Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247425242T>A | CA345557831 | NLRP3 | c.1793T>A (p.Ile598Asn) c.1658T>A (p.Ile553Asn) c.1799T>A (p.Ile600Asn) n.1974T>A | |
1 | g.247425242T>C | CA345557832 | NLRP3 | c.1793T>C (p.Ile598Thr) c.1658T>C (p.Ile553Thr) c.1799T>C (p.Ile600Thr) n.1974T>C | |
1 | g.247425242T>G | CA345557833 | NLRP3 | c.1793T>G (p.Ile598Ser) c.1658T>G (p.Ile553Ser) c.1799T>G (p.Ile600Ser) n.1974T>G | |
1 | g.247425246_247425247del | CA2651421094 | NLRP3 | c.1797_1798del (p.Gln600AlafsTer11) c.1662_1663del (p.Gln555AlafsTer11) c.1803_1804del (p.Gln602AlafsTer11) n.1978_1979del | gnomAD v4 |
1 | g.247425243C>A | CA424581994 | NLRP3 | c.1794C>A (p.Ile598=) c.1659C>A (p.Ile553=) c.1800C>A (p.Ile600=) n.1975C>A | |
1 | g.247425243C= | CA1232098958 | NLRP3 | c.1794C= (p.Ile598=) c.1659C= (p.Ile553=) c.1800C= (p.Ile600=) n.1975C= | |
1 | g.247425243C>G | CA345557834 | NLRP3 | c.1794C>G (p.Ile598Met) c.1659C>G (p.Ile553Met) c.1800C>G (p.Ile600Met) n.1975C>G | dbSNP gnomAD v4 |
1 | g.247425243C>T | CA424581992 | NLRP3 | c.1794C>T (p.Ile598=) c.1659C>T (p.Ile553=) c.1800C>T (p.Ile600=) n.1975C>T | |
1 | g.247425244T>A | CA345557835 | NLRP3 | c.1795T>A (p.Ser599Thr) c.1660T>A (p.Ser554Thr) c.1801T>A (p.Ser601Thr) n.1976T>A | ClinVar dbSNP |
1 | g.247425244T>C | CA345557836 | NLRP3 | c.1795T>C (p.Ser599Pro) c.1660T>C (p.Ser554Pro) c.1801T>C (p.Ser601Pro) n.1976T>C | |
1 | g.247425244T>G | CA345557837 | NLRP3 | c.1795T>G (p.Ser599Ala) c.1660T>G (p.Ser554Ala) c.1801T>G (p.Ser601Ala) n.1976T>G | |
1 | g.247425245C>A | CA345557839 | NLRP3 | c.1796C>A (p.Ser599Tyr) c.1661C>A (p.Ser554Tyr) c.1802C>A (p.Ser601Tyr) n.1977C>A | |
1 | g.247425245C>G | CA345557840 | NLRP3 | c.1796C>G (p.Ser599Cys) c.1661C>G (p.Ser554Cys) c.1802C>G (p.Ser601Cys) n.1977C>G | ClinVar |
1 | g.247425245C>T | CA345557838 | NLRP3 | c.1796C>T (p.Ser599Phe) c.1661C>T (p.Ser554Phe) c.1802C>T (p.Ser601Phe) n.1977C>T | |
1 | g.247425246T>A | CA424582001 | NLRP3 | c.1797T>A (p.Ser599=) c.1662T>A (p.Ser554=) c.1803T>A (p.Ser601=) n.1978T>A | |
1 | g.247425246T>C | CA424582003 | NLRP3 | c.1797T>C (p.Ser599=) c.1662T>C (p.Ser554=) c.1803T>C (p.Ser601=) n.1978T>C | |
1 | g.247425246T>G | CA424582005 | NLRP3 | c.1797T>G (p.Ser599=) c.1662T>G (p.Ser554=) c.1803T>G (p.Ser601=) n.1978T>G | |
1 | g.247425247C>A | CA345557842 | NLRP3 | c.1798C>A (p.Gln600Lys) c.1663C>A (p.Gln555Lys) c.1804C>A (p.Gln602Lys) n.1979C>A | |
1 | g.247425247C>G | CA345557841 | NLRP3 | c.1798C>G (p.Gln600Glu) c.1663C>G (p.Gln555Glu) c.1804C>G (p.Gln602Glu) n.1979C>G | |
1 | g.247425247C>T | CA345557843 | NLRP3 | c.1798C>T (p.Gln600Ter) c.1663C>T (p.Gln555Ter) c.1804C>T (p.Gln602Ter) n.1979C>T | ClinVar COSMIC |
1 | g.247425248A= | CA1232098959 | NLRP3 | c.1799A= (p.Gln600=) c.1664A= (p.Gln555=) c.1805A= (p.Gln602=) n.1980A= | |
1 | g.247425248A>C | CA345557844 | NLRP3 | c.1799A>C (p.Gln600Pro) c.1664A>C (p.Gln555Pro) c.1805A>C (p.Gln602Pro) n.1980A>C | |
1 | g.247425248A>G | CA16043366 | NLRP3 | c.1799A>G (p.Gln600Arg) c.1664A>G (p.Gln555Arg) c.1805A>G (p.Gln602Arg) n.1980A>G | ClinVar dbSNP |
1 | g.247425248A>T | CA345557845 | NLRP3 | c.1799A>T (p.Gln600Leu) c.1664A>T (p.Gln555Leu) c.1805A>T (p.Gln602Leu) n.1980A>T | |
1 | g.247425249G>A | CA40692240 | NLRP3 | c.1800G>A (p.Gln600=) c.1665G>A (p.Gln555=) c.1806G>A (p.Gln602=) n.1981G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425249G>C | CA345557846 | NLRP3 | c.1800G>C (p.Gln600His) c.1665G>C (p.Gln555His) c.1806G>C (p.Gln602His) n.1981G>C | |
1 | g.247425249G= | CA1232098961 | NLRP3 | c.1800G= (p.Gln600=) c.1665G= (p.Gln555=) c.1806G= (p.Gln602=) n.1981G= | |
1 | g.247425249G>T | CA345557847 | NLRP3 | c.1800G>T (p.Gln600His) c.1665G>T (p.Gln555His) c.1806G>T (p.Gln602His) n.1981G>T | |
1 | g.247425250C>A | CA345557848 | NLRP3 | c.1801C>A (p.Gln601Lys) c.1666C>A (p.Gln556Lys) c.1807C>A (p.Gln603Lys) n.1982C>A | |
1 | g.247425250C= | CA1232098965 | NLRP3 | c.1801C= (p.Gln601=) c.1666C= (p.Gln556=) c.1807C= (p.Gln603=) n.1982C= | |
1 | g.247425250C>G | CA40692245 | NLRP3 | c.1801C>G (p.Gln601Glu) c.1666C>G (p.Gln556Glu) c.1807C>G (p.Gln603Glu) n.1982C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425250C>T | CA345557849 | NLRP3 | c.1801C>T (p.Gln601Ter) c.1666C>T (p.Gln556Ter) c.1807C>T (p.Gln603Ter) n.1982C>T | dbSNP gnomAD v2 |
1 | g.247425251A>C | CA345557850 | NLRP3 | c.1802A>C (p.Gln601Pro) c.1667A>C (p.Gln556Pro) c.1808A>C (p.Gln603Pro) n.1983A>C | |
1 | g.247425251A>G | CA345557851 | NLRP3 | c.1802A>G (p.Gln601Arg) c.1667A>G (p.Gln556Arg) c.1808A>G (p.Gln603Arg) n.1983A>G | |
1 | g.247425251A>T | CA345557852 | NLRP3 | c.1802A>T (p.Gln601Leu) c.1667A>T (p.Gln556Leu) c.1808A>T (p.Gln603Leu) n.1983A>T | |
1 | g.247425252A= | CA1232098966 | NLRP3 | c.1803A= (p.Gln601=) c.1668A= (p.Gln556=) c.1809A= (p.Gln603=) n.1984A= | |
1 | g.247425252A>C | CA345557853 | NLRP3 | c.1803A>C (p.Gln601His) c.1668A>C (p.Gln556His) c.1809A>C (p.Gln603His) n.1984A>C | |
1 | g.247425252A>G | CA424582026 | NLRP3 | c.1803A>G (p.Gln601=) c.1668A>G (p.Gln556=) c.1809A>G (p.Gln603=) n.1984A>G | dbSNP |
1 | g.247425252A>T | CA345557854 | NLRP3 | c.1803A>T (p.Gln601His) c.1668A>T (p.Gln556His) c.1809A>T (p.Gln603His) n.1984A>T | |
1 | g.247425253A>C | CA345557857 | NLRP3 | c.1804A>C (p.Ile602Leu) c.1669A>C (p.Ile557Leu) c.1810A>C (p.Ile604Leu) n.1985A>C | |
1 | g.247425253A>G | CA345557856 | NLRP3 | c.1804A>G (p.Ile602Val) c.1669A>G (p.Ile557Val) c.1810A>G (p.Ile604Val) n.1985A>G | |
1 | g.247425253A>T | CA345557855 | NLRP3 | c.1804A>T (p.Ile602Phe) c.1669A>T (p.Ile557Phe) c.1810A>T (p.Ile604Phe) n.1985A>T | gnomAD v4 |
