UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.189864387C>A | CA437412964 | TP63 | c.735C>A (p.Pro245=) c.453C>A (p.Pro151=) c.198C>A (p.Pro66=) n.559C>A c.684C>A (p.Pro228=) c.732C>A (p.Pro244=) c.729C>A (p.Pro243=) c.696C>A (p.Pro232=) | |
| 3 | g.189864387C>G | CA437412965 | TP63 | c.735C>G (p.Pro245=) c.453C>G (p.Pro151=) c.198C>G (p.Pro66=) n.559C>G c.684C>G (p.Pro228=) c.732C>G (p.Pro244=) c.729C>G (p.Pro243=) c.696C>G (p.Pro232=) | |
| 3 | g.189864387C>T | CA437412966 | TP63 | c.735C>T (p.Pro245=) c.453C>T (p.Pro151=) c.198C>T (p.Pro66=) n.559C>T c.684C>T (p.Pro228=) c.732C>T (p.Pro244=) c.729C>T (p.Pro243=) c.696C>T (p.Pro232=) | |
| 3 | g.189864388A>C | CA355753761 | TP63 | c.736A>C (p.Asn246His) c.454A>C (p.Asn152His) c.199A>C (p.Asn67His) n.560A>C c.685A>C (p.Asn229His) c.733A>C (p.Asn245His) c.730A>C (p.Asn244His) c.697A>C (p.Asn233His) | |
| 3 | g.189864388A>G | CA355753762 | TP63 | c.736A>G (p.Asn246Asp) c.454A>G (p.Asn152Asp) c.199A>G (p.Asn67Asp) n.560A>G c.685A>G (p.Asn229Asp) c.733A>G (p.Asn245Asp) c.730A>G (p.Asn244Asp) c.697A>G (p.Asn233Asp) | ClinVar |
| 3 | g.189864388A>T | CA355753763 | TP63 | c.736A>T (p.Asn246Tyr) c.454A>T (p.Asn152Tyr) c.199A>T (p.Asn67Tyr) n.560A>T c.685A>T (p.Asn229Tyr) c.733A>T (p.Asn245Tyr) c.730A>T (p.Asn244Tyr) c.697A>T (p.Asn233Tyr) | |
| 3 | g.189864389dup | CA2759859264 | TP63 | c.737dup (p.Asn246LysfsTer3) c.455dup (p.Asn152LysfsTer3) c.200dup (p.Asn67LysfsTer3) n.561dup c.686dup (p.Asn229LysfsTer3) c.734dup (p.Asn245LysfsTer3) c.731dup (p.Asn244LysfsTer3) c.698dup (p.Asn233LysfsTer3) | |
| 3 | g.189864389A>C | CA355753764 | TP63 | c.737A>C (p.Asn246Thr) c.455A>C (p.Asn152Thr) c.200A>C (p.Asn67Thr) n.561A>C c.686A>C (p.Asn229Thr) c.734A>C (p.Asn245Thr) c.731A>C (p.Asn244Thr) c.698A>C (p.Asn233Thr) | |
| 3 | g.189864389A>G | CA355753765 | TP63 | c.737A>G (p.Asn246Ser) c.455A>G (p.Asn152Ser) c.200A>G (p.Asn67Ser) n.561A>G c.686A>G (p.Asn229Ser) c.734A>G (p.Asn245Ser) c.731A>G (p.Asn244Ser) c.698A>G (p.Asn233Ser) | |
| 3 | g.189864389A>T | CA355753767 | TP63 | c.737A>T (p.Asn246Ile) c.455A>T (p.Asn152Ile) c.200A>T (p.Asn67Ile) n.561A>T c.686A>T (p.Asn229Ile) c.734A>T (p.Asn245Ile) c.731A>T (p.Asn244Ile) c.698A>T (p.Asn233Ile) | |
| 3 | g.189864390C>A | CA355753770 | TP63 | c.738C>A (p.Asn246Lys) c.456C>A (p.Asn152Lys) c.201C>A (p.Asn67Lys) n.562C>A c.687C>A (p.Asn229Lys) c.735C>A (p.Asn245Lys) c.732C>A (p.Asn244Lys) c.699C>A (p.Asn233Lys) | |
| 3 | g.189864390C= | CA1428525457 | TP63 | c.738C= (p.Asn246=) c.456C= (p.Asn152=) c.201C= (p.Asn67=) n.562C= c.687C= (p.Asn229=) c.735C= (p.Asn245=) c.732C= (p.Asn244=) c.699C= (p.Asn233=) | |
| 3 | g.189864390C>G | CA355753768 | TP63 | c.738C>G (p.Asn246Lys) c.456C>G (p.Asn152Lys) c.201C>G (p.Asn67Lys) n.562C>G c.687C>G (p.Asn229Lys) c.735C>G (p.Asn245Lys) c.732C>G (p.Asn244Lys) c.699C>G (p.Asn233Lys) | ClinVar dbSNP |
| 3 | g.189864390C>T | CA437412967 | TP63 | c.738C>T (p.Asn246=) c.456C>T (p.Asn152=) c.201C>T (p.Asn67=) n.562C>T c.687C>T (p.Asn229=) c.735C>T (p.Asn245=) c.732C>T (p.Asn244=) c.699C>T (p.Asn233=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864390_189864391insACACCCAACA | CA2759859265 | TP63 | c.738_739insACACCCAACA (p.His247ThrfsTer5) c.456_457insACACCCAACA (p.His153ThrfsTer5) c.201_202insACACCCAACA (p.His68ThrfsTer5) n.562_563insACACCCAACA c.687_688insACACCCAACA (p.His230ThrfsTer5) c.735_736insACACCCAACA (p.His246ThrfsTer5) c.732_733insACACCCAACA (p.His245ThrfsTer5) c.699_700insACACCCAACA (p.His234ThrfsTer5) | |
| 3 | g.189864391C>A | CA355753771 | TP63 | c.739C>A (p.His247Asn) c.457C>A (p.His153Asn) c.202C>A (p.His68Asn) n.563C>A c.688C>A (p.His230Asn) c.736C>A (p.His246Asn) c.733C>A (p.His245Asn) c.700C>A (p.His234Asn) | |
| 3 | g.189864391C= | CA1428489406 | TP63 | c.739C= (p.His247=) c.457C= (p.His153=) c.202C= (p.His68=) n.563C= c.688C= (p.His230=) c.736C= (p.His246=) c.733C= (p.His245=) c.700C= (p.His234=) | |
| 3 | g.189864391C>G | CA355753775 | TP63 | c.739C>G (p.His247Asp) c.457C>G (p.His153Asp) c.202C>G (p.His68Asp) n.563C>G c.688C>G (p.His230Asp) c.736C>G (p.His246Asp) c.733C>G (p.His245Asp) c.700C>G (p.His234Asp) | ClinVar |
| 3 | g.189864391C>T | CA355753773 | TP63 | c.739C>T (p.His247Tyr) c.457C>T (p.His153Tyr) c.202C>T (p.His68Tyr) n.563C>T c.688C>T (p.His230Tyr) c.736C>T (p.His246Tyr) c.733C>T (p.His245Tyr) c.700C>T (p.His234Tyr) | ClinVar dbSNP |
| 3 | g.189864392A= | CA1428489417 | TP63 | c.740A= (p.His247=) c.458A= (p.His153=) c.203A= (p.His68=) n.564A= c.689A= (p.His230=) c.737A= (p.His246=) c.734A= (p.His245=) c.701A= (p.His234=) | |
| 3 | g.189864392A>C | CA355753777 | TP63 | c.740A>C (p.His247Pro) c.458A>C (p.His153Pro) c.203A>C (p.His68Pro) n.564A>C c.689A>C (p.His230Pro) c.737A>C (p.His246Pro) c.734A>C (p.His245Pro) c.701A>C (p.His234Pro) | |
| 3 | g.189864392A>G | CA339766 | TP63 | c.740A>G (p.His247Arg) c.458A>G (p.His153Arg) c.203A>G (p.His68Arg) n.564A>G c.689A>G (p.His230Arg) c.737A>G (p.His246Arg) c.734A>G (p.His245Arg) c.701A>G (p.His234Arg) | ClinVar dbSNP |
| 3 | g.189864392A>T | CA355753778 | TP63 | c.740A>T (p.His247Leu) c.458A>T (p.His153Leu) c.203A>T (p.His68Leu) n.564A>T c.689A>T (p.His230Leu) c.737A>T (p.His246Leu) c.734A>T (p.His245Leu) c.701A>T (p.His234Leu) | |
| 3 | g.189864393T>A | CA355753781 | TP63 | c.741T>A (p.His247Gln) c.459T>A (p.His153Gln) c.204T>A (p.His68Gln) n.565T>A c.690T>A (p.His230Gln) c.738T>A (p.His246Gln) c.735T>A (p.His245Gln) c.702T>A (p.His234Gln) | |
| 3 | g.189864393T>C | CA437412969 | TP63 | c.741T>C (p.His247=) c.459T>C (p.His153=) c.204T>C (p.His68=) n.565T>C c.690T>C (p.His230=) c.738T>C (p.His246=) c.735T>C (p.His245=) c.702T>C (p.His234=) | |
| 3 | g.189864393T>G | CA355753782 | TP63 | c.741T>G (p.His247Gln) c.459T>G (p.His153Gln) c.204T>G (p.His68Gln) n.565T>G c.690T>G (p.His230Gln) c.738T>G (p.His246Gln) c.735T>G (p.His245Gln) c.702T>G (p.His234Gln) | |
| 3 | g.189864394G>A | CA355753785 | TP63 | c.742G>A (p.Glu248Lys) c.460G>A (p.Glu154Lys) c.205G>A (p.Glu69Lys) n.566G>A c.691G>A (p.Glu231Lys) c.739G>A (p.Glu247Lys) c.736G>A (p.Glu246Lys) c.703G>A (p.Glu235Lys) | gnomAD v4 |
| 3 | g.189864394G>C | CA355753788 | TP63 | c.742G>C (p.Glu248Gln) c.460G>C (p.Glu154Gln) c.205G>C (p.Glu69Gln) n.566G>C c.691G>C (p.Glu231Gln) c.739G>C (p.Glu247Gln) c.736G>C (p.Glu246Gln) c.703G>C (p.Glu235Gln) | |
