Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
1 | g.247425485T>A | CA345558516 | NLRP3 | c.2036T>A (p.Leu679Gln) c.1901T>A (p.Leu634Gln) c.2042T>A (p.Leu681Gln) n.2217T>A | |
1 | g.247425485T>C | CA345558517 | NLRP3 | c.2036T>C (p.Leu679Pro) c.1901T>C (p.Leu634Pro) c.2042T>C (p.Leu681Pro) n.2217T>C | |
1 | g.247425485T>G | CA345558518 | NLRP3 | c.2036T>G (p.Leu679Arg) c.1901T>G (p.Leu634Arg) c.2042T>G (p.Leu681Arg) n.2217T>G | |
1 | g.247425486G>A | CA424583022 | NLRP3 | c.2037G>A (p.Leu679=) c.1902G>A (p.Leu634=) c.2043G>A (p.Leu681=) n.2218G>A | |
1 | g.247425486G>C | CA424583023 | NLRP3 | c.2037G>C (p.Leu679=) c.1902G>C (p.Leu634=) c.2043G>C (p.Leu681=) n.2218G>C | |
1 | g.247425486G>T | CA424583024 | NLRP3 | c.2037G>T (p.Leu679=) c.1902G>T (p.Leu634=) c.2043G>T (p.Leu681=) n.2218G>T | |
1 | g.247425487G>A | CA345558521 | NLRP3 | c.2038G>A (p.Gly680Arg) c.1903G>A (p.Gly635Arg) c.2044G>A (p.Gly682Arg) n.2219G>A | COSMIC |
1 | g.247425487G>C | CA345558519 | NLRP3 | c.2038G>C (p.Gly680Arg) c.1903G>C (p.Gly635Arg) c.2044G>C (p.Gly682Arg) n.2219G>C | gnomAD v4 |
1 | g.247425487G>T | CA345558520 | NLRP3 | c.2038G>T (p.Gly680Trp) c.1903G>T (p.Gly635Trp) c.2044G>T (p.Gly682Trp) n.2219G>T | dbSNP |
1 | g.247425488G>A | CA345558522 | NLRP3 | c.2039G>A (p.Gly680Glu) c.1904G>A (p.Gly635Glu) c.2045G>A (p.Gly682Glu) n.2220G>A | gnomAD v4 |
1 | g.247425488G>C | CA345558523 | NLRP3 | c.2039G>C (p.Gly680Ala) c.1904G>C (p.Gly635Ala) c.2045G>C (p.Gly682Ala) n.2220G>C | |
1 | g.247425488G>T | CA345558524 | NLRP3 | c.2039G>T (p.Gly680Val) c.1904G>T (p.Gly635Val) c.2045G>T (p.Gly682Val) n.2220G>T | |
1 | g.247425489G>A | CA424583025 | NLRP3 | c.2040G>A (p.Gly680=) c.1905G>A (p.Gly635=) c.2046G>A (p.Gly682=) n.2221G>A | |
1 | g.247425489G>C | CA40692472 | NLRP3 | c.2040G>C (p.Gly680=) c.1905G>C (p.Gly635=) c.2046G>C (p.Gly682=) n.2221G>C | ClinVar dbSNP gnomAD v4 |
1 | g.247425489G= | CA1143506110 | NLRP3 | c.2040G= (p.Gly680=) c.1905G= (p.Gly635=) c.2046G= (p.Gly682=) n.2221G= | |
1 | g.247425489G>T | CA1495103 | NLRP3 | c.2040G>T (p.Gly680=) c.1905G>T (p.Gly635=) c.2046G>T (p.Gly682=) n.2221G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425490T>A | CA345558525 | NLRP3 | c.2041T>A (p.Phe681Ile) c.1906T>A (p.Phe636Ile) c.2047T>A (p.Phe683Ile) n.2222T>A | |
1 | g.247425490T>C | CA345558526 | NLRP3 | c.2041T>C (p.Phe681Leu) c.1906T>C (p.Phe636Leu) c.2047T>C (p.Phe683Leu) n.2222T>C | |
