c.779T>G (p.Leu260Ter) c.*1013T>G (n.*1013T>G) c.1217T>G (p.Leu406Ter) c.986T>G (p.Leu329Ter) c.1143-1083T>G (n.1143-1083T>G) c.1229T>G (p.Leu410Ter) | |
9 | g.99146572A= | CA1867263915 | TGFBR1 | c.1011A= (p.Leu337=) c.1023A= (p.Leu341=) c.*140A= (n.*140A=) c.780A= (p.Leu260=) c.*1014A= (n.*1014A=) c.1218A= (p.Leu406=) c.987A= (p.Leu329=) c.1143-1082A= (n.1143-1082A=) c.1230A= (p.Leu410=) | |
9 | g.99146572A>C | CA374233040 | TGFBR1 | c.1011A>C (p.Leu337Phe) c.1023A>C (p.Leu341Phe) c.*140A>C (n.*140A>C) c.780A>C (p.Leu260Phe) c.*1014A>C (n.*1014A>C) c.1218A>C (p.Leu406Phe) c.987A>C (p.Leu329Phe) c.1143-1082A>C (n.1143-1082A>C) c.1230A>C (p.Leu410Phe) | |
9 | g.99146572A>G | CA044775 | TGFBR1 | c.1011A>G (p.Leu337=) c.1023A>G (p.Leu341=) c.*140A>G (n.*140A>G) c.780A>G (p.Leu260=) c.*1014A>G (n.*1014A>G) c.1218A>G (p.Leu406=) c.987A>G (p.Leu329=) c.1143-1082A>G (n.1143-1082A>G) c.1230A>G (p.Leu410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146572A>T | CA374233042 | TGFBR1 | c.1011A>T (p.Leu337Phe) c.1023A>T (p.Leu341Phe) c.*140A>T (n.*140A>T) c.780A>T (p.Leu260Phe) c.*1014A>T (n.*1014A>T) c.1218A>T (p.Leu406Phe) c.987A>T (p.Leu329Phe) c.1143-1082A>T (n.1143-1082A>T) c.1230A>T (p.Leu410Phe) | |
9 | g.99146573G>A | CA374233049 | TGFBR1 | c.1012G>A (p.Val338Ile) c.1024G>A (p.Val342Ile) c.*141G>A (n.*141G>A) c.781G>A (p.Val261Ile) c.*1015G>A (n.*1015G>A) c.1219G>A (p.Val407Ile) c.988G>A (p.Val330Ile) c.1143-1081G>A (n.1143-1081G>A) c.1231G>A (p.Val411Ile) | COSMIC |
9 | g.99146573G>C | CA196894196 | TGFBR1 | c.1012G>C (p.Val338Leu) c.1024G>C (p.Val342Leu) c.*141G>C (n.*141G>C) c.781G>C (p.Val261Leu) c.*1015G>C (n.*1015G>C) c.1219G>C (p.Val407Leu) c.988G>C (p.Val330Leu) c.1143-1081G>C (n.1143-1081G>C) c.1231G>C (p.Val411Leu) | dbSNP |
9 | g.99146573G= | CA1867263921 | TGFBR1 | c.1012G= (p.Val338=) c.1024G= (p.Val342=) c.*141G= (n.*141G=) c.781G= (p.Val261=) c.*1015G= (n.*1015G=) c.1219G= (p.Val407=) c.988G= (p.Val330=) c.1143-1081G= (n.1143-1081G=) c.1231G= (p.Val411=) | |
9 | g.99146573G>T | CA374233045 | TGFBR1 | c.1012G>T (p.Val338Leu) c.1024G>T (p.Val342Leu) c.*141G>T (n.*141G>T) c.781G>T (p.Val261Leu) c.*1015G>T (n.*1015G>T) c.1219G>T (p.Val407Leu) c.988G>T (p.Val330Leu) c.1143-1081G>T (n.1143-1081G>T) c.1231G>T (p.Val411Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99146574T>A | CA374233051 | TGFBR1 | c.1013T>A (p.Val338Glu) c.1025T>A (p.Val342Glu) c.*142T>A (n.*142T>A) c.782T>A (p.Val261Glu) c.*1016T>A (n.*1016T>A) c.1220T>A (p.Val407Glu) c.989T>A (p.Val330Glu) c.1143-1080T>A (n.1143-1080T>A) c.1232T>A (p.Val411Glu) | |
9 | g.99146574T>C | CA374233053 | TGFBR1 | c.1013T>C (p.Val338Ala) c.1025T>C (p.Val342Ala) c.*142T>C (n.*142T>C) c.782T>C (p.Val261Ala) c.*1016T>C (n.*1016T>C) c.1220T>C (p.Val407Ala) c.989T>C (p.Val330Ala) c.1143-1080T>C (n.1143-1080T>C) c.1232T>C (p.Val411Ala) | |
9 | g.99146574T>G | CA374233054 | TGFBR1 | c.1013T>G (p.Val338Gly) c.1025T>G (p.Val342Gly) c.*142T>G (n.*142T>G) c.782T>G (p.Val261Gly) c.*1016T>G (n.*1016T>G) c.1220T>G (p.Val407Gly) c.989T>G (p.Val330Gly) c.1143-1080T>G (n.1143-1080T>G) c.1232T>G (p.Val411Gly) | |
9 | g.99146575A>C | CA466435386 | TGFBR1 | c.1014A>C (p.Val338=) c.1026A>C (p.Val342=) c.*143A>C (n.*143A>C) c.783A>C (p.Val261=) c.*1017A>C (n.*1017A>C) c.1221A>C (p.Val407=) c.990A>C (p.Val330=) c.1143-1079A>C (n.1143-1079A>C) c.1233A>C (p.Val411=) | |
9 | g.99146575A>G | CA466435387 | TGFBR1 | c.1014A>G (p.Val338=) c.1026A>G (p.Val342=) c.*143A>G (n.*143A>G) c.783A>G (p.Val261=) c.*1017A>G (n.*1017A>G) c.1221A>G (p.Val407=) c.990A>G (p.Val330=) c.1143-1079A>G (n.1143-1079A>G) c.1233A>G (p.Val411=) | gnomAD v4 |
9 | g.99146575A>T | CA466435388 | TGFBR1 | c.1014A>T (p.Val338=) c.1026A>T (p.Val342=) c.*143A>T (n.*143A>T) c.783A>T (p.Val261=) c.*1017A>T (n.*1017A>T) c.1221A>T (p.Val407=) c.990A>T (p.Val330=) c.1143-1079A>T (n.1143-1079A>T) c.1233A>T (p.Val411=) | |
9 | g.99146576T>A | CA374233057 | TGFBR1 | c.1015T>A (p.Phe339Ile) c.1027T>A (p.Phe343Ile) c.*144T>A (n.*144T>A) c.784T>A (p.Phe262Ile) c.*1018T>A (n.*1018T>A) c.1222T>A (p.Phe408Ile) c.991T>A (p.Phe331Ile) c.1143-1078T>A (n.1143-1078T>A) c.1234T>A (p.Phe412Ile) | ClinVar dbSNP |
9 | g.99146576T>C | CA374233059 | TGFBR1 | c.1015T>C (p.Phe339Leu) c.1027T>C (p.Phe343Leu) c.*144T>C (n.*144T>C) c.784T>C (p.Phe262Leu) c.*1018T>C (n.*1018T>C) c.1222T>C (p.Phe408Leu) c.991T>C (p.Phe331Leu) c.1143-1078T>C (n.1143-1078T>C) c.1234T>C (p.Phe412Leu) | |
9 | g.99146576T>G | CA374233061 | TGFBR1 | c.1015T>G (p.Phe339Val) c.1027T>G (p.Phe343Val) c.*144T>G (n.*144T>G) c.784T>G (p.Phe262Val) c.*1018T>G (n.*1018T>G) c.1222T>G (p.Phe408Val) c.991T>G (p.Phe331Val) c.1143-1078T>G (n.1143-1078T>G) c.1234T>G (p.Phe412Val) | |
9 | g.99146576T= | CA1867263925 | TGFBR1 | c.1015T= (p.Phe339=) c.1027T= (p.Phe343=) c.*144T= (n.*144T=) c.784T= (p.Phe262=) c.*1018T= (n.*1018T=) c.1222T= (p.Phe408=) c.991T= (p.Phe331=) c.1143-1078T= (n.1143-1078T=) c.1234T= (p.Phe412=) | |
9 | g.99146577T>A | CA374233066 | TGFBR1 | c.1016T>A (p.Phe339Tyr) c.1028T>A (p.Phe343Tyr) c.*145T>A (n.*145T>A) c.785T>A (p.Phe262Tyr) c.*1019T>A (n.*1019T>A) c.1223T>A (p.Phe408Tyr) c.992T>A (p.Phe331Tyr) c.1143-1077T>A (n.1143-1077T>A) c.1235T>A (p.Phe412Tyr) | gnomAD v4 |
9 | g.99146577T>C | CA374233063 | TGFBR1 | c.1016T>C (p.Phe339Ser) c.1028T>C (p.Phe343Ser) c.*145T>C (n.*145T>C) c.785T>C (p.Phe262Ser) c.*1019T>C (n.*1019T>C) c.1223T>C (p.Phe408Ser) c.992T>C (p.Phe331Ser) c.1143-1077T>C (n.1143-1077T>C) c.1235T>C (p.Phe412Ser) | |
9 | g.99146577T>G | CA374233064 | TGFBR1 | c.1016T>G (p.Phe339Cys) c.1028T>G (p.Phe343Cys) c.*145T>G (n.*145T>G) c.785T>G (p.Phe262Cys) c.*1019T>G (n.*1019T>G) c.1223T>G (p.Phe408Cys) c.992T>G (p.Phe331Cys) c.1143-1077T>G (n.1143-1077T>G) c.1235T>G (p.Phe412Cys) | |
9 | g.99146578C>A | CA374233068 | TGFBR1 | c.1017C>A (p.Phe339Leu) c.1029C>A (p.Phe343Leu) c.*146C>A (n.*146C>A) c.786C>A (p.Phe262Leu) c.*1020C>A (n.*1020C>A) c.1224C>A (p.Phe408Leu) c.993C>A (p.Phe331Leu) c.1143-1076C>A (n.1143-1076C>A) c.1236C>A (p.Phe412Leu) | |
9 | g.99146578C>G | CA374233070 | TGFBR1 | c.1017C>G (p.Phe339Leu) c.1029C>G (p.Phe343Leu) c.*146C>G (n.*146C>G) c.786C>G (p.Phe262Leu) c.*1020C>G (n.*1020C>G) c.1224C>G (p.Phe408Leu) c.993C>G (p.Phe331Leu) c.1143-1076C>G (n.1143-1076C>G) c.1236C>G (p.Phe412Leu) | ClinVar |
