Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247425384G>A | CA345558214 | NLRP3 | c.1935G>A (p.Met645Ile) c.1800G>A (p.Met600Ile) c.1941G>A (p.Met647Ile) n.2116G>A | |
1 | g.247425384G>C | CA345558215 | NLRP3 | c.1935G>C (p.Met645Ile) c.1800G>C (p.Met600Ile) c.1941G>C (p.Met647Ile) n.2116G>C | |
1 | g.247425384G>T | CA345558216 | NLRP3 | c.1935G>T (p.Met645Ile) c.1800G>T (p.Met600Ile) c.1941G>T (p.Met647Ile) n.2116G>T | |
1 | g.247425385G>A | CA345558219 | NLRP3 | c.1936G>A (p.Asp646Asn) c.1801G>A (p.Asp601Asn) c.1942G>A (p.Asp648Asn) n.2117G>A | |
1 | g.247425385G>C | CA345558220 | NLRP3 | c.1936G>C (p.Asp646His) c.1801G>C (p.Asp601His) c.1942G>C (p.Asp648His) n.2117G>C | |
1 | g.247425385G= | CA1141594385 | NLRP3 | c.1936G= (p.Asp646=) c.1801G= (p.Asp601=) c.1942G= (p.Asp648=) n.2117G= | |
1 | g.247425385G>T | CA1495090 | NLRP3 | c.1936G>T (p.Asp646Tyr) c.1801G>T (p.Asp601Tyr) c.1942G>T (p.Asp648Tyr) n.2117G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425386A= | CA1232099138 | NLRP3 | c.1937A= (p.Asp646=) c.1802A= (p.Asp601=) c.1943A= (p.Asp648=) n.2118A= | |
1 | g.247425386A>C | CA345558223 | NLRP3 | c.1937A>C (p.Asp646Ala) c.1802A>C (p.Asp601Ala) c.1943A>C (p.Asp648Ala) n.2118A>C | gnomAD v4 |
1 | g.247425386A>G | CA345558224 | NLRP3 | c.1937A>G (p.Asp646Gly) c.1802A>G (p.Asp601Gly) c.1943A>G (p.Asp648Gly) n.2118A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425386A>T | CA345558226 | NLRP3 | c.1937A>T (p.Asp646Val) c.1802A>T (p.Asp601Val) c.1943A>T (p.Asp648Val) n.2118A>T | gnomAD v4 |
1 | g.247425387C>A | CA345558228 | NLRP3 | c.1938C>A (p.Asp646Glu) c.1803C>A (p.Asp601Glu) c.1944C>A (p.Asp648Glu) n.2119C>A | |
1 | g.247425387C>G | CA345558230 | NLRP3 | c.1938C>G (p.Asp646Glu) c.1803C>G (p.Asp601Glu) c.1944C>G (p.Asp648Glu) n.2119C>G | gnomAD v4 |
1 | g.247425387C>T | CA424582967 | NLRP3 | c.1938C>T (p.Asp646=) c.1803C>T (p.Asp601=) c.1944C>T (p.Asp648=) n.2119C>T | gnomAD v4 |
1 | g.247425388T>A | CA345558234 | NLRP3 | c.1939T>A (p.Tyr647Asn) c.1804T>A (p.Tyr602Asn) c.1945T>A (p.Tyr649Asn) n.2120T>A | ClinVar dbSNP COSMIC |
1 | g.247425388T>C | CA345558237 | NLRP3 | c.1939T>C (p.Tyr647His) c.1804T>C (p.Tyr602His) c.1945T>C (p.Tyr649His) n.2120T>C | gnomAD v4 |
1 | g.247425388T>G | CA345558233 | NLRP3 | c.1939T>G (p.Tyr647Asp) c.1804T>G (p.Tyr602Asp) c.1945T>G (p.Tyr649Asp) n.2120T>G | |
1 | g.247425389_247425390dup | CA2651421393 | NLRP3 | c.1940_1941dup (p.Phe648IlefsTer?) c.1805_1806dup (p.Phe603IlefsTer?) c.1946_1947dup (p.Phe650IlefsTer?) n.2121_2122dup | gnomAD v4 |
1 | g.247425389A>C | CA345558239 | NLRP3 | c.1940A>C (p.Tyr647Ser) c.1805A>C (p.Tyr602Ser) c.1946A>C (p.Tyr649Ser) n.2121A>C | |
1 | g.247425389A>G | CA345558241 | NLRP3 | c.1940A>G (p.Tyr647Cys) c.1805A>G (p.Tyr602Cys) c.1946A>G (p.Tyr649Cys) n.2121A>G | gnomAD v4 |
1 | g.247425389A>T | CA345558243 | NLRP3 | c.1940A>T (p.Tyr647Phe) c.1805A>T (p.Tyr602Phe) c.1946A>T (p.Tyr649Phe) n.2121A>T | |
1 | g.247425390T>A | CA345558245 | NLRP3 | c.1941T>A (p.Tyr647Ter) c.1806T>A (p.Tyr602Ter) c.1947T>A (p.Tyr649Ter) n.2122T>A | |
1 | g.247425390T>C | CA424582968 | NLRP3 | c.1941T>C (p.Tyr647=) c.1806T>C (p.Tyr602=) c.1947T>C (p.Tyr649=) n.2122T>C | dbSNP |
1 | g.247425390T>G | CA345558247 | NLRP3 | c.1941T>G (p.Tyr647Ter) c.1806T>G (p.Tyr602Ter) c.1947T>G (p.Tyr649Ter) n.2122T>G | |
1 | g.247425390T= | CA1232099139 | NLRP3 | c.1941T= (p.Tyr647=) c.1806T= (p.Tyr602=) c.1947T= (p.Tyr649=) n.2122T= | |
1 | g.247425391T>A | CA345558253 | NLRP3 | c.1942T>A (p.Phe648Ile) c.1807T>A (p.Phe603Ile) c.1948T>A (p.Phe650Ile) n.2123T>A | |
1 | g.247425391T>C | CA345558249 | NLRP3 | c.1942T>C (p.Phe648Leu) c.1807T>C (p.Phe603Leu) c.1948T>C (p.Phe650Leu) n.2123T>C | |
1 | g.247425391T>G | CA345558251 | NLRP3 | c.1942T>G (p.Phe648Val) c.1807T>G (p.Phe603Val) c.1948T>G (p.Phe650Val) n.2123T>G | |
1 | g.247425392T>A | CA345558255 | NLRP3 | c.1943T>A (p.Phe648Tyr) c.1808T>A (p.Phe603Tyr) c.1949T>A (p.Phe650Tyr) n.2124T>A | |
1 | g.247425392T>C | CA345558257 | NLRP3 | c.1943T>C (p.Phe648Ser) c.1808T>C (p.Phe603Ser) c.1949T>C (p.Phe650Ser) n.2124T>C | |
1 | g.247425392T>G | CA345558259 | NLRP3 | c.1943T>G (p.Phe648Cys) c.1808T>G (p.Phe603Cys) c.1949T>G (p.Phe650Cys) n.2124T>G | |
1 | g.247425393C>A | CA345558261 | NLRP3 | c.1944C>A (p.Phe648Leu) c.1809C>A (p.Phe603Leu) c.1950C>A (p.Phe650Leu) n.2125C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425393C= | CA1232099140 | NLRP3 | c.1944C= (p.Phe648=) c.1809C= (p.Phe603=) c.1950C= (p.Phe650=) n.2125C= | |
1 | g.247425393C>G | CA345558262 | NLRP3 | c.1944C>G (p.Phe648Leu) c.1809C>G (p.Phe603Leu) c.1950C>G (p.Phe650Leu) n.2125C>G | |
1 | g.247425393C>T | CA424582969 | NLRP3 | c.1944C>T (p.Phe648=) c.1809C>T (p.Phe603=) c.1950C>T (p.Phe650=) n.2125C>T | COSMIC |
1 | g.247425394C>A | CA345558263 | NLRP3 | c.1945C>A (p.Pro649Thr) c.1810C>A (p.Pro604Thr) c.1951C>A (p.Pro651Thr) n.2126C>A | |
1 | g.247425394C>G | CA345558266 | NLRP3 | c.1945C>G (p.Pro649Ala) c.1810C>G (p.Pro604Ala) c.1951C>G (p.Pro651Ala) n.2126C>G | |
1 | g.247425394C>T | CA345558265 | NLRP3 | c.1945C>T (p.Pro649Ser) c.1810C>T (p.Pro604Ser) c.1951C>T (p.Pro651Ser) n.2126C>T | gnomAD v4 COSMIC |
1 | g.247425395C>A | CA345558267 | NLRP3 | c.1946C>A (p.Pro649His) c.1811C>A (p.Pro604His) c.1952C>A (p.Pro651His) n.2127C>A | COSMIC |
1 | g.247425395C= | CA1232099144 | NLRP3 | c.1946C= (p.Pro649=) c.1811C= (p.Pro604=) c.1952C= (p.Pro651=) n.2127C= | |
1 | g.247425395C>G | CA345558269 | NLRP3 | c.1946C>G (p.Pro649Arg) c.1811C>G (p.Pro604Arg) c.1952C>G (p.Pro651Arg) n.2127C>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425395C>T | CA345558272 | NLRP3 | c.1946C>T (p.Pro649Leu) c.1811C>T (p.Pro604Leu) c.1952C>T (p.Pro651Leu) n.2127C>T | ClinVar dbSNP gnomAD v4 |
