| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.189864351dup | CA1057637930 | TP63 | c.699dup (p.Ala234SerfsTer2) c.417dup (p.Ala140SerfsTer2) c.162dup (p.Ala55SerfsTer2) n.523dup c.648dup (p.Ala217SerfsTer2) c.696dup (p.Ala233SerfsTer2) c.693dup (p.Ala232SerfsTer2) c.660dup (p.Ala221SerfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189864351del | CA645528630 | TP63 | c.699del (p.Ala234LeufsTer8) c.417del (p.Ala140LeufsTer8) c.162del (p.Ala55LeufsTer8) n.523del c.648del (p.Ala217LeufsTer8) c.696del (p.Ala233LeufsTer8) c.693del (p.Ala232LeufsTer8) c.660del (p.Ala221LeufsTer8) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.189864349A= | CA1428525443 | TP63 | c.697A= (p.Lys233=) c.415A= (p.Lys139=) c.160A= (p.Lys54=) n.521A= c.646A= (p.Lys216=) c.694A= (p.Lys232=) c.691A= (p.Lys231=) c.658A= (p.Lys220=) | |
| 3 | g.189864349A>C | CA355753622 | TP63 | c.697A>C (p.Lys233Gln) c.415A>C (p.Lys139Gln) c.160A>C (p.Lys54Gln) n.521A>C c.646A>C (p.Lys216Gln) c.694A>C (p.Lys232Gln) c.691A>C (p.Lys231Gln) c.658A>C (p.Lys220Gln) | |
| 3 | g.189864349A>G | CA118337 | TP63 | c.697A>G (p.Lys233Glu) c.415A>G (p.Lys139Glu) c.160A>G (p.Lys54Glu) n.521A>G c.646A>G (p.Lys216Glu) c.694A>G (p.Lys232Glu) c.691A>G (p.Lys231Glu) c.658A>G (p.Lys220Glu) | ClinVar dbSNP |
| 3 | g.189864349A>T | CA355753624 | TP63 | c.697A>T (p.Lys233Ter) c.415A>T (p.Lys139Ter) c.160A>T (p.Lys54Ter) n.521A>T c.646A>T (p.Lys216Ter) c.694A>T (p.Lys232Ter) c.691A>T (p.Lys231Ter) c.658A>T (p.Lys220Ter) | |
| 3 | g.189864349_189864352delinsAAAG | CA1428525444 | TP63 | c.697_700delinsAAAG (p.Lys233=) c.415_418delinsAAAG (p.Lys139=) c.160_163delinsAAAG (p.Lys54=) n.521_524delinsAAAG c.646_649delinsAAAG (p.Lys216=) c.694_697delinsAAAG (p.Lys232=) c.691_694delinsAAAG (p.Lys231=) c.658_661delinsAAAG (p.Lys220=) | |
| 3 | g.189864350A= | CA1428525445 | TP63 | c.698A= (p.Lys233=) c.416A= (p.Lys139=) c.161A= (p.Lys54=) n.522A= c.647A= (p.Lys216=) c.695A= (p.Lys232=) c.692A= (p.Lys231=) c.659A= (p.Lys220=) | |
| 3 | g.189864350A>C | CA355753628 | TP63 | c.698A>C (p.Lys233Thr) c.416A>C (p.Lys139Thr) c.161A>C (p.Lys54Thr) n.522A>C c.647A>C (p.Lys216Thr) c.695A>C (p.Lys232Thr) c.692A>C (p.Lys231Thr) c.659A>C (p.Lys220Thr) | ClinVar dbSNP |
| 3 | g.189864350A>G | CA355753630 | TP63 | c.698A>G (p.Lys233Arg) c.416A>G (p.Lys139Arg) c.161A>G (p.Lys54Arg) n.522A>G c.647A>G (p.Lys216Arg) c.695A>G (p.Lys232Arg) c.692A>G (p.Lys231Arg) c.659A>G (p.Lys220Arg) | |
| 3 | g.189864350A>T | CA355753626 | TP63 | c.698A>T (p.Lys233Ile) c.416A>T (p.Lys139Ile) c.161A>T (p.Lys54Ile) n.522A>T c.647A>T (p.Lys216Ile) c.695A>T (p.Lys232Ile) c.692A>T (p.Lys231Ile) c.659A>T (p.Lys220Ile) | |
