Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.189894220G>A | CA2752572 | TP63 | c.1761G>A (p.Leu587=) c.1479G>A (p.Leu493=) c.1522G>A (p.Glu508Lys) c.1667G>A (p.Ter556=) c.1240G>A (p.Glu414Lys) c.1385G>A (p.Ter462=) c.1749G>A (p.Leu583=) c.1224G>A (p.Leu408=) c.1467G>A (p.Leu489=) c.1710G>A (p.Leu570=) c.1758G>A (p.Leu586=) c.1755G>A (p.Leu585=) c.1722G>A (p.Leu574=) c.1228G>A (p.Glu410Lys) c.973G>A (p.Glu325Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894220G>C | CA2752573 | TP63 | c.1761G>C (p.Leu587=) c.1479G>C (p.Leu493=) c.1522G>C (p.Glu508Gln) c.1667G>C (p.Ter556Ser) c.1240G>C (p.Glu414Gln) c.1385G>C (p.Ter462Ser) c.1749G>C (p.Leu583=) c.1224G>C (p.Leu408=) c.1467G>C (p.Leu489=) c.1710G>C (p.Leu570=) c.1758G>C (p.Leu586=) c.1755G>C (p.Leu585=) c.1722G>C (p.Leu574=) c.1228G>C (p.Glu410Gln) c.973G>C (p.Glu325Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894220G= | CA1428535196 | TP63 | c.1761G= (p.Leu587=) c.1479G= (p.Leu493=) c.1522G= (p.Glu508=) c.1667G= (p.Ter556=) c.1240G= (p.Glu414=) c.1385G= (p.Ter462=) c.1749G= (p.Leu583=) c.1224G= (p.Leu408=) c.1467G= (p.Leu489=) c.1710G= (p.Leu570=) c.1758G= (p.Leu586=) c.1755G= (p.Leu585=) c.1722G= (p.Leu574=) c.1228G= (p.Glu410=) c.973G= (p.Glu325=) | |
3 | g.189894220G>T | CA355751137 | TP63 | c.1761G>T (p.Leu587=) c.1479G>T (p.Leu493=) c.1522G>T (p.Glu508Ter) c.1667G>T (p.Ter556Leu) c.1240G>T (p.Glu414Ter) c.1385G>T (p.Ter462Leu) c.1749G>T (p.Leu583=) c.1224G>T (p.Leu408=) c.1467G>T (p.Leu489=) c.1710G>T (p.Leu570=) c.1758G>T (p.Leu586=) c.1755G>T (p.Leu585=) c.1722G>T (p.Leu574=) c.1228G>T (p.Glu410Ter) c.973G>T (p.Glu325Ter) | COSMIC COSMIC |
3 | g.189894221A= | CA1428535197 | TP63 | c.1762A= (p.Lys588=) c.1480A= (p.Lys494=) c.1523A= (p.Glu508=) c.1668A= (p.Ter556=) c.1241A= (p.Glu414=) c.1386A= (p.Ter462=) c.1750A= (p.Lys584=) c.1225A= (p.Lys409=) c.1468A= (p.Lys490=) c.1711A= (p.Lys571=) c.1759A= (p.Lys587=) c.1756A= (p.Lys586=) c.1723A= (p.Lys575=) c.1229A= (p.Glu410=) c.974A= (p.Glu325=) | |
3 | g.189894221A>C | CA355751138 | TP63 | c.1762A>C (p.Lys588Gln) c.1480A>C (p.Lys494Gln) c.1523A>C (p.Glu508Ala) c.1668A>C (p.Ter556Cys) c.1241A>C (p.Glu414Ala) c.1386A>C (p.Ter462Cys) c.1750A>C (p.Lys584Gln) c.1225A>C (p.Lys409Gln) c.1468A>C (p.Lys490Gln) c.1711A>C (p.Lys571Gln) c.1759A>C (p.Lys587Gln) c.1756A>C (p.Lys586Gln) c.1723A>C (p.Lys575Gln) c.1229A>C (p.Glu410Ala) c.974A>C (p.Glu325Ala) | |
3 | g.189894221A>G | CA355751139 | TP63 | c.1762A>G (p.Lys588Glu) c.1480A>G (p.Lys494Glu) c.1523A>G (p.Glu508Gly) c.1668A>G (p.Ter556Trp) c.1241A>G (p.Glu414Gly) c.1386A>G (p.Ter462Trp) c.1750A>G (p.Lys584Glu) c.1225A>G (p.Lys409Glu) c.1468A>G (p.Lys490Glu) c.1711A>G (p.Lys571Glu) c.1759A>G (p.Lys587Glu) c.1756A>G (p.Lys586Glu) c.1723A>G (p.Lys575Glu) c.1229A>G (p.Glu410Gly) c.974A>G (p.Glu325Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.189894221A>T | CA355751140 | TP63 | c.1762A>T (p.Lys588Ter) c.1480A>T (p.Lys494Ter) c.1523A>T (p.Glu508Val) c.1668A>T (p.Ter556Cys) c.1241A>T (p.Glu414Val) c.1386A>T (p.Ter462Cys) c.1750A>T (p.Lys584Ter) c.1225A>T (p.Lys409Ter) c.1468A>T (p.Lys490Ter) c.1711A>T (p.Lys571Ter) c.1759A>T (p.Lys587Ter) c.1756A>T (p.Lys586Ter) c.1723A>T (p.Lys575Ter) c.1229A>T (p.Glu410Val) c.974A>T (p.Glu325Val) | |
3 | g.189894222A>C | CA355751141 | TP63 | c.1763A>C (p.Lys588Thr) c.1481A>C (p.Lys494Thr) c.1524A>C (p.Glu508Asp) c.1242A>C (p.Glu414Asp) c.1751A>C (p.Lys584Thr) c.1226A>C (p.Lys409Thr) c.1469A>C (p.Lys490Thr) c.*1A>C (n.*1A>C) c.1712A>C (p.Lys571Thr) c.1760A>C (p.Lys587Thr) c.1757A>C (p.Lys586Thr) c.1724A>C (p.Lys575Thr) c.1230A>C (p.Glu410Asp) c.975A>C (p.Glu325Asp) | |
3 | g.189894222A>G | CA355751142 | TP63 | c.1763A>G (p.Lys588Arg) c.1481A>G (p.Lys494Arg) c.1524A>G (p.Glu508=) c.1242A>G (p.Glu414=) c.1751A>G (p.Lys584Arg) c.1226A>G (p.Lys409Arg) c.1469A>G (p.Lys490Arg) c.*1A>G (n.*1A>G) c.1712A>G (p.Lys571Arg) c.1760A>G (p.Lys587Arg) c.1757A>G (p.Lys586Arg) c.1724A>G (p.Lys575Arg) c.1230A>G (p.Glu410=) c.975A>G (p.Glu325=) | dbSNP |
3 | g.189894222A>T | CA355751143 | TP63 | c.1763A>T (p.Lys588Ile) c.1481A>T (p.Lys494Ile) c.1524A>T (p.Glu508Asp) c.1242A>T (p.Glu414Asp) c.1751A>T (p.Lys584Ile) c.1226A>T (p.Lys409Ile) c.1469A>T (p.Lys490Ile) c.*1A>T (n.*1A>T) c.1712A>T (p.Lys571Ile) c.1760A>T (p.Lys587Ile) c.1757A>T (p.Lys586Ile) c.1724A>T (p.Lys575Ile) c.1230A>T (p.Glu410Asp) c.975A>T (p.Glu325Asp) | |
3 | g.189894223A>C | CA355751146 | TP63 | c.1764A>C (p.Lys588Asn) c.1482A>C (p.Lys494Asn) c.1525A>C (p.Asn509His) c.1243A>C (p.Asn415His) c.1752A>C (p.Lys584Asn) c.1227A>C (p.Lys409Asn) c.1470A>C (p.Lys490Asn) c.*2A>C (n.*2A>C) c.1713A>C (p.Lys571Asn) c.1761A>C (p.Lys587Asn) c.1758A>C (p.Lys586Asn) c.1725A>C (p.Lys575Asn) c.1231A>C (p.Asn411His) c.976A>C (p.Asn326His) | |
3 | g.189894223A>G | CA355751144 | TP63 | c.1764A>G (p.Lys588=) c.1482A>G (p.Lys494=) c.1525A>G (p.Asn509Asp) c.1243A>G (p.Asn415Asp) c.1752A>G (p.Lys584=) c.1227A>G (p.Lys409=) c.1470A>G (p.Lys490=) c.*2A>G (n.*2A>G) c.1713A>G (p.Lys571=) c.1761A>G (p.Lys587=) c.1758A>G (p.Lys586=) c.1725A>G (p.Lys575=) c.1231A>G (p.Asn411Asp) c.976A>G (p.Asn326Asp) | gnomAD v4 |
3 | g.189894223A>T | CA355751145 | TP63 | c.1764A>T (p.Lys588Asn) c.1482A>T (p.Lys494Asn) c.1525A>T (p.Asn509Tyr) c.1243A>T (p.Asn415Tyr) c.1752A>T (p.Lys584Asn) c.1227A>T (p.Lys409Asn) c.1470A>T (p.Lys490Asn) c.*2A>T (n.*2A>T) c.1713A>T (p.Lys571Asn) c.1761A>T (p.Lys587Asn) c.1758A>T (p.Lys586Asn) c.1725A>T (p.Lys575Asn) c.1231A>T (p.Asn411Tyr) c.976A>T (p.Asn326Tyr) | |
3 | g.189894224A>C | CA355751147 | TP63 | c.1765A>C (p.Ile589Leu) c.1483A>C (p.Ile495Leu) c.1526A>C (p.Asn509Thr) c.1244A>C (p.Asn415Thr) c.1753A>C (p.Ile585Leu) c.1228A>C (p.Ile410Leu) c.1471A>C (p.Ile491Leu) c.*3A>C (n.*3A>C) c.1714A>C (p.Ile572Leu) c.1762A>C (p.Ile588Leu) c.1759A>C (p.Ile587Leu) c.1726A>C (p.Ile576Leu) c.1232A>C (p.Asn411Thr) c.977A>C (p.Asn326Thr) | dbSNP |
3 | g.189894224A>G | CA355751148 | TP63 | c.1765A>G (p.Ile589Val) c.1483A>G (p.Ile495Val) c.1526A>G (p.Asn509Ser) c.1244A>G (p.Asn415Ser) c.1753A>G (p.Ile585Val) c.1228A>G (p.Ile410Val) c.1471A>G (p.Ile491Val) c.*3A>G (n.*3A>G) c.1714A>G (p.Ile572Val) c.1762A>G (p.Ile588Val) c.1759A>G (p.Ile587Val) c.1726A>G (p.Ile576Val) c.1232A>G (p.Asn411Ser) c.977A>G (p.Asn326Ser) | |
3 | g.189894224A>T | CA355751149 | TP63 | c.1765A>T (p.Ile589Phe) c.1483A>T (p.Ile495Phe) c.1526A>T (p.Asn509Ile) c.1244A>T (p.Asn415Ile) c.1753A>T (p.Ile585Phe) c.1228A>T (p.Ile410Phe) c.1471A>T (p.Ile491Phe) c.*3A>T (n.*3A>T) c.1714A>T (p.Ile572Phe) c.1762A>T (p.Ile588Phe) c.1759A>T (p.Ile587Phe) c.1726A>T (p.Ile576Phe) c.1232A>T (p.Asn411Ile) c.977A>T (p.Asn326Ile) | dbSNP |
3 | g.189894225T>A | CA355751150 | TP63 | c.1766T>A (p.Ile589Asn) c.1484T>A (p.Ile495Asn) c.1527T>A (p.Asn509Lys) c.1245T>A (p.Asn415Lys) c.1754T>A (p.Ile585Asn) c.1229T>A (p.Ile410Asn) c.1472T>A (p.Ile491Asn) c.*4T>A (n.*4T>A) c.1715T>A (p.Ile572Asn) c.1763T>A (p.Ile588Asn) c.1760T>A (p.Ile587Asn) c.1727T>A (p.Ile576Asn) c.1233T>A (p.Asn411Lys) c.978T>A (p.Asn326Lys) | |
3 | g.189894225T>C | CA355751151 | TP63 | c.1766T>C (p.Ile589Thr) c.1484T>C (p.Ile495Thr) c.1527T>C (p.Asn509=) c.1245T>C (p.Asn415=) c.1754T>C (p.Ile585Thr) c.1229T>C (p.Ile410Thr) c.1472T>C (p.Ile491Thr) c.*4T>C (n.*4T>C) c.1715T>C (p.Ile572Thr) c.1763T>C (p.Ile588Thr) c.1760T>C (p.Ile587Thr) c.1727T>C (p.Ile576Thr) c.1233T>C (p.Asn411=) c.978T>C (p.Asn326=) | |
3 | g.189894225T>G | CA355751152 | TP63 | c.1766T>G (p.Ile589Ser) c.1484T>G (p.Ile495Ser) c.1527T>G (p.Asn509Lys) c.1245T>G (p.Asn415Lys) c.1754T>G (p.Ile585Ser) c.1229T>G (p.Ile410Ser) c.1472T>G (p.Ile491Ser) c.*4T>G (n.*4T>G) c.1715T>G (p.Ile572Ser) c.1763T>G (p.Ile588Ser) c.1760T>G (p.Ile587Ser) c.1727T>G (p.Ile576Ser) c.1233T>G (p.Asn411Lys) c.978T>G (p.Asn326Lys) | |
3 | g.189894226C>A | CA355751153 | TP63 | c.1767C>A (p.Ile589=) c.1485C>A (p.Ile495=) c.1528C>A (p.Pro510Thr) c.1246C>A (p.Pro416Thr) c.1755C>A (p.Ile585=) c.1230C>A (p.Ile410=) c.1473C>A (p.Ile491=) c.*5C>A (n.*5C>A) c.1716C>A (p.Ile572=) c.1764C>A (p.Ile588=) c.1761C>A (p.Ile587=) c.1728C>A (p.Ile576=) c.1234C>A (p.Pro412Thr) c.979C>A (p.Pro327Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894226C= | CA1428535198 | TP63 | c.1767C= (p.Ile589=) c.1485C= (p.Ile495=) c.1528C= (p.Pro510=) c.1246C= (p.Pro416=) c.1755C= (p.Ile585=) c.1230C= (p.Ile410=) c.1473C= (p.Ile491=) c.*5C= (n.*5C=) c.1716C= (p.Ile572=) c.1764C= (p.Ile588=) c.1761C= (p.Ile587=) c.1728C= (p.Ile576=) c.1234C= (p.Pro412=) c.979C= (p.Pro327=) | |
3 | g.189894226C>G | CA355751154 | TP63 | c.1767C>G (p.Ile589Met) c.1485C>G (p.Ile495Met) c.1528C>G (p.Pro510Ala) c.1246C>G (p.Pro416Ala) c.1755C>G (p.Ile585Met) c.1230C>G (p.Ile410Met) c.1473C>G (p.Ile491Met) c.*5C>G (n.*5C>G) c.1716C>G (p.Ile572Met) c.1764C>G (p.Ile588Met) c.1761C>G (p.Ile587Met) c.1728C>G (p.Ile576Met) c.1234C>G (p.Pro412Ala) c.979C>G (p.Pro327Ala) | dbSNP |
3 | g.189894226C>T | CA355751155 | TP63 | c.1767C>T (p.Ile589=) c.1485C>T (p.Ile495=) c.1528C>T (p.Pro510Ser) c.1246C>T (p.Pro416Ser) c.1755C>T (p.Ile585=) c.1230C>T (p.Ile410=) c.1473C>T (p.Ile491=) c.*5C>T (n.*5C>T) c.1716C>T (p.Ile572=) c.1764C>T (p.Ile588=) c.1761C>T (p.Ile587=) c.1728C>T (p.Ile576=) c.1234C>T (p.Pro412Ser) c.979C>T (p.Pro327Ser) | dbSNP COSMIC COSMIC |
3 | g.189894227C>A | CA355751156 | TP63 | c.1768C>A (p.Pro590Thr) c.1486C>A (p.Pro496Thr) c.1529C>A (p.Pro510His) c.1247C>A (p.Pro416His) c.1756C>A (p.Pro586Thr) c.1231C>A (p.Pro411Thr) c.1474C>A (p.Pro492Thr) c.*6C>A (n.*6C>A) c.1717C>A (p.Pro573Thr) c.1765C>A (p.Pro589Thr) c.1762C>A (p.Pro588Thr) c.1729C>A (p.Pro577Thr) c.1235C>A (p.Pro412His) c.980C>A (p.Pro327His) | |
3 | g.189894227C= | CA1428535199 | TP63 | c.1768C= (p.Pro590=) c.1486C= (p.Pro496=) c.1529C= (p.Pro510=) c.1247C= (p.Pro416=) c.1756C= (p.Pro586=) c.1231C= (p.Pro411=) c.1474C= (p.Pro492=) c.*6C= (n.*6C=) c.1717C= (p.Pro573=) c.1765C= (p.Pro589=) c.1762C= (p.Pro588=) c.1729C= (p.Pro577=) c.1235C= (p.Pro412=) c.980C= (p.Pro327=) | |
3 | g.189894227C>G | CA355751157 | TP63 | c.1768C>G (p.Pro590Ala) c.1486C>G (p.Pro496Ala) c.1529C>G (p.Pro510Arg) c.1247C>G (p.Pro416Arg) c.1756C>G (p.Pro586Ala) c.1231C>G (p.Pro411Ala) c.1474C>G (p.Pro492Ala) c.*6C>G (n.*6C>G) c.1717C>G (p.Pro573Ala) c.1765C>G (p.Pro589Ala) c.1762C>G (p.Pro588Ala) c.1729C>G (p.Pro577Ala) c.1235C>G (p.Pro412Arg) c.980C>G (p.Pro327Arg) | |
3 | g.189894227C>T | CA355751158 | TP63 | c.1768C>T (p.Pro590Ser) c.1486C>T (p.Pro496Ser) c.1529C>T (p.Pro510Leu) c.1247C>T (p.Pro416Leu) c.1756C>T (p.Pro586Ser) c.1231C>T (p.Pro411Ser) c.1474C>T (p.Pro492Ser) c.*6C>T (n.*6C>T) c.1717C>T (p.Pro573Ser) c.1765C>T (p.Pro589Ser) c.1762C>T (p.Pro588Ser) c.1729C>T (p.Pro577Ser) c.1235C>T (p.Pro412Leu) c.980C>T (p.Pro327Leu) | ClinVar dbSNP |
3 | g.189894228C>A | CA355751161 | TP63 | c.1769C>A (p.Pro590His) c.1487C>A (p.Pro496His) c.1530C>A (p.Pro510=) c.1248C>A (p.Pro416=) c.1757C>A (p.Pro586His) c.1232C>A (p.Pro411His) c.1475C>A (p.Pro492His) c.*7C>A (n.*7C>A) c.1718C>A (p.Pro573His) c.1766C>A (p.Pro589His) c.1763C>A (p.Pro588His) c.1730C>A (p.Pro577His) c.1236C>A (p.Pro412=) c.981C>A (p.Pro327=) | dbSNP |
3 | g.189894228C>G | CA355751160 | TP63 | c.1769C>G (p.Pro590Arg) c.1487C>G (p.Pro496Arg) c.1530C>G (p.Pro510=) c.1248C>G (p.Pro416=) c.1757C>G (p.Pro586Arg) c.1232C>G (p.Pro411Arg) c.1475C>G (p.Pro492Arg) c.*7C>G (n.*7C>G) c.1718C>G (p.Pro573Arg) c.1766C>G (p.Pro589Arg) c.1763C>G (p.Pro588Arg) c.1730C>G (p.Pro577Arg) c.1236C>G (p.Pro412=) c.981C>G (p.Pro327=) | dbSNP |
3 | g.189894228C>T | CA355751159 | TP63 | c.1769C>T (p.Pro590Leu) c.1487C>T (p.Pro496Leu) c.1530C>T (p.Pro510=) c.1248C>T (p.Pro416=) c.1757C>T (p.Pro586Leu) c.1232C>T (p.Pro411Leu) c.1475C>T (p.Pro492Leu) c.*7C>T (n.*7C>T) c.1718C>T (p.Pro573Leu) c.1766C>T (p.Pro589Leu) c.1763C>T (p.Pro588Leu) c.1730C>T (p.Pro577Leu) c.1236C>T (p.Pro412=) c.981C>T (p.Pro327=) | ClinVar dbSNP |
3 | g.189894229T>A | CA355751162 | TP63 | c.1770T>A (p.Pro590=) c.1488T>A (p.Pro496=) c.1531T>A (p.Ter511Arg) c.1249T>A (p.Ter417Arg) c.1758T>A (p.Pro586=) c.1233T>A (p.Pro411=) c.1476T>A (p.Pro492=) c.*8T>A (n.*8T>A) c.1719T>A (p.Pro573=) c.1767T>A (p.Pro589=) c.1764T>A (p.Pro588=) c.1731T>A (p.Pro577=) c.1237T>A (p.Ter413Arg) c.982T>A (p.Ter328Arg) | dbSNP |
3 | g.189894229T>C | CA2752574 | TP63 | c.1770T>C (p.Pro590=) c.1488T>C (p.Pro496=) c.1531T>C (p.Ter511Arg) c.1249T>C (p.Ter417Arg) c.1758T>C (p.Pro586=) c.1233T>C (p.Pro411=) c.1476T>C (p.Pro492=) c.*8T>C (n.*8T>C) c.1719T>C (p.Pro573=) c.1767T>C (p.Pro589=) c.1764T>C (p.Pro588=) c.1731T>C (p.Pro577=) c.1237T>C (p.Ter413Arg) c.982T>C (p.Ter328Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.189894229T>G | CA355751163 | TP63 | c.1770T>G (p.Pro590=) c.1488T>G (p.Pro496=) c.1531T>G (p.Ter511Gly) c.1249T>G (p.Ter417Gly) c.1758T>G (p.Pro586=) c.1233T>G (p.Pro411=) c.1476T>G (p.Pro492=) c.*8T>G (n.*8T>G) c.1719T>G (p.Pro573=) c.1767T>G (p.Pro589=) c.1764T>G (p.Pro588=) c.1731T>G (p.Pro577=) c.1237T>G (p.Ter413Gly) c.982T>G (p.Ter328Gly) | |
3 | g.189894229T= | CA1428535200 | TP63 | c.1770T= (p.Pro590=) c.1488T= (p.Pro496=) c.1531T= (p.Ter511=) c.1249T= (p.Ter417=) c.1758T= (p.Pro586=) c.1233T= (p.Pro411=) c.1476T= (p.Pro492=) c.*8T= (n.*8T=) c.1719T= (p.Pro573=) c.1767T= (p.Pro589=) c.1764T= (p.Pro588=) c.1731T= (p.Pro577=) c.1237T= (p.Ter413=) c.982T= (p.Ter328=) | |
3 | g.189894230G>A | CA355751164 | TP63 | c.1771G>A (p.Glu591Lys) c.1489G>A (p.Glu497Lys) c.1532G>A (p.Ter511=) c.1250G>A (p.Ter417=) c.1759G>A (p.Glu587Lys) c.1234G>A (p.Glu412Lys) c.1477G>A (p.Glu493Lys) c.*9G>A (n.*9G>A) c.1720G>A (p.Glu574Lys) c.1768G>A (p.Glu590Lys) c.1765G>A (p.Glu589Lys) c.1732G>A (p.Glu578Lys) c.1238G>A (p.Ter413=) c.983G>A (p.Ter328=) | dbSNP |
3 | g.189894230G>C | CA355751165 | TP63 | c.1771G>C (p.Glu591Gln) c.1489G>C (p.Glu497Gln) c.1532G>C (p.Ter511Ser) c.1250G>C (p.Ter417Ser) c.1759G>C (p.Glu587Gln) c.1234G>C (p.Glu412Gln) c.1477G>C (p.Glu493Gln) c.*9G>C (n.*9G>C) c.1720G>C (p.Glu574Gln) c.1768G>C (p.Glu590Gln) c.1765G>C (p.Glu589Gln) c.1732G>C (p.Glu578Gln) c.1238G>C (p.Ter413Ser) c.983G>C (p.Ter328Ser) | dbSNP |
3 | g.189894230G>T | CA355751166 | TP63 | c.1771G>T (p.Glu591Ter) c.1489G>T (p.Glu497Ter) c.1532G>T (p.Ter511Leu) c.1250G>T (p.Ter417Leu) c.1759G>T (p.Glu587Ter) c.1234G>T (p.Glu412Ter) c.1477G>T (p.Glu493Ter) c.*9G>T (n.*9G>T) c.1720G>T (p.Glu574Ter) c.1768G>T (p.Glu590Ter) c.1765G>T (p.Glu589Ter) c.1732G>T (p.Glu578Ter) c.1238G>T (p.Ter413Leu) c.983G>T (p.Ter328Leu) | dbSNP |