1 | g.247425396C>A | CA424582970 | NLRP3 | c.1947C>A (p.Pro649=) c.1812C>A (p.Pro604=) c.1953C>A (p.Pro651=) n.2128C>A | |
1 | g.247425396C= | CA1232099148 | NLRP3 | c.1947C= (p.Pro649=) c.1812C= (p.Pro604=) c.1953C= (p.Pro651=) n.2128C= | |
1 | g.247425396C>G | CA1495091 | NLRP3 | c.1947C>G (p.Pro649=) c.1812C>G (p.Pro604=) c.1953C>G (p.Pro651=) n.2128C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425396C>T | CA424582971 | NLRP3 | c.1947C>T (p.Pro649=) c.1812C>T (p.Pro604=) c.1953C>T (p.Pro651=) n.2128C>T | ClinVar |
1 | g.247425397A= | CA1148403817 | NLRP3 | c.1948A= (p.Lys650=) c.1813A= (p.Lys605=) c.1954A= (p.Lys652=) n.2129A= | |
1 | g.247425397A>C | CA345558275 | NLRP3 | c.1948A>C (p.Lys650Gln) c.1813A>C (p.Lys605Gln) c.1954A>C (p.Lys652Gln) n.2129A>C | |
1 | g.247425397A>G | CA1495092 | NLRP3 | c.1948A>G (p.Lys650Glu) c.1813A>G (p.Lys605Glu) c.1954A>G (p.Lys652Glu) n.2129A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425397A>T | CA345558278 | NLRP3 | c.1948A>T (p.Lys650Ter) c.1813A>T (p.Lys605Ter) c.1954A>T (p.Lys652Ter) n.2129A>T | |
1 | g.247425398A= | CA1232099153 | NLRP3 | c.1949A= (p.Lys650=) c.1814A= (p.Lys605=) c.1955A= (p.Lys652=) n.2130A= | |
1 | g.247425398A>C | CA345558280 | NLRP3 | c.1949A>C (p.Lys650Thr) c.1814A>C (p.Lys605Thr) c.1955A>C (p.Lys652Thr) n.2130A>C | |
1 | g.247425398A>G | CA345558282 | NLRP3 | c.1949A>G (p.Lys650Arg) c.1814A>G (p.Lys605Arg) c.1955A>G (p.Lys652Arg) n.2130A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425398A>T | CA345558284 | NLRP3 | c.1949A>T (p.Lys650Met) c.1814A>T (p.Lys605Met) c.1955A>T (p.Lys652Met) n.2130A>T | |
1 | g.247425399G>A | CA424582972 | NLRP3 | c.1950G>A (p.Lys650=) c.1815G>A (p.Lys605=) c.1956G>A (p.Lys652=) n.2131G>A | COSMIC |
1 | g.247425399G>C | CA345558286 | NLRP3 | c.1950G>C (p.Lys650Asn) c.1815G>C (p.Lys605Asn) c.1956G>C (p.Lys652Asn) n.2131G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425399G= | CA1232099156 | NLRP3 | c.1950G= (p.Lys650=) c.1815G= (p.Lys605=) c.1956G= (p.Lys652=) n.2131G= | |
1 | g.247425399G>T | CA345558288 | NLRP3 | c.1950G>T (p.Lys650Asn) c.1815G>T (p.Lys605Asn) c.1956G>T (p.Lys652Asn) n.2131G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425400A>C | CA345558292 | NLRP3 | c.1951A>C (p.Ile651Leu) c.1816A>C (p.Ile606Leu) c.1957A>C (p.Ile653Leu) n.2132A>C | |
1 | g.247425400A>G | CA345558294 | NLRP3 | c.1951A>G (p.Ile651Val) c.1816A>G (p.Ile606Val) c.1957A>G (p.Ile653Val) n.2132A>G | gnomAD v4 |
1 | g.247425400A>T | CA345558290 | NLRP3 | c.1951A>T (p.Ile651Phe) c.1816A>T (p.Ile606Phe) c.1957A>T (p.Ile653Phe) n.2132A>T | |
1 | g.247425401T>A | CA345558297 | NLRP3 | c.1952T>A (p.Ile651Asn) c.1817T>A (p.Ile606Asn) c.1958T>A (p.Ile653Asn) n.2133T>A | |
1 | g.247425401T>C | CA345558295 | NLRP3 | c.1952T>C (p.Ile651Thr) c.1817T>C (p.Ile606Thr) c.1958T>C (p.Ile653Thr) n.2133T>C | ClinVar |
1 | g.247425401T>G | CA345558299 | NLRP3 | c.1952T>G (p.Ile651Ser) c.1817T>G (p.Ile606Ser) c.1958T>G (p.Ile653Ser) n.2133T>G | |
1 | g.247425402T>A | CA424582973 | NLRP3 | c.1953T>A (p.Ile651=) c.1818T>A (p.Ile606=) c.1959T>A (p.Ile653=) n.2134T>A | |
1 | g.247425402T>C | CA424582974 | NLRP3 | c.1953T>C (p.Ile651=) c.1818T>C (p.Ile606=) c.1959T>C (p.Ile653=) n.2134T>C | dbSNP |
1 | g.247425402T>G | CA345558301 | NLRP3 | c.1953T>G (p.Ile651Met) c.1818T>G (p.Ile606Met) c.1959T>G (p.Ile653Met) n.2134T>G | gnomAD v4 |
1 | g.247425403G>A | CA1495093 | NLRP3 | c.1954G>A (p.Glu652Lys) c.1819G>A (p.Glu607Lys) c.1960G>A (p.Glu654Lys) n.2135G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.247425403G>C | CA345558304 | NLRP3 | c.1954G>C (p.Glu652Gln) c.1819G>C (p.Glu607Gln) c.1960G>C (p.Glu654Gln) n.2135G>C | |
1 | g.247425403G= | CA1232099158 | NLRP3 | c.1954G= (p.Glu652=) c.1819G= (p.Glu607=) c.1960G= (p.Glu654=) n.2135G= | |
1 | g.247425403G>T | CA345558305 | NLRP3 | c.1954G>T (p.Glu652Ter) c.1819G>T (p.Glu607Ter) c.1960G>T (p.Glu654Ter) n.2135G>T | dbSNP |
1 | g.247425404A>C | CA345558308 | NLRP3 | c.1955A>C (p.Glu652Ala) c.1820A>C (p.Glu607Ala) c.1961A>C (p.Glu654Ala) n.2136A>C | |
1 | g.247425404A>G | CA345558310 | NLRP3 | c.1955A>G (p.Glu652Gly) c.1820A>G (p.Glu607Gly) c.1961A>G (p.Glu654Gly) n.2136A>G | |
1 | g.247425404A>T | CA345558311 | NLRP3 | c.1955A>T (p.Glu652Val) c.1820A>T (p.Glu607Val) c.1961A>T (p.Glu654Val) n.2136A>T | |
1 | g.247425405G>A | CA424582975 | NLRP3 | c.1956G>A (p.Glu652=) c.1821G>A (p.Glu607=) c.1962G>A (p.Glu654=) n.2137G>A | |
1 | g.247425405G>C | CA345558314 | NLRP3 | c.1956G>C (p.Glu652Asp) c.1821G>C (p.Glu607Asp) c.1962G>C (p.Glu654Asp) n.2137G>C | |
1 | g.247425405G>T | CA345558316 | NLRP3 | c.1956G>T (p.Glu652Asp) c.1821G>T (p.Glu607Asp) c.1962G>T (p.Glu654Asp) n.2137G>T | |
1 | g.247425406A= | CA1232099160 | NLRP3 | c.1957A= (p.Ile653=) c.1822A= (p.Ile608=) c.1963A= (p.Ile655=) n.2138A= | |
1 | g.247425406A>C | CA345558318 | NLRP3 | c.1957A>C (p.Ile653Leu) c.1822A>C (p.Ile608Leu) c.1963A>C (p.Ile655Leu) n.2138A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425406A>G | CA345558320 | NLRP3 | c.1957A>G (p.Ile653Val) c.1822A>G (p.Ile608Val) c.1963A>G (p.Ile655Val) n.2138A>G | |
1 | g.247425406A>T | CA345558322 | NLRP3 | c.1957A>T (p.Ile653Phe) c.1822A>T (p.Ile608Phe) c.1963A>T (p.Ile655Phe) n.2138A>T | |
1 | g.247425407T>A | CA345558327 | NLRP3 | c.1958T>A (p.Ile653Asn) c.1823T>A (p.Ile608Asn) c.1964T>A (p.Ile655Asn) n.2139T>A | |
1 | g.247425407T>C | CA40692365 | NLRP3 | c.1958T>C (p.Ile653Thr) c.1823T>C (p.Ile608Thr) c.1964T>C (p.Ile655Thr) n.2139T>C | dbSNP |