| 3 | g.189864394G>T | CA355753786 | TP63 | c.742G>T (p.Glu248Ter) c.460G>T (p.Glu154Ter) c.205G>T (p.Glu69Ter) n.566G>T c.691G>T (p.Glu231Ter) c.739G>T (p.Glu247Ter) c.736G>T (p.Glu246Ter) c.703G>T (p.Glu235Ter) | |
| 3 | g.189864395A>C | CA355753789 | TP63 | c.743A>C (p.Glu248Ala) c.461A>C (p.Glu154Ala) c.206A>C (p.Glu69Ala) n.567A>C c.692A>C (p.Glu231Ala) c.740A>C (p.Glu247Ala) c.737A>C (p.Glu246Ala) c.704A>C (p.Glu235Ala) | |
| 3 | g.189864395A>G | CA355753791 | TP63 | c.743A>G (p.Glu248Gly) c.461A>G (p.Glu154Gly) c.206A>G (p.Glu69Gly) n.567A>G c.692A>G (p.Glu231Gly) c.740A>G (p.Glu247Gly) c.737A>G (p.Glu246Gly) c.704A>G (p.Glu235Gly) | |
| 3 | g.189864395A>T | CA355753792 | TP63 | c.743A>T (p.Glu248Val) c.461A>T (p.Glu154Val) c.206A>T (p.Glu69Val) n.567A>T c.692A>T (p.Glu231Val) c.740A>T (p.Glu247Val) c.737A>T (p.Glu246Val) c.704A>T (p.Glu235Val) | |
| 3 | g.189864396G>A | CA437412971 | TP63 | c.744G>A (p.Glu248=) c.462G>A (p.Glu154=) c.207G>A (p.Glu69=) n.568G>A c.693G>A (p.Glu231=) c.741G>A (p.Glu247=) c.738G>A (p.Glu246=) c.705G>A (p.Glu235=) | dbSNP |
| 3 | g.189864396G>C | CA355753794 | TP63 | c.744G>C (p.Glu248Asp) c.462G>C (p.Glu154Asp) c.207G>C (p.Glu69Asp) n.568G>C c.693G>C (p.Glu231Asp) c.741G>C (p.Glu247Asp) c.738G>C (p.Glu246Asp) c.705G>C (p.Glu235Asp) | |
| 3 | g.189864396G>T | CA355753796 | TP63 | c.744G>T (p.Glu248Asp) c.462G>T (p.Glu154Asp) c.207G>T (p.Glu69Asp) n.568G>T c.693G>T (p.Glu231Asp) c.741G>T (p.Glu247Asp) c.738G>T (p.Glu246Asp) c.705G>T (p.Glu235Asp) | |
| 3 | g.189864397C>A | CA355753797 | TP63 | c.745C>A (p.Leu249Met) c.463C>A (p.Leu155Met) c.208C>A (p.Leu70Met) n.569C>A c.694C>A (p.Leu232Met) c.742C>A (p.Leu248Met) c.739C>A (p.Leu247Met) c.706C>A (p.Leu236Met) | |
| 3 | g.189864397C>G | CA355753798 | TP63 | c.745C>G (p.Leu249Val) c.463C>G (p.Leu155Val) c.208C>G (p.Leu70Val) n.569C>G c.694C>G (p.Leu232Val) c.742C>G (p.Leu248Val) c.739C>G (p.Leu247Val) c.706C>G (p.Leu236Val) | |
| 3 | g.189864397C>T | CA437412972 | TP63 | c.745C>T (p.Leu249=) c.463C>T (p.Leu155=) c.208C>T (p.Leu70=) n.569C>T c.694C>T (p.Leu232=) c.742C>T (p.Leu248=) c.739C>T (p.Leu247=) c.706C>T (p.Leu236=) | |
| 3 | g.189864398T>A | CA355753800 | TP63 | c.746T>A (p.Leu249Gln) c.464T>A (p.Leu155Gln) c.209T>A (p.Leu70Gln) n.570T>A c.695T>A (p.Leu232Gln) c.743T>A (p.Leu248Gln) c.740T>A (p.Leu247Gln) c.707T>A (p.Leu236Gln) | |
| 3 | g.189864398T>C | CA355753801 | TP63 | c.746T>C (p.Leu249Pro) c.464T>C (p.Leu155Pro) c.209T>C (p.Leu70Pro) n.570T>C c.695T>C (p.Leu232Pro) c.743T>C (p.Leu248Pro) c.740T>C (p.Leu247Pro) c.707T>C (p.Leu236Pro) | |
| 3 | g.189864398T>G | CA355753803 | TP63 | c.746T>G (p.Leu249Arg) c.464T>G (p.Leu155Arg) c.209T>G (p.Leu70Arg) n.570T>G c.695T>G (p.Leu232Arg) c.743T>G (p.Leu248Arg) c.740T>G (p.Leu247Arg) c.707T>G (p.Leu236Arg) | |
| 3 | g.189864399G>A | CA437412975 | TP63 | c.747G>A (p.Leu249=) c.465G>A (p.Leu155=) c.210G>A (p.Leu70=) n.571G>A c.696G>A (p.Leu232=) c.744G>A (p.Leu248=) c.741G>A (p.Leu247=) c.708G>A (p.Leu236=) | |
| 3 | g.189864399G>C | CA437412977 | TP63 | c.747G>C (p.Leu249=) c.465G>C (p.Leu155=) c.210G>C (p.Leu70=) n.571G>C c.696G>C (p.Leu232=) c.744G>C (p.Leu248=) c.741G>C (p.Leu247=) c.708G>C (p.Leu236=) | |
| 3 | g.189864399G>T | CA437412976 | TP63 | c.747G>T (p.Leu249=) c.465G>T (p.Leu155=) c.210G>T (p.Leu70=) n.571G>T c.696G>T (p.Leu232=) c.744G>T (p.Leu248=) c.741G>T (p.Leu247=) c.708G>T (p.Leu236=) | |
| 3 | g.189864400A>C | CA355753805 | TP63 | c.748A>C (p.Ser250Arg) c.466A>C (p.Ser156Arg) c.211A>C (p.Ser71Arg) n.572A>C c.697A>C (p.Ser233Arg) c.745A>C (p.Ser249Arg) c.742A>C (p.Ser248Arg) c.709A>C (p.Ser237Arg) | |
| 3 | g.189864400A>G | CA355753806 | TP63 | c.748A>G (p.Ser250Gly) c.466A>G (p.Ser156Gly) c.211A>G (p.Ser71Gly) n.572A>G c.697A>G (p.Ser233Gly) c.745A>G (p.Ser249Gly) c.742A>G (p.Ser248Gly) c.709A>G (p.Ser237Gly) | |
| 3 | g.189864400A>T | CA355753808 | TP63 | c.748A>T (p.Ser250Cys) c.466A>T (p.Ser156Cys) c.211A>T (p.Ser71Cys) n.572A>T c.697A>T (p.Ser233Cys) c.745A>T (p.Ser249Cys) c.742A>T (p.Ser248Cys) c.709A>T (p.Ser237Cys) | |
| 3 | g.189864401G>A | CA355753810 | TP63 | c.749G>A (p.Ser250Asn) c.467G>A (p.Ser156Asn) c.212G>A (p.Ser71Asn) n.573G>A c.698G>A (p.Ser233Asn) c.746G>A (p.Ser249Asn) c.743G>A (p.Ser248Asn) c.710G>A (p.Ser237Asn) | gnomAD v4 |
| 3 | g.189864401G>C | CA355753813 | TP63 | c.749G>C (p.Ser250Thr) c.467G>C (p.Ser156Thr) c.212G>C (p.Ser71Thr) n.573G>C c.698G>C (p.Ser233Thr) c.746G>C (p.Ser249Thr) c.743G>C (p.Ser248Thr) c.710G>C (p.Ser237Thr) | |
| 3 | g.189864401G>T | CA355753812 | TP63 | c.749G>T (p.Ser250Ile) c.467G>T (p.Ser156Ile) c.212G>T (p.Ser71Ile) n.573G>T c.698G>T (p.Ser233Ile) c.746G>T (p.Ser249Ile) c.743G>T (p.Ser248Ile) c.710G>T (p.Ser237Ile) | |
| 3 | g.189864402C>A | CA355753815 | TP63 | c.750C>A (p.Ser250Arg) c.468C>A (p.Ser156Arg) c.213C>A (p.Ser71Arg) n.574C>A c.699C>A (p.Ser233Arg) c.747C>A (p.Ser249Arg) c.744C>A (p.Ser248Arg) c.711C>A (p.Ser237Arg) | |
| 3 | g.189864402C= | CA1428489423 | TP63 | c.750C= (p.Ser250=) c.468C= (p.Ser156=) c.213C= (p.Ser71=) n.574C= c.699C= (p.Ser233=) c.747C= (p.Ser249=) c.744C= (p.Ser248=) c.711C= (p.Ser237=) | |
| 3 | g.189864402C>G | CA355753817 | TP63 | c.750C>G (p.Ser250Arg) c.468C>G (p.Ser156Arg) c.213C>G (p.Ser71Arg) n.574C>G c.699C>G (p.Ser233Arg) c.747C>G (p.Ser249Arg) c.744C>G (p.Ser248Arg) c.711C>G (p.Ser237Arg) | |
| 3 | g.189864402C>T | CA2752232 | TP63 | c.750C>T (p.Ser250=) c.468C>T (p.Ser156=) c.213C>T (p.Ser71=) n.574C>T c.699C>T (p.Ser233=) c.747C>T (p.Ser249=) c.744C>T (p.Ser248=) c.711C>T (p.Ser237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189864403C>A | CA355753819 | TP63 | c.751C>A (p.Arg251Ser) c.469C>A (p.Arg157Ser) c.214C>A (p.Arg72Ser) n.575C>A c.700C>A (p.Arg234Ser) c.748C>A (p.Arg250Ser) c.745C>A (p.Arg249Ser) c.712C>A (p.Arg238Ser) | |
| 3 | g.189864403C>G | CA355753821 | TP63 | c.751C>G (p.Arg251Gly) c.469C>G (p.Arg157Gly) c.214C>G (p.Arg72Gly) n.575C>G c.700C>G (p.Arg234Gly) c.748C>G (p.Arg250Gly) c.745C>G (p.Arg249Gly) c.712C>G (p.Arg238Gly) | |
| 3 | g.189864403C>T | CA355753823 | TP63 | c.751C>T (p.Arg251Cys) c.469C>T (p.Arg157Cys) c.214C>T (p.Arg72Cys) n.575C>T c.700C>T (p.Arg234Cys) c.748C>T (p.Arg250Cys) c.745C>T (p.Arg249Cys) c.712C>T (p.Arg238Cys) | gnomAD v4 |
