WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.189894205G>A | CA355751094 | TP63 | c.1747-1G>A (n.1747-1G>A) c.1465-1G>A (n.1465-1G>A) c.1508-1G>A (n.1508-1G>A) c.1653-1G>A (n.1653-1G>A) c.1226-1G>A (n.1226-1G>A) c.1371-1G>A (n.1371-1G>A) c.1735-1G>A (n.1735-1G>A) c.1210-1G>A (n.1210-1G>A) c.1453-1G>A (n.1453-1G>A) c.1696-1G>A (n.1696-1G>A) c.1744-1G>A (n.1744-1G>A) c.1741-1G>A (n.1741-1G>A) c.1708-1G>A (n.1708-1G>A) c.1214-1G>A (n.1214-1G>A) c.959-1G>A (n.959-1G>A) | dbSNP COSMIC COSMIC |
| 3 | g.189894205G>C | CA89713231 | TP63 | c.1747-1G>C (n.1747-1G>C) c.1465-1G>C (n.1465-1G>C) c.1508-1G>C (n.1508-1G>C) c.1653-1G>C (n.1653-1G>C) c.1226-1G>C (n.1226-1G>C) c.1371-1G>C (n.1371-1G>C) c.1735-1G>C (n.1735-1G>C) c.1210-1G>C (n.1210-1G>C) c.1453-1G>C (n.1453-1G>C) c.1696-1G>C (n.1696-1G>C) c.1744-1G>C (n.1744-1G>C) c.1741-1G>C (n.1741-1G>C) c.1708-1G>C (n.1708-1G>C) c.1214-1G>C (n.1214-1G>C) c.959-1G>C (n.959-1G>C) | dbSNP |
| 3 | g.189894205G= | CA1428535192 | TP63 | c.1747-1G= (n.1747-1G=) c.1465-1G= (n.1465-1G=) c.1508-1G= (n.1508-1G=) c.1653-1G= (n.1653-1G=) c.1226-1G= (n.1226-1G=) c.1371-1G= (n.1371-1G=) c.1735-1G= (n.1735-1G=) c.1210-1G= (n.1210-1G=) c.1453-1G= (n.1453-1G=) c.1696-1G= (n.1696-1G=) c.1744-1G= (n.1744-1G=) c.1741-1G= (n.1741-1G=) c.1708-1G= (n.1708-1G=) c.1214-1G= (n.1214-1G=) c.959-1G= (n.959-1G=) | |
| 3 | g.189894205G>T | CA89713232 | TP63 | c.1747-1G>T (n.1747-1G>T) c.1465-1G>T (n.1465-1G>T) c.1508-1G>T (n.1508-1G>T) c.1653-1G>T (n.1653-1G>T) c.1226-1G>T (n.1226-1G>T) c.1371-1G>T (n.1371-1G>T) c.1735-1G>T (n.1735-1G>T) c.1210-1G>T (n.1210-1G>T) c.1453-1G>T (n.1453-1G>T) c.1696-1G>T (n.1696-1G>T) c.1744-1G>T (n.1744-1G>T) c.1741-1G>T (n.1741-1G>T) c.1708-1G>T (n.1708-1G>T) c.1214-1G>T (n.1214-1G>T) c.959-1G>T (n.959-1G>T) | dbSNP |
| 3 | g.189894206G>A | CA355751097 | TP63 | c.1747G>A (p.Asp583Asn) c.1465G>A (p.Asp489Asn) c.1508G>A (p.Arg503Lys) c.1653G>A (p.Arg551=) c.1226G>A (p.Arg409Lys) c.1371G>A (p.Arg457=) c.1735G>A (p.Asp579Asn) c.1210G>A (p.Asp404Asn) c.1453G>A (p.Asp485Asn) c.1696G>A (p.Asp566Asn) c.1744G>A (p.Asp582Asn) c.1741G>A (p.Asp581Asn) c.1708G>A (p.Asp570Asn) c.1214G>A (p.Arg405Lys) c.959G>A (p.Arg320Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.189894206G>C | CA355751096 | TP63 | c.1747G>C (p.Asp583His) c.1465G>C (p.Asp489His) c.1508G>C (p.Arg503Thr) c.1653G>C (p.Arg551Ser) c.1226G>C (p.Arg409Thr) c.1371G>C (p.Arg457Ser) c.1735G>C (p.Asp579His) c.1210G>C (p.Asp404His) c.1453G>C (p.Asp485His) c.1696G>C (p.Asp566His) c.1744G>C (p.Asp582His) c.1741G>C (p.Asp581His) c.1708G>C (p.Asp570His) c.1214G>C (p.Arg405Thr) c.959G>C (p.Arg320Thr) | dbSNP |