1 | g.247425407T>G | CA345558325 | NLRP3 | c.1958T>G (p.Ile653Ser) c.1823T>G (p.Ile608Ser) c.1964T>G (p.Ile655Ser) n.2139T>G | |
1 | g.247425407T= | CA1143461580 | NLRP3 | c.1958T= (p.Ile653=) c.1823T= (p.Ile608=) c.1964T= (p.Ile655=) n.2139T= | |
1 | g.247425408C>A | CA424582976 | NLRP3 | c.1959C>A (p.Ile653=) c.1824C>A (p.Ile608=) c.1965C>A (p.Ile655=) n.2140C>A | |
1 | g.247425408C= | CA1232099162 | NLRP3 | c.1959C= (p.Ile653=) c.1824C= (p.Ile608=) c.1965C= (p.Ile655=) n.2140C= | |
1 | g.247425408C>G | CA345558329 | NLRP3 | c.1959C>G (p.Ile653Met) c.1824C>G (p.Ile608Met) c.1965C>G (p.Ile655Met) n.2140C>G | |
1 | g.247425408C>T | CA424582977 | NLRP3 | c.1959C>T (p.Ile653=) c.1824C>T (p.Ile608=) c.1965C>T (p.Ile655=) n.2140C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425409A>C | CA345558331 | NLRP3 | c.1960A>C (p.Asn654His) c.1825A>C (p.Asn609His) c.1966A>C (p.Asn656His) n.2141A>C | |
1 | g.247425409A>G | CA345558333 | NLRP3 | c.1960A>G (p.Asn654Asp) c.1825A>G (p.Asn609Asp) c.1966A>G (p.Asn656Asp) n.2141A>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425409A>T | CA345558335 | NLRP3 | c.1960A>T (p.Asn654Tyr) c.1825A>T (p.Asn609Tyr) c.1966A>T (p.Asn656Tyr) n.2141A>T | |
1 | g.247425410A= | CA1232099166 | NLRP3 | c.1961A= (p.Asn654=) c.1826A= (p.Asn609=) c.1967A= (p.Asn656=) n.2142A= | |
1 | g.247425410A>C | CA345558338 | NLRP3 | c.1961A>C (p.Asn654Thr) c.1826A>C (p.Asn609Thr) c.1967A>C (p.Asn656Thr) n.2142A>C | |
1 | g.247425410A>G | CA345558339 | NLRP3 | c.1961A>G (p.Asn654Ser) c.1826A>G (p.Asn609Ser) c.1967A>G (p.Asn656Ser) n.2142A>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425410A>T | CA345558340 | NLRP3 | c.1961A>T (p.Asn654Ile) c.1826A>T (p.Asn609Ile) c.1967A>T (p.Asn656Ile) n.2142A>T | |
1 | g.247425411T>A | CA345558341 | NLRP3 | c.1962T>A (p.Asn654Lys) c.1827T>A (p.Asn609Lys) c.1968T>A (p.Asn656Lys) n.2143T>A | |
1 | g.247425411T>C | CA40692369 | NLRP3 | c.1962T>C (p.Asn654=) c.1827T>C (p.Asn609=) c.1968T>C (p.Asn656=) n.2143T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425411T>G | CA345558342 | NLRP3 | c.1962T>G (p.Asn654Lys) c.1827T>G (p.Asn609Lys) c.1968T>G (p.Asn656Lys) n.2143T>G | |
1 | g.247425411T= | CA1232099168 | NLRP3 | c.1962T= (p.Asn654=) c.1827T= (p.Asn609=) c.1968T= (p.Asn656=) n.2143T= | |
1 | g.247425412C>A | CA345558343 | NLRP3 | c.1963C>A (p.Leu655Ile) c.1828C>A (p.Leu610Ile) c.1969C>A (p.Leu657Ile) n.2144C>A | |
1 | g.247425412C>G | CA345558344 | NLRP3 | c.1963C>G (p.Leu655Val) c.1828C>G (p.Leu610Val) c.1969C>G (p.Leu657Val) n.2144C>G | gnomAD v4 |
1 | g.247425412C>T | CA345558345 | NLRP3 | c.1963C>T (p.Leu655Phe) c.1828C>T (p.Leu610Phe) c.1969C>T (p.Leu657Phe) n.2144C>T | gnomAD v4 |
1 | g.247425413T>A | CA345558351 | NLRP3 | c.1964T>A (p.Leu655His) c.1829T>A (p.Leu610His) c.1970T>A (p.Leu657His) n.2145T>A | |
1 | g.247425413T>C | CA345558349 | NLRP3 | c.1964T>C (p.Leu655Pro) c.1829T>C (p.Leu610Pro) c.1970T>C (p.Leu657Pro) n.2145T>C | |
1 | g.247425413T>G | CA345558347 | NLRP3 | c.1964T>G (p.Leu655Arg) c.1829T>G (p.Leu610Arg) c.1970T>G (p.Leu657Arg) n.2145T>G | |
1 | g.247425414C>A | CA424582979 | NLRP3 | c.1965C>A (p.Leu655=) c.1830C>A (p.Leu610=) c.1971C>A (p.Leu657=) n.2146C>A | |
1 | g.247425414C= | CA1144021753 | NLRP3 | c.1965C= (p.Leu655=) c.1830C= (p.Leu610=) c.1971C= (p.Leu657=) n.2146C= | |
1 | g.247425414C>G | CA40692379 | NLRP3 | c.1965C>G (p.Leu655=) c.1830C>G (p.Leu610=) c.1971C>G (p.Leu657=) n.2146C>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425414C>T | CA424582978 | NLRP3 | c.1965C>T (p.Leu655=) c.1830C>T (p.Leu610=) c.1971C>T (p.Leu657=) n.2146C>T | dbSNP gnomAD v4 |
1 | g.247425415T>A | CA1495094 | NLRP3 | c.1966T>A (p.Ser656Thr) c.1831T>A (p.Ser611Thr) c.1972T>A (p.Ser658Thr) n.2147T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425415T>C | CA345558355 | NLRP3 | c.1966T>C (p.Ser656Pro) c.1831T>C (p.Ser611Pro) c.1972T>C (p.Ser658Pro) n.2147T>C | gnomAD v4 |
1 | g.247425415T>G | CA345558357 | NLRP3 | c.1966T>G (p.Ser656Ala) c.1831T>G (p.Ser611Ala) c.1972T>G (p.Ser658Ala) n.2147T>G | |
1 | g.247425415T= | CA1232099174 | NLRP3 | c.1966T= (p.Ser656=) c.1831T= (p.Ser611=) c.1972T= (p.Ser658=) n.2147T= | |
1 | g.247425416C>A | CA345558359 | NLRP3 | c.1967C>A (p.Ser656Tyr) c.1832C>A (p.Ser611Tyr) c.1973C>A (p.Ser658Tyr) n.2148C>A | |
1 | g.247425416C>G | CA345558365 | NLRP3 | c.1967C>G (p.Ser656Cys) c.1832C>G (p.Ser611Cys) c.1973C>G (p.Ser658Cys) n.2148C>G | |
1 | g.247425416C>T | CA345558367 | NLRP3 | c.1967C>T (p.Ser656Phe) c.1832C>T (p.Ser611Phe) c.1973C>T (p.Ser658Phe) n.2148C>T | |
1 | g.247425417C>A | CA424582980 | NLRP3 | c.1968C>A (p.Ser656=) c.1833C>A (p.Ser611=) c.1974C>A (p.Ser658=) n.2149C>A | |
1 | g.247425417C= | CA1232099177 | NLRP3 | c.1968C= (p.Ser656=) c.1833C= (p.Ser611=) c.1974C= (p.Ser658=) n.2149C= | |
1 | g.247425417C>G | CA424582981 | NLRP3 | c.1968C>G (p.Ser656=) c.1833C>G (p.Ser611=) c.1974C>G (p.Ser658=) n.2149C>G | |
1 | g.247425417C>T | CA1495095 | NLRP3 | c.1968C>T (p.Ser656=) c.1833C>T (p.Ser611=) c.1974C>T (p.Ser658=) n.2149C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425418A>C | CA345558368 | NLRP3 | c.1969A>C (p.Thr657Pro) c.1834A>C (p.Thr612Pro) c.1975A>C (p.Thr659Pro) n.2150A>C | |
1 | g.247425418A>G | CA345558369 | NLRP3 | c.1969A>G (p.Thr657Ala) c.1834A>G (p.Thr612Ala) c.1975A>G (p.Thr659Ala) n.2150A>G | |
1 | g.247425418A>T | CA345558370 | NLRP3 | c.1969A>T (p.Thr657Ser) c.1834A>T (p.Thr612Ser) c.1975A>T (p.Thr659Ser) n.2150A>T | |