1 | g.247425254T>A | CA345557858 | NLRP3 | c.1805T>A (p.Ile602Asn) c.1670T>A (p.Ile557Asn) c.1811T>A (p.Ile604Asn) n.1986T>A | |
1 | g.247425254T>C | CA345557859 | NLRP3 | c.1805T>C (p.Ile602Thr) c.1670T>C (p.Ile557Thr) c.1811T>C (p.Ile604Thr) n.1986T>C | |
1 | g.247425254T>G | CA345557860 | NLRP3 | c.1805T>G (p.Ile602Ser) c.1670T>G (p.Ile557Ser) c.1811T>G (p.Ile604Ser) n.1986T>G | |
1 | g.247425255C>A | CA424582040 | NLRP3 | c.1806C>A (p.Ile602=) c.1671C>A (p.Ile557=) c.1812C>A (p.Ile604=) n.1987C>A | |
1 | g.247425255C>G | CA345557861 | NLRP3 | c.1806C>G (p.Ile602Met) c.1671C>G (p.Ile557Met) c.1812C>G (p.Ile604Met) n.1987C>G | |
1 | g.247425255C>T | CA424582038 | NLRP3 | c.1806C>T (p.Ile602=) c.1671C>T (p.Ile557=) c.1812C>T (p.Ile604=) n.1987C>T | COSMIC |
1 | g.247425256A= | CA1232098971 | NLRP3 | c.1807A= (p.Arg603=) c.1672A= (p.Arg558=) c.1813A= (p.Arg605=) n.1988A= | |
1 | g.247425256A>C | CA424582042 | NLRP3 | c.1807A>C (p.Arg603=) c.1672A>C (p.Arg558=) c.1813A>C (p.Arg605=) n.1988A>C | |
1 | g.247425256A>G | CA1495071 | NLRP3 | c.1807A>G (p.Arg603Gly) c.1672A>G (p.Arg558Gly) c.1813A>G (p.Arg605Gly) n.1988A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425256A>T | CA345557862 | NLRP3 | c.1807A>T (p.Arg603Trp) c.1672A>T (p.Arg558Trp) c.1813A>T (p.Arg605Trp) n.1988A>T | |
1 | g.247425257G>A | CA40692247 | NLRP3 | c.1808G>A (p.Arg603Lys) c.1673G>A (p.Arg558Lys) c.1814G>A (p.Arg605Lys) n.1989G>A | dbSNP COSMIC |
1 | g.247425257G>C | CA345557863 | NLRP3 | c.1808G>C (p.Arg603Thr) c.1673G>C (p.Arg558Thr) c.1814G>C (p.Arg605Thr) n.1989G>C | |
1 | g.247425257G= | CA1141640787 | NLRP3 | c.1808G= (p.Arg603=) c.1673G= (p.Arg558=) c.1814G= (p.Arg605=) n.1989G= | |
1 | g.247425257G>T | CA345557864 | NLRP3 | c.1808G>T (p.Arg603Met) c.1673G>T (p.Arg558Met) c.1814G>T (p.Arg605Met) n.1989G>T | COSMIC |
1 | g.247425258G>A | CA40692248 | NLRP3 | c.1809G>A (p.Arg603=) c.1674G>A (p.Arg558=) c.1815G>A (p.Arg605=) n.1990G>A | dbSNP gnomAD v4 COSMIC |
1 | g.247425258G>C | CA345557865 | NLRP3 | c.1809G>C (p.Arg603Ser) c.1674G>C (p.Arg558Ser) c.1815G>C (p.Arg605Ser) n.1990G>C | dbSNP |
1 | g.247425258G= | CA1141799461 | NLRP3 | c.1809G= (p.Arg603=) c.1674G= (p.Arg558=) c.1815G= (p.Arg605=) n.1990G= | |
1 | g.247425258G>T | CA345557866 | NLRP3 | c.1809G>T (p.Arg603Ser) c.1674G>T (p.Arg558Ser) c.1815G>T (p.Arg605Ser) n.1990G>T | |
1 | g.247425259C>A | CA345557868 | NLRP3 | c.1810C>A (p.Leu604Met) c.1675C>A (p.Leu559Met) c.1816C>A (p.Leu606Met) n.1991C>A | |
1 | g.247425259C>G | CA345557867 | NLRP3 | c.1810C>G (p.Leu604Val) c.1675C>G (p.Leu559Val) c.1816C>G (p.Leu606Val) n.1991C>G | |
1 | g.247425259C>T | CA424582055 | NLRP3 | c.1810C>T (p.Leu604=) c.1675C>T (p.Leu559=) c.1816C>T (p.Leu606=) n.1991C>T | |
1 | g.247425260T>A | CA1495072 | NLRP3 | c.1811T>A (p.Leu604Gln) c.1676T>A (p.Leu559Gln) c.1817T>A (p.Leu606Gln) n.1992T>A | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.247425260T>C | CA345557869 | NLRP3 | c.1811T>C (p.Leu604Pro) c.1676T>C (p.Leu559Pro) c.1817T>C (p.Leu606Pro) n.1992T>C | |
1 | g.247425260T>G | CA345557870 | NLRP3 | c.1811T>G (p.Leu604Arg) c.1676T>G (p.Leu559Arg) c.1817T>G (p.Leu606Arg) n.1992T>G | |
1 | g.247425260T= | CA1143358477 | NLRP3 | c.1811T= (p.Leu604=) c.1676T= (p.Leu559=) c.1817T= (p.Leu606=) n.1992T= | |
1 | g.247425261G>A | CA424582061 | NLRP3 | c.1812G>A (p.Leu604=) c.1677G>A (p.Leu559=) c.1818G>A (p.Leu606=) n.1993G>A | COSMIC |
1 | g.247425261G>C | CA424582063 | NLRP3 | c.1812G>C (p.Leu604=) c.1677G>C (p.Leu559=) c.1818G>C (p.Leu606=) n.1993G>C | |
1 | g.247425261G>T | CA424582065 | NLRP3 | c.1812G>T (p.Leu604=) c.1677G>T (p.Leu559=) c.1818G>T (p.Leu606=) n.1993G>T | |
1 | g.247425262G>A | CA345557871 | NLRP3 | c.1813G>A (p.Glu605Lys) c.1678G>A (p.Glu560Lys) c.1819G>A (p.Glu607Lys) n.1994G>A | gnomAD v4 COSMIC |
1 | g.247425262G>C | CA345557872 | NLRP3 | c.1813G>C (p.Glu605Gln) c.1678G>C (p.Glu560Gln) c.1819G>C (p.Glu607Gln) n.1994G>C | |
1 | g.247425262G>T | CA345557873 | NLRP3 | c.1813G>T (p.Glu605Ter) c.1678G>T (p.Glu560Ter) c.1819G>T (p.Glu607Ter) n.1994G>T | |
1 | g.247425263A= | CA1148244637 | NLRP3 | c.1814A= (p.Glu605=) c.1679A= (p.Glu560=) c.1820A= (p.Glu607=) n.1995A= | |
1 | g.247425263A>C | CA345557874 | NLRP3 | c.1814A>C (p.Glu605Ala) c.1679A>C (p.Glu560Ala) c.1820A>C (p.Glu607Ala) n.1995A>C | |
1 | g.247425263A>G | CA345557875 | NLRP3 | c.1814A>G (p.Glu605Gly) c.1679A>G (p.Glu560Gly) c.1820A>G (p.Glu607Gly) n.1995A>G | |
1 | g.247425263A>T | CA1495073 | NLRP3 | c.1814A>T (p.Glu605Val) c.1679A>T (p.Glu560Val) c.1820A>T (p.Glu607Val) n.1995A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425264G>A | CA424582071 | NLRP3 | c.1815G>A (p.Glu605=) c.1680G>A (p.Glu560=) c.1821G>A (p.Glu607=) n.1996G>A | |
1 | g.247425264G>C | CA345557876 | NLRP3 | c.1815G>C (p.Glu605Asp) c.1680G>C (p.Glu560Asp) c.1821G>C (p.Glu607Asp) n.1996G>C | |
1 | g.247425264G>T | CA345557877 | NLRP3 | c.1815G>T (p.Glu605Asp) c.1680G>T (p.Glu560Asp) c.1821G>T (p.Glu607Asp) n.1996G>T | |
1 | g.247425265C>A | CA345557878 | NLRP3 | c.1816C>A (p.Leu606Met) c.1681C>A (p.Leu561Met) c.1822C>A (p.Leu608Met) n.1997C>A | |
1 | g.247425265C>G | CA345557879 | NLRP3 | c.1816C>G (p.Leu606Val) c.1681C>G (p.Leu561Val) c.1822C>G (p.Leu608Val) n.1997C>G | |
1 | g.247425265C>T | CA424582075 | NLRP3 | c.1816C>T (p.Leu606=) c.1681C>T (p.Leu561=) c.1822C>T (p.Leu608=) n.1997C>T | |
1 | g.247425266T>A | CA345557882 | NLRP3 | c.1817T>A (p.Leu606Gln) c.1682T>A (p.Leu561Gln) c.1823T>A (p.Leu608Gln) n.1998T>A | |
1 | g.247425266T>C | CA345557880 | NLRP3 | c.1817T>C (p.Leu606Pro) c.1682T>C (p.Leu561Pro) c.1823T>C (p.Leu608Pro) n.1998T>C | |