| 3 | g.189894206G>T | CA355751095 | TP63 | c.1747G>T (p.Asp583Tyr) c.1465G>T (p.Asp489Tyr) c.1508G>T (p.Arg503Ile) c.1653G>T (p.Arg551Ser) c.1226G>T (p.Arg409Ile) c.1371G>T (p.Arg457Ser) c.1735G>T (p.Asp579Tyr) c.1210G>T (p.Asp404Tyr) c.1453G>T (p.Asp485Tyr) c.1696G>T (p.Asp566Tyr) c.1744G>T (p.Asp582Tyr) c.1741G>T (p.Asp581Tyr) c.1708G>T (p.Asp570Tyr) c.1214G>T (p.Arg405Ile) c.959G>T (p.Arg320Ile) | |
| 3 | g.189894207A= | CA1428535193 | TP63 | c.1748A= (p.Asp583=) c.1466A= (p.Asp489=) c.1509A= (p.Arg503=) c.1654A= (p.Ile552=) c.1227A= (p.Arg409=) c.1372A= (p.Ile458=) c.1736A= (p.Asp579=) c.1211A= (p.Asp404=) c.1454A= (p.Asp485=) c.1697A= (p.Asp566=) c.1745A= (p.Asp582=) c.1742A= (p.Asp581=) c.1709A= (p.Asp570=) c.1215A= (p.Arg405=) c.960A= (p.Arg320=) | |
| 3 | g.189894207A>C | CA355751098 | TP63 | c.1748A>C (p.Asp583Ala) c.1466A>C (p.Asp489Ala) c.1509A>C (p.Arg503Ser) c.1654A>C (p.Ile552Leu) c.1227A>C (p.Arg409Ser) c.1372A>C (p.Ile458Leu) c.1736A>C (p.Asp579Ala) c.1211A>C (p.Asp404Ala) c.1454A>C (p.Asp485Ala) c.1697A>C (p.Asp566Ala) c.1745A>C (p.Asp582Ala) c.1742A>C (p.Asp581Ala) c.1709A>C (p.Asp570Ala) c.1215A>C (p.Arg405Ser) c.960A>C (p.Arg320Ser) | |
| 3 | g.189894207A>G | CA355751100 | TP63 | c.1748A>G (p.Asp583Gly) c.1466A>G (p.Asp489Gly) c.1509A>G (p.Arg503=) c.1654A>G (p.Ile552Val) c.1227A>G (p.Arg409=) c.1372A>G (p.Ile458Val) c.1736A>G (p.Asp579Gly) c.1211A>G (p.Asp404Gly) c.1454A>G (p.Asp485Gly) c.1697A>G (p.Asp566Gly) c.1745A>G (p.Asp582Gly) c.1742A>G (p.Asp581Gly) c.1709A>G (p.Asp570Gly) c.1215A>G (p.Arg405=) c.960A>G (p.Arg320=) | |
| 3 | g.189894207A>T | CA355751099 | TP63 | c.1748A>T (p.Asp583Val) c.1466A>T (p.Asp489Val) c.1509A>T (p.Arg503Ser) c.1654A>T (p.Ile552Phe) c.1227A>T (p.Arg409Ser) c.1372A>T (p.Ile458Phe) c.1736A>T (p.Asp579Val) c.1211A>T (p.Asp404Val) c.1454A>T (p.Asp485Val) c.1697A>T (p.Asp566Val) c.1745A>T (p.Asp582Val) c.1742A>T (p.Asp581Val) c.1709A>T (p.Asp570Val) c.1215A>T (p.Arg405Ser) c.960A>T (p.Arg320Ser) | ClinVar dbSNP COSMIC |
| 3 | g.189894208T>A | CA355751101 | TP63 | c.1749T>A (p.Asp583Glu) c.1467T>A (p.Asp489Glu) c.1510T>A (p.Ser504Thr) c.1655T>A (p.Ile552Asn) c.1228T>A (p.Ser410Thr) c.1373T>A (p.Ile458Asn) c.1737T>A (p.Asp579Glu) c.1212T>A (p.Asp404Glu) c.1455T>A (p.Asp485Glu) c.1698T>A (p.Asp566Glu) c.1746T>A (p.Asp582Glu) c.1743T>A (p.Asp581Glu) c.1710T>A (p.Asp570Glu) c.1216T>A (p.Ser406Thr) c.961T>A (p.Ser321Thr) | dbSNP |