9 | g.99146578C>T | CA466435390 | TGFBR1 | c.1017C>T (p.Phe339=) c.1029C>T (p.Phe343=) c.*146C>T (n.*146C>T) c.786C>T (p.Phe262=) c.*1020C>T (n.*1020C>T) c.1224C>T (p.Phe408=) c.993C>T (p.Phe331=) c.1143-1076C>T (n.1143-1076C>T) c.1236C>T (p.Phe412=) | |
9 | g.99146579T>A | CA374233073 | TGFBR1 | c.1018T>A (p.Trp340Arg) c.1030T>A (p.Trp344Arg) c.*147T>A (n.*147T>A) c.787T>A (p.Trp263Arg) c.*1021T>A (n.*1021T>A) c.1225T>A (p.Trp409Arg) c.994T>A (p.Trp332Arg) c.1143-1075T>A (n.1143-1075T>A) c.1237T>A (p.Trp413Arg) | |
9 | g.99146579T>C | CA374233075 | TGFBR1 | c.1018T>C (p.Trp340Arg) c.1030T>C (p.Trp344Arg) c.*147T>C (n.*147T>C) c.787T>C (p.Trp263Arg) c.*1021T>C (n.*1021T>C) c.1225T>C (p.Trp409Arg) c.994T>C (p.Trp332Arg) c.1143-1075T>C (n.1143-1075T>C) c.1237T>C (p.Trp413Arg) | |
9 | g.99146579T>G | CA374233077 | TGFBR1 | c.1018T>G (p.Trp340Gly) c.1030T>G (p.Trp344Gly) c.*147T>G (n.*147T>G) c.787T>G (p.Trp263Gly) c.*1021T>G (n.*1021T>G) c.1225T>G (p.Trp409Gly) c.994T>G (p.Trp332Gly) c.1143-1075T>G (n.1143-1075T>G) c.1237T>G (p.Trp413Gly) | |
9 | g.99146582_99146610dup | CA2739264896 | TGFBR1 | c.1021_1048+1dup c.1033_1060+1dup c.*150_*177+1dup c.790_817+1dup c.*1024_*1051+1dup c.1228_1255+1dup c.997_1024+1dup c.1143-1072_1143-1044dup (n.1143-1072_1143-1044dup) c.1240_1267+1dup | ClinVar |
9 | g.99146580G>A | CA374233083 | TGFBR1 | c.1019G>A (p.Trp340Ter) c.1031G>A (p.Trp344Ter) c.*148G>A (n.*148G>A) c.788G>A (p.Trp263Ter) c.*1022G>A (n.*1022G>A) c.1226G>A (p.Trp409Ter) c.995G>A (p.Trp332Ter) c.1143-1074G>A (n.1143-1074G>A) c.1238G>A (p.Trp413Ter) | |
9 | g.99146580G>C | CA374233082 | TGFBR1 | c.1019G>C (p.Trp340Ser) c.1031G>C (p.Trp344Ser) c.*148G>C (n.*148G>C) c.788G>C (p.Trp263Ser) c.*1022G>C (n.*1022G>C) c.1226G>C (p.Trp409Ser) c.995G>C (p.Trp332Ser) c.1143-1074G>C (n.1143-1074G>C) c.1238G>C (p.Trp413Ser) | |
9 | g.99146580G>T | CA374233080 | TGFBR1 | c.1019G>T (p.Trp340Leu) c.1031G>T (p.Trp344Leu) c.*148G>T (n.*148G>T) c.788G>T (p.Trp263Leu) c.*1022G>T (n.*1022G>T) c.1226G>T (p.Trp409Leu) c.995G>T (p.Trp332Leu) c.1143-1074G>T (n.1143-1074G>T) c.1238G>T (p.Trp413Leu) | |
9 | g.99146581G>A | CA374233086 | TGFBR1 | c.1020G>A (p.Trp340Ter) c.1032G>A (p.Trp344Ter) c.*149G>A (n.*149G>A) c.789G>A (p.Trp263Ter) c.*1023G>A (n.*1023G>A) c.1227G>A (p.Trp409Ter) c.996G>A (p.Trp332Ter) c.1143-1073G>A (n.1143-1073G>A) c.1239G>A (p.Trp413Ter) | |
9 | g.99146581G>C | CA374233088 | TGFBR1 | c.1020G>C (p.Trp340Cys) c.1032G>C (p.Trp344Cys) c.*149G>C (n.*149G>C) c.789G>C (p.Trp263Cys) c.*1023G>C (n.*1023G>C) c.1227G>C (p.Trp409Cys) c.996G>C (p.Trp332Cys) c.1143-1073G>C (n.1143-1073G>C) c.1239G>C (p.Trp413Cys) | |
9 | g.99146581G>T | CA374233092 | TGFBR1 | c.1020G>T (p.Trp340Cys) c.1032G>T (p.Trp344Cys) c.*149G>T (n.*149G>T) c.789G>T (p.Trp263Cys) c.*1023G>T (n.*1023G>T) c.1227G>T (p.Trp409Cys) c.996G>T (p.Trp332Cys) c.1143-1073G>T (n.1143-1073G>T) c.1239G>T (p.Trp413Cys) | |
9 | g.99146582G>A | CA374233094 | TGFBR1 | c.1021G>A (p.Glu341Lys) c.1033G>A (p.Glu345Lys) c.*150G>A (n.*150G>A) c.790G>A (p.Glu264Lys) c.*1024G>A (n.*1024G>A) c.1228G>A (p.Glu410Lys) c.997G>A (p.Glu333Lys) c.1143-1072G>A (n.1143-1072G>A) c.1240G>A (p.Glu414Lys) | |
9 | g.99146582G>C | CA374233096 | TGFBR1 | c.1021G>C (p.Glu341Gln) c.1033G>C (p.Glu345Gln) c.*150G>C (n.*150G>C) c.790G>C (p.Glu264Gln) c.*1024G>C (n.*1024G>C) c.1228G>C (p.Glu410Gln) c.997G>C (p.Glu333Gln) c.1143-1072G>C (n.1143-1072G>C) c.1240G>C (p.Glu414Gln) | |
9 | g.99146582G>T | CA374233100 | TGFBR1 | c.1021G>T (p.Glu341Ter) c.1033G>T (p.Glu345Ter) c.*150G>T (n.*150G>T) c.790G>T (p.Glu264Ter) c.*1024G>T (n.*1024G>T) c.1228G>T (p.Glu410Ter) c.997G>T (p.Glu333Ter) c.1143-1072G>T (n.1143-1072G>T) c.1240G>T (p.Glu414Ter) | |
9 | g.99146583A= | CA1867263931 | TGFBR1 | c.1022A= (p.Glu341=) c.1034A= (p.Glu345=) c.*151A= (n.*151A=) c.791A= (p.Glu264=) c.*1025A= (n.*1025A=) c.1229A= (p.Glu410=) c.998A= (p.Glu333=) c.1143-1071A= (n.1143-1071A=) c.1241A= (p.Glu414=) | |
9 | g.99146583A>C | CA374233103 | TGFBR1 | c.1022A>C (p.Glu341Ala) c.1034A>C (p.Glu345Ala) c.*151A>C (n.*151A>C) c.791A>C (p.Glu264Ala) c.*1025A>C (n.*1025A>C) c.1229A>C (p.Glu410Ala) c.998A>C (p.Glu333Ala) c.1143-1071A>C (n.1143-1071A>C) c.1241A>C (p.Glu414Ala) | gnomAD v4 |
9 | g.99146583A>G | CA374233107 | TGFBR1 | c.1022A>G (p.Glu341Gly) c.1034A>G (p.Glu345Gly) c.*151A>G (n.*151A>G) c.791A>G (p.Glu264Gly) c.*1025A>G (n.*1025A>G) c.1229A>G (p.Glu410Gly) c.998A>G (p.Glu333Gly) c.1143-1071A>G (n.1143-1071A>G) c.1241A>G (p.Glu414Gly) | ClinVar dbSNP |
9 | g.99146583A>T | CA374233105 | TGFBR1 | c.1022A>T (p.Glu341Val) c.1034A>T (p.Glu345Val) c.*151A>T (n.*151A>T) c.791A>T (p.Glu264Val) c.*1025A>T (n.*1025A>T) c.1229A>T (p.Glu410Val) c.998A>T (p.Glu333Val) c.1143-1071A>T (n.1143-1071A>T) c.1241A>T (p.Glu414Val) | |
9 | g.99146592_99146620del | CA2580610796 | TGFBR1 | c.1031_1048+11del c.1043_1060+11del c.*160_*177+11del c.800_817+11del c.*1034_*1051+11del c.1238_1255+11del c.1007_1024+11del c.1143-1062_1143-1034del (n.1143-1062_1143-1034del) c.1250_1267+11del | |
9 | g.99146584A= | CA1867263933 | TGFBR1 | c.1023A= (p.Glu341=) c.1035A= (p.Glu345=) c.*152A= (n.*152A=) c.792A= (p.Glu264=) c.*1026A= (n.*1026A=) c.1230A= (p.Glu410=) c.999A= (p.Glu333=) c.1143-1070A= (n.1143-1070A=) c.1242A= (p.Glu414=) | |
9 | g.99146584A>C | CA374233108 | TGFBR1 | c.1023A>C (p.Glu341Asp) c.1035A>C (p.Glu345Asp) c.*152A>C (n.*152A>C) c.792A>C (p.Glu264Asp) c.*1026A>C (n.*1026A>C) c.1230A>C (p.Glu410Asp) c.999A>C (p.Glu333Asp) c.1143-1070A>C (n.1143-1070A>C) c.1242A>C (p.Glu414Asp) | |
9 | g.99146584A>G | CA466435392 | TGFBR1 | c.1023A>G (p.Glu341=) c.1035A>G (p.Glu345=) c.*152A>G (n.*152A>G) c.792A>G (p.Glu264=) c.*1026A>G (n.*1026A>G) c.1230A>G (p.Glu410=) c.999A>G (p.Glu333=) c.1143-1070A>G (n.1143-1070A>G) c.1242A>G (p.Glu414=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146584A>T | CA374233109 | TGFBR1 | c.1023A>T (p.Glu341Asp) c.1035A>T (p.Glu345Asp) c.*152A>T (n.*152A>T) c.792A>T (p.Glu264Asp) c.*1026A>T (n.*1026A>T) c.1230A>T (p.Glu410Asp) c.999A>T (p.Glu333Asp) c.1143-1070A>T (n.1143-1070A>T) c.1242A>T (p.Glu414Asp) | |
9 | g.99146585A= | CA1867263936 | TGFBR1 | c.1024A= (p.Ile342=) c.1036A= (p.Ile346=) c.*153A= (n.*153A=) c.793A= (p.Ile265=) c.*1027A= (n.*1027A=) c.1231A= (p.Ile411=) c.1000A= (p.Ile334=) c.1143-1069A= (n.1143-1069A=) c.1243A= (p.Ile415=) | |