3 | g.189894231A>C | CA355751169 | TP63 | c.1772A>C (p.Glu591Ala) c.1490A>C (p.Glu497Ala) c.1533A>C (p.Ter511Cys) c.1251A>C (p.Ter417Cys) c.1760A>C (p.Glu587Ala) c.1235A>C (p.Glu412Ala) c.1478A>C (p.Glu493Ala) c.*10A>C (n.*10A>C) c.1721A>C (p.Glu574Ala) c.1769A>C (p.Glu590Ala) c.1766A>C (p.Glu589Ala) c.1733A>C (p.Glu578Ala) c.1239A>C (p.Ter413Cys) c.984A>C (p.Ter328Cys) | |
3 | g.189894231A>G | CA355751167 | TP63 | c.1772A>G (p.Glu591Gly) c.1490A>G (p.Glu497Gly) c.1533A>G (p.Ter511Trp) c.1251A>G (p.Ter417Trp) c.1760A>G (p.Glu587Gly) c.1235A>G (p.Glu412Gly) c.1478A>G (p.Glu493Gly) c.*10A>G (n.*10A>G) c.1721A>G (p.Glu574Gly) c.1769A>G (p.Glu590Gly) c.1766A>G (p.Glu589Gly) c.1733A>G (p.Glu578Gly) c.1239A>G (p.Ter413Trp) c.984A>G (p.Ter328Trp) | dbSNP |
3 | g.189894231A>T | CA355751168 | TP63 | c.1772A>T (p.Glu591Val) c.1490A>T (p.Glu497Val) c.1533A>T (p.Ter511Cys) c.1251A>T (p.Ter417Cys) c.1760A>T (p.Glu587Val) c.1235A>T (p.Glu412Val) c.1478A>T (p.Glu493Val) c.*10A>T (n.*10A>T) c.1721A>T (p.Glu574Val) c.1769A>T (p.Glu590Val) c.1766A>T (p.Glu589Val) c.1733A>T (p.Glu578Val) c.1239A>T (p.Ter413Cys) c.984A>T (p.Ter328Cys) | dbSNP |
3 | g.189894232G>A | CA437636979 | TP63 | c.1773G>A (p.Glu591=) c.1491G>A (p.Glu497=) c.*1G>A (n.*1G>A) c.1761G>A (p.Glu587=) c.1236G>A (p.Glu412=) c.1479G>A (p.Glu493=) c.*11G>A (n.*11G>A) c.1722G>A (p.Glu574=) c.1770G>A (p.Glu590=) c.1767G>A (p.Glu589=) c.1734G>A (p.Glu578=) | dbSNP |
3 | g.189894232G>C | CA355751170 | TP63 | c.1773G>C (p.Glu591Asp) c.1491G>C (p.Glu497Asp) c.*1G>C (n.*1G>C) c.1761G>C (p.Glu587Asp) c.1236G>C (p.Glu412Asp) c.1479G>C (p.Glu493Asp) c.*11G>C (n.*11G>C) c.1722G>C (p.Glu574Asp) c.1770G>C (p.Glu590Asp) c.1767G>C (p.Glu589Asp) c.1734G>C (p.Glu578Asp) | dbSNP |
3 | g.189894232G>T | CA355751171 | TP63 | c.1773G>T (p.Glu591Asp) c.1491G>T (p.Glu497Asp) c.*1G>T (n.*1G>T) c.1761G>T (p.Glu587Asp) c.1236G>T (p.Glu412Asp) c.1479G>T (p.Glu493Asp) c.*11G>T (n.*11G>T) c.1722G>T (p.Glu574Asp) c.1770G>T (p.Glu590Asp) c.1767G>T (p.Glu589Asp) c.1734G>T (p.Glu578Asp) | dbSNP |
3 | g.189894233C>A | CA355751172 | TP63 | c.1774C>A (p.Gln592Lys) c.1492C>A (p.Gln498Lys) c.*2C>A (n.*2C>A) c.1762C>A (p.Gln588Lys) c.1237C>A (p.Gln413Lys) c.1480C>A (p.Gln494Lys) c.*12C>A (n.*12C>A) c.1723C>A (p.Gln575Lys) c.1771C>A (p.Gln591Lys) c.1768C>A (p.Gln590Lys) c.1735C>A (p.Gln579Lys) | |
3 | g.189894233C>G | CA355751173 | TP63 | c.1774C>G (p.Gln592Glu) c.1492C>G (p.Gln498Glu) c.*2C>G (n.*2C>G) c.1762C>G (p.Gln588Glu) c.1237C>G (p.Gln413Glu) c.1480C>G (p.Gln494Glu) c.*12C>G (n.*12C>G) c.1723C>G (p.Gln575Glu) c.1771C>G (p.Gln591Glu) c.1768C>G (p.Gln590Glu) c.1735C>G (p.Gln579Glu) | dbSNP gnomAD v4 |
3 | g.189894233C>T | CA355751174 | TP63 | c.1774C>T (p.Gln592Ter) c.1492C>T (p.Gln498Ter) c.*2C>T (n.*2C>T) c.1762C>T (p.Gln588Ter) c.1237C>T (p.Gln413Ter) c.1480C>T (p.Gln494Ter) c.*12C>T (n.*12C>T) c.1723C>T (p.Gln575Ter) c.1771C>T (p.Gln591Ter) c.1768C>T (p.Gln590Ter) c.1735C>T (p.Gln579Ter) | dbSNP |
3 | g.189894234A>C | CA355751177 | TP63 | c.1775A>C (p.Gln592Pro) c.1493A>C (p.Gln498Pro) c.*3A>C (n.*3A>C) c.1763A>C (p.Gln588Pro) c.1238A>C (p.Gln413Pro) c.1481A>C (p.Gln494Pro) c.*13A>C (n.*13A>C) c.1724A>C (p.Gln575Pro) c.1772A>C (p.Gln591Pro) c.1769A>C (p.Gln590Pro) c.1736A>C (p.Gln579Pro) | |
3 | g.189894234A>G | CA355751175 | TP63 | c.1775A>G (p.Gln592Arg) c.1493A>G (p.Gln498Arg) c.*3A>G (n.*3A>G) c.1763A>G (p.Gln588Arg) c.1238A>G (p.Gln413Arg) c.1481A>G (p.Gln494Arg) c.*13A>G (n.*13A>G) c.1724A>G (p.Gln575Arg) c.1772A>G (p.Gln591Arg) c.1769A>G (p.Gln590Arg) c.1736A>G (p.Gln579Arg) | dbSNP |
3 | g.189894234A>T | CA355751176 | TP63 | c.1775A>T (p.Gln592Leu) c.1493A>T (p.Gln498Leu) c.*3A>T (n.*3A>T) c.1763A>T (p.Gln588Leu) c.1238A>T (p.Gln413Leu) c.1481A>T (p.Gln494Leu) c.*13A>T (n.*13A>T) c.1724A>T (p.Gln575Leu) c.1772A>T (p.Gln591Leu) c.1769A>T (p.Gln590Leu) c.1736A>T (p.Gln579Leu) | |
3 | g.189894235A>C | CA355751178 | TP63 | c.1776A>C (p.Gln592His) c.1494A>C (p.Gln498His) c.*4A>C (n.*4A>C) c.1764A>C (p.Gln588His) c.1239A>C (p.Gln413His) c.1482A>C (p.Gln494His) c.*14A>C (n.*14A>C) c.1725A>C (p.Gln575His) c.1773A>C (p.Gln591His) c.1770A>C (p.Gln590His) c.1737A>C (p.Gln579His) | |
3 | g.189894235A>G | CA437636983 | TP63 | c.1776A>G (p.Gln592=) c.1494A>G (p.Gln498=) c.*4A>G (n.*4A>G) c.1764A>G (p.Gln588=) c.1239A>G (p.Gln413=) c.1482A>G (p.Gln494=) c.*14A>G (n.*14A>G) c.1725A>G (p.Gln575=) c.1773A>G (p.Gln591=) c.1770A>G (p.Gln590=) c.1737A>G (p.Gln579=) | dbSNP |
3 | g.189894235A>T | CA355751179 | TP63 | c.1776A>T (p.Gln592His) c.1494A>T (p.Gln498His) c.*4A>T (n.*4A>T) c.1764A>T (p.Gln588His) c.1239A>T (p.Gln413His) c.1482A>T (p.Gln494His) c.*14A>T (n.*14A>T) c.1725A>T (p.Gln575His) c.1773A>T (p.Gln591His) c.1770A>T (p.Gln590His) c.1737A>T (p.Gln579His) | dbSNP |
3 | g.189894236T>A | CA355751180 | TP63 | c.1777T>A (p.Phe593Ile) c.1495T>A (p.Phe499Ile) c.*5T>A (n.*5T>A) c.1765T>A (p.Phe589Ile) c.1240T>A (p.Phe414Ile) c.1483T>A (p.Phe495Ile) c.*15T>A (n.*15T>A) c.1726T>A (p.Phe576Ile) c.1774T>A (p.Phe592Ile) c.1771T>A (p.Phe591Ile) c.1738T>A (p.Phe580Ile) | dbSNP |
3 | g.189894236T>C | CA355751181 | TP63 | c.1777T>C (p.Phe593Leu) c.1495T>C (p.Phe499Leu) c.*5T>C (n.*5T>C) c.1765T>C (p.Phe589Leu) c.1240T>C (p.Phe414Leu) c.1483T>C (p.Phe495Leu) c.*15T>C (n.*15T>C) c.1726T>C (p.Phe576Leu) c.1774T>C (p.Phe592Leu) c.1771T>C (p.Phe591Leu) c.1738T>C (p.Phe580Leu) | dbSNP |
3 | g.189894236T>G | CA355751182 | TP63 | c.1777T>G (p.Phe593Val) c.1495T>G (p.Phe499Val) c.*5T>G (n.*5T>G) c.1765T>G (p.Phe589Val) c.1240T>G (p.Phe414Val) c.1483T>G (p.Phe495Val) c.*15T>G (n.*15T>G) c.1726T>G (p.Phe576Val) c.1774T>G (p.Phe592Val) c.1771T>G (p.Phe591Val) c.1738T>G (p.Phe580Val) | dbSNP |
3 | g.189894237T>A | CA355751183 | TP63 | c.1778T>A (p.Phe593Tyr) c.1496T>A (p.Phe499Tyr) c.*6T>A (n.*6T>A) c.1766T>A (p.Phe589Tyr) c.1241T>A (p.Phe414Tyr) c.1484T>A (p.Phe495Tyr) c.*16T>A (n.*16T>A) c.1727T>A (p.Phe576Tyr) c.1775T>A (p.Phe592Tyr) c.1772T>A (p.Phe591Tyr) c.1739T>A (p.Phe580Tyr) | dbSNP |
3 | g.189894237T>C | CA355751184 | TP63 | c.1778T>C (p.Phe593Ser) c.1496T>C (p.Phe499Ser) c.*6T>C (n.*6T>C) c.1766T>C (p.Phe589Ser) c.1241T>C (p.Phe414Ser) c.1484T>C (p.Phe495Ser) c.*16T>C (n.*16T>C) c.1727T>C (p.Phe576Ser) c.1775T>C (p.Phe592Ser) c.1772T>C (p.Phe591Ser) c.1739T>C (p.Phe580Ser) | |
3 | g.189894237T>G | CA355751185 | TP63 | c.1778T>G (p.Phe593Cys) c.1496T>G (p.Phe499Cys) c.*6T>G (n.*6T>G) c.1766T>G (p.Phe589Cys) c.1241T>G (p.Phe414Cys) c.1484T>G (p.Phe495Cys) c.*16T>G (n.*16T>G) c.1727T>G (p.Phe576Cys) c.1775T>G (p.Phe592Cys) c.1772T>G (p.Phe591Cys) c.1739T>G (p.Phe580Cys) | |
3 | g.189894238T>A | CA2752575 | TP63 | c.1779T>A (p.Phe593Leu) c.1497T>A (p.Phe499Leu) c.*7T>A (n.*7T>A) c.1767T>A (p.Phe589Leu) c.1242T>A (p.Phe414Leu) c.1485T>A (p.Phe495Leu) c.*17T>A (n.*17T>A) c.1728T>A (p.Phe576Leu) c.1776T>A (p.Phe592Leu) c.1773T>A (p.Phe591Leu) c.1740T>A (p.Phe580Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.189894238T>C | CA437636987 | TP63 | c.1779T>C (p.Phe593=) c.1497T>C (p.Phe499=) c.*7T>C (n.*7T>C) c.1767T>C (p.Phe589=) c.1242T>C (p.Phe414=) c.1485T>C (p.Phe495=) c.*17T>C (n.*17T>C) c.1728T>C (p.Phe576=) c.1776T>C (p.Phe592=) c.1773T>C (p.Phe591=) c.1740T>C (p.Phe580=) | |
3 | g.189894238T>G | CA355751186 | TP63 | c.1779T>G (p.Phe593Leu) c.1497T>G (p.Phe499Leu) c.*7T>G (n.*7T>G) c.1767T>G (p.Phe589Leu) c.1242T>G (p.Phe414Leu) c.1485T>G (p.Phe495Leu) c.*17T>G (n.*17T>G) c.1728T>G (p.Phe576Leu) c.1776T>G (p.Phe592Leu) c.1773T>G (p.Phe591Leu) c.1740T>G (p.Phe580Leu) | |
3 | g.189894238T= | CA1428535201 | TP63 | c.1779T= (p.Phe593=) c.1497T= (p.Phe499=) c.*7T= (n.*7T=) c.1767T= (p.Phe589=) c.1242T= (p.Phe414=) c.1485T= (p.Phe495=) c.*17T= (n.*17T=) c.1728T= (p.Phe576=) c.1776T= (p.Phe592=) c.1773T= (p.Phe591=) c.1740T= (p.Phe580=) | |
3 | g.189894239C>A | CA89713240 | TP63 | c.1780C>A (p.Arg594=) c.1498C>A (p.Arg500=) c.*8C>A (n.*8C>A) c.1768C>A (p.Arg590=) c.1243C>A (p.Arg415=) c.1486C>A (p.Arg496=) c.*18C>A (n.*18C>A) c.1729C>A (p.Arg577=) c.1777C>A (p.Arg593=) c.1774C>A (p.Arg592=) c.1741C>A (p.Arg581=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894239C= | CA1428535202 | TP63 | c.1780C= (p.Arg594=) c.1498C= (p.Arg500=) c.*8C= (n.*8C=) c.1768C= (p.Arg590=) c.1243C= (p.Arg415=) c.1486C= (p.Arg496=) c.*18C= (n.*18C=) c.1729C= (p.Arg577=) c.1777C= (p.Arg593=) c.1774C= (p.Arg592=) c.1741C= (p.Arg581=) | |
3 | g.189894239C>G | CA355751187 | TP63 | c.1780C>G (p.Arg594Gly) c.1498C>G (p.Arg500Gly) c.*8C>G (n.*8C>G) c.1768C>G (p.Arg590Gly) c.1243C>G (p.Arg415Gly) c.1486C>G (p.Arg496Gly) c.*18C>G (n.*18C>G) c.1729C>G (p.Arg577Gly) c.1777C>G (p.Arg593Gly) c.1774C>G (p.Arg592Gly) c.1741C>G (p.Arg581Gly) | dbSNP |
3 | g.189894239C>T | CA355751188 | TP63 | c.1780C>T (p.Arg594Ter) c.1498C>T (p.Arg500Ter) c.*8C>T (n.*8C>T) c.1768C>T (p.Arg590Ter) c.1243C>T (p.Arg415Ter) c.1486C>T (p.Arg496Ter) c.*18C>T (n.*18C>T) c.1729C>T (p.Arg577Ter) c.1777C>T (p.Arg593Ter) c.1774C>T (p.Arg592Ter) c.1741C>T (p.Arg581Ter) | ClinVar dbSNP COSMIC COSMIC |
3 | g.189894240G>A | CA2752576 | TP63 | c.1781G>A (p.Arg594Gln) c.1499G>A (p.Arg500Gln) c.*9G>A (n.*9G>A) c.1769G>A (p.Arg590Gln) c.1244G>A (p.Arg415Gln) c.1487G>A (p.Arg496Gln) c.*19G>A (n.*19G>A) c.1730G>A (p.Arg577Gln) c.1778G>A (p.Arg593Gln) c.1775G>A (p.Arg592Gln) c.1742G>A (p.Arg581Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894240G>C | CA355751190 | TP63 | c.1781G>C (p.Arg594Pro) c.1499G>C (p.Arg500Pro) c.*9G>C (n.*9G>C) c.1769G>C (p.Arg590Pro) c.1244G>C (p.Arg415Pro) c.1487G>C (p.Arg496Pro) c.*19G>C (n.*19G>C) c.1730G>C (p.Arg577Pro) c.1778G>C (p.Arg593Pro) c.1775G>C (p.Arg592Pro) c.1742G>C (p.Arg581Pro) | dbSNP |
3 | g.189894240G= | CA1428535203 | TP63 | c.1781G= (p.Arg594=) c.1499G= (p.Arg500=) c.*9G= (n.*9G=) c.1769G= (p.Arg590=) c.1244G= (p.Arg415=) c.1487G= (p.Arg496=) c.*19G= (n.*19G=) c.1730G= (p.Arg577=) c.1778G= (p.Arg593=) c.1775G= (p.Arg592=) c.1742G= (p.Arg581=) | |
3 | g.189894240G>T | CA355751189 | TP63 | c.1781G>T (p.Arg594Leu) c.1499G>T (p.Arg500Leu) c.*9G>T (n.*9G>T) c.1769G>T (p.Arg590Leu) c.1244G>T (p.Arg415Leu) c.1487G>T (p.Arg496Leu) c.*19G>T (n.*19G>T) c.1730G>T (p.Arg577Leu) c.1778G>T (p.Arg593Leu) c.1775G>T (p.Arg592Leu) c.1742G>T (p.Arg581Leu) | dbSNP |
3 | g.189894241A= | CA1428535204 | TP63 | c.1782A= (p.Arg594=) c.1500A= (p.Arg500=) c.*10A= (n.*10A=) c.1770A= (p.Arg590=) c.1245A= (p.Arg415=) c.1488A= (p.Arg496=) c.*20A= (n.*20A=) c.1731A= (p.Arg577=) c.1779A= (p.Arg593=) c.1776A= (p.Arg592=) c.1743A= (p.Arg581=) | |
3 | g.189894241A>C | CA437636990 | TP63 | c.1782A>C (p.Arg594=) c.1500A>C (p.Arg500=) c.*10A>C (n.*10A>C) c.1770A>C (p.Arg590=) c.1245A>C (p.Arg415=) c.1488A>C (p.Arg496=) c.*20A>C (n.*20A>C) c.1731A>C (p.Arg577=) c.1779A>C (p.Arg593=) c.1776A>C (p.Arg592=) c.1743A>C (p.Arg581=) | |
3 | g.189894241A>G | CA437636991 | TP63 | c.1782A>G (p.Arg594=) c.1500A>G (p.Arg500=) c.*10A>G (n.*10A>G) c.1770A>G (p.Arg590=) c.1245A>G (p.Arg415=) c.1488A>G (p.Arg496=) c.*20A>G (n.*20A>G) c.1731A>G (p.Arg577=) c.1779A>G (p.Arg593=) c.1776A>G (p.Arg592=) c.1743A>G (p.Arg581=) | gnomAD v4 |
3 | g.189894241A>T | CA89713246 | TP63 | c.1782A>T (p.Arg594=) c.1500A>T (p.Arg500=) c.*10A>T (n.*10A>T) c.1770A>T (p.Arg590=) c.1245A>T (p.Arg415=) c.1488A>T (p.Arg496=) c.*20A>T (n.*20A>T) c.1731A>T (p.Arg577=) c.1779A>T (p.Arg593=) c.1776A>T (p.Arg592=) c.1743A>T (p.Arg581=) | dbSNP |
3 | g.189894242C>A | CA355751191 | TP63 | c.1783C>A (p.His595Asn) c.1501C>A (p.His501Asn) c.*11C>A (n.*11C>A) c.1771C>A (p.His591Asn) c.1246C>A (p.His416Asn) c.1489C>A (p.His497Asn) c.*21C>A (n.*21C>A) c.1732C>A (p.His578Asn) c.1780C>A (p.His594Asn) c.1777C>A (p.His593Asn) c.1744C>A (p.His582Asn) | dbSNP |
3 | g.189894242C>G | CA355751192 | TP63 | c.1783C>G (p.His595Asp) c.1501C>G (p.His501Asp) c.*11C>G (n.*11C>G) c.1771C>G (p.His591Asp) c.1246C>G (p.His416Asp) c.1489C>G (p.His497Asp) c.*21C>G (n.*21C>G) c.1732C>G (p.His578Asp) c.1780C>G (p.His594Asp) c.1777C>G (p.His593Asp) c.1744C>G (p.His582Asp) | dbSNP |
3 | g.189894242C>T | CA355751193 | TP63 | c.1783C>T (p.His595Tyr) c.1501C>T (p.His501Tyr) c.*11C>T (n.*11C>T) c.1771C>T (p.His591Tyr) c.1246C>T (p.His416Tyr) c.1489C>T (p.His497Tyr) c.*21C>T (n.*21C>T) c.1732C>T (p.His578Tyr) c.1780C>T (p.His594Tyr) c.1777C>T (p.His593Tyr) c.1744C>T (p.His582Tyr) | dbSNP |
3 | g.189894243A>C | CA355751194 | TP63 | c.1784A>C (p.His595Pro) c.1502A>C (p.His501Pro) c.*12A>C (n.*12A>C) c.1772A>C (p.His591Pro) c.1247A>C (p.His416Pro) c.1490A>C (p.His497Pro) c.*22A>C (n.*22A>C) c.1733A>C (p.His578Pro) c.1781A>C (p.His594Pro) c.1778A>C (p.His593Pro) c.1745A>C (p.His582Pro) | |
3 | g.189894243A>G | CA355751195 | TP63 | c.1784A>G (p.His595Arg) c.1502A>G (p.His501Arg) c.*12A>G (n.*12A>G) c.1772A>G (p.His591Arg) c.1247A>G (p.His416Arg) c.1490A>G (p.His497Arg) c.*22A>G (n.*22A>G) c.1733A>G (p.His578Arg) c.1781A>G (p.His594Arg) c.1778A>G (p.His593Arg) c.1745A>G (p.His582Arg) | |
3 | g.189894243A>T | CA355751196 | TP63 | c.1784A>T (p.His595Leu) c.1502A>T (p.His501Leu) c.*12A>T (n.*12A>T) c.1772A>T (p.His591Leu) c.1247A>T (p.His416Leu) c.1490A>T (p.His497Leu) c.*22A>T (n.*22A>T) c.1733A>T (p.His578Leu) c.1781A>T (p.His594Leu) c.1778A>T (p.His593Leu) c.1745A>T (p.His582Leu) | dbSNP |
3 | g.189894244T>A | CA355751197 | TP63 | c.1785T>A (p.His595Gln) c.1503T>A (p.His501Gln) c.*13T>A (n.*13T>A) c.1773T>A (p.His591Gln) c.1248T>A (p.His416Gln) c.1491T>A (p.His497Gln) c.*23T>A (n.*23T>A) c.1734T>A (p.His578Gln) c.1782T>A (p.His594Gln) c.1779T>A (p.His593Gln) c.1746T>A (p.His582Gln) | dbSNP |
3 | g.189894244T>C | CA437636996 | TP63 | c.1785T>C (p.His595=) c.1503T>C (p.His501=) c.*13T>C (n.*13T>C) c.1773T>C (p.His591=) c.1248T>C (p.His416=) c.1491T>C (p.His497=) c.*23T>C (n.*23T>C) c.1734T>C (p.His578=) c.1782T>C (p.His594=) c.1779T>C (p.His593=) c.1746T>C (p.His582=) | gnomAD v4 |
3 | g.189894244T>G | CA355751198 | TP63 | c.1785T>G (p.His595Gln) c.1503T>G (p.His501Gln) c.*13T>G (n.*13T>G) c.1773T>G (p.His591Gln) c.1248T>G (p.His416Gln) c.1491T>G (p.His497Gln) c.*23T>G (n.*23T>G) c.1734T>G (p.His578Gln) c.1782T>G (p.His594Gln) c.1779T>G (p.His593Gln) c.1746T>G (p.His582Gln) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.189894244T= | CA1428535205 | TP63 | c.1785T= (p.His595=) c.1503T= (p.His501=) c.*13T= (n.*13T=) c.1773T= (p.His591=) c.1248T= (p.His416=) c.1491T= (p.His497=) c.*23T= (n.*23T=) c.1734T= (p.His578=) c.1782T= (p.His594=) c.1779T= (p.His593=) c.1746T= (p.His582=) | |