| 3 | g.189864350_189864352del | CA891843050 | TP63 | c.698_700del (p.Lys233_Ala234delinsThr) c.416_418del (p.Lys139_Ala140delinsThr) c.161_163del (p.Lys54_Ala55delinsThr) n.522_524del c.647_649del (p.Lys216_Ala217delinsThr) c.695_697del (p.Lys232_Ala233delinsThr) c.692_694del (p.Lys231_Ala232delinsThr) c.659_661del (p.Lys220_Ala221delinsThr) | ClinVar dbSNP |
| 3 | g.189864351A= | CA1428525446 | TP63 | c.699A= (p.Lys233=) c.417A= (p.Lys139=) c.162A= (p.Lys54=) n.523A= c.648A= (p.Lys216=) c.696A= (p.Lys232=) c.693A= (p.Lys231=) c.660A= (p.Lys220=) | |
| 3 | g.189864351A>C | CA355753631 | TP63 | c.699A>C (p.Lys233Asn) c.417A>C (p.Lys139Asn) c.162A>C (p.Lys54Asn) n.523A>C c.648A>C (p.Lys216Asn) c.696A>C (p.Lys232Asn) c.693A>C (p.Lys231Asn) c.660A>C (p.Lys220Asn) | |
| 3 | g.189864351A>G | CA2752229 | TP63 | c.699A>G (p.Lys233=) c.417A>G (p.Lys139=) c.162A>G (p.Lys54=) n.523A>G c.648A>G (p.Lys216=) c.696A>G (p.Lys232=) c.693A>G (p.Lys231=) c.660A>G (p.Lys220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864351A>T | CA355753633 | TP63 | c.699A>T (p.Lys233Asn) c.417A>T (p.Lys139Asn) c.162A>T (p.Lys54Asn) n.523A>T c.648A>T (p.Lys216Asn) c.696A>T (p.Lys232Asn) c.693A>T (p.Lys231Asn) c.660A>T (p.Lys220Asn) | dbSNP |
| 3 | g.189864352G>A | CA355753635 | TP63 | c.700G>A (p.Ala234Thr) c.418G>A (p.Ala140Thr) c.163G>A (p.Ala55Thr) n.524G>A c.649G>A (p.Ala217Thr) c.697G>A (p.Ala233Thr) c.694G>A (p.Ala232Thr) c.661G>A (p.Ala221Thr) | COSMIC COSMIC |
| 3 | g.189864352G>C | CA355753636 | TP63 | c.700G>C (p.Ala234Pro) c.418G>C (p.Ala140Pro) c.163G>C (p.Ala55Pro) n.524G>C c.649G>C (p.Ala217Pro) c.697G>C (p.Ala233Pro) c.694G>C (p.Ala232Pro) c.661G>C (p.Ala221Pro) | |
| 3 | g.189864352G>T | CA355753638 | TP63 | c.700G>T (p.Ala234Ser) c.418G>T (p.Ala140Ser) c.163G>T (p.Ala55Ser) n.524G>T c.649G>T (p.Ala217Ser) c.697G>T (p.Ala233Ser) c.694G>T (p.Ala232Ser) c.661G>T (p.Ala221Ser) | |
| 3 | g.189864353C>A | CA355753639 | TP63 | c.701C>A (p.Ala234Asp) c.419C>A (p.Ala140Asp) c.164C>A (p.Ala55Asp) n.525C>A c.650C>A (p.Ala217Asp) c.698C>A (p.Ala233Asp) c.695C>A (p.Ala232Asp) c.662C>A (p.Ala221Asp) | |
| 3 | g.189864353C>G | CA355753641 | TP63 | c.701C>G (p.Ala234Gly) c.419C>G (p.Ala140Gly) c.164C>G (p.Ala55Gly) n.525C>G c.650C>G (p.Ala217Gly) c.698C>G (p.Ala233Gly) c.695C>G (p.Ala232Gly) c.662C>G (p.Ala221Gly) | gnomAD v4 |
| 3 | g.189864353C>T | CA355753643 | TP63 | c.701C>T (p.Ala234Val) c.419C>T (p.Ala140Val) c.164C>T (p.Ala55Val) n.525C>T c.650C>T (p.Ala217Val) c.698C>T (p.Ala233Val) c.695C>T (p.Ala232Val) c.662C>T (p.Ala221Val) | |
| 3 | g.189864354T>A | CA437412943 | TP63 | c.702T>A (p.Ala234=) c.420T>A (p.Ala140=) c.165T>A (p.Ala55=) n.526T>A c.651T>A (p.Ala217=) c.699T>A (p.Ala233=) c.696T>A (p.Ala232=) c.663T>A (p.Ala221=) | |
| 3 | g.189864354T>C | CA437412944 | TP63 | c.702T>C (p.Ala234=) c.420T>C (p.Ala140=) c.165T>C (p.Ala55=) n.526T>C c.651T>C (p.Ala217=) c.699T>C (p.Ala233=) c.696T>C (p.Ala232=) c.663T>C (p.Ala221=) | |
