Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |