Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.30672106T>A | CA351808179 | TGFBR2 | c.923T>A (p.Leu308Gln) n.2519T>A c.998T>A (p.Leu333Gln) c.950T>A (p.Leu317Gln) c.875T>A (p.Leu292Gln) c.818T>A (p.Leu273Gln) | |
3 | g.30672106T>C | CA020791 | TGFBR2 | c.923T>C (p.Leu308Pro) n.2519T>C c.998T>C (p.Leu333Pro) c.950T>C (p.Leu317Pro) c.875T>C (p.Leu292Pro) c.818T>C (p.Leu273Pro) | ClinVar dbSNP |
3 | g.30672106T>G | CA351808178 | TGFBR2 | c.923T>G (p.Leu308Arg) n.2519T>G c.998T>G (p.Leu333Arg) c.950T>G (p.Leu317Arg) c.875T>G (p.Leu292Arg) c.818T>G (p.Leu273Arg) | |
3 | g.30672106T= | CA1354873130 | TGFBR2 | c.923T= (p.Leu308=) n.2519T= c.998T= (p.Leu333=) c.950T= (p.Leu317=) c.875T= (p.Leu292=) c.818T= (p.Leu273=) | |
3 | g.30672107G>A | CA433058898 | TGFBR2 | c.924G>A (p.Leu308=) n.2520G>A c.999G>A (p.Leu333=) c.951G>A (p.Leu317=) c.876G>A (p.Leu292=) c.819G>A (p.Leu273=) | ClinVar dbSNP |
3 | g.30672107G>C | CA433058900 | TGFBR2 | c.924G>C (p.Leu308=) n.2520G>C c.999G>C (p.Leu333=) c.951G>C (p.Leu317=) c.876G>C (p.Leu292=) c.819G>C (p.Leu273=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672107G= | CA1354873131 | TGFBR2 | c.924G= (p.Leu308=) n.2520G= c.999G= (p.Leu333=) c.951G= (p.Leu317=) c.876G= (p.Leu292=) c.819G= (p.Leu273=) | |
3 | g.30672107G>T | CA433058901 | TGFBR2 | c.924G>T (p.Leu308=) n.2520G>T c.999G>T (p.Leu333=) c.951G>T (p.Leu317=) c.876G>T (p.Leu292=) c.819G>T (p.Leu273=) | dbSNP gnomAD v4 |
3 | g.30672108A>C | CA351808180 | TGFBR2 | c.925A>C (p.Thr309Pro) n.2521A>C c.1000A>C (p.Thr334Pro) c.952A>C (p.Thr318Pro) c.877A>C (p.Thr293Pro) c.820A>C (p.Thr274Pro) | dbSNP |
3 | g.30672108A>G | CA351808181 | TGFBR2 | c.925A>G (p.Thr309Ala) n.2521A>G c.1000A>G (p.Thr334Ala) c.952A>G (p.Thr318Ala) c.877A>G (p.Thr293Ala) c.820A>G (p.Thr274Ala) | dbSNP |
3 | g.30672108A>T | CA351808182 | TGFBR2 | c.925A>T (p.Thr309Ser) n.2521A>T c.1000A>T (p.Thr334Ser) c.952A>T (p.Thr318Ser) c.877A>T (p.Thr293Ser) c.820A>T (p.Thr274Ser) | dbSNP |
3 | g.30672109C>A | CA351808183 | TGFBR2 | c.926C>A (p.Thr309Lys) n.2522C>A c.1001C>A (p.Thr334Lys) c.953C>A (p.Thr318Lys) c.878C>A (p.Thr293Lys) c.821C>A (p.Thr274Lys) | |
3 | g.30672109C= | CA1354873132 | TGFBR2 | c.926C= (p.Thr309=) n.2522C= c.1001C= (p.Thr334=) c.953C= (p.Thr318=) c.878C= (p.Thr293=) c.821C= (p.Thr274=) | |
3 | g.30672109C>G | CA351808184 | TGFBR2 | c.926C>G (p.Thr309Arg) n.2522C>G c.1001C>G (p.Thr334Arg) c.953C>G (p.Thr318Arg) c.878C>G (p.Thr293Arg) c.821C>G (p.Thr274Arg) | dbSNP |
3 | g.30672109C>T | CA050182 | TGFBR2 | c.926C>T (p.Thr309Met) n.2522C>T c.1001C>T (p.Thr334Met) c.953C>T (p.Thr318Met) c.878C>T (p.Thr293Met) c.821C>T (p.Thr274Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672110G>A | CA050194 | TGFBR2 | c.927G>A (p.Thr309=) n.2523G>A c.1002G>A (p.Thr334=) c.954G>A (p.Thr318=) c.879G>A (p.Thr293=) c.822G>A (p.Thr274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.30672110G>C | CA050207 | TGFBR2 | c.927G>C (p.Thr309=) n.2523G>C c.1002G>C (p.Thr334=) c.954G>C (p.Thr318=) c.879G>C (p.Thr293=) c.822G>C (p.Thr274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672110G= | CA1354873133 | TGFBR2 | c.927G= (p.Thr309=) n.2523G= c.1002G= (p.Thr334=) c.954G= (p.Thr318=) c.879G= (p.Thr293=) c.822G= (p.Thr274=) | |
