Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247425087_247425090del | CA2540737652 | NLRP3 | c.1638_1641del (p.Ser547ValfsTer2) c.1503_1506del (p.Ser502ValfsTer2) c.1644_1647del (p.Ser549ValfsTer2) n.1819_1822del | |
1 | g.247425088A= | CA1141705550 | NLRP3 | c.1639A= (p.Ser547=) c.1504A= (p.Ser502=) c.1645A= (p.Ser549=) n.1820A= | |
1 | g.247425088A>C | CA345557498 | NLRP3 | c.1639A>C (p.Ser547Arg) c.1504A>C (p.Ser502Arg) c.1645A>C (p.Ser549Arg) n.1820A>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425088A>G | CA345557499 | NLRP3 | c.1639A>G (p.Ser547Gly) c.1504A>G (p.Ser502Gly) c.1645A>G (p.Ser549Gly) n.1820A>G | |
1 | g.247425088A>T | CA1495048 | NLRP3 | c.1639A>T (p.Ser547Cys) c.1504A>T (p.Ser502Cys) c.1645A>T (p.Ser549Cys) n.1820A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425089G>A | CA345557502 | NLRP3 | c.1640G>A (p.Ser547Asn) c.1505G>A (p.Ser502Asn) c.1646G>A (p.Ser549Asn) n.1821G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425089G>C | CA345557500 | NLRP3 | c.1640G>C (p.Ser547Thr) c.1505G>C (p.Ser502Thr) c.1646G>C (p.Ser549Thr) n.1821G>C | |
1 | g.247425089G= | CA1232098715 | NLRP3 | c.1640G= (p.Ser547=) c.1505G= (p.Ser502=) c.1646G= (p.Ser549=) n.1821G= | |
1 | g.247425089G>T | CA345557501 | NLRP3 | c.1640G>T (p.Ser547Ile) c.1505G>T (p.Ser502Ile) c.1646G>T (p.Ser549Ile) n.1821G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425090T>A | CA345557503 | NLRP3 | c.1641T>A (p.Ser547Arg) c.1506T>A (p.Ser502Arg) c.1647T>A (p.Ser549Arg) n.1822T>A | |
1 | g.247425090T>C | CA424581047 | NLRP3 | c.1641T>C (p.Ser547=) c.1506T>C (p.Ser502=) c.1647T>C (p.Ser549=) n.1822T>C | |
1 | g.247425090T>G | CA345557504 | NLRP3 | c.1641T>G (p.Ser547Arg) c.1506T>G (p.Ser502Arg) c.1647T>G (p.Ser549Arg) n.1822T>G | |
1 | g.247425091C>A | CA345557505 | NLRP3 | c.1642C>A (p.Arg548Ser) c.1507C>A (p.Arg503Ser) c.1648C>A (p.Arg550Ser) n.1823C>A | gnomAD v4 |
1 | g.247425091C= | CA1143498514 | NLRP3 | c.1642C= (p.Arg548=) c.1507C= (p.Arg503=) c.1648C= (p.Arg550=) n.1823C= | |
1 | g.247425091C>G | CA345557506 | NLRP3 | c.1642C>G (p.Arg548Gly) c.1507C>G (p.Arg503Gly) c.1648C>G (p.Arg550Gly) n.1823C>G | |
1 | g.247425091C>T | CA1495049 | NLRP3 | c.1642C>T (p.Arg548Cys) c.1507C>T (p.Arg503Cys) c.1648C>T (p.Arg550Cys) n.1823C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425092G>A | CA1495050 | NLRP3 | c.1643G>A (p.Arg548His) c.1508G>A (p.Arg503His) c.1649G>A (p.Arg550His) n.1824G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425092G>C | CA345557507 | NLRP3 | c.1643G>C (p.Arg548Pro) c.1508G>C (p.Arg503Pro) c.1649G>C (p.Arg550Pro) n.1824G>C | |
1 | g.247425092G= | CA1143405960 | NLRP3 | c.1643G= (p.Arg548=) c.1508G= (p.Arg503=) c.1649G= (p.Arg550=) n.1824G= | |
1 | g.247425092G>T | CA345557508 | NLRP3 | c.1643G>T (p.Arg548Leu) c.1508G>T (p.Arg503Leu) c.1649G>T (p.Arg550Leu) n.1824G>T | |
1 | g.247425092_247425093del | CA2539020622 | NLRP3 | c.1643_1644del (p.Arg548LeufsTer?) c.1508_1509del (p.Arg503LeufsTer?) c.1649_1650del (p.Arg550LeufsTer?) n.1824_1825del | |
1 | g.247425093T>A | CA424581057 | NLRP3 | c.1644T>A (p.Arg548=) c.1509T>A (p.Arg503=) c.1650T>A (p.Arg550=) n.1825T>A | |
1 | g.247425093T>C | CA424581058 | NLRP3 | c.1644T>C (p.Arg548=) c.1509T>C (p.Arg503=) c.1650T>C (p.Arg550=) n.1825T>C | |
1 | g.247425093T>G | CA424581059 | NLRP3 | c.1644T>G (p.Arg548=) c.1509T>G (p.Arg503=) c.1650T>G (p.Arg550=) n.1825T>G | |
1 | g.247425094T>A | CA345557509 | NLRP3 | c.1645T>A (p.Leu549Met) c.1510T>A (p.Leu504Met) c.1651T>A (p.Leu551Met) n.1826T>A | |
1 | g.247425094T>C | CA1495051 | NLRP3 | c.1645T>C (p.Leu549=) c.1510T>C (p.Leu504=) c.1651T>C (p.Leu551=) n.1826T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425094T>G | CA345557510 | NLRP3 | c.1645T>G (p.Leu549Val) c.1510T>G (p.Leu504Val) c.1651T>G (p.Leu551Val) n.1826T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425094T= | CA1141993023 | NLRP3 | c.1645T= (p.Leu549=) c.1510T= (p.Leu504=) c.1651T= (p.Leu551=) n.1826T= | |
1 | g.247425095T>A | CA345557513 | NLRP3 | c.1646T>A (p.Leu549Ter) c.1511T>A (p.Leu504Ter) c.1652T>A (p.Leu551Ter) n.1827T>A | |
1 | g.247425095T>C | CA345557512 | NLRP3 | c.1646T>C (p.Leu549Ser) c.1511T>C (p.Leu504Ser) c.1652T>C (p.Leu551Ser) n.1827T>C | |