1 | g.247425490T>G | CA345558527 | NLRP3 | c.2041T>G (p.Phe681Val) c.1906T>G (p.Phe636Val) c.2047T>G (p.Phe683Val) n.2222T>G | |
1 | g.247425491T>A | CA345558528 | NLRP3 | c.2042T>A (p.Phe681Tyr) c.1907T>A (p.Phe636Tyr) c.2048T>A (p.Phe683Tyr) n.2223T>A | |
1 | g.247425491T>C | CA345558529 | NLRP3 | c.2042T>C (p.Phe681Ser) c.1907T>C (p.Phe636Ser) c.2048T>C (p.Phe683Ser) n.2223T>C | |
1 | g.247425491T>G | CA345558530 | NLRP3 | c.2042T>G (p.Phe681Cys) c.1907T>G (p.Phe636Cys) c.2048T>G (p.Phe683Cys) n.2223T>G | |
1 | g.247425492T>A | CA345558532 | NLRP3 | c.2043T>A (p.Phe681Leu) c.1908T>A (p.Phe636Leu) c.2049T>A (p.Phe683Leu) n.2224T>A | |
1 | g.247425492T>C | CA424583026 | NLRP3 | c.2043T>C (p.Phe681=) c.1908T>C (p.Phe636=) c.2049T>C (p.Phe683=) n.2224T>C | |
1 | g.247425492T>G | CA345558531 | NLRP3 | c.2043T>G (p.Phe681Leu) c.1908T>G (p.Phe636Leu) c.2049T>G (p.Phe683Leu) n.2224T>G | |
1 | g.247425493C>A | CA345558533 | NLRP3 | c.2044C>A (p.Leu682Ile) c.1909C>A (p.Leu637Ile) c.2050C>A (p.Leu684Ile) n.2225C>A | |
1 | g.247425493C>G | CA345558534 | NLRP3 | c.2044C>G (p.Leu682Val) c.1909C>G (p.Leu637Val) c.2050C>G (p.Leu684Val) n.2225C>G | |
1 | g.247425493C>T | CA345558535 | NLRP3 | c.2044C>T (p.Leu682Phe) c.1909C>T (p.Leu637Phe) c.2050C>T (p.Leu684Phe) n.2225C>T | |
1 | g.247425494T>A | CA345558536 | NLRP3 | c.2045T>A (p.Leu682His) c.1910T>A (p.Leu637His) c.2051T>A (p.Leu684His) n.2226T>A | |
1 | g.247425494T>C | CA345558537 | NLRP3 | c.2045T>C (p.Leu682Pro) c.1910T>C (p.Leu637Pro) c.2051T>C (p.Leu684Pro) n.2226T>C | |
1 | g.247425494T>G | CA345558538 | NLRP3 | c.2045T>G (p.Leu682Arg) c.1910T>G (p.Leu637Arg) c.2051T>G (p.Leu684Arg) n.2226T>G | |
1 | g.247425495C>A | CA424583027 | NLRP3 | c.2046C>A (p.Leu682=) c.1911C>A (p.Leu637=) c.2052C>A (p.Leu684=) n.2227C>A | |
1 | g.247425495C= | CA1232099270 | NLRP3 | c.2046C= (p.Leu682=) c.1911C= (p.Leu637=) c.2052C= (p.Leu684=) n.2227C= | |
1 | g.247425495C>G | CA424583028 | NLRP3 | c.2046C>G (p.Leu682=) c.1911C>G (p.Leu637=) c.2052C>G (p.Leu684=) n.2227C>G | |
1 | g.247425495C>T | CA1495104 | NLRP3 | c.2046C>T (p.Leu682=) c.1911C>T (p.Leu637=) c.2052C>T (p.Leu684=) n.2227C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425496C>A | CA345558539 | NLRP3 | c.2047C>A (p.His683Asn) c.1912C>A (p.His638Asn) c.2053C>A (p.His685Asn) n.2228C>A | gnomAD v4 |
1 | g.247425496C>G | CA345558540 | NLRP3 | c.2047C>G (p.His683Asp) c.1912C>G (p.His638Asp) c.2053C>G (p.His685Asp) n.2228C>G | |