| 3 | g.189894208T>C | CA355751103 | TP63 | c.1749T>C (p.Asp583=) c.1467T>C (p.Asp489=) c.1510T>C (p.Ser504Pro) c.1655T>C (p.Ile552Thr) c.1228T>C (p.Ser410Pro) c.1373T>C (p.Ile458Thr) c.1737T>C (p.Asp579=) c.1212T>C (p.Asp404=) c.1455T>C (p.Asp485=) c.1698T>C (p.Asp566=) c.1746T>C (p.Asp582=) c.1743T>C (p.Asp581=) c.1710T>C (p.Asp570=) c.1216T>C (p.Ser406Pro) c.961T>C (p.Ser321Pro) | dbSNP |
| 3 | g.189894208T>G | CA355751102 | TP63 | c.1749T>G (p.Asp583Glu) c.1467T>G (p.Asp489Glu) c.1510T>G (p.Ser504Ala) c.1655T>G (p.Ile552Ser) c.1228T>G (p.Ser410Ala) c.1373T>G (p.Ile458Ser) c.1737T>G (p.Asp579Glu) c.1212T>G (p.Asp404Glu) c.1455T>G (p.Asp485Glu) c.1698T>G (p.Asp566Glu) c.1746T>G (p.Asp582Glu) c.1743T>G (p.Asp581Glu) c.1710T>G (p.Asp570Glu) c.1216T>G (p.Ser406Ala) c.961T>G (p.Ser321Ala) | |
| 3 | g.189894208T= | CA1428535194 | TP63 | c.1749T= (p.Asp583=) c.1467T= (p.Asp489=) c.1510T= (p.Ser504=) c.1655T= (p.Ile552=) c.1228T= (p.Ser410=) c.1373T= (p.Ile458=) c.1737T= (p.Asp579=) c.1212T= (p.Asp404=) c.1455T= (p.Asp485=) c.1698T= (p.Asp566=) c.1746T= (p.Asp582=) c.1743T= (p.Asp581=) c.1710T= (p.Asp570=) c.1216T= (p.Ser406=) c.961T= (p.Ser321=) | |
| 3 | g.189894209C>A | CA355751104 | TP63 | c.1750C>A (p.Leu584Met) c.1468C>A (p.Leu490Met) c.1511C>A (p.Ser504Tyr) c.1656C>A (p.Ile552=) c.1229C>A (p.Ser410Tyr) c.1374C>A (p.Ile458=) c.1738C>A (p.Leu580Met) c.1213C>A (p.Leu405Met) c.1456C>A (p.Leu486Met) c.1699C>A (p.Leu567Met) c.1747C>A (p.Leu583Met) c.1744C>A (p.Leu582Met) c.1711C>A (p.Leu571Met) c.1217C>A (p.Ser406Tyr) c.962C>A (p.Ser321Tyr) | dbSNP |
| 3 | g.189894209C>G | CA355751106 | TP63 | c.1750C>G (p.Leu584Val) c.1468C>G (p.Leu490Val) c.1511C>G (p.Ser504Cys) c.1656C>G (p.Ile552Met) c.1229C>G (p.Ser410Cys) c.1374C>G (p.Ile458Met) c.1738C>G (p.Leu580Val) c.1213C>G (p.Leu405Val) c.1456C>G (p.Leu486Val) c.1699C>G (p.Leu567Val) c.1747C>G (p.Leu583Val) c.1744C>G (p.Leu582Val) c.1711C>G (p.Leu571Val) c.1217C>G (p.Ser406Cys) c.962C>G (p.Ser321Cys) | dbSNP |
| 3 | g.189894209C>T | CA355751105 | TP63 | c.1750C>T (p.Leu584=) c.1468C>T (p.Leu490=) c.1511C>T (p.Ser504Phe) c.1656C>T (p.Ile552=) c.1229C>T (p.Ser410Phe) c.1374C>T (p.Ile458=) c.1738C>T (p.Leu580=) c.1213C>T (p.Leu405=) c.1456C>T (p.Leu486=) c.1699C>T (p.Leu567=) c.1747C>T (p.Leu583=) c.1744C>T (p.Leu582=) c.1711C>T (p.Leu571=) c.1217C>T (p.Ser406Phe) c.962C>T (p.Ser321Phe) | dbSNP |
| 3 | g.189894210T>A | CA355751107 | TP63 | c.1751T>A (p.Leu584Gln) c.1469T>A (p.Leu490Gln) c.1512T>A (p.Ser504=) c.1657T>A (p.Trp553Arg) c.1230T>A (p.Ser410=) c.1375T>A (p.Trp459Arg) c.1739T>A (p.Leu580Gln) c.1214T>A (p.Leu405Gln) c.1457T>A (p.Leu486Gln) c.1700T>A (p.Leu567Gln) c.1748T>A (p.Leu583Gln) c.1745T>A (p.Leu582Gln) c.1712T>A (p.Leu571Gln) c.1218T>A (p.Ser406=) c.963T>A (p.Ser321=) | |
| 3 | g.189894210T>C | CA355751108 | TP63 | c.1751T>C (p.Leu584Pro) c.1469T>C (p.Leu490Pro) c.1512T>C (p.Ser504=) c.1657T>C (p.Trp553Arg) c.1230T>C (p.Ser410=) c.1375T>C (p.Trp459Arg) c.1739T>C (p.Leu580Pro) c.1214T>C (p.Leu405Pro) c.1457T>C (p.Leu486Pro) c.1700T>C (p.Leu567Pro) c.1748T>C (p.Leu583Pro) c.1745T>C (p.Leu582Pro) c.1712T>C (p.Leu571Pro) c.1218T>C (p.Ser406=) c.963T>C (p.Ser321=) | |
| 3 | g.189894210T>G | CA355751109 | TP63 | c.1751T>G (p.Leu584Arg) c.1469T>G (p.Leu490Arg) c.1512T>G (p.Ser504=) c.1657T>G (p.Trp553Gly) c.1230T>G (p.Ser410=) c.1375T>G (p.Trp459Gly) c.1739T>G (p.Leu580Arg) c.1214T>G (p.Leu405Arg) c.1457T>G (p.Leu486Arg) c.1700T>G (p.Leu567Arg) c.1748T>G (p.Leu583Arg) c.1745T>G (p.Leu582Arg) c.1712T>G (p.Leu571Arg) c.1218T>G (p.Ser406=) c.963T>G (p.Ser321=) | |
| 3 | g.189894211G>A | CA355751110 | TP63 | c.1752G>A (p.Leu584=) c.1470G>A (p.Leu490=) c.1513G>A (p.Gly505Ser) c.1658G>A (p.Trp553Ter) c.1231G>A (p.Gly411Ser) c.1376G>A (p.Trp459Ter) c.1740G>A (p.Leu580=) c.1215G>A (p.Leu405=) c.1458G>A (p.Leu486=) c.1701G>A (p.Leu567=) c.1749G>A (p.Leu583=) c.1746G>A (p.Leu582=) c.1713G>A (p.Leu571=) c.1219G>A (p.Gly407Ser) c.964G>A (p.Gly322Ser) | dbSNP |
| 3 | g.189894211G>C | CA355751111 | TP63 | c.1752G>C (p.Leu584=) c.1470G>C (p.Leu490=) c.1513G>C (p.Gly505Arg) c.1658G>C (p.Trp553Ser) c.1231G>C (p.Gly411Arg) c.1376G>C (p.Trp459Ser) c.1740G>C (p.Leu580=) c.1215G>C (p.Leu405=) c.1458G>C (p.Leu486=) c.1701G>C (p.Leu567=) c.1749G>C (p.Leu583=) c.1746G>C (p.Leu582=) c.1713G>C (p.Leu571=) c.1219G>C (p.Gly407Arg) c.964G>C (p.Gly322Arg) | dbSNP |
| 3 | g.189894211G>T | CA355751112 | TP63 | c.1752G>T (p.Leu584=) c.1470G>T (p.Leu490=) c.1513G>T (p.Gly505Cys) c.1658G>T (p.Trp553Leu) c.1231G>T (p.Gly411Cys) c.1376G>T (p.Trp459Leu) c.1740G>T (p.Leu580=) c.1215G>T (p.Leu405=) c.1458G>T (p.Leu486=) c.1701G>T (p.Leu567=) c.1749G>T (p.Leu583=) c.1746G>T (p.Leu582=) c.1713G>T (p.Leu571=) c.1219G>T (p.Gly407Cys) c.964G>T (p.Gly322Cys) | |