9 | g.99146585A>C | CA374233111 | TGFBR1 | c.1024A>C (p.Ile342Leu) c.1036A>C (p.Ile346Leu) c.*153A>C (n.*153A>C) c.793A>C (p.Ile265Leu) c.*1027A>C (n.*1027A>C) c.1231A>C (p.Ile411Leu) c.1000A>C (p.Ile334Leu) c.1143-1069A>C (n.1143-1069A>C) c.1243A>C (p.Ile415Leu) | |
9 | g.99146585A>G | CA324752 | TGFBR1 | c.1024A>G (p.Ile342Val) c.1036A>G (p.Ile346Val) c.*153A>G (n.*153A>G) c.793A>G (p.Ile265Val) c.*1027A>G (n.*1027A>G) c.1231A>G (p.Ile411Val) c.1000A>G (p.Ile334Val) c.1143-1069A>G (n.1143-1069A>G) c.1243A>G (p.Ile415Val) | ClinVar dbSNP |
9 | g.99146585A>T | CA374233113 | TGFBR1 | c.1024A>T (p.Ile342Phe) c.1036A>T (p.Ile346Phe) c.*153A>T (n.*153A>T) c.793A>T (p.Ile265Phe) c.*1027A>T (n.*1027A>T) c.1231A>T (p.Ile411Phe) c.1000A>T (p.Ile334Phe) c.1143-1069A>T (n.1143-1069A>T) c.1243A>T (p.Ile415Phe) | |
9 | g.99146586T>A | CA374233115 | TGFBR1 | c.1025T>A (p.Ile342Asn) c.1037T>A (p.Ile346Asn) c.*154T>A (n.*154T>A) c.794T>A (p.Ile265Asn) c.*1028T>A (n.*1028T>A) c.1232T>A (p.Ile411Asn) c.1001T>A (p.Ile334Asn) c.1143-1068T>A (n.1143-1068T>A) c.1244T>A (p.Ile415Asn) | |
9 | g.99146586T>C | CA039998 | TGFBR1 | c.1025T>C (p.Ile342Thr) c.1037T>C (p.Ile346Thr) c.*154T>C (n.*154T>C) c.794T>C (p.Ile265Thr) c.*1028T>C (n.*1028T>C) c.1232T>C (p.Ile411Thr) c.1001T>C (p.Ile334Thr) c.1143-1068T>C (n.1143-1068T>C) c.1244T>C (p.Ile415Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146586T>G | CA374233118 | TGFBR1 | c.1025T>G (p.Ile342Ser) c.1037T>G (p.Ile346Ser) c.*154T>G (n.*154T>G) c.794T>G (p.Ile265Ser) c.*1028T>G (n.*1028T>G) c.1232T>G (p.Ile411Ser) c.1001T>G (p.Ile334Ser) c.1143-1068T>G (n.1143-1068T>G) c.1244T>G (p.Ile415Ser) | |
9 | g.99146586T= | CA1867263938 | TGFBR1 | c.1025T= (p.Ile342=) c.1037T= (p.Ile346=) c.*154T= (n.*154T=) c.794T= (p.Ile265=) c.*1028T= (n.*1028T=) c.1232T= (p.Ile411=) c.1001T= (p.Ile334=) c.1143-1068T= (n.1143-1068T=) c.1244T= (p.Ile415=) | |
9 | g.99146587T>A | CA466435394 | TGFBR1 | c.1026T>A (p.Ile342=) c.1038T>A (p.Ile346=) c.*155T>A (n.*155T>A) c.795T>A (p.Ile265=) c.*1029T>A (n.*1029T>A) c.1233T>A (p.Ile411=) c.1002T>A (p.Ile334=) c.1143-1067T>A (n.1143-1067T>A) c.1245T>A (p.Ile415=) | |
9 | g.99146587T>C | CA466435395 | TGFBR1 | c.1026T>C (p.Ile342=) c.1038T>C (p.Ile346=) c.*155T>C (n.*155T>C) c.795T>C (p.Ile265=) c.*1029T>C (n.*1029T>C) c.1233T>C (p.Ile411=) c.1002T>C (p.Ile334=) c.1143-1067T>C (n.1143-1067T>C) c.1245T>C (p.Ile415=) | gnomAD v4 |
9 | g.99146587T>G | CA374233119 | TGFBR1 | c.1026T>G (p.Ile342Met) c.1038T>G (p.Ile346Met) c.*155T>G (n.*155T>G) c.795T>G (p.Ile265Met) c.*1029T>G (n.*1029T>G) c.1233T>G (p.Ile411Met) c.1002T>G (p.Ile334Met) c.1143-1067T>G (n.1143-1067T>G) c.1245T>G (p.Ile415Met) | |
9 | g.99146588G>A | CA374233121 | TGFBR1 | c.1027G>A (p.Ala343Thr) c.1039G>A (p.Ala347Thr) c.*156G>A (n.*156G>A) c.796G>A (p.Ala266Thr) c.*1030G>A (n.*1030G>A) c.1234G>A (p.Ala412Thr) c.1003G>A (p.Ala335Thr) c.1143-1066G>A (n.1143-1066G>A) c.1246G>A (p.Ala416Thr) | dbSNP |
9 | g.99146588G>C | CA374233123 | TGFBR1 | c.1027G>C (p.Ala343Pro) c.1039G>C (p.Ala347Pro) c.*156G>C (n.*156G>C) c.796G>C (p.Ala266Pro) c.*1030G>C (n.*1030G>C) c.1234G>C (p.Ala412Pro) c.1003G>C (p.Ala335Pro) c.1143-1066G>C (n.1143-1066G>C) c.1246G>C (p.Ala416Pro) | gnomAD v4 |
9 | g.99146588G= | CA1867263941 | TGFBR1 | c.1027G= (p.Ala343=) c.1039G= (p.Ala347=) c.*156G= (n.*156G=) c.796G= (p.Ala266=) c.*1030G= (n.*1030G=) c.1234G= (p.Ala412=) c.1003G= (p.Ala335=) c.1143-1066G= (n.1143-1066G=) c.1246G= (p.Ala416=) | |
9 | g.99146588G>T | CA374233125 | TGFBR1 | c.1027G>T (p.Ala343Ser) c.1039G>T (p.Ala347Ser) c.*156G>T (n.*156G>T) c.796G>T (p.Ala266Ser) c.*1030G>T (n.*1030G>T) c.1234G>T (p.Ala412Ser) c.1003G>T (p.Ala335Ser) c.1143-1066G>T (n.1143-1066G>T) c.1246G>T (p.Ala416Ser) | dbSNP |
9 | g.99146589C>A | CA374233131 | TGFBR1 | c.1028C>A (p.Ala343Asp) c.1040C>A (p.Ala347Asp) c.*157C>A (n.*157C>A) c.797C>A (p.Ala266Asp) c.*1031C>A (n.*1031C>A) c.1235C>A (p.Ala412Asp) c.1004C>A (p.Ala335Asp) c.1143-1065C>A (n.1143-1065C>A) c.1247C>A (p.Ala416Asp) | |
9 | g.99146589C= | CA1867263944 | TGFBR1 | c.1028C= (p.Ala343=) c.1040C= (p.Ala347=) c.*157C= (n.*157C=) c.797C= (p.Ala266=) c.*1031C= (n.*1031C=) c.1235C= (p.Ala412=) c.1004C= (p.Ala335=) c.1143-1065C= (n.1143-1065C=) c.1247C= (p.Ala416=) | |
9 | g.99146589C>G | CA196894221 | TGFBR1 | c.1028C>G (p.Ala343Gly) c.1040C>G (p.Ala347Gly) c.*157C>G (n.*157C>G) c.797C>G (p.Ala266Gly) c.*1031C>G (n.*1031C>G) c.1235C>G (p.Ala412Gly) c.1004C>G (p.Ala335Gly) c.1143-1065C>G (n.1143-1065C>G) c.1247C>G (p.Ala416Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146589C>T | CA374233128 | TGFBR1 | c.1028C>T (p.Ala343Val) c.1040C>T (p.Ala347Val) c.*157C>T (n.*157C>T) c.797C>T (p.Ala266Val) c.*1031C>T (n.*1031C>T) c.1235C>T (p.Ala412Val) c.1004C>T (p.Ala335Val) c.1143-1065C>T (n.1143-1065C>T) c.1247C>T (p.Ala416Val) | dbSNP |
9 | g.99146590T>A | CA466435397 | TGFBR1 | c.1029T>A (p.Ala343=) c.1041T>A (p.Ala347=) c.*158T>A (n.*158T>A) c.798T>A (p.Ala266=) c.*1032T>A (n.*1032T>A) c.1236T>A (p.Ala412=) c.1005T>A (p.Ala335=) c.1143-1064T>A (n.1143-1064T>A) c.1248T>A (p.Ala416=) | |
9 | g.99146590T>C | CA466435398 | TGFBR1 | c.1029T>C (p.Ala343=) c.1041T>C (p.Ala347=) c.*158T>C (n.*158T>C) c.798T>C (p.Ala266=) c.*1032T>C (n.*1032T>C) c.1236T>C (p.Ala412=) c.1005T>C (p.Ala335=) c.1143-1064T>C (n.1143-1064T>C) c.1248T>C (p.Ala416=) | |
9 | g.99146590T>G | CA196894233 | TGFBR1 | c.1029T>G (p.Ala343=) c.1041T>G (p.Ala347=) c.*158T>G (n.*158T>G) c.798T>G (p.Ala266=) c.*1032T>G (n.*1032T>G) c.1236T>G (p.Ala412=) c.1005T>G (p.Ala335=) c.1143-1064T>G (n.1143-1064T>G) c.1248T>G (p.Ala416=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99146590T= | CA1867263948 | TGFBR1 | c.1029T= (p.Ala343=) c.1041T= (p.Ala347=) c.*158T= (n.*158T=) c.798T= (p.Ala266=) c.*1032T= (n.*1032T=) c.1236T= (p.Ala412=) c.1005T= (p.Ala335=) c.1143-1064T= (n.1143-1064T=) c.1248T= (p.Ala416=) | |
9 | g.99146591C>A | CA466435399 | TGFBR1 | c.1030C>A (p.Arg344=) c.1042C>A (p.Arg348=) c.*159C>A (n.*159C>A) c.799C>A (p.Arg267=) c.*1033C>A (n.*1033C>A) c.1237C>A (p.Arg413=) c.1006C>A (p.Arg336=) c.1143-1063C>A (n.1143-1063C>A) c.1249C>A (p.Arg417=) | |
