| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.177038366_177038380del | CA645526864 | TBL1XR1,TBL1XR1-AS1 | c.980_994del (p.Thr327_His332delinsAsn) c.719_733del (p.Thr240_His245delinsAsn) n.165_179del c.579_593del c.1010_1024del (p.Thr337_His342delinsAsn) c.1019_1033del (p.Thr340_His345delinsAsn) n.345_359del | COSMIC |
| 3 | g.177038373C>A | CA355555364 | TBL1XR1,TBL1XR1-AS1 | c.987G>T (p.Met329Ile) c.726G>T (p.Met242Ile) n.172G>T c.586G>T c.1017G>T (p.Met339Ile) c.1026G>T (p.Met342Ile) n.352C>A | gnomAD v3 gnomAD v4 |
| 3 | g.177038373C= | CA1422663127 | TBL1XR1,TBL1XR1-AS1 | c.987G= (p.Met329=) c.726G= (p.Met242=) n.172G= c.586G= c.1017G= (p.Met339=) c.1026G= (p.Met342=) n.352C= | |
| 3 | g.177038373C>G | CA355555365 | TBL1XR1,TBL1XR1-AS1 | c.987G>C (p.Met329Ile) c.726G>C (p.Met242Ile) n.172G>C c.586G>C c.1017G>C (p.Met339Ile) c.1026G>C (p.Met342Ile) n.352C>G | |
| 3 | g.177038373C>T | CA16604489 | TBL1XR1,TBL1XR1-AS1 | c.987G>A (p.Met329Ile) c.726G>A (p.Met242Ile) n.172G>A c.586G>A c.1017G>A (p.Met339Ile) c.1026G>A (p.Met342Ile) n.352C>T | ClinVar dbSNP |
| 3 | g.177038374A>C | CA355555366 | TBL1XR1,TBL1XR1-AS1 | c.986T>G (p.Met329Arg) c.725T>G (p.Met242Arg) n.171T>G c.585T>G c.1016T>G (p.Met339Arg) c.1025T>G (p.Met342Arg) n.353A>C | |
| 3 | g.177038374A>G | CA355555367 | TBL1XR1,TBL1XR1-AS1 | c.986T>C (p.Met329Thr) c.725T>C (p.Met242Thr) n.171T>C c.585T>C c.1016T>C (p.Met339Thr) c.1025T>C (p.Met342Thr) n.353A>G | gnomAD v4 |
| 3 | g.177038374A>T | CA355555368 | TBL1XR1,TBL1XR1-AS1 | c.986T>A (p.Met329Lys) c.725T>A (p.Met242Lys) n.171T>A c.585T>A c.1016T>A (p.Met339Lys) c.1025T>A (p.Met342Lys) n.353A>T | |
| 3 | g.177038375T>A | CA355555371 | TBL1XR1,TBL1XR1-AS1 | c.985A>T (p.Met329Leu) c.724A>T (p.Met242Leu) n.170A>T c.584A>T c.1015A>T (p.Met339Leu) c.1024A>T (p.Met342Leu) n.354T>A | |
| 3 | g.177038375T>C | CA355555369 | TBL1XR1,TBL1XR1-AS1 | c.985A>G (p.Met329Val) c.724A>G (p.Met242Val) n.170A>G c.584A>G c.1015A>G (p.Met339Val) c.1024A>G (p.Met342Val) n.354T>C | |
| 3 | g.177038375T>G | CA355555370 | TBL1XR1,TBL1XR1-AS1 | c.985A>C (p.Met329Leu) c.724A>C (p.Met242Leu) n.170A>C c.584A>C c.1015A>C (p.Met339Leu) c.1024A>C (p.Met342Leu) n.354T>G | |
| 3 | g.177038375dup | CA2586973233 | TBL1XR1,TBL1XR1-AS1 | c.985dup (p.Met329AsnfsTer7) c.724dup (p.Met242AsnfsTer7) n.170dup c.584dup c.1015dup (p.Met339AsnfsTer7) c.1024dup (p.Met342AsnfsTer7) n.354dup | |