| 3 | g.189864404G>A | CA355753825 | TP63 | c.752G>A (p.Arg251His) c.470G>A (p.Arg157His) c.215G>A (p.Arg72His) n.576G>A c.701G>A (p.Arg234His) c.749G>A (p.Arg250His) c.746G>A (p.Arg249His) c.713G>A (p.Arg238His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189864404G>C | CA355753826 | TP63 | c.752G>C (p.Arg251Pro) c.470G>C (p.Arg157Pro) c.215G>C (p.Arg72Pro) n.576G>C c.701G>C (p.Arg234Pro) c.749G>C (p.Arg250Pro) c.746G>C (p.Arg249Pro) c.713G>C (p.Arg238Pro) | |
| 3 | g.189864404G= | CA1428489427 | TP63 | c.752G= (p.Arg251=) c.470G= (p.Arg157=) c.215G= (p.Arg72=) n.576G= c.701G= (p.Arg234=) c.749G= (p.Arg250=) c.746G= (p.Arg249=) c.713G= (p.Arg238=) | |
| 3 | g.189864404G>T | CA355753828 | TP63 | c.752G>T (p.Arg251Leu) c.470G>T (p.Arg157Leu) c.215G>T (p.Arg72Leu) n.576G>T c.701G>T (p.Arg234Leu) c.749G>T (p.Arg250Leu) c.746G>T (p.Arg249Leu) c.713G>T (p.Arg238Leu) | |
| 3 | g.189864405T>A | CA437412982 | TP63 | c.753T>A (p.Arg251=) c.471T>A (p.Arg157=) c.216T>A (p.Arg72=) n.577T>A c.702T>A (p.Arg234=) c.750T>A (p.Arg250=) c.747T>A (p.Arg249=) c.714T>A (p.Arg238=) | |
| 3 | g.189864405T>C | CA2752233 | TP63 | c.753T>C (p.Arg251=) c.471T>C (p.Arg157=) c.216T>C (p.Arg72=) n.577T>C c.702T>C (p.Arg234=) c.750T>C (p.Arg250=) c.747T>C (p.Arg249=) c.714T>C (p.Arg238=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864405T>G | CA437412983 | TP63 | c.753T>G (p.Arg251=) c.471T>G (p.Arg157=) c.216T>G (p.Arg72=) n.577T>G c.702T>G (p.Arg234=) c.750T>G (p.Arg250=) c.747T>G (p.Arg249=) c.714T>G (p.Arg238=) | |
| 3 | g.189864405T= | CA1428489429 | TP63 | c.753T= (p.Arg251=) c.471T= (p.Arg157=) c.216T= (p.Arg72=) n.577T= c.702T= (p.Arg234=) c.750T= (p.Arg250=) c.747T= (p.Arg249=) c.714T= (p.Arg238=) | |
| 3 | g.189864406G>A | CA355753832 | TP63 | c.754G>A (p.Glu252Lys) c.472G>A (p.Glu158Lys) c.217G>A (p.Glu73Lys) n.578G>A c.703G>A (p.Glu235Lys) c.751G>A (p.Glu251Lys) c.748G>A (p.Glu250Lys) c.715G>A (p.Glu239Lys) | |
| 3 | g.189864406G>C | CA355753831 | TP63 | c.754G>C (p.Glu252Gln) c.472G>C (p.Glu158Gln) c.217G>C (p.Glu73Gln) n.578G>C c.703G>C (p.Glu235Gln) c.751G>C (p.Glu251Gln) c.748G>C (p.Glu250Gln) c.715G>C (p.Glu239Gln) | |
| 3 | g.189864406G>T | CA355753830 | TP63 | c.754G>T (p.Glu252Ter) c.472G>T (p.Glu158Ter) c.217G>T (p.Glu73Ter) n.578G>T c.703G>T (p.Glu235Ter) c.751G>T (p.Glu251Ter) c.748G>T (p.Glu250Ter) c.715G>T (p.Glu239Ter) | |
| 3 | g.189864407A>C | CA355753834 | TP63 | c.755A>C (p.Glu252Ala) c.473A>C (p.Glu158Ala) c.218A>C (p.Glu73Ala) n.579A>C c.704A>C (p.Glu235Ala) c.752A>C (p.Glu251Ala) c.749A>C (p.Glu250Ala) c.716A>C (p.Glu239Ala) | |
| 3 | g.189864407A>G | CA355753835 | TP63 | c.755A>G (p.Glu252Gly) c.473A>G (p.Glu158Gly) c.218A>G (p.Glu73Gly) n.579A>G c.704A>G (p.Glu235Gly) c.752A>G (p.Glu251Gly) c.749A>G (p.Glu250Gly) c.716A>G (p.Glu239Gly) | |
| 3 | g.189864407A>T | CA355753837 | TP63 | c.755A>T (p.Glu252Val) c.473A>T (p.Glu158Val) c.218A>T (p.Glu73Val) n.579A>T c.704A>T (p.Glu235Val) c.752A>T (p.Glu251Val) c.749A>T (p.Glu250Val) c.716A>T (p.Glu239Val) | |
| 3 | g.189864408A>C | CA355753839 | TP63 | c.756A>C (p.Glu252Asp) c.474A>C (p.Glu158Asp) c.219A>C (p.Glu73Asp) n.580A>C c.705A>C (p.Glu235Asp) c.753A>C (p.Glu251Asp) c.750A>C (p.Glu250Asp) c.717A>C (p.Glu239Asp) | |
| 3 | g.189864408A>G | CA437412988 | TP63 | c.756A>G (p.Glu252=) c.474A>G (p.Glu158=) c.219A>G (p.Glu73=) n.580A>G c.705A>G (p.Glu235=) c.753A>G (p.Glu251=) c.750A>G (p.Glu250=) c.717A>G (p.Glu239=) | |
| 3 | g.189864408A>T | CA355753840 | TP63 | c.756A>T (p.Glu252Asp) c.474A>T (p.Glu158Asp) c.219A>T (p.Glu73Asp) n.580A>T c.705A>T (p.Glu235Asp) c.753A>T (p.Glu251Asp) c.750A>T (p.Glu250Asp) c.717A>T (p.Glu239Asp) | |
| 3 | g.189864409T>A | CA355753843 | TP63 | c.757T>A (p.Phe253Ile) c.475T>A (p.Phe159Ile) c.220T>A (p.Phe74Ile) n.581T>A c.706T>A (p.Phe236Ile) c.754T>A (p.Phe252Ile) c.751T>A (p.Phe251Ile) c.718T>A (p.Phe240Ile) | |
| 3 | g.189864409T>C | CA355753844 | TP63 | c.757T>C (p.Phe253Leu) c.475T>C (p.Phe159Leu) c.220T>C (p.Phe74Leu) n.581T>C c.706T>C (p.Phe236Leu) c.754T>C (p.Phe252Leu) c.751T>C (p.Phe251Leu) c.718T>C (p.Phe240Leu) | |
| 3 | g.189864409T>G | CA355753845 | TP63 | c.757T>G (p.Phe253Val) c.475T>G (p.Phe159Val) c.220T>G (p.Phe74Val) n.581T>G c.706T>G (p.Phe236Val) c.754T>G (p.Phe252Val) c.751T>G (p.Phe251Val) c.718T>G (p.Phe240Val) | |
| 3 | g.189864410T>A | CA355753848 | TP63 | c.758T>A (p.Phe253Tyr) c.476T>A (p.Phe159Tyr) c.221T>A (p.Phe74Tyr) n.582T>A c.707T>A (p.Phe236Tyr) c.755T>A (p.Phe252Tyr) c.752T>A (p.Phe251Tyr) c.719T>A (p.Phe240Tyr) | |
| 3 | g.189864410T>C | CA355753850 | TP63 | c.758T>C (p.Phe253Ser) c.476T>C (p.Phe159Ser) c.221T>C (p.Phe74Ser) n.582T>C c.707T>C (p.Phe236Ser) c.755T>C (p.Phe252Ser) c.752T>C (p.Phe251Ser) c.719T>C (p.Phe240Ser) | |
| 3 | g.189864410T>G | CA355753851 | TP63 | c.758T>G (p.Phe253Cys) c.476T>G (p.Phe159Cys) c.221T>G (p.Phe74Cys) n.582T>G c.707T>G (p.Phe236Cys) c.755T>G (p.Phe252Cys) c.752T>G (p.Phe251Cys) c.719T>G (p.Phe240Cys) | |
| 3 | g.189864411C>A | CA355753853 | TP63 | c.759C>A (p.Phe253Leu) c.477C>A (p.Phe159Leu) c.222C>A (p.Phe74Leu) n.583C>A c.708C>A (p.Phe236Leu) c.756C>A (p.Phe252Leu) c.753C>A (p.Phe251Leu) c.720C>A (p.Phe240Leu) | |
| 3 | g.189864411C>G | CA355753855 | TP63 | c.759C>G (p.Phe253Leu) c.477C>G (p.Phe159Leu) c.222C>G (p.Phe74Leu) n.583C>G c.708C>G (p.Phe236Leu) c.756C>G (p.Phe252Leu) c.753C>G (p.Phe251Leu) c.720C>G (p.Phe240Leu) | |
| 3 | g.189864411C>T | CA437412990 | TP63 | c.759C>T (p.Phe253=) c.477C>T (p.Phe159=) c.222C>T (p.Phe74=) n.583C>T c.708C>T (p.Phe236=) c.756C>T (p.Phe252=) c.753C>T (p.Phe251=) c.720C>T (p.Phe240=) | |
| 3 | g.189864412A>C | CA355753859 | TP63 | c.760A>C (p.Asn254His) c.478A>C (p.Asn160His) c.223A>C (p.Asn75His) n.584A>C c.709A>C (p.Asn237His) c.757A>C (p.Asn253His) c.754A>C (p.Asn252His) c.721A>C (p.Asn241His) | |
| 3 | g.189864412A>G | CA355753857 | TP63 | c.760A>G (p.Asn254Asp) c.478A>G (p.Asn160Asp) c.223A>G (p.Asn75Asp) n.584A>G c.709A>G (p.Asn237Asp) c.757A>G (p.Asn253Asp) c.754A>G (p.Asn252Asp) c.721A>G (p.Asn241Asp) | |
| 3 | g.189864412A>T | CA355753858 | TP63 | c.760A>T (p.Asn254Tyr) c.478A>T (p.Asn160Tyr) c.223A>T (p.Asn75Tyr) n.584A>T c.709A>T (p.Asn237Tyr) c.757A>T (p.Asn253Tyr) c.754A>T (p.Asn252Tyr) c.721A>T (p.Asn241Tyr) | |