9 | g.99146591C= | CA1867263956 | TGFBR1 | c.1030C= (p.Arg344=) c.1042C= (p.Arg348=) c.*159C= (n.*159C=) c.799C= (p.Arg267=) c.*1033C= (n.*1033C=) c.1237C= (p.Arg413=) c.1006C= (p.Arg336=) c.1143-1063C= (n.1143-1063C=) c.1249C= (p.Arg417=) | |
9 | g.99146591C>G | CA374233135 | TGFBR1 | c.1030C>G (p.Arg344Gly) c.1042C>G (p.Arg348Gly) c.*159C>G (n.*159C>G) c.799C>G (p.Arg267Gly) c.*1033C>G (n.*1033C>G) c.1237C>G (p.Arg413Gly) c.1006C>G (p.Arg336Gly) c.1143-1063C>G (n.1143-1063C>G) c.1249C>G (p.Arg417Gly) | ClinVar |
9 | g.99146591C>T | CA196894240 | TGFBR1 | c.1030C>T (p.Arg344Ter) c.1042C>T (p.Arg348Ter) c.*159C>T (n.*159C>T) c.799C>T (p.Arg267Ter) c.*1033C>T (n.*1033C>T) c.1237C>T (p.Arg413Ter) c.1006C>T (p.Arg336Ter) c.1143-1063C>T (n.1143-1063C>T) c.1249C>T (p.Arg417Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
9 | g.99146592G>A | CA374233137 | TGFBR1 | c.1031G>A (p.Arg344Gln) c.1043G>A (p.Arg348Gln) c.*160G>A (n.*160G>A) c.800G>A (p.Arg267Gln) c.*1034G>A (n.*1034G>A) c.1238G>A (p.Arg413Gln) c.1007G>A (p.Arg336Gln) c.1143-1062G>A (n.1143-1062G>A) c.1250G>A (p.Arg417Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146592G>C | CA374233139 | TGFBR1 | c.1031G>C (p.Arg344Pro) c.1043G>C (p.Arg348Pro) c.*160G>C (n.*160G>C) c.800G>C (p.Arg267Pro) c.*1034G>C (n.*1034G>C) c.1238G>C (p.Arg413Pro) c.1007G>C (p.Arg336Pro) c.1143-1062G>C (n.1143-1062G>C) c.1250G>C (p.Arg417Pro) | |
9 | g.99146592G= | CA1867263964 | TGFBR1 | c.1031G= (p.Arg344=) c.1043G= (p.Arg348=) c.*160G= (n.*160G=) c.800G= (p.Arg267=) c.*1034G= (n.*1034G=) c.1238G= (p.Arg413=) c.1007G= (p.Arg336=) c.1143-1062G= (n.1143-1062G=) c.1250G= (p.Arg417=) | |
9 | g.99146592G>T | CA374233140 | TGFBR1 | c.1031G>T (p.Arg344Leu) c.1043G>T (p.Arg348Leu) c.*160G>T (n.*160G>T) c.800G>T (p.Arg267Leu) c.*1034G>T (n.*1034G>T) c.1238G>T (p.Arg413Leu) c.1007G>T (p.Arg336Leu) c.1143-1062G>T (n.1143-1062G>T) c.1250G>T (p.Arg417Leu) | |
9 | g.99146593A>C | CA466435402 | TGFBR1 | c.1032A>C (p.Arg344=) c.1044A>C (p.Arg348=) c.*161A>C (n.*161A>C) c.801A>C (p.Arg267=) c.*1035A>C (n.*1035A>C) c.1239A>C (p.Arg413=) c.1008A>C (p.Arg336=) c.1143-1061A>C (n.1143-1061A>C) c.1251A>C (p.Arg417=) | gnomAD v4 |
9 | g.99146593A>G | CA466435401 | TGFBR1 | c.1032A>G (p.Arg344=) c.1044A>G (p.Arg348=) c.*161A>G (n.*161A>G) c.801A>G (p.Arg267=) c.*1035A>G (n.*1035A>G) c.1239A>G (p.Arg413=) c.1008A>G (p.Arg336=) c.1143-1061A>G (n.1143-1061A>G) c.1251A>G (p.Arg417=) | |
9 | g.99146593A>T | CA466435400 | TGFBR1 | c.1032A>T (p.Arg344=) c.1044A>T (p.Arg348=) c.*161A>T (n.*161A>T) c.801A>T (p.Arg267=) c.*1035A>T (n.*1035A>T) c.1239A>T (p.Arg413=) c.1008A>T (p.Arg336=) c.1143-1061A>T (n.1143-1061A>T) c.1251A>T (p.Arg417=) | |
9 | g.99146594C>A | CA466435403 | TGFBR1 | c.1033C>A (p.Arg345=) c.1045C>A (p.Arg349=) c.*162C>A (n.*162C>A) c.802C>A (p.Arg268=) c.*1036C>A (n.*1036C>A) c.1240C>A (p.Arg414=) c.1009C>A (p.Arg337=) c.1143-1060C>A (n.1143-1060C>A) c.1252C>A (p.Arg418=) | |
9 | g.99146594C= | CA1867263967 | TGFBR1 | c.1033C= (p.Arg345=) c.1045C= (p.Arg349=) c.*162C= (n.*162C=) c.802C= (p.Arg268=) c.*1036C= (n.*1036C=) c.1240C= (p.Arg414=) c.1009C= (p.Arg337=) c.1143-1060C= (n.1143-1060C=) c.1252C= (p.Arg418=) | |
9 | g.99146594C>G | CA374233143 | TGFBR1 | c.1033C>G (p.Arg345Gly) c.1045C>G (p.Arg349Gly) c.*162C>G (n.*162C>G) c.802C>G (p.Arg268Gly) c.*1036C>G (n.*1036C>G) c.1240C>G (p.Arg414Gly) c.1009C>G (p.Arg337Gly) c.1143-1060C>G (n.1143-1060C>G) c.1252C>G (p.Arg418Gly) | |
9 | g.99146594C>T | CA008738 | TGFBR1 | c.1033C>T (p.Arg345Ter) c.1045C>T (p.Arg349Ter) c.*162C>T (n.*162C>T) c.802C>T (p.Arg268Ter) c.*1036C>T (n.*1036C>T) c.1240C>T (p.Arg414Ter) c.1009C>T (p.Arg337Ter) c.1143-1060C>T (n.1143-1060C>T) c.1252C>T (p.Arg418Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.99146595G>A | CA374233145 | TGFBR1 | c.1034G>A (p.Arg345Gln) c.1046G>A (p.Arg349Gln) c.*163G>A (n.*163G>A) c.803G>A (p.Arg268Gln) c.*1037G>A (n.*1037G>A) c.1241G>A (p.Arg414Gln) c.1010G>A (p.Arg337Gln) c.1143-1059G>A (n.1143-1059G>A) c.1253G>A (p.Arg418Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146595G>C | CA374233147 | TGFBR1 | c.1034G>C (p.Arg345Pro) c.1046G>C (p.Arg349Pro) c.*163G>C (n.*163G>C) c.803G>C (p.Arg268Pro) c.*1037G>C (n.*1037G>C) c.1241G>C (p.Arg414Pro) c.1010G>C (p.Arg337Pro) c.1143-1059G>C (n.1143-1059G>C) c.1253G>C (p.Arg418Pro) | |
9 | g.99146595G= | CA1867263972 | TGFBR1 | c.1034G= (p.Arg345=) c.1046G= (p.Arg349=) c.*163G= (n.*163G=) c.803G= (p.Arg268=) c.*1037G= (n.*1037G=) c.1241G= (p.Arg414=) c.1010G= (p.Arg337=) c.1143-1059G= (n.1143-1059G=) c.1253G= (p.Arg418=) | |
9 | g.99146595G>T | CA374233149 | TGFBR1 | c.1034G>T (p.Arg345Leu) c.1046G>T (p.Arg349Leu) c.*163G>T (n.*163G>T) c.803G>T (p.Arg268Leu) c.*1037G>T (n.*1037G>T) c.1241G>T (p.Arg414Leu) c.1010G>T (p.Arg337Leu) c.1143-1059G>T (n.1143-1059G>T) c.1253G>T (p.Arg418Leu) | dbSNP |
9 | g.99146596A>C | CA466435409 | TGFBR1 | c.1035A>C (p.Arg345=) c.1047A>C (p.Arg349=) c.*164A>C (n.*164A>C) c.804A>C (p.Arg268=) c.*1038A>C (n.*1038A>C) c.1242A>C (p.Arg414=) c.1011A>C (p.Arg337=) c.1143-1058A>C (n.1143-1058A>C) c.1254A>C (p.Arg418=) | |
9 | g.99146596A>G | CA466435408 | TGFBR1 | c.1035A>G (p.Arg345=) c.1047A>G (p.Arg349=) c.*164A>G (n.*164A>G) c.804A>G (p.Arg268=) c.*1038A>G (n.*1038A>G) c.1242A>G (p.Arg414=) c.1011A>G (p.Arg337=) c.1143-1058A>G (n.1143-1058A>G) c.1254A>G (p.Arg418=) | gnomAD v4 |
9 | g.99146596A>T | CA466435406 | TGFBR1 | c.1035A>T (p.Arg345=) c.1047A>T (p.Arg349=) c.*164A>T (n.*164A>T) c.804A>T (p.Arg268=) c.*1038A>T (n.*1038A>T) c.1242A>T (p.Arg414=) c.1011A>T (p.Arg337=) c.1143-1058A>T (n.1143-1058A>T) c.1254A>T (p.Arg418=) | |
9 | g.99146597T>A | CA374233152 | TGFBR1 | c.1036T>A (p.Cys346Ser) c.1048T>A (p.Cys350Ser) c.*165T>A (n.*165T>A) c.805T>A (p.Cys269Ser) c.*1039T>A (n.*1039T>A) c.1243T>A (p.Cys415Ser) c.1012T>A (p.Cys338Ser) c.1143-1057T>A (n.1143-1057T>A) c.1255T>A (p.Cys419Ser) | |
9 | g.99146597T>C | CA374233154 | TGFBR1 | c.1036T>C (p.Cys346Arg) c.1048T>C (p.Cys350Arg) c.*165T>C (n.*165T>C) c.805T>C (p.Cys269Arg) c.*1039T>C (n.*1039T>C) c.1243T>C (p.Cys415Arg) c.1012T>C (p.Cys338Arg) c.1143-1057T>C (n.1143-1057T>C) c.1255T>C (p.Cys419Arg) | dbSNP |
9 | g.99146597T>G | CA374233156 | TGFBR1 | c.1036T>G (p.Cys346Gly) c.1048T>G (p.Cys350Gly) c.*165T>G (n.*165T>G) c.805T>G (p.Cys269Gly) c.*1039T>G (n.*1039T>G) c.1243T>G (p.Cys415Gly) c.1012T>G (p.Cys338Gly) c.1143-1057T>G (n.1143-1057T>G) c.1255T>G (p.Cys419Gly) | |