| 3 | g.189864354T>G | CA437412945 | TP63 | c.702T>G (p.Ala234=) c.420T>G (p.Ala140=) c.165T>G (p.Ala55=) n.526T>G c.651T>G (p.Ala217=) c.699T>G (p.Ala233=) c.696T>G (p.Ala232=) c.663T>G (p.Ala221=) | |
| 3 | g.189864355G>A | CA355753644 | TP63 | c.703G>A (p.Glu235Lys) c.421G>A (p.Glu141Lys) c.166G>A (p.Glu56Lys) n.527G>A c.652G>A (p.Glu218Lys) c.700G>A (p.Glu234Lys) c.697G>A (p.Glu233Lys) c.664G>A (p.Glu222Lys) | |
| 3 | g.189864355G>C | CA355753645 | TP63 | c.703G>C (p.Glu235Gln) c.421G>C (p.Glu141Gln) c.166G>C (p.Glu56Gln) n.527G>C c.652G>C (p.Glu218Gln) c.700G>C (p.Glu234Gln) c.697G>C (p.Glu233Gln) c.664G>C (p.Glu222Gln) | |
| 3 | g.189864355G>T | CA355753646 | TP63 | c.703G>T (p.Glu235Ter) c.421G>T (p.Glu141Ter) c.166G>T (p.Glu56Ter) n.527G>T c.652G>T (p.Glu218Ter) c.700G>T (p.Glu234Ter) c.697G>T (p.Glu233Ter) c.664G>T (p.Glu222Ter) | |
| 3 | g.189864356A>C | CA355753651 | TP63 | c.704A>C (p.Glu235Ala) c.422A>C (p.Glu141Ala) c.167A>C (p.Glu56Ala) n.528A>C c.653A>C (p.Glu218Ala) c.701A>C (p.Glu234Ala) c.698A>C (p.Glu233Ala) c.665A>C (p.Glu222Ala) | |
| 3 | g.189864356A>G | CA355753648 | TP63 | c.704A>G (p.Glu235Gly) c.422A>G (p.Glu141Gly) c.167A>G (p.Glu56Gly) n.528A>G c.653A>G (p.Glu218Gly) c.701A>G (p.Glu234Gly) c.698A>G (p.Glu233Gly) c.665A>G (p.Glu222Gly) | |
| 3 | g.189864356A>T | CA355753650 | TP63 | c.704A>T (p.Glu235Val) c.422A>T (p.Glu141Val) c.167A>T (p.Glu56Val) n.528A>T c.653A>T (p.Glu218Val) c.701A>T (p.Glu234Val) c.698A>T (p.Glu233Val) c.665A>T (p.Glu222Val) | |
| 3 | g.189864357G>A | CA437412946 | TP63 | c.705G>A (p.Glu235=) c.423G>A (p.Glu141=) c.168G>A (p.Glu56=) n.529G>A c.654G>A (p.Glu218=) c.702G>A (p.Glu234=) c.699G>A (p.Glu233=) c.666G>A (p.Glu222=) | |
| 3 | g.189864357G>C | CA355753653 | TP63 | c.705G>C (p.Glu235Asp) c.423G>C (p.Glu141Asp) c.168G>C (p.Glu56Asp) n.529G>C c.654G>C (p.Glu218Asp) c.702G>C (p.Glu234Asp) c.699G>C (p.Glu233Asp) c.666G>C (p.Glu222Asp) | |
| 3 | g.189864357G>T | CA355753655 | TP63 | c.705G>T (p.Glu235Asp) c.423G>T (p.Glu141Asp) c.168G>T (p.Glu56Asp) n.529G>T c.654G>T (p.Glu218Asp) c.702G>T (p.Glu234Asp) c.699G>T (p.Glu233Asp) c.666G>T (p.Glu222Asp) | |
| 3 | g.189864358C>A | CA355753657 | TP63 | c.706C>A (p.His236Asn) c.424C>A (p.His142Asn) c.169C>A (p.His57Asn) n.530C>A c.655C>A (p.His219Asn) c.703C>A (p.His235Asn) c.700C>A (p.His234Asn) c.667C>A (p.His223Asn) | |
| 3 | g.189864358C>G | CA355753658 | TP63 | c.706C>G (p.His236Asp) c.424C>G (p.His142Asp) c.169C>G (p.His57Asp) n.530C>G c.655C>G (p.His219Asp) c.703C>G (p.His235Asp) c.700C>G (p.His234Asp) c.667C>G (p.His223Asp) | |
| 3 | g.189864358C>T | CA355753660 | TP63 | c.706C>T (p.His236Tyr) c.424C>T (p.His142Tyr) c.169C>T (p.His57Tyr) n.530C>T c.655C>T (p.His219Tyr) c.703C>T (p.His235Tyr) c.700C>T (p.His234Tyr) c.667C>T (p.His223Tyr) | |