3 | g.189894245G>A | CA355751199 | TP63 | c.1786G>A (p.Ala596Thr) c.1504G>A (p.Ala502Thr) c.*14G>A (n.*14G>A) c.1774G>A (p.Ala592Thr) c.1249G>A (p.Ala417Thr) c.1492G>A (p.Ala498Thr) c.*24G>A (n.*24G>A) c.1735G>A (p.Ala579Thr) c.1783G>A (p.Ala595Thr) c.1780G>A (p.Ala594Thr) c.1747G>A (p.Ala583Thr) | dbSNP |
3 | g.189894245G>C | CA355751200 | TP63 | c.1786G>C (p.Ala596Pro) c.1504G>C (p.Ala502Pro) c.*14G>C (n.*14G>C) c.1774G>C (p.Ala592Pro) c.1249G>C (p.Ala417Pro) c.1492G>C (p.Ala498Pro) c.*24G>C (n.*24G>C) c.1735G>C (p.Ala579Pro) c.1783G>C (p.Ala595Pro) c.1780G>C (p.Ala594Pro) c.1747G>C (p.Ala583Pro) | dbSNP |
3 | g.189894245G>T | CA355751201 | TP63 | c.1786G>T (p.Ala596Ser) c.1504G>T (p.Ala502Ser) c.*14G>T (n.*14G>T) c.1774G>T (p.Ala592Ser) c.1249G>T (p.Ala417Ser) c.1492G>T (p.Ala498Ser) c.*24G>T (n.*24G>T) c.1735G>T (p.Ala579Ser) c.1783G>T (p.Ala595Ser) c.1780G>T (p.Ala594Ser) c.1747G>T (p.Ala583Ser) | |
3 | g.189894246C>A | CA355751203 | TP63 | c.1787C>A (p.Ala596Glu) c.1505C>A (p.Ala502Glu) c.*15C>A (n.*15C>A) c.1775C>A (p.Ala592Glu) c.1250C>A (p.Ala417Glu) c.1493C>A (p.Ala498Glu) c.*25C>A (n.*25C>A) c.1736C>A (p.Ala579Glu) c.1784C>A (p.Ala595Glu) c.1781C>A (p.Ala594Glu) c.1748C>A (p.Ala583Glu) | dbSNP gnomAD v4 |
3 | g.189894246C= | CA1428535206 | TP63 | c.1787C= (p.Ala596=) c.1505C= (p.Ala502=) c.*15C= (n.*15C=) c.1775C= (p.Ala592=) c.1250C= (p.Ala417=) c.1493C= (p.Ala498=) c.*25C= (n.*25C=) c.1736C= (p.Ala579=) c.1784C= (p.Ala595=) c.1781C= (p.Ala594=) c.1748C= (p.Ala583=) | |
3 | g.189894246C>G | CA355751202 | TP63 | c.1787C>G (p.Ala596Gly) c.1505C>G (p.Ala502Gly) c.*15C>G (n.*15C>G) c.1775C>G (p.Ala592Gly) c.1250C>G (p.Ala417Gly) c.1493C>G (p.Ala498Gly) c.*25C>G (n.*25C>G) c.1736C>G (p.Ala579Gly) c.1784C>G (p.Ala595Gly) c.1781C>G (p.Ala594Gly) c.1748C>G (p.Ala583Gly) | dbSNP |
3 | g.189894246C>T | CA2752577 | TP63 | c.1787C>T (p.Ala596Val) c.1505C>T (p.Ala502Val) c.*15C>T (n.*15C>T) c.1775C>T (p.Ala592Val) c.1250C>T (p.Ala417Val) c.1493C>T (p.Ala498Val) c.*25C>T (n.*25C>T) c.1736C>T (p.Ala579Val) c.1784C>T (p.Ala595Val) c.1781C>T (p.Ala594Val) c.1748C>T (p.Ala583Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.189894247G>A | CA2752578 | TP63 | c.1788G>A (p.Ala596=) c.1506G>A (p.Ala502=) c.*16G>A (n.*16G>A) c.1776G>A (p.Ala592=) c.1251G>A (p.Ala417=) c.1494G>A (p.Ala498=) c.*26G>A (n.*26G>A) c.1737G>A (p.Ala579=) c.1785G>A (p.Ala595=) c.1782G>A (p.Ala594=) c.1749G>A (p.Ala583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.189894247G>C | CA437637000 | TP63 | c.1788G>C (p.Ala596=) c.1506G>C (p.Ala502=) c.*16G>C (n.*16G>C) c.1776G>C (p.Ala592=) c.1251G>C (p.Ala417=) c.1494G>C (p.Ala498=) c.*26G>C (n.*26G>C) c.1737G>C (p.Ala579=) c.1785G>C (p.Ala595=) c.1782G>C (p.Ala594=) c.1749G>C (p.Ala583=) | dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.189894247G= | CA1428535207 | TP63 | c.1788G= (p.Ala596=) c.1506G= (p.Ala502=) c.*16G= (n.*16G=) c.1776G= (p.Ala592=) c.1251G= (p.Ala417=) c.1494G= (p.Ala498=) c.*26G= (n.*26G=) c.1737G= (p.Ala579=) c.1785G= (p.Ala595=) c.1782G= (p.Ala594=) c.1749G= (p.Ala583=) | |
3 | g.189894247G>T | CA437637001 | TP63 | c.1788G>T (p.Ala596=) c.1506G>T (p.Ala502=) c.*16G>T (n.*16G>T) c.1776G>T (p.Ala592=) c.1251G>T (p.Ala417=) c.1494G>T (p.Ala498=) c.*26G>T (n.*26G>T) c.1737G>T (p.Ala579=) c.1785G>T (p.Ala595=) c.1782G>T (p.Ala594=) c.1749G>T (p.Ala583=) | dbSNP |
3 | g.189894248A>C | CA355751204 | TP63 | c.1789A>C (p.Ile597Leu) c.1507A>C (p.Ile503Leu) c.*17A>C (n.*17A>C) c.1777A>C (p.Ile593Leu) c.1252A>C (p.Ile418Leu) c.1495A>C (p.Ile499Leu) c.*27A>C (n.*27A>C) c.1738A>C (p.Ile580Leu) c.1786A>C (p.Ile596Leu) c.1783A>C (p.Ile595Leu) c.1750A>C (p.Ile584Leu) | dbSNP |
3 | g.189894248A>G | CA355751205 | TP63 | c.1789A>G (p.Ile597Val) c.1507A>G (p.Ile503Val) c.*17A>G (n.*17A>G) c.1777A>G (p.Ile593Val) c.1252A>G (p.Ile418Val) c.1495A>G (p.Ile499Val) c.*27A>G (n.*27A>G) c.1738A>G (p.Ile580Val) c.1786A>G (p.Ile596Val) c.1783A>G (p.Ile595Val) c.1750A>G (p.Ile584Val) | |
3 | g.189894248A>T | CA355751206 | TP63 | c.1789A>T (p.Ile597Phe) c.1507A>T (p.Ile503Phe) c.*17A>T (n.*17A>T) c.1777A>T (p.Ile593Phe) c.1252A>T (p.Ile418Phe) c.1495A>T (p.Ile499Phe) c.*27A>T (n.*27A>T) c.1738A>T (p.Ile580Phe) c.1786A>T (p.Ile596Phe) c.1783A>T (p.Ile595Phe) c.1750A>T (p.Ile584Phe) | ClinVar dbSNP |
3 | g.189894249T>A | CA355751207 | TP63 | c.1790T>A (p.Ile597Asn) c.1508T>A (p.Ile503Asn) c.*18T>A (n.*18T>A) c.1778T>A (p.Ile593Asn) c.1253T>A (p.Ile418Asn) c.1496T>A (p.Ile499Asn) c.*28T>A (n.*28T>A) c.1739T>A (p.Ile580Asn) c.1787T>A (p.Ile596Asn) c.1784T>A (p.Ile595Asn) c.1751T>A (p.Ile584Asn) | dbSNP |
3 | g.189894249T>C | CA355751208 | TP63 | c.1790T>C (p.Ile597Thr) c.1508T>C (p.Ile503Thr) c.*18T>C (n.*18T>C) c.1778T>C (p.Ile593Thr) c.1253T>C (p.Ile418Thr) c.1496T>C (p.Ile499Thr) c.*28T>C (n.*28T>C) c.1739T>C (p.Ile580Thr) c.1787T>C (p.Ile596Thr) c.1784T>C (p.Ile595Thr) c.1751T>C (p.Ile584Thr) | ClinVar dbSNP |
3 | g.189894249T>G | CA355751209 | TP63 | c.1790T>G (p.Ile597Ser) c.1508T>G (p.Ile503Ser) c.*18T>G (n.*18T>G) c.1778T>G (p.Ile593Ser) c.1253T>G (p.Ile418Ser) c.1496T>G (p.Ile499Ser) c.*28T>G (n.*28T>G) c.1739T>G (p.Ile580Ser) c.1787T>G (p.Ile596Ser) c.1784T>G (p.Ile595Ser) c.1751T>G (p.Ile584Ser) | |
3 | g.189894249T= | CA1428535208 | TP63 | c.1790T= (p.Ile597=) c.1508T= (p.Ile503=) c.*18T= (n.*18T=) c.1778T= (p.Ile593=) c.1253T= (p.Ile418=) c.1496T= (p.Ile499=) c.*28T= (n.*28T=) c.1739T= (p.Ile580=) c.1787T= (p.Ile596=) c.1784T= (p.Ile595=) c.1751T= (p.Ile584=) | |
3 | g.189894250C>A | CA437637003 | TP63 | c.1791C>A (p.Ile597=) c.1509C>A (p.Ile503=) c.*19C>A (n.*19C>A) c.1779C>A (p.Ile593=) c.1254C>A (p.Ile418=) c.1497C>A (p.Ile499=) c.*29C>A (n.*29C>A) c.1740C>A (p.Ile580=) c.1788C>A (p.Ile596=) c.1785C>A (p.Ile595=) c.1752C>A (p.Ile584=) | dbSNP |
3 | g.189894250C>G | CA355751210 | TP63 | c.1791C>G (p.Ile597Met) c.1509C>G (p.Ile503Met) c.*19C>G (n.*19C>G) c.1779C>G (p.Ile593Met) c.1254C>G (p.Ile418Met) c.1497C>G (p.Ile499Met) c.*29C>G (n.*29C>G) c.1740C>G (p.Ile580Met) c.1788C>G (p.Ile596Met) c.1785C>G (p.Ile595Met) c.1752C>G (p.Ile584Met) | dbSNP |
3 | g.189894250C>T | CA437637004 | TP63 | c.1791C>T (p.Ile597=) c.1509C>T (p.Ile503=) c.*19C>T (n.*19C>T) c.1779C>T (p.Ile593=) c.1254C>T (p.Ile418=) c.1497C>T (p.Ile499=) c.*29C>T (n.*29C>T) c.1740C>T (p.Ile580=) c.1788C>T (p.Ile596=) c.1785C>T (p.Ile595=) c.1752C>T (p.Ile584=) | dbSNP |
3 | g.189894251T>A | CA355751211 | TP63 | c.1792T>A (p.Trp598Arg) c.1510T>A (p.Trp504Arg) c.*20T>A (n.*20T>A) c.1780T>A (p.Trp594Arg) c.1255T>A (p.Trp419Arg) c.1498T>A (p.Trp500Arg) c.*30T>A (n.*30T>A) c.1741T>A (p.Trp581Arg) c.1789T>A (p.Trp597Arg) c.1786T>A (p.Trp596Arg) c.1753T>A (p.Trp585Arg) | |
3 | g.189894251T>C | CA355751212 | TP63 | c.1792T>C (p.Trp598Arg) c.1510T>C (p.Trp504Arg) c.*20T>C (n.*20T>C) c.1780T>C (p.Trp594Arg) c.1255T>C (p.Trp419Arg) c.1498T>C (p.Trp500Arg) c.*30T>C (n.*30T>C) c.1741T>C (p.Trp581Arg) c.1789T>C (p.Trp597Arg) c.1786T>C (p.Trp596Arg) c.1753T>C (p.Trp585Arg) | |
3 | g.189894251T>G | CA355751213 | TP63 | c.1792T>G (p.Trp598Gly) c.1510T>G (p.Trp504Gly) c.*20T>G (n.*20T>G) c.1780T>G (p.Trp594Gly) c.1255T>G (p.Trp419Gly) c.1498T>G (p.Trp500Gly) c.*30T>G (n.*30T>G) c.1741T>G (p.Trp581Gly) c.1789T>G (p.Trp597Gly) c.1786T>G (p.Trp596Gly) c.1753T>G (p.Trp585Gly) | |
3 | g.189894252G>A | CA355751216 | TP63 | c.1793G>A (p.Trp598Ter) c.1511G>A (p.Trp504Ter) c.*21G>A (n.*21G>A) c.1781G>A (p.Trp594Ter) c.1256G>A (p.Trp419Ter) c.1499G>A (p.Trp500Ter) c.*31G>A (n.*31G>A) c.1742G>A (p.Trp581Ter) c.1790G>A (p.Trp597Ter) c.1787G>A (p.Trp596Ter) c.1754G>A (p.Trp585Ter) | dbSNP |
3 | g.189894252G>C | CA355751215 | TP63 | c.1793G>C (p.Trp598Ser) c.1511G>C (p.Trp504Ser) c.*21G>C (n.*21G>C) c.1781G>C (p.Trp594Ser) c.1256G>C (p.Trp419Ser) c.1499G>C (p.Trp500Ser) c.*31G>C (n.*31G>C) c.1742G>C (p.Trp581Ser) c.1790G>C (p.Trp597Ser) c.1787G>C (p.Trp596Ser) c.1754G>C (p.Trp585Ser) | dbSNP |
3 | g.189894252G>T | CA355751214 | TP63 | c.1793G>T (p.Trp598Leu) c.1511G>T (p.Trp504Leu) c.*21G>T (n.*21G>T) c.1781G>T (p.Trp594Leu) c.1256G>T (p.Trp419Leu) c.1499G>T (p.Trp500Leu) c.*31G>T (n.*31G>T) c.1742G>T (p.Trp581Leu) c.1790G>T (p.Trp597Leu) c.1787G>T (p.Trp596Leu) c.1754G>T (p.Trp585Leu) | dbSNP |
3 | g.189894253G>A | CA355751217 | TP63 | c.1794G>A (p.Trp598Ter) c.1512G>A (p.Trp504Ter) c.*22G>A (n.*22G>A) c.1782G>A (p.Trp594Ter) c.1257G>A (p.Trp419Ter) c.1500G>A (p.Trp500Ter) c.*32G>A (n.*32G>A) c.1743G>A (p.Trp581Ter) c.1791G>A (p.Trp597Ter) c.1788G>A (p.Trp596Ter) c.1755G>A (p.Trp585Ter) | ClinVar dbSNP |
3 | g.189894253G>C | CA355751219 | TP63 | c.1794G>C (p.Trp598Cys) c.1512G>C (p.Trp504Cys) c.*22G>C (n.*22G>C) c.1782G>C (p.Trp594Cys) c.1257G>C (p.Trp419Cys) c.1500G>C (p.Trp500Cys) c.*32G>C (n.*32G>C) c.1743G>C (p.Trp581Cys) c.1791G>C (p.Trp597Cys) c.1788G>C (p.Trp596Cys) c.1755G>C (p.Trp585Cys) | dbSNP |
3 | g.189894253G= | CA1428535209 | TP63 | c.1794G= (p.Trp598=) c.1512G= (p.Trp504=) c.*22G= (n.*22G=) c.1782G= (p.Trp594=) c.1257G= (p.Trp419=) c.1500G= (p.Trp500=) c.*32G= (n.*32G=) c.1743G= (p.Trp581=) c.1791G= (p.Trp597=) c.1788G= (p.Trp596=) c.1755G= (p.Trp585=) | |
3 | g.189894253G>T | CA355751218 | TP63 | c.1794G>T (p.Trp598Cys) c.1512G>T (p.Trp504Cys) c.*22G>T (n.*22G>T) c.1782G>T (p.Trp594Cys) c.1257G>T (p.Trp419Cys) c.1500G>T (p.Trp500Cys) c.*32G>T (n.*32G>T) c.1743G>T (p.Trp581Cys) c.1791G>T (p.Trp597Cys) c.1788G>T (p.Trp596Cys) c.1755G>T (p.Trp585Cys) | |
3 | g.189894254A>C | CA355751220 | TP63 | c.1795A>C (p.Lys599Gln) c.1513A>C (p.Lys505Gln) c.*23A>C (n.*23A>C) c.1783A>C (p.Lys595Gln) c.1258A>C (p.Lys420Gln) c.1501A>C (p.Lys501Gln) c.*33A>C (n.*33A>C) c.1744A>C (p.Lys582Gln) c.1792A>C (p.Lys598Gln) c.1789A>C (p.Lys597Gln) c.1756A>C (p.Lys586Gln) | |
3 | g.189894254A>G | CA355751221 | TP63 | c.1795A>G (p.Lys599Glu) c.1513A>G (p.Lys505Glu) c.*23A>G (n.*23A>G) c.1783A>G (p.Lys595Glu) c.1258A>G (p.Lys420Glu) c.1501A>G (p.Lys501Glu) c.*33A>G (n.*33A>G) c.1744A>G (p.Lys582Glu) c.1792A>G (p.Lys598Glu) c.1789A>G (p.Lys597Glu) c.1756A>G (p.Lys586Glu) | |
3 | g.189894254A>T | CA355751222 | TP63 | c.1795A>T (p.Lys599Ter) c.1513A>T (p.Lys505Ter) c.*23A>T (n.*23A>T) c.1783A>T (p.Lys595Ter) c.1258A>T (p.Lys420Ter) c.1501A>T (p.Lys501Ter) c.*33A>T (n.*33A>T) c.1744A>T (p.Lys582Ter) c.1792A>T (p.Lys598Ter) c.1789A>T (p.Lys597Ter) c.1756A>T (p.Lys586Ter) | dbSNP |
3 | g.189894255A>C | CA355751223 | TP63 | c.1796A>C (p.Lys599Thr) c.1514A>C (p.Lys505Thr) c.*24A>C (n.*24A>C) c.1784A>C (p.Lys595Thr) c.1259A>C (p.Lys420Thr) c.1502A>C (p.Lys501Thr) c.*34A>C (n.*34A>C) c.1745A>C (p.Lys582Thr) c.1793A>C (p.Lys598Thr) c.1790A>C (p.Lys597Thr) c.1757A>C (p.Lys586Thr) | |
3 | g.189894255A>G | CA355751224 | TP63 | c.1796A>G (p.Lys599Arg) c.1514A>G (p.Lys505Arg) c.*24A>G (n.*24A>G) c.1784A>G (p.Lys595Arg) c.1259A>G (p.Lys420Arg) c.1502A>G (p.Lys501Arg) c.*34A>G (n.*34A>G) c.1745A>G (p.Lys582Arg) c.1793A>G (p.Lys598Arg) c.1790A>G (p.Lys597Arg) c.1757A>G (p.Lys586Arg) | dbSNP |
3 | g.189894255A>T | CA355751225 | TP63 | c.1796A>T (p.Lys599Met) c.1514A>T (p.Lys505Met) c.*24A>T (n.*24A>T) c.1784A>T (p.Lys595Met) c.1259A>T (p.Lys420Met) c.1502A>T (p.Lys501Met) c.*34A>T (n.*34A>T) c.1745A>T (p.Lys582Met) c.1793A>T (p.Lys598Met) c.1790A>T (p.Lys597Met) c.1757A>T (p.Lys586Met) | dbSNP |
3 | g.189894256G>A | CA2752579 | TP63 | c.1797G>A (p.Lys599=) c.1515G>A (p.Lys505=) c.*25G>A (n.*25G>A) c.1785G>A (p.Lys595=) c.1260G>A (p.Lys420=) c.1503G>A (p.Lys501=) c.*35G>A (n.*35G>A) c.1746G>A (p.Lys582=) c.1794G>A (p.Lys598=) c.1791G>A (p.Lys597=) c.1758G>A (p.Lys586=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894256G>C | CA355751227 | TP63 | c.1797G>C (p.Lys599Asn) c.1515G>C (p.Lys505Asn) c.*25G>C (n.*25G>C) c.1785G>C (p.Lys595Asn) c.1260G>C (p.Lys420Asn) c.1503G>C (p.Lys501Asn) c.*35G>C (n.*35G>C) c.1746G>C (p.Lys582Asn) c.1794G>C (p.Lys598Asn) c.1791G>C (p.Lys597Asn) c.1758G>C (p.Lys586Asn) | dbSNP |
3 | g.189894256G= | CA1428535210 | TP63 | c.1797G= (p.Lys599=) c.1515G= (p.Lys505=) c.*25G= (n.*25G=) c.1785G= (p.Lys595=) c.1260G= (p.Lys420=) c.1503G= (p.Lys501=) c.*35G= (n.*35G=) c.1746G= (p.Lys582=) c.1794G= (p.Lys598=) c.1791G= (p.Lys597=) c.1758G= (p.Lys586=) | |
3 | g.189894256G>T | CA355751226 | TP63 | c.1797G>T (p.Lys599Asn) c.1515G>T (p.Lys505Asn) c.*25G>T (n.*25G>T) c.1785G>T (p.Lys595Asn) c.1260G>T (p.Lys420Asn) c.1503G>T (p.Lys501Asn) c.*35G>T (n.*35G>T) c.1746G>T (p.Lys582Asn) c.1794G>T (p.Lys598Asn) c.1791G>T (p.Lys597Asn) c.1758G>T (p.Lys586Asn) | dbSNP |
3 | g.189894257G>A | CA355751228 | TP63 | c.1798G>A (p.Gly600Ser) c.1516G>A (p.Gly506Ser) c.*26G>A (n.*26G>A) c.1786G>A (p.Gly596Ser) c.1261G>A (p.Gly421Ser) c.1504G>A (p.Gly502Ser) c.*36G>A (n.*36G>A) c.1747G>A (p.Gly583Ser) c.1795G>A (p.Gly599Ser) c.1792G>A (p.Gly598Ser) c.1759G>A (p.Gly587Ser) | dbSNP |
3 | g.189894257G>C | CA355751229 | TP63 | c.1798G>C (p.Gly600Arg) c.1516G>C (p.Gly506Arg) c.*26G>C (n.*26G>C) c.1786G>C (p.Gly596Arg) c.1261G>C (p.Gly421Arg) c.1504G>C (p.Gly502Arg) c.*36G>C (n.*36G>C) c.1747G>C (p.Gly583Arg) c.1795G>C (p.Gly599Arg) c.1792G>C (p.Gly598Arg) c.1759G>C (p.Gly587Arg) | dbSNP |
3 | g.189894257G>T | CA355751230 | TP63 | c.1798G>T (p.Gly600Cys) c.1516G>T (p.Gly506Cys) c.*26G>T (n.*26G>T) c.1786G>T (p.Gly596Cys) c.1261G>T (p.Gly421Cys) c.1504G>T (p.Gly502Cys) c.*36G>T (n.*36G>T) c.1747G>T (p.Gly583Cys) c.1795G>T (p.Gly599Cys) c.1792G>T (p.Gly598Cys) c.1759G>T (p.Gly587Cys) | dbSNP |
3 | g.189894258G>A | CA355751231 | TP63 | c.1799G>A (p.Gly600Asp) c.1517G>A (p.Gly506Asp) c.*27G>A (n.*27G>A) c.1787G>A (p.Gly596Asp) c.1262G>A (p.Gly421Asp) c.1505G>A (p.Gly502Asp) c.*37G>A (n.*37G>A) c.1748G>A (p.Gly583Asp) c.1796G>A (p.Gly599Asp) c.1793G>A (p.Gly598Asp) c.1760G>A (p.Gly587Asp) | ClinVar dbSNP |
3 | g.189894258G>C | CA355751232 | TP63 | c.1799G>C (p.Gly600Ala) c.1517G>C (p.Gly506Ala) c.*27G>C (n.*27G>C) c.1787G>C (p.Gly596Ala) c.1262G>C (p.Gly421Ala) c.1505G>C (p.Gly502Ala) c.*37G>C (n.*37G>C) c.1748G>C (p.Gly583Ala) c.1796G>C (p.Gly599Ala) c.1793G>C (p.Gly598Ala) c.1760G>C (p.Gly587Ala) | dbSNP |