1 | g.247425266T>G | CA345557881 | NLRP3 | c.1817T>G (p.Leu606Arg) c.1682T>G (p.Leu561Arg) c.1823T>G (p.Leu608Arg) n.1998T>G | |
1 | g.247425267G>A | CA1495074 | NLRP3 | c.1818G>A (p.Leu606=) c.1683G>A (p.Leu561=) c.1824G>A (p.Leu608=) n.1999G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425267G>C | CA424582084 | NLRP3 | c.1818G>C (p.Leu606=) c.1683G>C (p.Leu561=) c.1824G>C (p.Leu608=) n.1999G>C | |
1 | g.247425267G= | CA1143427665 | NLRP3 | c.1818G= (p.Leu606=) c.1683G= (p.Leu561=) c.1824G= (p.Leu608=) n.1999G= | |
1 | g.247425267G>T | CA424582085 | NLRP3 | c.1818G>T (p.Leu606=) c.1683G>T (p.Leu561=) c.1824G>T (p.Leu608=) n.1999G>T | |
1 | g.247425268C>A | CA345557883 | NLRP3 | c.1819C>A (p.Leu607Met) c.1684C>A (p.Leu562Met) c.1825C>A (p.Leu609Met) n.2000C>A | |
1 | g.247425268C>G | CA345557884 | NLRP3 | c.1819C>G (p.Leu607Val) c.1684C>G (p.Leu562Val) c.1825C>G (p.Leu609Val) n.2000C>G | |
1 | g.247425268C>T | CA424582086 | NLRP3 | c.1819C>T (p.Leu607=) c.1684C>T (p.Leu562=) c.1825C>T (p.Leu609=) n.2000C>T | |
1 | g.247425269T>A | CA345557885 | NLRP3 | c.1820T>A (p.Leu607Gln) c.1685T>A (p.Leu562Gln) c.1826T>A (p.Leu609Gln) n.2001T>A | |
1 | g.247425269T>C | CA345557886 | NLRP3 | c.1820T>C (p.Leu607Pro) c.1685T>C (p.Leu562Pro) c.1826T>C (p.Leu609Pro) n.2001T>C | dbSNP |
1 | g.247425269T>G | CA345557887 | NLRP3 | c.1820T>G (p.Leu607Arg) c.1685T>G (p.Leu562Arg) c.1826T>G (p.Leu609Arg) n.2001T>G | |
1 | g.247425269T= | CA1232098985 | NLRP3 | c.1820T= (p.Leu607=) c.1685T= (p.Leu562=) c.1826T= (p.Leu609=) n.2001T= | |
1 | g.247425270G>A | CA424582094 | NLRP3 | c.1821G>A (p.Leu607=) c.1686G>A (p.Leu562=) c.1827G>A (p.Leu609=) n.2002G>A | |
1 | g.247425270G>C | CA424582096 | NLRP3 | c.1821G>C (p.Leu607=) c.1686G>C (p.Leu562=) c.1827G>C (p.Leu609=) n.2002G>C | |
1 | g.247425270G>T | CA424582098 | NLRP3 | c.1821G>T (p.Leu607=) c.1686G>T (p.Leu562=) c.1827G>T (p.Leu609=) n.2002G>T | |
1 | g.247425271A>C | CA345557888 | NLRP3 | c.1822A>C (p.Lys608Gln) c.1687A>C (p.Lys563Gln) c.1828A>C (p.Lys610Gln) n.2003A>C | |
1 | g.247425271A>G | CA345557889 | NLRP3 | c.1822A>G (p.Lys608Glu) c.1687A>G (p.Lys563Glu) c.1828A>G (p.Lys610Glu) n.2003A>G | |
1 | g.247425271A>T | CA345557890 | NLRP3 | c.1822A>T (p.Lys608Ter) c.1687A>T (p.Lys563Ter) c.1828A>T (p.Lys610Ter) n.2003A>T | |
1 | g.247425272A>C | CA345557891 | NLRP3 | c.1823A>C (p.Lys608Thr) c.1688A>C (p.Lys563Thr) c.1829A>C (p.Lys610Thr) n.2004A>C | |
1 | g.247425272A>G | CA345557892 | NLRP3 | c.1823A>G (p.Lys608Arg) c.1688A>G (p.Lys563Arg) c.1829A>G (p.Lys610Arg) n.2004A>G | |
1 | g.247425272A>T | CA345557893 | NLRP3 | c.1823A>T (p.Lys608Ile) c.1688A>T (p.Lys563Ile) c.1829A>T (p.Lys610Ile) n.2004A>T | |
1 | g.247425273A>C | CA345557895 | NLRP3 | c.1824A>C (p.Lys608Asn) c.1689A>C (p.Lys563Asn) c.1830A>C (p.Lys610Asn) n.2005A>C | |
1 | g.247425273A>G | CA424582108 | NLRP3 | c.1824A>G (p.Lys608=) c.1689A>G (p.Lys563=) c.1830A>G (p.Lys610=) n.2005A>G | |
1 | g.247425273A>T | CA345557894 | NLRP3 | c.1824A>T (p.Lys608Asn) c.1689A>T (p.Lys563Asn) c.1830A>T (p.Lys610Asn) n.2005A>T | |
1 | g.247425274T>A | CA345557896 | NLRP3 | c.1825T>A (p.Trp609Arg) c.1690T>A (p.Trp564Arg) c.1831T>A (p.Trp611Arg) n.2006T>A | |
1 | g.247425274T>C | CA345557898 | NLRP3 | c.1825T>C (p.Trp609Arg) c.1690T>C (p.Trp564Arg) c.1831T>C (p.Trp611Arg) n.2006T>C | |
1 | g.247425274T>G | CA345557897 | NLRP3 | c.1825T>G (p.Trp609Gly) c.1690T>G (p.Trp564Gly) c.1831T>G (p.Trp611Gly) n.2006T>G | |
1 | g.247425275G>A | CA345557899 | NLRP3 | c.1826G>A (p.Trp609Ter) c.1691G>A (p.Trp564Ter) c.1832G>A (p.Trp611Ter) n.2007G>A | |
1 | g.247425275G>C | CA345557900 | NLRP3 | c.1826G>C (p.Trp609Ser) c.1691G>C (p.Trp564Ser) c.1832G>C (p.Trp611Ser) n.2007G>C | |
1 | g.247425275G>T | CA345557901 | NLRP3 | c.1826G>T (p.Trp609Leu) c.1691G>T (p.Trp564Leu) c.1832G>T (p.Trp611Leu) n.2007G>T | |
1 | g.247425276del | CA2740241383 | NLRP3 | c.1827del (p.Trp609Ter) c.1692del (p.Trp564Ter) c.1833del (p.Trp611Ter) n.2008del | |
1 | g.247425276G>A | CA345557902 | NLRP3 | c.1827G>A (p.Trp609Ter) c.1692G>A (p.Trp564Ter) c.1833G>A (p.Trp611Ter) n.2008G>A | COSMIC |
1 | g.247425276G>C | CA345557903 | NLRP3 | c.1827G>C (p.Trp609Cys) c.1692G>C (p.Trp564Cys) c.1833G>C (p.Trp611Cys) n.2008G>C | gnomAD v4 COSMIC |
1 | g.247425276G>T | CA345557904 | NLRP3 | c.1827G>T (p.Trp609Cys) c.1692G>T (p.Trp564Cys) c.1833G>T (p.Trp611Cys) n.2008G>T | |
1 | g.247425277A>C | CA345557905 | NLRP3 | c.1828A>C (p.Ile610Leu) c.1693A>C (p.Ile565Leu) c.1834A>C (p.Ile612Leu) n.2009A>C | |
1 | g.247425277A>G | CA345557906 | NLRP3 | c.1828A>G (p.Ile610Val) c.1693A>G (p.Ile565Val) c.1834A>G (p.Ile612Val) n.2009A>G | |
1 | g.247425277A>T | CA345557907 | NLRP3 | c.1828A>T (p.Ile610Phe) c.1693A>T (p.Ile565Phe) c.1834A>T (p.Ile612Phe) n.2009A>T | gnomAD v4 |
1 | g.247425278T>A | CA345557908 | NLRP3 | c.1829T>A (p.Ile610Asn) c.1694T>A (p.Ile565Asn) c.1835T>A (p.Ile612Asn) n.2010T>A | |
1 | g.247425278T>C | CA345557909 | NLRP3 | c.1829T>C (p.Ile610Thr) c.1694T>C (p.Ile565Thr) c.1835T>C (p.Ile612Thr) n.2010T>C | ClinVar dbSNP gnomAD v4 |
1 | g.247425278T>G | CA345557910 | NLRP3 | c.1829T>G (p.Ile610Ser) c.1694T>G (p.Ile565Ser) c.1835T>G (p.Ile612Ser) n.2010T>G | gnomAD v4 |
1 | g.247425278T= | CA1232098988 | NLRP3 | c.1829T= (p.Ile610=) c.1694T= (p.Ile565=) c.1835T= (p.Ile612=) n.2010T= | |
1 | g.247425279T>A | CA424582125 | NLRP3 | c.1830T>A (p.Ile610=) c.1695T>A (p.Ile565=) c.1836T>A (p.Ile612=) n.2011T>A | |
1 | g.247425279T>C | CA424582127 | NLRP3 | c.1830T>C (p.Ile610=) c.1695T>C (p.Ile565=) c.1836T>C (p.Ile612=) n.2011T>C | gnomAD v4 COSMIC |