| 3 | g.177038376A>C | CA355555372 | TBL1XR1,TBL1XR1-AS1 | c.984T>G (p.Asp328Glu) c.723T>G (p.Asp241Glu) n.169T>G c.583T>G c.1014T>G (p.Asp338Glu) c.1023T>G (p.Asp341Glu) n.355A>C | |
| 3 | g.177038376A>G | CA436985972 | TBL1XR1,TBL1XR1-AS1 | c.984T>C (p.Asp328=) c.723T>C (p.Asp241=) n.169T>C c.583T>C c.1014T>C (p.Asp338=) c.1023T>C (p.Asp341=) n.355A>G | |
| 3 | g.177038376A>T | CA355555373 | TBL1XR1,TBL1XR1-AS1 | c.984T>A (p.Asp328Glu) c.723T>A (p.Asp241Glu) n.169T>A c.583T>A c.1014T>A (p.Asp338Glu) c.1023T>A (p.Asp341Glu) n.355A>T | |
| 3 | g.177038377T>A | CA355555374 | TBL1XR1,TBL1XR1-AS1 | c.983A>T (p.Asp328Val) c.722A>T (p.Asp241Val) n.168A>T c.582A>T c.1013A>T (p.Asp338Val) c.1022A>T (p.Asp341Val) n.356T>A | |
| 3 | g.177038377T>C | CA355555375 | TBL1XR1,TBL1XR1-AS1 | c.983A>G (p.Asp328Gly) c.722A>G (p.Asp241Gly) n.168A>G c.582A>G c.1013A>G (p.Asp338Gly) c.1022A>G (p.Asp341Gly) n.356T>C | |
| 3 | g.177038377T>G | CA355555376 | TBL1XR1,TBL1XR1-AS1 | c.983A>C (p.Asp328Ala) c.722A>C (p.Asp241Ala) n.168A>C c.582A>C c.1013A>C (p.Asp338Ala) c.1022A>C (p.Asp341Ala) n.356T>G | |
| 3 | g.177038378C>A | CA355555377 | TBL1XR1,TBL1XR1-AS1 | c.982G>T (p.Asp328Tyr) c.721G>T (p.Asp241Tyr) n.167G>T c.581G>T c.1012G>T (p.Asp338Tyr) c.1021G>T (p.Asp341Tyr) n.357C>A | gnomAD v4 |
| 3 | g.177038378C>G | CA355555378 | TBL1XR1,TBL1XR1-AS1 | c.982G>C (p.Asp328His) c.721G>C (p.Asp241His) n.167G>C c.581G>C c.1012G>C (p.Asp338His) c.1021G>C (p.Asp341His) n.357C>G | |
| 3 | g.177038378C>T | CA355555379 | TBL1XR1,TBL1XR1-AS1 | c.982G>A (p.Asp328Asn) c.721G>A (p.Asp241Asn) n.167G>A c.581G>A c.1012G>A (p.Asp338Asn) c.1021G>A (p.Asp341Asn) n.357C>T | gnomAD v4 |
| 3 | g.177038380_177038384del | CA645526865 | TBL1XR1,TBL1XR1-AS1 | c.978_982del (p.Ser326ArgfsTer8) c.717_721del (p.Ser239ArgfsTer8) n.163_167del c.577_581del c.1008_1012del (p.Ser336ArgfsTer8) c.1017_1021del (p.Ser339ArgfsTer8) n.359_363del | COSMIC |
| 3 | g.177038379T>A | CA436985985 | TBL1XR1,TBL1XR1-AS1 | c.981A>T (p.Thr327=) c.720A>T (p.Thr240=) n.166A>T c.580A>T c.1011A>T (p.Thr337=) c.1020A>T (p.Thr340=) n.358T>A | |
| 3 | g.177038379T>C | CA436985987 | TBL1XR1,TBL1XR1-AS1 | c.981A>G (p.Thr327=) c.720A>G (p.Thr240=) n.166A>G c.580A>G c.1011A>G (p.Thr337=) c.1020A>G (p.Thr340=) n.358T>C | gnomAD v4 |
| 3 | g.177038379T>G | CA436985989 | TBL1XR1,TBL1XR1-AS1 | c.981A>C (p.Thr327=) c.720A>C (p.Thr240=) n.166A>C c.580A>C c.1011A>C (p.Thr337=) c.1020A>C (p.Thr340=) n.358T>G | |