3 | g.189894258G= | CA1428535211 | TP63 | c.1799G= (p.Gly600=) c.1517G= (p.Gly506=) c.*27G= (n.*27G=) c.1787G= (p.Gly596=) c.1262G= (p.Gly421=) c.1505G= (p.Gly502=) c.*37G= (n.*37G=) c.1748G= (p.Gly583=) c.1796G= (p.Gly599=) c.1793G= (p.Gly598=) c.1760G= (p.Gly587=) | |
3 | g.189894258G>T | CA355751233 | TP63 | c.1799G>T (p.Gly600Val) c.1517G>T (p.Gly506Val) c.*27G>T (n.*27G>T) c.1787G>T (p.Gly596Val) c.1262G>T (p.Gly421Val) c.1505G>T (p.Gly502Val) c.*37G>T (n.*37G>T) c.1748G>T (p.Gly583Val) c.1796G>T (p.Gly599Val) c.1793G>T (p.Gly598Val) c.1760G>T (p.Gly587Val) | |
3 | g.189894259C>A | CA437637012 | TP63 | c.1800C>A (p.Gly600=) c.1518C>A (p.Gly506=) c.*28C>A (n.*28C>A) c.1788C>A (p.Gly596=) c.1263C>A (p.Gly421=) c.1506C>A (p.Gly502=) c.*38C>A (n.*38C>A) c.1749C>A (p.Gly583=) c.1797C>A (p.Gly599=) c.1794C>A (p.Gly598=) c.1761C>A (p.Gly587=) | dbSNP |
3 | g.189894259C>G | CA437637014 | TP63 | c.1800C>G (p.Gly600=) c.1518C>G (p.Gly506=) c.*28C>G (n.*28C>G) c.1788C>G (p.Gly596=) c.1263C>G (p.Gly421=) c.1506C>G (p.Gly502=) c.*38C>G (n.*38C>G) c.1749C>G (p.Gly583=) c.1797C>G (p.Gly599=) c.1794C>G (p.Gly598=) c.1761C>G (p.Gly587=) | dbSNP |
3 | g.189894259C>T | CA437637013 | TP63 | c.1800C>T (p.Gly600=) c.1518C>T (p.Gly506=) c.*28C>T (n.*28C>T) c.1788C>T (p.Gly596=) c.1263C>T (p.Gly421=) c.1506C>T (p.Gly502=) c.*38C>T (n.*38C>T) c.1749C>T (p.Gly583=) c.1797C>T (p.Gly599=) c.1794C>T (p.Gly598=) c.1761C>T (p.Gly587=) | dbSNP gnomAD v4 |
3 | g.189894260A>C | CA355751234 | TP63 | c.1801A>C (p.Ile601Leu) c.1519A>C (p.Ile507Leu) c.*29A>C (n.*29A>C) c.1789A>C (p.Ile597Leu) c.1264A>C (p.Ile422Leu) c.1507A>C (p.Ile503Leu) c.*39A>C (n.*39A>C) c.1750A>C (p.Ile584Leu) c.1798A>C (p.Ile600Leu) c.1795A>C (p.Ile599Leu) c.1762A>C (p.Ile588Leu) | |
3 | g.189894260A>G | CA355751236 | TP63 | c.1801A>G (p.Ile601Val) c.1519A>G (p.Ile507Val) c.*29A>G (n.*29A>G) c.1789A>G (p.Ile597Val) c.1264A>G (p.Ile422Val) c.1507A>G (p.Ile503Val) c.*39A>G (n.*39A>G) c.1750A>G (p.Ile584Val) c.1798A>G (p.Ile600Val) c.1795A>G (p.Ile599Val) c.1762A>G (p.Ile588Val) | |
3 | g.189894260A>T | CA355751235 | TP63 | c.1801A>T (p.Ile601Phe) c.1519A>T (p.Ile507Phe) c.*29A>T (n.*29A>T) c.1789A>T (p.Ile597Phe) c.1264A>T (p.Ile422Phe) c.1507A>T (p.Ile503Phe) c.*39A>T (n.*39A>T) c.1750A>T (p.Ile584Phe) c.1798A>T (p.Ile600Phe) c.1795A>T (p.Ile599Phe) c.1762A>T (p.Ile588Phe) | dbSNP |
3 | g.189894261T>A | CA355751237 | TP63 | c.1802T>A (p.Ile601Asn) c.1520T>A (p.Ile507Asn) c.*30T>A (n.*30T>A) c.1790T>A (p.Ile597Asn) c.1265T>A (p.Ile422Asn) c.1508T>A (p.Ile503Asn) c.*40T>A (n.*40T>A) c.1751T>A (p.Ile584Asn) c.1799T>A (p.Ile600Asn) c.1796T>A (p.Ile599Asn) c.1763T>A (p.Ile588Asn) | dbSNP |
3 | g.189894261T>C | CA355751238 | TP63 | c.1802T>C (p.Ile601Thr) c.1520T>C (p.Ile507Thr) c.*30T>C (n.*30T>C) c.1790T>C (p.Ile597Thr) c.1265T>C (p.Ile422Thr) c.1508T>C (p.Ile503Thr) c.*40T>C (n.*40T>C) c.1751T>C (p.Ile584Thr) c.1799T>C (p.Ile600Thr) c.1796T>C (p.Ile599Thr) c.1763T>C (p.Ile588Thr) | ClinVar dbSNP |
3 | g.189894261T>G | CA355751239 | TP63 | c.1802T>G (p.Ile601Ser) c.1520T>G (p.Ile507Ser) c.*30T>G (n.*30T>G) c.1790T>G (p.Ile597Ser) c.1265T>G (p.Ile422Ser) c.1508T>G (p.Ile503Ser) c.*40T>G (n.*40T>G) c.1751T>G (p.Ile584Ser) c.1799T>G (p.Ile600Ser) c.1796T>G (p.Ile599Ser) c.1763T>G (p.Ile588Ser) | |
3 | g.189894262C>A | CA437637020 | TP63 | c.1803C>A (p.Ile601=) c.1521C>A (p.Ile507=) c.*31C>A (n.*31C>A) c.1791C>A (p.Ile597=) c.1266C>A (p.Ile422=) c.1509C>A (p.Ile503=) c.*41C>A (n.*41C>A) c.1752C>A (p.Ile584=) c.1800C>A (p.Ile600=) c.1797C>A (p.Ile599=) c.1764C>A (p.Ile588=) | dbSNP |
3 | g.189894262C= | CA1428535212 | TP63 | c.1803C= (p.Ile601=) c.1521C= (p.Ile507=) c.*31C= (n.*31C=) c.1791C= (p.Ile597=) c.1266C= (p.Ile422=) c.1509C= (p.Ile503=) c.*41C= (n.*41C=) c.1752C= (p.Ile584=) c.1800C= (p.Ile600=) c.1797C= (p.Ile599=) c.1764C= (p.Ile588=) | |
3 | g.189894262C>G | CA355751240 | TP63 | c.1803C>G (p.Ile601Met) c.1521C>G (p.Ile507Met) c.*31C>G (n.*31C>G) c.1791C>G (p.Ile597Met) c.1266C>G (p.Ile422Met) c.1509C>G (p.Ile503Met) c.*41C>G (n.*41C>G) c.1752C>G (p.Ile584Met) c.1800C>G (p.Ile600Met) c.1797C>G (p.Ile599Met) c.1764C>G (p.Ile588Met) | dbSNP |
3 | g.189894262C>T | CA2752580 | TP63 | c.1803C>T (p.Ile601=) c.1521C>T (p.Ile507=) c.*31C>T (n.*31C>T) c.1791C>T (p.Ile597=) c.1266C>T (p.Ile422=) c.1509C>T (p.Ile503=) c.*41C>T (n.*41C>T) c.1752C>T (p.Ile584=) c.1800C>T (p.Ile600=) c.1797C>T (p.Ile599=) c.1764C>T (p.Ile588=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894263C>A | CA355751241 | TP63 | c.1804C>A (p.Leu602Met) c.1522C>A (p.Leu508Met) c.*32C>A (n.*32C>A) c.1792C>A (p.Leu598Met) c.1267C>A (p.Leu423Met) c.1510C>A (p.Leu504Met) c.*42C>A (n.*42C>A) c.1753C>A (p.Leu585Met) c.1801C>A (p.Leu601Met) c.1798C>A (p.Leu600Met) c.1765C>A (p.Leu589Met) | |
3 | g.189894263C>G | CA355751242 | TP63 | c.1804C>G (p.Leu602Val) c.1522C>G (p.Leu508Val) c.*32C>G (n.*32C>G) c.1792C>G (p.Leu598Val) c.1267C>G (p.Leu423Val) c.1510C>G (p.Leu504Val) c.*42C>G (n.*42C>G) c.1753C>G (p.Leu585Val) c.1801C>G (p.Leu601Val) c.1798C>G (p.Leu600Val) c.1765C>G (p.Leu589Val) | |
3 | g.189894263C>T | CA437637021 | TP63 | c.1804C>T (p.Leu602=) c.1522C>T (p.Leu508=) c.*32C>T (n.*32C>T) c.1792C>T (p.Leu598=) c.1267C>T (p.Leu423=) c.1510C>T (p.Leu504=) c.*42C>T (n.*42C>T) c.1753C>T (p.Leu585=) c.1801C>T (p.Leu601=) c.1798C>T (p.Leu600=) c.1765C>T (p.Leu589=) | dbSNP |
3 | g.189894264T>A | CA2752581 | TP63 | c.1805T>A (p.Leu602Gln) c.1523T>A (p.Leu508Gln) c.*33T>A (n.*33T>A) c.1793T>A (p.Leu598Gln) c.1268T>A (p.Leu423Gln) c.1511T>A (p.Leu504Gln) c.*43T>A (n.*43T>A) c.1754T>A (p.Leu585Gln) c.1802T>A (p.Leu601Gln) c.1799T>A (p.Leu600Gln) c.1766T>A (p.Leu589Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894264T>C | CA16604847 | TP63 | c.1805T>C (p.Leu602Pro) c.1523T>C (p.Leu508Pro) c.*33T>C (n.*33T>C) c.1793T>C (p.Leu598Pro) c.1268T>C (p.Leu423Pro) c.1511T>C (p.Leu504Pro) c.*43T>C (n.*43T>C) c.1754T>C (p.Leu585Pro) c.1802T>C (p.Leu601Pro) c.1799T>C (p.Leu600Pro) c.1766T>C (p.Leu589Pro) | ClinVar dbSNP |
3 | g.189894264T>G | CA355751243 | TP63 | c.1805T>G (p.Leu602Arg) c.1523T>G (p.Leu508Arg) c.*33T>G (n.*33T>G) c.1793T>G (p.Leu598Arg) c.1268T>G (p.Leu423Arg) c.1511T>G (p.Leu504Arg) c.*43T>G (n.*43T>G) c.1754T>G (p.Leu585Arg) c.1802T>G (p.Leu601Arg) c.1799T>G (p.Leu600Arg) c.1766T>G (p.Leu589Arg) | |
3 | g.189894264T= | CA1428535213 | TP63 | c.1805T= (p.Leu602=) c.1523T= (p.Leu508=) c.*33T= (n.*33T=) c.1793T= (p.Leu598=) c.1268T= (p.Leu423=) c.1511T= (p.Leu504=) c.*43T= (n.*43T=) c.1754T= (p.Leu585=) c.1802T= (p.Leu601=) c.1799T= (p.Leu600=) c.1766T= (p.Leu589=) | |
3 | g.189894265G>A | CA89713262 | TP63 | c.1806G>A (p.Leu602=) c.1524G>A (p.Leu508=) c.*34G>A (n.*34G>A) c.1794G>A (p.Leu598=) c.1269G>A (p.Leu423=) c.1512G>A (p.Leu504=) c.*44G>A (n.*44G>A) c.1755G>A (p.Leu585=) c.1803G>A (p.Leu601=) c.1800G>A (p.Leu600=) c.1767G>A (p.Leu589=) | dbSNP gnomAD v4 |
3 | g.189894265G>C | CA437637022 | TP63 | c.1806G>C (p.Leu602=) c.1524G>C (p.Leu508=) c.*34G>C (n.*34G>C) c.1794G>C (p.Leu598=) c.1269G>C (p.Leu423=) c.1512G>C (p.Leu504=) c.*44G>C (n.*44G>C) c.1755G>C (p.Leu585=) c.1803G>C (p.Leu601=) c.1800G>C (p.Leu600=) c.1767G>C (p.Leu589=) | dbSNP |
3 | g.189894265G= | CA1428535214 | TP63 | c.1806G= (p.Leu602=) c.1524G= (p.Leu508=) c.*34G= (n.*34G=) c.1794G= (p.Leu598=) c.1269G= (p.Leu423=) c.1512G= (p.Leu504=) c.*44G= (n.*44G=) c.1755G= (p.Leu585=) c.1803G= (p.Leu601=) c.1800G= (p.Leu600=) c.1767G= (p.Leu589=) | |
3 | g.189894265G>T | CA437637023 | TP63 | c.1806G>T (p.Leu602=) c.1524G>T (p.Leu508=) c.*34G>T (n.*34G>T) c.1794G>T (p.Leu598=) c.1269G>T (p.Leu423=) c.1512G>T (p.Leu504=) c.*44G>T (n.*44G>T) c.1755G>T (p.Leu585=) c.1803G>T (p.Leu601=) c.1800G>T (p.Leu600=) c.1767G>T (p.Leu589=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.189894266G>A | CA355751244 | TP63 | c.1807G>A (p.Asp603Asn) c.1525G>A (p.Asp509Asn) c.*35G>A (n.*35G>A) c.1795G>A (p.Asp599Asn) c.1270G>A (p.Asp424Asn) c.1513G>A (p.Asp505Asn) c.*45G>A (n.*45G>A) c.1756G>A (p.Asp586Asn) c.1804G>A (p.Asp602Asn) c.1801G>A (p.Asp601Asn) c.1768G>A (p.Asp590Asn) | dbSNP gnomAD v4 |
3 | g.189894266G>C | CA2752582 | TP63 | c.1807G>C (p.Asp603His) c.1525G>C (p.Asp509His) c.*35G>C (n.*35G>C) c.1795G>C (p.Asp599His) c.1270G>C (p.Asp424His) c.1513G>C (p.Asp505His) c.*45G>C (n.*45G>C) c.1756G>C (p.Asp586His) c.1804G>C (p.Asp602His) c.1801G>C (p.Asp601His) c.1768G>C (p.Asp590His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894266G= | CA1428535215 | TP63 | c.1807G= (p.Asp603=) c.1525G= (p.Asp509=) c.*35G= (n.*35G=) c.1795G= (p.Asp599=) c.1270G= (p.Asp424=) c.1513G= (p.Asp505=) c.*45G= (n.*45G=) c.1756G= (p.Asp586=) c.1804G= (p.Asp602=) c.1801G= (p.Asp601=) c.1768G= (p.Asp590=) | |
3 | g.189894266G>T | CA355751245 | TP63 | c.1807G>T (p.Asp603Tyr) c.1525G>T (p.Asp509Tyr) c.*35G>T (n.*35G>T) c.1795G>T (p.Asp599Tyr) c.1270G>T (p.Asp424Tyr) c.1513G>T (p.Asp505Tyr) c.*45G>T (n.*45G>T) c.1756G>T (p.Asp586Tyr) c.1804G>T (p.Asp602Tyr) c.1801G>T (p.Asp601Tyr) c.1768G>T (p.Asp590Tyr) | dbSNP |
3 | g.189894267A= | CA1428535217 | TP63 | c.1808A= (p.Asp603=) c.1526A= (p.Asp509=) c.*36A= (n.*36A=) c.1796A= (p.Asp599=) c.1271A= (p.Asp424=) c.1514A= (p.Asp505=) c.*46A= (n.*46A=) c.1757A= (p.Asp586=) c.1805A= (p.Asp602=) c.1802A= (p.Asp601=) c.1769A= (p.Asp590=) | |
3 | g.189894267A>C | CA355751246 | TP63 | c.1808A>C (p.Asp603Ala) c.1526A>C (p.Asp509Ala) c.*36A>C (n.*36A>C) c.1796A>C (p.Asp599Ala) c.1271A>C (p.Asp424Ala) c.1514A>C (p.Asp505Ala) c.*46A>C (n.*46A>C) c.1757A>C (p.Asp586Ala) c.1805A>C (p.Asp602Ala) c.1802A>C (p.Asp601Ala) c.1769A>C (p.Asp590Ala) | dbSNP |
3 | g.189894267A>G | CA355751247 | TP63 | c.1808A>G (p.Asp603Gly) c.1526A>G (p.Asp509Gly) c.*36A>G (n.*36A>G) c.1796A>G (p.Asp599Gly) c.1271A>G (p.Asp424Gly) c.1514A>G (p.Asp505Gly) c.*46A>G (n.*46A>G) c.1757A>G (p.Asp586Gly) c.1805A>G (p.Asp602Gly) c.1802A>G (p.Asp601Gly) c.1769A>G (p.Asp590Gly) | dbSNP gnomAD v4 |
3 | g.189894267A>T | CA355751248 | TP63 | c.1808A>T (p.Asp603Val) c.1526A>T (p.Asp509Val) c.*36A>T (n.*36A>T) c.1796A>T (p.Asp599Val) c.1271A>T (p.Asp424Val) c.1514A>T (p.Asp505Val) c.*46A>T (n.*46A>T) c.1757A>T (p.Asp586Val) c.1805A>T (p.Asp602Val) c.1802A>T (p.Asp601Val) c.1769A>T (p.Asp590Val) | |
3 | g.189894270_189894272dup | CA1428535216 | TP63 | c.1811_1813dup (p.His604_Arg605insHis) c.1529_1531dup (p.His510_Arg511insHis) c.*39_*41dup (n.*39_*41dup) c.1799_1801dup (p.His600_Arg601insHis) c.1274_1276dup (p.His425_Arg426insHis) c.1517_1519dup (p.His506_Arg507insHis) c.*49_*51dup (n.*49_*51dup) c.1760_1762dup (p.His587_Arg588insHis) c.1808_1810dup (p.His603_Arg604insHis) c.1805_1807dup (p.His602_Arg603insHis) c.1772_1774dup (p.His591_Arg592insHis) | dbSNP |
3 | g.189894268C>A | CA355751249 | TP63 | c.1809C>A (p.Asp603Glu) c.1527C>A (p.Asp509Glu) c.*37C>A (n.*37C>A) c.1797C>A (p.Asp599Glu) c.1272C>A (p.Asp424Glu) c.1515C>A (p.Asp505Glu) c.*47C>A (n.*47C>A) c.1758C>A (p.Asp586Glu) c.1806C>A (p.Asp602Glu) c.1803C>A (p.Asp601Glu) c.1770C>A (p.Asp590Glu) | |
3 | g.189894268C>G | CA355751250 | TP63 | c.1809C>G (p.Asp603Glu) c.1527C>G (p.Asp509Glu) c.*37C>G (n.*37C>G) c.1797C>G (p.Asp599Glu) c.1272C>G (p.Asp424Glu) c.1515C>G (p.Asp505Glu) c.*47C>G (n.*47C>G) c.1758C>G (p.Asp586Glu) c.1806C>G (p.Asp602Glu) c.1803C>G (p.Asp601Glu) c.1770C>G (p.Asp590Glu) | |
3 | g.189894268C>T | CA437637024 | TP63 | c.1809C>T (p.Asp603=) c.1527C>T (p.Asp509=) c.*37C>T (n.*37C>T) c.1797C>T (p.Asp599=) c.1272C>T (p.Asp424=) c.1515C>T (p.Asp505=) c.*47C>T (n.*47C>T) c.1758C>T (p.Asp586=) c.1806C>T (p.Asp602=) c.1803C>T (p.Asp601=) c.1770C>T (p.Asp590=) | |
3 | g.189894269del | CA2739289648 | TP63 | c.1810del (p.His604ThrfsTer?) c.1528del (p.His510ThrfsTer?) c.*38del (n.*38del) c.1798del (p.His600ThrfsTer?) c.1273del (p.His425ThrfsTer?) c.1516del (p.His506ThrfsTer?) c.*48del (n.*48del) c.1759del (p.His587ThrfsTer?) c.1807del (p.His603ThrfsTer?) c.1804del (p.His602ThrfsTer?) c.1771del (p.His591ThrfsTer?) | |
3 | g.189894269C>A | CA355751251 | TP63 | c.1810C>A (p.His604Asn) c.1528C>A (p.His510Asn) c.*38C>A (n.*38C>A) c.1798C>A (p.His600Asn) c.1273C>A (p.His425Asn) c.1516C>A (p.His506Asn) c.*48C>A (n.*48C>A) c.1759C>A (p.His587Asn) c.1807C>A (p.His603Asn) c.1804C>A (p.His602Asn) c.1771C>A (p.His591Asn) | dbSNP |
3 | g.189894269C>G | CA355751252 | TP63 | c.1810C>G (p.His604Asp) c.1528C>G (p.His510Asp) c.*38C>G (n.*38C>G) c.1798C>G (p.His600Asp) c.1273C>G (p.His425Asp) c.1516C>G (p.His506Asp) c.*48C>G (n.*48C>G) c.1759C>G (p.His587Asp) c.1807C>G (p.His603Asp) c.1804C>G (p.His602Asp) c.1771C>G (p.His591Asp) | dbSNP |
3 | g.189894269C>T | CA355751253 | TP63 | c.1810C>T (p.His604Tyr) c.1528C>T (p.His510Tyr) c.*38C>T (n.*38C>T) c.1798C>T (p.His600Tyr) c.1273C>T (p.His425Tyr) c.1516C>T (p.His506Tyr) c.*48C>T (n.*48C>T) c.1759C>T (p.His587Tyr) c.1807C>T (p.His603Tyr) c.1804C>T (p.His602Tyr) c.1771C>T (p.His591Tyr) | dbSNP |
3 | g.189894270A>C | CA355751254 | TP63 | c.1811A>C (p.His604Pro) c.1529A>C (p.His510Pro) c.*39A>C (n.*39A>C) c.1799A>C (p.His600Pro) c.1274A>C (p.His425Pro) c.1517A>C (p.His506Pro) c.*49A>C (n.*49A>C) c.1760A>C (p.His587Pro) c.1808A>C (p.His603Pro) c.1805A>C (p.His602Pro) c.1772A>C (p.His591Pro) | dbSNP |
3 | g.189894270A>G | CA355751255 | TP63 | c.1811A>G (p.His604Arg) c.1529A>G (p.His510Arg) c.*39A>G (n.*39A>G) c.1799A>G (p.His600Arg) c.1274A>G (p.His425Arg) c.1517A>G (p.His506Arg) c.*49A>G (n.*49A>G) c.1760A>G (p.His587Arg) c.1808A>G (p.His603Arg) c.1805A>G (p.His602Arg) c.1772A>G (p.His591Arg) | |
3 | g.189894270A>T | CA355751256 | TP63 | c.1811A>T (p.His604Leu) c.1529A>T (p.His510Leu) c.*39A>T (n.*39A>T) c.1799A>T (p.His600Leu) c.1274A>T (p.His425Leu) c.1517A>T (p.His506Leu) c.*49A>T (n.*49A>T) c.1760A>T (p.His587Leu) c.1808A>T (p.His603Leu) c.1805A>T (p.His602Leu) c.1772A>T (p.His591Leu) | dbSNP |
3 | g.189894271C>A | CA355751257 | TP63 | c.1812C>A (p.His604Gln) c.1530C>A (p.His510Gln) c.*40C>A (n.*40C>A) c.1800C>A (p.His600Gln) c.1275C>A (p.His425Gln) c.1518C>A (p.His506Gln) c.*50C>A (n.*50C>A) c.1761C>A (p.His587Gln) c.1809C>A (p.His603Gln) c.1806C>A (p.His602Gln) c.1773C>A (p.His591Gln) | |
3 | g.189894271C>G | CA355751258 | TP63 | c.1812C>G (p.His604Gln) c.1530C>G (p.His510Gln) c.*40C>G (n.*40C>G) c.1800C>G (p.His600Gln) c.1275C>G (p.His425Gln) c.1518C>G (p.His506Gln) c.*50C>G (n.*50C>G) c.1761C>G (p.His587Gln) c.1809C>G (p.His603Gln) c.1806C>G (p.His602Gln) c.1773C>G (p.His591Gln) | dbSNP |