9 | g.99146597T= | CA1867263974 | TGFBR1 | c.1036T= (p.Cys346=) c.1048T= (p.Cys350=) c.*165T= (n.*165T=) c.805T= (p.Cys269=) c.*1039T= (n.*1039T=) c.1243T= (p.Cys415=) c.1012T= (p.Cys338=) c.1143-1057T= (n.1143-1057T=) c.1255T= (p.Cys419=) | |
9 | g.99146598G>A | CA374233159 | TGFBR1 | c.1037G>A (p.Cys346Tyr) c.1049G>A (p.Cys350Tyr) c.*166G>A (n.*166G>A) c.806G>A (p.Cys269Tyr) c.*1040G>A (n.*1040G>A) c.1244G>A (p.Cys415Tyr) c.1013G>A (p.Cys338Tyr) c.1143-1056G>A (n.1143-1056G>A) c.1256G>A (p.Cys419Tyr) | gnomAD v4 |
9 | g.99146598G>C | CA374233162 | TGFBR1 | c.1037G>C (p.Cys346Ser) c.1049G>C (p.Cys350Ser) c.*166G>C (n.*166G>C) c.806G>C (p.Cys269Ser) c.*1040G>C (n.*1040G>C) c.1244G>C (p.Cys415Ser) c.1013G>C (p.Cys338Ser) c.1143-1056G>C (n.1143-1056G>C) c.1256G>C (p.Cys419Ser) | |
9 | g.99146598G>T | CA374233160 | TGFBR1 | c.1037G>T (p.Cys346Phe) c.1049G>T (p.Cys350Phe) c.*166G>T (n.*166G>T) c.806G>T (p.Cys269Phe) c.*1040G>T (n.*1040G>T) c.1244G>T (p.Cys415Phe) c.1013G>T (p.Cys338Phe) c.1143-1056G>T (n.1143-1056G>T) c.1256G>T (p.Cys419Phe) | |
9 | g.99146599T>A | CA374233164 | TGFBR1 | c.1038T>A (p.Cys346Ter) c.1050T>A (p.Cys350Ter) c.*167T>A (n.*167T>A) c.807T>A (p.Cys269Ter) c.*1041T>A (n.*1041T>A) c.1245T>A (p.Cys415Ter) c.1014T>A (p.Cys338Ter) c.1143-1055T>A (n.1143-1055T>A) c.1257T>A (p.Cys419Ter) | |
9 | g.99146599T>C | CA466435410 | TGFBR1 | c.1038T>C (p.Cys346=) c.1050T>C (p.Cys350=) c.*167T>C (n.*167T>C) c.807T>C (p.Cys269=) c.*1041T>C (n.*1041T>C) c.1245T>C (p.Cys415=) c.1014T>C (p.Cys338=) c.1143-1055T>C (n.1143-1055T>C) c.1257T>C (p.Cys419=) | |
9 | g.99146599T>G | CA374233165 | TGFBR1 | c.1038T>G (p.Cys346Trp) c.1050T>G (p.Cys350Trp) c.*167T>G (n.*167T>G) c.807T>G (p.Cys269Trp) c.*1041T>G (n.*1041T>G) c.1245T>G (p.Cys415Trp) c.1014T>G (p.Cys338Trp) c.1143-1055T>G (n.1143-1055T>G) c.1257T>G (p.Cys419Trp) | |
9 | g.99146600T>A | CA374233167 | TGFBR1 | c.1039T>A (p.Ser347Thr) c.1051T>A (p.Ser351Thr) c.*168T>A (n.*168T>A) c.808T>A (p.Ser270Thr) c.*1042T>A (n.*1042T>A) c.1246T>A (p.Ser416Thr) c.1015T>A (p.Ser339Thr) c.1143-1054T>A (n.1143-1054T>A) c.1258T>A (p.Ser420Thr) | |
9 | g.99146600T>C | CA374233169 | TGFBR1 | c.1039T>C (p.Ser347Pro) c.1051T>C (p.Ser351Pro) c.*168T>C (n.*168T>C) c.808T>C (p.Ser270Pro) c.*1042T>C (n.*1042T>C) c.1246T>C (p.Ser416Pro) c.1015T>C (p.Ser339Pro) c.1143-1054T>C (n.1143-1054T>C) c.1258T>C (p.Ser420Pro) | |
9 | g.99146600T>G | CA374233170 | TGFBR1 | c.1039T>G (p.Ser347Ala) c.1051T>G (p.Ser351Ala) c.*168T>G (n.*168T>G) c.808T>G (p.Ser270Ala) c.*1042T>G (n.*1042T>G) c.1246T>G (p.Ser416Ala) c.1015T>G (p.Ser339Ala) c.1143-1054T>G (n.1143-1054T>G) c.1258T>G (p.Ser420Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.99146600T= | CA1867263977 | TGFBR1 | c.1039T= (p.Ser347=) c.1051T= (p.Ser351=) c.*168T= (n.*168T=) c.808T= (p.Ser270=) c.*1042T= (n.*1042T=) c.1246T= (p.Ser416=) c.1015T= (p.Ser339=) c.1143-1054T= (n.1143-1054T=) c.1258T= (p.Ser420=) | |
9 | g.99146601C>A | CA374233173 | TGFBR1 | c.1040C>A (p.Ser347Tyr) c.1052C>A (p.Ser351Tyr) c.*169C>A (n.*169C>A) c.809C>A (p.Ser270Tyr) c.*1043C>A (n.*1043C>A) c.1247C>A (p.Ser416Tyr) c.1016C>A (p.Ser339Tyr) c.1143-1053C>A (n.1143-1053C>A) c.1259C>A (p.Ser420Tyr) | |
9 | g.99146601C= | CA1867263980 | TGFBR1 | c.1040C= (p.Ser347=) c.1052C= (p.Ser351=) c.*169C= (n.*169C=) c.809C= (p.Ser270=) c.*1043C= (n.*1043C=) c.1247C= (p.Ser416=) c.1016C= (p.Ser339=) c.1143-1053C= (n.1143-1053C=) c.1259C= (p.Ser420=) | |
9 | g.99146601C>G | CA374233175 | TGFBR1 | c.1040C>G (p.Ser347Cys) c.1052C>G (p.Ser351Cys) c.*169C>G (n.*169C>G) c.809C>G (p.Ser270Cys) c.*1043C>G (n.*1043C>G) c.1247C>G (p.Ser416Cys) c.1016C>G (p.Ser339Cys) c.1143-1053C>G (n.1143-1053C>G) c.1259C>G (p.Ser420Cys) | dbSNP |
9 | g.99146601C>T | CA374233177 | TGFBR1 | c.1040C>T (p.Ser347Phe) c.1052C>T (p.Ser351Phe) c.*169C>T (n.*169C>T) c.809C>T (p.Ser270Phe) c.*1043C>T (n.*1043C>T) c.1247C>T (p.Ser416Phe) c.1016C>T (p.Ser339Phe) c.1143-1053C>T (n.1143-1053C>T) c.1259C>T (p.Ser420Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.99146602C>A | CA466435414 | TGFBR1 | c.1041C>A (p.Ser347=) c.1053C>A (p.Ser351=) c.*170C>A (n.*170C>A) c.810C>A (p.Ser270=) c.*1044C>A (n.*1044C>A) c.1248C>A (p.Ser416=) c.1017C>A (p.Ser339=) c.1143-1052C>A (n.1143-1052C>A) c.1260C>A (p.Ser420=) | |
9 | g.99146602C>G | CA466435415 | TGFBR1 | c.1041C>G (p.Ser347=) c.1053C>G (p.Ser351=) c.*170C>G (n.*170C>G) c.810C>G (p.Ser270=) c.*1044C>G (n.*1044C>G) c.1248C>G (p.Ser416=) c.1017C>G (p.Ser339=) c.1143-1052C>G (n.1143-1052C>G) c.1260C>G (p.Ser420=) | |
9 | g.99146602C>T | CA466435416 | TGFBR1 | c.1041C>T (p.Ser347=) c.1053C>T (p.Ser351=) c.*170C>T (n.*170C>T) c.810C>T (p.Ser270=) c.*1044C>T (n.*1044C>T) c.1248C>T (p.Ser416=) c.1017C>T (p.Ser339=) c.1143-1052C>T (n.1143-1052C>T) c.1260C>T (p.Ser420=) | |
9 | g.99146603A= | CA1867263988 | TGFBR1 | c.1042A= (p.Ile348=) c.1054A= (p.Ile352=) c.*171A= (n.*171A=) c.811A= (p.Ile271=) c.*1045A= (n.*1045A=) c.1249A= (p.Ile417=) c.1018A= (p.Ile340=) c.1143-1051A= (n.1143-1051A=) c.1261A= (p.Ile421=) | |
9 | g.99146603A>C | CA374233180 | TGFBR1 | c.1042A>C (p.Ile348Leu) c.1054A>C (p.Ile352Leu) c.*171A>C (n.*171A>C) c.811A>C (p.Ile271Leu) c.*1045A>C (n.*1045A>C) c.1249A>C (p.Ile417Leu) c.1018A>C (p.Ile340Leu) c.1143-1051A>C (n.1143-1051A>C) c.1261A>C (p.Ile421Leu) | |
9 | g.99146603A>G | CA040011 | TGFBR1 | c.1042A>G (p.Ile348Val) c.1054A>G (p.Ile352Val) c.*171A>G (n.*171A>G) c.811A>G (p.Ile271Val) c.*1045A>G (n.*1045A>G) c.1249A>G (p.Ile417Val) c.1018A>G (p.Ile340Val) c.1143-1051A>G (n.1143-1051A>G) c.1261A>G (p.Ile421Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146603A>T | CA374233183 | TGFBR1 | c.1042A>T (p.Ile348Phe) c.1054A>T (p.Ile352Phe) c.*171A>T (n.*171A>T) c.811A>T (p.Ile271Phe) c.*1045A>T (n.*1045A>T) c.1249A>T (p.Ile417Phe) c.1018A>T (p.Ile340Phe) c.1143-1051A>T (n.1143-1051A>T) c.1261A>T (p.Ile421Phe) | ClinVar gnomAD v4 |
9 | g.99146604T>A | CA374233185 | TGFBR1 | c.1043T>A (p.Ile348Asn) c.1055T>A (p.Ile352Asn) c.*172T>A (n.*172T>A) c.812T>A (p.Ile271Asn) c.*1046T>A (n.*1046T>A) c.1250T>A (p.Ile417Asn) c.1019T>A (p.Ile340Asn) c.1143-1050T>A (n.1143-1050T>A) c.1262T>A (p.Ile421Asn) | |