| 3 | g.177038380G>A | CA355555380 | TBL1XR1,TBL1XR1-AS1 | c.980C>T (p.Thr327Ile) c.719C>T (p.Thr240Ile) n.165C>T c.579C>T c.1010C>T (p.Thr337Ile) c.1019C>T (p.Thr340Ile) n.359G>A | gnomAD v4 |
| 3 | g.177038380G>C | CA355555381 | TBL1XR1,TBL1XR1-AS1 | c.980C>G (p.Thr327Arg) c.719C>G (p.Thr240Arg) n.165C>G c.579C>G c.1010C>G (p.Thr337Arg) c.1019C>G (p.Thr340Arg) n.359G>C | |
| 3 | g.177038380G= | CA1422663128 | TBL1XR1,TBL1XR1-AS1 | c.980C= (p.Thr327=) c.719C= (p.Thr240=) n.165C= c.579C= c.1010C= (p.Thr337=) c.1019C= (p.Thr340=) n.359G= | |
| 3 | g.177038380G>T | CA355555382 | TBL1XR1,TBL1XR1-AS1 | c.980C>A (p.Thr327Lys) c.719C>A (p.Thr240Lys) n.165C>A c.579C>A c.1010C>A (p.Thr337Lys) c.1019C>A (p.Thr340Lys) n.359G>T | dbSNP |
| 3 | g.177038381T>A | CA355555385 | TBL1XR1,TBL1XR1-AS1 | c.979A>T (p.Thr327Ser) c.718A>T (p.Thr240Ser) n.164A>T c.578A>T c.1009A>T (p.Thr337Ser) c.1018A>T (p.Thr340Ser) n.360T>A | |
| 3 | g.177038381T>C | CA355555384 | TBL1XR1,TBL1XR1-AS1 | c.979A>G (p.Thr327Ala) c.718A>G (p.Thr240Ala) n.164A>G c.578A>G c.1009A>G (p.Thr337Ala) c.1018A>G (p.Thr340Ala) n.360T>C | |
| 3 | g.177038381T>G | CA355555383 | TBL1XR1,TBL1XR1-AS1 | c.979A>C (p.Thr327Pro) c.718A>C (p.Thr240Pro) n.164A>C c.578A>C c.1009A>C (p.Thr337Pro) c.1018A>C (p.Thr340Pro) n.360T>G | |
| 3 | g.177038382A>C | CA355555386 | TBL1XR1,TBL1XR1-AS1 | c.978T>G (p.Ser326Arg) c.717T>G (p.Ser239Arg) n.163T>G c.577T>G c.1008T>G (p.Ser336Arg) c.1017T>G (p.Ser339Arg) n.361A>C | |
| 3 | g.177038382A>G | CA436985999 | TBL1XR1,TBL1XR1-AS1 | c.978T>C (p.Ser326=) c.717T>C (p.Ser239=) n.163T>C c.577T>C c.1008T>C (p.Ser336=) c.1017T>C (p.Ser339=) n.361A>G | |
| 3 | g.177038382A>T | CA355555387 | TBL1XR1,TBL1XR1-AS1 | c.978T>A (p.Ser326Arg) c.717T>A (p.Ser239Arg) n.163T>A c.577T>A c.1008T>A (p.Ser336Arg) c.1017T>A (p.Ser339Arg) n.361A>T | |
| 3 | g.177038383C>A | CA355555388 | TBL1XR1,TBL1XR1-AS1 | c.977G>T (p.Ser326Ile) c.716G>T (p.Ser239Ile) n.162G>T c.576G>T c.1007G>T (p.Ser336Ile) c.1016G>T (p.Ser339Ile) n.362C>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.177038383C= | CA1422663129 | TBL1XR1,TBL1XR1-AS1 | c.977G= (p.Ser326=) c.716G= (p.Ser239=) n.162G= c.576G= c.1007G= (p.Ser336=) c.1016G= (p.Ser339=) n.362C= | |
| 3 | g.177038383C>G | CA355555389 | TBL1XR1,TBL1XR1-AS1 | c.977G>C (p.Ser326Thr) c.716G>C (p.Ser239Thr) n.162G>C c.576G>C c.1007G>C (p.Ser336Thr) c.1016G>C (p.Ser339Thr) n.362C>G | |