| 3 | g.189864413A>C | CA355753861 | TP63 | c.761A>C (p.Asn254Thr) c.479A>C (p.Asn160Thr) c.224A>C (p.Asn75Thr) n.585A>C c.710A>C (p.Asn237Thr) c.758A>C (p.Asn253Thr) c.755A>C (p.Asn252Thr) c.722A>C (p.Asn241Thr) | |
| 3 | g.189864413A>G | CA355753862 | TP63 | c.761A>G (p.Asn254Ser) c.479A>G (p.Asn160Ser) c.224A>G (p.Asn75Ser) n.585A>G c.710A>G (p.Asn237Ser) c.758A>G (p.Asn253Ser) c.755A>G (p.Asn252Ser) c.722A>G (p.Asn241Ser) | |
| 3 | g.189864413A>T | CA355753864 | TP63 | c.761A>T (p.Asn254Ile) c.479A>T (p.Asn160Ile) c.224A>T (p.Asn75Ile) n.585A>T c.710A>T (p.Asn237Ile) c.758A>T (p.Asn253Ile) c.755A>T (p.Asn252Ile) c.722A>T (p.Asn241Ile) | |
| 3 | g.189864414C>A | CA355753866 | TP63 | c.762C>A (p.Asn254Lys) c.480C>A (p.Asn160Lys) c.225C>A (p.Asn75Lys) n.586C>A c.711C>A (p.Asn237Lys) c.759C>A (p.Asn253Lys) c.756C>A (p.Asn252Lys) c.723C>A (p.Asn241Lys) | |
| 3 | g.189864414C= | CA1428489454 | TP63 | c.762C= (p.Asn254=) c.480C= (p.Asn160=) c.225C= (p.Asn75=) n.586C= c.711C= (p.Asn237=) c.759C= (p.Asn253=) c.756C= (p.Asn252=) c.723C= (p.Asn241=) | |
| 3 | g.189864414C>G | CA355753867 | TP63 | c.762C>G (p.Asn254Lys) c.480C>G (p.Asn160Lys) c.225C>G (p.Asn75Lys) n.586C>G c.711C>G (p.Asn237Lys) c.759C>G (p.Asn253Lys) c.756C>G (p.Asn252Lys) c.723C>G (p.Asn241Lys) | |
| 3 | g.189864414C>T | CA2752234 | TP63 | c.762C>T (p.Asn254=) c.480C>T (p.Asn160=) c.225C>T (p.Asn75=) n.586C>T c.711C>T (p.Asn237=) c.759C>T (p.Asn253=) c.756C>T (p.Asn252=) c.723C>T (p.Asn241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189864415G>A | CA355753869 | TP63 | c.763G>A (p.Glu255Lys) c.481G>A (p.Glu161Lys) c.226G>A (p.Glu76Lys) n.587G>A c.712G>A (p.Glu238Lys) c.760G>A (p.Glu254Lys) c.757G>A (p.Glu253Lys) c.724G>A (p.Glu242Lys) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.189864415G>C | CA355753870 | TP63 | c.763G>C (p.Glu255Gln) c.481G>C (p.Glu161Gln) c.226G>C (p.Glu76Gln) n.587G>C c.712G>C (p.Glu238Gln) c.760G>C (p.Glu254Gln) c.757G>C (p.Glu253Gln) c.724G>C (p.Glu242Gln) | |
| 3 | g.189864415G>T | CA355753872 | TP63 | c.763G>T (p.Glu255Ter) c.481G>T (p.Glu161Ter) c.226G>T (p.Glu76Ter) n.587G>T c.712G>T (p.Glu238Ter) c.760G>T (p.Glu254Ter) c.757G>T (p.Glu253Ter) c.724G>T (p.Glu242Ter) | |
| 3 | g.189864416A>C | CA355753874 | TP63 | c.764A>C (p.Glu255Ala) c.482A>C (p.Glu161Ala) c.227A>C (p.Glu76Ala) n.588A>C c.713A>C (p.Glu238Ala) c.761A>C (p.Glu254Ala) c.758A>C (p.Glu253Ala) c.725A>C (p.Glu242Ala) | |
| 3 | g.189864416A>G | CA355753875 | TP63 | c.764A>G (p.Glu255Gly) c.482A>G (p.Glu161Gly) c.227A>G (p.Glu76Gly) n.588A>G c.713A>G (p.Glu238Gly) c.761A>G (p.Glu254Gly) c.758A>G (p.Glu253Gly) c.725A>G (p.Glu242Gly) | |
| 3 | g.189864416A>T | CA355753876 | TP63 | c.764A>T (p.Glu255Val) c.482A>T (p.Glu161Val) c.227A>T (p.Glu76Val) n.588A>T c.713A>T (p.Glu238Val) c.761A>T (p.Glu254Val) c.758A>T (p.Glu253Val) c.725A>T (p.Glu242Val) | |
| 3 | g.189864417G>A | CA437412995 | TP63 | c.765G>A (p.Glu255=) c.483G>A (p.Glu161=) c.228G>A (p.Glu76=) n.589G>A c.714G>A (p.Glu238=) c.762G>A (p.Glu254=) c.759G>A (p.Glu253=) c.726G>A (p.Glu242=) | |
| 3 | g.189864417G>C | CA355753878 | TP63 | c.765G>C (p.Glu255Asp) c.483G>C (p.Glu161Asp) c.228G>C (p.Glu76Asp) n.589G>C c.714G>C (p.Glu238Asp) c.762G>C (p.Glu254Asp) c.759G>C (p.Glu253Asp) c.726G>C (p.Glu242Asp) | |
| 3 | g.189864417G>T | CA355753880 | TP63 | c.765G>T (p.Glu255Asp) c.483G>T (p.Glu161Asp) c.228G>T (p.Glu76Asp) n.589G>T c.714G>T (p.Glu238Asp) c.762G>T (p.Glu254Asp) c.759G>T (p.Glu253Asp) c.726G>T (p.Glu242Asp) | |
| 3 | g.189864418G>A | CA355753881 | TP63 | c.766G>A (p.Gly256Arg) c.484G>A (p.Gly162Arg) c.229G>A (p.Gly77Arg) n.590G>A c.715G>A (p.Gly239Arg) c.763G>A (p.Gly255Arg) c.760G>A (p.Gly254Arg) c.727G>A (p.Gly243Arg) | |
| 3 | g.189864418G>C | CA355753885 | TP63 | c.766G>C (p.Gly256Arg) c.484G>C (p.Gly162Arg) c.229G>C (p.Gly77Arg) n.590G>C c.715G>C (p.Gly239Arg) c.763G>C (p.Gly255Arg) c.760G>C (p.Gly254Arg) c.727G>C (p.Gly243Arg) | |
| 3 | g.189864418G>T | CA355753883 | TP63 | c.766G>T (p.Gly256Ter) c.484G>T (p.Gly162Ter) c.229G>T (p.Gly77Ter) n.590G>T c.715G>T (p.Gly239Ter) c.763G>T (p.Gly255Ter) c.760G>T (p.Gly254Ter) c.727G>T (p.Gly243Ter) | |
| 3 | g.189864419G>A | CA355753887 | TP63 | c.766+1G>A (n.766+1G>A) c.484+1G>A (n.484+1G>A) c.229+1G>A (n.229+1G>A) n.590+1G>A c.715+1G>A (n.715+1G>A) c.763+1G>A (n.763+1G>A) c.760+1G>A (n.760+1G>A) c.727+1G>A (n.727+1G>A) | COSMIC |
| 3 | g.189864419G>C | CA355753888 | TP63 | c.766+1G>C (n.766+1G>C) c.484+1G>C (n.484+1G>C) c.229+1G>C (n.229+1G>C) n.590+1G>C c.715+1G>C (n.715+1G>C) c.763+1G>C (n.763+1G>C) c.760+1G>C (n.760+1G>C) c.727+1G>C (n.727+1G>C) | |
| 3 | g.189864419G= | CA1428489456 | TP63 | c.766+1G= (n.766+1G=) c.484+1G= (n.484+1G=) c.229+1G= (n.229+1G=) n.590+1G= c.715+1G= (n.715+1G=) c.763+1G= (n.763+1G=) c.760+1G= (n.760+1G=) c.727+1G= (n.727+1G=) | |
| 3 | g.189864419G>T | CA355753889 | TP63 | c.766+1G>T (n.766+1G>T) c.484+1G>T (n.484+1G>T) c.229+1G>T (n.229+1G>T) n.590+1G>T c.715+1G>T (n.715+1G>T) c.763+1G>T (n.763+1G>T) c.760+1G>T (n.760+1G>T) c.727+1G>T (n.727+1G>T) | dbSNP |
| 3 | g.189864420T>A | CA355753890 | TP63 | c.766+2T>A (n.766+2T>A) c.484+2T>A (n.484+2T>A) c.229+2T>A (n.229+2T>A) n.590+2T>A c.715+2T>A (n.715+2T>A) c.763+2T>A (n.763+2T>A) c.760+2T>A (n.760+2T>A) c.727+2T>A (n.727+2T>A) | |
| 3 | g.189864420T>C | CA355753891 | TP63 | c.766+2T>C (n.766+2T>C) c.484+2T>C (n.484+2T>C) c.229+2T>C (n.229+2T>C) n.590+2T>C c.715+2T>C (n.715+2T>C) c.763+2T>C (n.763+2T>C) c.760+2T>C (n.760+2T>C) c.727+2T>C (n.727+2T>C) | |
| 3 | g.189864420T>G | CA355753893 | TP63 | c.766+2T>G (n.766+2T>G) c.484+2T>G (n.484+2T>G) c.229+2T>G (n.229+2T>G) n.590+2T>G c.715+2T>G (n.715+2T>G) c.763+2T>G (n.763+2T>G) c.760+2T>G (n.760+2T>G) c.727+2T>G (n.727+2T>G) | |
| 3 | g.189864421A= | CA1428489460 | TP63 | c.766+3A= (n.766+3A=) c.484+3A= (n.484+3A=) c.229+3A= (n.229+3A=) n.590+3A= c.715+3A= (n.715+3A=) c.763+3A= (n.763+3A=) c.760+3A= (n.760+3A=) c.727+3A= (n.727+3A=) | |
| 3 | g.189864421A>G | CA10615402 | TP63 | c.766+3A>G (n.766+3A>G) c.484+3A>G (n.484+3A>G) c.229+3A>G (n.229+3A>G) n.590+3A>G c.715+3A>G (n.715+3A>G) c.763+3A>G (n.763+3A>G) c.760+3A>G (n.760+3A>G) c.727+3A>G (n.727+3A>G) | ClinVar dbSNP |