3 | g.189894271C>T | CA437637025 | TP63 | c.1812C>T (p.His604=) c.1530C>T (p.His510=) c.*40C>T (n.*40C>T) c.1800C>T (p.His600=) c.1275C>T (p.His425=) c.1518C>T (p.His506=) c.*50C>T (n.*50C>T) c.1761C>T (p.His587=) c.1809C>T (p.His603=) c.1806C>T (p.His602=) c.1773C>T (p.His591=) | dbSNP gnomAD v4 |
3 | g.189894272C>A | CA437637026 | TP63 | c.1813C>A (p.Arg605=) c.1531C>A (p.Arg511=) c.*41C>A (n.*41C>A) c.1801C>A (p.Arg601=) c.1276C>A (p.Arg426=) c.1519C>A (p.Arg507=) c.*51C>A (n.*51C>A) c.1762C>A (p.Arg588=) c.1810C>A (p.Arg604=) c.1807C>A (p.Arg603=) c.1774C>A (p.Arg592=) | dbSNP gnomAD v4 |
3 | g.189894272C= | CA1428535218 | TP63 | c.1813C= (p.Arg605=) c.1531C= (p.Arg511=) c.*41C= (n.*41C=) c.1801C= (p.Arg601=) c.1276C= (p.Arg426=) c.1519C= (p.Arg507=) c.*51C= (n.*51C=) c.1762C= (p.Arg588=) c.1810C= (p.Arg604=) c.1807C= (p.Arg603=) c.1774C= (p.Arg592=) | |
3 | g.189894272C>G | CA355751259 | TP63 | c.1813C>G (p.Arg605Gly) c.1531C>G (p.Arg511Gly) c.*41C>G (n.*41C>G) c.1801C>G (p.Arg601Gly) c.1276C>G (p.Arg426Gly) c.1519C>G (p.Arg507Gly) c.*51C>G (n.*51C>G) c.1762C>G (p.Arg588Gly) c.1810C>G (p.Arg604Gly) c.1807C>G (p.Arg603Gly) c.1774C>G (p.Arg592Gly) | dbSNP |
3 | g.189894272C>T | CA89713267 | TP63 | c.1813C>T (p.Arg605Trp) c.1531C>T (p.Arg511Trp) c.*41C>T (n.*41C>T) c.1801C>T (p.Arg601Trp) c.1276C>T (p.Arg426Trp) c.1519C>T (p.Arg507Trp) c.*51C>T (n.*51C>T) c.1762C>T (p.Arg588Trp) c.1810C>T (p.Arg604Trp) c.1807C>T (p.Arg603Trp) c.1774C>T (p.Arg592Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.189894273G>A | CA2752583 | TP63 | c.1814G>A (p.Arg605Gln) c.1532G>A (p.Arg511Gln) c.*42G>A (n.*42G>A) c.1802G>A (p.Arg601Gln) c.1277G>A (p.Arg426Gln) c.1520G>A (p.Arg507Gln) c.*52G>A (n.*52G>A) c.1763G>A (p.Arg588Gln) c.1811G>A (p.Arg604Gln) c.1808G>A (p.Arg603Gln) c.1775G>A (p.Arg592Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894273G>C | CA355751260 | TP63 | c.1814G>C (p.Arg605Pro) c.1532G>C (p.Arg511Pro) c.*42G>C (n.*42G>C) c.1802G>C (p.Arg601Pro) c.1277G>C (p.Arg426Pro) c.1520G>C (p.Arg507Pro) c.*52G>C (n.*52G>C) c.1763G>C (p.Arg588Pro) c.1811G>C (p.Arg604Pro) c.1808G>C (p.Arg603Pro) c.1775G>C (p.Arg592Pro) | dbSNP |
3 | g.189894273G= | CA1428535219 | TP63 | c.1814G= (p.Arg605=) c.1532G= (p.Arg511=) c.*42G= (n.*42G=) c.1802G= (p.Arg601=) c.1277G= (p.Arg426=) c.1520G= (p.Arg507=) c.*52G= (n.*52G=) c.1763G= (p.Arg588=) c.1811G= (p.Arg604=) c.1808G= (p.Arg603=) c.1775G= (p.Arg592=) | |
3 | g.189894273G>T | CA355751261 | TP63 | c.1814G>T (p.Arg605Leu) c.1532G>T (p.Arg511Leu) c.*42G>T (n.*42G>T) c.1802G>T (p.Arg601Leu) c.1277G>T (p.Arg426Leu) c.1520G>T (p.Arg507Leu) c.*52G>T (n.*52G>T) c.1763G>T (p.Arg588Leu) c.1811G>T (p.Arg604Leu) c.1808G>T (p.Arg603Leu) c.1775G>T (p.Arg592Leu) | dbSNP |
3 | g.189894274del | CA2586973404 | TP63 | c.1815del (p.Gln606SerfsTer?) c.1533del (p.Gln512SerfsTer?) c.*43del (n.*43del) c.1803del (p.Gln602SerfsTer?) c.1278del (p.Gln427SerfsTer?) c.1521del (p.Gln508SerfsTer?) c.*53del (n.*53del) c.1764del (p.Gln589SerfsTer?) c.1812del (p.Gln605SerfsTer?) c.1809del (p.Gln604SerfsTer?) c.1776del (p.Gln593SerfsTer?) | |
3 | g.189894274G>A | CA437637027 | TP63 | c.1815G>A (p.Arg605=) c.1533G>A (p.Arg511=) c.*43G>A (n.*43G>A) c.1803G>A (p.Arg601=) c.1278G>A (p.Arg426=) c.1521G>A (p.Arg507=) c.*53G>A (n.*53G>A) c.1764G>A (p.Arg588=) c.1812G>A (p.Arg604=) c.1809G>A (p.Arg603=) c.1776G>A (p.Arg592=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.189894274G>C | CA437637029 | TP63 | c.1815G>C (p.Arg605=) c.1533G>C (p.Arg511=) c.*43G>C (n.*43G>C) c.1803G>C (p.Arg601=) c.1278G>C (p.Arg426=) c.1521G>C (p.Arg507=) c.*53G>C (n.*53G>C) c.1764G>C (p.Arg588=) c.1812G>C (p.Arg604=) c.1809G>C (p.Arg603=) c.1776G>C (p.Arg592=) | dbSNP |
3 | g.189894274G= | CA1428535220 | TP63 | c.1815G= (p.Arg605=) c.1533G= (p.Arg511=) c.*43G= (n.*43G=) c.1803G= (p.Arg601=) c.1278G= (p.Arg426=) c.1521G= (p.Arg507=) c.*53G= (n.*53G=) c.1764G= (p.Arg588=) c.1812G= (p.Arg604=) c.1809G= (p.Arg603=) c.1776G= (p.Arg592=) | |
3 | g.189894274G>T | CA437637028 | TP63 | c.1815G>T (p.Arg605=) c.1533G>T (p.Arg511=) c.*43G>T (n.*43G>T) c.1803G>T (p.Arg601=) c.1278G>T (p.Arg426=) c.1521G>T (p.Arg507=) c.*53G>T (n.*53G>T) c.1764G>T (p.Arg588=) c.1812G>T (p.Arg604=) c.1809G>T (p.Arg603=) c.1776G>T (p.Arg592=) | |
3 | g.189894275C>A | CA355751262 | TP63 | c.1816C>A (p.Gln606Lys) c.1534C>A (p.Gln512Lys) c.*44C>A (n.*44C>A) c.1804C>A (p.Gln602Lys) c.1279C>A (p.Gln427Lys) c.1522C>A (p.Gln508Lys) c.*54C>A (n.*54C>A) c.1765C>A (p.Gln589Lys) c.1813C>A (p.Gln605Lys) c.1810C>A (p.Gln604Lys) c.1777C>A (p.Gln593Lys) | |
3 | g.189894275C>G | CA355751263 | TP63 | c.1816C>G (p.Gln606Glu) c.1534C>G (p.Gln512Glu) c.*44C>G (n.*44C>G) c.1804C>G (p.Gln602Glu) c.1279C>G (p.Gln427Glu) c.1522C>G (p.Gln508Glu) c.*54C>G (n.*54C>G) c.1765C>G (p.Gln589Glu) c.1813C>G (p.Gln605Glu) c.1810C>G (p.Gln604Glu) c.1777C>G (p.Gln593Glu) | dbSNP |
3 | g.189894275C>T | CA355751264 | TP63 | c.1816C>T (p.Gln606Ter) c.1534C>T (p.Gln512Ter) c.*44C>T (n.*44C>T) c.1804C>T (p.Gln602Ter) c.1279C>T (p.Gln427Ter) c.1522C>T (p.Gln508Ter) c.*54C>T (n.*54C>T) c.1765C>T (p.Gln589Ter) c.1813C>T (p.Gln605Ter) c.1810C>T (p.Gln604Ter) c.1777C>T (p.Gln593Ter) | dbSNP gnomAD v4 |
3 | g.189894276A>C | CA355751265 | TP63 | c.1817A>C (p.Gln606Pro) c.1535A>C (p.Gln512Pro) c.*45A>C (n.*45A>C) c.1805A>C (p.Gln602Pro) c.1280A>C (p.Gln427Pro) c.1523A>C (p.Gln508Pro) c.*55A>C (n.*55A>C) c.1766A>C (p.Gln589Pro) c.1814A>C (p.Gln605Pro) c.1811A>C (p.Gln604Pro) c.1778A>C (p.Gln593Pro) | |
3 | g.189894276A>G | CA355751266 | TP63 | c.1817A>G (p.Gln606Arg) c.1535A>G (p.Gln512Arg) c.*45A>G (n.*45A>G) c.1805A>G (p.Gln602Arg) c.1280A>G (p.Gln427Arg) c.1523A>G (p.Gln508Arg) c.*55A>G (n.*55A>G) c.1766A>G (p.Gln589Arg) c.1814A>G (p.Gln605Arg) c.1811A>G (p.Gln604Arg) c.1778A>G (p.Gln593Arg) | dbSNP |
3 | g.189894276A>T | CA355751267 | TP63 | c.1817A>T (p.Gln606Leu) c.1535A>T (p.Gln512Leu) c.*45A>T (n.*45A>T) c.1805A>T (p.Gln602Leu) c.1280A>T (p.Gln427Leu) c.1523A>T (p.Gln508Leu) c.*55A>T (n.*55A>T) c.1766A>T (p.Gln589Leu) c.1814A>T (p.Gln605Leu) c.1811A>T (p.Gln604Leu) c.1778A>T (p.Gln593Leu) | dbSNP |
3 | g.189894277G>A | CA437637030 | TP63 | c.1818G>A (p.Gln606=) c.1536G>A (p.Gln512=) c.*46G>A (n.*46G>A) c.1806G>A (p.Gln602=) c.1281G>A (p.Gln427=) c.1524G>A (p.Gln508=) c.*56G>A (n.*56G>A) c.1767G>A (p.Gln589=) c.1815G>A (p.Gln605=) c.1812G>A (p.Gln604=) c.1779G>A (p.Gln593=) | dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.189894277G>C | CA355751268 | TP63 | c.1818G>C (p.Gln606His) c.1536G>C (p.Gln512His) c.*46G>C (n.*46G>C) c.1806G>C (p.Gln602His) c.1281G>C (p.Gln427His) c.1524G>C (p.Gln508His) c.*56G>C (n.*56G>C) c.1767G>C (p.Gln589His) c.1815G>C (p.Gln605His) c.1812G>C (p.Gln604His) c.1779G>C (p.Gln593His) | dbSNP gnomAD v4 |
3 | g.189894277G= | CA1428535221 | TP63 | c.1818G= (p.Gln606=) c.1536G= (p.Gln512=) c.*46G= (n.*46G=) c.1806G= (p.Gln602=) c.1281G= (p.Gln427=) c.1524G= (p.Gln508=) c.*56G= (n.*56G=) c.1767G= (p.Gln589=) c.1815G= (p.Gln605=) c.1812G= (p.Gln604=) c.1779G= (p.Gln593=) | |
3 | g.189894277G>T | CA89713273 | TP63 | c.1818G>T (p.Gln606His) c.1536G>T (p.Gln512His) c.*46G>T (n.*46G>T) c.1806G>T (p.Gln602His) c.1281G>T (p.Gln427His) c.1524G>T (p.Gln508His) c.*56G>T (n.*56G>T) c.1767G>T (p.Gln589His) c.1815G>T (p.Gln605His) c.1812G>T (p.Gln604His) c.1779G>T (p.Gln593His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.189894278C>A | CA355751271 | TP63 | c.1819C>A (p.Leu607Ile) c.1537C>A (p.Leu513Ile) c.*47C>A (n.*47C>A) c.1807C>A (p.Leu603Ile) c.1282C>A (p.Leu428Ile) c.1525C>A (p.Leu509Ile) c.*57C>A (n.*57C>A) c.1768C>A (p.Leu590Ile) c.1816C>A (p.Leu606Ile) c.1813C>A (p.Leu605Ile) c.1780C>A (p.Leu594Ile) | dbSNP |
3 | g.189894278C>G | CA355751270 | TP63 | c.1819C>G (p.Leu607Val) c.1537C>G (p.Leu513Val) c.*47C>G (n.*47C>G) c.1807C>G (p.Leu603Val) c.1282C>G (p.Leu428Val) c.1525C>G (p.Leu509Val) c.*57C>G (n.*57C>G) c.1768C>G (p.Leu590Val) c.1816C>G (p.Leu606Val) c.1813C>G (p.Leu605Val) c.1780C>G (p.Leu594Val) | dbSNP |
3 | g.189894278C>T | CA355751269 | TP63 | c.1819C>T (p.Leu607Phe) c.1537C>T (p.Leu513Phe) c.*47C>T (n.*47C>T) c.1807C>T (p.Leu603Phe) c.1282C>T (p.Leu428Phe) c.1525C>T (p.Leu509Phe) c.*57C>T (n.*57C>T) c.1768C>T (p.Leu590Phe) c.1816C>T (p.Leu606Phe) c.1813C>T (p.Leu605Phe) c.1780C>T (p.Leu594Phe) | dbSNP |
3 | g.189894279T>A | CA355751272 | TP63 | c.1820T>A (p.Leu607His) c.1538T>A (p.Leu513His) c.*48T>A (n.*48T>A) c.1808T>A (p.Leu603His) c.1283T>A (p.Leu428His) c.1526T>A (p.Leu509His) c.*58T>A (n.*58T>A) c.1769T>A (p.Leu590His) c.1817T>A (p.Leu606His) c.1814T>A (p.Leu605His) c.1781T>A (p.Leu594His) | |
3 | g.189894279T>C | CA355751274 | TP63 | c.1820T>C (p.Leu607Pro) c.1538T>C (p.Leu513Pro) c.*48T>C (n.*48T>C) c.1808T>C (p.Leu603Pro) c.1283T>C (p.Leu428Pro) c.1526T>C (p.Leu509Pro) c.*58T>C (n.*58T>C) c.1769T>C (p.Leu590Pro) c.1817T>C (p.Leu606Pro) c.1814T>C (p.Leu605Pro) c.1781T>C (p.Leu594Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.189894279T>G | CA355751273 | TP63 | c.1820T>G (p.Leu607Arg) c.1538T>G (p.Leu513Arg) c.*48T>G (n.*48T>G) c.1808T>G (p.Leu603Arg) c.1283T>G (p.Leu428Arg) c.1526T>G (p.Leu509Arg) c.*58T>G (n.*58T>G) c.1769T>G (p.Leu590Arg) c.1817T>G (p.Leu606Arg) c.1814T>G (p.Leu605Arg) c.1781T>G (p.Leu594Arg) | |
3 | g.189894279T= | CA1428535222 | TP63 | c.1820T= (p.Leu607=) c.1538T= (p.Leu513=) c.*48T= (n.*48T=) c.1808T= (p.Leu603=) c.1283T= (p.Leu428=) c.1526T= (p.Leu509=) c.*58T= (n.*58T=) c.1769T= (p.Leu590=) c.1817T= (p.Leu606=) c.1814T= (p.Leu605=) c.1781T= (p.Leu594=) | |
3 | g.189894280C>A | CA437637031 | TP63 | c.1821C>A (p.Leu607=) c.1539C>A (p.Leu513=) c.*49C>A (n.*49C>A) c.1809C>A (p.Leu603=) c.1284C>A (p.Leu428=) c.1527C>A (p.Leu509=) c.*59C>A (n.*59C>A) c.1770C>A (p.Leu590=) c.1818C>A (p.Leu606=) c.1815C>A (p.Leu605=) c.1782C>A (p.Leu594=) | |
3 | g.189894280C>G | CA437637033 | TP63 | c.1821C>G (p.Leu607=) c.1539C>G (p.Leu513=) c.*49C>G (n.*49C>G) c.1809C>G (p.Leu603=) c.1284C>G (p.Leu428=) c.1527C>G (p.Leu509=) c.*59C>G (n.*59C>G) c.1770C>G (p.Leu590=) c.1818C>G (p.Leu606=) c.1815C>G (p.Leu605=) c.1782C>G (p.Leu594=) | |
3 | g.189894280C>T | CA437637032 | TP63 | c.1821C>T (p.Leu607=) c.1539C>T (p.Leu513=) c.*49C>T (n.*49C>T) c.1809C>T (p.Leu603=) c.1284C>T (p.Leu428=) c.1527C>T (p.Leu509=) c.*59C>T (n.*59C>T) c.1770C>T (p.Leu590=) c.1818C>T (p.Leu606=) c.1815C>T (p.Leu605=) c.1782C>T (p.Leu594=) | |
3 | g.189894281C>A | CA355751275 | TP63 | c.1822C>A (p.His608Asn) c.1540C>A (p.His514Asn) c.*50C>A (n.*50C>A) c.1810C>A (p.His604Asn) c.1285C>A (p.His429Asn) c.1528C>A (p.His510Asn) c.*60C>A (n.*60C>A) c.1771C>A (p.His591Asn) c.1819C>A (p.His607Asn) c.1816C>A (p.His606Asn) c.1783C>A (p.His595Asn) | |
3 | g.189894281C>G | CA355751276 | TP63 | c.1822C>G (p.His608Asp) c.1540C>G (p.His514Asp) c.*50C>G (n.*50C>G) c.1810C>G (p.His604Asp) c.1285C>G (p.His429Asp) c.1528C>G (p.His510Asp) c.*60C>G (n.*60C>G) c.1771C>G (p.His591Asp) c.1819C>G (p.His607Asp) c.1816C>G (p.His606Asp) c.1783C>G (p.His595Asp) | |
3 | g.189894281C>T | CA355751277 | TP63 | c.1822C>T (p.His608Tyr) c.1540C>T (p.His514Tyr) c.*50C>T (n.*50C>T) c.1810C>T (p.His604Tyr) c.1285C>T (p.His429Tyr) c.1528C>T (p.His510Tyr) c.*60C>T (n.*60C>T) c.1771C>T (p.His591Tyr) c.1819C>T (p.His607Tyr) c.1816C>T (p.His606Tyr) c.1783C>T (p.His595Tyr) | dbSNP |
3 | g.189894282A>C | CA355751278 | TP63 | c.1823A>C (p.His608Pro) c.1541A>C (p.His514Pro) c.*51A>C (n.*51A>C) c.1811A>C (p.His604Pro) c.1286A>C (p.His429Pro) c.1529A>C (p.His510Pro) c.*61A>C (n.*61A>C) c.1772A>C (p.His591Pro) c.1820A>C (p.His607Pro) c.1817A>C (p.His606Pro) c.1784A>C (p.His595Pro) | dbSNP |
3 | g.189894282A>G | CA355751279 | TP63 | c.1823A>G (p.His608Arg) c.1541A>G (p.His514Arg) c.*51A>G (n.*51A>G) c.1811A>G (p.His604Arg) c.1286A>G (p.His429Arg) c.1529A>G (p.His510Arg) c.*61A>G (n.*61A>G) c.1772A>G (p.His591Arg) c.1820A>G (p.His607Arg) c.1817A>G (p.His606Arg) c.1784A>G (p.His595Arg) | dbSNP |
3 | g.189894282A>T | CA355751280 | TP63 | c.1823A>T (p.His608Leu) c.1541A>T (p.His514Leu) c.*51A>T (n.*51A>T) c.1811A>T (p.His604Leu) c.1286A>T (p.His429Leu) c.1529A>T (p.His510Leu) c.*61A>T (n.*61A>T) c.1772A>T (p.His591Leu) c.1820A>T (p.His607Leu) c.1817A>T (p.His606Leu) c.1784A>T (p.His595Leu) | dbSNP |
3 | g.189894283C>A | CA355751281 | TP63 | c.1824C>A (p.His608Gln) c.1542C>A (p.His514Gln) c.*52C>A (n.*52C>A) c.1812C>A (p.His604Gln) c.1287C>A (p.His429Gln) c.1530C>A (p.His510Gln) c.*62C>A (n.*62C>A) c.1773C>A (p.His591Gln) c.1821C>A (p.His607Gln) c.1818C>A (p.His606Gln) c.1785C>A (p.His595Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894283C= | CA1428535223 | TP63 | c.1824C= (p.His608=) c.1542C= (p.His514=) c.*52C= (n.*52C=) c.1812C= (p.His604=) c.1287C= (p.His429=) c.1530C= (p.His510=) c.*62C= (n.*62C=) c.1773C= (p.His591=) c.1821C= (p.His607=) c.1818C= (p.His606=) c.1785C= (p.His595=) | |
3 | g.189894283C>G | CA355751282 | TP63 | c.1824C>G (p.His608Gln) c.1542C>G (p.His514Gln) c.*52C>G (n.*52C>G) c.1812C>G (p.His604Gln) c.1287C>G (p.His429Gln) c.1530C>G (p.His510Gln) c.*62C>G (n.*62C>G) c.1773C>G (p.His591Gln) c.1821C>G (p.His607Gln) c.1818C>G (p.His606Gln) c.1785C>G (p.His595Gln) | dbSNP |
3 | g.189894283C>T | CA2752584 | TP63 | c.1824C>T (p.His608=) c.1542C>T (p.His514=) c.*52C>T (n.*52C>T) c.1812C>T (p.His604=) c.1287C>T (p.His429=) c.1530C>T (p.His510=) c.*62C>T (n.*62C>T) c.1773C>T (p.His591=) c.1821C>T (p.His607=) c.1818C>T (p.His606=) c.1785C>T (p.His595=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894284G>A | CA89713282 | TP63 | c.1825G>A (p.Glu609Lys) c.1543G>A (p.Glu515Lys) c.*53G>A (n.*53G>A) c.1813G>A (p.Glu605Lys) c.1288G>A (p.Glu430Lys) c.1531G>A (p.Glu511Lys) c.*63G>A (n.*63G>A) c.1774G>A (p.Glu592Lys) c.1822G>A (p.Glu608Lys) c.1819G>A (p.Glu607Lys) c.1786G>A (p.Glu596Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.189894284G>C | CA355751283 | TP63 | c.1825G>C (p.Glu609Gln) c.1543G>C (p.Glu515Gln) c.*53G>C (n.*53G>C) c.1813G>C (p.Glu605Gln) c.1288G>C (p.Glu430Gln) c.1531G>C (p.Glu511Gln) c.*63G>C (n.*63G>C) c.1774G>C (p.Glu592Gln) c.1822G>C (p.Glu608Gln) c.1819G>C (p.Glu607Gln) c.1786G>C (p.Glu596Gln) | dbSNP |
3 | g.189894284G= | CA1428535224 | TP63 | c.1825G= (p.Glu609=) c.1543G= (p.Glu515=) c.*53G= (n.*53G=) c.1813G= (p.Glu605=) c.1288G= (p.Glu430=) c.1531G= (p.Glu511=) c.*63G= (n.*63G=) c.1774G= (p.Glu592=) c.1822G= (p.Glu608=) c.1819G= (p.Glu607=) c.1786G= (p.Glu596=) | |