3 | g.30672110G>T | CA433058902 | TGFBR2 | c.927G>T (p.Thr309=) n.2523G>T c.1002G>T (p.Thr334=) c.954G>T (p.Thr318=) c.879G>T (p.Thr293=) c.822G>T (p.Thr274=) | dbSNP COSMIC COSMIC |
3 | g.30672111G>A | CA351808185 | TGFBR2 | c.928G>A (p.Ala310Thr) n.2524G>A c.1003G>A (p.Ala335Thr) c.955G>A (p.Ala319Thr) c.880G>A (p.Ala294Thr) c.823G>A (p.Ala275Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.30672111G>C | CA351808186 | TGFBR2 | c.928G>C (p.Ala310Pro) n.2524G>C c.1003G>C (p.Ala335Pro) c.955G>C (p.Ala319Pro) c.880G>C (p.Ala294Pro) c.823G>C (p.Ala275Pro) | dbSNP |
3 | g.30672111G= | CA1354873134 | TGFBR2 | c.928G= (p.Ala310=) n.2524G= c.1003G= (p.Ala335=) c.955G= (p.Ala319=) c.880G= (p.Ala294=) c.823G= (p.Ala275=) | |
3 | g.30672111G>T | CA351808187 | TGFBR2 | c.928G>T (p.Ala310Ser) n.2524G>T c.1003G>T (p.Ala335Ser) c.955G>T (p.Ala319Ser) c.880G>T (p.Ala294Ser) c.823G>T (p.Ala275Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.30672112C>A | CA351808190 | TGFBR2 | c.929C>A (p.Ala310Asp) n.2525C>A c.1004C>A (p.Ala335Asp) c.956C>A (p.Ala319Asp) c.881C>A (p.Ala294Asp) c.824C>A (p.Ala275Asp) | dbSNP |
3 | g.30672112C>G | CA351808189 | TGFBR2 | c.929C>G (p.Ala310Gly) n.2525C>G c.1004C>G (p.Ala335Gly) c.956C>G (p.Ala319Gly) c.881C>G (p.Ala294Gly) c.824C>G (p.Ala275Gly) | dbSNP gnomAD v4 |
3 | g.30672112C>T | CA351808188 | TGFBR2 | c.929C>T (p.Ala310Val) n.2525C>T c.1004C>T (p.Ala335Val) c.956C>T (p.Ala319Val) c.881C>T (p.Ala294Val) c.824C>T (p.Ala275Val) | dbSNP |
3 | g.30672113T>A | CA433058906 | TGFBR2 | c.930T>A (p.Ala310=) n.2526T>A c.1005T>A (p.Ala335=) c.957T>A (p.Ala319=) c.882T>A (p.Ala294=) c.825T>A (p.Ala275=) | dbSNP |
3 | g.30672113T>C | CA433058907 | TGFBR2 | c.930T>C (p.Ala310=) n.2526T>C c.1005T>C (p.Ala335=) c.957T>C (p.Ala319=) c.882T>C (p.Ala294=) c.825T>C (p.Ala275=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672113T>G | CA433058908 | TGFBR2 | c.930T>G (p.Ala310=) n.2526T>G c.1005T>G (p.Ala335=) c.957T>G (p.Ala319=) c.882T>G (p.Ala294=) c.825T>G (p.Ala275=) | dbSNP |
3 | g.30672113T= | CA1354873135 | TGFBR2 | c.930T= (p.Ala310=) n.2526T= c.1005T= (p.Ala335=) c.957T= (p.Ala319=) c.882T= (p.Ala294=) c.825T= (p.Ala275=) | |
3 | g.30672114G>A | CA351808191 | TGFBR2 | c.931G>A (p.Glu311Lys) n.2527G>A c.1006G>A (p.Glu336Lys) c.958G>A (p.Glu320Lys) c.883G>A (p.Glu295Lys) c.826G>A (p.Glu276Lys) | dbSNP COSMIC COSMIC |
3 | g.30672114G>C | CA351808192 | TGFBR2 | c.931G>C (p.Glu311Gln) n.2527G>C c.1006G>C (p.Glu336Gln) c.958G>C (p.Glu320Gln) c.883G>C (p.Glu295Gln) c.826G>C (p.Glu276Gln) | dbSNP |
3 | g.30672114G>T | CA351808193 | TGFBR2 | c.931G>T (p.Glu311Ter) n.2527G>T c.1006G>T (p.Glu336Ter) c.958G>T (p.Glu320Ter) c.883G>T (p.Glu295Ter) c.826G>T (p.Glu276Ter) | |
3 | g.30672115A>C | CA351808194 | TGFBR2 | c.932A>C (p.Glu311Ala) n.2528A>C c.1007A>C (p.Glu336Ala) c.959A>C (p.Glu320Ala) c.884A>C (p.Glu295Ala) c.827A>C (p.Glu276Ala) | |