1 | g.247425419C>A | CA345558371 | NLRP3 | c.1970C>A (p.Thr657Asn) c.1835C>A (p.Thr612Asn) c.1976C>A (p.Thr659Asn) n.2151C>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.247425419C= | CA1143511984 | NLRP3 | c.1970C= (p.Thr657=) c.1835C= (p.Thr612=) c.1976C= (p.Thr659=) n.2151C= | |
1 | g.247425419C>G | CA345558372 | NLRP3 | c.1970C>G (p.Thr657Ser) c.1835C>G (p.Thr612Ser) c.1976C>G (p.Thr659Ser) n.2151C>G | |
1 | g.247425419C>T | CA40692402 | NLRP3 | c.1970C>T (p.Thr657Ile) c.1835C>T (p.Thr612Ile) c.1976C>T (p.Thr659Ile) n.2151C>T | dbSNP |
1 | g.247425420C>A | CA424582984 | NLRP3 | c.1971C>A (p.Thr657=) c.1836C>A (p.Thr612=) c.1977C>A (p.Thr659=) n.2152C>A | |
1 | g.247425420C>G | CA424582983 | NLRP3 | c.1971C>G (p.Thr657=) c.1836C>G (p.Thr612=) c.1977C>G (p.Thr659=) n.2152C>G | |
1 | g.247425420C>T | CA424582982 | NLRP3 | c.1971C>T (p.Thr657=) c.1836C>T (p.Thr612=) c.1977C>T (p.Thr659=) n.2152C>T | |
1 | g.247425421A>C | CA424582985 | NLRP3 | c.1972A>C (p.Arg658=) c.1837A>C (p.Arg613=) c.1978A>C (p.Arg660=) n.2153A>C | |
1 | g.247425421A>G | CA345558373 | NLRP3 | c.1972A>G (p.Arg658Gly) c.1837A>G (p.Arg613Gly) c.1978A>G (p.Arg660Gly) n.2153A>G | |
1 | g.247425421A>T | CA345558374 | NLRP3 | c.1972A>T (p.Arg658Ter) c.1837A>T (p.Arg613Ter) c.1978A>T (p.Arg660Ter) n.2153A>T | |
1 | g.247425422G>A | CA345558375 | NLRP3 | c.1973G>A (p.Arg658Lys) c.1838G>A (p.Arg613Lys) c.1979G>A (p.Arg660Lys) n.2154G>A | COSMIC |
1 | g.247425422G>C | CA345558376 | NLRP3 | c.1973G>C (p.Arg658Thr) c.1838G>C (p.Arg613Thr) c.1979G>C (p.Arg660Thr) n.2154G>C | |
1 | g.247425422G>T | CA345558377 | NLRP3 | c.1973G>T (p.Arg658Ile) c.1838G>T (p.Arg613Ile) c.1979G>T (p.Arg660Ile) n.2154G>T | |
1 | g.247425423A>C | CA345558378 | NLRP3 | c.1974A>C (p.Arg658Ser) c.1839A>C (p.Arg613Ser) c.1980A>C (p.Arg660Ser) n.2155A>C | |
1 | g.247425423A>G | CA424582986 | NLRP3 | c.1974A>G (p.Arg658=) c.1839A>G (p.Arg613=) c.1980A>G (p.Arg660=) n.2155A>G | |
1 | g.247425423A>T | CA345558379 | NLRP3 | c.1974A>T (p.Arg658Ser) c.1839A>T (p.Arg613Ser) c.1980A>T (p.Arg660Ser) n.2155A>T | |
1 | g.247425424A>C | CA345558380 | NLRP3 | c.1975A>C (p.Met659Leu) c.1840A>C (p.Met614Leu) c.1981A>C (p.Met661Leu) n.2156A>C | |
1 | g.247425424A>G | CA345558381 | NLRP3 | c.1975A>G (p.Met659Val) c.1840A>G (p.Met614Val) c.1981A>G (p.Met661Val) n.2156A>G | |
1 | g.247425424A>T | CA345558382 | NLRP3 | c.1975A>T (p.Met659Leu) c.1840A>T (p.Met614Leu) c.1981A>T (p.Met661Leu) n.2156A>T | |
1 | g.247425425T>A | CA281286 | NLRP3 | c.1976T>A (p.Met659Lys) c.1841T>A (p.Met614Lys) c.1982T>A (p.Met661Lys) n.2157T>A | ClinVar dbSNP |
1 | g.247425425T>C | CA345558383 | NLRP3 | c.1976T>C (p.Met659Thr) c.1841T>C (p.Met614Thr) c.1982T>C (p.Met661Thr) n.2157T>C | |
1 | g.247425425T>G | CA345558384 | NLRP3 | c.1976T>G (p.Met659Arg) c.1841T>G (p.Met614Arg) c.1982T>G (p.Met661Arg) n.2157T>G | ClinVar dbSNP |
1 | g.247425425T= | CA1142421425 | NLRP3 | c.1976T= (p.Met659=) c.1841T= (p.Met614=) c.1982T= (p.Met661=) n.2157T= | |
1 | g.247425426G>A | CA1495096 | NLRP3 | c.1977G>A (p.Met659Ile) c.1842G>A (p.Met614Ile) c.1983G>A (p.Met661Ile) n.2158G>A | dbSNP ExAC gnomAD v2 |
1 | g.247425426G>C | CA345558386 | NLRP3 | c.1977G>C (p.Met659Ile) c.1842G>C (p.Met614Ile) c.1983G>C (p.Met661Ile) n.2158G>C | |
1 | g.247425426G= | CA1232099197 | NLRP3 | c.1977G= (p.Met659=) c.1842G= (p.Met614=) c.1983G= (p.Met661=) n.2158G= | |
1 | g.247425426G>T | CA345558385 | NLRP3 | c.1977G>T (p.Met659Ile) c.1842G>T (p.Met614Ile) c.1983G>T (p.Met661Ile) n.2158G>T | |
1 | g.247425427G>A | CA345558387 | NLRP3 | c.1978G>A (p.Asp660Asn) c.1843G>A (p.Asp615Asn) c.1984G>A (p.Asp662Asn) n.2159G>A | |
1 | g.247425427G>C | CA345558389 | NLRP3 | c.1978G>C (p.Asp660His) c.1843G>C (p.Asp615His) c.1984G>C (p.Asp662His) n.2159G>C | |
1 | g.247425427G>T | CA345558388 | NLRP3 | c.1978G>T (p.Asp660Tyr) c.1843G>T (p.Asp615Tyr) c.1984G>T (p.Asp662Tyr) n.2159G>T | |
1 | g.247425428A>C | CA345558390 | NLRP3 | c.1979A>C (p.Asp660Ala) c.1844A>C (p.Asp615Ala) c.1985A>C (p.Asp662Ala) n.2160A>C | |
1 | g.247425428A>G | CA345558391 | NLRP3 | c.1979A>G (p.Asp660Gly) c.1844A>G (p.Asp615Gly) c.1985A>G (p.Asp662Gly) n.2160A>G | |
1 | g.247425428A>T | CA345558392 | NLRP3 | c.1979A>T (p.Asp660Val) c.1844A>T (p.Asp615Val) c.1985A>T (p.Asp662Val) n.2160A>T | |
1 | g.247425429C>A | CA345558393 | NLRP3 | c.1980C>A (p.Asp660Glu) c.1845C>A (p.Asp615Glu) c.1986C>A (p.Asp662Glu) n.2161C>A | |
1 | g.247425429C>G | CA345558394 | NLRP3 | c.1980C>G (p.Asp660Glu) c.1845C>G (p.Asp615Glu) c.1986C>G (p.Asp662Glu) n.2161C>G | |
1 | g.247425429C>T | CA424582987 | NLRP3 | c.1980C>T (p.Asp660=) c.1845C>T (p.Asp615=) c.1986C>T (p.Asp662=) n.2161C>T | |
1 | g.247425430C>A | CA345558395 | NLRP3 | c.1981C>A (p.His661Asn) c.1846C>A (p.His616Asn) c.1987C>A (p.His663Asn) n.2162C>A | |
1 | g.247425430C>G | CA345558396 | NLRP3 | c.1981C>G (p.His661Asp) c.1846C>G (p.His616Asp) c.1987C>G (p.His663Asp) n.2162C>G | |
1 | g.247425430C>T | CA345558397 | NLRP3 | c.1981C>T (p.His661Tyr) c.1846C>T (p.His616Tyr) c.1987C>T (p.His663Tyr) n.2162C>T | |
1 | g.247425431A>C | CA345558398 | NLRP3 | c.1982A>C (p.His661Pro) c.1847A>C (p.His616Pro) c.1988A>C (p.His663Pro) n.2163A>C | |
1 | g.247425431A>G | CA345558399 | NLRP3 | c.1982A>G (p.His661Arg) c.1847A>G (p.His616Arg) c.1988A>G (p.His663Arg) n.2163A>G | |
1 | g.247425431A>T | CA345558400 | NLRP3 | c.1982A>T (p.His661Leu) c.1847A>T (p.His616Leu) c.1988A>T (p.His663Leu) n.2163A>T | |
1 | g.247425432C>A | CA345558402 | NLRP3 | c.1983C>A (p.His661Gln) c.1848C>A (p.His616Gln) c.1989C>A (p.His663Gln) n.2164C>A | |
1 | g.247425432C= | CA1232099203 | NLRP3 | c.1983C= (p.His661=) c.1848C= (p.His616=) c.1989C= (p.His663=) n.2164C= | |