3 | g.189894284G>T | CA355751284 | TP63 | c.1825G>T (p.Glu609Ter) c.1543G>T (p.Glu515Ter) c.*53G>T (n.*53G>T) c.1813G>T (p.Glu605Ter) c.1288G>T (p.Glu430Ter) c.1531G>T (p.Glu511Ter) c.*63G>T (n.*63G>T) c.1774G>T (p.Glu592Ter) c.1822G>T (p.Glu608Ter) c.1819G>T (p.Glu607Ter) c.1786G>T (p.Glu596Ter) | dbSNP |
3 | g.189894285A>C | CA355751287 | TP63 | c.1826A>C (p.Glu609Ala) c.1544A>C (p.Glu515Ala) c.*54A>C (n.*54A>C) c.1814A>C (p.Glu605Ala) c.1289A>C (p.Glu430Ala) c.1532A>C (p.Glu511Ala) c.*64A>C (n.*64A>C) c.1775A>C (p.Glu592Ala) c.1823A>C (p.Glu608Ala) c.1820A>C (p.Glu607Ala) c.1787A>C (p.Glu596Ala) | |
3 | g.189894285A>G | CA355751285 | TP63 | c.1826A>G (p.Glu609Gly) c.1544A>G (p.Glu515Gly) c.*54A>G (n.*54A>G) c.1814A>G (p.Glu605Gly) c.1289A>G (p.Glu430Gly) c.1532A>G (p.Glu511Gly) c.*64A>G (n.*64A>G) c.1775A>G (p.Glu592Gly) c.1823A>G (p.Glu608Gly) c.1820A>G (p.Glu607Gly) c.1787A>G (p.Glu596Gly) | |
3 | g.189894285A>T | CA355751286 | TP63 | c.1826A>T (p.Glu609Val) c.1544A>T (p.Glu515Val) c.*54A>T (n.*54A>T) c.1814A>T (p.Glu605Val) c.1289A>T (p.Glu430Val) c.1532A>T (p.Glu511Val) c.*64A>T (n.*64A>T) c.1775A>T (p.Glu592Val) c.1823A>T (p.Glu608Val) c.1820A>T (p.Glu607Val) c.1787A>T (p.Glu596Val) | dbSNP |
3 | g.189894286del | CA2580070516 | TP63 | c.1827del (p.Glu609AspfsTer?) c.1545del (p.Glu515AspfsTer?) c.*55del (n.*55del) c.1815del (p.Glu605AspfsTer?) c.1290del (p.Glu430AspfsTer?) c.1533del (p.Glu511AspfsTer?) c.*65del (n.*65del) c.1776del (p.Glu592AspfsTer?) c.1824del (p.Glu608AspfsTer?) c.1821del (p.Glu607AspfsTer?) c.1788del (p.Glu596AspfsTer?) | ClinVar dbSNP |
3 | g.189894286A= | CA1428535225 | TP63 | c.1827A= (p.Glu609=) c.1545A= (p.Glu515=) c.*55A= (n.*55A=) c.1815A= (p.Glu605=) c.1290A= (p.Glu430=) c.1533A= (p.Glu511=) c.*65A= (n.*65A=) c.1776A= (p.Glu592=) c.1824A= (p.Glu608=) c.1821A= (p.Glu607=) c.1788A= (p.Glu596=) | |
3 | g.189894286A>C | CA355751288 | TP63 | c.1827A>C (p.Glu609Asp) c.1545A>C (p.Glu515Asp) c.*55A>C (n.*55A>C) c.1815A>C (p.Glu605Asp) c.1290A>C (p.Glu430Asp) c.1533A>C (p.Glu511Asp) c.*65A>C (n.*65A>C) c.1776A>C (p.Glu592Asp) c.1824A>C (p.Glu608Asp) c.1821A>C (p.Glu607Asp) c.1788A>C (p.Glu596Asp) | |
3 | g.189894286A>G | CA2752585 | TP63 | c.1827A>G (p.Glu609=) c.1545A>G (p.Glu515=) c.*55A>G (n.*55A>G) c.1815A>G (p.Glu605=) c.1290A>G (p.Glu430=) c.1533A>G (p.Glu511=) c.*65A>G (n.*65A>G) c.1776A>G (p.Glu592=) c.1824A>G (p.Glu608=) c.1821A>G (p.Glu607=) c.1788A>G (p.Glu596=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894286A>T | CA355751289 | TP63 | c.1827A>T (p.Glu609Asp) c.1545A>T (p.Glu515Asp) c.*55A>T (n.*55A>T) c.1815A>T (p.Glu605Asp) c.1290A>T (p.Glu430Asp) c.1533A>T (p.Glu511Asp) c.*65A>T (n.*65A>T) c.1776A>T (p.Glu592Asp) c.1824A>T (p.Glu608Asp) c.1821A>T (p.Glu607Asp) c.1788A>T (p.Glu596Asp) | |
3 | g.189894287T>A | CA355751290 | TP63 | c.1828T>A (p.Phe610Ile) c.1546T>A (p.Phe516Ile) c.*56T>A (n.*56T>A) c.1816T>A (p.Phe606Ile) c.1291T>A (p.Phe431Ile) c.1534T>A (p.Phe512Ile) c.*66T>A (n.*66T>A) c.1777T>A (p.Phe593Ile) c.1825T>A (p.Phe609Ile) c.1822T>A (p.Phe608Ile) c.1789T>A (p.Phe597Ile) | |
3 | g.189894287T>C | CA355751291 | TP63 | c.1828T>C (p.Phe610Leu) c.1546T>C (p.Phe516Leu) c.*56T>C (n.*56T>C) c.1816T>C (p.Phe606Leu) c.1291T>C (p.Phe431Leu) c.1534T>C (p.Phe512Leu) c.*66T>C (n.*66T>C) c.1777T>C (p.Phe593Leu) c.1825T>C (p.Phe609Leu) c.1822T>C (p.Phe608Leu) c.1789T>C (p.Phe597Leu) | |
3 | g.189894287T>G | CA355751292 | TP63 | c.1828T>G (p.Phe610Val) c.1546T>G (p.Phe516Val) c.*56T>G (n.*56T>G) c.1816T>G (p.Phe606Val) c.1291T>G (p.Phe431Val) c.1534T>G (p.Phe512Val) c.*66T>G (n.*66T>G) c.1777T>G (p.Phe593Val) c.1825T>G (p.Phe609Val) c.1822T>G (p.Phe608Val) c.1789T>G (p.Phe597Val) | |
3 | g.189894292_189894302dup | CA2580070517 | TP63 | c.1833_1843dup (p.His615ProfsTer?) c.1551_1561dup (p.His521ProfsTer?) c.*61_*71dup (n.*61_*71dup) c.1821_1831dup (p.His611ProfsTer?) c.1296_1306dup (p.His436ProfsTer?) c.1539_1549dup (p.His517ProfsTer?) c.*71_*81dup (n.*71_*81dup) c.1782_1792dup (p.His598ProfsTer?) c.1830_1840dup (p.His614ProfsTer?) c.1827_1837dup (p.His613ProfsTer?) c.1794_1804dup (p.His602ProfsTer?) | ClinVar |
3 | g.189894288T>A | CA355751293 | TP63 | c.1829T>A (p.Phe610Tyr) c.1547T>A (p.Phe516Tyr) c.*57T>A (n.*57T>A) c.1817T>A (p.Phe606Tyr) c.1292T>A (p.Phe431Tyr) c.1535T>A (p.Phe512Tyr) c.*67T>A (n.*67T>A) c.1778T>A (p.Phe593Tyr) c.1826T>A (p.Phe609Tyr) c.1823T>A (p.Phe608Tyr) c.1790T>A (p.Phe597Tyr) | dbSNP |
3 | g.189894288T>C | CA355751294 | TP63 | c.1829T>C (p.Phe610Ser) c.1547T>C (p.Phe516Ser) c.*57T>C (n.*57T>C) c.1817T>C (p.Phe606Ser) c.1292T>C (p.Phe431Ser) c.1535T>C (p.Phe512Ser) c.*67T>C (n.*67T>C) c.1778T>C (p.Phe593Ser) c.1826T>C (p.Phe609Ser) c.1823T>C (p.Phe608Ser) c.1790T>C (p.Phe597Ser) | dbSNP |
3 | g.189894288T>G | CA2752586 | TP63 | c.1829T>G (p.Phe610Cys) c.1547T>G (p.Phe516Cys) c.*57T>G (n.*57T>G) c.1817T>G (p.Phe606Cys) c.1292T>G (p.Phe431Cys) c.1535T>G (p.Phe512Cys) c.*67T>G (n.*67T>G) c.1778T>G (p.Phe593Cys) c.1826T>G (p.Phe609Cys) c.1823T>G (p.Phe608Cys) c.1790T>G (p.Phe597Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.189894288T= | CA1428535226 | TP63 | c.1829T= (p.Phe610=) c.1547T= (p.Phe516=) c.*57T= (n.*57T=) c.1817T= (p.Phe606=) c.1292T= (p.Phe431=) c.1535T= (p.Phe512=) c.*67T= (n.*67T=) c.1778T= (p.Phe593=) c.1826T= (p.Phe609=) c.1823T= (p.Phe608=) c.1790T= (p.Phe597=) | |
3 | g.189894288_189894291delinsTCTC | CA1428535227 | TP63 | c.1829_1832delinsTCTC (p.Phe610=) c.1547_1550delinsTCTC (p.Phe516=) c.*57_*60delinsTCTC (n.*57_*60delinsTCTC) c.1817_1820delinsTCTC (p.Phe606=) c.1292_1295delinsTCTC (p.Phe431=) c.1535_1538delinsTCTC (p.Phe512=) c.*67_*70delinsTCTC (n.*67_*70delinsTCTC) c.1778_1781delinsTCTC (p.Phe593=) c.1826_1829delinsTCTC (p.Phe609=) c.1823_1826delinsTCTC (p.Phe608=) c.1790_1793delinsTCTC (p.Phe597=) | |
3 | g.189894289C>A | CA89713288 | TP63 | c.1830C>A (p.Phe610Leu) c.1548C>A (p.Phe516Leu) c.*58C>A (n.*58C>A) c.1818C>A (p.Phe606Leu) c.1293C>A (p.Phe431Leu) c.1536C>A (p.Phe512Leu) c.*68C>A (n.*68C>A) c.1779C>A (p.Phe593Leu) c.1827C>A (p.Phe609Leu) c.1824C>A (p.Phe608Leu) c.1791C>A (p.Phe597Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.189894289C= | CA1428535228 | TP63 | c.1830C= (p.Phe610=) c.1548C= (p.Phe516=) c.*58C= (n.*58C=) c.1818C= (p.Phe606=) c.1293C= (p.Phe431=) c.1536C= (p.Phe512=) c.*68C= (n.*68C=) c.1779C= (p.Phe593=) c.1827C= (p.Phe609=) c.1824C= (p.Phe608=) c.1791C= (p.Phe597=) | |
3 | g.189894289C>G | CA355751295 | TP63 | c.1830C>G (p.Phe610Leu) c.1548C>G (p.Phe516Leu) c.*58C>G (n.*58C>G) c.1818C>G (p.Phe606Leu) c.1293C>G (p.Phe431Leu) c.1536C>G (p.Phe512Leu) c.*68C>G (n.*68C>G) c.1779C>G (p.Phe593Leu) c.1827C>G (p.Phe609Leu) c.1824C>G (p.Phe608Leu) c.1791C>G (p.Phe597Leu) | dbSNP |
3 | g.189894289C>T | CA437637044 | TP63 | c.1830C>T (p.Phe610=) c.1548C>T (p.Phe516=) c.*58C>T (n.*58C>T) c.1818C>T (p.Phe606=) c.1293C>T (p.Phe431=) c.1536C>T (p.Phe512=) c.*68C>T (n.*68C>T) c.1779C>T (p.Phe593=) c.1827C>T (p.Phe609=) c.1824C>T (p.Phe608=) c.1791C>T (p.Phe597=) | dbSNP |
3 | g.189894293_189894295del | CA548798318 | TP63 | c.1834_1836del (p.Ser612del) c.1552_1554del (p.Ser518del) c.*62_*64del (n.*62_*64del) c.1822_1824del (p.Ser608del) c.1297_1299del (p.Ser433del) c.1540_1542del (p.Ser514del) c.*72_*74del (n.*72_*74del) c.1783_1785del (p.Ser595del) c.1831_1833del (p.Ser611del) c.1828_1830del (p.Ser610del) c.1795_1797del (p.Ser599del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.189894290T>A | CA355751298 | TP63 | c.1831T>A (p.Ser611Thr) c.1549T>A (p.Ser517Thr) c.*59T>A (n.*59T>A) c.1819T>A (p.Ser607Thr) c.1294T>A (p.Ser432Thr) c.1537T>A (p.Ser513Thr) c.*69T>A (n.*69T>A) c.1780T>A (p.Ser594Thr) c.1828T>A (p.Ser610Thr) c.1825T>A (p.Ser609Thr) c.1792T>A (p.Ser598Thr) | dbSNP |
3 | g.189894290T>C | CA355751297 | TP63 | c.1831T>C (p.Ser611Pro) c.1549T>C (p.Ser517Pro) c.*59T>C (n.*59T>C) c.1819T>C (p.Ser607Pro) c.1294T>C (p.Ser432Pro) c.1537T>C (p.Ser513Pro) c.*69T>C (n.*69T>C) c.1780T>C (p.Ser594Pro) c.1828T>C (p.Ser610Pro) c.1825T>C (p.Ser609Pro) c.1792T>C (p.Ser598Pro) | dbSNP |
3 | g.189894290T>G | CA355751296 | TP63 | c.1831T>G (p.Ser611Ala) c.1549T>G (p.Ser517Ala) c.*59T>G (n.*59T>G) c.1819T>G (p.Ser607Ala) c.1294T>G (p.Ser432Ala) c.1537T>G (p.Ser513Ala) c.*69T>G (n.*69T>G) c.1780T>G (p.Ser594Ala) c.1828T>G (p.Ser610Ala) c.1825T>G (p.Ser609Ala) c.1792T>G (p.Ser598Ala) | |
3 | g.189894291C>A | CA355751299 | TP63 | c.1832C>A (p.Ser611Tyr) c.1550C>A (p.Ser517Tyr) c.*60C>A (n.*60C>A) c.1820C>A (p.Ser607Tyr) c.1295C>A (p.Ser432Tyr) c.1538C>A (p.Ser513Tyr) c.*70C>A (n.*70C>A) c.1781C>A (p.Ser594Tyr) c.1829C>A (p.Ser610Tyr) c.1826C>A (p.Ser609Tyr) c.1793C>A (p.Ser598Tyr) | dbSNP |
3 | g.189894291C>G | CA355751300 | TP63 | c.1832C>G (p.Ser611Cys) c.1550C>G (p.Ser517Cys) c.*60C>G (n.*60C>G) c.1820C>G (p.Ser607Cys) c.1295C>G (p.Ser432Cys) c.1538C>G (p.Ser513Cys) c.*70C>G (n.*70C>G) c.1781C>G (p.Ser594Cys) c.1829C>G (p.Ser610Cys) c.1826C>G (p.Ser609Cys) c.1793C>G (p.Ser598Cys) | dbSNP |
3 | g.189894291C>T | CA355751301 | TP63 | c.1832C>T (p.Ser611Phe) c.1550C>T (p.Ser517Phe) c.*60C>T (n.*60C>T) c.1820C>T (p.Ser607Phe) c.1295C>T (p.Ser432Phe) c.1538C>T (p.Ser513Phe) c.*70C>T (n.*70C>T) c.1781C>T (p.Ser594Phe) c.1829C>T (p.Ser610Phe) c.1826C>T (p.Ser609Phe) c.1793C>T (p.Ser598Phe) | dbSNP |
3 | g.189894292C>A | CA437637049 | TP63 | c.1833C>A (p.Ser611=) c.1551C>A (p.Ser517=) c.*61C>A (n.*61C>A) c.1821C>A (p.Ser607=) c.1296C>A (p.Ser432=) c.1539C>A (p.Ser513=) c.*71C>A (n.*71C>A) c.1782C>A (p.Ser594=) c.1830C>A (p.Ser610=) c.1827C>A (p.Ser609=) c.1794C>A (p.Ser598=) | dbSNP |
3 | g.189894292C>G | CA437637050 | TP63 | c.1833C>G (p.Ser611=) c.1551C>G (p.Ser517=) c.*61C>G (n.*61C>G) c.1821C>G (p.Ser607=) c.1296C>G (p.Ser432=) c.1539C>G (p.Ser513=) c.*71C>G (n.*71C>G) c.1782C>G (p.Ser594=) c.1830C>G (p.Ser610=) c.1827C>G (p.Ser609=) c.1794C>G (p.Ser598=) | |
3 | g.189894292C>T | CA437637051 | TP63 | c.1833C>T (p.Ser611=) c.1551C>T (p.Ser517=) c.*61C>T (n.*61C>T) c.1821C>T (p.Ser607=) c.1296C>T (p.Ser432=) c.1539C>T (p.Ser513=) c.*71C>T (n.*71C>T) c.1782C>T (p.Ser594=) c.1830C>T (p.Ser610=) c.1827C>T (p.Ser609=) c.1794C>T (p.Ser598=) | dbSNP gnomAD v4 |
3 | g.189894293T>A | CA355751302 | TP63 | c.1834T>A (p.Ser612Thr) c.1552T>A (p.Ser518Thr) c.*62T>A (n.*62T>A) c.1822T>A (p.Ser608Thr) c.1297T>A (p.Ser433Thr) c.1540T>A (p.Ser514Thr) c.*72T>A (n.*72T>A) c.1783T>A (p.Ser595Thr) c.1831T>A (p.Ser611Thr) c.1828T>A (p.Ser610Thr) c.1795T>A (p.Ser599Thr) | |
3 | g.189894293T>C | CA355751303 | TP63 | c.1834T>C (p.Ser612Pro) c.1552T>C (p.Ser518Pro) c.*62T>C (n.*62T>C) c.1822T>C (p.Ser608Pro) c.1297T>C (p.Ser433Pro) c.1540T>C (p.Ser514Pro) c.*72T>C (n.*72T>C) c.1783T>C (p.Ser595Pro) c.1831T>C (p.Ser611Pro) c.1828T>C (p.Ser610Pro) c.1795T>C (p.Ser599Pro) | |
3 | g.189894293T>G | CA355751304 | TP63 | c.1834T>G (p.Ser612Ala) c.1552T>G (p.Ser518Ala) c.*62T>G (n.*62T>G) c.1822T>G (p.Ser608Ala) c.1297T>G (p.Ser433Ala) c.1540T>G (p.Ser514Ala) c.*72T>G (n.*72T>G) c.1783T>G (p.Ser595Ala) c.1831T>G (p.Ser611Ala) c.1828T>G (p.Ser610Ala) c.1795T>G (p.Ser599Ala) | ClinVar dbSNP |
3 | g.189894293T= | CA1428535229 | TP63 | c.1834T= (p.Ser612=) c.1552T= (p.Ser518=) c.*62T= (n.*62T=) c.1822T= (p.Ser608=) c.1297T= (p.Ser433=) c.1540T= (p.Ser514=) c.*72T= (n.*72T=) c.1783T= (p.Ser595=) c.1831T= (p.Ser611=) c.1828T= (p.Ser610=) c.1795T= (p.Ser599=) | |
3 | g.189894294C>A | CA355751305 | TP63 | c.1835C>A (p.Ser612Tyr) c.1553C>A (p.Ser518Tyr) c.*63C>A (n.*63C>A) c.1823C>A (p.Ser608Tyr) c.1298C>A (p.Ser433Tyr) c.1541C>A (p.Ser514Tyr) c.*73C>A (n.*73C>A) c.1784C>A (p.Ser595Tyr) c.1832C>A (p.Ser611Tyr) c.1829C>A (p.Ser610Tyr) c.1796C>A (p.Ser599Tyr) | dbSNP gnomAD v4 |
3 | g.189894294C>G | CA355751306 | TP63 | c.1835C>G (p.Ser612Cys) c.1553C>G (p.Ser518Cys) c.*63C>G (n.*63C>G) c.1823C>G (p.Ser608Cys) c.1298C>G (p.Ser433Cys) c.1541C>G (p.Ser514Cys) c.*73C>G (n.*73C>G) c.1784C>G (p.Ser595Cys) c.1832C>G (p.Ser611Cys) c.1829C>G (p.Ser610Cys) c.1796C>G (p.Ser599Cys) | dbSNP |
3 | g.189894294C>T | CA355751307 | TP63 | c.1835C>T (p.Ser612Phe) c.1553C>T (p.Ser518Phe) c.*63C>T (n.*63C>T) c.1823C>T (p.Ser608Phe) c.1298C>T (p.Ser433Phe) c.1541C>T (p.Ser514Phe) c.*73C>T (n.*73C>T) c.1784C>T (p.Ser595Phe) c.1832C>T (p.Ser611Phe) c.1829C>T (p.Ser610Phe) c.1796C>T (p.Ser599Phe) | dbSNP gnomAD v4 |
3 | g.189894297del | CA2586973405 | TP63 | c.1838del (p.Pro613LeufsTer?) c.1556del (p.Pro519LeufsTer?) c.*66del (n.*66del) c.1826del (p.Pro609LeufsTer?) c.1301del (p.Pro434LeufsTer?) c.1544del (p.Pro515LeufsTer?) c.*76del (n.*76del) c.1787del (p.Pro596LeufsTer?) c.1835del (p.Pro612LeufsTer?) c.1832del (p.Pro611LeufsTer?) c.1799del (p.Pro600LeufsTer?) | |
3 | g.189894294_189894299delinsCCCCTT | CA1428535230 | TP63 | c.1835_1840delinsCCCCTT (p.Ser612=) c.1553_1558delinsCCCCTT (p.Ser518=) c.*63_*68delinsCCCCTT (n.*63_*68delinsCCCCTT) c.1823_1828delinsCCCCTT (p.Ser608=) c.1298_1303delinsCCCCTT (p.Ser433=) c.1541_1546delinsCCCCTT (p.Ser514=) c.*73_*78delinsCCCCTT (n.*73_*78delinsCCCCTT) c.1784_1789delinsCCCCTT (p.Ser595=) c.1832_1837delinsCCCCTT (p.Ser611=) c.1829_1834delinsCCCCTT (p.Ser610=) c.1796_1801delinsCCCCTT (p.Ser599=) | |
3 | g.189894295C>A | CA437637056 | TP63 | c.1836C>A (p.Ser612=) c.1554C>A (p.Ser518=) c.*64C>A (n.*64C>A) c.1824C>A (p.Ser608=) c.1299C>A (p.Ser433=) c.1542C>A (p.Ser514=) c.*74C>A (n.*74C>A) c.1785C>A (p.Ser595=) c.1833C>A (p.Ser611=) c.1830C>A (p.Ser610=) c.1797C>A (p.Ser599=) | dbSNP |
3 | g.189894295C>G | CA437637055 | TP63 | c.1836C>G (p.Ser612=) c.1554C>G (p.Ser518=) c.*64C>G (n.*64C>G) c.1824C>G (p.Ser608=) c.1299C>G (p.Ser433=) c.1542C>G (p.Ser514=) c.*74C>G (n.*74C>G) c.1785C>G (p.Ser595=) c.1833C>G (p.Ser611=) c.1830C>G (p.Ser610=) c.1797C>G (p.Ser599=) | dbSNP gnomAD v4 |
3 | g.189894295C>T | CA437637058 | TP63 | c.1836C>T (p.Ser612=) c.1554C>T (p.Ser518=) c.*64C>T (n.*64C>T) c.1824C>T (p.Ser608=) c.1299C>T (p.Ser433=) c.1542C>T (p.Ser514=) c.*74C>T (n.*74C>T) c.1785C>T (p.Ser595=) c.1833C>T (p.Ser611=) c.1830C>T (p.Ser610=) c.1797C>T (p.Ser599=) | dbSNP |
3 | g.189894296_189894300del | CA201154 | TP63 | c.1837_1841del (p.Pro613SerfsTer18) c.1555_1559del (p.Pro519SerfsTer18) c.*65_*69del (n.*65_*69del) c.1825_1829del (p.Pro609SerfsTer18) c.1300_1304del (p.Pro434SerfsTer18) c.1543_1547del (p.Pro515SerfsTer18) c.*75_*79del (n.*75_*79del) c.1786_1790del (p.Pro596SerfsTer18) c.1834_1838del (p.Pro612SerfsTer18) c.1831_1835del (p.Pro611SerfsTer18) c.1798_1802del (p.Pro600SerfsTer18) | ClinVar dbSNP |
