Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.247425518A>C | CA345558594 | NLRP3 | c.2069A>C (p.Glu690Ala) c.1934A>C (p.Glu645Ala) c.2075A>C (p.Glu692Ala) n.2250A>C | |
1 | g.247425518A>G | CA345558595 | NLRP3 | c.2069A>G (p.Glu690Gly) c.1934A>G (p.Glu645Gly) c.2075A>G (p.Glu692Gly) n.2250A>G | |
1 | g.247425518A>T | CA345558596 | NLRP3 | c.2069A>T (p.Glu690Val) c.1934A>T (p.Glu645Val) c.2075A>T (p.Glu692Val) n.2250A>T | |
1 | g.247425519G>A | CA424583035 | NLRP3 | c.2070G>A (p.Glu690=) c.1935G>A (p.Glu645=) c.2076G>A (p.Glu692=) n.2251G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425519G>C | CA345558597 | NLRP3 | c.2070G>C (p.Glu690Asp) c.1935G>C (p.Glu645Asp) c.2076G>C (p.Glu692Asp) n.2251G>C | |
1 | g.247425519G= | CA1232099311 | NLRP3 | c.2070G= (p.Glu690=) c.1935G= (p.Glu645=) c.2076G= (p.Glu692=) n.2251G= | |
1 | g.247425519G>T | CA345558598 | NLRP3 | c.2070G>T (p.Glu690Asp) c.1935G>T (p.Glu645Asp) c.2076G>T (p.Glu692Asp) n.2251G>T | |
1 | g.247425520G>A | CA40692501 | NLRP3 | c.2071G>A (p.Glu691Lys) c.1936G>A (p.Glu646Lys) c.2077G>A (p.Glu693Lys) n.2252G>A | ClinVar dbSNP |
1 | g.247425520G>C | CA345558599 | NLRP3 | c.2071G>C (p.Glu691Gln) c.1936G>C (p.Glu646Gln) c.2077G>C (p.Glu693Gln) n.2252G>C | |
1 | g.247425520G= | CA1232099323 | NLRP3 | c.2071G= (p.Glu691=) c.1936G= (p.Glu646=) c.2077G= (p.Glu693=) n.2252G= | |
1 | g.247425520G>T | CA345558600 | NLRP3 | c.2071G>T (p.Glu691Ter) c.1936G>T (p.Glu646Ter) c.2077G>T (p.Glu693Ter) n.2252G>T | |
1 | g.247425521A>C | CA345558601 | NLRP3 | c.2072A>C (p.Glu691Ala) c.1937A>C (p.Glu646Ala) c.2078A>C (p.Glu693Ala) n.2253A>C | |
1 | g.247425521A>G | CA345558602 | NLRP3 | c.2072A>G (p.Glu691Gly) c.1937A>G (p.Glu646Gly) c.2078A>G (p.Glu693Gly) n.2253A>G | |
1 | g.247425521A>T | CA345558603 | NLRP3 | c.2072A>T (p.Glu691Val) c.1937A>T (p.Glu646Val) c.2078A>T (p.Glu693Val) n.2253A>T | |
1 | g.247425522G>A | CA424583036 | NLRP3 | c.2073G>A (p.Glu691=) c.1938G>A (p.Glu646=) c.2079G>A (p.Glu693=) n.2254G>A | dbSNP gnomAD v4 |
1 | g.247425522G>C | CA345558605 | NLRP3 | c.2073G>C (p.Glu691Asp) c.1938G>C (p.Glu646Asp) c.2079G>C (p.Glu693Asp) n.2254G>C | |
1 | g.247425522G= | CA1232099329 | NLRP3 | c.2073G= (p.Glu691=) c.1938G= (p.Glu646=) c.2079G= (p.Glu693=) n.2254G= | |
1 | g.247425522G>T | CA345558604 | NLRP3 | c.2073G>T (p.Glu691Asp) c.1938G>T (p.Glu646Asp) c.2079G>T (p.Glu693Asp) n.2254G>T | COSMIC |
1 | g.247425523G>A | CA345558606 | NLRP3 | c.2074G>A (p.Glu692Lys) c.1939G>A (p.Glu647Lys) c.2080G>A (p.Glu694Lys) n.2255G>A | |
1 | g.247425523G>C | CA345558607 | NLRP3 | c.2074G>C (p.Glu692Gln) c.1939G>C (p.Glu647Gln) c.2080G>C (p.Glu694Gln) n.2255G>C | |
1 | g.247425523G>T | CA345558608 | NLRP3 | c.2074G>T (p.Glu692Ter) c.1939G>T (p.Glu647Ter) c.2080G>T (p.Glu694Ter) n.2255G>T | |
1 | g.247425524A>C | CA345558609 | NLRP3 | c.2075A>C (p.Glu692Ala) c.1940A>C (p.Glu647Ala) c.2081A>C (p.Glu694Ala) n.2256A>C | |
1 | g.247425524A>G | CA345558610 | NLRP3 | c.2075A>G (p.Glu692Gly) c.1940A>G (p.Glu647Gly) c.2081A>G (p.Glu694Gly) n.2256A>G | |
1 | g.247425524A>T | CA345558611 | NLRP3 | c.2075A>T (p.Glu692Val) c.1940A>T (p.Glu647Val) c.2081A>T (p.Glu694Val) n.2256A>T | |
1 | g.247425525G>A | CA424583037 | NLRP3 | c.2076G>A (p.Glu692=) c.1941G>A (p.Glu647=) c.2082G>A (p.Glu694=) n.2257G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425525G>C | CA345558612 | NLRP3 | c.2076G>C (p.Glu692Asp) c.1941G>C (p.Glu647Asp) c.2082G>C (p.Glu694Asp) n.2257G>C | |
1 | g.247425525G= | CA1232099333 | NLRP3 | c.2076G= (p.Glu692=) c.1941G= (p.Glu647=) c.2082G= (p.Glu694=) n.2257G= | |
1 | g.247425525G>T | CA345558613 | NLRP3 | c.2076G>T (p.Glu692Asp) c.1941G>T (p.Glu647Asp) c.2082G>T (p.Glu694Asp) n.2257G>T | |
1 | g.247425526G>A | CA345558614 | NLRP3 | c.2077G>A (p.Glu693Lys) c.1942G>A (p.Glu648Lys) c.2083G>A (p.Glu695Lys) n.2258G>A | gnomAD v4 |