1 | g.247425432C>G | CA345558401 | NLRP3 | c.1983C>G (p.His661Gln) c.1848C>G (p.His616Gln) c.1989C>G (p.His663Gln) n.2164C>G | |
1 | g.247425432C>T | CA424582988 | NLRP3 | c.1983C>T (p.His661=) c.1848C>T (p.His616=) c.1989C>T (p.His663=) n.2164C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425433A>C | CA345558403 | NLRP3 | c.1984A>C (p.Met662Leu) c.1849A>C (p.Met617Leu) c.1990A>C (p.Met664Leu) n.2165A>C | |
1 | g.247425433A>G | CA345558404 | NLRP3 | c.1984A>G (p.Met662Val) c.1849A>G (p.Met617Val) c.1990A>G (p.Met664Val) n.2165A>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425433A>T | CA345558405 | NLRP3 | c.1984A>T (p.Met662Leu) c.1849A>T (p.Met617Leu) c.1990A>T (p.Met664Leu) n.2165A>T | |
1 | g.247425434T>A | CA345558406 | NLRP3 | c.1985T>A (p.Met662Lys) c.1850T>A (p.Met617Lys) c.1991T>A (p.Met664Lys) n.2166T>A | |
1 | g.247425434T>C | CA281290 | NLRP3 | c.1985T>C (p.Met662Thr) c.1850T>C (p.Met617Thr) c.1991T>C (p.Met664Thr) n.2166T>C | ClinVar dbSNP |
1 | g.247425434T>G | CA345558407 | NLRP3 | c.1985T>G (p.Met662Arg) c.1850T>G (p.Met617Arg) c.1991T>G (p.Met664Arg) n.2166T>G | |
1 | g.247425434T= | CA1142421426 | NLRP3 | c.1985T= (p.Met662=) c.1850T= (p.Met617=) c.1991T= (p.Met664=) n.2166T= | |
1 | g.247425435G>A | CA345558408 | NLRP3 | c.1986G>A (p.Met662Ile) c.1851G>A (p.Met617Ile) c.1992G>A (p.Met664Ile) n.2167G>A | |
1 | g.247425435G>C | CA345558409 | NLRP3 | c.1986G>C (p.Met662Ile) c.1851G>C (p.Met617Ile) c.1992G>C (p.Met664Ile) n.2167G>C | |
1 | g.247425435G>T | CA345558410 | NLRP3 | c.1986G>T (p.Met662Ile) c.1851G>T (p.Met617Ile) c.1992G>T (p.Met664Ile) n.2167G>T | |
1 | g.247425436G>A | CA345558411 | NLRP3 | c.1987G>A (p.Val663Ile) c.1852G>A (p.Val618Ile) c.1993G>A (p.Val665Ile) n.2168G>A | COSMIC |
1 | g.247425436G>C | CA345558412 | NLRP3 | c.1987G>C (p.Val663Leu) c.1852G>C (p.Val618Leu) c.1993G>C (p.Val665Leu) n.2168G>C | |
1 | g.247425436G>T | CA345558413 | NLRP3 | c.1987G>T (p.Val663Phe) c.1852G>T (p.Val618Phe) c.1993G>T (p.Val665Phe) n.2168G>T | COSMIC |
1 | g.247425437T>A | CA345558415 | NLRP3 | c.1988T>A (p.Val663Asp) c.1853T>A (p.Val618Asp) c.1994T>A (p.Val665Asp) n.2169T>A | |
1 | g.247425437T>C | CA345558416 | NLRP3 | c.1988T>C (p.Val663Ala) c.1853T>C (p.Val618Ala) c.1994T>C (p.Val665Ala) n.2169T>C | |
1 | g.247425437T>G | CA345558414 | NLRP3 | c.1988T>G (p.Val663Gly) c.1853T>G (p.Val618Gly) c.1994T>G (p.Val665Gly) n.2169T>G | |
1 | g.247425438T>A | CA424582991 | NLRP3 | c.1989T>A (p.Val663=) c.1854T>A (p.Val618=) c.1995T>A (p.Val665=) n.2170T>A | |
1 | g.247425438T>C | CA424582990 | NLRP3 | c.1989T>C (p.Val663=) c.1854T>C (p.Val618=) c.1995T>C (p.Val665=) n.2170T>C | |
1 | g.247425438T>G | CA424582989 | NLRP3 | c.1989T>G (p.Val663=) c.1854T>G (p.Val618=) c.1995T>G (p.Val665=) n.2170T>G | |
1 | g.247425439T>A | CA345558417 | NLRP3 | c.1990T>A (p.Ser664Thr) c.1855T>A (p.Ser619Thr) c.1996T>A (p.Ser666Thr) n.2171T>A | |
1 | g.247425439T>C | CA345558418 | NLRP3 | c.1990T>C (p.Ser664Pro) c.1855T>C (p.Ser619Pro) c.1996T>C (p.Ser666Pro) n.2171T>C | |
1 | g.247425439T>G | CA345558419 | NLRP3 | c.1990T>G (p.Ser664Ala) c.1855T>G (p.Ser619Ala) c.1996T>G (p.Ser666Ala) n.2171T>G | |
1 | g.247425440C>A | CA345558420 | NLRP3 | c.1991C>A (p.Ser664Tyr) c.1856C>A (p.Ser619Tyr) c.1997C>A (p.Ser666Tyr) n.2172C>A | |
1 | g.247425440C>G | CA345558421 | NLRP3 | c.1991C>G (p.Ser664Cys) c.1856C>G (p.Ser619Cys) c.1997C>G (p.Ser666Cys) n.2172C>G | |
1 | g.247425440C>T | CA345558422 | NLRP3 | c.1991C>T (p.Ser664Phe) c.1856C>T (p.Ser619Phe) c.1997C>T (p.Ser666Phe) n.2172C>T | COSMIC |
1 | g.247425441T>A | CA424582992 | NLRP3 | c.1992T>A (p.Ser664=) c.1857T>A (p.Ser619=) c.1998T>A (p.Ser666=) n.2173T>A | dbSNP |
1 | g.247425441T>C | CA1495097 | NLRP3 | c.1992T>C (p.Ser664=) c.1857T>C (p.Ser619=) c.1998T>C (p.Ser666=) n.2173T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425441T>G | CA424582993 | NLRP3 | c.1992T>G (p.Ser664=) c.1857T>G (p.Ser619=) c.1998T>G (p.Ser666=) n.2173T>G | |
1 | g.247425441T= | CA1232099212 | NLRP3 | c.1992T= (p.Ser664=) c.1857T= (p.Ser619=) c.1998T= (p.Ser666=) n.2173T= | |
1 | g.247425442T>A | CA345558423 | NLRP3 | c.1993T>A (p.Ser665Thr) c.1858T>A (p.Ser620Thr) c.1999T>A (p.Ser667Thr) n.2174T>A | |
1 | g.247425442T>C | CA345558424 | NLRP3 | c.1993T>C (p.Ser665Pro) c.1858T>C (p.Ser620Pro) c.1999T>C (p.Ser667Pro) n.2174T>C | |
1 | g.247425442T>G | CA345558425 | NLRP3 | c.1993T>G (p.Ser665Ala) c.1858T>G (p.Ser620Ala) c.1999T>G (p.Ser667Ala) n.2174T>G | |
1 | g.247425443C>A | CA345558426 | NLRP3 | c.1994C>A (p.Ser665Tyr) c.1859C>A (p.Ser620Tyr) c.2000C>A (p.Ser667Tyr) n.2175C>A | |
1 | g.247425443C>G | CA345558427 | NLRP3 | c.1994C>G (p.Ser665Cys) c.1859C>G (p.Ser620Cys) c.2000C>G (p.Ser667Cys) n.2175C>G | |
1 | g.247425443C>T | CA345558428 | NLRP3 | c.1994C>T (p.Ser665Phe) c.1859C>T (p.Ser620Phe) c.2000C>T (p.Ser667Phe) n.2175C>T | gnomAD v4 |
1 | g.247425444C>A | CA424582994 | NLRP3 | c.1995C>A (p.Ser665=) c.1860C>A (p.Ser620=) c.2001C>A (p.Ser667=) n.2176C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.247425444C= | CA1232099215 | NLRP3 | c.1995C= (p.Ser665=) c.1860C= (p.Ser620=) c.2001C= (p.Ser667=) n.2176C= | |
1 | g.247425444C>G | CA424582995 | NLRP3 | c.1995C>G (p.Ser665=) c.1860C>G (p.Ser620=) c.2001C>G (p.Ser667=) n.2176C>G | |
1 | g.247425444C>T | CA424582996 | NLRP3 | c.1995C>T (p.Ser665=) c.1860C>T (p.Ser620=) c.2001C>T (p.Ser667=) n.2176C>T | dbSNP |
1 | g.247425445T>A | CA345558431 | NLRP3 | c.1996T>A (p.Phe666Ile) c.1861T>A (p.Phe621Ile) c.2002T>A (p.Phe668Ile) n.2177T>A | |
1 | g.247425445T>C | CA345558430 | NLRP3 | c.1996T>C (p.Phe666Leu) c.1861T>C (p.Phe621Leu) c.2002T>C (p.Phe668Leu) n.2177T>C | gnomAD v4 |