| 3 | g.189864423G>A | CA2752235 | TP63 | c.766+5G>A (n.766+5G>A) c.484+5G>A (n.484+5G>A) c.229+5G>A (n.229+5G>A) n.590+5G>A c.715+5G>A (n.715+5G>A) c.763+5G>A (n.763+5G>A) c.760+5G>A (n.760+5G>A) c.727+5G>A (n.727+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864423G= | CA1428489483 | TP63 | c.766+5G= (n.766+5G=) c.484+5G= (n.484+5G=) c.229+5G= (n.229+5G=) n.590+5G= c.715+5G= (n.715+5G=) c.763+5G= (n.763+5G=) c.760+5G= (n.760+5G=) c.727+5G= (n.727+5G=) | |
| 3 | g.189864425_189864431delinsAGAATTT | CA1428489490 | TP63 | c.766+7_766+13delinsAGAATTT (n.766+7_766+13delinsAGAATTT) c.484+7_484+13delinsAGAATTT (n.484+7_484+13delinsAGAATTT) c.229+7_229+13delinsAGAATTT (n.229+7_229+13delinsAGAATTT) n.590+7_590+13delinsAGAATTT c.715+7_715+13delinsAGAATTT (n.715+7_715+13delinsAGAATTT) c.763+7_763+13delinsAGAATTT (n.763+7_763+13delinsAGAATTT) c.760+7_760+13delinsAGAATTT (n.760+7_760+13delinsAGAATTT) c.727+7_727+13delinsAGAATTT (n.727+7_727+13delinsAGAATTT) | |
| 3 | g.189864426G>A | CA2669041946 | TP63 | c.766+8G>A (n.766+8G>A) c.484+8G>A (n.484+8G>A) c.229+8G>A (n.229+8G>A) n.590+8G>A c.715+8G>A (n.715+8G>A) c.763+8G>A (n.763+8G>A) c.760+8G>A (n.760+8G>A) c.727+8G>A (n.727+8G>A) | gnomAD v4 |
| 3 | g.189864430_189864435del | CA1428489492 | TP63 | c.766+12_766+17del (n.766+12_766+17del) c.484+12_484+17del (n.484+12_484+17del) c.229+12_229+17del (n.229+12_229+17del) n.590+12_590+17del c.715+12_715+17del (n.715+12_715+17del) c.763+12_763+17del (n.763+12_763+17del) c.760+12_760+17del (n.760+12_760+17del) c.727+12_727+17del (n.727+12_727+17del) | dbSNP |
| 3 | g.189864429T>C | CA2752236 | TP63 | c.766+11T>C (n.766+11T>C) c.484+11T>C (n.484+11T>C) c.229+11T>C (n.229+11T>C) n.590+11T>C c.715+11T>C (n.715+11T>C) c.763+11T>C (n.763+11T>C) c.760+11T>C (n.760+11T>C) c.727+11T>C (n.727+11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864429T= | CA1428489495 | TP63 | c.766+11T= (n.766+11T=) c.484+11T= (n.484+11T=) c.229+11T= (n.229+11T=) n.590+11T= c.715+11T= (n.715+11T=) c.763+11T= (n.763+11T=) c.760+11T= (n.760+11T=) c.727+11T= (n.727+11T=) | |
| 3 | g.189864431T>A | CA1057637969 | TP63 | c.766+13T>A (n.766+13T>A) c.484+13T>A (n.484+13T>A) c.229+13T>A (n.229+13T>A) n.590+13T>A c.715+13T>A (n.715+13T>A) c.763+13T>A (n.763+13T>A) c.760+13T>A (n.760+13T>A) c.727+13T>A (n.727+13T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189864431T= | CA1428489498 | TP63 | c.766+13T= (n.766+13T=) c.484+13T= (n.484+13T=) c.229+13T= (n.229+13T=) n.590+13T= c.715+13T= (n.715+13T=) c.763+13T= (n.763+13T=) c.760+13T= (n.760+13T=) c.727+13T= (n.727+13T=) | |
| 3 | g.189864432G>A | CA2669041947 | TP63 | c.766+14G>A (n.766+14G>A) c.484+14G>A (n.484+14G>A) c.229+14G>A (n.229+14G>A) n.590+14G>A c.715+14G>A (n.715+14G>A) c.763+14G>A (n.763+14G>A) c.760+14G>A (n.760+14G>A) c.727+14G>A (n.727+14G>A) | gnomAD v4 |
| 3 | g.189864432G>C | CA2669041948 | TP63 | c.766+14G>C (n.766+14G>C) c.484+14G>C (n.484+14G>C) c.229+14G>C (n.229+14G>C) n.590+14G>C c.715+14G>C (n.715+14G>C) c.763+14G>C (n.763+14G>C) c.760+14G>C (n.760+14G>C) c.727+14G>C (n.727+14G>C) | gnomAD v4 |
| 3 | g.189864433A>G | CA2669041949 | TP63 | c.766+15A>G (n.766+15A>G) c.484+15A>G (n.484+15A>G) c.229+15A>G (n.229+15A>G) n.590+15A>G c.715+15A>G (n.715+15A>G) c.763+15A>G (n.763+15A>G) c.760+15A>G (n.760+15A>G) c.727+15A>G (n.727+15A>G) | gnomAD v4 |
| 3 | g.189864434A= | CA1428489500 | TP63 | c.766+16A= (n.766+16A=) c.484+16A= (n.484+16A=) c.229+16A= (n.229+16A=) n.590+16A= c.715+16A= (n.715+16A=) c.763+16A= (n.763+16A=) c.760+16A= (n.760+16A=) c.727+16A= (n.727+16A=) | |
| 3 | g.189864434A>G | CA1428489505 | TP63 | c.766+16A>G (n.766+16A>G) c.484+16A>G (n.484+16A>G) c.229+16A>G (n.229+16A>G) n.590+16A>G c.715+16A>G (n.715+16A>G) c.763+16A>G (n.763+16A>G) c.760+16A>G (n.760+16A>G) c.727+16A>G (n.727+16A>G) | dbSNP gnomAD v4 |
| 3 | g.189864435_189864437del | CA2669041950 | TP63 | c.766+17_766+19del (n.766+17_766+19del) c.484+17_484+19del (n.484+17_484+19del) c.229+17_229+19del (n.229+17_229+19del) n.590+17_590+19del c.715+17_715+19del (n.715+17_715+19del) c.763+17_763+19del (n.763+17_763+19del) c.760+17_760+19del (n.760+17_760+19del) c.727+17_727+19del (n.727+17_727+19del) | gnomAD v4 |
| 3 | g.189864436C>A | CA1057637970 | TP63 | c.766+18C>A (n.766+18C>A) c.484+18C>A (n.484+18C>A) c.229+18C>A (n.229+18C>A) n.590+18C>A c.715+18C>A (n.715+18C>A) c.763+18C>A (n.763+18C>A) c.760+18C>A (n.760+18C>A) c.727+18C>A (n.727+18C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189864436C= | CA1428489509 | TP63 | c.766+18C= (n.766+18C=) c.484+18C= (n.484+18C=) c.229+18C= (n.229+18C=) n.590+18C= c.715+18C= (n.715+18C=) c.763+18C= (n.763+18C=) c.760+18C= (n.760+18C=) c.727+18C= (n.727+18C=) | |
| 3 | g.189864436C>T | CA548483410 | TP63 | c.766+18C>T (n.766+18C>T) c.484+18C>T (n.484+18C>T) c.229+18C>T (n.229+18C>T) n.590+18C>T c.715+18C>T (n.715+18C>T) c.763+18C>T (n.763+18C>T) c.760+18C>T (n.760+18C>T) c.727+18C>T (n.727+18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189864438C>A | CA2669041951 | TP63 | c.766+20C>A (n.766+20C>A) c.484+20C>A (n.484+20C>A) c.229+20C>A (n.229+20C>A) n.590+20C>A c.715+20C>A (n.715+20C>A) c.763+20C>A (n.763+20C>A) c.760+20C>A (n.760+20C>A) c.727+20C>A (n.727+20C>A) | gnomAD v4 |
| 3 | g.189864438C= | CA1428489514 | TP63 | c.766+20C= (n.766+20C=) c.484+20C= (n.484+20C=) c.229+20C= (n.229+20C=) n.590+20C= c.715+20C= (n.715+20C=) c.763+20C= (n.763+20C=) c.760+20C= (n.760+20C=) c.727+20C= (n.727+20C=) | |
| 3 | g.189864438C>G | CA2752237 | TP63 | c.766+20C>G (n.766+20C>G) c.484+20C>G (n.484+20C>G) c.229+20C>G (n.229+20C>G) n.590+20C>G c.715+20C>G (n.715+20C>G) c.763+20C>G (n.763+20C>G) c.760+20C>G (n.760+20C>G) c.727+20C>G (n.727+20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189864438C>T | CA2669041952 | TP63 | c.766+20C>T (n.766+20C>T) c.484+20C>T (n.484+20C>T) c.229+20C>T (n.229+20C>T) n.590+20C>T c.715+20C>T (n.715+20C>T) c.763+20C>T (n.763+20C>T) c.760+20C>T (n.760+20C>T) c.727+20C>T (n.727+20C>T) | gnomAD v4 |