9 | g.99146604T>C | CA374233187 | TGFBR1 | c.1043T>C (p.Ile348Thr) c.1055T>C (p.Ile352Thr) c.*172T>C (n.*172T>C) c.812T>C (p.Ile271Thr) c.*1046T>C (n.*1046T>C) c.1250T>C (p.Ile417Thr) c.1019T>C (p.Ile340Thr) c.1143-1050T>C (n.1143-1050T>C) c.1262T>C (p.Ile421Thr) | ClinVar gnomAD v4 |
9 | g.99146604T>G | CA374233188 | TGFBR1 | c.1043T>G (p.Ile348Ser) c.1055T>G (p.Ile352Ser) c.*172T>G (n.*172T>G) c.812T>G (p.Ile271Ser) c.*1046T>G (n.*1046T>G) c.1250T>G (p.Ile417Ser) c.1019T>G (p.Ile340Ser) c.1143-1050T>G (n.1143-1050T>G) c.1262T>G (p.Ile421Ser) | |
9 | g.99146605T>A | CA466435418 | TGFBR1 | c.1044T>A (p.Ile348=) c.1056T>A (p.Ile352=) c.*173T>A (n.*173T>A) c.813T>A (p.Ile271=) c.*1047T>A (n.*1047T>A) c.1251T>A (p.Ile417=) c.1020T>A (p.Ile340=) c.1143-1049T>A (n.1143-1049T>A) c.1263T>A (p.Ile421=) | |
9 | g.99146605T>C | CA466435419 | TGFBR1 | c.1044T>C (p.Ile348=) c.1056T>C (p.Ile352=) c.*173T>C (n.*173T>C) c.813T>C (p.Ile271=) c.*1047T>C (n.*1047T>C) c.1251T>C (p.Ile417=) c.1020T>C (p.Ile340=) c.1143-1049T>C (n.1143-1049T>C) c.1263T>C (p.Ile421=) | |
9 | g.99146605T>G | CA374233190 | TGFBR1 | c.1044T>G (p.Ile348Met) c.1056T>G (p.Ile352Met) c.*173T>G (n.*173T>G) c.813T>G (p.Ile271Met) c.*1047T>G (n.*1047T>G) c.1251T>G (p.Ile417Met) c.1020T>G (p.Ile340Met) c.1143-1049T>G (n.1143-1049T>G) c.1263T>G (p.Ile421Met) | |
9 | g.99146606G>A | CA374233194 | TGFBR1 | c.1045G>A (p.Gly349Ser) c.1057G>A (p.Gly353Ser) c.*174G>A (n.*174G>A) c.814G>A (p.Gly272Ser) c.*1048G>A (n.*1048G>A) c.1252G>A (p.Gly418Ser) c.1021G>A (p.Gly341Ser) c.1143-1048G>A (n.1143-1048G>A) c.1264G>A (p.Gly422Ser) | |
9 | g.99146606G>C | CA374233192 | TGFBR1 | c.1045G>C (p.Gly349Arg) c.1057G>C (p.Gly353Arg) c.*174G>C (n.*174G>C) c.814G>C (p.Gly272Arg) c.*1048G>C (n.*1048G>C) c.1252G>C (p.Gly418Arg) c.1021G>C (p.Gly341Arg) c.1143-1048G>C (n.1143-1048G>C) c.1264G>C (p.Gly422Arg) | |
9 | g.99146606G>T | CA374233193 | TGFBR1 | c.1045G>T (p.Gly349Cys) c.1057G>T (p.Gly353Cys) c.*174G>T (n.*174G>T) c.814G>T (p.Gly272Cys) c.*1048G>T (n.*1048G>T) c.1252G>T (p.Gly418Cys) c.1021G>T (p.Gly341Cys) c.1143-1048G>T (n.1143-1048G>T) c.1264G>T (p.Gly422Cys) | |
9 | g.99146607G>A | CA374233196 | TGFBR1 | c.1046G>A (p.Gly349Asp) c.1058G>A (p.Gly353Asp) c.*175G>A (n.*175G>A) c.815G>A (p.Gly272Asp) c.*1049G>A (n.*1049G>A) c.1253G>A (p.Gly418Asp) c.1022G>A (p.Gly341Asp) c.1143-1047G>A (n.1143-1047G>A) c.1265G>A (p.Gly422Asp) | gnomAD v4 |
9 | g.99146607G>C | CA374233197 | TGFBR1 | c.1046G>C (p.Gly349Ala) c.1058G>C (p.Gly353Ala) c.*175G>C (n.*175G>C) c.815G>C (p.Gly272Ala) c.*1049G>C (n.*1049G>C) c.1253G>C (p.Gly418Ala) c.1022G>C (p.Gly341Ala) c.1143-1047G>C (n.1143-1047G>C) c.1265G>C (p.Gly422Ala) | ClinVar |
9 | g.99146607G>T | CA374233198 | TGFBR1 | c.1046G>T (p.Gly349Val) c.1058G>T (p.Gly353Val) c.*175G>T (n.*175G>T) c.815G>T (p.Gly272Val) c.*1049G>T (n.*1049G>T) c.1253G>T (p.Gly418Val) c.1022G>T (p.Gly341Val) c.1143-1047G>T (n.1143-1047G>T) c.1265G>T (p.Gly422Val) | |
9 | g.99146608T>A | CA466435422 | TGFBR1 | c.1047T>A (p.Gly349=) c.1059T>A (p.Gly353=) c.*176T>A (n.*176T>A) c.816T>A (p.Gly272=) c.*1050T>A (n.*1050T>A) c.1254T>A (p.Gly418=) c.1023T>A (p.Gly341=) c.1143-1046T>A (n.1143-1046T>A) c.1266T>A (p.Gly422=) | |
9 | g.99146608T>C | CA466435423 | TGFBR1 | c.1047T>C (p.Gly349=) c.1059T>C (p.Gly353=) c.*176T>C (n.*176T>C) c.816T>C (p.Gly272=) c.*1050T>C (n.*1050T>C) c.1254T>C (p.Gly418=) c.1023T>C (p.Gly341=) c.1143-1046T>C (n.1143-1046T>C) c.1266T>C (p.Gly422=) | |
9 | g.99146608T>G | CA466435424 | TGFBR1 | c.1047T>G (p.Gly349=) c.1059T>G (p.Gly353=) c.*176T>G (n.*176T>G) c.816T>G (p.Gly272=) c.*1050T>G (n.*1050T>G) c.1254T>G (p.Gly418=) c.1023T>G (p.Gly341=) c.1143-1046T>G (n.1143-1046T>G) c.1266T>G (p.Gly422=) | |
9 | g.99146609G>A | CA320733 | TGFBR1 | c.1048G>A (p.Gly350Arg) c.1060G>A (p.Gly354Arg) c.*177G>A (n.*177G>A) c.817G>A (p.Gly273Arg) c.*1051G>A (n.*1051G>A) c.1255G>A (p.Gly419Arg) c.1024G>A (p.Gly342Arg) c.1143-1045G>A (n.1143-1045G>A) c.1267G>A (p.Gly423Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.99146609G>C | CA374233200 | TGFBR1 | c.1048G>C (p.Gly350Arg) c.1060G>C (p.Gly354Arg) c.*177G>C (n.*177G>C) c.817G>C (p.Gly273Arg) c.*1051G>C (n.*1051G>C) c.1255G>C (p.Gly419Arg) c.1024G>C (p.Gly342Arg) c.1143-1045G>C (n.1143-1045G>C) c.1267G>C (p.Gly423Arg) | |
9 | g.99146609G= | CA1867263993 | TGFBR1 | c.1048G= (p.Gly350=) c.1060G= (p.Gly354=) c.*177G= (n.*177G=) c.817G= (p.Gly273=) c.*1051G= (n.*1051G=) c.1255G= (p.Gly419=) c.1024G= (p.Gly342=) c.1143-1045G= (n.1143-1045G=) c.1267G= (p.Gly423=) | |
9 | g.99146609G>T | CA374233201 | TGFBR1 | c.1048G>T (p.Gly350Ter) c.1060G>T (p.Gly354Ter) c.*177G>T (n.*177G>T) c.817G>T (p.Gly273Ter) c.*1051G>T (n.*1051G>T) c.1255G>T (p.Gly419Ter) c.1024G>T (p.Gly342Ter) c.1143-1045G>T (n.1143-1045G>T) c.1267G>T (p.Gly423Ter) | |
9 | g.99146610G>A | CA374233203 | TGFBR1 | c.1048+1G>A (n.1048+1G>A) c.1060+1G>A (n.1060+1G>A) c.*177+1G>A (n.*177+1G>A) c.817+1G>A (n.817+1G>A) c.*1051+1G>A (n.*1051+1G>A) c.1255+1G>A (n.1255+1G>A) c.1024+1G>A (n.1024+1G>A) c.1143-1044G>A (n.1143-1044G>A) c.1267+1G>A (n.1267+1G>A) | ClinVar dbSNP gnomAD v4 |
9 | g.99146610G>C | CA374233205 | TGFBR1 | c.1048+1G>C (n.1048+1G>C) c.1060+1G>C (n.1060+1G>C) c.*177+1G>C (n.*177+1G>C) c.817+1G>C (n.817+1G>C) c.*1051+1G>C (n.*1051+1G>C) c.1255+1G>C (n.1255+1G>C) c.1024+1G>C (n.1024+1G>C) c.1143-1044G>C (n.1143-1044G>C) c.1267+1G>C (n.1267+1G>C) | |
9 | g.99146610G= | CA1867263999 | TGFBR1 | c.1048+1G= (n.1048+1G=) c.1060+1G= (n.1060+1G=) c.*177+1G= (n.*177+1G=) c.817+1G= (n.817+1G=) c.*1051+1G= (n.*1051+1G=) c.1255+1G= (n.1255+1G=) c.1024+1G= (n.1024+1G=) c.1143-1044G= (n.1143-1044G=) c.1267+1G= (n.1267+1G=) | |
9 | g.99146610G>T | CA374233206 | TGFBR1 | c.1048+1G>T (n.1048+1G>T) c.1060+1G>T (n.1060+1G>T) c.*177+1G>T (n.*177+1G>T) c.817+1G>T (n.817+1G>T) c.*1051+1G>T (n.*1051+1G>T) c.1255+1G>T (n.1255+1G>T) c.1024+1G>T (n.1024+1G>T) c.1143-1044G>T (n.1143-1044G>T) c.1267+1G>T (n.1267+1G>T) | COSMIC |
9 | g.99146611T>A | CA374233208 | TGFBR1 | c.1048+2T>A (n.1048+2T>A) c.1060+2T>A (n.1060+2T>A) c.*177+2T>A (n.*177+2T>A) c.817+2T>A (n.817+2T>A) c.*1051+2T>A (n.*1051+2T>A) c.1255+2T>A (n.1255+2T>A) c.1024+2T>A (n.1024+2T>A) c.1143-1043T>A (n.1143-1043T>A) c.1267+2T>A (n.1267+2T>A) | |