1 | g.247425279T>G | CA345557911 | NLRP3 | c.1830T>G (p.Ile610Met) c.1695T>G (p.Ile565Met) c.1836T>G (p.Ile612Met) n.2011T>G | |
1 | g.247425280G>A | CA345557912 | NLRP3 | c.1831G>A (p.Glu611Lys) c.1696G>A (p.Glu566Lys) c.1837G>A (p.Glu613Lys) n.2012G>A | gnomAD v4 |
1 | g.247425280G>C | CA345557913 | NLRP3 | c.1831G>C (p.Glu611Gln) c.1696G>C (p.Glu566Gln) c.1837G>C (p.Glu613Gln) n.2012G>C | |
1 | g.247425280G>T | CA345557914 | NLRP3 | c.1831G>T (p.Glu611Ter) c.1696G>T (p.Glu566Ter) c.1837G>T (p.Glu613Ter) n.2012G>T | gnomAD v4 COSMIC |
1 | g.247425281A>C | CA345557915 | NLRP3 | c.1832A>C (p.Glu611Ala) c.1697A>C (p.Glu566Ala) c.1838A>C (p.Glu613Ala) n.2013A>C | |
1 | g.247425281A>G | CA345557916 | NLRP3 | c.1832A>G (p.Glu611Gly) c.1697A>G (p.Glu566Gly) c.1838A>G (p.Glu613Gly) n.2013A>G | |
1 | g.247425281A>T | CA345557917 | NLRP3 | c.1832A>T (p.Glu611Val) c.1697A>T (p.Glu566Val) c.1838A>T (p.Glu613Val) n.2013A>T | |
1 | g.247425282A>C | CA345557918 | NLRP3 | c.1833A>C (p.Glu611Asp) c.1698A>C (p.Glu566Asp) c.1839A>C (p.Glu613Asp) n.2014A>C | |
1 | g.247425282A>G | CA424582873 | NLRP3 | c.1833A>G (p.Glu611=) c.1698A>G (p.Glu566=) c.1839A>G (p.Glu613=) n.2014A>G | |
1 | g.247425282A>T | CA345557919 | NLRP3 | c.1833A>T (p.Glu611Asp) c.1698A>T (p.Glu566Asp) c.1839A>T (p.Glu613Asp) n.2014A>T | |
1 | g.247425283G>A | CA345557920 | NLRP3 | c.1834G>A (p.Val612Met) c.1699G>A (p.Val567Met) c.1840G>A (p.Val614Met) n.2015G>A | |
1 | g.247425283G>C | CA345557921 | NLRP3 | c.1834G>C (p.Val612Leu) c.1699G>C (p.Val567Leu) c.1840G>C (p.Val614Leu) n.2015G>C | |
1 | g.247425283G>T | CA345557922 | NLRP3 | c.1834G>T (p.Val612Leu) c.1699G>T (p.Val567Leu) c.1840G>T (p.Val614Leu) n.2015G>T | |
1 | g.247425284T>A | CA345557923 | NLRP3 | c.1835T>A (p.Val612Glu) c.1700T>A (p.Val567Glu) c.1841T>A (p.Val614Glu) n.2016T>A | |
1 | g.247425284T>C | CA345557924 | NLRP3 | c.1835T>C (p.Val612Ala) c.1700T>C (p.Val567Ala) c.1841T>C (p.Val614Ala) n.2016T>C | |
1 | g.247425284T>G | CA345557925 | NLRP3 | c.1835T>G (p.Val612Gly) c.1700T>G (p.Val567Gly) c.1841T>G (p.Val614Gly) n.2016T>G | |
1 | g.247425285G>A | CA424582875 | NLRP3 | c.1836G>A (p.Val612=) c.1701G>A (p.Val567=) c.1842G>A (p.Val614=) n.2017G>A | dbSNP gnomAD v4 |
1 | g.247425285G>C | CA424582876 | NLRP3 | c.1836G>C (p.Val612=) c.1701G>C (p.Val567=) c.1842G>C (p.Val614=) n.2017G>C | |
1 | g.247425285G= | CA1232098990 | NLRP3 | c.1836G= (p.Val612=) c.1701G= (p.Val567=) c.1842G= (p.Val614=) n.2017G= | |
1 | g.247425285G>T | CA424582877 | NLRP3 | c.1836G>T (p.Val612=) c.1701G>T (p.Val567=) c.1842G>T (p.Val614=) n.2017G>T | |
1 | g.247425286A>C | CA345557926 | NLRP3 | c.1837A>C (p.Lys613Gln) c.1702A>C (p.Lys568Gln) c.1843A>C (p.Lys615Gln) n.2018A>C | |
1 | g.247425286A>G | CA345557928 | NLRP3 | c.1837A>G (p.Lys613Glu) c.1702A>G (p.Lys568Glu) c.1843A>G (p.Lys615Glu) n.2018A>G | |
1 | g.247425286A>T | CA345557927 | NLRP3 | c.1837A>T (p.Lys613Ter) c.1702A>T (p.Lys568Ter) c.1843A>T (p.Lys615Ter) n.2018A>T | |
1 | g.247425287A>C | CA345557929 | NLRP3 | c.1838A>C (p.Lys613Thr) c.1703A>C (p.Lys568Thr) c.1844A>C (p.Lys615Thr) n.2019A>C | |
1 | g.247425287A>G | CA345557930 | NLRP3 | c.1838A>G (p.Lys613Arg) c.1703A>G (p.Lys568Arg) c.1844A>G (p.Lys615Arg) n.2019A>G | |
1 | g.247425287A>T | CA345557931 | NLRP3 | c.1838A>T (p.Lys613Ile) c.1703A>T (p.Lys568Ile) c.1844A>T (p.Lys615Ile) n.2019A>T | |
1 | g.247425288A= | CA1232098994 | NLRP3 | c.1839A= (p.Lys613=) c.1704A= (p.Lys568=) c.1845A= (p.Lys615=) n.2020A= | |
1 | g.247425288A>C | CA345557932 | NLRP3 | c.1839A>C (p.Lys613Asn) c.1704A>C (p.Lys568Asn) c.1845A>C (p.Lys615Asn) n.2020A>C | |
1 | g.247425288A>G | CA424582881 | NLRP3 | c.1839A>G (p.Lys613=) c.1704A>G (p.Lys568=) c.1845A>G (p.Lys615=) n.2020A>G | |
1 | g.247425288A>T | CA10577234 | NLRP3 | c.1839A>T (p.Lys613Asn) c.1704A>T (p.Lys568Asn) c.1845A>T (p.Lys615Asn) n.2020A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425289G>A | CA345557935 | NLRP3 | c.1840G>A (p.Ala614Thr) c.1705G>A (p.Ala569Thr) c.1846G>A (p.Ala616Thr) n.2021G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425289G>C | CA345557934 | NLRP3 | c.1840G>C (p.Ala614Pro) c.1705G>C (p.Ala569Pro) c.1846G>C (p.Ala616Pro) n.2021G>C | |
1 | g.247425289G= | CA1232099003 | NLRP3 | c.1840G= (p.Ala614=) c.1705G= (p.Ala569=) c.1846G= (p.Ala616=) n.2021G= | |
1 | g.247425289G>T | CA345557933 | NLRP3 | c.1840G>T (p.Ala614Ser) c.1705G>T (p.Ala569Ser) c.1846G>T (p.Ala616Ser) n.2021G>T | |
1 | g.247425290C>A | CA345557936 | NLRP3 | c.1841C>A (p.Ala614Asp) c.1706C>A (p.Ala569Asp) c.1847C>A (p.Ala616Asp) n.2022C>A | |
1 | g.247425290C= | CA1232099006 | NLRP3 | c.1841C= (p.Ala614=) c.1706C= (p.Ala569=) c.1847C= (p.Ala616=) n.2022C= | |
1 | g.247425290C>G | CA345557937 | NLRP3 | c.1841C>G (p.Ala614Gly) c.1706C>G (p.Ala569Gly) c.1847C>G (p.Ala616Gly) n.2022C>G | dbSNP gnomAD v4 |
1 | g.247425290C>T | CA345557938 | NLRP3 | c.1841C>T (p.Ala614Val) c.1706C>T (p.Ala569Val) c.1847C>T (p.Ala616Val) n.2022C>T | COSMIC |
1 | g.247425291C>A | CA424582885 | NLRP3 | c.1842C>A (p.Ala614=) c.1707C>A (p.Ala569=) c.1848C>A (p.Ala616=) n.2023C>A | |
1 | g.247425291C= | CA1232099009 | NLRP3 | c.1842C= (p.Ala614=) c.1707C= (p.Ala569=) c.1848C= (p.Ala616=) n.2023C= | |
1 | g.247425291C>G | CA424582886 | NLRP3 | c.1842C>G (p.Ala614=) c.1707C>G (p.Ala569=) c.1848C>G (p.Ala616=) n.2023C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425291C>T | CA424582887 | NLRP3 | c.1842C>T (p.Ala614=) c.1707C>T (p.Ala569=) c.1848C>T (p.Ala616=) n.2023C>T | |
1 | g.247425292A>C | CA345557939 | NLRP3 | c.1843A>C (p.Lys615Gln) c.1708A>C (p.Lys570Gln) c.1849A>C (p.Lys617Gln) n.2024A>C | |