1 | g.247425445T>G | CA345558429 | NLRP3 | c.1996T>G (p.Phe666Val) c.1861T>G (p.Phe621Val) c.2002T>G (p.Phe668Val) n.2177T>G | ClinVar dbSNP |
1 | g.247425446T>A | CA345558432 | NLRP3 | c.1997T>A (p.Phe666Tyr) c.1862T>A (p.Phe621Tyr) c.2003T>A (p.Phe668Tyr) n.2178T>A | |
1 | g.247425446T>C | CA345558433 | NLRP3 | c.1997T>C (p.Phe666Ser) c.1862T>C (p.Phe621Ser) c.2003T>C (p.Phe668Ser) n.2178T>C | |
1 | g.247425446T>G | CA345558434 | NLRP3 | c.1997T>G (p.Phe666Cys) c.1862T>G (p.Phe621Cys) c.2003T>G (p.Phe668Cys) n.2178T>G | |
1 | g.247425447T>A | CA345558435 | NLRP3 | c.1998T>A (p.Phe666Leu) c.1863T>A (p.Phe621Leu) c.2004T>A (p.Phe668Leu) n.2179T>A | |
1 | g.247425447T>C | CA424582997 | NLRP3 | c.1998T>C (p.Phe666=) c.1863T>C (p.Phe621=) c.2004T>C (p.Phe668=) n.2179T>C | |
1 | g.247425447T>G | CA345558436 | NLRP3 | c.1998T>G (p.Phe666Leu) c.1863T>G (p.Phe621Leu) c.2004T>G (p.Phe668Leu) n.2179T>G | |
1 | g.247425448T>A | CA345558437 | NLRP3 | c.1999T>A (p.Cys667Ser) c.1864T>A (p.Cys622Ser) c.2005T>A (p.Cys669Ser) n.2180T>A | |
1 | g.247425448T>C | CA345558438 | NLRP3 | c.1999T>C (p.Cys667Arg) c.1864T>C (p.Cys622Arg) c.2005T>C (p.Cys669Arg) n.2180T>C | |
1 | g.247425448T>G | CA345558439 | NLRP3 | c.1999T>G (p.Cys667Gly) c.1864T>G (p.Cys622Gly) c.2005T>G (p.Cys669Gly) n.2180T>G | |
1 | g.247425449G>A | CA345558440 | NLRP3 | c.2000G>A (p.Cys667Tyr) c.1865G>A (p.Cys622Tyr) c.2006G>A (p.Cys669Tyr) n.2181G>A | |
1 | g.247425449G>C | CA345558441 | NLRP3 | c.2000G>C (p.Cys667Ser) c.1865G>C (p.Cys622Ser) c.2006G>C (p.Cys669Ser) n.2181G>C | |
1 | g.247425449G>T | CA345558442 | NLRP3 | c.2000G>T (p.Cys667Phe) c.1865G>T (p.Cys622Phe) c.2006G>T (p.Cys669Phe) n.2181G>T | gnomAD v4 COSMIC |
1 | g.247425450C>A | CA345558443 | NLRP3 | c.2001C>A (p.Cys667Ter) c.1866C>A (p.Cys622Ter) c.2007C>A (p.Cys669Ter) n.2182C>A | |
1 | g.247425450C>G | CA345558444 | NLRP3 | c.2001C>G (p.Cys667Trp) c.1866C>G (p.Cys622Trp) c.2007C>G (p.Cys669Trp) n.2182C>G | |
1 | g.247425450C>T | CA424582998 | NLRP3 | c.2001C>T (p.Cys667=) c.1866C>T (p.Cys622=) c.2007C>T (p.Cys669=) n.2182C>T | gnomAD v4 |
1 | g.247425451A>C | CA345558447 | NLRP3 | c.2002A>C (p.Ile668Leu) c.1867A>C (p.Ile623Leu) c.2008A>C (p.Ile670Leu) n.2183A>C | gnomAD v4 |
1 | g.247425451A>G | CA345558446 | NLRP3 | c.2002A>G (p.Ile668Val) c.1867A>G (p.Ile623Val) c.2008A>G (p.Ile670Val) n.2183A>G | |
1 | g.247425451A>T | CA345558445 | NLRP3 | c.2002A>T (p.Ile668Phe) c.1867A>T (p.Ile623Phe) c.2008A>T (p.Ile670Phe) n.2183A>T | |
1 | g.247425452T>A | CA345558448 | NLRP3 | c.2003T>A (p.Ile668Asn) c.1868T>A (p.Ile623Asn) c.2009T>A (p.Ile670Asn) n.2184T>A | |
1 | g.247425452T>C | CA345558450 | NLRP3 | c.2003T>C (p.Ile668Thr) c.1868T>C (p.Ile623Thr) c.2009T>C (p.Ile670Thr) n.2184T>C | |
1 | g.247425452T>G | CA345558449 | NLRP3 | c.2003T>G (p.Ile668Ser) c.1868T>G (p.Ile623Ser) c.2009T>G (p.Ile670Ser) n.2184T>G | |
1 | g.247425453T>A | CA424582999 | NLRP3 | c.2004T>A (p.Ile668=) c.1869T>A (p.Ile623=) c.2010T>A (p.Ile670=) n.2185T>A | |
1 | g.247425453T>C | CA424583000 | NLRP3 | c.2004T>C (p.Ile668=) c.1869T>C (p.Ile623=) c.2010T>C (p.Ile670=) n.2185T>C | |
1 | g.247425453T>G | CA345558451 | NLRP3 | c.2004T>G (p.Ile668Met) c.1869T>G (p.Ile623Met) c.2010T>G (p.Ile670Met) n.2185T>G | |
1 | g.247425454G>A | CA345558453 | NLRP3 | c.2005G>A (p.Glu669Lys) c.1870G>A (p.Glu624Lys) c.2011G>A (p.Glu671Lys) n.2186G>A | |
1 | g.247425454G>C | CA345558452 | NLRP3 | c.2005G>C (p.Glu669Gln) c.1870G>C (p.Glu624Gln) c.2011G>C (p.Glu671Gln) n.2186G>C | |
1 | g.247425454G>T | CA345558454 | NLRP3 | c.2005G>T (p.Glu669Ter) c.1870G>T (p.Glu624Ter) c.2011G>T (p.Glu671Ter) n.2186G>T | |
1 | g.247425455A>C | CA345558455 | NLRP3 | c.2006A>C (p.Glu669Ala) c.1871A>C (p.Glu624Ala) c.2012A>C (p.Glu671Ala) n.2187A>C | |
1 | g.247425455A>G | CA345558456 | NLRP3 | c.2006A>G (p.Glu669Gly) c.1871A>G (p.Glu624Gly) c.2012A>G (p.Glu671Gly) n.2187A>G | |
1 | g.247425455A>T | CA345558457 | NLRP3 | c.2006A>T (p.Glu669Val) c.1871A>T (p.Glu624Val) c.2012A>T (p.Glu671Val) n.2187A>T | |
1 | g.247425456G>A | CA424583001 | NLRP3 | c.2007G>A (p.Glu669=) c.1872G>A (p.Glu624=) c.2013G>A (p.Glu671=) n.2188G>A | dbSNP |
1 | g.247425456G>C | CA345558458 | NLRP3 | c.2007G>C (p.Glu669Asp) c.1872G>C (p.Glu624Asp) c.2013G>C (p.Glu671Asp) n.2188G>C | |
1 | g.247425456G= | CA1232099223 | NLRP3 | c.2007G= (p.Glu669=) c.1872G= (p.Glu624=) c.2013G= (p.Glu671=) n.2188G= | |
1 | g.247425456G>T | CA345558459 | NLRP3 | c.2007G>T (p.Glu669Asp) c.1872G>T (p.Glu624Asp) c.2013G>T (p.Glu671Asp) n.2188G>T | |
1 | g.247425457A>C | CA345558460 | NLRP3 | c.2008A>C (p.Asn670His) c.1873A>C (p.Asn625His) c.2014A>C (p.Asn672His) n.2189A>C | |
1 | g.247425457A>G | CA345558461 | NLRP3 | c.2008A>G (p.Asn670Asp) c.1873A>G (p.Asn625Asp) c.2014A>G (p.Asn672Asp) n.2189A>G | |
1 | g.247425457A>T | CA345558462 | NLRP3 | c.2008A>T (p.Asn670Tyr) c.1873A>T (p.Asn625Tyr) c.2014A>T (p.Asn672Tyr) n.2189A>T | |
1 | g.247425458A>C | CA345558463 | NLRP3 | c.2009A>C (p.Asn670Thr) c.1874A>C (p.Asn625Thr) c.2015A>C (p.Asn672Thr) n.2190A>C | |
1 | g.247425458A>G | CA345558464 | NLRP3 | c.2009A>G (p.Asn670Ser) c.1874A>G (p.Asn625Ser) c.2015A>G (p.Asn672Ser) n.2190A>G | |
1 | g.247425458A>T | CA345558465 | NLRP3 | c.2009A>T (p.Asn670Ile) c.1874A>T (p.Asn625Ile) c.2015A>T (p.Asn672Ile) n.2190A>T | gnomAD v4 |
1 | g.247425459C>A | CA345558467 | NLRP3 | c.2010C>A (p.Asn670Lys) c.1875C>A (p.Asn625Lys) c.2016C>A (p.Asn672Lys) n.2191C>A | |
1 | g.247425459C>G | CA345558466 | NLRP3 | c.2010C>G (p.Asn670Lys) c.1875C>G (p.Asn625Lys) c.2016C>G (p.Asn672Lys) n.2191C>G | |