9 | g.99146611T>C | CA374233209 | TGFBR1 | c.1048+2T>C (n.1048+2T>C) c.1060+2T>C (n.1060+2T>C) c.*177+2T>C (n.*177+2T>C) c.817+2T>C (n.817+2T>C) c.*1051+2T>C (n.*1051+2T>C) c.1255+2T>C (n.1255+2T>C) c.1024+2T>C (n.1024+2T>C) c.1143-1043T>C (n.1143-1043T>C) c.1267+2T>C (n.1267+2T>C) | |
9 | g.99146611T>G | CA374233210 | TGFBR1 | c.1048+2T>G (n.1048+2T>G) c.1060+2T>G (n.1060+2T>G) c.*177+2T>G (n.*177+2T>G) c.817+2T>G (n.817+2T>G) c.*1051+2T>G (n.*1051+2T>G) c.1255+2T>G (n.1255+2T>G) c.1024+2T>G (n.1024+2T>G) c.1143-1043T>G (n.1143-1043T>G) c.1267+2T>G (n.1267+2T>G) | gnomAD v4 |
9 | g.99146612A>G | CA2690966510 | TGFBR1 | c.1048+3A>G (n.1048+3A>G) c.1060+3A>G (n.1060+3A>G) c.*177+3A>G (n.*177+3A>G) c.817+3A>G (n.817+3A>G) c.*1051+3A>G (n.*1051+3A>G) c.1255+3A>G (n.1255+3A>G) c.1024+3A>G (n.1024+3A>G) c.1143-1042A>G (n.1143-1042A>G) c.1267+3A>G (n.1267+3A>G) | gnomAD v4 |
9 | g.99146614A= | CA1867264003 | TGFBR1 | c.1048+5A= (n.1048+5A=) c.1060+5A= (n.1060+5A=) c.*177+5A= (n.*177+5A=) c.817+5A= (n.817+5A=) c.*1051+5A= (n.*1051+5A=) c.1255+5A= (n.1255+5A=) c.1024+5A= (n.1024+5A=) c.1143-1040A= (n.1143-1040A=) c.1267+5A= (n.1267+5A=) | |
9 | g.99146614A>G | CA040177 | TGFBR1 | c.1048+5A>G (n.1048+5A>G) c.1060+5A>G (n.1060+5A>G) c.*177+5A>G (n.*177+5A>G) c.817+5A>G (n.817+5A>G) c.*1051+5A>G (n.*1051+5A>G) c.1255+5A>G (n.1255+5A>G) c.1024+5A>G (n.1024+5A>G) c.1143-1040A>G (n.1143-1040A>G) c.1267+5A>G (n.1267+5A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146615T>C | CA2690966511 | TGFBR1 | c.1048+6T>C (n.1048+6T>C) c.1060+6T>C (n.1060+6T>C) c.*177+6T>C (n.*177+6T>C) c.817+6T>C (n.817+6T>C) c.*1051+6T>C (n.*1051+6T>C) c.1255+6T>C (n.1255+6T>C) c.1024+6T>C (n.1024+6T>C) c.1143-1039T>C (n.1143-1039T>C) c.1267+6T>C (n.1267+6T>C) | gnomAD v4 |
9 | g.99146616del | CA2825001660 | TGFBR1 | c.1048+7del (n.1048+7del) c.1060+7del (n.1060+7del) c.*177+7del (n.*177+7del) c.817+7del (n.817+7del) c.*1051+7del (n.*1051+7del) c.1255+7del (n.1255+7del) c.1024+7del (n.1024+7del) c.1143-1038del (n.1143-1038del) c.1267+7del (n.1267+7del) | ClinVar |
9 | g.99146617G>A | CA2720314643 | TGFBR1 | c.1048+8G>A (n.1048+8G>A) c.1060+8G>A (n.1060+8G>A) c.*177+8G>A (n.*177+8G>A) c.817+8G>A (n.817+8G>A) c.*1051+8G>A (n.*1051+8G>A) c.1255+8G>A (n.1255+8G>A) c.1024+8G>A (n.1024+8G>A) c.1143-1037G>A (n.1143-1037G>A) c.1267+8G>A (n.1267+8G>A) | dbSNP |
9 | g.99146617G>T | CA2690966512 | TGFBR1 | c.1048+8G>T (n.1048+8G>T) c.1060+8G>T (n.1060+8G>T) c.*177+8G>T (n.*177+8G>T) c.817+8G>T (n.817+8G>T) c.*1051+8G>T (n.*1051+8G>T) c.1255+8G>T (n.1255+8G>T) c.1024+8G>T (n.1024+8G>T) c.1143-1037G>T (n.1143-1037G>T) c.1267+8G>T (n.1267+8G>T) | gnomAD v4 |
9 | g.99146618C= | CA1867264007 | TGFBR1 | c.1048+9C= (n.1048+9C=) c.1060+9C= (n.1060+9C=) c.*177+9C= (n.*177+9C=) c.817+9C= (n.817+9C=) c.*1051+9C= (n.*1051+9C=) c.1255+9C= (n.1255+9C=) c.1024+9C= (n.1024+9C=) c.1143-1036C= (n.1143-1036C=) c.1267+9C= (n.1267+9C=) | |
9 | g.99146618C>T | CA040184 | TGFBR1 | c.1048+9C>T (n.1048+9C>T) c.1060+9C>T (n.1060+9C>T) c.*177+9C>T (n.*177+9C>T) c.817+9C>T (n.817+9C>T) c.*1051+9C>T (n.*1051+9C>T) c.1255+9C>T (n.1255+9C>T) c.1024+9C>T (n.1024+9C>T) c.1143-1036C>T (n.1143-1036C>T) c.1267+9C>T (n.1267+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146619T>A | CA869141726 | TGFBR1 | c.1048+10T>A (n.1048+10T>A) c.1060+10T>A (n.1060+10T>A) c.*177+10T>A (n.*177+10T>A) c.817+10T>A (n.817+10T>A) c.*1051+10T>A (n.*1051+10T>A) c.1255+10T>A (n.1255+10T>A) c.1024+10T>A (n.1024+10T>A) c.1143-1035T>A (n.1143-1035T>A) c.1267+10T>A (n.1267+10T>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.99146619T= | CA1867264009 | TGFBR1 | c.1048+10T= (n.1048+10T=) c.1060+10T= (n.1060+10T=) c.*177+10T= (n.*177+10T=) c.817+10T= (n.817+10T=) c.*1051+10T= (n.*1051+10T=) c.1255+10T= (n.1255+10T=) c.1024+10T= (n.1024+10T=) c.1143-1035T= (n.1143-1035T=) c.1267+10T= (n.1267+10T=) | |
9 | g.99146620C= | CA1867264011 | TGFBR1 | c.1048+11C= (n.1048+11C=) c.1060+11C= (n.1060+11C=) c.*177+11C= (n.*177+11C=) c.817+11C= (n.817+11C=) c.*1051+11C= (n.*1051+11C=) c.1255+11C= (n.1255+11C=) c.1024+11C= (n.1024+11C=) c.1143-1034C= (n.1143-1034C=) c.1267+11C= (n.1267+11C=) | |
9 | g.99146620C>G | CA040021 | TGFBR1 | c.1048+11C>G (n.1048+11C>G) c.1060+11C>G (n.1060+11C>G) c.*177+11C>G (n.*177+11C>G) c.817+11C>G (n.817+11C>G) c.*1051+11C>G (n.*1051+11C>G) c.1255+11C>G (n.1255+11C>G) c.1024+11C>G (n.1024+11C>G) c.1143-1034C>G (n.1143-1034C>G) c.1267+11C>G (n.1267+11C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146621T>C | CA1867264013 | TGFBR1 | c.1048+12T>C (n.1048+12T>C) c.1060+12T>C (n.1060+12T>C) c.*177+12T>C (n.*177+12T>C) c.817+12T>C (n.817+12T>C) c.*1051+12T>C (n.*1051+12T>C) c.1255+12T>C (n.1255+12T>C) c.1024+12T>C (n.1024+12T>C) c.1143-1033T>C (n.1143-1033T>C) c.1267+12T>C (n.1267+12T>C) | dbSNP gnomAD v4 |
9 | g.99146621T= | CA1867264012 | TGFBR1 | c.1048+12T= (n.1048+12T=) c.1060+12T= (n.1060+12T=) c.*177+12T= (n.*177+12T=) c.817+12T= (n.817+12T=) c.*1051+12T= (n.*1051+12T=) c.1255+12T= (n.1255+12T=) c.1024+12T= (n.1024+12T=) c.1143-1033T= (n.1143-1033T=) c.1267+12T= (n.1267+12T=) | |
9 | g.99146622C>T | CA2690966513 | TGFBR1 | c.1048+13C>T (n.1048+13C>T) c.1060+13C>T (n.1060+13C>T) c.*177+13C>T (n.*177+13C>T) c.817+13C>T (n.817+13C>T) c.*1051+13C>T (n.*1051+13C>T) c.1255+13C>T (n.1255+13C>T) c.1024+13C>T (n.1024+13C>T) c.1143-1032C>T (n.1143-1032C>T) c.1267+13C>T (n.1267+13C>T) | gnomAD v4 |
9 | g.99146623C>A | CA2720153259 | TGFBR1 | c.1048+14C>A (n.1048+14C>A) c.1060+14C>A (n.1060+14C>A) c.*177+14C>A (n.*177+14C>A) c.817+14C>A (n.817+14C>A) c.*1051+14C>A (n.*1051+14C>A) c.1255+14C>A (n.1255+14C>A) c.1024+14C>A (n.1024+14C>A) c.1143-1031C>A (n.1143-1031C>A) c.1267+14C>A (n.1267+14C>A) | dbSNP |
9 | g.99146623C= | CA1867264015 | TGFBR1 | c.1048+14C= (n.1048+14C=) c.1060+14C= (n.1060+14C=) c.*177+14C= (n.*177+14C=) c.817+14C= (n.817+14C=) c.*1051+14C= (n.*1051+14C=) c.1255+14C= (n.1255+14C=) c.1024+14C= (n.1024+14C=) c.1143-1031C= (n.1143-1031C=) c.1267+14C= (n.1267+14C=) | |
9 | g.99146623C>G | CA1867264016 | TGFBR1 | c.1048+14C>G (n.1048+14C>G) c.1060+14C>G (n.1060+14C>G) c.*177+14C>G (n.*177+14C>G) c.817+14C>G (n.817+14C>G) c.*1051+14C>G (n.*1051+14C>G) c.1255+14C>G (n.1255+14C>G) c.1024+14C>G (n.1024+14C>G) c.1143-1031C>G (n.1143-1031C>G) c.1267+14C>G (n.1267+14C>G) | dbSNP gnomAD v4 |