1 | g.247425095T>G | CA345557511 | NLRP3 | c.1646T>G (p.Leu549Trp) c.1511T>G (p.Leu504Trp) c.1652T>G (p.Leu551Trp) n.1827T>G | |
1 | g.247425096G>A | CA424581076 | NLRP3 | c.1647G>A (p.Leu549=) c.1512G>A (p.Leu504=) c.1653G>A (p.Leu551=) n.1828G>A | |
1 | g.247425096G>C | CA40691996 | NLRP3 | c.1647G>C (p.Leu549Phe) c.1512G>C (p.Leu504Phe) c.1653G>C (p.Leu551Phe) n.1828G>C | dbSNP |
1 | g.247425096G= | CA1232098737 | NLRP3 | c.1647G= (p.Leu549=) c.1512G= (p.Leu504=) c.1653G= (p.Leu551=) n.1828G= | |
1 | g.247425096G>T | CA345557514 | NLRP3 | c.1647G>T (p.Leu549Phe) c.1512G>T (p.Leu504Phe) c.1653G>T (p.Leu551Phe) n.1828G>T | |
1 | g.247425096_247425097insTTCA | CA2513591021 | NLRP3 | c.1647_1648insTTCA (p.Lys550PhefsTer?) c.1512_1513insTTCA (p.Lys505PhefsTer?) c.1653_1654insTTCA (p.Lys552PhefsTer?) n.1828_1829insTTCA | |
1 | g.247425097A= | CA1232098740 | NLRP3 | c.1648A= (p.Lys550=) c.1513A= (p.Lys505=) c.1654A= (p.Lys552=) n.1829A= | |
1 | g.247425097A>C | CA345557515 | NLRP3 | c.1648A>C (p.Lys550Gln) c.1513A>C (p.Lys505Gln) c.1654A>C (p.Lys552Gln) n.1829A>C | |
1 | g.247425097A>G | CA1495052 | NLRP3 | c.1648A>G (p.Lys550Glu) c.1513A>G (p.Lys505Glu) c.1654A>G (p.Lys552Glu) n.1829A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425097A>T | CA345557516 | NLRP3 | c.1648A>T (p.Lys550Ter) c.1513A>T (p.Lys505Ter) c.1654A>T (p.Lys552Ter) n.1829A>T | gnomAD v4 |
1 | g.247425098A= | CA1232098742 | NLRP3 | c.1649A= (p.Lys550=) c.1514A= (p.Lys505=) c.1655A= (p.Lys552=) n.1830A= | |
1 | g.247425098A>C | CA345557517 | NLRP3 | c.1649A>C (p.Lys550Thr) c.1514A>C (p.Lys505Thr) c.1655A>C (p.Lys552Thr) n.1830A>C | |
1 | g.247425098A>G | CA345557518 | NLRP3 | c.1649A>G (p.Lys550Arg) c.1514A>G (p.Lys505Arg) c.1655A>G (p.Lys552Arg) n.1830A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425098A>T | CA345557519 | NLRP3 | c.1649A>T (p.Lys550Met) c.1514A>T (p.Lys505Met) c.1655A>T (p.Lys552Met) n.1830A>T | |
1 | g.247425099G>A | CA1495053 | NLRP3 | c.1650G>A (p.Lys550=) c.1515G>A (p.Lys505=) c.1656G>A (p.Lys552=) n.1831G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425099G>C | CA345557520 | NLRP3 | c.1650G>C (p.Lys550Asn) c.1515G>C (p.Lys505Asn) c.1656G>C (p.Lys552Asn) n.1831G>C | |
1 | g.247425099G= | CA1149040370 | NLRP3 | c.1650G= (p.Lys550=) c.1515G= (p.Lys505=) c.1656G= (p.Lys552=) n.1831G= | |
1 | g.247425099G>T | CA345557521 | NLRP3 | c.1650G>T (p.Lys550Asn) c.1515G>T (p.Lys505Asn) c.1656G>T (p.Lys552Asn) n.1831G>T | gnomAD v4 |
1 | g.247425100C>A | CA345557522 | NLRP3 | c.1651C>A (p.Leu551Ile) c.1516C>A (p.Leu506Ile) c.1657C>A (p.Leu553Ile) n.1832C>A | |
1 | g.247425100C>G | CA345557523 | NLRP3 | c.1651C>G (p.Leu551Val) c.1516C>G (p.Leu506Val) c.1657C>G (p.Leu553Val) n.1832C>G | |
1 | g.247425100C>T | CA345557524 | NLRP3 | c.1651C>T (p.Leu551Phe) c.1516C>T (p.Leu506Phe) c.1657C>T (p.Leu553Phe) n.1832C>T | |
1 | g.247425101T>A | CA345557526 | NLRP3 | c.1652T>A (p.Leu551His) c.1517T>A (p.Leu506His) c.1658T>A (p.Leu553His) n.1833T>A | |
1 | g.247425101T>C | CA345557527 | NLRP3 | c.1652T>C (p.Leu551Pro) c.1517T>C (p.Leu506Pro) c.1658T>C (p.Leu553Pro) n.1833T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425101T>G | CA345557525 | NLRP3 | c.1652T>G (p.Leu551Arg) c.1517T>G (p.Leu506Arg) c.1658T>G (p.Leu553Arg) n.1833T>G | |
1 | g.247425101T= | CA1232098744 | NLRP3 | c.1652T= (p.Leu551=) c.1517T= (p.Leu506=) c.1658T= (p.Leu553=) n.1833T= | |
1 | g.247425102T>A | CA424581110 | NLRP3 | c.1653T>A (p.Leu551=) c.1518T>A (p.Leu506=) c.1659T>A (p.Leu553=) n.1834T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425102T>C | CA1495054 | NLRP3 | c.1653T>C (p.Leu551=) c.1518T>C (p.Leu506=) c.1659T>C (p.Leu553=) n.1834T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425102T>G | CA424581113 | NLRP3 | c.1653T>G (p.Leu551=) c.1518T>G (p.Leu506=) c.1659T>G (p.Leu553=) n.1834T>G | |
1 | g.247425102T= | CA1143511983 | NLRP3 | c.1653T= (p.Leu551=) c.1518T= (p.Leu506=) c.1659T= (p.Leu553=) n.1834T= | |
1 | g.247425103C>A | CA345557528 | NLRP3 | c.1654C>A (p.Pro552Thr) c.1519C>A (p.Pro507Thr) c.1660C>A (p.Pro554Thr) n.1835C>A | gnomAD v4 |
1 | g.247425103C= | CA1232098749 | NLRP3 | c.1654C= (p.Pro552=) c.1519C= (p.Pro507=) c.1660C= (p.Pro554=) n.1835C= | |