1 | g.247425526G>C | CA345558615 | NLRP3 | c.2077G>C (p.Glu693Gln) c.1942G>C (p.Glu648Gln) c.2083G>C (p.Glu695Gln) n.2258G>C | |
1 | g.247425526G>T | CA345558616 | NLRP3 | c.2077G>T (p.Glu693Ter) c.1942G>T (p.Glu648Ter) c.2083G>T (p.Glu695Ter) n.2258G>T | |
1 | g.247425527A>C | CA345558617 | NLRP3 | c.2078A>C (p.Glu693Ala) c.1943A>C (p.Glu648Ala) c.2084A>C (p.Glu695Ala) n.2259A>C | |
1 | g.247425527A>G | CA345558618 | NLRP3 | c.2078A>G (p.Glu693Gly) c.1943A>G (p.Glu648Gly) c.2084A>G (p.Glu695Gly) n.2259A>G | |
1 | g.247425527A>T | CA345558619 | NLRP3 | c.2078A>T (p.Glu693Val) c.1943A>T (p.Glu648Val) c.2084A>T (p.Glu695Val) n.2259A>T | |
1 | g.247425528A>C | CA345558620 | NLRP3 | c.2079A>C (p.Glu693Asp) c.1944A>C (p.Glu648Asp) c.2085A>C (p.Glu695Asp) n.2260A>C | |
1 | g.247425528A>G | CA424583038 | NLRP3 | c.2079A>G (p.Glu693=) c.1944A>G (p.Glu648=) c.2085A>G (p.Glu695=) n.2260A>G | |
1 | g.247425528A>T | CA345558621 | NLRP3 | c.2079A>T (p.Glu693Asp) c.1944A>T (p.Glu648Asp) c.2085A>T (p.Glu695Asp) n.2260A>T | |
1 | g.247425529A>C | CA345558622 | NLRP3 | c.2080A>C (p.Lys694Gln) c.1945A>C (p.Lys649Gln) c.2086A>C (p.Lys696Gln) n.2261A>C | |
1 | g.247425529A>G | CA345558624 | NLRP3 | c.2080A>G (p.Lys694Glu) c.1945A>G (p.Lys649Glu) c.2086A>G (p.Lys696Glu) n.2261A>G | gnomAD v4 |
1 | g.247425529A>T | CA345558623 | NLRP3 | c.2080A>T (p.Lys694Ter) c.1945A>T (p.Lys649Ter) c.2086A>T (p.Lys696Ter) n.2261A>T | |
1 | g.247425530A= | CA1147205187 | NLRP3 | c.2081A= (p.Lys694=) c.1946A= (p.Lys649=) c.2087A= (p.Lys696=) n.2262A= | |
1 | g.247425530A>C | CA345558625 | NLRP3 | c.2081A>C (p.Lys694Thr) c.1946A>C (p.Lys649Thr) c.2087A>C (p.Lys696Thr) n.2262A>C | |
1 | g.247425530A>G | CA1495107 | NLRP3 | c.2081A>G (p.Lys694Arg) c.1946A>G (p.Lys649Arg) c.2087A>G (p.Lys696Arg) n.2262A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425530A>T | CA345558626 | NLRP3 | c.2081A>T (p.Lys694Met) c.1946A>T (p.Lys649Met) c.2087A>T (p.Lys696Met) n.2262A>T | |
1 | g.247425531G>A | CA424583039 | NLRP3 | c.2082G>A (p.Lys694=) c.1947G>A (p.Lys649=) c.2088G>A (p.Lys696=) n.2263G>A | COSMIC |
1 | g.247425531G>C | CA345558627 | NLRP3 | c.2082G>C (p.Lys694Asn) c.1947G>C (p.Lys649Asn) c.2088G>C (p.Lys696Asn) n.2263G>C | ClinVar dbSNP |
1 | g.247425531G>T | CA345558628 | NLRP3 | c.2082G>T (p.Lys694Asn) c.1947G>T (p.Lys649Asn) c.2088G>T (p.Lys696Asn) n.2263G>T | |
1 | g.247425532G>A | CA345558629 | NLRP3 | c.2083G>A (p.Glu695Lys) c.1948G>A (p.Glu650Lys) c.2089G>A (p.Glu697Lys) n.2264G>A | |
1 | g.247425532G>C | CA345558630 | NLRP3 | c.2083G>C (p.Glu695Gln) c.1948G>C (p.Glu650Gln) c.2089G>C (p.Glu697Gln) n.2264G>C | |
1 | g.247425532G>T | CA345558631 | NLRP3 | c.2083G>T (p.Glu695Ter) c.1948G>T (p.Glu650Ter) c.2089G>T (p.Glu697Ter) n.2264G>T | |
1 | g.247425533A= | CA1232099341 | NLRP3 | c.2084A= (p.Glu695=) c.1949A= (p.Glu650=) c.2090A= (p.Glu697=) n.2265A= | |
1 | g.247425533A>C | CA345558632 | NLRP3 | c.2084A>C (p.Glu695Ala) c.1949A>C (p.Glu650Ala) c.2090A>C (p.Glu697Ala) n.2265A>C | |
1 | g.247425533A>G | CA345558633 | NLRP3 | c.2084A>G (p.Glu695Gly) c.1949A>G (p.Glu650Gly) c.2090A>G (p.Glu697Gly) n.2265A>G | dbSNP |
1 | g.247425533A>T | CA345558634 | NLRP3 | c.2084A>T (p.Glu695Val) c.1949A>T (p.Glu650Val) c.2090A>T (p.Glu697Val) n.2265A>T | |
1 | g.247425534_247425557del | CA2651421451 | NLRP3 | c.2085_2108del (p.Gly696_Gln703del) c.1950_1973del (p.Gly651_Gln658del) c.2091_2114del (p.Gly698_Gln705del) n.2266_2289del | gnomAD v4 |
1 | g.247425534A= | CA1232099345 | NLRP3 | c.2085A= (p.Glu695=) c.1950A= (p.Glu650=) c.2091A= (p.Glu697=) n.2266A= | |
1 | g.247425534A>C | CA345558636 | NLRP3 | c.2085A>C (p.Glu695Asp) c.1950A>C (p.Glu650Asp) c.2091A>C (p.Glu697Asp) n.2266A>C | |