| 3 | g.189864439dup | CA548483411 | TP63 | c.766+21dup (n.766+21dup) c.484+21dup (n.484+21dup) c.229+21dup (n.229+21dup) n.590+21dup c.715+21dup (n.715+21dup) c.763+21dup (n.763+21dup) c.760+21dup (n.760+21dup) c.727+21dup (n.727+21dup) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189864443_189864450dup | CA2759859266 | TP63 | c.766+25_766+32dup (n.766+25_766+32dup) c.484+25_484+32dup (n.484+25_484+32dup) c.229+25_229+32dup (n.229+25_229+32dup) n.590+25_590+32dup c.715+25_715+32dup (n.715+25_715+32dup) c.763+25_763+32dup (n.763+25_763+32dup) c.760+25_760+32dup (n.760+25_760+32dup) c.727+25_727+32dup (n.727+25_727+32dup) | |
| 3 | g.189864441A>G | CA2669041953 | TP63 | c.766+23A>G (n.766+23A>G) c.484+23A>G (n.484+23A>G) c.229+23A>G (n.229+23A>G) n.590+23A>G c.715+23A>G (n.715+23A>G) c.763+23A>G (n.763+23A>G) c.760+23A>G (n.760+23A>G) c.727+23A>G (n.727+23A>G) | gnomAD v4 |
| 3 | g.189864442C>G | CA2577989818 | TP63 | c.766+24C>G (n.766+24C>G) c.484+24C>G (n.484+24C>G) c.229+24C>G (n.229+24C>G) n.590+24C>G c.715+24C>G (n.715+24C>G) c.763+24C>G (n.763+24C>G) c.760+24C>G (n.760+24C>G) c.727+24C>G (n.727+24C>G) | gnomAD v4 |
| 3 | g.189864443T>A | CA2752238 | TP63 | c.766+25T>A (n.766+25T>A) c.484+25T>A (n.484+25T>A) c.229+25T>A (n.229+25T>A) n.590+25T>A c.715+25T>A (n.715+25T>A) c.763+25T>A (n.763+25T>A) c.760+25T>A (n.760+25T>A) c.727+25T>A (n.727+25T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864443T= | CA1428489526 | TP63 | c.766+25T= (n.766+25T=) c.484+25T= (n.484+25T=) c.229+25T= (n.229+25T=) n.590+25T= c.715+25T= (n.715+25T=) c.763+25T= (n.763+25T=) c.760+25T= (n.760+25T=) c.727+25T= (n.727+25T=) | |
| 3 | g.189864444G>A | CA2752239 | TP63 | c.766+26G>A (n.766+26G>A) c.484+26G>A (n.484+26G>A) c.229+26G>A (n.229+26G>A) n.590+26G>A c.715+26G>A (n.715+26G>A) c.763+26G>A (n.763+26G>A) c.760+26G>A (n.760+26G>A) c.727+26G>A (n.727+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189864444G= | CA1428489565 | TP63 | c.766+26G= (n.766+26G=) c.484+26G= (n.484+26G=) c.229+26G= (n.229+26G=) n.590+26G= c.715+26G= (n.715+26G=) c.763+26G= (n.763+26G=) c.760+26G= (n.760+26G=) c.727+26G= (n.727+26G=) | |
| 3 | g.189864445T>A | CA2669041954 | TP63 | c.766+27T>A (n.766+27T>A) c.484+27T>A (n.484+27T>A) c.229+27T>A (n.229+27T>A) n.590+27T>A c.715+27T>A (n.715+27T>A) c.763+27T>A (n.763+27T>A) c.760+27T>A (n.760+27T>A) c.727+27T>A (n.727+27T>A) | gnomAD v4 |
| 3 | g.189864446T>A | CA2669041955 | TP63 | c.766+28T>A (n.766+28T>A) c.484+28T>A (n.484+28T>A) c.229+28T>A (n.229+28T>A) n.590+28T>A c.715+28T>A (n.715+28T>A) c.763+28T>A (n.763+28T>A) c.760+28T>A (n.760+28T>A) c.727+28T>A (n.727+28T>A) | gnomAD v4 |
| 3 | g.189864447C>A | CA2669041956 | TP63 | c.766+29C>A (n.766+29C>A) c.484+29C>A (n.484+29C>A) c.229+29C>A (n.229+29C>A) n.590+29C>A c.715+29C>A (n.715+29C>A) c.763+29C>A (n.763+29C>A) c.760+29C>A (n.760+29C>A) c.727+29C>A (n.727+29C>A) | gnomAD v4 |
| 3 | g.189864447C>T | CA2669041957 | TP63 | c.766+29C>T (n.766+29C>T) c.484+29C>T (n.484+29C>T) c.229+29C>T (n.229+29C>T) n.590+29C>T c.715+29C>T (n.715+29C>T) c.763+29C>T (n.763+29C>T) c.760+29C>T (n.760+29C>T) c.727+29C>T (n.727+29C>T) | gnomAD v4 |
| 3 | g.189864449A>C | CA2669041958 | TP63 | c.766+31A>C (n.766+31A>C) c.484+31A>C (n.484+31A>C) c.229+31A>C (n.229+31A>C) n.590+31A>C c.715+31A>C (n.715+31A>C) c.763+31A>C (n.763+31A>C) c.760+31A>C (n.760+31A>C) c.727+31A>C (n.727+31A>C) | gnomAD v4 |
| 3 | g.189864449A>G | CA2577989819 | TP63 | c.766+31A>G (n.766+31A>G) c.484+31A>G (n.484+31A>G) c.229+31A>G (n.229+31A>G) n.590+31A>G c.715+31A>G (n.715+31A>G) c.763+31A>G (n.763+31A>G) c.760+31A>G (n.760+31A>G) c.727+31A>G (n.727+31A>G) | gnomAD v4 |
| 3 | g.189864450C>T | CA2669041959 | TP63 | c.766+32C>T (n.766+32C>T) c.484+32C>T (n.484+32C>T) c.229+32C>T (n.229+32C>T) n.590+32C>T c.715+32C>T (n.715+32C>T) c.763+32C>T (n.763+32C>T) c.760+32C>T (n.760+32C>T) c.727+32C>T (n.727+32C>T) | gnomAD v4 |
| 3 | g.189864451C= | CA1428489570 | TP63 | c.766+33C= (n.766+33C=) c.484+33C= (n.484+33C=) c.229+33C= (n.229+33C=) n.590+33C= c.715+33C= (n.715+33C=) c.763+33C= (n.763+33C=) c.760+33C= (n.760+33C=) c.727+33C= (n.727+33C=) | |
| 3 | g.189864451C>T | CA2752240 | TP63 | c.766+33C>T (n.766+33C>T) c.484+33C>T (n.484+33C>T) c.229+33C>T (n.229+33C>T) n.590+33C>T c.715+33C>T (n.715+33C>T) c.763+33C>T (n.763+33C>T) c.760+33C>T (n.760+33C>T) c.727+33C>T (n.727+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864452T>A | CA1428489577 | TP63 | c.766+34T>A (n.766+34T>A) c.484+34T>A (n.484+34T>A) c.229+34T>A (n.229+34T>A) n.590+34T>A c.715+34T>A (n.715+34T>A) c.763+34T>A (n.763+34T>A) c.760+34T>A (n.760+34T>A) c.727+34T>A (n.727+34T>A) | dbSNP gnomAD v4 |
| 3 | g.189864452T>C | CA2581887987 | TP63 | c.766+34T>C (n.766+34T>C) c.484+34T>C (n.484+34T>C) c.229+34T>C (n.229+34T>C) n.590+34T>C c.715+34T>C (n.715+34T>C) c.763+34T>C (n.763+34T>C) c.760+34T>C (n.760+34T>C) c.727+34T>C (n.727+34T>C) | |
| 3 | g.189864452T>G | CA2752241 | TP63 | c.766+34T>G (n.766+34T>G) c.484+34T>G (n.484+34T>G) c.229+34T>G (n.229+34T>G) n.590+34T>G c.715+34T>G (n.715+34T>G) c.763+34T>G (n.763+34T>G) c.760+34T>G (n.760+34T>G) c.727+34T>G (n.727+34T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864452T= | CA1428489575 | TP63 | c.766+34T= (n.766+34T=) c.484+34T= (n.484+34T=) c.229+34T= (n.229+34T=) n.590+34T= c.715+34T= (n.715+34T=) c.763+34T= (n.763+34T=) c.760+34T= (n.760+34T=) c.727+34T= (n.727+34T=) | |
| 3 | g.189864454C>G | CA2669041960 | TP63 | c.766+36C>G (n.766+36C>G) c.484+36C>G (n.484+36C>G) c.229+36C>G (n.229+36C>G) n.590+36C>G c.715+36C>G (n.715+36C>G) c.763+36C>G (n.763+36C>G) c.760+36C>G (n.760+36C>G) c.727+36C>G (n.727+36C>G) | gnomAD v4 |
| 3 | g.189864455T>C | CA89742211 | TP63 | c.766+37T>C (n.766+37T>C) c.484+37T>C (n.484+37T>C) c.229+37T>C (n.229+37T>C) n.590+37T>C c.715+37T>C (n.715+37T>C) c.763+37T>C (n.763+37T>C) c.760+37T>C (n.760+37T>C) c.727+37T>C (n.727+37T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189864455T= | CA1428489580 | TP63 | c.766+37T= (n.766+37T=) c.484+37T= (n.484+37T=) c.229+37T= (n.229+37T=) n.590+37T= c.715+37T= (n.715+37T=) c.763+37T= (n.763+37T=) c.760+37T= (n.760+37T=) c.727+37T= (n.727+37T=) | |
| 3 | g.189864456del | CA2669041961 | TP63 | c.766+38del (n.766+38del) c.484+38del (n.484+38del) c.229+38del (n.229+38del) n.590+38del c.715+38del (n.715+38del) c.763+38del (n.763+38del) c.760+38del (n.760+38del) c.727+38del (n.727+38del) | gnomAD v4 |