1 | g.247425103C>G | CA1495055 | NLRP3 | c.1654C>G (p.Pro552Ala) c.1519C>G (p.Pro507Ala) c.1660C>G (p.Pro554Ala) n.1835C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425103C>T | CA345557529 | NLRP3 | c.1654C>T (p.Pro552Ser) c.1519C>T (p.Pro507Ser) c.1660C>T (p.Pro554Ser) n.1835C>T | gnomAD v4 |
1 | g.247425104C>A | CA345557530 | NLRP3 | c.1655C>A (p.Pro552His) c.1520C>A (p.Pro507His) c.1661C>A (p.Pro554His) n.1836C>A | |
1 | g.247425104C>G | CA345557531 | NLRP3 | c.1655C>G (p.Pro552Arg) c.1520C>G (p.Pro507Arg) c.1661C>G (p.Pro554Arg) n.1836C>G | |
1 | g.247425104C>T | CA345557532 | NLRP3 | c.1655C>T (p.Pro552Leu) c.1520C>T (p.Pro507Leu) c.1661C>T (p.Pro554Leu) n.1836C>T | COSMIC |
1 | g.247425105C>A | CA424581127 | NLRP3 | c.1656C>A (p.Pro552=) c.1521C>A (p.Pro507=) c.1662C>A (p.Pro554=) n.1837C>A | |
1 | g.247425105C>G | CA424581131 | NLRP3 | c.1656C>G (p.Pro552=) c.1521C>G (p.Pro507=) c.1662C>G (p.Pro554=) n.1837C>G | |
1 | g.247425105C>T | CA424581129 | NLRP3 | c.1656C>T (p.Pro552=) c.1521C>T (p.Pro507=) c.1662C>T (p.Pro554=) n.1837C>T | |
1 | g.247425106A= | CA1232098751 | NLRP3 | c.1657A= (p.Ser553=) c.1522A= (p.Ser508=) c.1663A= (p.Ser555=) n.1838A= | |
1 | g.247425106A>C | CA345557533 | NLRP3 | c.1657A>C (p.Ser553Arg) c.1522A>C (p.Ser508Arg) c.1663A>C (p.Ser555Arg) n.1838A>C | |
1 | g.247425106A>G | CA1495056 | NLRP3 | c.1657A>G (p.Ser553Gly) c.1522A>G (p.Ser508Gly) c.1663A>G (p.Ser555Gly) n.1838A>G | dbSNP ExAC |
1 | g.247425106A>T | CA345557534 | NLRP3 | c.1657A>T (p.Ser553Cys) c.1522A>T (p.Ser508Cys) c.1663A>T (p.Ser555Cys) n.1838A>T | |
1 | g.247425107G>A | CA345557535 | NLRP3 | c.1658G>A (p.Ser553Asn) c.1523G>A (p.Ser508Asn) c.1664G>A (p.Ser555Asn) n.1839G>A | |
1 | g.247425107G>C | CA345557536 | NLRP3 | c.1658G>C (p.Ser553Thr) c.1523G>C (p.Ser508Thr) c.1664G>C (p.Ser555Thr) n.1839G>C | |
1 | g.247425107G>T | CA345557537 | NLRP3 | c.1658G>T (p.Ser553Ile) c.1523G>T (p.Ser508Ile) c.1664G>T (p.Ser555Ile) n.1839G>T | |
1 | g.247425108C>A | CA40692034 | NLRP3 | c.1659C>A (p.Ser553Arg) c.1524C>A (p.Ser508Arg) c.1665C>A (p.Ser555Arg) n.1840C>A | dbSNP gnomAD v4 COSMIC |
1 | g.247425108C= | CA1143404075 | NLRP3 | c.1659C= (p.Ser553=) c.1524C= (p.Ser508=) c.1665C= (p.Ser555=) n.1840C= | |
1 | g.247425108C>G | CA345557538 | NLRP3 | c.1659C>G (p.Ser553Arg) c.1524C>G (p.Ser508Arg) c.1665C>G (p.Ser555Arg) n.1840C>G | |
1 | g.247425108C>T | CA1495057 | NLRP3 | c.1659C>T (p.Ser553=) c.1524C>T (p.Ser508=) c.1665C>T (p.Ser555=) n.1840C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425109C>A | CA424581142 | NLRP3 | c.1660C>A (p.Arg554=) c.1525C>A (p.Arg509=) c.1666C>A (p.Arg556=) n.1841C>A | |
1 | g.247425109C= | CA1142421416 | NLRP3 | c.1660C= (p.Arg554=) c.1525C= (p.Arg509=) c.1666C= (p.Arg556=) n.1841C= | |
1 | g.247425109C>G | CA345557539 | NLRP3 | c.1660C>G (p.Arg554Gly) c.1525C>G (p.Arg509Gly) c.1666C>G (p.Arg556Gly) n.1841C>G | |
1 | g.247425109C>T | CA281242 | NLRP3 | c.1660C>T (p.Arg554Ter) c.1525C>T (p.Arg509Ter) c.1666C>T (p.Arg556Ter) n.1841C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425110G>A | CA345557540 | NLRP3 | c.1661G>A (p.Arg554Gln) c.1526G>A (p.Arg509Gln) c.1667G>A (p.Arg556Gln) n.1842G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425110G>C | CA345557541 | NLRP3 | c.1661G>C (p.Arg554Pro) c.1526G>C (p.Arg509Pro) c.1667G>C (p.Arg556Pro) n.1842G>C | gnomAD v4 |
1 | g.247425110G= | CA1232098761 | NLRP3 | c.1661G= (p.Arg554=) c.1526G= (p.Arg509=) c.1667G= (p.Arg556=) n.1842G= | |
1 | g.247425110G>T | CA345557542 | NLRP3 | c.1661G>T (p.Arg554Leu) c.1526G>T (p.Arg509Leu) c.1667G>T (p.Arg556Leu) n.1842G>T | |
1 | g.247425111A>C | CA424581148 | NLRP3 | c.1662A>C (p.Arg554=) c.1527A>C (p.Arg509=) c.1668A>C (p.Arg556=) n.1843A>C | |
1 | g.247425111A>G | CA424581150 | NLRP3 | c.1662A>G (p.Arg554=) c.1527A>G (p.Arg509=) c.1668A>G (p.Arg556=) n.1843A>G | |
1 | g.247425111A>T | CA424581152 | NLRP3 | c.1662A>T (p.Arg554=) c.1527A>T (p.Arg509=) c.1668A>T (p.Arg556=) n.1843A>T | |
1 | g.247425112G>A | CA345557543 | NLRP3 | c.1663G>A (p.Asp555Asn) c.1528G>A (p.Asp510Asn) c.1669G>A (p.Asp557Asn) n.1844G>A | |
1 | g.247425112G>C | CA345557544 | NLRP3 | c.1663G>C (p.Asp555His) c.1528G>C (p.Asp510His) c.1669G>C (p.Asp557His) n.1844G>C | |