1 | g.247425459C>T | CA424583002 | NLRP3 | c.2010C>T (p.Asn670=) c.1875C>T (p.Asn625=) c.2016C>T (p.Asn672=) n.2191C>T | COSMIC |
1 | g.247425460T>A | CA345558468 | NLRP3 | c.2011T>A (p.Cys671Ser) c.1876T>A (p.Cys626Ser) c.2017T>A (p.Cys673Ser) n.2192T>A | |
1 | g.247425460T>C | CA345558469 | NLRP3 | c.2011T>C (p.Cys671Arg) c.1876T>C (p.Cys626Arg) c.2017T>C (p.Cys673Arg) n.2192T>C | |
1 | g.247425460T>G | CA345558470 | NLRP3 | c.2011T>G (p.Cys671Gly) c.1876T>G (p.Cys626Gly) c.2017T>G (p.Cys673Gly) n.2192T>G | |
1 | g.247425461G>A | CA345558471 | NLRP3 | c.2012G>A (p.Cys671Tyr) c.1877G>A (p.Cys626Tyr) c.2018G>A (p.Cys673Tyr) n.2193G>A | gnomAD v4 |
1 | g.247425461G>C | CA40692427 | NLRP3 | c.2012G>C (p.Cys671Ser) c.1877G>C (p.Cys626Ser) c.2018G>C (p.Cys673Ser) n.2193G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425461G= | CA1143381211 | NLRP3 | c.2012G= (p.Cys671=) c.1877G= (p.Cys626=) c.2018G= (p.Cys673=) n.2193G= | |
1 | g.247425461G>T | CA345558472 | NLRP3 | c.2012G>T (p.Cys671Phe) c.1877G>T (p.Cys626Phe) c.2018G>T (p.Cys673Phe) n.2193G>T | |
1 | g.247425462T>A | CA345558473 | NLRP3 | c.2013T>A (p.Cys671Ter) c.1878T>A (p.Cys626Ter) c.2019T>A (p.Cys673Ter) n.2194T>A | |
1 | g.247425462T>C | CA424583003 | NLRP3 | c.2013T>C (p.Cys671=) c.1878T>C (p.Cys626=) c.2019T>C (p.Cys673=) n.2194T>C | |
1 | g.247425462T>G | CA345558474 | NLRP3 | c.2013T>G (p.Cys671Trp) c.1878T>G (p.Cys626Trp) c.2019T>G (p.Cys673Trp) n.2194T>G | |
1 | g.247425463C>A | CA40692433 | NLRP3 | c.2014C>A (p.His672Asn) c.1879C>A (p.His627Asn) c.2020C>A (p.His674Asn) n.2195C>A | dbSNP |
1 | g.247425463C= | CA1143441822 | NLRP3 | c.2014C= (p.His672=) c.1879C= (p.His627=) c.2020C= (p.His674=) n.2195C= | |
1 | g.247425463C>G | CA345558475 | NLRP3 | c.2014C>G (p.His672Asp) c.1879C>G (p.His627Asp) c.2020C>G (p.His674Asp) n.2195C>G | |
1 | g.247425463C>T | CA345558476 | NLRP3 | c.2014C>T (p.His672Tyr) c.1879C>T (p.His627Tyr) c.2020C>T (p.His674Tyr) n.2195C>T | COSMIC |
1 | g.247425464A= | CA1145109833 | NLRP3 | c.2015A= (p.His672=) c.1880A= (p.His627=) c.2021A= (p.His674=) n.2196A= | |
1 | g.247425464A>C | CA345558478 | NLRP3 | c.2015A>C (p.His672Pro) c.1880A>C (p.His627Pro) c.2021A>C (p.His674Pro) n.2196A>C | |
1 | g.247425464A>G | CA40692437 | NLRP3 | c.2015A>G (p.His672Arg) c.1880A>G (p.His627Arg) c.2021A>G (p.His674Arg) n.2196A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425464A>T | CA345558477 | NLRP3 | c.2015A>T (p.His672Leu) c.1880A>T (p.His627Leu) c.2021A>T (p.His674Leu) n.2196A>T | |
1 | g.247425465T>A | CA345558479 | NLRP3 | c.2016T>A (p.His672Gln) c.1881T>A (p.His627Gln) c.2022T>A (p.His674Gln) n.2197T>A | |
1 | g.247425465T>C | CA424583004 | NLRP3 | c.2016T>C (p.His672=) c.1881T>C (p.His627=) c.2022T>C (p.His674=) n.2197T>C | |
1 | g.247425465T>G | CA345558480 | NLRP3 | c.2016T>G (p.His672Gln) c.1881T>G (p.His627Gln) c.2022T>G (p.His674Gln) n.2197T>G | |
1 | g.247425466C>A | CA424583005 | NLRP3 | c.2017C>A (p.Arg673=) c.1882C>A (p.Arg628=) c.2023C>A (p.Arg675=) n.2198C>A | gnomAD v4 |
1 | g.247425466C= | CA1232099237 | NLRP3 | c.2017C= (p.Arg673=) c.1882C= (p.Arg628=) c.2023C= (p.Arg675=) n.2198C= | |
1 | g.247425466C>G | CA345558481 | NLRP3 | c.2017C>G (p.Arg673Gly) c.1882C>G (p.Arg628Gly) c.2023C>G (p.Arg675Gly) n.2198C>G | |
1 | g.247425466C>T | CA1495098 | NLRP3 | c.2017C>T (p.Arg673Trp) c.1882C>T (p.Arg628Trp) c.2023C>T (p.Arg675Trp) n.2198C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.247425467G>A | CA1495099 | NLRP3 | c.2018G>A (p.Arg673Gln) c.1883G>A (p.Arg628Gln) c.2024G>A (p.Arg675Gln) n.2199G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425467G>C | CA345558483 | NLRP3 | c.2018G>C (p.Arg673Pro) c.1883G>C (p.Arg628Pro) c.2024G>C (p.Arg675Pro) n.2199G>C | |
1 | g.247425467G= | CA1141881131 | NLRP3 | c.2018G= (p.Arg673=) c.1883G= (p.Arg628=) c.2024G= (p.Arg675=) n.2199G= | |
1 | g.247425467G>T | CA345558482 | NLRP3 | c.2018G>T (p.Arg673Leu) c.1883G>T (p.Arg628Leu) c.2024G>T (p.Arg675Leu) n.2199G>T | |
1 | g.247425468G>A | CA424583008 | NLRP3 | c.2019G>A (p.Arg673=) c.1884G>A (p.Arg628=) c.2025G>A (p.Arg675=) n.2200G>A | |
1 | g.247425468G>C | CA424583006 | NLRP3 | c.2019G>C (p.Arg673=) c.1884G>C (p.Arg628=) c.2025G>C (p.Arg675=) n.2200G>C | |
1 | g.247425468G>T | CA424583007 | NLRP3 | c.2019G>T (p.Arg673=) c.1884G>T (p.Arg628=) c.2025G>T (p.Arg675=) n.2200G>T | |
1 | g.247425469G>A | CA1495100 | NLRP3 | c.2020G>A (p.Val674Met) c.1885G>A (p.Val629Met) c.2026G>A (p.Val676Met) n.2201G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425469G>C | CA345558484 | NLRP3 | c.2020G>C (p.Val674Leu) c.1885G>C (p.Val629Leu) c.2026G>C (p.Val676Leu) n.2201G>C | |
1 | g.247425469G= | CA1232099248 | NLRP3 | c.2020G= (p.Val674=) c.1885G= (p.Val629=) c.2026G= (p.Val676=) n.2201G= | |
1 | g.247425469G>T | CA345558485 | NLRP3 | c.2020G>T (p.Val674Leu) c.1885G>T (p.Val629Leu) c.2026G>T (p.Val676Leu) n.2201G>T | |
1 | g.247425470T>A | CA345558486 | NLRP3 | c.2021T>A (p.Val674Glu) c.1886T>A (p.Val629Glu) c.2027T>A (p.Val676Glu) n.2202T>A | |
1 | g.247425470T>C | CA345558487 | NLRP3 | c.2021T>C (p.Val674Ala) c.1886T>C (p.Val629Ala) c.2027T>C (p.Val676Ala) n.2202T>C | |
1 | g.247425470T>G | CA345558488 | NLRP3 | c.2021T>G (p.Val674Gly) c.1886T>G (p.Val629Gly) c.2027T>G (p.Val676Gly) n.2202T>G | |
1 | g.247425471G>A | CA424583009 | NLRP3 | c.2022G>A (p.Val674=) c.1887G>A (p.Val629=) c.2028G>A (p.Val676=) n.2203G>A | COSMIC |
1 | g.247425471G>C | CA424583010 | NLRP3 | c.2022G>C (p.Val674=) c.1887G>C (p.Val629=) c.2028G>C (p.Val676=) n.2203G>C | |
1 | g.247425471G>T | CA424583011 | NLRP3 | c.2022G>T (p.Val674=) c.1887G>T (p.Val629=) c.2028G>T (p.Val676=) n.2203G>T | |