1 | g.247425496C>T | CA345558541 | NLRP3 | c.2047C>T (p.His683Tyr) c.1912C>T (p.His638Tyr) c.2053C>T (p.His685Tyr) n.2228C>T | ClinVar dbSNP gnomAD v4 |
1 | g.247425497A= | CA1232099276 | NLRP3 | c.2048A= (p.His683=) c.1913A= (p.His638=) c.2054A= (p.His685=) n.2229A= | |
1 | g.247425497A>C | CA345558542 | NLRP3 | c.2048A>C (p.His683Pro) c.1913A>C (p.His638Pro) c.2054A>C (p.His685Pro) n.2229A>C | COSMIC |
1 | g.247425497A>G | CA345558543 | NLRP3 | c.2048A>G (p.His683Arg) c.1913A>G (p.His638Arg) c.2054A>G (p.His685Arg) n.2229A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425497A>T | CA345558544 | NLRP3 | c.2048A>T (p.His683Leu) c.1913A>T (p.His638Leu) c.2054A>T (p.His685Leu) n.2229A>T | |
1 | g.247425498T>A | CA345558546 | NLRP3 | c.2049T>A (p.His683Gln) c.1914T>A (p.His638Gln) c.2055T>A (p.His685Gln) n.2230T>A | |
1 | g.247425498T>C | CA424583029 | NLRP3 | c.2049T>C (p.His683=) c.1914T>C (p.His638=) c.2055T>C (p.His685=) n.2230T>C | |
1 | g.247425498T>G | CA345558545 | NLRP3 | c.2049T>G (p.His683Gln) c.1914T>G (p.His638Gln) c.2055T>G (p.His685Gln) n.2230T>G | ClinVar |
1 | g.247425499A= | CA1232099279 | NLRP3 | c.2050A= (p.Asn684=) c.1915A= (p.Asn639=) c.2056A= (p.Asn686=) n.2231A= | |
1 | g.247425499A>C | CA345558547 | NLRP3 | c.2050A>C (p.Asn684His) c.1915A>C (p.Asn639His) c.2056A>C (p.Asn686His) n.2231A>C | |
1 | g.247425499A>G | CA345558548 | NLRP3 | c.2050A>G (p.Asn684Asp) c.1915A>G (p.Asn639Asp) c.2056A>G (p.Asn686Asp) n.2231A>G | ClinVar dbSNP gnomAD v4 |
1 | g.247425499A>T | CA345558549 | NLRP3 | c.2050A>T (p.Asn684Tyr) c.1915A>T (p.Asn639Tyr) c.2056A>T (p.Asn686Tyr) n.2231A>T | |
1 | g.247425500A>C | CA345558550 | NLRP3 | c.2051A>C (p.Asn684Thr) c.1916A>C (p.Asn639Thr) c.2057A>C (p.Asn686Thr) n.2232A>C | |
1 | g.247425500A>G | CA345558551 | NLRP3 | c.2051A>G (p.Asn684Ser) c.1916A>G (p.Asn639Ser) c.2057A>G (p.Asn686Ser) n.2232A>G | |
1 | g.247425500A>T | CA345558552 | NLRP3 | c.2051A>T (p.Asn684Ile) c.1916A>T (p.Asn639Ile) c.2057A>T (p.Asn686Ile) n.2232A>T | gnomAD v4 |
1 | g.247425501C>A | CA345558553 | NLRP3 | c.2052C>A (p.Asn684Lys) c.1917C>A (p.Asn639Lys) c.2058C>A (p.Asn686Lys) n.2233C>A | |
1 | g.247425501C>G | CA345558554 | NLRP3 | c.2052C>G (p.Asn684Lys) c.1917C>G (p.Asn639Lys) c.2058C>G (p.Asn686Lys) n.2233C>G | |
1 | g.247425501C>T | CA424583030 | NLRP3 | c.2052C>T (p.Asn684=) c.1917C>T (p.Asn639=) c.2058C>T (p.Asn686=) n.2233C>T | |