1 | g.247425534A>G | CA1495108 | NLRP3 | c.2085A>G (p.Glu695=) c.1950A>G (p.Glu650=) c.2091A>G (p.Glu697=) n.2266A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425534A>T | CA345558635 | NLRP3 | c.2085A>T (p.Glu695Asp) c.1950A>T (p.Glu650Asp) c.2091A>T (p.Glu697Asp) n.2266A>T | gnomAD v4 COSMIC |
1 | g.247425535G>A | CA345558637 | NLRP3 | c.2086G>A (p.Gly696Ser) c.1951G>A (p.Gly651Ser) c.2092G>A (p.Gly698Ser) n.2267G>A | dbSNP COSMIC |
1 | g.247425535G>C | CA345558638 | NLRP3 | c.2086G>C (p.Gly696Arg) c.1951G>C (p.Gly651Arg) c.2092G>C (p.Gly698Arg) n.2267G>C | |
1 | g.247425535G= | CA1232099350 | NLRP3 | c.2086G= (p.Gly696=) c.1951G= (p.Gly651=) c.2092G= (p.Gly698=) n.2267G= | |
1 | g.247425535G>T | CA345558639 | NLRP3 | c.2086G>T (p.Gly696Cys) c.1951G>T (p.Gly651Cys) c.2092G>T (p.Gly698Cys) n.2267G>T | dbSNP |
1 | g.247425536G>A | CA40692527 | NLRP3 | c.2087G>A (p.Gly696Asp) c.1952G>A (p.Gly651Asp) c.2093G>A (p.Gly698Asp) n.2268G>A | dbSNP COSMIC |
1 | g.247425536G>C | CA345558640 | NLRP3 | c.2087G>C (p.Gly696Ala) c.1952G>C (p.Gly651Ala) c.2093G>C (p.Gly698Ala) n.2268G>C | |
1 | g.247425536G= | CA1143421126 | NLRP3 | c.2087G= (p.Gly696=) c.1952G= (p.Gly651=) c.2093G= (p.Gly698=) n.2268G= | |
1 | g.247425536G>T | CA345558641 | NLRP3 | c.2087G>T (p.Gly696Val) c.1952G>T (p.Gly651Val) c.2093G>T (p.Gly698Val) n.2268G>T | ClinVar gnomAD v4 |
1 | g.247425537C>A | CA424416531 | NLRP3 | c.2088C>A (p.Gly696=) c.1953C>A (p.Gly651=) c.2094C>A (p.Gly698=) n.2269C>A | COSMIC |
1 | g.247425537C>G | CA424416532 | NLRP3 | c.2088C>G (p.Gly696=) c.1953C>G (p.Gly651=) c.2094C>G (p.Gly698=) n.2269C>G | |
1 | g.247425537C>T | CA424416533 | NLRP3 | c.2088C>T (p.Gly696=) c.1953C>T (p.Gly651=) c.2094C>T (p.Gly698=) n.2269C>T | |
1 | g.247425538C>A | CA424416534 | NLRP3 | c.2089C>A (p.Arg697=) c.1954C>A (p.Arg652=) c.2095C>A (p.Arg699=) n.2270C>A | COSMIC |
1 | g.247425538C= | CA1232099358 | NLRP3 | c.2089C= (p.Arg697=) c.1954C= (p.Arg652=) c.2095C= (p.Arg699=) n.2270C= | |
1 | g.247425538C>G | CA345558642 | NLRP3 | c.2089C>G (p.Arg697Gly) c.1954C>G (p.Arg652Gly) c.2095C>G (p.Arg699Gly) n.2270C>G | gnomAD v4 |
1 | g.247425538C>T | CA345558643 | NLRP3 | c.2089C>T (p.Arg697Ter) c.1954C>T (p.Arg652Ter) c.2095C>T (p.Arg699Ter) n.2270C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425539G>A | CA1495109 | NLRP3 | c.2090G>A (p.Arg697Gln) c.1955G>A (p.Arg652Gln) c.2096G>A (p.Arg699Gln) n.2271G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.247425539G>C | CA345558644 | NLRP3 | c.2090G>C (p.Arg697Pro) c.1955G>C (p.Arg652Pro) c.2096G>C (p.Arg699Pro) n.2271G>C | |
1 | g.247425539G= | CA1148404856 | NLRP3 | c.2090G= (p.Arg697=) c.1955G= (p.Arg652=) c.2096G= (p.Arg699=) n.2271G= | |
1 | g.247425539G>T | CA345558645 | NLRP3 | c.2090G>T (p.Arg697Leu) c.1955G>T (p.Arg652Leu) c.2096G>T (p.Arg699Leu) n.2271G>T | |
1 | g.247425540A= | CA1143477818 | NLRP3 | c.2091A= (p.Arg697=) c.1956A= (p.Arg652=) c.2097A= (p.Arg699=) n.2272A= | |
1 | g.247425540A>C | CA424416536 | NLRP3 | c.2091A>C (p.Arg697=) c.1956A>C (p.Arg652=) c.2097A>C (p.Arg699=) n.2272A>C | |
1 | g.247425540A>G | CA40692533 | NLRP3 | c.2091A>G (p.Arg697=) c.1956A>G (p.Arg652=) c.2097A>G (p.Arg699=) n.2272A>G | dbSNP gnomAD v4 |
1 | g.247425540A>T | CA424416539 | NLRP3 | c.2091A>T (p.Arg697=) c.1956A>T (p.Arg652=) c.2097A>T (p.Arg699=) n.2272A>T | |
1 | g.247425541C>A | CA345558648 | NLRP3 | c.2092C>A (p.His698Asn) c.1957C>A (p.His653Asn) c.2098C>A (p.His700Asn) n.2273C>A | |
1 | g.247425541C>G | CA345558647 | NLRP3 | c.2092C>G (p.His698Asp) c.1957C>G (p.His653Asp) c.2098C>G (p.His700Asp) n.2273C>G | |
1 | g.247425541C>T | CA345558646 | NLRP3 | c.2092C>T (p.His698Tyr) c.1957C>T (p.His653Tyr) c.2098C>T (p.His700Tyr) n.2273C>T | |
1 | g.247425542A= | CA1232099369 | NLRP3 | c.2093A= (p.His698=) c.1958A= (p.His653=) c.2099A= (p.His700=) n.2274A= | |