1 | g.247425292A>G | CA345557940 | NLRP3 | c.1843A>G (p.Lys615Glu) c.1708A>G (p.Lys570Glu) c.1849A>G (p.Lys617Glu) n.2024A>G | |
1 | g.247425292A>T | CA345557941 | NLRP3 | c.1843A>T (p.Lys615Ter) c.1708A>T (p.Lys570Ter) c.1849A>T (p.Lys617Ter) n.2024A>T | |
1 | g.247425293A>C | CA345557942 | NLRP3 | c.1844A>C (p.Lys615Thr) c.1709A>C (p.Lys570Thr) c.1850A>C (p.Lys617Thr) n.2025A>C | COSMIC |
1 | g.247425293A>G | CA345557944 | NLRP3 | c.1844A>G (p.Lys615Arg) c.1709A>G (p.Lys570Arg) c.1850A>G (p.Lys617Arg) n.2025A>G | |
1 | g.247425293A>T | CA345557943 | NLRP3 | c.1844A>T (p.Lys615Ile) c.1709A>T (p.Lys570Ile) c.1850A>T (p.Lys617Ile) n.2025A>T | gnomAD v4 |
1 | g.247425294A>C | CA345557945 | NLRP3 | c.1845A>C (p.Lys615Asn) c.1710A>C (p.Lys570Asn) c.1851A>C (p.Lys617Asn) n.2026A>C | |
1 | g.247425294A>G | CA424582888 | NLRP3 | c.1845A>G (p.Lys615=) c.1710A>G (p.Lys570=) c.1851A>G (p.Lys617=) n.2026A>G | |
1 | g.247425294A>T | CA345557946 | NLRP3 | c.1845A>T (p.Lys615Asn) c.1710A>T (p.Lys570Asn) c.1851A>T (p.Lys617Asn) n.2026A>T | |
1 | g.247425295G>A | CA345557947 | NLRP3 | c.1846G>A (p.Ala616Thr) c.1711G>A (p.Ala571Thr) c.1852G>A (p.Ala618Thr) n.2027G>A | |
1 | g.247425295G>C | CA345557948 | NLRP3 | c.1846G>C (p.Ala616Pro) c.1711G>C (p.Ala571Pro) c.1852G>C (p.Ala618Pro) n.2027G>C | |
1 | g.247425295G>T | CA345557949 | NLRP3 | c.1846G>T (p.Ala616Ser) c.1711G>T (p.Ala571Ser) c.1852G>T (p.Ala618Ser) n.2027G>T | gnomAD v4 |
1 | g.247425295_247425306del | CA2748523228 | NLRP3 | c.1846_1857del (p.Ala616_Leu619del) c.1711_1722del (p.Ala571_Leu574del) c.1852_1863del (p.Ala618_Leu621del) n.2027_2038del | |
1 | g.247425296C>A | CA345557950 | NLRP3 | c.1847C>A (p.Ala616Asp) c.1712C>A (p.Ala571Asp) c.1853C>A (p.Ala618Asp) n.2028C>A | |
1 | g.247425296C= | CA1232099012 | NLRP3 | c.1847C= (p.Ala616=) c.1712C= (p.Ala571=) c.1853C= (p.Ala618=) n.2028C= | |
1 | g.247425296C>G | CA345557951 | NLRP3 | c.1847C>G (p.Ala616Gly) c.1712C>G (p.Ala571Gly) c.1853C>G (p.Ala618Gly) n.2028C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425296C>T | CA345557952 | NLRP3 | c.1847C>T (p.Ala616Val) c.1712C>T (p.Ala571Val) c.1853C>T (p.Ala618Val) n.2028C>T | |
1 | g.247425297T>A | CA424582892 | NLRP3 | c.1848T>A (p.Ala616=) c.1713T>A (p.Ala571=) c.1854T>A (p.Ala618=) n.2029T>A | |
1 | g.247425297T>C | CA424582891 | NLRP3 | c.1848T>C (p.Ala616=) c.1713T>C (p.Ala571=) c.1854T>C (p.Ala618=) n.2029T>C | dbSNP |
1 | g.247425297T>G | CA424582890 | NLRP3 | c.1848T>G (p.Ala616=) c.1713T>G (p.Ala571=) c.1854T>G (p.Ala618=) n.2029T>G | |
1 | g.247425298A>C | CA345557953 | NLRP3 | c.1849A>C (p.Lys617Gln) c.1714A>C (p.Lys572Gln) c.1855A>C (p.Lys619Gln) n.2030A>C | |
1 | g.247425298A>G | CA345557954 | NLRP3 | c.1849A>G (p.Lys617Glu) c.1714A>G (p.Lys572Glu) c.1855A>G (p.Lys619Glu) n.2030A>G | |
1 | g.247425298A>T | CA345557955 | NLRP3 | c.1849A>T (p.Lys617Ter) c.1714A>T (p.Lys572Ter) c.1855A>T (p.Lys619Ter) n.2030A>T | |
1 | g.247425299A>C | CA345557957 | NLRP3 | c.1850A>C (p.Lys617Thr) c.1715A>C (p.Lys572Thr) c.1856A>C (p.Lys619Thr) n.2031A>C | COSMIC |
1 | g.247425299A>G | CA345557958 | NLRP3 | c.1850A>G (p.Lys617Arg) c.1715A>G (p.Lys572Arg) c.1856A>G (p.Lys619Arg) n.2031A>G | |
1 | g.247425299A>T | CA345557956 | NLRP3 | c.1850A>T (p.Lys617Ile) c.1715A>T (p.Lys572Ile) c.1856A>T (p.Lys619Ile) n.2031A>T | |
1 | g.247425300A>C | CA345557960 | NLRP3 | c.1851A>C (p.Lys617Asn) c.1716A>C (p.Lys572Asn) c.1857A>C (p.Lys619Asn) n.2032A>C | |
1 | g.247425300A>G | CA424582895 | NLRP3 | c.1851A>G (p.Lys617=) c.1716A>G (p.Lys572=) c.1857A>G (p.Lys619=) n.2032A>G | ClinVar dbSNP |
1 | g.247425300A>T | CA345557959 | NLRP3 | c.1851A>T (p.Lys617Asn) c.1716A>T (p.Lys572Asn) c.1857A>T (p.Lys619Asn) n.2032A>T | |
1 | g.247425301A>C | CA345557961 | NLRP3 | c.1852A>C (p.Lys618Gln) c.1717A>C (p.Lys573Gln) c.1858A>C (p.Lys620Gln) n.2033A>C | |
1 | g.247425301A>G | CA345557962 | NLRP3 | c.1852A>G (p.Lys618Glu) c.1717A>G (p.Lys573Glu) c.1858A>G (p.Lys620Glu) n.2033A>G | |
1 | g.247425301A>T | CA345557963 | NLRP3 | c.1852A>T (p.Lys618Ter) c.1717A>T (p.Lys573Ter) c.1858A>T (p.Lys620Ter) n.2033A>T | |
1 | g.247425302A>C | CA345557964 | NLRP3 | c.1853A>C (p.Lys618Thr) c.1718A>C (p.Lys573Thr) c.1859A>C (p.Lys620Thr) n.2034A>C | |
1 | g.247425302A>G | CA345557965 | NLRP3 | c.1853A>G (p.Lys618Arg) c.1718A>G (p.Lys573Arg) c.1859A>G (p.Lys620Arg) n.2034A>G | |
1 | g.247425302A>T | CA345557966 | NLRP3 | c.1853A>T (p.Lys618Met) c.1718A>T (p.Lys573Met) c.1859A>T (p.Lys620Met) n.2034A>T | |
1 | g.247425303G>A | CA424582899 | NLRP3 | c.1854G>A (p.Lys618=) c.1719G>A (p.Lys573=) c.1860G>A (p.Lys620=) n.2035G>A | COSMIC |
1 | g.247425303G>C | CA345557968 | NLRP3 | c.1854G>C (p.Lys618Asn) c.1719G>C (p.Lys573Asn) c.1860G>C (p.Lys620Asn) n.2035G>C | |
1 | g.247425303G>T | CA345557967 | NLRP3 | c.1854G>T (p.Lys618Asn) c.1719G>T (p.Lys573Asn) c.1860G>T (p.Lys620Asn) n.2035G>T | |
1 | g.247425304C>A | CA345557969 | NLRP3 | c.1855C>A (p.Leu619Met) c.1720C>A (p.Leu574Met) c.1861C>A (p.Leu621Met) n.2036C>A | |
1 | g.247425304C= | CA1232099015 | NLRP3 | c.1855C= (p.Leu619=) c.1720C= (p.Leu574=) c.1861C= (p.Leu621=) n.2036C= | |
1 | g.247425304C>G | CA345557970 | NLRP3 | c.1855C>G (p.Leu619Val) c.1720C>G (p.Leu574Val) c.1861C>G (p.Leu621Val) n.2036C>G | |
1 | g.247425304C>T | CA1495075 | NLRP3 | c.1855C>T (p.Leu619=) c.1720C>T (p.Leu574=) c.1861C>T (p.Leu621=) n.2036C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425305T>A | CA345557971 | NLRP3 | c.1856T>A (p.Leu619Gln) c.1721T>A (p.Leu574Gln) c.1862T>A (p.Leu621Gln) n.2037T>A | COSMIC |