1 | g.247425502A>C | CA345558555 | NLRP3 | c.2053A>C (p.Met685Leu) c.1918A>C (p.Met640Leu) c.2059A>C (p.Met687Leu) n.2234A>C | |
1 | g.247425502A>G | CA345558556 | NLRP3 | c.2053A>G (p.Met685Val) c.1918A>G (p.Met640Val) c.2059A>G (p.Met687Val) n.2234A>G | |
1 | g.247425502A>T | CA345558557 | NLRP3 | c.2053A>T (p.Met685Leu) c.1918A>T (p.Met640Leu) c.2059A>T (p.Met687Leu) n.2234A>T | |
1 | g.247425503T>A | CA345558558 | NLRP3 | c.2054T>A (p.Met685Lys) c.1919T>A (p.Met640Lys) c.2060T>A (p.Met687Lys) n.2235T>A | |
1 | g.247425503T>C | CA345558559 | NLRP3 | c.2054T>C (p.Met685Thr) c.1919T>C (p.Met640Thr) c.2060T>C (p.Met687Thr) n.2235T>C | |
1 | g.247425503T>G | CA345558560 | NLRP3 | c.2054T>G (p.Met685Arg) c.1919T>G (p.Met640Arg) c.2060T>G (p.Met687Arg) n.2235T>G | |
1 | g.247425504G>A | CA345558562 | NLRP3 | c.2055G>A (p.Met685Ile) c.1920G>A (p.Met640Ile) c.2061G>A (p.Met687Ile) n.2236G>A | gnomAD v4 |
1 | g.247425504G>C | CA345558563 | NLRP3 | c.2055G>C (p.Met685Ile) c.1920G>C (p.Met640Ile) c.2061G>C (p.Met687Ile) n.2236G>C | COSMIC |
1 | g.247425504G>T | CA345558561 | NLRP3 | c.2055G>T (p.Met685Ile) c.1920G>T (p.Met640Ile) c.2061G>T (p.Met687Ile) n.2236G>T | |
1 | g.247425505C>A | CA345558565 | NLRP3 | c.2056C>A (p.Pro686Thr) c.1921C>A (p.Pro641Thr) c.2062C>A (p.Pro688Thr) n.2237C>A | |
1 | g.247425505C= | CA1232099281 | NLRP3 | c.2056C= (p.Pro686=) c.1921C= (p.Pro641=) c.2062C= (p.Pro688=) n.2237C= | |
1 | g.247425505C>G | CA345558564 | NLRP3 | c.2056C>G (p.Pro686Ala) c.1921C>G (p.Pro641Ala) c.2062C>G (p.Pro688Ala) n.2237C>G | |
1 | g.247425505C>T | CA345558566 | NLRP3 | c.2056C>T (p.Pro686Ser) c.1921C>T (p.Pro641Ser) c.2062C>T (p.Pro688Ser) n.2237C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425506C>A | CA345558567 | NLRP3 | c.2057C>A (p.Pro686His) c.1922C>A (p.Pro641His) c.2063C>A (p.Pro688His) n.2238C>A | |
1 | g.247425506C>G | CA345558568 | NLRP3 | c.2057C>G (p.Pro686Arg) c.1922C>G (p.Pro641Arg) c.2063C>G (p.Pro688Arg) n.2238C>G | |
1 | g.247425506C>T | CA345558569 | NLRP3 | c.2057C>T (p.Pro686Leu) c.1922C>T (p.Pro641Leu) c.2063C>T (p.Pro688Leu) n.2238C>T | |
1 | g.247425507C>A | CA424583031 | NLRP3 | c.2058C>A (p.Pro686=) c.1923C>A (p.Pro641=) c.2064C>A (p.Pro688=) n.2239C>A | |
1 | g.247425507C= | CA1232099284 | NLRP3 | c.2058C= (p.Pro686=) c.1923C= (p.Pro641=) c.2064C= (p.Pro688=) n.2239C= | |