3 | g.189894296C>A | CA355751308 | TP63 | c.1837C>A (p.Pro613Thr) c.1555C>A (p.Pro519Thr) c.*65C>A (n.*65C>A) c.1825C>A (p.Pro609Thr) c.1300C>A (p.Pro434Thr) c.1543C>A (p.Pro515Thr) c.*75C>A (n.*75C>A) c.1786C>A (p.Pro596Thr) c.1834C>A (p.Pro612Thr) c.1831C>A (p.Pro611Thr) c.1798C>A (p.Pro600Thr) | dbSNP |
3 | g.189894296C= | CA1428535231 | TP63 | c.1837C= (p.Pro613=) c.1555C= (p.Pro519=) c.*65C= (n.*65C=) c.1825C= (p.Pro609=) c.1300C= (p.Pro434=) c.1543C= (p.Pro515=) c.*75C= (n.*75C=) c.1786C= (p.Pro596=) c.1834C= (p.Pro612=) c.1831C= (p.Pro611=) c.1798C= (p.Pro600=) | |
3 | g.189894296C>G | CA355751309 | TP63 | c.1837C>G (p.Pro613Ala) c.1555C>G (p.Pro519Ala) c.*65C>G (n.*65C>G) c.1825C>G (p.Pro609Ala) c.1300C>G (p.Pro434Ala) c.1543C>G (p.Pro515Ala) c.*75C>G (n.*75C>G) c.1786C>G (p.Pro596Ala) c.1834C>G (p.Pro612Ala) c.1831C>G (p.Pro611Ala) c.1798C>G (p.Pro600Ala) | dbSNP |
3 | g.189894296C>T | CA89713289 | TP63 | c.1837C>T (p.Pro613Ser) c.1555C>T (p.Pro519Ser) c.*65C>T (n.*65C>T) c.1825C>T (p.Pro609Ser) c.1300C>T (p.Pro434Ser) c.1543C>T (p.Pro515Ser) c.*75C>T (n.*75C>T) c.1786C>T (p.Pro596Ser) c.1834C>T (p.Pro612Ser) c.1831C>T (p.Pro611Ser) c.1798C>T (p.Pro600Ser) | dbSNP gnomAD v4 |
3 | g.189894297C>A | CA355751312 | TP63 | c.1838C>A (p.Pro613His) c.1556C>A (p.Pro519His) c.*66C>A (n.*66C>A) c.1826C>A (p.Pro609His) c.1301C>A (p.Pro434His) c.1544C>A (p.Pro515His) c.*76C>A (n.*76C>A) c.1787C>A (p.Pro596His) c.1835C>A (p.Pro612His) c.1832C>A (p.Pro611His) c.1799C>A (p.Pro600His) | |
3 | g.189894297C= | CA1428535232 | TP63 | c.1838C= (p.Pro613=) c.1556C= (p.Pro519=) c.*66C= (n.*66C=) c.1826C= (p.Pro609=) c.1301C= (p.Pro434=) c.1544C= (p.Pro515=) c.*76C= (n.*76C=) c.1787C= (p.Pro596=) c.1835C= (p.Pro612=) c.1832C= (p.Pro611=) c.1799C= (p.Pro600=) | |
3 | g.189894297C>G | CA355751310 | TP63 | c.1838C>G (p.Pro613Arg) c.1556C>G (p.Pro519Arg) c.*66C>G (n.*66C>G) c.1826C>G (p.Pro609Arg) c.1301C>G (p.Pro434Arg) c.1544C>G (p.Pro515Arg) c.*76C>G (n.*76C>G) c.1787C>G (p.Pro596Arg) c.1835C>G (p.Pro612Arg) c.1832C>G (p.Pro611Arg) c.1799C>G (p.Pro600Arg) | |
3 | g.189894297C>T | CA355751311 | TP63 | c.1838C>T (p.Pro613Leu) c.1556C>T (p.Pro519Leu) c.*66C>T (n.*66C>T) c.1826C>T (p.Pro609Leu) c.1301C>T (p.Pro434Leu) c.1544C>T (p.Pro515Leu) c.*76C>T (n.*76C>T) c.1787C>T (p.Pro596Leu) c.1835C>T (p.Pro612Leu) c.1832C>T (p.Pro611Leu) c.1799C>T (p.Pro600Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.189894298T>A | CA437637064 | TP63 | c.1839T>A (p.Pro613=) c.1557T>A (p.Pro519=) c.*67T>A (n.*67T>A) c.1827T>A (p.Pro609=) c.1302T>A (p.Pro434=) c.1545T>A (p.Pro515=) c.*77T>A (n.*77T>A) c.1788T>A (p.Pro596=) c.1836T>A (p.Pro612=) c.1833T>A (p.Pro611=) c.1800T>A (p.Pro600=) | |
3 | g.189894298T>C | CA437637065 | TP63 | c.1839T>C (p.Pro613=) c.1557T>C (p.Pro519=) c.*67T>C (n.*67T>C) c.1827T>C (p.Pro609=) c.1302T>C (p.Pro434=) c.1545T>C (p.Pro515=) c.*77T>C (n.*77T>C) c.1788T>C (p.Pro596=) c.1836T>C (p.Pro612=) c.1833T>C (p.Pro611=) c.1800T>C (p.Pro600=) | dbSNP |
3 | g.189894298T>G | CA437637066 | TP63 | c.1839T>G (p.Pro613=) c.1557T>G (p.Pro519=) c.*67T>G (n.*67T>G) c.1827T>G (p.Pro609=) c.1302T>G (p.Pro434=) c.1545T>G (p.Pro515=) c.*77T>G (n.*77T>G) c.1788T>G (p.Pro596=) c.1836T>G (p.Pro612=) c.1833T>G (p.Pro611=) c.1800T>G (p.Pro600=) | |
3 | g.189894299T>A | CA355751313 | TP63 | c.1840T>A (p.Ser614Thr) c.1558T>A (p.Ser520Thr) c.*68T>A (n.*68T>A) c.1828T>A (p.Ser610Thr) c.1303T>A (p.Ser435Thr) c.1546T>A (p.Ser516Thr) c.*78T>A (n.*78T>A) c.1789T>A (p.Ser597Thr) c.1837T>A (p.Ser613Thr) c.1834T>A (p.Ser612Thr) c.1801T>A (p.Ser601Thr) | |
3 | g.189894299T>C | CA355751314 | TP63 | c.1840T>C (p.Ser614Pro) c.1558T>C (p.Ser520Pro) c.*68T>C (n.*68T>C) c.1828T>C (p.Ser610Pro) c.1303T>C (p.Ser435Pro) c.1546T>C (p.Ser516Pro) c.*78T>C (n.*78T>C) c.1789T>C (p.Ser597Pro) c.1837T>C (p.Ser613Pro) c.1834T>C (p.Ser612Pro) c.1801T>C (p.Ser601Pro) | dbSNP |
3 | g.189894299T>G | CA355751315 | TP63 | c.1840T>G (p.Ser614Ala) c.1558T>G (p.Ser520Ala) c.*68T>G (n.*68T>G) c.1828T>G (p.Ser610Ala) c.1303T>G (p.Ser435Ala) c.1546T>G (p.Ser516Ala) c.*78T>G (n.*78T>G) c.1789T>G (p.Ser597Ala) c.1837T>G (p.Ser613Ala) c.1834T>G (p.Ser612Ala) c.1801T>G (p.Ser601Ala) | |
3 | g.189894300C>A | CA355751316 | TP63 | c.1841C>A (p.Ser614Tyr) c.1559C>A (p.Ser520Tyr) c.*69C>A (n.*69C>A) c.1829C>A (p.Ser610Tyr) c.1304C>A (p.Ser435Tyr) c.1547C>A (p.Ser516Tyr) c.*79C>A (n.*79C>A) c.1790C>A (p.Ser597Tyr) c.1838C>A (p.Ser613Tyr) c.1835C>A (p.Ser612Tyr) c.1802C>A (p.Ser601Tyr) | dbSNP |
3 | g.189894300C>G | CA355751317 | TP63 | c.1841C>G (p.Ser614Cys) c.1559C>G (p.Ser520Cys) c.*69C>G (n.*69C>G) c.1829C>G (p.Ser610Cys) c.1304C>G (p.Ser435Cys) c.1547C>G (p.Ser516Cys) c.*79C>G (n.*79C>G) c.1790C>G (p.Ser597Cys) c.1838C>G (p.Ser613Cys) c.1835C>G (p.Ser612Cys) c.1802C>G (p.Ser601Cys) | dbSNP |
3 | g.189894300C>T | CA355751318 | TP63 | c.1841C>T (p.Ser614Phe) c.1559C>T (p.Ser520Phe) c.*69C>T (n.*69C>T) c.1829C>T (p.Ser610Phe) c.1304C>T (p.Ser435Phe) c.1547C>T (p.Ser516Phe) c.*79C>T (n.*79C>T) c.1790C>T (p.Ser597Phe) c.1838C>T (p.Ser613Phe) c.1835C>T (p.Ser612Phe) c.1802C>T (p.Ser601Phe) | dbSNP |
3 | g.189894301T>A | CA437637070 | TP63 | c.1842T>A (p.Ser614=) c.1560T>A (p.Ser520=) c.*70T>A (n.*70T>A) c.1830T>A (p.Ser610=) c.1305T>A (p.Ser435=) c.1548T>A (p.Ser516=) c.*80T>A (n.*80T>A) c.1791T>A (p.Ser597=) c.1839T>A (p.Ser613=) c.1836T>A (p.Ser612=) c.1803T>A (p.Ser601=) | |
3 | g.189894301T>C | CA437637072 | TP63 | c.1842T>C (p.Ser614=) c.1560T>C (p.Ser520=) c.*70T>C (n.*70T>C) c.1830T>C (p.Ser610=) c.1305T>C (p.Ser435=) c.1548T>C (p.Ser516=) c.*80T>C (n.*80T>C) c.1791T>C (p.Ser597=) c.1839T>C (p.Ser613=) c.1836T>C (p.Ser612=) c.1803T>C (p.Ser601=) | dbSNP |
3 | g.189894301T>G | CA437637071 | TP63 | c.1842T>G (p.Ser614=) c.1560T>G (p.Ser520=) c.*70T>G (n.*70T>G) c.1830T>G (p.Ser610=) c.1305T>G (p.Ser435=) c.1548T>G (p.Ser516=) c.*80T>G (n.*80T>G) c.1791T>G (p.Ser597=) c.1839T>G (p.Ser613=) c.1836T>G (p.Ser612=) c.1803T>G (p.Ser601=) | |
3 | g.189894302C>A | CA355751319 | TP63 | c.1843C>A (p.His615Asn) c.1561C>A (p.His521Asn) c.*71C>A (n.*71C>A) c.1831C>A (p.His611Asn) c.1306C>A (p.His436Asn) c.1549C>A (p.His517Asn) c.*81C>A (n.*81C>A) c.1792C>A (p.His598Asn) c.1840C>A (p.His614Asn) c.1837C>A (p.His613Asn) c.1804C>A (p.His602Asn) | dbSNP |
3 | g.189894302C>G | CA355751320 | TP63 | c.1843C>G (p.His615Asp) c.1561C>G (p.His521Asp) c.*71C>G (n.*71C>G) c.1831C>G (p.His611Asp) c.1306C>G (p.His436Asp) c.1549C>G (p.His517Asp) c.*81C>G (n.*81C>G) c.1792C>G (p.His598Asp) c.1840C>G (p.His614Asp) c.1837C>G (p.His613Asp) c.1804C>G (p.His602Asp) | |
3 | g.189894302C>T | CA355751321 | TP63 | c.1843C>T (p.His615Tyr) c.1561C>T (p.His521Tyr) c.*71C>T (n.*71C>T) c.1831C>T (p.His611Tyr) c.1306C>T (p.His436Tyr) c.1549C>T (p.His517Tyr) c.*81C>T (n.*81C>T) c.1792C>T (p.His598Tyr) c.1840C>T (p.His614Tyr) c.1837C>T (p.His613Tyr) c.1804C>T (p.His602Tyr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.189894303A= | CA1428535233 | TP63 | c.1844A= (p.His615=) c.1562A= (p.His521=) c.*72A= (n.*72A=) c.1832A= (p.His611=) c.1307A= (p.His436=) c.1550A= (p.His517=) c.*82A= (n.*82A=) c.1793A= (p.His598=) c.1841A= (p.His614=) c.1838A= (p.His613=) c.1805A= (p.His602=) | |
3 | g.189894303A>C | CA89713290 | TP63 | c.1844A>C (p.His615Pro) c.1562A>C (p.His521Pro) c.*72A>C (n.*72A>C) c.1832A>C (p.His611Pro) c.1307A>C (p.His436Pro) c.1550A>C (p.His517Pro) c.*82A>C (n.*82A>C) c.1793A>C (p.His598Pro) c.1841A>C (p.His614Pro) c.1838A>C (p.His613Pro) c.1805A>C (p.His602Pro) | dbSNP |
3 | g.189894303A>G | CA355751322 | TP63 | c.1844A>G (p.His615Arg) c.1562A>G (p.His521Arg) c.*72A>G (n.*72A>G) c.1832A>G (p.His611Arg) c.1307A>G (p.His436Arg) c.1550A>G (p.His517Arg) c.*82A>G (n.*82A>G) c.1793A>G (p.His598Arg) c.1841A>G (p.His614Arg) c.1838A>G (p.His613Arg) c.1805A>G (p.His602Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894303A>T | CA355751323 | TP63 | c.1844A>T (p.His615Leu) c.1562A>T (p.His521Leu) c.*72A>T (n.*72A>T) c.1832A>T (p.His611Leu) c.1307A>T (p.His436Leu) c.1550A>T (p.His517Leu) c.*82A>T (n.*82A>T) c.1793A>T (p.His598Leu) c.1841A>T (p.His614Leu) c.1838A>T (p.His613Leu) c.1805A>T (p.His602Leu) | dbSNP gnomAD v4 |
3 | g.189894304T>A | CA355751325 | TP63 | c.1845T>A (p.His615Gln) c.1563T>A (p.His521Gln) c.*73T>A (n.*73T>A) c.1833T>A (p.His611Gln) c.1308T>A (p.His436Gln) c.1551T>A (p.His517Gln) c.*83T>A (n.*83T>A) c.1794T>A (p.His598Gln) c.1842T>A (p.His614Gln) c.1839T>A (p.His613Gln) c.1806T>A (p.His602Gln) | |
3 | g.189894304T>C | CA437637075 | TP63 | c.1845T>C (p.His615=) c.1563T>C (p.His521=) c.*73T>C (n.*73T>C) c.1833T>C (p.His611=) c.1308T>C (p.His436=) c.1551T>C (p.His517=) c.*83T>C (n.*83T>C) c.1794T>C (p.His598=) c.1842T>C (p.His614=) c.1839T>C (p.His613=) c.1806T>C (p.His602=) | dbSNP |
3 | g.189894304T>G | CA355751324 | TP63 | c.1845T>G (p.His615Gln) c.1563T>G (p.His521Gln) c.*73T>G (n.*73T>G) c.1833T>G (p.His611Gln) c.1308T>G (p.His436Gln) c.1551T>G (p.His517Gln) c.*83T>G (n.*83T>G) c.1794T>G (p.His598Gln) c.1842T>G (p.His614Gln) c.1839T>G (p.His613Gln) c.1806T>G (p.His602Gln) | |
3 | g.189894304_189894305delinsTC | CA1428535234 | TP63 | c.1845_1846delinsTC (p.His615=) c.1563_1564delinsTC (p.His521=) c.*73_*74delinsTC (n.*73_*74delinsTC) c.1833_1834delinsTC (p.His611=) c.1308_1309delinsTC (p.His436=) c.1551_1552delinsTC (p.His517=) c.*83_*84delinsTC (n.*83_*84delinsTC) c.1794_1795delinsTC (p.His598=) c.1842_1843delinsTC (p.His614=) c.1839_1840delinsTC (p.His613=) c.1806_1807delinsTC (p.His602=) | |
3 | g.189894305del | CA343282 | TP63 | c.1846del (p.Leu616SerfsTer?) c.1564del (p.Leu522SerfsTer?) c.*74del (n.*74del) c.1834del (p.Leu612SerfsTer?) c.1309del (p.Leu437SerfsTer?) c.1552del (p.Leu518SerfsTer?) c.*84del (n.*84del) c.1795del (p.Leu599SerfsTer?) c.1843del (p.Leu615SerfsTer?) c.1840del (p.Leu614SerfsTer?) c.1807del (p.Leu603SerfsTer?) | ClinVar dbSNP |
3 | g.189894305C>A | CA355751326 | TP63 | c.1846C>A (p.Leu616Ile) c.1564C>A (p.Leu522Ile) c.*74C>A (n.*74C>A) c.1834C>A (p.Leu612Ile) c.1309C>A (p.Leu437Ile) c.1552C>A (p.Leu518Ile) c.*84C>A (n.*84C>A) c.1795C>A (p.Leu599Ile) c.1843C>A (p.Leu615Ile) c.1840C>A (p.Leu614Ile) c.1807C>A (p.Leu603Ile) | dbSNP |
3 | g.189894305C>G | CA355751327 | TP63 | c.1846C>G (p.Leu616Val) c.1564C>G (p.Leu522Val) c.*74C>G (n.*74C>G) c.1834C>G (p.Leu612Val) c.1309C>G (p.Leu437Val) c.1552C>G (p.Leu518Val) c.*84C>G (n.*84C>G) c.1795C>G (p.Leu599Val) c.1843C>G (p.Leu615Val) c.1840C>G (p.Leu614Val) c.1807C>G (p.Leu603Val) | |
3 | g.189894305C>T | CA355751328 | TP63 | c.1846C>T (p.Leu616Phe) c.1564C>T (p.Leu522Phe) c.*74C>T (n.*74C>T) c.1834C>T (p.Leu612Phe) c.1309C>T (p.Leu437Phe) c.1552C>T (p.Leu518Phe) c.*84C>T (n.*84C>T) c.1795C>T (p.Leu599Phe) c.1843C>T (p.Leu615Phe) c.1840C>T (p.Leu614Phe) c.1807C>T (p.Leu603Phe) | ClinVar dbSNP |
3 | g.189894306T>A | CA355751329 | TP63 | c.1847T>A (p.Leu616His) c.1565T>A (p.Leu522His) c.*75T>A (n.*75T>A) c.1835T>A (p.Leu612His) c.1310T>A (p.Leu437His) c.1553T>A (p.Leu518His) c.*85T>A (n.*85T>A) c.1796T>A (p.Leu599His) c.1844T>A (p.Leu615His) c.1841T>A (p.Leu614His) c.1808T>A (p.Leu603His) | |
3 | g.189894306T>C | CA355751330 | TP63 | c.1847T>C (p.Leu616Pro) c.1565T>C (p.Leu522Pro) c.*75T>C (n.*75T>C) c.1835T>C (p.Leu612Pro) c.1310T>C (p.Leu437Pro) c.1553T>C (p.Leu518Pro) c.*85T>C (n.*85T>C) c.1796T>C (p.Leu599Pro) c.1844T>C (p.Leu615Pro) c.1841T>C (p.Leu614Pro) c.1808T>C (p.Leu603Pro) | |
3 | g.189894306T>G | CA355751331 | TP63 | c.1847T>G (p.Leu616Arg) c.1565T>G (p.Leu522Arg) c.*75T>G (n.*75T>G) c.1835T>G (p.Leu612Arg) c.1310T>G (p.Leu437Arg) c.1553T>G (p.Leu518Arg) c.*85T>G (n.*85T>G) c.1796T>G (p.Leu599Arg) c.1844T>G (p.Leu615Arg) c.1841T>G (p.Leu614Arg) c.1808T>G (p.Leu603Arg) | |
3 | g.189894307C>A | CA437637077 | TP63 | c.1848C>A (p.Leu616=) c.1566C>A (p.Leu522=) c.*76C>A (n.*76C>A) c.1836C>A (p.Leu612=) c.1311C>A (p.Leu437=) c.1554C>A (p.Leu518=) c.*86C>A (n.*86C>A) c.1797C>A (p.Leu599=) c.1845C>A (p.Leu615=) c.1842C>A (p.Leu614=) c.1809C>A (p.Leu603=) | |
3 | g.189894307C>G | CA437637078 | TP63 | c.1848C>G (p.Leu616=) c.1566C>G (p.Leu522=) c.*76C>G (n.*76C>G) c.1836C>G (p.Leu612=) c.1311C>G (p.Leu437=) c.1554C>G (p.Leu518=) c.*86C>G (n.*86C>G) c.1797C>G (p.Leu599=) c.1845C>G (p.Leu615=) c.1842C>G (p.Leu614=) c.1809C>G (p.Leu603=) | dbSNP |
3 | g.189894307C>T | CA437637080 | TP63 | c.1848C>T (p.Leu616=) c.1566C>T (p.Leu522=) c.*76C>T (n.*76C>T) c.1836C>T (p.Leu612=) c.1311C>T (p.Leu437=) c.1554C>T (p.Leu518=) c.*86C>T (n.*86C>T) c.1797C>T (p.Leu599=) c.1845C>T (p.Leu615=) c.1842C>T (p.Leu614=) c.1809C>T (p.Leu603=) | dbSNP COSMIC COSMIC |
3 | g.189894308C>A | CA355751332 | TP63 | c.1849C>A (p.Leu617Met) c.1567C>A (p.Leu523Met) c.*77C>A (n.*77C>A) c.1837C>A (p.Leu613Met) c.1312C>A (p.Leu438Met) c.1555C>A (p.Leu519Met) c.*87C>A (n.*87C>A) c.1798C>A (p.Leu600Met) c.1846C>A (p.Leu616Met) c.1843C>A (p.Leu615Met) c.1810C>A (p.Leu604Met) | dbSNP |
3 | g.189894308C>G | CA355751333 | TP63 | c.1849C>G (p.Leu617Val) c.1567C>G (p.Leu523Val) c.*77C>G (n.*77C>G) c.1837C>G (p.Leu613Val) c.1312C>G (p.Leu438Val) c.1555C>G (p.Leu519Val) c.*87C>G (n.*87C>G) c.1798C>G (p.Leu600Val) c.1846C>G (p.Leu616Val) c.1843C>G (p.Leu615Val) c.1810C>G (p.Leu604Val) | dbSNP |
3 | g.189894308C>T | CA437637081 | TP63 | c.1849C>T (p.Leu617=) c.1567C>T (p.Leu523=) c.*77C>T (n.*77C>T) c.1837C>T (p.Leu613=) c.1312C>T (p.Leu438=) c.1555C>T (p.Leu519=) c.*87C>T (n.*87C>T) c.1798C>T (p.Leu600=) c.1846C>T (p.Leu616=) c.1843C>T (p.Leu615=) c.1810C>T (p.Leu604=) | dbSNP |
3 | g.189894309T>A | CA355751334 | TP63 | c.1850T>A (p.Leu617Gln) c.1568T>A (p.Leu523Gln) c.*78T>A (n.*78T>A) c.1838T>A (p.Leu613Gln) c.1313T>A (p.Leu438Gln) c.1556T>A (p.Leu519Gln) c.*88T>A (n.*88T>A) c.1799T>A (p.Leu600Gln) c.1847T>A (p.Leu616Gln) c.1844T>A (p.Leu615Gln) c.1811T>A (p.Leu604Gln) | |
3 | g.189894309T>C | CA355751335 | TP63 | c.1850T>C (p.Leu617Pro) c.1568T>C (p.Leu523Pro) c.*78T>C (n.*78T>C) c.1838T>C (p.Leu613Pro) c.1313T>C (p.Leu438Pro) c.1556T>C (p.Leu519Pro) c.*88T>C (n.*88T>C) c.1799T>C (p.Leu600Pro) c.1847T>C (p.Leu616Pro) c.1844T>C (p.Leu615Pro) c.1811T>C (p.Leu604Pro) | |