1 | g.247425112G>T | CA345557545 | NLRP3 | c.1663G>T (p.Asp555Tyr) c.1528G>T (p.Asp510Tyr) c.1669G>T (p.Asp557Tyr) n.1844G>T | COSMIC |
1 | g.247425113A>C | CA345557546 | NLRP3 | c.1664A>C (p.Asp555Ala) c.1529A>C (p.Asp510Ala) c.1670A>C (p.Asp557Ala) n.1845A>C | |
1 | g.247425113A>G | CA345557547 | NLRP3 | c.1664A>G (p.Asp555Gly) c.1529A>G (p.Asp510Gly) c.1670A>G (p.Asp557Gly) n.1845A>G | |
1 | g.247425113A>T | CA345557548 | NLRP3 | c.1664A>T (p.Asp555Val) c.1529A>T (p.Asp510Val) c.1670A>T (p.Asp557Val) n.1845A>T | |
1 | g.247425114C>A | CA345557550 | NLRP3 | c.1665C>A (p.Asp555Glu) c.1530C>A (p.Asp510Glu) c.1671C>A (p.Asp557Glu) n.1846C>A | |
1 | g.247425114C= | CA1142406143 | NLRP3 | c.1665C= (p.Asp555=) c.1530C= (p.Asp510=) c.1671C= (p.Asp557=) n.1846C= | |
1 | g.247425114C>G | CA345557549 | NLRP3 | c.1665C>G (p.Asp555Glu) c.1530C>G (p.Asp510Glu) c.1671C>G (p.Asp557Glu) n.1846C>G | |
1 | g.247425114C>T | CA1495058 | NLRP3 | c.1665C>T (p.Asp555=) c.1530C>T (p.Asp510=) c.1671C>T (p.Asp557=) n.1846C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425115G>A | CA40692061 | NLRP3 | c.1666G>A (p.Val556Met) c.1531G>A (p.Val511Met) c.1672G>A (p.Val558Met) n.1847G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425115G>C | CA345557552 | NLRP3 | c.1666G>C (p.Val556Leu) c.1531G>C (p.Val511Leu) c.1672G>C (p.Val558Leu) n.1847G>C | |
1 | g.247425115G= | CA1143365167 | NLRP3 | c.1666G= (p.Val556=) c.1531G= (p.Val511=) c.1672G= (p.Val558=) n.1847G= | |
1 | g.247425115G>T | CA345557551 | NLRP3 | c.1666G>T (p.Val556Leu) c.1531G>T (p.Val511Leu) c.1672G>T (p.Val558Leu) n.1847G>T | |
1 | g.247425116T>A | CA345557553 | NLRP3 | c.1667T>A (p.Val556Glu) c.1532T>A (p.Val511Glu) c.1673T>A (p.Val558Glu) n.1848T>A | COSMIC |
1 | g.247425116T>C | CA345557554 | NLRP3 | c.1667T>C (p.Val556Ala) c.1532T>C (p.Val511Ala) c.1673T>C (p.Val558Ala) n.1848T>C | |
1 | g.247425116T>G | CA345557555 | NLRP3 | c.1667T>G (p.Val556Gly) c.1532T>G (p.Val511Gly) c.1673T>G (p.Val558Gly) n.1848T>G | |
1 | g.247425117G>A | CA424581180 | NLRP3 | c.1668G>A (p.Val556=) c.1533G>A (p.Val511=) c.1674G>A (p.Val558=) n.1849G>A | |
1 | g.247425117G>C | CA424581182 | NLRP3 | c.1668G>C (p.Val556=) c.1533G>C (p.Val511=) c.1674G>C (p.Val558=) n.1849G>C | |
1 | g.247425117G>T | CA424581185 | NLRP3 | c.1668G>T (p.Val556=) c.1533G>T (p.Val511=) c.1674G>T (p.Val558=) n.1849G>T | |
1 | g.247425118A= | CA1142421417 | NLRP3 | c.1669A= (p.Thr557=) c.1534A= (p.Thr512=) c.1675A= (p.Thr559=) n.1850A= | |
1 | g.247425118A>C | CA345557556 | NLRP3 | c.1669A>C (p.Thr557Pro) c.1534A>C (p.Thr512Pro) c.1675A>C (p.Thr559Pro) n.1850A>C | |
1 | g.247425118A>G | CA281246 | NLRP3 | c.1669A>G (p.Thr557Ala) c.1534A>G (p.Thr512Ala) c.1675A>G (p.Thr559Ala) n.1850A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425118A>T | CA345557557 | NLRP3 | c.1669A>T (p.Thr557Ser) c.1534A>T (p.Thr512Ser) c.1675A>T (p.Thr559Ser) n.1850A>T | |
1 | g.247425119C>A | CA345557558 | NLRP3 | c.1670C>A (p.Thr557Lys) c.1535C>A (p.Thr512Lys) c.1676C>A (p.Thr559Lys) n.1851C>A | |
1 | g.247425119C= | CA1232098780 | NLRP3 | c.1670C= (p.Thr557=) c.1535C= (p.Thr512=) c.1676C= (p.Thr559=) n.1851C= | |
1 | g.247425119C>G | CA345557559 | NLRP3 | c.1670C>G (p.Thr557Arg) c.1535C>G (p.Thr512Arg) c.1676C>G (p.Thr559Arg) n.1851C>G | |
1 | g.247425119C>T | CA1495059 | NLRP3 | c.1670C>T (p.Thr557Ile) c.1535C>T (p.Thr512Ile) c.1676C>T (p.Thr559Ile) n.1851C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425120A= | CA1141291233 | NLRP3 | c.1671A= (p.Thr557=) c.1536A= (p.Thr512=) c.1677A= (p.Thr559=) n.1852A= | |
1 | g.247425120A>C | CA424581194 | NLRP3 | c.1671A>C (p.Thr557=) c.1536A>C (p.Thr512=) c.1677A>C (p.Thr559=) n.1852A>C | |
1 | g.247425120A>G | CA40692071 | NLRP3 | c.1671A>G (p.Thr557=) c.1536A>G (p.Thr512=) c.1677A>G (p.Thr559=) n.1852A>G | dbSNP |
1 | g.247425120A>T | CA424581197 | NLRP3 | c.1671A>T (p.Thr557=) c.1536A>T (p.Thr512=) c.1677A>T (p.Thr559=) n.1852A>T | |
1 | g.247425121G>A | CA1495060 | NLRP3 | c.1672G>A (p.Val558Ile) c.1537G>A (p.Val513Ile) c.1678G>A (p.Val560Ile) n.1853G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425121G>C | CA345557560 | NLRP3 | c.1672G>C (p.Val558Leu) c.1537G>C (p.Val513Leu) c.1678G>C (p.Val560Leu) n.1853G>C | |
1 | g.247425121G= | CA1232098788 | NLRP3 | c.1672G= (p.Val558=) c.1537G= (p.Val513=) c.1678G= (p.Val560=) n.1853G= | |
1 | g.247425121G>T | CA345557561 | NLRP3 | c.1672G>T (p.Val558Phe) c.1537G>T (p.Val513Phe) c.1678G>T (p.Val560Phe) n.1853G>T | |
1 | g.247425122T>A | CA1495061 | NLRP3 | c.1673T>A (p.Val558Asp) c.1538T>A (p.Val513Asp) c.1679T>A (p.Val560Asp) n.1854T>A | dbSNP ExAC gnomAD v2 |
1 | g.247425122T>C | CA345557562 | NLRP3 | c.1673T>C (p.Val558Ala) c.1538T>C (p.Val513Ala) c.1679T>C (p.Val560Ala) n.1854T>C | dbSNP |
1 | g.247425122T>G | CA345557563 | NLRP3 | c.1673T>G (p.Val558Gly) c.1538T>G (p.Val513Gly) c.1679T>G (p.Val560Gly) n.1854T>G | |
1 | g.247425122T= | CA1232098791 | NLRP3 | c.1673T= (p.Val558=) c.1538T= (p.Val513=) c.1679T= (p.Val560=) n.1854T= | |
1 | g.247425123C>A | CA424581207 | NLRP3 | c.1674C>A (p.Val558=) c.1539C>A (p.Val513=) c.1680C>A (p.Val560=) n.1855C>A | |
1 | g.247425123C= | CA1232098798 | NLRP3 | c.1674C= (p.Val558=) c.1539C= (p.Val513=) c.1680C= (p.Val560=) n.1855C= | |
1 | g.247425123C>G | CA424581208 | NLRP3 | c.1674C>G (p.Val558=) c.1539C>G (p.Val513=) c.1680C>G (p.Val560=) n.1855C>G | |
1 | g.247425123C>T | CA424581210 | NLRP3 | c.1674C>T (p.Val558=) c.1539C>T (p.Val513=) c.1680C>T (p.Val560=) n.1855C>T | ClinVar dbSNP gnomAD v4 |
1 | g.247425124C>A | CA345557564 | NLRP3 | c.1675C>A (p.Leu559Ile) c.1540C>A (p.Leu514Ile) c.1681C>A (p.Leu561Ile) n.1856C>A | |
1 | g.247425124C= | CA1232098802 | NLRP3 | c.1675C= (p.Leu559=) c.1540C= (p.Leu514=) c.1681C= (p.Leu561=) n.1856C= | |
1 | g.247425124C>G | CA345557565 | NLRP3 | c.1675C>G (p.Leu559Val) c.1540C>G (p.Leu514Val) c.1681C>G (p.Leu561Val) n.1856C>G | |
1 | g.247425124C>T | CA1495062 | NLRP3 | c.1675C>T (p.Leu559Phe) c.1540C>T (p.Leu514Phe) c.1681C>T (p.Leu561Phe) n.1856C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425126_247425128del | CA2573132111 | NLRP3 | c.1677_1679del (p.Leu560del) c.1542_1544del (p.Leu515del) c.1683_1685del (p.Leu562del) n.1858_1860del | ClinVar dbSNP gnomAD v4 |
1 | g.247425125T>A | CA345557566 | NLRP3 | c.1676T>A (p.Leu559His) c.1541T>A (p.Leu514His) c.1682T>A (p.Leu561His) n.1857T>A | |
1 | g.247425125T>C | CA345557567 | NLRP3 | c.1676T>C (p.Leu559Pro) c.1541T>C (p.Leu514Pro) c.1682T>C (p.Leu561Pro) n.1857T>C | |
1 | g.247425125T>G | CA345557568 | NLRP3 | c.1676T>G (p.Leu559Arg) c.1541T>G (p.Leu514Arg) c.1682T>G (p.Leu561Arg) n.1857T>G | |
1 | g.247425126T>A | CA424581222 | NLRP3 | c.1677T>A (p.Leu559=) c.1542T>A (p.Leu514=) c.1683T>A (p.Leu561=) n.1858T>A | |
1 | g.247425126T>C | CA424581220 | NLRP3 | c.1677T>C (p.Leu559=) c.1542T>C (p.Leu514=) c.1683T>C (p.Leu561=) n.1858T>C | |
1 | g.247425126T>G | CA424581217 | NLRP3 | c.1677T>G (p.Leu559=) c.1542T>G (p.Leu514=) c.1683T>G (p.Leu561=) n.1858T>G | |
1 | g.247425127C>A | CA345557569 | NLRP3 | c.1678C>A (p.Leu560Met) c.1543C>A (p.Leu515Met) c.1684C>A (p.Leu562Met) n.1859C>A | |
1 | g.247425127C>G | CA345557570 | NLRP3 | c.1678C>G (p.Leu560Val) c.1543C>G (p.Leu515Val) c.1684C>G (p.Leu562Val) n.1859C>G | |
1 | g.247425127C>T | CA424581229 | NLRP3 | c.1678C>T (p.Leu560=) c.1543C>T (p.Leu515=) c.1684C>T (p.Leu562=) n.1859C>T | |
1 | g.247425128T>A | CA345557571 | NLRP3 | c.1679T>A (p.Leu560Gln) c.1544T>A (p.Leu515Gln) c.1685T>A (p.Leu562Gln) n.1860T>A | |
1 | g.247425128T>C | CA345557572 | NLRP3 | c.1679T>C (p.Leu560Pro) c.1544T>C (p.Leu515Pro) c.1685T>C (p.Leu562Pro) n.1860T>C | |
1 | g.247425128T>G | CA345557573 | NLRP3 | c.1679T>G (p.Leu560Arg) c.1544T>G (p.Leu515Arg) c.1685T>G (p.Leu562Arg) n.1860T>G | |
1 | g.247425129G>A | CA424581240 | NLRP3 | c.1680G>A (p.Leu560=) c.1545G>A (p.Leu515=) c.1686G>A (p.Leu562=) n.1861G>A | |
1 | g.247425129G>C | CA424581238 | NLRP3 | c.1680G>C (p.Leu560=) c.1545G>C (p.Leu515=) c.1686G>C (p.Leu562=) n.1861G>C | |
1 | g.247425129G>T | CA424581235 | NLRP3 | c.1680G>T (p.Leu560=) c.1545G>T (p.Leu515=) c.1686G>T (p.Leu562=) n.1861G>T | COSMIC |
1 | g.247425130G>A | CA345557576 | NLRP3 | c.1681G>A (p.Glu561Lys) c.1546G>A (p.Glu516Lys) c.1687G>A (p.Glu563Lys) n.1862G>A | COSMIC |
1 | g.247425130G>C | CA345557575 | NLRP3 | c.1681G>C (p.Glu561Gln) c.1546G>C (p.Glu516Gln) c.1687G>C (p.Glu563Gln) n.1862G>C | |