1 | g.247425542A>C | CA345558649 | NLRP3 | c.2093A>C (p.His698Pro) c.1958A>C (p.His653Pro) c.2099A>C (p.His700Pro) n.2274A>C | |
1 | g.247425542A>G | CA345558650 | NLRP3 | c.2093A>G (p.His698Arg) c.1958A>G (p.His653Arg) c.2099A>G (p.His700Arg) n.2274A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425542A>T | CA345558651 | NLRP3 | c.2093A>T (p.His698Leu) c.1958A>T (p.His653Leu) c.2099A>T (p.His700Leu) n.2274A>T | |
1 | g.247425543C>A | CA345558652 | NLRP3 | c.2094C>A (p.His698Gln) c.1959C>A (p.His653Gln) c.2100C>A (p.His700Gln) n.2275C>A | |
1 | g.247425543C= | CA1232099375 | NLRP3 | c.2094C= (p.His698=) c.1959C= (p.His653=) c.2100C= (p.His700=) n.2275C= | |
1 | g.247425543C>G | CA345558653 | NLRP3 | c.2094C>G (p.His698Gln) c.1959C>G (p.His653Gln) c.2100C>G (p.His700Gln) n.2275C>G | |
1 | g.247425543C>T | CA424416541 | NLRP3 | c.2094C>T (p.His698=) c.1959C>T (p.His653=) c.2100C>T (p.His700=) n.2275C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425544C>A | CA345558655 | NLRP3 | c.2095C>A (p.Leu699Ile) c.1960C>A (p.Leu654Ile) c.2101C>A (p.Leu701Ile) n.2276C>A | |
1 | g.247425544C= | CA1144964899 | NLRP3 | c.2095C= (p.Leu699=) c.1960C= (p.Leu654=) c.2101C= (p.Leu701=) n.2276C= | |
1 | g.247425544C>G | CA345558654 | NLRP3 | c.2095C>G (p.Leu699Val) c.1960C>G (p.Leu654Val) c.2101C>G (p.Leu701Val) n.2276C>G | |
1 | g.247425544C>T | CA1495110 | NLRP3 | c.2095C>T (p.Leu699Phe) c.1960C>T (p.Leu654Phe) c.2101C>T (p.Leu701Phe) n.2276C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425545T>A | CA345558656 | NLRP3 | c.2096T>A (p.Leu699His) c.1961T>A (p.Leu654His) c.2102T>A (p.Leu701His) n.2277T>A | |
1 | g.247425545T>C | CA345558657 | NLRP3 | c.2096T>C (p.Leu699Pro) c.1961T>C (p.Leu654Pro) c.2102T>C (p.Leu701Pro) n.2277T>C | dbSNP |
1 | g.247425545T>G | CA345558658 | NLRP3 | c.2096T>G (p.Leu699Arg) c.1961T>G (p.Leu654Arg) c.2102T>G (p.Leu701Arg) n.2277T>G | |
1 | g.247425546T>A | CA424416544 | NLRP3 | c.2097T>A (p.Leu699=) c.1962T>A (p.Leu654=) c.2103T>A (p.Leu701=) n.2278T>A | |
1 | g.247425546T>C | CA424416545 | NLRP3 | c.2097T>C (p.Leu699=) c.1962T>C (p.Leu654=) c.2103T>C (p.Leu701=) n.2278T>C | |
1 | g.247425546T>G | CA424416546 | NLRP3 | c.2097T>G (p.Leu699=) c.1962T>G (p.Leu654=) c.2103T>G (p.Leu701=) n.2278T>G | gnomAD v4 |
1 | g.247425547G>A | CA1495111 | NLRP3 | c.2098G>A (p.Asp700Asn) c.1963G>A (p.Asp655Asn) c.2104G>A (p.Asp702Asn) n.2279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425547G>C | CA345558659 | NLRP3 | c.2098G>C (p.Asp700His) c.1963G>C (p.Asp655His) c.2104G>C (p.Asp702His) n.2279G>C | gnomAD v4 |
1 | g.247425547G= | CA1232099393 | NLRP3 | c.2098G= (p.Asp700=) c.1963G= (p.Asp655=) c.2104G= (p.Asp702=) n.2279G= | |
1 | g.247425547G>T | CA345558660 | NLRP3 | c.2098G>T (p.Asp700Tyr) c.1963G>T (p.Asp655Tyr) c.2104G>T (p.Asp702Tyr) n.2279G>T | |
1 | g.247425548A= | CA1232099406 | NLRP3 | c.2099A= (p.Asp700=) c.1964A= (p.Asp655=) c.2105A= (p.Asp702=) n.2280A= | |
1 | g.247425548A>C | CA345558661 | NLRP3 | c.2099A>C (p.Asp700Ala) c.1964A>C (p.Asp655Ala) c.2105A>C (p.Asp702Ala) n.2280A>C | |
1 | g.247425548A>G | CA345558663 | NLRP3 | c.2099A>G (p.Asp700Gly) c.1964A>G (p.Asp655Gly) c.2105A>G (p.Asp702Gly) n.2280A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425548A>T | CA345558662 | NLRP3 | c.2099A>T (p.Asp700Val) c.1964A>T (p.Asp655Val) c.2105A>T (p.Asp702Val) n.2280A>T | |
1 | g.247425549T>A | CA345558664 | NLRP3 | c.2100T>A (p.Asp700Glu) c.1965T>A (p.Asp655Glu) c.2106T>A (p.Asp702Glu) n.2281T>A | |
1 | g.247425549T>C | CA424416548 | NLRP3 | c.2100T>C (p.Asp700=) c.1965T>C (p.Asp655=) c.2106T>C (p.Asp702=) n.2281T>C | |
1 | g.247425549T>G | CA345558665 | NLRP3 | c.2100T>G (p.Asp700Glu) c.1965T>G (p.Asp655Glu) c.2106T>G (p.Asp702Glu) n.2281T>G | |
1 | g.247425550A>C | CA345558666 | NLRP3 | c.2101A>C (p.Met701Leu) c.1966A>C (p.Met656Leu) c.2107A>C (p.Met703Leu) n.2282A>C | |