9 | g.99146623C>T | CA2690966514 | TGFBR1 | c.1048+14C>T (n.1048+14C>T) c.1060+14C>T (n.1060+14C>T) c.*177+14C>T (n.*177+14C>T) c.817+14C>T (n.817+14C>T) c.*1051+14C>T (n.*1051+14C>T) c.1255+14C>T (n.1255+14C>T) c.1024+14C>T (n.1024+14C>T) c.1143-1031C>T (n.1143-1031C>T) c.1267+14C>T (n.1267+14C>T) | gnomAD v4 |
9 | g.99146624T>C | CA040029 | TGFBR1 | c.1048+15T>C (n.1048+15T>C) c.1060+15T>C (n.1060+15T>C) c.*177+15T>C (n.*177+15T>C) c.817+15T>C (n.817+15T>C) c.*1051+15T>C (n.*1051+15T>C) c.1255+15T>C (n.1255+15T>C) c.1024+15T>C (n.1024+15T>C) c.1143-1030T>C (n.1143-1030T>C) c.1267+15T>C (n.1267+15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146624T= | CA1867264017 | TGFBR1 | c.1048+15T= (n.1048+15T=) c.1060+15T= (n.1060+15T=) c.*177+15T= (n.*177+15T=) c.817+15T= (n.817+15T=) c.*1051+15T= (n.*1051+15T=) c.1255+15T= (n.1255+15T=) c.1024+15T= (n.1024+15T=) c.1143-1030T= (n.1143-1030T=) c.1267+15T= (n.1267+15T=) | |
9 | g.99146625C>A | CA2554344049 | TGFBR1 | c.1048+16C>A (n.1048+16C>A) c.1060+16C>A (n.1060+16C>A) c.*177+16C>A (n.*177+16C>A) c.817+16C>A (n.817+16C>A) c.*1051+16C>A (n.*1051+16C>A) c.1255+16C>A (n.1255+16C>A) c.1024+16C>A (n.1024+16C>A) c.1143-1029C>A (n.1143-1029C>A) c.1267+16C>A (n.1267+16C>A) | |
9 | g.99146625C= | CA1867264020 | TGFBR1 | c.1048+16C= (n.1048+16C=) c.1060+16C= (n.1060+16C=) c.*177+16C= (n.*177+16C=) c.817+16C= (n.817+16C=) c.*1051+16C= (n.*1051+16C=) c.1255+16C= (n.1255+16C=) c.1024+16C= (n.1024+16C=) c.1143-1029C= (n.1143-1029C=) c.1267+16C= (n.1267+16C=) | |
9 | g.99146625C>G | CA040038 | TGFBR1 | c.1048+16C>G (n.1048+16C>G) c.1060+16C>G (n.1060+16C>G) c.*177+16C>G (n.*177+16C>G) c.817+16C>G (n.817+16C>G) c.*1051+16C>G (n.*1051+16C>G) c.1255+16C>G (n.1255+16C>G) c.1024+16C>G (n.1024+16C>G) c.1143-1029C>G (n.1143-1029C>G) c.1267+16C>G (n.1267+16C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146625C>T | CA040046 | TGFBR1 | c.1048+16C>T (n.1048+16C>T) c.1060+16C>T (n.1060+16C>T) c.*177+16C>T (n.*177+16C>T) c.817+16C>T (n.817+16C>T) c.*1051+16C>T (n.*1051+16C>T) c.1255+16C>T (n.1255+16C>T) c.1024+16C>T (n.1024+16C>T) c.1143-1029C>T (n.1143-1029C>T) c.1267+16C>T (n.1267+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146626T>A | CA869141734 | TGFBR1 | c.1048+17T>A (n.1048+17T>A) c.1060+17T>A (n.1060+17T>A) c.*177+17T>A (n.*177+17T>A) c.817+17T>A (n.817+17T>A) c.*1051+17T>A (n.*1051+17T>A) c.1255+17T>A (n.1255+17T>A) c.1024+17T>A (n.1024+17T>A) c.1143-1028T>A (n.1143-1028T>A) c.1267+17T>A (n.1267+17T>A) | dbSNP |
9 | g.99146626T= | CA1867264024 | TGFBR1 | c.1048+17T= (n.1048+17T=) c.1060+17T= (n.1060+17T=) c.*177+17T= (n.*177+17T=) c.817+17T= (n.817+17T=) c.*1051+17T= (n.*1051+17T=) c.1255+17T= (n.1255+17T=) c.1024+17T= (n.1024+17T=) c.1143-1028T= (n.1143-1028T=) c.1267+17T= (n.1267+17T=) | |
9 | g.99146627C= | CA1867264028 | TGFBR1 | c.1048+18C= (n.1048+18C=) c.1060+18C= (n.1060+18C=) c.*177+18C= (n.*177+18C=) c.817+18C= (n.817+18C=) c.*1051+18C= (n.*1051+18C=) c.1255+18C= (n.1255+18C=) c.1024+18C= (n.1024+18C=) c.1143-1027C= (n.1143-1027C=) c.1267+18C= (n.1267+18C=) | |
9 | g.99146627C>G | CA1867264030 | TGFBR1 | c.1048+18C>G (n.1048+18C>G) c.1060+18C>G (n.1060+18C>G) c.*177+18C>G (n.*177+18C>G) c.817+18C>G (n.817+18C>G) c.*1051+18C>G (n.*1051+18C>G) c.1255+18C>G (n.1255+18C>G) c.1024+18C>G (n.1024+18C>G) c.1143-1027C>G (n.1143-1027C>G) c.1267+18C>G (n.1267+18C>G) | dbSNP |
9 | g.99146627C>T | CA2720153270 | TGFBR1 | c.1048+18C>T (n.1048+18C>T) c.1060+18C>T (n.1060+18C>T) c.*177+18C>T (n.*177+18C>T) c.817+18C>T (n.817+18C>T) c.*1051+18C>T (n.*1051+18C>T) c.1255+18C>T (n.1255+18C>T) c.1024+18C>T (n.1024+18C>T) c.1143-1027C>T (n.1143-1027C>T) c.1267+18C>T (n.1267+18C>T) | dbSNP |
9 | g.99146631dup | CA589362139 | TGFBR1 | c.1048+22dup (n.1048+22dup) c.1060+22dup (n.1060+22dup) c.*177+22dup (n.*177+22dup) c.817+22dup (n.817+22dup) c.*1051+22dup (n.*1051+22dup) c.1255+22dup (n.1255+22dup) c.1024+22dup (n.1024+22dup) c.1143-1023dup (n.1143-1023dup) c.1267+22dup (n.1267+22dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146628C>A | CA2720314843 | TGFBR1 | c.1048+19C>A (n.1048+19C>A) c.1060+19C>A (n.1060+19C>A) c.*177+19C>A (n.*177+19C>A) c.817+19C>A (n.817+19C>A) c.*1051+19C>A (n.*1051+19C>A) c.1255+19C>A (n.1255+19C>A) c.1024+19C>A (n.1024+19C>A) c.1143-1026C>A (n.1143-1026C>A) c.1267+19C>A (n.1267+19C>A) | dbSNP |
9 | g.99146628C>T | CA2690966515 | TGFBR1 | c.1048+19C>T (n.1048+19C>T) c.1060+19C>T (n.1060+19C>T) c.*177+19C>T (n.*177+19C>T) c.817+19C>T (n.817+19C>T) c.*1051+19C>T (n.*1051+19C>T) c.1255+19C>T (n.1255+19C>T) c.1024+19C>T (n.1024+19C>T) c.1143-1026C>T (n.1143-1026C>T) c.1267+19C>T (n.1267+19C>T) | ClinVar gnomAD v4 |
9 | g.99146629C= | CA1867264032 | TGFBR1 | c.1048+20C= (n.1048+20C=) c.1060+20C= (n.1060+20C=) c.*177+20C= (n.*177+20C=) c.817+20C= (n.817+20C=) c.*1051+20C= (n.*1051+20C=) c.1255+20C= (n.1255+20C=) c.1024+20C= (n.1024+20C=) c.1143-1025C= (n.1143-1025C=) c.1267+20C= (n.1267+20C=) | |
9 | g.99146629C>T | CA589362140 | TGFBR1 | c.1048+20C>T (n.1048+20C>T) c.1060+20C>T (n.1060+20C>T) c.*177+20C>T (n.*177+20C>T) c.817+20C>T (n.817+20C>T) c.*1051+20C>T (n.*1051+20C>T) c.1255+20C>T (n.1255+20C>T) c.1024+20C>T (n.1024+20C>T) c.1143-1025C>T (n.1143-1025C>T) c.1267+20C>T (n.1267+20C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146630C>T | CA2690966517 | TGFBR1 | c.1048+21C>T (n.1048+21C>T) c.1060+21C>T (n.1060+21C>T) c.*177+21C>T (n.*177+21C>T) c.817+21C>T (n.817+21C>T) c.*1051+21C>T (n.*1051+21C>T) c.1255+21C>T (n.1255+21C>T) c.1024+21C>T (n.1024+21C>T) c.1143-1024C>T (n.1143-1024C>T) c.1267+21C>T (n.1267+21C>T) | dbSNP gnomAD v4 |
9 | g.99146630_99146633del | CA2690966516 | TGFBR1 | c.1048+21_1048+24del (n.1048+21_1048+24del) c.1060+21_1060+24del (n.1060+21_1060+24del) c.*177+21_*177+24del (n.*177+21_*177+24del) c.817+21_817+24del (n.817+21_817+24del) c.*1051+21_*1051+24del (n.*1051+21_*1051+24del) c.1255+21_1255+24del (n.1255+21_1255+24del) c.1024+21_1024+24del (n.1024+21_1024+24del) c.1143-1024_1143-1021del (n.1143-1024_1143-1021del) c.1267+21_1267+24del (n.1267+21_1267+24del) | gnomAD v4 |
9 | g.99146631C>T | CA2690966518 | TGFBR1 | c.1048+22C>T (n.1048+22C>T) c.1060+22C>T (n.1060+22C>T) c.*177+22C>T (n.*177+22C>T) c.817+22C>T (n.817+22C>T) c.*1051+22C>T (n.*1051+22C>T) c.1255+22C>T (n.1255+22C>T) c.1024+22C>T (n.1024+22C>T) c.1143-1023C>T (n.1143-1023C>T) c.1267+22C>T (n.1267+22C>T) | gnomAD v4 |