3 | g.189894309T>G | CA355751336 | TP63 | c.1850T>G (p.Leu617Arg) c.1568T>G (p.Leu523Arg) c.*78T>G (n.*78T>G) c.1838T>G (p.Leu613Arg) c.1313T>G (p.Leu438Arg) c.1556T>G (p.Leu519Arg) c.*88T>G (n.*88T>G) c.1799T>G (p.Leu600Arg) c.1847T>G (p.Leu616Arg) c.1844T>G (p.Leu615Arg) c.1811T>G (p.Leu604Arg) | |
3 | g.189894310G>A | CA2752587 | TP63 | c.1851G>A (p.Leu617=) c.1569G>A (p.Leu523=) c.*79G>A (n.*79G>A) c.1839G>A (p.Leu613=) c.1314G>A (p.Leu438=) c.1557G>A (p.Leu519=) c.*89G>A (n.*89G>A) c.1800G>A (p.Leu600=) c.1848G>A (p.Leu616=) c.1845G>A (p.Leu615=) c.1812G>A (p.Leu604=) | dbSNP ExAC gnomAD v2 |
3 | g.189894310G>C | CA437637085 | TP63 | c.1851G>C (p.Leu617=) c.1569G>C (p.Leu523=) c.*79G>C (n.*79G>C) c.1839G>C (p.Leu613=) c.1314G>C (p.Leu438=) c.1557G>C (p.Leu519=) c.*89G>C (n.*89G>C) c.1800G>C (p.Leu600=) c.1848G>C (p.Leu616=) c.1845G>C (p.Leu615=) c.1812G>C (p.Leu604=) | dbSNP |
3 | g.189894310G= | CA1428535235 | TP63 | c.1851G= (p.Leu617=) c.1569G= (p.Leu523=) c.*79G= (n.*79G=) c.1839G= (p.Leu613=) c.1314G= (p.Leu438=) c.1557G= (p.Leu519=) c.*89G= (n.*89G=) c.1800G= (p.Leu600=) c.1848G= (p.Leu616=) c.1845G= (p.Leu615=) c.1812G= (p.Leu604=) | |
3 | g.189894310G>T | CA437637086 | TP63 | c.1851G>T (p.Leu617=) c.1569G>T (p.Leu523=) c.*79G>T (n.*79G>T) c.1839G>T (p.Leu613=) c.1314G>T (p.Leu438=) c.1557G>T (p.Leu519=) c.*89G>T (n.*89G>T) c.1800G>T (p.Leu600=) c.1848G>T (p.Leu616=) c.1845G>T (p.Leu615=) c.1812G>T (p.Leu604=) | dbSNP |
3 | g.189894310_189894311delinsTT | CA2697557022 | TP63 | c.1851_1852delinsTT (p.Arg618Trp) c.1569_1570delinsTT (p.Arg524Trp) c.*79_*80delinsTT (n.*79_*80delinsTT) c.1839_1840delinsTT (p.Arg614Trp) c.1314_1315delinsTT (p.Arg439Trp) c.1557_1558delinsTT (p.Arg520Trp) c.*89_*90delinsTT (n.*89_*90delinsTT) c.1800_1801delinsTT (p.Arg601Trp) c.1848_1849delinsTT (p.Arg617Trp) c.1845_1846delinsTT (p.Arg616Trp) c.1812_1813delinsTT (p.Arg605Trp) | ClinVar |
3 | g.189894311C>A | CA437637087 | TP63 | c.1852C>A (p.Arg618=) c.1570C>A (p.Arg524=) c.*80C>A (n.*80C>A) c.1840C>A (p.Arg614=) c.1315C>A (p.Arg439=) c.1558C>A (p.Arg520=) c.*90C>A (n.*90C>A) c.1801C>A (p.Arg601=) c.1849C>A (p.Arg617=) c.1846C>A (p.Arg616=) c.1813C>A (p.Arg605=) | ClinVar dbSNP gnomAD v4 |
3 | g.189894311C= | CA1428535236 | TP63 | c.1852C= (p.Arg618=) c.1570C= (p.Arg524=) c.*80C= (n.*80C=) c.1840C= (p.Arg614=) c.1315C= (p.Arg439=) c.1558C= (p.Arg520=) c.*90C= (n.*90C=) c.1801C= (p.Arg601=) c.1849C= (p.Arg617=) c.1846C= (p.Arg616=) c.1813C= (p.Arg605=) | |
3 | g.189894311C>G | CA355751337 | TP63 | c.1852C>G (p.Arg618Gly) c.1570C>G (p.Arg524Gly) c.*80C>G (n.*80C>G) c.1840C>G (p.Arg614Gly) c.1315C>G (p.Arg439Gly) c.1558C>G (p.Arg520Gly) c.*90C>G (n.*90C>G) c.1801C>G (p.Arg601Gly) c.1849C>G (p.Arg617Gly) c.1846C>G (p.Arg616Gly) c.1813C>G (p.Arg605Gly) | dbSNP gnomAD v4 |
3 | g.189894311C>T | CA355751338 | TP63 | c.1852C>T (p.Arg618Trp) c.1570C>T (p.Arg524Trp) c.*80C>T (n.*80C>T) c.1840C>T (p.Arg614Trp) c.1315C>T (p.Arg439Trp) c.1558C>T (p.Arg520Trp) c.*90C>T (n.*90C>T) c.1801C>T (p.Arg601Trp) c.1849C>T (p.Arg617Trp) c.1846C>T (p.Arg616Trp) c.1813C>T (p.Arg605Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894312G>A | CA2752588 | TP63 | c.1853G>A (p.Arg618Gln) c.1571G>A (p.Arg524Gln) c.*81G>A (n.*81G>A) c.1841G>A (p.Arg614Gln) c.1316G>A (p.Arg439Gln) c.1559G>A (p.Arg520Gln) c.*91G>A (n.*91G>A) c.1802G>A (p.Arg601Gln) c.1850G>A (p.Arg617Gln) c.1847G>A (p.Arg616Gln) c.1814G>A (p.Arg605Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.189894312G>C | CA355751339 | TP63 | c.1853G>C (p.Arg618Pro) c.1571G>C (p.Arg524Pro) c.*81G>C (n.*81G>C) c.1841G>C (p.Arg614Pro) c.1316G>C (p.Arg439Pro) c.1559G>C (p.Arg520Pro) c.*91G>C (n.*91G>C) c.1802G>C (p.Arg601Pro) c.1850G>C (p.Arg617Pro) c.1847G>C (p.Arg616Pro) c.1814G>C (p.Arg605Pro) | dbSNP |
3 | g.189894312G= | CA1428535237 | TP63 | c.1853G= (p.Arg618=) c.1571G= (p.Arg524=) c.*81G= (n.*81G=) c.1841G= (p.Arg614=) c.1316G= (p.Arg439=) c.1559G= (p.Arg520=) c.*91G= (n.*91G=) c.1802G= (p.Arg601=) c.1850G= (p.Arg617=) c.1847G= (p.Arg616=) c.1814G= (p.Arg605=) | |
3 | g.189894312G>T | CA355751340 | TP63 | c.1853G>T (p.Arg618Leu) c.1571G>T (p.Arg524Leu) c.*81G>T (n.*81G>T) c.1841G>T (p.Arg614Leu) c.1316G>T (p.Arg439Leu) c.1559G>T (p.Arg520Leu) c.*91G>T (n.*91G>T) c.1802G>T (p.Arg601Leu) c.1850G>T (p.Arg617Leu) c.1847G>T (p.Arg616Leu) c.1814G>T (p.Arg605Leu) | dbSNP |
3 | g.189894313G>A | CA437637089 | TP63 | c.1854G>A (p.Arg618=) c.1572G>A (p.Arg524=) c.*82G>A (n.*82G>A) c.1842G>A (p.Arg614=) c.1317G>A (p.Arg439=) c.1560G>A (p.Arg520=) c.*92G>A (n.*92G>A) c.1803G>A (p.Arg601=) c.1851G>A (p.Arg617=) c.1848G>A (p.Arg616=) c.1815G>A (p.Arg605=) | dbSNP gnomAD v4 |
3 | g.189894313G>C | CA437637091 | TP63 | c.1854G>C (p.Arg618=) c.1572G>C (p.Arg524=) c.*82G>C (n.*82G>C) c.1842G>C (p.Arg614=) c.1317G>C (p.Arg439=) c.1560G>C (p.Arg520=) c.*92G>C (n.*92G>C) c.1803G>C (p.Arg601=) c.1851G>C (p.Arg617=) c.1848G>C (p.Arg616=) c.1815G>C (p.Arg605=) | dbSNP |
3 | g.189894313G>T | CA437637092 | TP63 | c.1854G>T (p.Arg618=) c.1572G>T (p.Arg524=) c.*82G>T (n.*82G>T) c.1842G>T (p.Arg614=) c.1317G>T (p.Arg439=) c.1560G>T (p.Arg520=) c.*92G>T (n.*92G>T) c.1803G>T (p.Arg601=) c.1851G>T (p.Arg617=) c.1848G>T (p.Arg616=) c.1815G>T (p.Arg605=) | dbSNP |
3 | g.189894314A>C | CA355751341 | TP63 | c.1855A>C (p.Thr619Pro) c.1573A>C (p.Thr525Pro) c.*83A>C (n.*83A>C) c.1843A>C (p.Thr615Pro) c.1318A>C (p.Thr440Pro) c.1561A>C (p.Thr521Pro) c.*93A>C (n.*93A>C) c.1804A>C (p.Thr602Pro) c.1852A>C (p.Thr618Pro) c.1849A>C (p.Thr617Pro) c.1816A>C (p.Thr606Pro) | |
3 | g.189894314A>G | CA355751342 | TP63 | c.1855A>G (p.Thr619Ala) c.1573A>G (p.Thr525Ala) c.*83A>G (n.*83A>G) c.1843A>G (p.Thr615Ala) c.1318A>G (p.Thr440Ala) c.1561A>G (p.Thr521Ala) c.*93A>G (n.*93A>G) c.1804A>G (p.Thr602Ala) c.1852A>G (p.Thr618Ala) c.1849A>G (p.Thr617Ala) c.1816A>G (p.Thr606Ala) | |
3 | g.189894314A>T | CA355751343 | TP63 | c.1855A>T (p.Thr619Ser) c.1573A>T (p.Thr525Ser) c.*83A>T (n.*83A>T) c.1843A>T (p.Thr615Ser) c.1318A>T (p.Thr440Ser) c.1561A>T (p.Thr521Ser) c.*93A>T (n.*93A>T) c.1804A>T (p.Thr602Ser) c.1852A>T (p.Thr618Ser) c.1849A>T (p.Thr617Ser) c.1816A>T (p.Thr606Ser) | |
3 | g.189894315C>A | CA355751344 | TP63 | c.1856C>A (p.Thr619Asn) c.1574C>A (p.Thr525Asn) c.*84C>A (n.*84C>A) c.1844C>A (p.Thr615Asn) c.1319C>A (p.Thr440Asn) c.1562C>A (p.Thr521Asn) c.*94C>A (n.*94C>A) c.1805C>A (p.Thr602Asn) c.1853C>A (p.Thr618Asn) c.1850C>A (p.Thr617Asn) c.1817C>A (p.Thr606Asn) | |
3 | g.189894315C>G | CA355751345 | TP63 | c.1856C>G (p.Thr619Ser) c.1574C>G (p.Thr525Ser) c.*84C>G (n.*84C>G) c.1844C>G (p.Thr615Ser) c.1319C>G (p.Thr440Ser) c.1562C>G (p.Thr521Ser) c.*94C>G (n.*94C>G) c.1805C>G (p.Thr602Ser) c.1853C>G (p.Thr618Ser) c.1850C>G (p.Thr617Ser) c.1817C>G (p.Thr606Ser) | dbSNP |
3 | g.189894315C>T | CA355751346 | TP63 | c.1856C>T (p.Thr619Ile) c.1574C>T (p.Thr525Ile) c.*84C>T (n.*84C>T) c.1844C>T (p.Thr615Ile) c.1319C>T (p.Thr440Ile) c.1562C>T (p.Thr521Ile) c.*94C>T (n.*94C>T) c.1805C>T (p.Thr602Ile) c.1853C>T (p.Thr618Ile) c.1850C>T (p.Thr617Ile) c.1817C>T (p.Thr606Ile) | dbSNP |
3 | g.189894318del | CA2586973406 | TP63 | c.1859del (p.Pro620GlnfsTer?) c.1577del (p.Pro526GlnfsTer?) c.*87del (n.*87del) c.1847del (p.Pro616GlnfsTer?) c.1322del (p.Pro441GlnfsTer?) c.1565del (p.Pro522GlnfsTer?) c.*97del (n.*97del) c.1808del (p.Pro603GlnfsTer?) c.1856del (p.Pro619GlnfsTer?) c.1853del (p.Pro618GlnfsTer?) c.1820del (p.Pro607GlnfsTer?) | |
3 | g.189894316C>A | CA437637095 | TP63 | c.1857C>A (p.Thr619=) c.1575C>A (p.Thr525=) c.*85C>A (n.*85C>A) c.1845C>A (p.Thr615=) c.1320C>A (p.Thr440=) c.1563C>A (p.Thr521=) c.*95C>A (n.*95C>A) c.1806C>A (p.Thr602=) c.1854C>A (p.Thr618=) c.1851C>A (p.Thr617=) c.1818C>A (p.Thr606=) | dbSNP |
3 | g.189894316C= | CA1428535238 | TP63 | c.1857C= (p.Thr619=) c.1575C= (p.Thr525=) c.*85C= (n.*85C=) c.1845C= (p.Thr615=) c.1320C= (p.Thr440=) c.1563C= (p.Thr521=) c.*95C= (n.*95C=) c.1806C= (p.Thr602=) c.1854C= (p.Thr618=) c.1851C= (p.Thr617=) c.1818C= (p.Thr606=) | |
3 | g.189894316C>G | CA437637094 | TP63 | c.1857C>G (p.Thr619=) c.1575C>G (p.Thr525=) c.*85C>G (n.*85C>G) c.1845C>G (p.Thr615=) c.1320C>G (p.Thr440=) c.1563C>G (p.Thr521=) c.*95C>G (n.*95C>G) c.1806C>G (p.Thr602=) c.1854C>G (p.Thr618=) c.1851C>G (p.Thr617=) c.1818C>G (p.Thr606=) | |
3 | g.189894316C>T | CA437637096 | TP63 | c.1857C>T (p.Thr619=) c.1575C>T (p.Thr525=) c.*85C>T (n.*85C>T) c.1845C>T (p.Thr615=) c.1320C>T (p.Thr440=) c.1563C>T (p.Thr521=) c.*95C>T (n.*95C>T) c.1806C>T (p.Thr602=) c.1854C>T (p.Thr618=) c.1851C>T (p.Thr617=) c.1818C>T (p.Thr606=) | dbSNP gnomAD v4 |
3 | g.189894317C>A | CA355751347 | TP63 | c.1858C>A (p.Pro620Thr) c.1576C>A (p.Pro526Thr) c.*86C>A (n.*86C>A) c.1846C>A (p.Pro616Thr) c.1321C>A (p.Pro441Thr) c.1564C>A (p.Pro522Thr) c.*96C>A (n.*96C>A) c.1807C>A (p.Pro603Thr) c.1855C>A (p.Pro619Thr) c.1852C>A (p.Pro618Thr) c.1819C>A (p.Pro607Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.189894317C= | CA1428535239 | TP63 | c.1858C= (p.Pro620=) c.1576C= (p.Pro526=) c.*86C= (n.*86C=) c.1846C= (p.Pro616=) c.1321C= (p.Pro441=) c.1564C= (p.Pro522=) c.*96C= (n.*96C=) c.1807C= (p.Pro603=) c.1855C= (p.Pro619=) c.1852C= (p.Pro618=) c.1819C= (p.Pro607=) | |
3 | g.189894317C>G | CA355751348 | TP63 | c.1858C>G (p.Pro620Ala) c.1576C>G (p.Pro526Ala) c.*86C>G (n.*86C>G) c.1846C>G (p.Pro616Ala) c.1321C>G (p.Pro441Ala) c.1564C>G (p.Pro522Ala) c.*96C>G (n.*96C>G) c.1807C>G (p.Pro603Ala) c.1855C>G (p.Pro619Ala) c.1852C>G (p.Pro618Ala) c.1819C>G (p.Pro607Ala) | dbSNP |
3 | g.189894317C>T | CA355751349 | TP63 | c.1858C>T (p.Pro620Ser) c.1576C>T (p.Pro526Ser) c.*86C>T (n.*86C>T) c.1846C>T (p.Pro616Ser) c.1321C>T (p.Pro441Ser) c.1564C>T (p.Pro522Ser) c.*96C>T (n.*96C>T) c.1807C>T (p.Pro603Ser) c.1855C>T (p.Pro619Ser) c.1852C>T (p.Pro618Ser) c.1819C>T (p.Pro607Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.189894318C>A | CA355751350 | TP63 | c.1859C>A (p.Pro620Gln) c.1577C>A (p.Pro526Gln) c.*87C>A (n.*87C>A) c.1847C>A (p.Pro616Gln) c.1322C>A (p.Pro441Gln) c.1565C>A (p.Pro522Gln) c.*97C>A (n.*97C>A) c.1808C>A (p.Pro603Gln) c.1856C>A (p.Pro619Gln) c.1853C>A (p.Pro618Gln) c.1820C>A (p.Pro607Gln) | dbSNP |
3 | g.189894318C>G | CA355751351 | TP63 | c.1859C>G (p.Pro620Arg) c.1577C>G (p.Pro526Arg) c.*87C>G (n.*87C>G) c.1847C>G (p.Pro616Arg) c.1322C>G (p.Pro441Arg) c.1565C>G (p.Pro522Arg) c.*97C>G (n.*97C>G) c.1808C>G (p.Pro603Arg) c.1856C>G (p.Pro619Arg) c.1853C>G (p.Pro618Arg) c.1820C>G (p.Pro607Arg) | dbSNP |
3 | g.189894318C>T | CA355751352 | TP63 | c.1859C>T (p.Pro620Leu) c.1577C>T (p.Pro526Leu) c.*87C>T (n.*87C>T) c.1847C>T (p.Pro616Leu) c.1322C>T (p.Pro441Leu) c.1565C>T (p.Pro522Leu) c.*97C>T (n.*97C>T) c.1808C>T (p.Pro603Leu) c.1856C>T (p.Pro619Leu) c.1853C>T (p.Pro618Leu) c.1820C>T (p.Pro607Leu) | dbSNP |
3 | g.189894318_189894319delinsCA | CA1428535240 | TP63 | c.1859_1860delinsCA (p.Pro620=) c.1577_1578delinsCA (p.Pro526=) c.*87_*88delinsCA (n.*87_*88delinsCA) c.1847_1848delinsCA (p.Pro616=) c.1322_1323delinsCA (p.Pro441=) c.1565_1566delinsCA (p.Pro522=) c.*97_*98delinsCA (n.*97_*98delinsCA) c.1808_1809delinsCA (p.Pro603=) c.1856_1857delinsCA (p.Pro619=) c.1853_1854delinsCA (p.Pro618=) c.1820_1821delinsCA (p.Pro607=) | |
3 | g.189894319A= | CA1428535242 | TP63 | c.1860A= (p.Pro620=) c.1578A= (p.Pro526=) c.*88A= (n.*88A=) c.1848A= (p.Pro616=) c.1323A= (p.Pro441=) c.1566A= (p.Pro522=) c.*98A= (n.*98A=) c.1809A= (p.Pro603=) c.1857A= (p.Pro619=) c.1854A= (p.Pro618=) c.1821A= (p.Pro607=) | |
3 | g.189894319A>C | CA437637101 | TP63 | c.1860A>C (p.Pro620=) c.1578A>C (p.Pro526=) c.*88A>C (n.*88A>C) c.1848A>C (p.Pro616=) c.1323A>C (p.Pro441=) c.1566A>C (p.Pro522=) c.*98A>C (n.*98A>C) c.1809A>C (p.Pro603=) c.1857A>C (p.Pro619=) c.1854A>C (p.Pro618=) c.1821A>C (p.Pro607=) | |
3 | g.189894319A>G | CA437637102 | TP63 | c.1860A>G (p.Pro620=) c.1578A>G (p.Pro526=) c.*88A>G (n.*88A>G) c.1848A>G (p.Pro616=) c.1323A>G (p.Pro441=) c.1566A>G (p.Pro522=) c.*98A>G (n.*98A>G) c.1809A>G (p.Pro603=) c.1857A>G (p.Pro619=) c.1854A>G (p.Pro618=) c.1821A>G (p.Pro607=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.189894319A>T | CA437637104 | TP63 | c.1860A>T (p.Pro620=) c.1578A>T (p.Pro526=) c.*88A>T (n.*88A>T) c.1848A>T (p.Pro616=) c.1323A>T (p.Pro441=) c.1566A>T (p.Pro522=) c.*98A>T (n.*98A>T) c.1809A>T (p.Pro603=) c.1857A>T (p.Pro619=) c.1854A>T (p.Pro618=) c.1821A>T (p.Pro607=) | dbSNP |
3 | g.189894319_189894320del | CA2586973407 | TP63 | c.1860_1861del (p.Ser621GlnfsTer11) c.1578_1579del (p.Ser527GlnfsTer11) c.*88_*89del (n.*88_*89del) c.1848_1849del (p.Ser617GlnfsTer11) c.1323_1324del (p.Ser442GlnfsTer11) c.1566_1567del (p.Ser523GlnfsTer11) c.*98_*99del (n.*98_*99del) c.1809_1810del (p.Ser604GlnfsTer11) c.1857_1858del (p.Ser620GlnfsTer11) c.1854_1855del (p.Ser619GlnfsTer11) c.1821_1822del (p.Ser608GlnfsTer11) | |
3 | g.189894320del | CA1428535241 | TP63 | c.1861del (p.Ser621AlafsTer?) c.1579del (p.Ser527AlafsTer?) c.*89del (n.*89del) c.1849del (p.Ser617AlafsTer?) c.1324del (p.Ser442AlafsTer?) c.1567del (p.Ser523AlafsTer?) c.*99del (n.*99del) c.1810del (p.Ser604AlafsTer?) c.1858del (p.Ser620AlafsTer?) c.1855del (p.Ser619AlafsTer?) c.1822del (p.Ser608AlafsTer?) | ClinVar dbSNP |
3 | g.189894320A= | CA1428535243 | TP63 | c.1861A= (p.Ser621=) c.1579A= (p.Ser527=) c.*89A= (n.*89A=) c.1849A= (p.Ser617=) c.1324A= (p.Ser442=) c.1567A= (p.Ser523=) c.*99A= (n.*99A=) c.1810A= (p.Ser604=) c.1858A= (p.Ser620=) c.1855A= (p.Ser619=) c.1822A= (p.Ser608=) | |
3 | g.189894320A>C | CA355751355 | TP63 | c.1861A>C (p.Ser621Arg) c.1579A>C (p.Ser527Arg) c.*89A>C (n.*89A>C) c.1849A>C (p.Ser617Arg) c.1324A>C (p.Ser442Arg) c.1567A>C (p.Ser523Arg) c.*99A>C (n.*99A>C) c.1810A>C (p.Ser604Arg) c.1858A>C (p.Ser620Arg) c.1855A>C (p.Ser619Arg) c.1822A>C (p.Ser608Arg) | |
3 | g.189894320A>G | CA355751354 | TP63 | c.1861A>G (p.Ser621Gly) c.1579A>G (p.Ser527Gly) c.*89A>G (n.*89A>G) c.1849A>G (p.Ser617Gly) c.1324A>G (p.Ser442Gly) c.1567A>G (p.Ser523Gly) c.*99A>G (n.*99A>G) c.1810A>G (p.Ser604Gly) c.1858A>G (p.Ser620Gly) c.1855A>G (p.Ser619Gly) c.1822A>G (p.Ser608Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.189894320A>T | CA355751353 | TP63 | c.1861A>T (p.Ser621Cys) c.1579A>T (p.Ser527Cys) c.*89A>T (n.*89A>T) c.1849A>T (p.Ser617Cys) c.1324A>T (p.Ser442Cys) c.1567A>T (p.Ser523Cys) c.*99A>T (n.*99A>T) c.1810A>T (p.Ser604Cys) c.1858A>T (p.Ser620Cys) c.1855A>T (p.Ser619Cys) c.1822A>T (p.Ser608Cys) |