1 | g.247425550A>G | CA345558667 | NLRP3 | c.2101A>G (p.Met701Val) c.1966A>G (p.Met656Val) c.2107A>G (p.Met703Val) n.2282A>G | ClinVar |
1 | g.247425550A>T | CA345558668 | NLRP3 | c.2101A>T (p.Met701Leu) c.1966A>T (p.Met656Leu) c.2107A>T (p.Met703Leu) n.2282A>T | |
1 | g.247425551T>A | CA345558669 | NLRP3 | c.2102T>A (p.Met701Lys) c.1967T>A (p.Met656Lys) c.2108T>A (p.Met703Lys) n.2283T>A | |
1 | g.247425551T>C | CA281302 | NLRP3 | c.2102T>C (p.Met701Thr) c.1967T>C (p.Met656Thr) c.2108T>C (p.Met703Thr) n.2283T>C | ClinVar dbSNP gnomAD v2 |
1 | g.247425551T>G | CA345558670 | NLRP3 | c.2102T>G (p.Met701Arg) c.1967T>G (p.Met656Arg) c.2108T>G (p.Met703Arg) n.2283T>G | |
1 | g.247425551T= | CA1142421428 | NLRP3 | c.2102T= (p.Met701=) c.1967T= (p.Met656=) c.2108T= (p.Met703=) n.2283T= | |
1 | g.247425552G>A | CA345558671 | NLRP3 | c.2103G>A (p.Met701Ile) c.1968G>A (p.Met656Ile) c.2109G>A (p.Met703Ile) n.2284G>A | |
1 | g.247425552G>C | CA345558672 | NLRP3 | c.2103G>C (p.Met701Ile) c.1968G>C (p.Met656Ile) c.2109G>C (p.Met703Ile) n.2284G>C | |
1 | g.247425552G>T | CA345558673 | NLRP3 | c.2103G>T (p.Met701Ile) c.1968G>T (p.Met656Ile) c.2109G>T (p.Met703Ile) n.2284G>T | |
1 | g.247425553G>A | CA345558676 | NLRP3 | c.2104G>A (p.Val702Met) c.1969G>A (p.Val657Met) c.2110G>A (p.Val704Met) n.2285G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425553G>C | CA345558675 | NLRP3 | c.2104G>C (p.Val702Leu) c.1969G>C (p.Val657Leu) c.2110G>C (p.Val704Leu) n.2285G>C | |
1 | g.247425553G= | CA1232099420 | NLRP3 | c.2104G= (p.Val702=) c.1969G= (p.Val657=) c.2110G= (p.Val704=) n.2285G= | |
1 | g.247425553G>T | CA345558674 | NLRP3 | c.2104G>T (p.Val702Leu) c.1969G>T (p.Val657Leu) c.2110G>T (p.Val704Leu) n.2285G>T | |
1 | g.247425554T>A | CA345558677 | NLRP3 | c.2105T>A (p.Val702Glu) c.1970T>A (p.Val657Glu) c.2111T>A (p.Val704Glu) n.2286T>A | |
1 | g.247425554T>C | CA345558679 | NLRP3 | c.2105T>C (p.Val702Ala) c.1970T>C (p.Val657Ala) c.2111T>C (p.Val704Ala) n.2286T>C | dbSNP |
1 | g.247425554T>G | CA345558678 | NLRP3 | c.2105T>G (p.Val702Gly) c.1970T>G (p.Val657Gly) c.2111T>G (p.Val704Gly) n.2286T>G | ClinVar COSMIC |
1 | g.247425554T= | CA1232099424 | NLRP3 | c.2105T= (p.Val702=) c.1970T= (p.Val657=) c.2111T= (p.Val704=) n.2286T= | |
1 | g.247425555G>A | CA40692537 | NLRP3 | c.2106G>A (p.Val702=) c.1971G>A (p.Val657=) c.2112G>A (p.Val704=) n.2287G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425555G>C | CA424416549 | NLRP3 | c.2106G>C (p.Val702=) c.1971G>C (p.Val657=) c.2112G>C (p.Val704=) n.2287G>C | COSMIC |
1 | g.247425555G= | CA1143516702 | NLRP3 | c.2106G= (p.Val702=) c.1971G= (p.Val657=) c.2112G= (p.Val704=) n.2287G= | |
1 | g.247425555G>T | CA424416550 | NLRP3 | c.2106G>T (p.Val702=) c.1971G>T (p.Val657=) c.2112G>T (p.Val704=) n.2287G>T | |
1 | g.247425556C>A | CA1495112 | NLRP3 | c.2107C>A (p.Gln703Lys) c.1972C>A (p.Gln658Lys) c.2113C>A (p.Gln705Lys) n.2288C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425556C= | CA1140592694 | NLRP3 | c.2107C= (p.Gln703=) c.1972C= (p.Gln658=) c.2113C= (p.Gln705=) n.2288C= | |
1 | g.247425556C>G | CA345558680 | NLRP3 | c.2107C>G (p.Gln703Glu) c.1972C>G (p.Gln658Glu) c.2113C>G (p.Gln705Glu) n.2288C>G | |
1 | g.247425556C>T | CA345558681 | NLRP3 | c.2107C>T (p.Gln703Ter) c.1972C>T (p.Gln658Ter) c.2113C>T (p.Gln705Ter) n.2288C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425557A>C | CA345558682 | NLRP3 | c.2108A>C (p.Gln703Pro) c.1973A>C (p.Gln658Pro) c.2114A>C (p.Gln705Pro) n.2289A>C | |
1 | g.247425557A>G | CA345558684 | NLRP3 | c.2108A>G (p.Gln703Arg) c.1973A>G (p.Gln658Arg) c.2114A>G (p.Gln705Arg) n.2289A>G | gnomAD v4 |
1 | g.247425557A>T | CA345558683 | NLRP3 | c.2108A>T (p.Gln703Leu) c.1973A>T (p.Gln658Leu) c.2114A>T (p.Gln705Leu) n.2289A>T | |
1 | g.247425558G>A | CA424416551 | NLRP3 | c.2109G>A (p.Gln703=) c.1974G>A (p.Gln658=) c.2115G>A (p.Gln705=) n.2290G>A | |