1 | g.247425130G>T | CA345557574 | NLRP3 | c.1681G>T (p.Glu561Ter) c.1546G>T (p.Glu516Ter) c.1687G>T (p.Glu563Ter) n.1862G>T | |
1 | g.247425131A>C | CA345557577 | NLRP3 | c.1682A>C (p.Glu561Ala) c.1547A>C (p.Glu516Ala) c.1688A>C (p.Glu563Ala) n.1863A>C | |
1 | g.247425131A>G | CA345557578 | NLRP3 | c.1682A>G (p.Glu561Gly) c.1547A>G (p.Glu516Gly) c.1688A>G (p.Glu563Gly) n.1863A>G | |
1 | g.247425131A>T | CA345557579 | NLRP3 | c.1682A>T (p.Glu561Val) c.1547A>T (p.Glu516Val) c.1688A>T (p.Glu563Val) n.1863A>T | |
1 | g.247425132A>C | CA345557580 | NLRP3 | c.1683A>C (p.Glu561Asp) c.1548A>C (p.Glu516Asp) c.1689A>C (p.Glu563Asp) n.1864A>C | |
1 | g.247425132A>G | CA424581250 | NLRP3 | c.1683A>G (p.Glu561=) c.1548A>G (p.Glu516=) c.1689A>G (p.Glu563=) n.1864A>G | ClinVar |
1 | g.247425132A>T | CA345557581 | NLRP3 | c.1683A>T (p.Glu561Asp) c.1548A>T (p.Glu516Asp) c.1689A>T (p.Glu563Asp) n.1864A>T | |
1 | g.247425133A>C | CA345557582 | NLRP3 | c.1684A>C (p.Asn562His) c.1549A>C (p.Asn517His) c.1690A>C (p.Asn564His) n.1865A>C | |
1 | g.247425133A>G | CA345557583 | NLRP3 | c.1684A>G (p.Asn562Asp) c.1549A>G (p.Asn517Asp) c.1690A>G (p.Asn564Asp) n.1865A>G | |
1 | g.247425133A>T | CA345557584 | NLRP3 | c.1684A>T (p.Asn562Tyr) c.1549A>T (p.Asn517Tyr) c.1690A>T (p.Asn564Tyr) n.1865A>T | |
1 | g.247425134A>C | CA345557585 | NLRP3 | c.1685A>C (p.Asn562Thr) c.1550A>C (p.Asn517Thr) c.1691A>C (p.Asn564Thr) n.1866A>C | |
1 | g.247425134A>G | CA345557586 | NLRP3 | c.1685A>G (p.Asn562Ser) c.1550A>G (p.Asn517Ser) c.1691A>G (p.Asn564Ser) n.1866A>G | |
1 | g.247425134A>T | CA345557587 | NLRP3 | c.1685A>T (p.Asn562Ile) c.1550A>T (p.Asn517Ile) c.1691A>T (p.Asn564Ile) n.1866A>T | |
1 | g.247425135C>A | CA345557588 | NLRP3 | c.1686C>A (p.Asn562Lys) c.1551C>A (p.Asn517Lys) c.1692C>A (p.Asn564Lys) n.1867C>A | |
1 | g.247425135C= | CA1232098805 | NLRP3 | c.1686C= (p.Asn562=) c.1551C= (p.Asn517=) c.1692C= (p.Asn564=) n.1867C= | |
1 | g.247425135C>G | CA345557589 | NLRP3 | c.1686C>G (p.Asn562Lys) c.1551C>G (p.Asn517Lys) c.1692C>G (p.Asn564Lys) n.1867C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425135C>T | CA424581261 | NLRP3 | c.1686C>T (p.Asn562=) c.1551C>T (p.Asn517=) c.1692C>T (p.Asn564=) n.1867C>T | |
1 | g.247425136T>A | CA281250 | NLRP3 | c.1687T>A (p.Tyr563Asn) c.1552T>A (p.Tyr518Asn) c.1693T>A (p.Tyr565Asn) n.1868T>A | ClinVar dbSNP |
1 | g.247425136T>C | CA345557590 | NLRP3 | c.1687T>C (p.Tyr563His) c.1552T>C (p.Tyr518His) c.1693T>C (p.Tyr565His) n.1868T>C | |
1 | g.247425136T>G | CA345557591 | NLRP3 | c.1687T>G (p.Tyr563Asp) c.1552T>G (p.Tyr518Asp) c.1693T>G (p.Tyr565Asp) n.1868T>G | |
1 | g.247425136T= | CA1142421418 | NLRP3 | c.1687T= (p.Tyr563=) c.1552T= (p.Tyr518=) c.1693T= (p.Tyr565=) n.1868T= | |
1 | g.247425137A>C | CA345557592 | NLRP3 | c.1688A>C (p.Tyr563Ser) c.1553A>C (p.Tyr518Ser) c.1694A>C (p.Tyr565Ser) n.1869A>C | |
1 | g.247425137A>G | CA345557593 | NLRP3 | c.1688A>G (p.Tyr563Cys) c.1553A>G (p.Tyr518Cys) c.1694A>G (p.Tyr565Cys) n.1869A>G | |
1 | g.247425137A>T | CA345557594 | NLRP3 | c.1688A>T (p.Tyr563Phe) c.1553A>T (p.Tyr518Phe) c.1694A>T (p.Tyr565Phe) n.1869A>T | |
1 | g.247425138T>A | CA345557595 | NLRP3 | c.1689T>A (p.Tyr563Ter) c.1554T>A (p.Tyr518Ter) c.1695T>A (p.Tyr565Ter) n.1870T>A | |
1 | g.247425138T>C | CA1495063 | NLRP3 | c.1689T>C (p.Tyr563=) c.1554T>C (p.Tyr518=) c.1695T>C (p.Tyr565=) n.1870T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425138T>G | CA345557596 | NLRP3 | c.1689T>G (p.Tyr563Ter) c.1554T>G (p.Tyr518Ter) c.1695T>G (p.Tyr565Ter) n.1870T>G | gnomAD v4 |
1 | g.247425138T= | CA1143488166 | NLRP3 | c.1689T= (p.Tyr563=) c.1554T= (p.Tyr518=) c.1695T= (p.Tyr565=) n.1870T= | |
1 | g.247425139G>A | CA345557597 | NLRP3 | c.1690G>A (p.Gly564Ser) c.1555G>A (p.Gly519Ser) c.1696G>A (p.Gly566Ser) n.1871G>A | ClinVar dbSNP |
1 | g.247425139G>C | CA345557598 | NLRP3 | c.1690G>C (p.Gly564Arg) c.1555G>C (p.Gly519Arg) c.1696G>C (p.Gly566Arg) n.1871G>C | |
1 | g.247425139G>T | CA345557599 | NLRP3 | c.1690G>T (p.Gly564Cys) c.1555G>T (p.Gly519Cys) c.1696G>T (p.Gly566Cys) n.1871G>T | |
1 | g.247425140G>A | CA345557600 | NLRP3 | c.1691G>A (p.Gly564Asp) c.1556G>A (p.Gly519Asp) c.1697G>A (p.Gly566Asp) n.1872G>A | |