| 3 | g.189894212G>A | CA355751113 | TP63 | c.1753G>A (p.Ala585Thr) c.1471G>A (p.Ala491Thr) c.1514G>A (p.Gly505Asp) c.1659G>A (p.Trp553Ter) c.1232G>A (p.Gly411Asp) c.1377G>A (p.Trp459Ter) c.1741G>A (p.Ala581Thr) c.1216G>A (p.Ala406Thr) c.1459G>A (p.Ala487Thr) c.1702G>A (p.Ala568Thr) c.1750G>A (p.Ala584Thr) c.1747G>A (p.Ala583Thr) c.1714G>A (p.Ala572Thr) c.1220G>A (p.Gly407Asp) c.965G>A (p.Gly322Asp) | dbSNP gnomAD v4 |
| 3 | g.189894212G>C | CA355751114 | TP63 | c.1753G>C (p.Ala585Pro) c.1471G>C (p.Ala491Pro) c.1514G>C (p.Gly505Ala) c.1659G>C (p.Trp553Cys) c.1232G>C (p.Gly411Ala) c.1377G>C (p.Trp459Cys) c.1741G>C (p.Ala581Pro) c.1216G>C (p.Ala406Pro) c.1459G>C (p.Ala487Pro) c.1702G>C (p.Ala568Pro) c.1750G>C (p.Ala584Pro) c.1747G>C (p.Ala583Pro) c.1714G>C (p.Ala572Pro) c.1220G>C (p.Gly407Ala) c.965G>C (p.Gly322Ala) | dbSNP |
| 3 | g.189894212G= | CA1428535195 | TP63 | c.1753G= (p.Ala585=) c.1471G= (p.Ala491=) c.1514G= (p.Gly505=) c.1659G= (p.Trp553=) c.1232G= (p.Gly411=) c.1377G= (p.Trp459=) c.1741G= (p.Ala581=) c.1216G= (p.Ala406=) c.1459G= (p.Ala487=) c.1702G= (p.Ala568=) c.1750G= (p.Ala584=) c.1747G= (p.Ala583=) c.1714G= (p.Ala572=) c.1220G= (p.Gly407=) c.965G= (p.Gly322=) | |
| 3 | g.189894212G>T | CA355751115 | TP63 | c.1753G>T (p.Ala585Ser) c.1471G>T (p.Ala491Ser) c.1514G>T (p.Gly505Val) c.1659G>T (p.Trp553Cys) c.1232G>T (p.Gly411Val) c.1377G>T (p.Trp459Cys) c.1741G>T (p.Ala581Ser) c.1216G>T (p.Ala406Ser) c.1459G>T (p.Ala487Ser) c.1702G>T (p.Ala568Ser) c.1750G>T (p.Ala584Ser) c.1747G>T (p.Ala583Ser) c.1714G>T (p.Ala572Ser) c.1220G>T (p.Gly407Val) c.965G>T (p.Gly322Val) | dbSNP |
| 3 | g.189894213C>A | CA355751116 | TP63 | c.1754C>A (p.Ala585Glu) c.1472C>A (p.Ala491Glu) c.1515C>A (p.Gly505=) c.1660C>A (p.Gln554Lys) c.1233C>A (p.Gly411=) c.1378C>A (p.Gln460Lys) c.1742C>A (p.Ala581Glu) c.1217C>A (p.Ala406Glu) c.1460C>A (p.Ala487Glu) c.1703C>A (p.Ala568Glu) c.1751C>A (p.Ala584Glu) c.1748C>A (p.Ala583Glu) c.1715C>A (p.Ala572Glu) c.1221C>A (p.Gly407=) c.966C>A (p.Gly322=) | dbSNP |
| 3 | g.189894213C>G | CA355751117 | TP63 | c.1754C>G (p.Ala585Gly) c.1472C>G (p.Ala491Gly) c.1515C>G (p.Gly505=) c.1660C>G (p.Gln554Glu) c.1233C>G (p.Gly411=) c.1378C>G (p.Gln460Glu) c.1742C>G (p.Ala581Gly) c.1217C>G (p.Ala406Gly) c.1460C>G (p.Ala487Gly) c.1703C>G (p.Ala568Gly) c.1751C>G (p.Ala584Gly) c.1748C>G (p.Ala583Gly) c.1715C>G (p.Ala572Gly) c.1221C>G (p.Gly407=) c.966C>G (p.Gly322=) | dbSNP |
| 3 | g.189894213C>T | CA355751118 | TP63 | c.1754C>T (p.Ala585Val) c.1472C>T (p.Ala491Val) c.1515C>T (p.Gly505=) c.1660C>T (p.Gln554Ter) c.1233C>T (p.Gly411=) c.1378C>T (p.Gln460Ter) c.1742C>T (p.Ala581Val) c.1217C>T (p.Ala406Val) c.1460C>T (p.Ala487Val) c.1703C>T (p.Ala568Val) c.1751C>T (p.Ala584Val) c.1748C>T (p.Ala583Val) c.1715C>T (p.Ala572Val) c.1221C>T (p.Gly407=) c.966C>T (p.Gly322=) | dbSNP gnomAD v4 |