1 | g.247425305T>C | CA345557972 | NLRP3 | c.1856T>C (p.Leu619Pro) c.1721T>C (p.Leu574Pro) c.1862T>C (p.Leu621Pro) n.2037T>C | |
1 | g.247425305T>G | CA345557973 | NLRP3 | c.1856T>G (p.Leu619Arg) c.1721T>G (p.Leu574Arg) c.1862T>G (p.Leu621Arg) n.2037T>G | |
1 | g.247425306G>A | CA424582901 | NLRP3 | c.1857G>A (p.Leu619=) c.1722G>A (p.Leu574=) c.1863G>A (p.Leu621=) n.2038G>A | gnomAD v4 |
1 | g.247425306G>C | CA424582902 | NLRP3 | c.1857G>C (p.Leu619=) c.1722G>C (p.Leu574=) c.1863G>C (p.Leu621=) n.2038G>C | |
1 | g.247425306G>T | CA424582903 | NLRP3 | c.1857G>T (p.Leu619=) c.1722G>T (p.Leu574=) c.1863G>T (p.Leu621=) n.2038G>T | gnomAD v4 |
1 | g.247425307C>A | CA1495076 | NLRP3 | c.1858C>A (p.Gln620Lys) c.1723C>A (p.Gln575Lys) c.1864C>A (p.Gln622Lys) n.2039C>A | dbSNP ExAC |
1 | g.247425307C= | CA1142205928 | NLRP3 | c.1858C= (p.Gln620=) c.1723C= (p.Gln575=) c.1864C= (p.Gln622=) n.2039C= | |
1 | g.247425307C>G | CA345557975 | NLRP3 | c.1858C>G (p.Gln620Glu) c.1723C>G (p.Gln575Glu) c.1864C>G (p.Gln622Glu) n.2039C>G | |
1 | g.247425307C>T | CA345557974 | NLRP3 | c.1858C>T (p.Gln620Ter) c.1723C>T (p.Gln575Ter) c.1864C>T (p.Gln622Ter) n.2039C>T | dbSNP gnomAD v4 |
1 | g.247425308A>C | CA345557976 | NLRP3 | c.1859A>C (p.Gln620Pro) c.1724A>C (p.Gln575Pro) c.1865A>C (p.Gln622Pro) n.2040A>C | |
1 | g.247425308A>G | CA345557977 | NLRP3 | c.1859A>G (p.Gln620Arg) c.1724A>G (p.Gln575Arg) c.1865A>G (p.Gln622Arg) n.2040A>G | |
1 | g.247425308A>T | CA345557978 | NLRP3 | c.1859A>T (p.Gln620Leu) c.1724A>T (p.Gln575Leu) c.1865A>T (p.Gln622Leu) n.2040A>T | |
1 | g.247425309G>A | CA424582905 | NLRP3 | c.1860G>A (p.Gln620=) c.1725G>A (p.Gln575=) c.1866G>A (p.Gln622=) n.2041G>A | |
1 | g.247425309G>C | CA345557979 | NLRP3 | c.1860G>C (p.Gln620His) c.1725G>C (p.Gln575His) c.1866G>C (p.Gln622His) n.2041G>C | |
1 | g.247425309G>T | CA345557980 | NLRP3 | c.1860G>T (p.Gln620His) c.1725G>T (p.Gln575His) c.1866G>T (p.Gln622His) n.2041G>T | |
1 | g.247425310A>C | CA345557981 | NLRP3 | c.1861A>C (p.Ile621Leu) c.1726A>C (p.Ile576Leu) c.1867A>C (p.Ile623Leu) n.2042A>C | |
1 | g.247425310A>G | CA345557982 | NLRP3 | c.1861A>G (p.Ile621Val) c.1726A>G (p.Ile576Val) c.1867A>G (p.Ile623Val) n.2042A>G | |
1 | g.247425310A>T | CA345557983 | NLRP3 | c.1861A>T (p.Ile621Phe) c.1726A>T (p.Ile576Phe) c.1867A>T (p.Ile623Phe) n.2042A>T | |
1 | g.247425311T>A | CA345557984 | NLRP3 | c.1862T>A (p.Ile621Asn) c.1727T>A (p.Ile576Asn) c.1868T>A (p.Ile623Asn) n.2043T>A | |
1 | g.247425311T>C | CA40692287 | NLRP3 | c.1862T>C (p.Ile621Thr) c.1727T>C (p.Ile576Thr) c.1868T>C (p.Ile623Thr) n.2043T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425311T>G | CA345557985 | NLRP3 | c.1862T>G (p.Ile621Ser) c.1727T>G (p.Ile576Ser) c.1868T>G (p.Ile623Ser) n.2043T>G | |
1 | g.247425311T= | CA1232099026 | NLRP3 | c.1862T= (p.Ile621=) c.1727T= (p.Ile576=) c.1868T= (p.Ile623=) n.2043T= | |
1 | g.247425312C>A | CA424582909 | NLRP3 | c.1863C>A (p.Ile621=) c.1728C>A (p.Ile576=) c.1869C>A (p.Ile623=) n.2044C>A | |
1 | g.247425312C>G | CA345557986 | NLRP3 | c.1863C>G (p.Ile621Met) c.1728C>G (p.Ile576Met) c.1869C>G (p.Ile623Met) n.2044C>G | |
1 | g.247425312C>T | CA424582910 | NLRP3 | c.1863C>T (p.Ile621=) c.1728C>T (p.Ile576=) c.1869C>T (p.Ile623=) n.2044C>T | gnomAD v4 COSMIC |
1 | g.247425313C>A | CA345557987 | NLRP3 | c.1864C>A (p.Gln622Lys) c.1729C>A (p.Gln577Lys) c.1870C>A (p.Gln624Lys) n.2045C>A | |
1 | g.247425313C>G | CA345557989 | NLRP3 | c.1864C>G (p.Gln622Glu) c.1729C>G (p.Gln577Glu) c.1870C>G (p.Gln624Glu) n.2045C>G | |
1 | g.247425313C>T | CA345557988 | NLRP3 | c.1864C>T (p.Gln622Ter) c.1729C>T (p.Gln577Ter) c.1870C>T (p.Gln624Ter) n.2045C>T | |
1 | g.247425314A>C | CA345557990 | NLRP3 | c.1865A>C (p.Gln622Pro) c.1730A>C (p.Gln577Pro) c.1871A>C (p.Gln624Pro) n.2046A>C | |
1 | g.247425314A>G | CA345557991 | NLRP3 | c.1865A>G (p.Gln622Arg) c.1730A>G (p.Gln577Arg) c.1871A>G (p.Gln624Arg) n.2046A>G | |
1 | g.247425314A>T | CA345557992 | NLRP3 | c.1865A>T (p.Gln622Leu) c.1730A>T (p.Gln577Leu) c.1871A>T (p.Gln624Leu) n.2046A>T | |
1 | g.247425315G>A | CA424582914 | NLRP3 | c.1866G>A (p.Gln622=) c.1731G>A (p.Gln577=) c.1872G>A (p.Gln624=) n.2047G>A | |
1 | g.247425315G>C | CA1495077 | NLRP3 | c.1866G>C (p.Gln622His) c.1731G>C (p.Gln577His) c.1872G>C (p.Gln624His) n.2047G>C | dbSNP ExAC gnomAD v2 |
1 | g.247425315G= | CA1143504257 | NLRP3 | c.1866G= (p.Gln622=) c.1731G= (p.Gln577=) c.1872G= (p.Gln624=) n.2047G= | |
1 | g.247425315G>T | CA345557993 | NLRP3 | c.1866G>T (p.Gln622His) c.1731G>T (p.Gln577His) c.1872G>T (p.Gln624His) n.2047G>T | |
1 | g.247425316C>A | CA345557994 | NLRP3 | c.1867C>A (p.Pro623Thr) c.1732C>A (p.Pro578Thr) c.1873C>A (p.Pro625Thr) n.2048C>A | |
1 | g.247425316C= | CA1232099029 | NLRP3 | c.1867C= (p.Pro623=) c.1732C= (p.Pro578=) c.1873C= (p.Pro625=) n.2048C= | |
1 | g.247425316C>G | CA345557995 | NLRP3 | c.1867C>G (p.Pro623Ala) c.1732C>G (p.Pro578Ala) c.1873C>G (p.Pro625Ala) n.2048C>G | |
1 | g.247425316C>T | CA345557996 | NLRP3 | c.1867C>T (p.Pro623Ser) c.1732C>T (p.Pro578Ser) c.1873C>T (p.Pro625Ser) n.2048C>T | dbSNP gnomAD v2 |
1 | g.247425317C>A | CA345557997 | NLRP3 | c.1868C>A (p.Pro623His) c.1733C>A (p.Pro578His) c.1874C>A (p.Pro625His) n.2049C>A | dbSNP gnomAD v2 COSMIC |
1 | g.247425317C= | CA1232099033 | NLRP3 | c.1868C= (p.Pro623=) c.1733C= (p.Pro578=) c.1874C= (p.Pro625=) n.2049C= | |
1 | g.247425317C>G | CA345557998 | NLRP3 | c.1868C>G (p.Pro623Arg) c.1733C>G (p.Pro578Arg) c.1874C>G (p.Pro625Arg) n.2049C>G | |
1 | g.247425317C>T | CA345557999 | NLRP3 | c.1868C>T (p.Pro623Leu) c.1733C>T (p.Pro578Leu) c.1874C>T (p.Pro625Leu) n.2049C>T | COSMIC |