1 | g.247425140G>C | CA345557601 | NLRP3 | c.1691G>C (p.Gly564Ala) c.1556G>C (p.Gly519Ala) c.1697G>C (p.Gly566Ala) n.1872G>C | |
1 | g.247425140G>T | CA345557602 | NLRP3 | c.1691G>T (p.Gly564Val) c.1556G>T (p.Gly519Val) c.1697G>T (p.Gly566Val) n.1872G>T | |
1 | g.247425141C>A | CA424581284 | NLRP3 | c.1692C>A (p.Gly564=) c.1557C>A (p.Gly519=) c.1698C>A (p.Gly566=) n.1873C>A | |
1 | g.247425141C>G | CA424581286 | NLRP3 | c.1692C>G (p.Gly564=) c.1557C>G (p.Gly519=) c.1698C>G (p.Gly566=) n.1873C>G | |
1 | g.247425141C>T | CA424581288 | NLRP3 | c.1692C>T (p.Gly564=) c.1557C>T (p.Gly519=) c.1698C>T (p.Gly566=) n.1873C>T | |
1 | g.247425142A>C | CA345557605 | NLRP3 | c.1693A>C (p.Lys565Gln) c.1558A>C (p.Lys520Gln) c.1699A>C (p.Lys567Gln) n.1874A>C | |
1 | g.247425142A>G | CA345557604 | NLRP3 | c.1693A>G (p.Lys565Glu) c.1558A>G (p.Lys520Glu) c.1699A>G (p.Lys567Glu) n.1874A>G | |
1 | g.247425142A>T | CA345557603 | NLRP3 | c.1693A>T (p.Lys565Ter) c.1558A>T (p.Lys520Ter) c.1699A>T (p.Lys567Ter) n.1874A>T | |
1 | g.247425143A>C | CA345557606 | NLRP3 | c.1694A>C (p.Lys565Thr) c.1559A>C (p.Lys520Thr) c.1700A>C (p.Lys567Thr) n.1875A>C | |
1 | g.247425143A>G | CA345557608 | NLRP3 | c.1694A>G (p.Lys565Arg) c.1559A>G (p.Lys520Arg) c.1700A>G (p.Lys567Arg) n.1875A>G | |
1 | g.247425143A>T | CA345557607 | NLRP3 | c.1694A>T (p.Lys565Ile) c.1559A>T (p.Lys520Ile) c.1700A>T (p.Lys567Ile) n.1875A>T | |
1 | g.247425144A>C | CA345557609 | NLRP3 | c.1695A>C (p.Lys565Asn) c.1560A>C (p.Lys520Asn) c.1701A>C (p.Lys567Asn) n.1876A>C | |
1 | g.247425144A>G | CA424581297 | NLRP3 | c.1695A>G (p.Lys565=) c.1560A>G (p.Lys520=) c.1701A>G (p.Lys567=) n.1876A>G | |
1 | g.247425144A>T | CA345557610 | NLRP3 | c.1695A>T (p.Lys565Asn) c.1560A>T (p.Lys520Asn) c.1701A>T (p.Lys567Asn) n.1876A>T | |
1 | g.247425145T>A | CA345557611 | NLRP3 | c.1696T>A (p.Phe566Ile) c.1561T>A (p.Phe521Ile) c.1702T>A (p.Phe568Ile) n.1877T>A | COSMIC |
1 | g.247425145T>C | CA345557612 | NLRP3 | c.1696T>C (p.Phe566Leu) c.1561T>C (p.Phe521Leu) c.1702T>C (p.Phe568Leu) n.1877T>C | |
1 | g.247425145T>G | CA345557613 | NLRP3 | c.1696T>G (p.Phe566Val) c.1561T>G (p.Phe521Val) c.1702T>G (p.Phe568Val) n.1877T>G | |
1 | g.247425146T>A | CA345557614 | NLRP3 | c.1697T>A (p.Phe566Tyr) c.1562T>A (p.Phe521Tyr) c.1703T>A (p.Phe568Tyr) n.1878T>A | ClinVar dbSNP |
1 | g.247425146T>C | CA345557615 | NLRP3 | c.1697T>C (p.Phe566Ser) c.1562T>C (p.Phe521Ser) c.1703T>C (p.Phe568Ser) n.1878T>C | |
1 | g.247425146T>G | CA345557616 | NLRP3 | c.1697T>G (p.Phe566Cys) c.1562T>G (p.Phe521Cys) c.1703T>G (p.Phe568Cys) n.1878T>G | |
1 | g.247425146T= | CA1232098813 | NLRP3 | c.1697T= (p.Phe566=) c.1562T= (p.Phe521=) c.1703T= (p.Phe568=) n.1878T= | |
1 | g.247425147C>A | CA345557618 | NLRP3 | c.1698C>A (p.Phe566Leu) c.1563C>A (p.Phe521Leu) c.1704C>A (p.Phe568Leu) n.1879C>A | |
1 | g.247425147C= | CA1232098816 | NLRP3 | c.1698C= (p.Phe566=) c.1563C= (p.Phe521=) c.1704C= (p.Phe568=) n.1879C= | |
1 | g.247425147C>G | CA345557617 | NLRP3 | c.1698C>G (p.Phe566Leu) c.1563C>G (p.Phe521Leu) c.1704C>G (p.Phe568Leu) n.1879C>G | |
1 | g.247425147C>T | CA1495064 | NLRP3 | c.1698C>T (p.Phe566=) c.1563C>T (p.Phe521=) c.1704C>T (p.Phe568=) n.1879C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247425148G>A | CA281254 | NLRP3 | c.1699G>A (p.Glu567Lys) c.1564G>A (p.Glu522Lys) c.1705G>A (p.Glu569Lys) n.1880G>A | ClinVar dbSNP COSMIC |
1 | g.247425148G>C | CA345557619 | NLRP3 | c.1699G>C (p.Glu567Gln) c.1564G>C (p.Glu522Gln) c.1705G>C (p.Glu569Gln) n.1880G>C | |
1 | g.247425148G= | CA1141189466 | NLRP3 | c.1699G= (p.Glu567=) c.1564G= (p.Glu522=) c.1705G= (p.Glu569=) n.1880G= | |
1 | g.247425148G>T | CA345557620 | NLRP3 | c.1699G>T (p.Glu567Ter) c.1564G>T (p.Glu522Ter) c.1705G>T (p.Glu569Ter) n.1880G>T | |
1 | g.247425149A>C | CA345557621 | NLRP3 | c.1700A>C (p.Glu567Ala) c.1565A>C (p.Glu522Ala) c.1706A>C (p.Glu569Ala) n.1881A>C | ClinVar dbSNP |
1 | g.247425149A>G | CA345557622 | NLRP3 | c.1700A>G (p.Glu567Gly) c.1565A>G (p.Glu522Gly) c.1706A>G (p.Glu569Gly) n.1881A>G | ClinVar dbSNP |
1 | g.247425149A>T | CA345557623 | NLRP3 | c.1700A>T (p.Glu567Val) c.1565A>T (p.Glu522Val) c.1706A>T (p.Glu569Val) n.1881A>T | |