| 3 | g.177038383C>T | CA355555390 | TBL1XR1,TBL1XR1-AS1 | c.977G>A (p.Ser326Asn) c.716G>A (p.Ser239Asn) n.162G>A c.576G>A c.1007G>A (p.Ser336Asn) c.1016G>A (p.Ser339Asn) n.362C>T | ClinVar COSMIC |
| 3 | g.177038384T>A | CA355555391 | TBL1XR1,TBL1XR1-AS1 | c.976A>T (p.Ser326Cys) c.715A>T (p.Ser239Cys) n.161A>T c.575A>T c.1006A>T (p.Ser336Cys) c.1015A>T (p.Ser339Cys) n.363T>A | |
| 3 | g.177038384T>C | CA355555392 | TBL1XR1,TBL1XR1-AS1 | c.976A>G (p.Ser326Gly) c.715A>G (p.Ser239Gly) n.161A>G c.575A>G c.1006A>G (p.Ser336Gly) c.1015A>G (p.Ser339Gly) n.363T>C | |
| 3 | g.177038384T>G | CA355555393 | TBL1XR1,TBL1XR1-AS1 | c.976A>C (p.Ser326Arg) c.715A>C (p.Ser239Arg) n.161A>C c.575A>C c.1006A>C (p.Ser336Arg) c.1015A>C (p.Ser339Arg) n.363T>G | |
| 3 | g.177038384T= | CA1422663130 | TBL1XR1,TBL1XR1-AS1 | c.976A= (p.Ser326=) c.715A= (p.Ser239=) n.161A= c.575A= c.1006A= (p.Ser336=) c.1015A= (p.Ser339=) n.363T= | |
| 3 | g.177038385A>C | CA355555394 | TBL1XR1,TBL1XR1-AS1 | c.975T>G (p.Cys325Trp) c.714T>G (p.Cys238Trp) n.160T>G c.574T>G c.1005T>G (p.Cys335Trp) c.1014T>G (p.Cys338Trp) n.364A>C | |
| 3 | g.177038385A>G | CA436986008 | TBL1XR1,TBL1XR1-AS1 | c.975T>C (p.Cys325=) c.714T>C (p.Cys238=) n.160T>C c.574T>C c.1005T>C (p.Cys335=) c.1014T>C (p.Cys338=) n.364A>G | |
| 3 | g.177038385A>T | CA355555395 | TBL1XR1,TBL1XR1-AS1 | c.975T>A (p.Cys325Ter) c.714T>A (p.Cys238Ter) n.160T>A c.574T>A c.1005T>A (p.Cys335Ter) c.1014T>A (p.Cys338Ter) n.364A>T | |
| 3 | g.177038386_177038387del | CA2668595641 | TBL1XR1,TBL1XR1-AS1 | c.974_975del (p.Cys325Ter) c.713_714del (p.Cys238Ter) n.159_160del c.573_574del c.1004_1005del (p.Cys335Ter) c.1013_1014del (p.Cys338Ter) n.365_366del | gnomAD v4 |
| 3 | g.177038386_177038388dup | CA1139658343 | TBL1XR1,TBL1XR1-AS1 | c.973_975dup (p.Cys325_Ser326insCys) c.712_714dup (p.Cys238_Ser239insCys) n.158_160dup c.572_574dup c.1003_1005dup (p.Cys335_Ser336insCys) c.1012_1014dup (p.Cys338_Ser339insCys) n.365_367dup | ClinVar dbSNP |
| 3 | g.177038386C>A | CA355555396 | TBL1XR1,TBL1XR1-AS1 | c.974G>T (p.Cys325Phe) c.713G>T (p.Cys238Phe) n.159G>T c.573G>T c.1004G>T (p.Cys335Phe) c.1013G>T (p.Cys338Phe) n.365C>A | COSMIC |
| 3 | g.177038386C= | CA1422663131 | TBL1XR1,TBL1XR1-AS1 | c.974G= (p.Cys325=) c.713G= (p.Cys238=) n.159G= c.573G= c.1004G= (p.Cys335=) c.1013G= (p.Cys338=) n.365C= |