| 3 | g.189894214A>C | CA355751119 | TP63 | c.1755A>C (p.Ala585=) c.1473A>C (p.Ala491=) c.1516A>C (p.Lys506Gln) c.1661A>C (p.Gln554Pro) c.1234A>C (p.Lys412Gln) c.1379A>C (p.Gln460Pro) c.1743A>C (p.Ala581=) c.1218A>C (p.Ala406=) c.1461A>C (p.Ala487=) c.1704A>C (p.Ala568=) c.1752A>C (p.Ala584=) c.1749A>C (p.Ala583=) c.1716A>C (p.Ala572=) c.1222A>C (p.Lys408Gln) c.967A>C (p.Lys323Gln) | |
| 3 | g.189894214A>G | CA355751121 | TP63 | c.1755A>G (p.Ala585=) c.1473A>G (p.Ala491=) c.1516A>G (p.Lys506Glu) c.1661A>G (p.Gln554Arg) c.1234A>G (p.Lys412Glu) c.1379A>G (p.Gln460Arg) c.1743A>G (p.Ala581=) c.1218A>G (p.Ala406=) c.1461A>G (p.Ala487=) c.1704A>G (p.Ala568=) c.1752A>G (p.Ala584=) c.1749A>G (p.Ala583=) c.1716A>G (p.Ala572=) c.1222A>G (p.Lys408Glu) c.967A>G (p.Lys323Glu) | gnomAD v4 |
| 3 | g.189894214A>T | CA355751120 | TP63 | c.1755A>T (p.Ala585=) c.1473A>T (p.Ala491=) c.1516A>T (p.Lys506Ter) c.1661A>T (p.Gln554Leu) c.1234A>T (p.Lys412Ter) c.1379A>T (p.Gln460Leu) c.1743A>T (p.Ala581=) c.1218A>T (p.Ala406=) c.1461A>T (p.Ala487=) c.1704A>T (p.Ala568=) c.1752A>T (p.Ala584=) c.1749A>T (p.Ala583=) c.1716A>T (p.Ala572=) c.1222A>T (p.Lys408Ter) c.967A>T (p.Lys323Ter) | |
| 3 | g.189894215A>C | CA355751122 | TP63 | c.1756A>C (p.Ser586Arg) c.1474A>C (p.Ser492Arg) c.1517A>C (p.Lys506Thr) c.1662A>C (p.Gln554His) c.1235A>C (p.Lys412Thr) c.1380A>C (p.Gln460His) c.1744A>C (p.Ser582Arg) c.1219A>C (p.Ser407Arg) c.1462A>C (p.Ser488Arg) c.1705A>C (p.Ser569Arg) c.1753A>C (p.Ser585Arg) c.1750A>C (p.Ser584Arg) c.1717A>C (p.Ser573Arg) c.1223A>C (p.Lys408Thr) c.968A>C (p.Lys323Thr) | |
| 3 | g.189894215A>G | CA355751123 | TP63 | c.1756A>G (p.Ser586Gly) c.1474A>G (p.Ser492Gly) c.1517A>G (p.Lys506Arg) c.1662A>G (p.Gln554=) c.1235A>G (p.Lys412Arg) c.1380A>G (p.Gln460=) c.1744A>G (p.Ser582Gly) c.1219A>G (p.Ser407Gly) c.1462A>G (p.Ser488Gly) c.1705A>G (p.Ser569Gly) c.1753A>G (p.Ser585Gly) c.1750A>G (p.Ser584Gly) c.1717A>G (p.Ser573Gly) c.1223A>G (p.Lys408Arg) c.968A>G (p.Lys323Arg) | |
| 3 | g.189894215A>T | CA355751124 | TP63 | c.1756A>T (p.Ser586Cys) c.1474A>T (p.Ser492Cys) c.1517A>T (p.Lys506Met) c.1662A>T (p.Gln554His) c.1235A>T (p.Lys412Met) c.1380A>T (p.Gln460His) c.1744A>T (p.Ser582Cys) c.1219A>T (p.Ser407Cys) c.1462A>T (p.Ser488Cys) c.1705A>T (p.Ser569Cys) c.1753A>T (p.Ser585Cys) c.1750A>T (p.Ser584Cys) c.1717A>T (p.Ser573Cys) c.1223A>T (p.Lys408Met) c.968A>T (p.Lys323Met) | |