| 3 | g.189864456T>A | CA2669041962 | TP63 | c.766+38T>A (n.766+38T>A) c.484+38T>A (n.484+38T>A) c.229+38T>A (n.229+38T>A) n.590+38T>A c.715+38T>A (n.715+38T>A) c.763+38T>A (n.763+38T>A) c.760+38T>A (n.760+38T>A) c.727+38T>A (n.727+38T>A) | gnomAD v4 |
| 3 | g.189864457G>C | CA89742222 | TP63 | c.766+39G>C (n.766+39G>C) c.484+39G>C (n.484+39G>C) c.229+39G>C (n.229+39G>C) n.590+39G>C c.715+39G>C (n.715+39G>C) c.763+39G>C (n.763+39G>C) c.760+39G>C (n.760+39G>C) c.727+39G>C (n.727+39G>C) | dbSNP |
| 3 | g.189864457G= | CA1428489584 | TP63 | c.766+39G= (n.766+39G=) c.484+39G= (n.484+39G=) c.229+39G= (n.229+39G=) n.590+39G= c.715+39G= (n.715+39G=) c.763+39G= (n.763+39G=) c.760+39G= (n.760+39G=) c.727+39G= (n.727+39G=) | |
| 3 | g.189864457G>T | CA2752242 | TP63 | c.766+39G>T (n.766+39G>T) c.484+39G>T (n.484+39G>T) c.229+39G>T (n.229+39G>T) n.590+39G>T c.715+39G>T (n.715+39G>T) c.763+39G>T (n.763+39G>T) c.760+39G>T (n.760+39G>T) c.727+39G>T (n.727+39G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189864459A>G | CA2669041963 | TP63 | c.766+41A>G (n.766+41A>G) c.484+41A>G (n.484+41A>G) c.229+41A>G (n.229+41A>G) n.590+41A>G c.715+41A>G (n.715+41A>G) c.763+41A>G (n.763+41A>G) c.760+41A>G (n.760+41A>G) c.727+41A>G (n.727+41A>G) | gnomAD v4 |
| 3 | g.189864460G>A | CA2752243 | TP63 | c.766+42G>A (n.766+42G>A) c.484+42G>A (n.484+42G>A) c.229+42G>A (n.229+42G>A) n.590+42G>A c.715+42G>A (n.715+42G>A) c.763+42G>A (n.763+42G>A) c.760+42G>A (n.760+42G>A) c.727+42G>A (n.727+42G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864460G>C | CA2581887988 | TP63 | c.766+42G>C (n.766+42G>C) c.484+42G>C (n.484+42G>C) c.229+42G>C (n.229+42G>C) n.590+42G>C c.715+42G>C (n.715+42G>C) c.763+42G>C (n.763+42G>C) c.760+42G>C (n.760+42G>C) c.727+42G>C (n.727+42G>C) | gnomAD v4 |
| 3 | g.189864460G= | CA1428489592 | TP63 | c.766+42G= (n.766+42G=) c.484+42G= (n.484+42G=) c.229+42G= (n.229+42G=) n.590+42G= c.715+42G= (n.715+42G=) c.763+42G= (n.763+42G=) c.760+42G= (n.760+42G=) c.727+42G= (n.727+42G=) | |
| 3 | g.189864460G>T | CA2581887989 | TP63 | c.766+42G>T (n.766+42G>T) c.484+42G>T (n.484+42G>T) c.229+42G>T (n.229+42G>T) n.590+42G>T c.715+42G>T (n.715+42G>T) c.763+42G>T (n.763+42G>T) c.760+42G>T (n.760+42G>T) c.727+42G>T (n.727+42G>T) | gnomAD v4 |
| 3 | g.189864461G>A | CA2577989820 | TP63 | c.766+43G>A (n.766+43G>A) c.484+43G>A (n.484+43G>A) c.229+43G>A (n.229+43G>A) n.590+43G>A c.715+43G>A (n.715+43G>A) c.763+43G>A (n.763+43G>A) c.760+43G>A (n.760+43G>A) c.727+43G>A (n.727+43G>A) | gnomAD v4 |
| 3 | g.189864461G>C | CA548483412 | TP63 | c.766+43G>C (n.766+43G>C) c.484+43G>C (n.484+43G>C) c.229+43G>C (n.229+43G>C) n.590+43G>C c.715+43G>C (n.715+43G>C) c.763+43G>C (n.763+43G>C) c.760+43G>C (n.760+43G>C) c.727+43G>C (n.727+43G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189864461G= | CA1428489595 | TP63 | c.766+43G= (n.766+43G=) c.484+43G= (n.484+43G=) c.229+43G= (n.229+43G=) n.590+43G= c.715+43G= (n.715+43G=) c.763+43G= (n.763+43G=) c.760+43G= (n.760+43G=) c.727+43G= (n.727+43G=) | |
| 3 | g.189864463C>A | CA2669041965 | TP63 | c.766+45C>A (n.766+45C>A) c.484+45C>A (n.484+45C>A) c.229+45C>A (n.229+45C>A) n.590+45C>A c.715+45C>A (n.715+45C>A) c.763+45C>A (n.763+45C>A) c.760+45C>A (n.760+45C>A) c.727+45C>A (n.727+45C>A) | gnomAD v4 |
| 3 | g.189864463C= | CA1428489597 | TP63 | c.766+45C= (n.766+45C=) c.484+45C= (n.484+45C=) c.229+45C= (n.229+45C=) n.590+45C= c.715+45C= (n.715+45C=) c.763+45C= (n.763+45C=) c.760+45C= (n.760+45C=) c.727+45C= (n.727+45C=) | |
| 3 | g.189864463C>G | CA1428489598 | TP63 | c.766+45C>G (n.766+45C>G) c.484+45C>G (n.484+45C>G) c.229+45C>G (n.229+45C>G) n.590+45C>G c.715+45C>G (n.715+45C>G) c.763+45C>G (n.763+45C>G) c.760+45C>G (n.760+45C>G) c.727+45C>G (n.727+45C>G) | dbSNP |
| 3 | g.189864463C>T | CA2669041964 | TP63 | c.766+45C>T (n.766+45C>T) c.484+45C>T (n.484+45C>T) c.229+45C>T (n.229+45C>T) n.590+45C>T c.715+45C>T (n.715+45C>T) c.763+45C>T (n.763+45C>T) c.760+45C>T (n.760+45C>T) c.727+45C>T (n.727+45C>T) | gnomAD v4 |
| 3 | g.189864464A>G | CA2669041966 | TP63 | c.766+46A>G (n.766+46A>G) c.484+46A>G (n.484+46A>G) c.229+46A>G (n.229+46A>G) n.590+46A>G c.715+46A>G (n.715+46A>G) c.763+46A>G (n.763+46A>G) c.760+46A>G (n.760+46A>G) c.727+46A>G (n.727+46A>G) | gnomAD v4 |
| 3 | g.189864465A= | CA1428489600 | TP63 | c.766+47A= (n.766+47A=) c.484+47A= (n.484+47A=) c.229+47A= (n.229+47A=) n.590+47A= c.715+47A= (n.715+47A=) c.763+47A= (n.763+47A=) c.760+47A= (n.760+47A=) c.727+47A= (n.727+47A=) | |
| 3 | g.189864465A>G | CA1428489601 | TP63 | c.766+47A>G (n.766+47A>G) c.484+47A>G (n.484+47A>G) c.229+47A>G (n.229+47A>G) n.590+47A>G c.715+47A>G (n.715+47A>G) c.763+47A>G (n.763+47A>G) c.760+47A>G (n.760+47A>G) c.727+47A>G (n.727+47A>G) | dbSNP gnomAD v4 |
| 3 | g.189864466G>T | CA2669041967 | TP63 | c.766+48G>T (n.766+48G>T) c.484+48G>T (n.484+48G>T) c.229+48G>T (n.229+48G>T) n.590+48G>T c.715+48G>T (n.715+48G>T) c.763+48G>T (n.763+48G>T) c.760+48G>T (n.760+48G>T) c.727+48G>T (n.727+48G>T) | gnomAD v4 |
| 3 | g.189864467A= | CA1428489602 | TP63 | c.766+49A= (n.766+49A=) c.484+49A= (n.484+49A=) c.229+49A= (n.229+49A=) n.590+49A= c.715+49A= (n.715+49A=) c.763+49A= (n.763+49A=) c.760+49A= (n.760+49A=) c.727+49A= (n.727+49A=) | |
| 3 | g.189864467A>C | CA2669041968 | TP63 | c.766+49A>C (n.766+49A>C) c.484+49A>C (n.484+49A>C) c.229+49A>C (n.229+49A>C) n.590+49A>C c.715+49A>C (n.715+49A>C) c.763+49A>C (n.763+49A>C) c.760+49A>C (n.760+49A>C) c.727+49A>C (n.727+49A>C) | gnomAD v4 |
| 3 | g.189864467A>T | CA2669041969 | TP63 | c.766+49A>T (n.766+49A>T) c.484+49A>T (n.484+49A>T) c.229+49A>T (n.229+49A>T) n.590+49A>T c.715+49A>T (n.715+49A>T) c.763+49A>T (n.763+49A>T) c.760+49A>T (n.760+49A>T) c.727+49A>T (n.727+49A>T) | gnomAD v4 |
| 3 | g.189864468T>A | CA2669041970 | TP63 | c.766+50T>A (n.766+50T>A) c.484+50T>A (n.484+50T>A) c.229+50T>A (n.229+50T>A) n.590+50T>A c.715+50T>A (n.715+50T>A) c.763+50T>A (n.763+50T>A) c.760+50T>A (n.760+50T>A) c.727+50T>A (n.727+50T>A) | gnomAD v4 |
| 3 | g.189864469dup | CA548483413 | TP63 | c.766+51dup (n.766+51dup) c.484+51dup (n.484+51dup) c.229+51dup (n.229+51dup) n.590+51dup c.715+51dup (n.715+51dup) c.763+51dup (n.763+51dup) c.760+51dup (n.760+51dup) c.727+51dup (n.727+51dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864469T>C | CA2669041971 | TP63 | c.766+51T>C (n.766+51T>C) c.484+51T>C (n.484+51T>C) c.229+51T>C (n.229+51T>C) n.590+51T>C c.715+51T>C (n.715+51T>C) c.763+51T>C (n.763+51T>C) c.760+51T>C (n.760+51T>C) c.727+51T>C (n.727+51T>C) | gnomAD v4 |