1 | g.247425507C>G | CA424583032 | NLRP3 | c.2058C>G (p.Pro686=) c.1923C>G (p.Pro641=) c.2064C>G (p.Pro688=) n.2239C>G | |
1 | g.247425507C>T | CA1495105 | NLRP3 | c.2058C>T (p.Pro686=) c.1923C>T (p.Pro641=) c.2064C>T (p.Pro688=) n.2239C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425508A= | CA1232099285 | NLRP3 | c.2059A= (p.Lys687=) c.1924A= (p.Lys642=) c.2065A= (p.Lys689=) n.2240A= | |
1 | g.247425508A>C | CA345558570 | NLRP3 | c.2059A>C (p.Lys687Gln) c.1924A>C (p.Lys642Gln) c.2065A>C (p.Lys689Gln) n.2240A>C | |
1 | g.247425508A>G | CA345558571 | NLRP3 | c.2059A>G (p.Lys687Glu) c.1924A>G (p.Lys642Glu) c.2065A>G (p.Lys689Glu) n.2240A>G | dbSNP |
1 | g.247425508A>T | CA345558572 | NLRP3 | c.2059A>T (p.Lys687Ter) c.1924A>T (p.Lys642Ter) c.2065A>T (p.Lys689Ter) n.2240A>T | |
1 | g.247425509A= | CA1145808401 | NLRP3 | c.2060A= (p.Lys687=) c.1925A= (p.Lys642=) c.2066A= (p.Lys689=) n.2241A= | |
1 | g.247425509A>C | CA345558573 | NLRP3 | c.2060A>C (p.Lys687Thr) c.1925A>C (p.Lys642Thr) c.2066A>C (p.Lys689Thr) n.2241A>C | |
1 | g.247425509A>G | CA1495106 | NLRP3 | c.2060A>G (p.Lys687Arg) c.1925A>G (p.Lys642Arg) c.2066A>G (p.Lys689Arg) n.2241A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425509A>T | CA345558574 | NLRP3 | c.2060A>T (p.Lys687Met) c.1925A>T (p.Lys642Met) c.2066A>T (p.Lys689Met) n.2241A>T | COSMIC |
1 | g.247425510G>A | CA424583033 | NLRP3 | c.2061G>A (p.Lys687=) c.1926G>A (p.Lys642=) c.2067G>A (p.Lys689=) n.2242G>A | COSMIC |
1 | g.247425510G>C | CA345558575 | NLRP3 | c.2061G>C (p.Lys687Asn) c.1926G>C (p.Lys642Asn) c.2067G>C (p.Lys689Asn) n.2242G>C | |
1 | g.247425510G>T | CA345558576 | NLRP3 | c.2061G>T (p.Lys687Asn) c.1926G>T (p.Lys642Asn) c.2067G>T (p.Lys689Asn) n.2242G>T | |
1 | g.247425511G>A | CA281294 | NLRP3 | c.2062G>A (p.Glu688Lys) c.1927G>A (p.Glu643Lys) c.2068G>A (p.Glu690Lys) n.2243G>A | ClinVar dbSNP COSMIC |
1 | g.247425511G>C | CA345558577 | NLRP3 | c.2062G>C (p.Glu688Gln) c.1927G>C (p.Glu643Gln) c.2068G>C (p.Glu690Gln) n.2243G>C | |
1 | g.247425511G= | CA1141189467 | NLRP3 | c.2062G= (p.Glu688=) c.1927G= (p.Glu643=) c.2068G= (p.Glu690=) n.2243G= | |
1 | g.247425511G>T | CA345558578 | NLRP3 | c.2062G>T (p.Glu688Ter) c.1927G>T (p.Glu643Ter) c.2068G>T (p.Glu690Ter) n.2243G>T | |
1 | g.247425512A>C | CA345558579 | NLRP3 | c.2063A>C (p.Glu688Ala) c.1928A>C (p.Glu643Ala) c.2069A>C (p.Glu690Ala) n.2244A>C | |