1 | g.247425558G>C | CA345558685 | NLRP3 | c.2109G>C (p.Gln703His) c.1974G>C (p.Gln658His) c.2115G>C (p.Gln705His) n.2290G>C | gnomAD v4 |
1 | g.247425558G= | CA1232099440 | NLRP3 | c.2109G= (p.Gln703=) c.1974G= (p.Gln658=) c.2115G= (p.Gln705=) n.2290G= | |
1 | g.247425558G>T | CA345558686 | NLRP3 | c.2109G>T (p.Gln703His) c.1974G>T (p.Gln658His) c.2115G>T (p.Gln705His) n.2290G>T | ClinVar dbSNP gnomAD v4 |
1 | g.247425559T>A | CA345558687 | NLRP3 | c.2110T>A (p.Cys704Ser) c.1975T>A (p.Cys659Ser) c.2116T>A (p.Cys706Ser) n.2291T>A | |
1 | g.247425559T>C | CA345558688 | NLRP3 | c.2110T>C (p.Cys704Arg) c.1975T>C (p.Cys659Arg) c.2116T>C (p.Cys706Arg) n.2291T>C | |
1 | g.247425559T>G | CA345558689 | NLRP3 | c.2110T>G (p.Cys704Gly) c.1975T>G (p.Cys659Gly) c.2116T>G (p.Cys706Gly) n.2291T>G | |
1 | g.247425560G>A | CA345558690 | NLRP3 | c.2111G>A (p.Cys704Tyr) c.1976G>A (p.Cys659Tyr) c.2117G>A (p.Cys706Tyr) n.2292G>A | |
1 | g.247425560G>C | CA345558691 | NLRP3 | c.2111G>C (p.Cys704Ser) c.1976G>C (p.Cys659Ser) c.2117G>C (p.Cys706Ser) n.2292G>C | gnomAD v4 |
1 | g.247425560G>T | CA345558692 | NLRP3 | c.2111G>T (p.Cys704Phe) c.1976G>T (p.Cys659Phe) c.2117G>T (p.Cys706Phe) n.2292G>T | |
1 | g.247425561T>A | CA345558693 | NLRP3 | c.2112T>A (p.Cys704Ter) c.1977T>A (p.Cys659Ter) c.2118T>A (p.Cys706Ter) n.2293T>A | |
1 | g.247425561T>C | CA424416552 | NLRP3 | c.2112T>C (p.Cys704=) c.1977T>C (p.Cys659=) c.2118T>C (p.Cys706=) n.2293T>C | ClinVar dbSNP |
1 | g.247425561T>G | CA345558694 | NLRP3 | c.2112T>G (p.Cys704Trp) c.1977T>G (p.Cys659Trp) c.2118T>G (p.Cys706Trp) n.2293T>G | |
1 | g.247425562G>A | CA1495113 | NLRP3 | c.2113G>A (p.Val705Ile) c.1978G>A (p.Val660Ile) c.2119G>A (p.Val707Ile) n.2294G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425562G>C | CA345558696 | NLRP3 | c.2113G>C (p.Val705Leu) c.1978G>C (p.Val660Leu) c.2119G>C (p.Val707Leu) n.2294G>C | |
1 | g.247425562G= | CA1144035526 | NLRP3 | c.2113G= (p.Val705=) c.1978G= (p.Val660=) c.2119G= (p.Val707=) n.2294G= | |
1 | g.247425562G>T | CA345558695 | NLRP3 | c.2113G>T (p.Val705Phe) c.1978G>T (p.Val660Phe) c.2119G>T (p.Val707Phe) n.2294G>T | gnomAD v4 |
1 | g.247425563T>A | CA345558697 | NLRP3 | c.2114T>A (p.Val705Asp) c.1979T>A (p.Val660Asp) c.2120T>A (p.Val707Asp) n.2295T>A | |
1 | g.247425563T>C | CA345558698 | NLRP3 | c.2114T>C (p.Val705Ala) c.1979T>C (p.Val660Ala) c.2120T>C (p.Val707Ala) n.2295T>C | |
1 | g.247425563T>G | CA345558699 | NLRP3 | c.2114T>G (p.Val705Gly) c.1979T>G (p.Val660Gly) c.2120T>G (p.Val707Gly) n.2295T>G | |
1 | g.247425564C>A | CA424416553 | NLRP3 | c.2115C>A (p.Val705=) c.1980C>A (p.Val660=) c.2121C>A (p.Val707=) n.2296C>A | COSMIC |
1 | g.247425564C= | CA1143441018 | NLRP3 | c.2115C= (p.Val705=) c.1980C= (p.Val660=) c.2121C= (p.Val707=) n.2296C= | |
1 | g.247425564C>G | CA424416554 | NLRP3 | c.2115C>G (p.Val705=) c.1980C>G (p.Val660=) c.2121C>G (p.Val707=) n.2296C>G | |
1 | g.247425564C>T | CA40692547 | NLRP3 | c.2115C>T (p.Val705=) c.1980C>T (p.Val660=) c.2121C>T (p.Val707=) n.2296C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425565C>A | CA345558700 | NLRP3 | c.2116C>A (p.Leu706Ile) c.1981C>A (p.Leu661Ile) c.2122C>A (p.Leu708Ile) n.2297C>A | |
1 | g.247425565C>G | CA345558701 | NLRP3 | c.2116C>G (p.Leu706Val) c.1981C>G (p.Leu661Val) c.2122C>G (p.Leu708Val) n.2297C>G | |
1 | g.247425565C>T | CA345558702 | NLRP3 | c.2116C>T (p.Leu706Phe) c.1981C>T (p.Leu661Phe) c.2122C>T (p.Leu708Phe) n.2297C>T | gnomAD v4 |
1 | g.247425566T>A | CA345558703 | NLRP3 | c.2117T>A (p.Leu706His) c.1982T>A (p.Leu661His) c.2123T>A (p.Leu708His) n.2298T>A | |
1 | g.247425566T>C | CA345558704 | NLRP3 | c.2117T>C (p.Leu706Pro) c.1982T>C (p.Leu661Pro) c.2123T>C (p.Leu708Pro) n.2298T>C | |