| 3 | g.189864470C>A | CA2669041972 | TP63 | c.766+52C>A (n.766+52C>A) c.484+52C>A (n.484+52C>A) c.229+52C>A (n.229+52C>A) n.590+52C>A c.715+52C>A (n.715+52C>A) c.763+52C>A (n.763+52C>A) c.760+52C>A (n.760+52C>A) c.727+52C>A (n.727+52C>A) | gnomAD v4 |
| 3 | g.189864472G>A | CA1057637988 | TP63 | c.766+54G>A (n.766+54G>A) c.484+54G>A (n.484+54G>A) c.229+54G>A (n.229+54G>A) n.590+54G>A c.715+54G>A (n.715+54G>A) c.763+54G>A (n.763+54G>A) c.760+54G>A (n.760+54G>A) c.727+54G>A (n.727+54G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189864472G= | CA1428489606 | TP63 | c.766+54G= (n.766+54G=) c.484+54G= (n.484+54G=) c.229+54G= (n.229+54G=) n.590+54G= c.715+54G= (n.715+54G=) c.763+54G= (n.763+54G=) c.760+54G= (n.760+54G=) c.727+54G= (n.727+54G=) | |
| 3 | g.189864472G>T | CA2669041973 | TP63 | c.766+54G>T (n.766+54G>T) c.484+54G>T (n.484+54G>T) c.229+54G>T (n.229+54G>T) n.590+54G>T c.715+54G>T (n.715+54G>T) c.763+54G>T (n.763+54G>T) c.760+54G>T (n.760+54G>T) c.727+54G>T (n.727+54G>T) | gnomAD v4 |
| 3 | g.189864473T>A | CA1428489608 | TP63 | c.766+55T>A (n.766+55T>A) c.484+55T>A (n.484+55T>A) c.229+55T>A (n.229+55T>A) n.590+55T>A c.715+55T>A (n.715+55T>A) c.763+55T>A (n.763+55T>A) c.760+55T>A (n.760+55T>A) c.727+55T>A (n.727+55T>A) | dbSNP gnomAD v4 |
| 3 | g.189864473T>C | CA2669041974 | TP63 | c.766+55T>C (n.766+55T>C) c.484+55T>C (n.484+55T>C) c.229+55T>C (n.229+55T>C) n.590+55T>C c.715+55T>C (n.715+55T>C) c.763+55T>C (n.763+55T>C) c.760+55T>C (n.760+55T>C) c.727+55T>C (n.727+55T>C) | gnomAD v4 |
| 3 | g.189864473T= | CA1428489607 | TP63 | c.766+55T= (n.766+55T=) c.484+55T= (n.484+55T=) c.229+55T= (n.229+55T=) n.590+55T= c.715+55T= (n.715+55T=) c.763+55T= (n.763+55T=) c.760+55T= (n.760+55T=) c.727+55T= (n.727+55T=) | |
| 3 | g.189864474G>T | CA2669041976 | TP63 | c.766+56G>T (n.766+56G>T) c.484+56G>T (n.484+56G>T) c.229+56G>T (n.229+56G>T) n.590+56G>T c.715+56G>T (n.715+56G>T) c.763+56G>T (n.763+56G>T) c.760+56G>T (n.760+56G>T) c.727+56G>T (n.727+56G>T) | gnomAD v4 |
| 3 | g.189864476del | CA2669041975 | TP63 | c.766+58del (n.766+58del) c.484+58del (n.484+58del) c.229+58del (n.229+58del) n.590+58del c.715+58del (n.715+58del) c.763+58del (n.763+58del) c.760+58del (n.760+58del) c.727+58del (n.727+58del) | gnomAD v4 |
| 3 | g.189864475G>T | CA2669041977 | TP63 | c.766+57G>T (n.766+57G>T) c.484+57G>T (n.484+57G>T) c.229+57G>T (n.229+57G>T) n.590+57G>T c.715+57G>T (n.715+57G>T) c.763+57G>T (n.763+57G>T) c.760+57G>T (n.760+57G>T) c.727+57G>T (n.727+57G>T) | gnomAD v4 |
| 3 | g.189864476G>A | CA2669041978 | TP63 | c.766+58G>A (n.766+58G>A) c.484+58G>A (n.484+58G>A) c.229+58G>A (n.229+58G>A) n.590+58G>A c.715+58G>A (n.715+58G>A) c.763+58G>A (n.763+58G>A) c.760+58G>A (n.760+58G>A) c.727+58G>A (n.727+58G>A) | gnomAD v4 |
| 3 | g.189864477C>A | CA2669041979 | TP63 | c.766+59C>A (n.766+59C>A) c.484+59C>A (n.484+59C>A) c.229+59C>A (n.229+59C>A) n.590+59C>A c.715+59C>A (n.715+59C>A) c.763+59C>A (n.763+59C>A) c.760+59C>A (n.760+59C>A) c.727+59C>A (n.727+59C>A) | gnomAD v4 |
| 3 | g.189864478A>G | CA2669041980 | TP63 | c.766+60A>G (n.766+60A>G) c.484+60A>G (n.484+60A>G) c.229+60A>G (n.229+60A>G) n.590+60A>G c.715+60A>G (n.715+60A>G) c.763+60A>G (n.763+60A>G) c.760+60A>G (n.760+60A>G) c.727+60A>G (n.727+60A>G) | gnomAD v4 |
| 3 | g.189864478_189864479delinsAT | CA1428489610 | TP63 | c.766+60_766+61delinsAT (n.766+60_766+61delinsAT) c.484+60_484+61delinsAT (n.484+60_484+61delinsAT) c.229+60_229+61delinsAT (n.229+60_229+61delinsAT) n.590+60_590+61delinsAT c.715+60_715+61delinsAT (n.715+60_715+61delinsAT) c.763+60_763+61delinsAT (n.763+60_763+61delinsAT) c.760+60_760+61delinsAT (n.760+60_760+61delinsAT) c.727+60_727+61delinsAT (n.727+60_727+61delinsAT) | |
| 3 | g.189864479T>C | CA89742252 | TP63 | c.766+61T>C (n.766+61T>C) c.484+61T>C (n.484+61T>C) c.229+61T>C (n.229+61T>C) n.590+61T>C c.715+61T>C (n.715+61T>C) c.763+61T>C (n.763+61T>C) c.760+61T>C (n.760+61T>C) c.727+61T>C (n.727+61T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864479T= | CA1428489614 | TP63 | c.766+61T= (n.766+61T=) c.484+61T= (n.484+61T=) c.229+61T= (n.229+61T=) n.590+61T= c.715+61T= (n.715+61T=) c.763+61T= (n.763+61T=) c.760+61T= (n.760+61T=) c.727+61T= (n.727+61T=) | |
| 3 | g.189864483del | CA1057637993 | TP63 | c.766+65del (n.766+65del) c.484+65del (n.484+65del) c.229+65del (n.229+65del) n.590+65del c.715+65del (n.715+65del) c.763+65del (n.763+65del) c.760+65del (n.760+65del) c.727+65del (n.727+65del) | dbSNP gnomAD v4 |
| 3 | g.189864482T>C | CA1428489617 | TP63 | c.766+64T>C (n.766+64T>C) c.484+64T>C (n.484+64T>C) c.229+64T>C (n.229+64T>C) n.590+64T>C c.715+64T>C (n.715+64T>C) c.763+64T>C (n.763+64T>C) c.760+64T>C (n.760+64T>C) c.727+64T>C (n.727+64T>C) | dbSNP |
| 3 | g.189864482T>G | CA548483414 | TP63 | c.766+64T>G (n.766+64T>G) c.484+64T>G (n.484+64T>G) c.229+64T>G (n.229+64T>G) n.590+64T>G c.715+64T>G (n.715+64T>G) c.763+64T>G (n.763+64T>G) c.760+64T>G (n.760+64T>G) c.727+64T>G (n.727+64T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864482T= | CA1428489616 | TP63 | c.766+64T= (n.766+64T=) c.484+64T= (n.484+64T=) c.229+64T= (n.229+64T=) n.590+64T= c.715+64T= (n.715+64T=) c.763+64T= (n.763+64T=) c.760+64T= (n.760+64T=) c.727+64T= (n.727+64T=) | |
| 3 | g.189864484G>A | CA2669041981 | TP63 | c.766+66G>A (n.766+66G>A) c.484+66G>A (n.484+66G>A) c.229+66G>A (n.229+66G>A) n.590+66G>A c.715+66G>A (n.715+66G>A) c.763+66G>A (n.763+66G>A) c.760+66G>A (n.760+66G>A) c.727+66G>A (n.727+66G>A) | gnomAD v4 |
| 3 | g.189864484G>T | CA2669041982 | TP63 | c.766+66G>T (n.766+66G>T) c.484+66G>T (n.484+66G>T) c.229+66G>T (n.229+66G>T) n.590+66G>T c.715+66G>T (n.715+66G>T) c.763+66G>T (n.763+66G>T) c.760+66G>T (n.760+66G>T) c.727+66G>T (n.727+66G>T) | gnomAD v4 |
| 3 | g.189864487T>A | CA2669041983 | TP63 | c.766+69T>A (n.766+69T>A) c.484+69T>A (n.484+69T>A) c.229+69T>A (n.229+69T>A) n.590+69T>A c.715+69T>A (n.715+69T>A) c.763+69T>A (n.763+69T>A) c.760+69T>A (n.760+69T>A) c.727+69T>A (n.727+69T>A) | gnomAD v4 |