1 | g.247425322_247425325del | CA1014489555 | NLRP3 | c.1873_1876del (p.Gln625TrpfsTer?) c.1738_1741del (p.Gln580TrpfsTer?) c.1879_1882del (p.Gln627TrpfsTer?) n.2054_2057del | gnomAD v3 gnomAD v4 |
1 | g.247425318C>A | CA424582915 | NLRP3 | c.1869C>A (p.Pro623=) c.1734C>A (p.Pro578=) c.1875C>A (p.Pro625=) n.2050C>A | |
1 | g.247425318C= | CA1232099036 | NLRP3 | c.1869C= (p.Pro623=) c.1734C= (p.Pro578=) c.1875C= (p.Pro625=) n.2050C= | |
1 | g.247425318C>G | CA424582916 | NLRP3 | c.1869C>G (p.Pro623=) c.1734C>G (p.Pro578=) c.1875C>G (p.Pro625=) n.2050C>G | |
1 | g.247425318C>T | CA1495078 | NLRP3 | c.1869C>T (p.Pro623=) c.1734C>T (p.Pro578=) c.1875C>T (p.Pro625=) n.2050C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425319A>C | CA345558002 | NLRP3 | c.1870A>C (p.Ser624Arg) c.1735A>C (p.Ser579Arg) c.1876A>C (p.Ser626Arg) n.2051A>C | |
1 | g.247425319A>G | CA345558001 | NLRP3 | c.1870A>G (p.Ser624Gly) c.1735A>G (p.Ser579Gly) c.1876A>G (p.Ser626Gly) n.2051A>G | gnomAD v4 |
1 | g.247425319A>T | CA345558000 | NLRP3 | c.1870A>T (p.Ser624Cys) c.1735A>T (p.Ser579Cys) c.1876A>T (p.Ser626Cys) n.2051A>T | |
1 | g.247425320G>A | CA345558003 | NLRP3 | c.1871G>A (p.Ser624Asn) c.1736G>A (p.Ser579Asn) c.1877G>A (p.Ser626Asn) n.2052G>A | |
1 | g.247425320G>C | CA345558004 | NLRP3 | c.1871G>C (p.Ser624Thr) c.1736G>C (p.Ser579Thr) c.1877G>C (p.Ser626Thr) n.2052G>C | |
1 | g.247425320G>T | CA345558005 | NLRP3 | c.1871G>T (p.Ser624Ile) c.1736G>T (p.Ser579Ile) c.1877G>T (p.Ser626Ile) n.2052G>T | |
1 | g.247425321C>A | CA345558006 | NLRP3 | c.1872C>A (p.Ser624Arg) c.1737C>A (p.Ser579Arg) c.1878C>A (p.Ser626Arg) n.2053C>A | COSMIC |
1 | g.247425321C= | CA1232099038 | NLRP3 | c.1872C= (p.Ser624=) c.1737C= (p.Ser579=) c.1878C= (p.Ser626=) n.2053C= | |
1 | g.247425321C>G | CA345558007 | NLRP3 | c.1872C>G (p.Ser624Arg) c.1737C>G (p.Ser579Arg) c.1878C>G (p.Ser626Arg) n.2053C>G | |
1 | g.247425321C>T | CA424582920 | NLRP3 | c.1872C>T (p.Ser624=) c.1737C>T (p.Ser579=) c.1878C>T (p.Ser626=) n.2053C>T | dbSNP |
1 | g.247425322C>A | CA345558008 | NLRP3 | c.1873C>A (p.Gln625Lys) c.1738C>A (p.Gln580Lys) c.1879C>A (p.Gln627Lys) n.2054C>A | COSMIC |
1 | g.247425322C>G | CA345558009 | NLRP3 | c.1873C>G (p.Gln625Glu) c.1738C>G (p.Gln580Glu) c.1879C>G (p.Gln627Glu) n.2054C>G | |
1 | g.247425322C>T | CA345558010 | NLRP3 | c.1873C>T (p.Gln625Ter) c.1738C>T (p.Gln580Ter) c.1879C>T (p.Gln627Ter) n.2054C>T | |
1 | g.247425323A>C | CA345558011 | NLRP3 | c.1874A>C (p.Gln625Pro) c.1739A>C (p.Gln580Pro) c.1880A>C (p.Gln627Pro) n.2055A>C | |
1 | g.247425323A>G | CA345558012 | NLRP3 | c.1874A>G (p.Gln625Arg) c.1739A>G (p.Gln580Arg) c.1880A>G (p.Gln627Arg) n.2055A>G | COSMIC |
1 | g.247425323A>T | CA345558013 | NLRP3 | c.1874A>T (p.Gln625Leu) c.1739A>T (p.Gln580Leu) c.1880A>T (p.Gln627Leu) n.2055A>T | |
1 | g.247425324G>A | CA424582922 | NLRP3 | c.1875G>A (p.Gln625=) c.1740G>A (p.Gln580=) c.1881G>A (p.Gln627=) n.2056G>A | |
1 | g.247425324G>C | CA345558014 | NLRP3 | c.1875G>C (p.Gln625His) c.1740G>C (p.Gln580His) c.1881G>C (p.Gln627His) n.2056G>C | |
1 | g.247425324G>T | CA345558015 | NLRP3 | c.1875G>T (p.Gln625His) c.1740G>T (p.Gln580His) c.1881G>T (p.Gln627His) n.2056G>T | |
1 | g.247425325C>A | CA345558017 | NLRP3 | c.1876C>A (p.Leu626Met) c.1741C>A (p.Leu581Met) c.1882C>A (p.Leu628Met) n.2057C>A | |
1 | g.247425325C>G | CA345558016 | NLRP3 | c.1876C>G (p.Leu626Val) c.1741C>G (p.Leu581Val) c.1882C>G (p.Leu628Val) n.2057C>G | |
1 | g.247425325C>T | CA424582923 | NLRP3 | c.1876C>T (p.Leu626=) c.1741C>T (p.Leu581=) c.1882C>T (p.Leu628=) n.2057C>T | |
1 | g.247425326T>A | CA345558018 | NLRP3 | c.1877T>A (p.Leu626Gln) c.1742T>A (p.Leu581Gln) c.1883T>A (p.Leu628Gln) n.2058T>A | |
1 | g.247425326T>C | CA345558020 | NLRP3 | c.1877T>C (p.Leu626Pro) c.1742T>C (p.Leu581Pro) c.1883T>C (p.Leu628Pro) n.2058T>C | |
1 | g.247425326T>G | CA345558019 | NLRP3 | c.1877T>G (p.Leu626Arg) c.1742T>G (p.Leu581Arg) c.1883T>G (p.Leu628Arg) n.2058T>G | |
1 | g.247425327G>A | CA424582927 | NLRP3 | c.1878G>A (p.Leu626=) c.1743G>A (p.Leu581=) c.1884G>A (p.Leu628=) n.2059G>A | |
1 | g.247425327G>C | CA424582928 | NLRP3 | c.1878G>C (p.Leu626=) c.1743G>C (p.Leu581=) c.1884G>C (p.Leu628=) n.2059G>C | |
1 | g.247425327G>T | CA424582929 | NLRP3 | c.1878G>T (p.Leu626=) c.1743G>T (p.Leu581=) c.1884G>T (p.Leu628=) n.2059G>T | |
1 | g.247425328G>A | CA345558021 | NLRP3 | c.1879G>A (p.Glu627Lys) c.1744G>A (p.Glu582Lys) c.1885G>A (p.Glu629Lys) n.2060G>A | COSMIC |
1 | g.247425328G>C | CA345558022 | NLRP3 | c.1879G>C (p.Glu627Gln) c.1744G>C (p.Glu582Gln) c.1885G>C (p.Glu629Gln) n.2060G>C | |
1 | g.247425328G>T | CA345558023 | NLRP3 | c.1879G>T (p.Glu627Ter) c.1744G>T (p.Glu582Ter) c.1885G>T (p.Glu629Ter) n.2060G>T | |
1 | g.247425329A= | CA1141581529 | NLRP3 | c.1880A= (p.Glu627=) c.1745A= (p.Glu582=) c.1886A= (p.Glu629=) n.2061A= | |
1 | g.247425329A>C | CA345558024 | NLRP3 | c.1880A>C (p.Glu627Ala) c.1745A>C (p.Glu582Ala) c.1886A>C (p.Glu629Ala) n.2061A>C | |
1 | g.247425329A>G | CA280966 | NLRP3 | c.1880A>G (p.Glu627Gly) c.1745A>G (p.Glu582Gly) c.1886A>G (p.Glu629Gly) n.2061A>G | ClinVar dbSNP |
1 | g.247425329A>T | CA345558025 | NLRP3 | c.1880A>T (p.Glu627Val) c.1745A>T (p.Glu582Val) c.1886A>T (p.Glu629Val) n.2061A>T | |
1 | g.247425330A>C | CA345558026 | NLRP3 | c.1881A>C (p.Glu627Asp) c.1746A>C (p.Glu582Asp) c.1887A>C (p.Glu629Asp) n.2062A>C | |
1 | g.247425330A>G | CA424582933 | NLRP3 | c.1881A>G (p.Glu627=) c.1746A>G (p.Glu582=) c.1887A>G (p.Glu629=) n.2062A>G | |
1 | g.247425330A>T | CA345558027 | NLRP3 | c.1881A>T (p.Glu627Asp) c.1746A>T (p.Glu582Asp) c.1887A>T (p.Glu629Asp) n.2062A>T | COSMIC |