3 | g.30672115A>G | CA351808195 | TGFBR2 | c.932A>G (p.Glu311Gly) n.2528A>G c.1007A>G (p.Glu336Gly) c.959A>G (p.Glu320Gly) c.884A>G (p.Glu295Gly) c.827A>G (p.Glu276Gly) | dbSNP |
3 | g.30672115A>T | CA351808196 | TGFBR2 | c.932A>T (p.Glu311Val) n.2528A>T c.1007A>T (p.Glu336Val) c.959A>T (p.Glu320Val) c.884A>T (p.Glu295Val) c.827A>T (p.Glu276Val) | dbSNP |
3 | g.30672115_30672135delinsAGGAGCGGAAGACGGAGTTGG | CA1354873136 | TGFBR2 | c.932_952delinsAGGAGCGGAAGACGGAGTTGG (p.Glu311=) n.2528_2548delinsAGGAGCGGAAGACGGAGTTGG c.1007_1027delinsAGGAGCGGAAGACGGAGTTGG (p.Glu336=) c.959_979delinsAGGAGCGGAAGACGGAGTTGG (p.Glu320=) c.884_904delinsAGGAGCGGAAGACGGAGTTGG (p.Glu295=) c.827_847delinsAGGAGCGGAAGACGGAGTTGG (p.Glu276=) | |
3 | g.30672116G>A | CA050230 | TGFBR2 | c.933G>A (p.Glu311=) n.2529G>A c.1008G>A (p.Glu336=) c.960G>A (p.Glu320=) c.885G>A (p.Glu295=) c.828G>A (p.Glu276=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.30672116G>C | CA351808197 | TGFBR2 | c.933G>C (p.Glu311Asp) n.2529G>C c.1008G>C (p.Glu336Asp) c.960G>C (p.Glu320Asp) c.885G>C (p.Glu295Asp) c.828G>C (p.Glu276Asp) | |
3 | g.30672116G= | CA1354873137 | TGFBR2 | c.933G= (p.Glu311=) n.2529G= c.1008G= (p.Glu336=) c.960G= (p.Glu320=) c.885G= (p.Glu295=) c.828G= (p.Glu276=) | |
3 | g.30672116G>T | CA351808198 | TGFBR2 | c.933G>T (p.Glu311Asp) n.2529G>T c.1008G>T (p.Glu336Asp) c.960G>T (p.Glu320Asp) c.885G>T (p.Glu295Asp) c.828G>T (p.Glu276Asp) | |
3 | g.30672119_30672138del | CA541976297 | TGFBR2 | c.936_955del (p.Arg313ThrfsTer?) n.2532_2551del c.1011_1030del (p.Arg338ThrfsTer?) c.963_982del (p.Arg322ThrfsTer?) c.888_907del (p.Arg297ThrfsTer?) c.831_850del (p.Arg278ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672117G>A | CA020552 | TGFBR2 | c.934G>A (p.Glu312Lys) n.2530G>A c.1009G>A (p.Glu337Lys) c.961G>A (p.Glu321Lys) c.886G>A (p.Glu296Lys) c.829G>A (p.Glu277Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.30672117G>C | CA351808199 | TGFBR2 | c.934G>C (p.Glu312Gln) n.2530G>C c.1009G>C (p.Glu337Gln) c.961G>C (p.Glu321Gln) c.886G>C (p.Glu296Gln) c.829G>C (p.Glu277Gln) | dbSNP |
3 | g.30672117G= | CA1354873138 | TGFBR2 | c.934G= (p.Glu312=) n.2530G= c.1009G= (p.Glu337=) c.961G= (p.Glu321=) c.886G= (p.Glu296=) c.829G= (p.Glu277=) | |
3 | g.30672117G>T | CA351808200 | TGFBR2 | c.934G>T (p.Glu312Ter) n.2530G>T c.1009G>T (p.Glu337Ter) c.961G>T (p.Glu321Ter) c.886G>T (p.Glu296Ter) c.829G>T (p.Glu277Ter) | dbSNP |
3 | g.30672118A>C | CA351808203 | TGFBR2 | c.935A>C (p.Glu312Ala) n.2531A>C c.1010A>C (p.Glu337Ala) c.962A>C (p.Glu321Ala) c.887A>C (p.Glu296Ala) c.830A>C (p.Glu277Ala) | |
3 | g.30672118A>G | CA351808202 | TGFBR2 | c.935A>G (p.Glu312Gly) n.2531A>G c.1010A>G (p.Glu337Gly) c.962A>G (p.Glu321Gly) c.887A>G (p.Glu296Gly) c.830A>G (p.Glu277Gly) | dbSNP |
3 | g.30672118A>T | CA351808201 | TGFBR2 | c.935A>T (p.Glu312Val) n.2531A>T c.1010A>T (p.Glu337Val) c.962A>T (p.Glu321Val) c.887A>T (p.Glu296Val) c.830A>T (p.Glu277Val) | dbSNP |
3 | g.30672119G>A | CA433058911 | TGFBR2 | c.936G>A (p.Glu312=) n.2532G>A c.1011G>A (p.Glu337=) c.963G>A (p.Glu321=) c.888G>A (p.Glu296=) c.831G>A (p.Glu277=) | dbSNP |