1 | g.247425566T>G | CA345558705 | NLRP3 | c.2117T>G (p.Leu706Arg) c.1982T>G (p.Leu661Arg) c.2123T>G (p.Leu708Arg) n.2298T>G | |
1 | g.247425567C>A | CA424416555 | NLRP3 | c.2118C>A (p.Leu706=) c.1983C>A (p.Leu661=) c.2124C>A (p.Leu708=) n.2299C>A | |
1 | g.247425567C= | CA1142306034 | NLRP3 | c.2118C= (p.Leu706=) c.1983C= (p.Leu661=) c.2124C= (p.Leu708=) n.2299C= | |
1 | g.247425567C>G | CA424416556 | NLRP3 | c.2118C>G (p.Leu706=) c.1983C>G (p.Leu661=) c.2124C>G (p.Leu708=) n.2299C>G | |
1 | g.247425567C>T | CA292573 | NLRP3 | c.2118C>T (p.Leu706=) c.1983C>T (p.Leu661=) c.2124C>T (p.Leu708=) n.2299C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425568C>A | CA345558707 | NLRP3 | c.2119C>A (p.Pro707Thr) c.1984C>A (p.Pro662Thr) c.2125C>A (p.Pro709Thr) n.2300C>A | |
1 | g.247425568C= | CA1232099448 | NLRP3 | c.2119C= (p.Pro707=) c.1984C= (p.Pro662=) c.2125C= (p.Pro709=) n.2300C= | |
1 | g.247425568C>G | CA40692563 | NLRP3 | c.2119C>G (p.Pro707Ala) c.1984C>G (p.Pro662Ala) c.2125C>G (p.Pro709Ala) n.2300C>G | dbSNP |
1 | g.247425568C>T | CA345558706 | NLRP3 | c.2119C>T (p.Pro707Ser) c.1984C>T (p.Pro662Ser) c.2125C>T (p.Pro709Ser) n.2300C>T | COSMIC |
1 | g.247425569C>A | CA1495114 | NLRP3 | c.2120C>A (p.Pro707Gln) c.1985C>A (p.Pro662Gln) c.2126C>A (p.Pro709Gln) n.2301C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425569C= | CA1143413648 | NLRP3 | c.2120C= (p.Pro707=) c.1985C= (p.Pro662=) c.2126C= (p.Pro709=) n.2301C= | |
1 | g.247425569C>G | CA345558708 | NLRP3 | c.2120C>G (p.Pro707Arg) c.1985C>G (p.Pro662Arg) c.2126C>G (p.Pro709Arg) n.2301C>G | dbSNP gnomAD v4 |
1 | g.247425569C>T | CA345558709 | NLRP3 | c.2120C>T (p.Pro707Leu) c.1985C>T (p.Pro662Leu) c.2126C>T (p.Pro709Leu) n.2301C>T | dbSNP |
1 | g.247425570A>C | CA424416557 | NLRP3 | c.2121A>C (p.Pro707=) c.1986A>C (p.Pro662=) c.2127A>C (p.Pro709=) n.2302A>C | |
1 | g.247425570A>G | CA424416558 | NLRP3 | c.2121A>G (p.Pro707=) c.1986A>G (p.Pro662=) c.2127A>G (p.Pro709=) n.2302A>G | ClinVar dbSNP |
1 | g.247425570A>T | CA424416559 | NLRP3 | c.2121A>T (p.Pro707=) c.1986A>T (p.Pro662=) c.2127A>T (p.Pro709=) n.2302A>T | |
1 | g.247425571A= | CA1232099478 | NLRP3 | c.2122A= (p.Ser708=) c.1987A= (p.Ser663=) c.2128A= (p.Ser710=) n.2303A= | |
1 | g.247425571A>C | CA345558710 | NLRP3 | c.2122A>C (p.Ser708Arg) c.1987A>C (p.Ser663Arg) c.2128A>C (p.Ser710Arg) n.2303A>C | |
1 | g.247425571A>G | CA40692579 | NLRP3 | c.2122A>G (p.Ser708Gly) c.1987A>G (p.Ser663Gly) c.2128A>G (p.Ser710Gly) n.2303A>G | dbSNP gnomAD v4 |
1 | g.247425571A>T | CA345558711 | NLRP3 | c.2122A>T (p.Ser708Cys) c.1987A>T (p.Ser663Cys) c.2128A>T (p.Ser710Cys) n.2303A>T | |
1 | g.247425572G>A | CA345558712 | NLRP3 | c.2123G>A (p.Ser708Asn) c.1988G>A (p.Ser663Asn) c.2129G>A (p.Ser710Asn) n.2304G>A | |
1 | g.247425572G>C | CA345558713 | NLRP3 | c.2123G>C (p.Ser708Thr) c.1988G>C (p.Ser663Thr) c.2129G>C (p.Ser710Thr) n.2304G>C | |
1 | g.247425572G>T | CA345558714 | NLRP3 | c.2123G>T (p.Ser708Ile) c.1988G>T (p.Ser663Ile) c.2129G>T (p.Ser710Ile) n.2304G>T | |
1 | g.247425573C>A | CA345558715 | NLRP3 | c.2124C>A (p.Ser708Arg) c.1989C>A (p.Ser663Arg) c.2130C>A (p.Ser710Arg) n.2305C>A | |
1 | g.247425573C= | CA1143373739 | NLRP3 | c.2124C= (p.Ser708=) c.1989C= (p.Ser663=) c.2130C= (p.Ser710=) n.2305C= | |
1 | g.247425573C>G | CA345558716 | NLRP3 | c.2124C>G (p.Ser708Arg) c.1989C>G (p.Ser663Arg) c.2130C>G (p.Ser710Arg) n.2305C>G | |
1 | g.247425573C>T | CA1495115 | NLRP3 | c.2124C>T (p.Ser708=) c.1989C>T (p.Ser663=) c.2130C>T (p.Ser710=) n.2305C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425574T>A | CA345558718 | NLRP3 | c.2125T>A (p.Ser709Thr) c.1990T>A (p.Ser664Thr) c.2131T>A (p.Ser711Thr) n.2306T>A | |
1 | g.247425574T>C | CA1495116 | NLRP3 | c.2125T>C (p.Ser709Pro) c.1990T>C (p.Ser664Pro) c.2131T>C (p.Ser711Pro) n.2306T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425574T>G | CA345558717 | NLRP3 | c.2125T>G (p.Ser709Ala) c.1990T>G (p.Ser664Ala) c.2131T>G (p.Ser711Ala) n.2306T>G | |