1 | g.247425331T>A | CA345558028 | NLRP3 | c.1882T>A (p.Leu628Met) c.1747T>A (p.Leu583Met) c.1888T>A (p.Leu630Met) n.2063T>A | |
1 | g.247425331T>C | CA424582935 | NLRP3 | c.1882T>C (p.Leu628=) c.1747T>C (p.Leu583=) c.1888T>C (p.Leu630=) n.2063T>C | dbSNP |
1 | g.247425331T>G | CA345558029 | NLRP3 | c.1882T>G (p.Leu628Val) c.1747T>G (p.Leu583Val) c.1888T>G (p.Leu630Val) n.2063T>G | |
1 | g.247425331T= | CA1232099045 | NLRP3 | c.1882T= (p.Leu628=) c.1747T= (p.Leu583=) c.1888T= (p.Leu630=) n.2063T= | |
1 | g.247425332T>A | CA345558030 | NLRP3 | c.1883T>A (p.Leu628Ter) c.1748T>A (p.Leu583Ter) c.1889T>A (p.Leu630Ter) n.2064T>A | |
1 | g.247425332T>C | CA345558031 | NLRP3 | c.1883T>C (p.Leu628Ser) c.1748T>C (p.Leu583Ser) c.1889T>C (p.Leu630Ser) n.2064T>C | |
1 | g.247425332T>G | CA345558032 | NLRP3 | c.1883T>G (p.Leu628Trp) c.1748T>G (p.Leu583Trp) c.1889T>G (p.Leu630Trp) n.2064T>G | |
1 | g.247425333G>A | CA40692299 | NLRP3 | c.1884G>A (p.Leu628=) c.1749G>A (p.Leu583=) c.1890G>A (p.Leu630=) n.2065G>A | ClinVar dbSNP gnomAD v4 |
1 | g.247425333G>C | CA345558033 | NLRP3 | c.1884G>C (p.Leu628Phe) c.1749G>C (p.Leu583Phe) c.1890G>C (p.Leu630Phe) n.2065G>C | |
1 | g.247425333G= | CA1232099048 | NLRP3 | c.1884G= (p.Leu628=) c.1749G= (p.Leu583=) c.1890G= (p.Leu630=) n.2065G= | |
1 | g.247425333G>T | CA345558034 | NLRP3 | c.1884G>T (p.Leu628Phe) c.1749G>T (p.Leu583Phe) c.1890G>T (p.Leu630Phe) n.2065G>T | dbSNP gnomAD v4 COSMIC |
1 | g.247425334T>A | CA345558035 | NLRP3 | c.1885T>A (p.Phe629Ile) c.1750T>A (p.Phe584Ile) c.1891T>A (p.Phe631Ile) n.2066T>A | |
1 | g.247425334T>C | CA345558036 | NLRP3 | c.1885T>C (p.Phe629Leu) c.1750T>C (p.Phe584Leu) c.1891T>C (p.Phe631Leu) n.2066T>C | |
1 | g.247425334T>G | CA345558037 | NLRP3 | c.1885T>G (p.Phe629Val) c.1750T>G (p.Phe584Val) c.1891T>G (p.Phe631Val) n.2066T>G | |
1 | g.247425335T>A | CA345558038 | NLRP3 | c.1886T>A (p.Phe629Tyr) c.1751T>A (p.Phe584Tyr) c.1892T>A (p.Phe631Tyr) n.2067T>A | |
1 | g.247425335T>C | CA345558039 | NLRP3 | c.1886T>C (p.Phe629Ser) c.1751T>C (p.Phe584Ser) c.1892T>C (p.Phe631Ser) n.2067T>C | |
1 | g.247425335T>G | CA345558040 | NLRP3 | c.1886T>G (p.Phe629Cys) c.1751T>G (p.Phe584Cys) c.1892T>G (p.Phe631Cys) n.2067T>G | |
1 | g.247425336C>A | CA345558041 | NLRP3 | c.1887C>A (p.Phe629Leu) c.1752C>A (p.Phe584Leu) c.1893C>A (p.Phe631Leu) n.2068C>A | |
1 | g.247425336C= | CA1232099050 | NLRP3 | c.1887C= (p.Phe629=) c.1752C= (p.Phe584=) c.1893C= (p.Phe631=) n.2068C= | |
1 | g.247425336C>G | CA345558042 | NLRP3 | c.1887C>G (p.Phe629Leu) c.1752C>G (p.Phe584Leu) c.1893C>G (p.Phe631Leu) n.2068C>G | |
1 | g.247425336C>T | CA424582939 | NLRP3 | c.1887C>T (p.Phe629=) c.1752C>T (p.Phe584=) c.1893C>T (p.Phe631=) n.2068C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425337T>A | CA345558043 | NLRP3 | c.1888T>A (p.Tyr630Asn) c.1753T>A (p.Tyr585Asn) c.1894T>A (p.Tyr632Asn) n.2069T>A | |
1 | g.247425337T>C | CA345558044 | NLRP3 | c.1888T>C (p.Tyr630His) c.1753T>C (p.Tyr585His) c.1894T>C (p.Tyr632His) n.2069T>C | ClinVar |
1 | g.247425337T>G | CA345558045 | NLRP3 | c.1888T>G (p.Tyr630Asp) c.1753T>G (p.Tyr585Asp) c.1894T>G (p.Tyr632Asp) n.2069T>G | |
1 | g.247425338A= | CA1232099051 | NLRP3 | c.1889A= (p.Tyr630=) c.1754A= (p.Tyr585=) c.1895A= (p.Tyr632=) n.2070A= | |
1 | g.247425338A>C | CA345558047 | NLRP3 | c.1889A>C (p.Tyr630Ser) c.1754A>C (p.Tyr585Ser) c.1895A>C (p.Tyr632Ser) n.2070A>C | |
1 | g.247425338A>G | CA345558048 | NLRP3 | c.1889A>G (p.Tyr630Cys) c.1754A>G (p.Tyr585Cys) c.1895A>G (p.Tyr632Cys) n.2070A>G | |
1 | g.247425338A>T | CA345558046 | NLRP3 | c.1889A>T (p.Tyr630Phe) c.1754A>T (p.Tyr585Phe) c.1895A>T (p.Tyr632Phe) n.2070A>T | ClinVar dbSNP gnomAD v4 |
1 | g.247425339C>A | CA345558049 | NLRP3 | c.1890C>A (p.Tyr630Ter) c.1755C>A (p.Tyr585Ter) c.1896C>A (p.Tyr632Ter) n.2071C>A | |
1 | g.247425339C>G | CA345558050 | NLRP3 | c.1890C>G (p.Tyr630Ter) c.1755C>G (p.Tyr585Ter) c.1896C>G (p.Tyr632Ter) n.2071C>G | |
1 | g.247425339C>T | CA424582941 | NLRP3 | c.1890C>T (p.Tyr630=) c.1755C>T (p.Tyr585=) c.1896C>T (p.Tyr632=) n.2071C>T | gnomAD v4 |
1 | g.247425340T>A | CA345558051 | NLRP3 | c.1891T>A (p.Cys631Ser) c.1756T>A (p.Cys586Ser) c.1897T>A (p.Cys633Ser) n.2072T>A | |
1 | g.247425340T>C | CA345558052 | NLRP3 | c.1891T>C (p.Cys631Arg) c.1756T>C (p.Cys586Arg) c.1897T>C (p.Cys633Arg) n.2072T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425340T>G | CA345558053 | NLRP3 | c.1891T>G (p.Cys631Gly) c.1756T>G (p.Cys586Gly) c.1897T>G (p.Cys633Gly) n.2072T>G | |
1 | g.247425340T= | CA1232099055 | NLRP3 | c.1891T= (p.Cys631=) c.1756T= (p.Cys586=) c.1897T= (p.Cys633=) n.2072T= | |
1 | g.247425341G>A | CA345558054 | NLRP3 | c.1892G>A (p.Cys631Tyr) c.1757G>A (p.Cys586Tyr) c.1898G>A (p.Cys633Tyr) n.2073G>A | gnomAD v4 COSMIC |
1 | g.247425341G>C | CA345558055 | NLRP3 | c.1892G>C (p.Cys631Ser) c.1757G>C (p.Cys586Ser) c.1898G>C (p.Cys633Ser) n.2073G>C | |
1 | g.247425341G>T | CA345558056 | NLRP3 | c.1892G>T (p.Cys631Phe) c.1757G>T (p.Cys586Phe) c.1898G>T (p.Cys633Phe) n.2073G>T | |
1 | g.247425342T>A | CA345558057 | NLRP3 | c.1893T>A (p.Cys631Ter) c.1758T>A (p.Cys586Ter) c.1899T>A (p.Cys633Ter) n.2074T>A | |
1 | g.247425342T>C | CA424582944 | NLRP3 | c.1893T>C (p.Cys631=) c.1758T>C (p.Cys586=) c.1899T>C (p.Cys633=) n.2074T>C | |
1 | g.247425342T>G | CA345558058 | NLRP3 | c.1893T>G (p.Cys631Trp) c.1758T>G (p.Cys586Trp) c.1899T>G (p.Cys633Trp) n.2074T>G | |
1 | g.247425344del | CA2651421234 | NLRP3 | c.1895del (p.Leu632CysfsTer?) c.1760del (p.Leu587CysfsTer?) c.1901del (p.Leu634CysfsTer?) n.2076del | gnomAD v4 |