1 | g.247425472G>A | CA345558489 | NLRP3 | c.2023G>A (p.Glu675Lys) c.1888G>A (p.Glu630Lys) c.2029G>A (p.Glu677Lys) n.2204G>A | |
1 | g.247425472G>C | CA345558491 | NLRP3 | c.2023G>C (p.Glu675Gln) c.1888G>C (p.Glu630Gln) c.2029G>C (p.Glu677Gln) n.2204G>C | |
1 | g.247425472G>T | CA345558490 | NLRP3 | c.2023G>T (p.Glu675Ter) c.1888G>T (p.Glu630Ter) c.2029G>T (p.Glu677Ter) n.2204G>T | |
1 | g.247425473A>C | CA345558492 | NLRP3 | c.2024A>C (p.Glu675Ala) c.1889A>C (p.Glu630Ala) c.2030A>C (p.Glu677Ala) n.2205A>C | gnomAD v4 |
1 | g.247425473A>G | CA345558493 | NLRP3 | c.2024A>G (p.Glu675Gly) c.1889A>G (p.Glu630Gly) c.2030A>G (p.Glu677Gly) n.2205A>G | |
1 | g.247425473A>T | CA345558494 | NLRP3 | c.2024A>T (p.Glu675Val) c.1889A>T (p.Glu630Val) c.2030A>T (p.Glu677Val) n.2205A>T | |
1 | g.247425474G>A | CA1495101 | NLRP3 | c.2025G>A (p.Glu675=) c.1890G>A (p.Glu630=) c.2031G>A (p.Glu677=) n.2206G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425474G>C | CA345558495 | NLRP3 | c.2025G>C (p.Glu675Asp) c.1890G>C (p.Glu630Asp) c.2031G>C (p.Glu677Asp) n.2206G>C | |
1 | g.247425474G= | CA1232099250 | NLRP3 | c.2025G= (p.Glu675=) c.1890G= (p.Glu630=) c.2031G= (p.Glu677=) n.2206G= | |
1 | g.247425474G>T | CA345558496 | NLRP3 | c.2025G>T (p.Glu675Asp) c.1890G>T (p.Glu630Asp) c.2031G>T (p.Glu677Asp) n.2206G>T | |
1 | g.247425475T>A | CA345558497 | NLRP3 | c.2026T>A (p.Ser676Thr) c.1891T>A (p.Ser631Thr) c.2032T>A (p.Ser678Thr) n.2207T>A | |
1 | g.247425475T>C | CA345558498 | NLRP3 | c.2026T>C (p.Ser676Pro) c.1891T>C (p.Ser631Pro) c.2032T>C (p.Ser678Pro) n.2207T>C | |
1 | g.247425475T>G | CA345558499 | NLRP3 | c.2026T>G (p.Ser676Ala) c.1891T>G (p.Ser631Ala) c.2032T>G (p.Ser678Ala) n.2207T>G | |
1 | g.247425476C>A | CA345558500 | NLRP3 | c.2027C>A (p.Ser676Ter) c.1892C>A (p.Ser631Ter) c.2033C>A (p.Ser678Ter) n.2208C>A | |
1 | g.247425476C= | CA1232099254 | NLRP3 | c.2027C= (p.Ser676=) c.1892C= (p.Ser631=) c.2033C= (p.Ser678=) n.2208C= | |
1 | g.247425476C>G | CA345558501 | NLRP3 | c.2027C>G (p.Ser676Ter) c.1892C>G (p.Ser631Ter) c.2033C>G (p.Ser678Ter) n.2208C>G | dbSNP gnomAD v4 |
1 | g.247425476C>T | CA345558502 | NLRP3 | c.2027C>T (p.Ser676Leu) c.1892C>T (p.Ser631Leu) c.2033C>T (p.Ser678Leu) n.2208C>T | |
1 | g.247425477A>C | CA424583012 | NLRP3 | c.2028A>C (p.Ser676=) c.1893A>C (p.Ser631=) c.2034A>C (p.Ser678=) n.2209A>C | |
1 | g.247425477A>G | CA424583013 | NLRP3 | c.2028A>G (p.Ser676=) c.1893A>G (p.Ser631=) c.2034A>G (p.Ser678=) n.2209A>G | |
1 | g.247425477A>T | CA424583014 | NLRP3 | c.2028A>T (p.Ser676=) c.1893A>T (p.Ser631=) c.2034A>T (p.Ser678=) n.2209A>T | |
1 | g.247425478C>A | CA345558504 | NLRP3 | c.2029C>A (p.Leu677Met) c.1894C>A (p.Leu632Met) c.2035C>A (p.Leu679Met) n.2210C>A | |
1 | g.247425478C>G | CA345558503 | NLRP3 | c.2029C>G (p.Leu677Val) c.1894C>G (p.Leu632Val) c.2035C>G (p.Leu679Val) n.2210C>G | ClinVar dbSNP |
1 | g.247425478C>T | CA424583015 | NLRP3 | c.2029C>T (p.Leu677=) c.1894C>T (p.Leu632=) c.2035C>T (p.Leu679=) n.2210C>T | |
1 | g.247425479T>A | CA345558505 | NLRP3 | c.2030T>A (p.Leu677Gln) c.1895T>A (p.Leu632Gln) c.2036T>A (p.Leu679Gln) n.2211T>A | |
1 | g.247425479T>C | CA345558507 | NLRP3 | c.2030T>C (p.Leu677Pro) c.1895T>C (p.Leu632Pro) c.2036T>C (p.Leu679Pro) n.2211T>C | gnomAD v4 |
1 | g.247425479T>G | CA345558506 | NLRP3 | c.2030T>G (p.Leu677Arg) c.1895T>G (p.Leu632Arg) c.2036T>G (p.Leu679Arg) n.2211T>G | |
1 | g.247425480G>A | CA424583016 | NLRP3 | c.2031G>A (p.Leu677=) c.1896G>A (p.Leu632=) c.2037G>A (p.Leu679=) n.2212G>A | |
1 | g.247425480G>C | CA424583017 | NLRP3 | c.2031G>C (p.Leu677=) c.1896G>C (p.Leu632=) c.2037G>C (p.Leu679=) n.2212G>C | gnomAD v4 |
1 | g.247425480G>T | CA424583018 | NLRP3 | c.2031G>T (p.Leu677=) c.1896G>T (p.Leu632=) c.2037G>T (p.Leu679=) n.2212G>T | |
1 | g.247425481T>A | CA345558508 | NLRP3 | c.2032T>A (p.Ser678Thr) c.1897T>A (p.Ser633Thr) c.2038T>A (p.Ser680Thr) n.2213T>A | |
1 | g.247425481T>C | CA345558509 | NLRP3 | c.2032T>C (p.Ser678Pro) c.1897T>C (p.Ser633Pro) c.2038T>C (p.Ser680Pro) n.2213T>C | |
1 | g.247425481T>G | CA345558510 | NLRP3 | c.2032T>G (p.Ser678Ala) c.1897T>G (p.Ser633Ala) c.2038T>G (p.Ser680Ala) n.2213T>G | |
1 | g.247425482C>A | CA345558511 | NLRP3 | c.2033C>A (p.Ser678Tyr) c.1898C>A (p.Ser633Tyr) c.2039C>A (p.Ser680Tyr) n.2214C>A | |
1 | g.247425482C= | CA1232099256 | NLRP3 | c.2033C= (p.Ser678=) c.1898C= (p.Ser633=) c.2039C= (p.Ser680=) n.2214C= | |
1 | g.247425482C>G | CA345558512 | NLRP3 | c.2033C>G (p.Ser678Cys) c.1898C>G (p.Ser633Cys) c.2039C>G (p.Ser680Cys) n.2214C>G | |
1 | g.247425482C>T | CA345558513 | NLRP3 | c.2033C>T (p.Ser678Phe) c.1898C>T (p.Ser633Phe) c.2039C>T (p.Ser680Phe) n.2214C>T | dbSNP gnomAD v4 |
1 | g.247425483C>A | CA424583019 | NLRP3 | c.2034C>A (p.Ser678=) c.1899C>A (p.Ser633=) c.2040C>A (p.Ser680=) n.2215C>A | |
1 | g.247425483C= | CA1232099259 | NLRP3 | c.2034C= (p.Ser678=) c.1899C= (p.Ser633=) c.2040C= (p.Ser680=) n.2215C= | |
1 | g.247425483C>G | CA424583020 | NLRP3 | c.2034C>G (p.Ser678=) c.1899C>G (p.Ser633=) c.2040C>G (p.Ser680=) n.2215C>G | |
1 | g.247425483C>T | CA1495102 | NLRP3 | c.2034C>T (p.Ser678=) c.1899C>T (p.Ser633=) c.2040C>T (p.Ser680=) n.2215C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425484C>A | CA345558514 | NLRP3 | c.2035C>A (p.Leu679Met) c.1900C>A (p.Leu634Met) c.2041C>A (p.Leu681Met) n.2216C>A | |
1 | g.247425484C>G | CA345558515 | NLRP3 | c.2035C>G (p.Leu679Val) c.1900C>G (p.Leu634Val) c.2041C>G (p.Leu681Val) n.2216C>G | |
1 | g.247425484C>T | CA424583021 | NLRP3 | c.2035C>T (p.Leu679=) c.1900C>T (p.Leu634=) c.2041C>T (p.Leu681=) n.2216C>T |