| 3 | g.189894216G>A | CA355751125 | TP63 | c.1757G>A (p.Ser586Asn) c.1475G>A (p.Ser492Asn) c.1518G>A (p.Lys506=) c.1663G>A (p.Val555Ile) c.1236G>A (p.Lys412=) c.1381G>A (p.Val461Ile) c.1745G>A (p.Ser582Asn) c.1220G>A (p.Ser407Asn) c.1463G>A (p.Ser488Asn) c.1706G>A (p.Ser569Asn) c.1754G>A (p.Ser585Asn) c.1751G>A (p.Ser584Asn) c.1718G>A (p.Ser573Asn) c.1224G>A (p.Lys408=) c.969G>A (p.Lys323=) | dbSNP |
| 3 | g.189894216G>C | CA355751126 | TP63 | c.1757G>C (p.Ser586Thr) c.1475G>C (p.Ser492Thr) c.1518G>C (p.Lys506Asn) c.1663G>C (p.Val555Leu) c.1236G>C (p.Lys412Asn) c.1381G>C (p.Val461Leu) c.1745G>C (p.Ser582Thr) c.1220G>C (p.Ser407Thr) c.1463G>C (p.Ser488Thr) c.1706G>C (p.Ser569Thr) c.1754G>C (p.Ser585Thr) c.1751G>C (p.Ser584Thr) c.1718G>C (p.Ser573Thr) c.1224G>C (p.Lys408Asn) c.969G>C (p.Lys323Asn) | dbSNP |
| 3 | g.189894216G>T | CA355751127 | TP63 | c.1757G>T (p.Ser586Ile) c.1475G>T (p.Ser492Ile) c.1518G>T (p.Lys506Asn) c.1663G>T (p.Val555Phe) c.1236G>T (p.Lys412Asn) c.1381G>T (p.Val461Phe) c.1745G>T (p.Ser582Ile) c.1220G>T (p.Ser407Ile) c.1463G>T (p.Ser488Ile) c.1706G>T (p.Ser569Ile) c.1754G>T (p.Ser585Ile) c.1751G>T (p.Ser584Ile) c.1718G>T (p.Ser573Ile) c.1224G>T (p.Lys408Asn) c.969G>T (p.Lys323Asn) | gnomAD v4 |
| 3 | g.189894217T>A | CA355751128 | TP63 | c.1758T>A (p.Ser586Arg) c.1476T>A (p.Ser492Arg) c.1519T>A (p.Ser507Thr) c.1664T>A (p.Val555Asp) c.1237T>A (p.Ser413Thr) c.1382T>A (p.Val461Asp) c.1746T>A (p.Ser582Arg) c.1221T>A (p.Ser407Arg) c.1464T>A (p.Ser488Arg) c.1707T>A (p.Ser569Arg) c.1755T>A (p.Ser585Arg) c.1752T>A (p.Ser584Arg) c.1719T>A (p.Ser573Arg) c.1225T>A (p.Ser409Thr) c.970T>A (p.Ser324Thr) | dbSNP |
| 3 | g.189894217T>C | CA355751129 | TP63 | c.1758T>C (p.Ser586=) c.1476T>C (p.Ser492=) c.1519T>C (p.Ser507Pro) c.1664T>C (p.Val555Ala) c.1237T>C (p.Ser413Pro) c.1382T>C (p.Val461Ala) c.1746T>C (p.Ser582=) c.1221T>C (p.Ser407=) c.1464T>C (p.Ser488=) c.1707T>C (p.Ser569=) c.1755T>C (p.Ser585=) c.1752T>C (p.Ser584=) c.1719T>C (p.Ser573=) c.1225T>C (p.Ser409Pro) c.970T>C (p.Ser324Pro) | |
| 3 | g.189894217T>G | CA355751130 | TP63 | c.1758T>G (p.Ser586Arg) c.1476T>G (p.Ser492Arg) c.1519T>G (p.Ser507Ala) c.1664T>G (p.Val555Gly) c.1237T>G (p.Ser413Ala) c.1382T>G (p.Val461Gly) c.1746T>G (p.Ser582Arg) c.1221T>G (p.Ser407Arg) c.1464T>G (p.Ser488Arg) c.1707T>G (p.Ser569Arg) c.1755T>G (p.Ser585Arg) c.1752T>G (p.Ser584Arg) c.1719T>G (p.Ser573Arg) c.1225T>G (p.Ser409Ala) c.970T>G (p.Ser324Ala) | dbSNP |