1 | g.247425574T= | CA1232099487 | NLRP3 | c.2125T= (p.Ser709=) c.1990T= (p.Ser664=) c.2131T= (p.Ser711=) n.2306T= | |
1 | g.247425575C>A | CA345558719 | NLRP3 | c.2126C>A (p.Ser709Tyr) c.1991C>A (p.Ser664Tyr) c.2132C>A (p.Ser711Tyr) n.2307C>A | |
1 | g.247425575C>G | CA345558720 | NLRP3 | c.2126C>G (p.Ser709Cys) c.1991C>G (p.Ser664Cys) c.2132C>G (p.Ser711Cys) n.2307C>G | |
1 | g.247425575C>T | CA345558721 | NLRP3 | c.2126C>T (p.Ser709Phe) c.1991C>T (p.Ser664Phe) c.2132C>T (p.Ser711Phe) n.2307C>T | gnomAD v4 |
1 | g.247425576C>A | CA424416561 | NLRP3 | c.2127C>A (p.Ser709=) c.1992C>A (p.Ser664=) c.2133C>A (p.Ser711=) n.2308C>A | |
1 | g.247425576C= | CA1232099490 | NLRP3 | c.2127C= (p.Ser709=) c.1992C= (p.Ser664=) c.2133C= (p.Ser711=) n.2308C= | |
1 | g.247425576C>G | CA424416560 | NLRP3 | c.2127C>G (p.Ser709=) c.1992C>G (p.Ser664=) c.2133C>G (p.Ser711=) n.2308C>G | |
1 | g.247425576C>T | CA1495117 | NLRP3 | c.2127C>T (p.Ser709=) c.1992C>T (p.Ser664=) c.2133C>T (p.Ser711=) n.2308C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425577T>A | CA345558724 | NLRP3 | c.2128T>A (p.Ser710Thr) c.1993T>A (p.Ser665Thr) c.2134T>A (p.Ser712Thr) n.2309T>A | |
1 | g.247425577T>C | CA345558723 | NLRP3 | c.2128T>C (p.Ser710Pro) c.1993T>C (p.Ser665Pro) c.2134T>C (p.Ser712Pro) n.2309T>C | |
1 | g.247425577T>G | CA345558722 | NLRP3 | c.2128T>G (p.Ser710Ala) c.1993T>G (p.Ser665Ala) c.2134T>G (p.Ser712Ala) n.2309T>G | |
1 | g.247425578C>A | CA345558725 | NLRP3 | c.2129C>A (p.Ser710Tyr) c.1994C>A (p.Ser665Tyr) c.2135C>A (p.Ser712Tyr) n.2310C>A | |
1 | g.247425578C= | CA1142421429 | NLRP3 | c.2129C= (p.Ser710=) c.1994C= (p.Ser665=) c.2135C= (p.Ser712=) n.2310C= | |
1 | g.247425578C>G | CA281306 | NLRP3 | c.2129C>G (p.Ser710Cys) c.1994C>G (p.Ser665Cys) c.2135C>G (p.Ser712Cys) n.2310C>G | ClinVar dbSNP |
1 | g.247425578C>T | CA345558726 | NLRP3 | c.2129C>T (p.Ser710Phe) c.1994C>T (p.Ser665Phe) c.2135C>T (p.Ser712Phe) n.2310C>T | dbSNP gnomAD v4 |
1 | g.247425579T>A | CA424416562 | NLRP3 | c.2130T>A (p.Ser710=) c.1995T>A (p.Ser665=) c.2136T>A (p.Ser712=) n.2311T>A | |
1 | g.247425579T>C | CA424416563 | NLRP3 | c.2130T>C (p.Ser710=) c.1995T>C (p.Ser665=) c.2136T>C (p.Ser712=) n.2311T>C | gnomAD v4 |
1 | g.247425579T>G | CA424416564 | NLRP3 | c.2130T>G (p.Ser710=) c.1995T>G (p.Ser665=) c.2136T>G (p.Ser712=) n.2311T>G | |
1 | g.247425580C>A | CA345558727 | NLRP3 | c.2131C>A (p.His711Asn) c.1996C>A (p.His666Asn) c.2137C>A (p.His713Asn) n.2312C>A | |
1 | g.247425580C>G | CA345558728 | NLRP3 | c.2131C>G (p.His711Asp) c.1996C>G (p.His666Asp) c.2137C>G (p.His713Asp) n.2312C>G | |
1 | g.247425580C>T | CA345558729 | NLRP3 | c.2131C>T (p.His711Tyr) c.1996C>T (p.His666Tyr) c.2137C>T (p.His713Tyr) n.2312C>T | |
1 | g.247425581A= | CA1232099498 | NLRP3 | c.2132A= (p.His711=) c.1997A= (p.His666=) c.2138A= (p.His713=) n.2313A= | |
1 | g.247425581A>C | CA345558731 | NLRP3 | c.2132A>C (p.His711Pro) c.1997A>C (p.His666Pro) c.2138A>C (p.His713Pro) n.2313A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425581A>G | CA345558730 | NLRP3 | c.2132A>G (p.His711Arg) c.1997A>G (p.His666Arg) c.2138A>G (p.His713Arg) n.2313A>G | gnomAD v4 |
1 | g.247425581A>T | CA1495118 | NLRP3 | c.2132A>T (p.His711Leu) c.1997A>T (p.His666Leu) c.2138A>T (p.His713Leu) n.2313A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425582T>A | CA345558732 | NLRP3 | c.2133T>A (p.His711Gln) c.1998T>A (p.His666Gln) c.2139T>A (p.His713Gln) n.2314T>A | ClinVar dbSNP |
1 | g.247425582T>C | CA424416565 | NLRP3 | c.2133T>C (p.His711=) c.1998T>C (p.His666=) c.2139T>C (p.His713=) n.2314T>C | |
1 | g.247425582T>G | CA345558733 | NLRP3 | c.2133T>G (p.His711Gln) c.1998T>G (p.His666Gln) c.2139T>G (p.His713Gln) n.2314T>G |