1 | g.247425512A>G | CA345558580 | NLRP3 | c.2063A>G (p.Glu688Gly) c.1928A>G (p.Glu643Gly) c.2069A>G (p.Glu690Gly) n.2244A>G | |
1 | g.247425512A>T | CA345558581 | NLRP3 | c.2063A>T (p.Glu688Val) c.1928A>T (p.Glu643Val) c.2069A>T (p.Glu690Val) n.2244A>T | gnomAD v4 |
1 | g.247425513G>A | CA40692500 | NLRP3 | c.2064G>A (p.Glu688=) c.1929G>A (p.Glu643=) c.2070G>A (p.Glu690=) n.2245G>A | dbSNP gnomAD v4 |
1 | g.247425513G>C | CA345558582 | NLRP3 | c.2064G>C (p.Glu688Asp) c.1929G>C (p.Glu643Asp) c.2070G>C (p.Glu690Asp) n.2245G>C | |
1 | g.247425513G= | CA1232099302 | NLRP3 | c.2064G= (p.Glu688=) c.1929G= (p.Glu643=) c.2070G= (p.Glu690=) n.2245G= | |
1 | g.247425513G>T | CA345558583 | NLRP3 | c.2064G>T (p.Glu688Asp) c.1929G>T (p.Glu643Asp) c.2070G>T (p.Glu690Asp) n.2245G>T | |
1 | g.247425514G>A | CA345558584 | NLRP3 | c.2065G>A (p.Glu689Lys) c.1930G>A (p.Glu644Lys) c.2071G>A (p.Glu691Lys) n.2246G>A | COSMIC |
1 | g.247425514G>C | CA345558585 | NLRP3 | c.2065G>C (p.Glu689Gln) c.1930G>C (p.Glu644Gln) c.2071G>C (p.Glu691Gln) n.2246G>C | |
1 | g.247425514G>T | CA345558586 | NLRP3 | c.2065G>T (p.Glu689Ter) c.1930G>T (p.Glu644Ter) c.2071G>T (p.Glu691Ter) n.2246G>T | |
1 | g.247425515A>C | CA345558587 | NLRP3 | c.2066A>C (p.Glu689Ala) c.1931A>C (p.Glu644Ala) c.2072A>C (p.Glu691Ala) n.2247A>C | |
1 | g.247425515A>G | CA345558588 | NLRP3 | c.2066A>G (p.Glu689Gly) c.1931A>G (p.Glu644Gly) c.2072A>G (p.Glu691Gly) n.2247A>G | |
1 | g.247425515A>T | CA345558589 | NLRP3 | c.2066A>T (p.Glu689Val) c.1931A>T (p.Glu644Val) c.2072A>T (p.Glu691Val) n.2247A>T | |
1 | g.247425516A>C | CA345558591 | NLRP3 | c.2067A>C (p.Glu689Asp) c.1932A>C (p.Glu644Asp) c.2073A>C (p.Glu691Asp) n.2248A>C | |
1 | g.247425516A>G | CA424583034 | NLRP3 | c.2067A>G (p.Glu689=) c.1932A>G (p.Glu644=) c.2073A>G (p.Glu691=) n.2248A>G | |
1 | g.247425516A>T | CA345558590 | NLRP3 | c.2067A>T (p.Glu689Asp) c.1932A>T (p.Glu644Asp) c.2073A>T (p.Glu691Asp) n.2248A>T | |
1 | g.247425517G>A | CA281298 | NLRP3 | c.2068G>A (p.Glu690Lys) c.1933G>A (p.Glu645Lys) c.2074G>A (p.Glu692Lys) n.2249G>A | ClinVar dbSNP |
1 | g.247425517G>C | CA345558592 | NLRP3 | c.2068G>C (p.Glu690Gln) c.1933G>C (p.Glu645Gln) c.2074G>C (p.Glu692Gln) n.2249G>C | |
1 | g.247425517G= | CA1142421427 | NLRP3 | c.2068G= (p.Glu690=) c.1933G= (p.Glu645=) c.2074G= (p.Glu692=) n.2249G= | |
1 | g.247425517G>T | CA345558593 | NLRP3 | c.2068G>T (p.Glu690Ter) c.1933G>T (p.Glu645Ter) c.2074G>T (p.Glu692Ter) n.2249G>T | ClinVar |