| 3 | g.189894218C>A | CA355751132 | TP63 | c.1759C>A (p.Leu587Met) c.1477C>A (p.Leu493Met) c.1520C>A (p.Ser507Tyr) c.1665C>A (p.Val555=) c.1238C>A (p.Ser413Tyr) c.1383C>A (p.Val461=) c.1747C>A (p.Leu583Met) c.1222C>A (p.Leu408Met) c.1465C>A (p.Leu489Met) c.1708C>A (p.Leu570Met) c.1756C>A (p.Leu586Met) c.1753C>A (p.Leu585Met) c.1720C>A (p.Leu574Met) c.1226C>A (p.Ser409Tyr) c.971C>A (p.Ser324Tyr) | |
| 3 | g.189894218C>G | CA355751133 | TP63 | c.1759C>G (p.Leu587Val) c.1477C>G (p.Leu493Val) c.1520C>G (p.Ser507Cys) c.1665C>G (p.Val555=) c.1238C>G (p.Ser413Cys) c.1383C>G (p.Val461=) c.1747C>G (p.Leu583Val) c.1222C>G (p.Leu408Val) c.1465C>G (p.Leu489Val) c.1708C>G (p.Leu570Val) c.1756C>G (p.Leu586Val) c.1753C>G (p.Leu585Val) c.1720C>G (p.Leu574Val) c.1226C>G (p.Ser409Cys) c.971C>G (p.Ser324Cys) | dbSNP |
| 3 | g.189894218C>T | CA355751131 | TP63 | c.1759C>T (p.Leu587=) c.1477C>T (p.Leu493=) c.1520C>T (p.Ser507Phe) c.1665C>T (p.Val555=) c.1238C>T (p.Ser413Phe) c.1383C>T (p.Val461=) c.1747C>T (p.Leu583=) c.1222C>T (p.Leu408=) c.1465C>T (p.Leu489=) c.1708C>T (p.Leu570=) c.1756C>T (p.Leu586=) c.1753C>T (p.Leu585=) c.1720C>T (p.Leu574=) c.1226C>T (p.Ser409Phe) c.971C>T (p.Ser324Phe) | dbSNP |
| 3 | g.189894219T>A | CA355751134 | TP63 | c.1760T>A (p.Leu587Gln) c.1478T>A (p.Leu493Gln) c.1521T>A (p.Ser507=) c.1666T>A (p.Ter556Arg) c.1239T>A (p.Ser413=) c.1384T>A (p.Ter462Arg) c.1748T>A (p.Leu583Gln) c.1223T>A (p.Leu408Gln) c.1466T>A (p.Leu489Gln) c.1709T>A (p.Leu570Gln) c.1757T>A (p.Leu586Gln) c.1754T>A (p.Leu585Gln) c.1721T>A (p.Leu574Gln) c.1227T>A (p.Ser409=) c.972T>A (p.Ser324=) | |
| 3 | g.189894219T>C | CA355751135 | TP63 | c.1760T>C (p.Leu587Pro) c.1478T>C (p.Leu493Pro) c.1521T>C (p.Ser507=) c.1666T>C (p.Ter556Arg) c.1239T>C (p.Ser413=) c.1384T>C (p.Ter462Arg) c.1748T>C (p.Leu583Pro) c.1223T>C (p.Leu408Pro) c.1466T>C (p.Leu489Pro) c.1709T>C (p.Leu570Pro) c.1757T>C (p.Leu586Pro) c.1754T>C (p.Leu585Pro) c.1721T>C (p.Leu574Pro) c.1227T>C (p.Ser409=) c.972T>C (p.Ser324=) | dbSNP |
| 3 | g.189894219T>G | CA355751136 | TP63 | c.1760T>G (p.Leu587Arg) c.1478T>G (p.Leu493Arg) c.1521T>G (p.Ser507=) c.1666T>G (p.Ter556Gly) c.1239T>G (p.Ser413=) c.1384T>G (p.Ter462Gly) c.1748T>G (p.Leu583Arg) c.1223T>G (p.Leu408Arg) c.1466T>G (p.Leu489Arg) c.1709T>G (p.Leu570Arg) c.1757T>G (p.Leu586Arg) c.1754T>G (p.Leu585Arg) c.1721T>G (p.Leu574Arg) c.1227T>G (p.Ser409=) c.972T>G (p.Ser324=) | |
| 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 |