| 3 | g.189864359A>C | CA355753662 | TP63 | c.707A>C (p.His236Pro) c.425A>C (p.His142Pro) c.170A>C (p.His57Pro) n.531A>C c.656A>C (p.His219Pro) c.704A>C (p.His235Pro) c.701A>C (p.His234Pro) c.668A>C (p.His223Pro) | |
| 3 | g.189864359A>G | CA355753663 | TP63 | c.707A>G (p.His236Arg) c.425A>G (p.His142Arg) c.170A>G (p.His57Arg) n.531A>G c.656A>G (p.His219Arg) c.704A>G (p.His235Arg) c.701A>G (p.His234Arg) c.668A>G (p.His223Arg) | COSMIC |
| 3 | g.189864359A>T | CA355753665 | TP63 | c.707A>T (p.His236Leu) c.425A>T (p.His142Leu) c.170A>T (p.His57Leu) n.531A>T c.656A>T (p.His219Leu) c.704A>T (p.His235Leu) c.701A>T (p.His234Leu) c.668A>T (p.His223Leu) | |
| 3 | g.189864360C>A | CA355753666 | TP63 | c.708C>A (p.His236Gln) c.426C>A (p.His142Gln) c.171C>A (p.His57Gln) n.532C>A c.657C>A (p.His219Gln) c.705C>A (p.His235Gln) c.702C>A (p.His234Gln) c.669C>A (p.His223Gln) | |
| 3 | g.189864360C= | CA1428525447 | TP63 | c.708C= (p.His236=) c.426C= (p.His142=) c.171C= (p.His57=) n.532C= c.657C= (p.His219=) c.705C= (p.His235=) c.702C= (p.His234=) c.669C= (p.His223=) | |
| 3 | g.189864360C>G | CA355753668 | TP63 | c.708C>G (p.His236Gln) c.426C>G (p.His142Gln) c.171C>G (p.His57Gln) n.532C>G c.657C>G (p.His219Gln) c.705C>G (p.His235Gln) c.702C>G (p.His234Gln) c.669C>G (p.His223Gln) | |
| 3 | g.189864360C>T | CA437412947 | TP63 | c.708C>T (p.His236=) c.426C>T (p.His142=) c.171C>T (p.His57=) n.532C>T c.657C>T (p.His219=) c.705C>T (p.His235=) c.702C>T (p.His234=) c.669C>T (p.His223=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864361G>A | CA2752230 | TP63 | c.709G>A (p.Val237Ile) c.427G>A (p.Val143Ile) c.172G>A (p.Val58Ile) n.533G>A c.658G>A (p.Val220Ile) c.706G>A (p.Val236Ile) c.703G>A (p.Val235Ile) c.670G>A (p.Val224Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.189864361G>C | CA355753670 | TP63 | c.709G>C (p.Val237Leu) c.427G>C (p.Val143Leu) c.172G>C (p.Val58Leu) n.533G>C c.658G>C (p.Val220Leu) c.706G>C (p.Val236Leu) c.703G>C (p.Val235Leu) c.670G>C (p.Val224Leu) | |
| 3 | g.189864361G= | CA1428525448 | TP63 | c.709G= (p.Val237=) c.427G= (p.Val143=) c.172G= (p.Val58=) n.533G= c.658G= (p.Val220=) c.706G= (p.Val236=) c.703G= (p.Val235=) c.670G= (p.Val224=) | |
| 3 | g.189864361G>T | CA355753672 | TP63 | c.709G>T (p.Val237Phe) c.427G>T (p.Val143Phe) c.172G>T (p.Val58Phe) n.533G>T c.658G>T (p.Val220Phe) c.706G>T (p.Val236Phe) c.703G>T (p.Val235Phe) c.670G>T (p.Val224Phe) | |
| 3 | g.189864362T>A | CA355753676 | TP63 | c.710T>A (p.Val237Asp) c.428T>A (p.Val143Asp) c.173T>A (p.Val58Asp) n.534T>A c.659T>A (p.Val220Asp) c.707T>A (p.Val236Asp) c.704T>A (p.Val235Asp) c.671T>A (p.Val224Asp) | |
| 3 | g.189864362T>C | CA355753677 | TP63 | c.710T>C (p.Val237Ala) c.428T>C (p.Val143Ala) c.173T>C (p.Val58Ala) n.534T>C c.659T>C (p.Val220Ala) c.707T>C (p.Val236Ala) c.704T>C (p.Val235Ala) c.671T>C (p.Val224Ala) |