1 | g.247425150A= | CA1143537410 | NLRP3 | c.1701A= (p.Glu567=) c.1566A= (p.Glu522=) c.1707A= (p.Glu569=) n.1882A= | |
1 | g.247425150A>C | CA345557624 | NLRP3 | c.1701A>C (p.Glu567Asp) c.1566A>C (p.Glu522Asp) c.1707A>C (p.Glu569Asp) n.1882A>C | |
1 | g.247425150A>G | CA40692159 | NLRP3 | c.1701A>G (p.Glu567=) c.1566A>G (p.Glu522=) c.1707A>G (p.Glu569=) n.1882A>G | dbSNP |
1 | g.247425150A>T | CA345557625 | NLRP3 | c.1701A>T (p.Glu567Asp) c.1566A>T (p.Glu522Asp) c.1707A>T (p.Glu569Asp) n.1882A>T | |
1 | g.247425151A>C | CA345557626 | NLRP3 | c.1702A>C (p.Lys568Gln) c.1567A>C (p.Lys523Gln) c.1708A>C (p.Lys570Gln) n.1883A>C | |
1 | g.247425151A>G | CA345557627 | NLRP3 | c.1702A>G (p.Lys568Glu) c.1567A>G (p.Lys523Glu) c.1708A>G (p.Lys570Glu) n.1883A>G | |
1 | g.247425151A>T | CA345557628 | NLRP3 | c.1702A>T (p.Lys568Ter) c.1567A>T (p.Lys523Ter) c.1708A>T (p.Lys570Ter) n.1883A>T | |
1 | g.247425152A= | CA1232098829 | NLRP3 | c.1703A= (p.Lys568=) c.1568A= (p.Lys523=) c.1709A= (p.Lys570=) n.1884A= | |
1 | g.247425152A>C | CA345557629 | NLRP3 | c.1703A>C (p.Lys568Thr) c.1568A>C (p.Lys523Thr) c.1709A>C (p.Lys570Thr) n.1884A>C | |
1 | g.247425152A>G | CA345557630 | NLRP3 | c.1703A>G (p.Lys568Arg) c.1568A>G (p.Lys523Arg) c.1709A>G (p.Lys570Arg) n.1884A>G | dbSNP |
1 | g.247425152A>T | CA345557631 | NLRP3 | c.1703A>T (p.Lys568Met) c.1568A>T (p.Lys523Met) c.1709A>T (p.Lys570Met) n.1884A>T | |
1 | g.247425153G>A | CA424581654 | NLRP3 | c.1704G>A (p.Lys568=) c.1569G>A (p.Lys523=) c.1710G>A (p.Lys570=) n.1885G>A | dbSNP gnomAD v4 |
1 | g.247425153G>C | CA345557632 | NLRP3 | c.1704G>C (p.Lys568Asn) c.1569G>C (p.Lys523Asn) c.1710G>C (p.Lys570Asn) n.1885G>C | |
1 | g.247425153G= | CA1232098831 | NLRP3 | c.1704G= (p.Lys568=) c.1569G= (p.Lys523=) c.1710G= (p.Lys570=) n.1885G= | |
1 | g.247425153G>T | CA345557633 | NLRP3 | c.1704G>T (p.Lys568Asn) c.1569G>T (p.Lys523Asn) c.1710G>T (p.Lys570Asn) n.1885G>T | dbSNP COSMIC |
1 | g.247425156del | CA2651421044 | NLRP3 | c.1707del (p.Tyr570IlefsTer2) c.1572del (p.Tyr525IlefsTer2) c.1713del (p.Tyr572IlefsTer2) n.1888del | gnomAD v4 |
1 | g.247425154G>A | CA10577233 | NLRP3 | c.1705G>A (p.Gly569Arg) c.1570G>A (p.Gly524Arg) c.1711G>A (p.Gly571Arg) n.1886G>A | ClinVar dbSNP |
1 | g.247425154G>C | CA116788 | NLRP3 | c.1705G>C (p.Gly569Arg) c.1570G>C (p.Gly524Arg) c.1711G>C (p.Gly571Arg) n.1886G>C | ClinVar dbSNP |
1 | g.247425154G= | CA1141581527 | NLRP3 | c.1705G= (p.Gly569=) c.1570G= (p.Gly524=) c.1711G= (p.Gly571=) n.1886G= | |
1 | g.247425154G>T | CA345557634 | NLRP3 | c.1705G>T (p.Gly569Trp) c.1570G>T (p.Gly524Trp) c.1711G>T (p.Gly571Trp) n.1886G>T | dbSNP |
1 | g.247425155G>A | CA345557635 | NLRP3 | c.1706G>A (p.Gly569Glu) c.1571G>A (p.Gly524Glu) c.1712G>A (p.Gly571Glu) n.1887G>A | ClinVar |
1 | g.247425155G>C | CA281258 | NLRP3 | c.1706G>C (p.Gly569Ala) c.1571G>C (p.Gly524Ala) c.1712G>C (p.Gly571Ala) n.1887G>C | ClinVar dbSNP |
1 | g.247425155G= | CA1142421419 | NLRP3 | c.1706G= (p.Gly569=) c.1571G= (p.Gly524=) c.1712G= (p.Gly571=) n.1887G= | |
1 | g.247425155G>T | CA345557636 | NLRP3 | c.1706G>T (p.Gly569Val) c.1571G>T (p.Gly524Val) c.1712G>T (p.Gly571Val) n.1887G>T | |
1 | g.247425156G>A | CA424581662 | NLRP3 | c.1707G>A (p.Gly569=) c.1572G>A (p.Gly524=) c.1713G>A (p.Gly571=) n.1888G>A | |
1 | g.247425156G>C | CA424581664 | NLRP3 | c.1707G>C (p.Gly569=) c.1572G>C (p.Gly524=) c.1713G>C (p.Gly571=) n.1888G>C | |
1 | g.247425156G= | CA1232098856 | NLRP3 | c.1707G= (p.Gly569=) c.1572G= (p.Gly524=) c.1713G= (p.Gly571=) n.1888G= | |
1 | g.247425156G>T | CA1495065 | NLRP3 | c.1707G>T (p.Gly569=) c.1572G>T (p.Gly524=) c.1713G>T (p.Gly571=) n.1888G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425157T>A | CA345557637 | NLRP3 | c.1708T>A (p.Tyr570Asn) c.1573T>A (p.Tyr525Asn) c.1714T>A (p.Tyr572Asn) n.1889T>A | |
1 | g.247425157T>C | CA345557638 | NLRP3 | c.1708T>C (p.Tyr570His) c.1573T>C (p.Tyr525His) c.1714T>C (p.Tyr572His) n.1889T>C | dbSNP |
1 | g.247425157T>G | CA345557639 | NLRP3 | c.1708T>G (p.Tyr570Asp) c.1573T>G (p.Tyr525Asp) c.1714T>G (p.Tyr572Asp) n.1889T>G | |
1 | g.247425158A= | CA1142421420 | NLRP3 | c.1709A= (p.Tyr570=) c.1574A= (p.Tyr525=) c.1715A= (p.Tyr572=) n.1890A= | |
1 | g.247425158A>C | CA345557640 | NLRP3 | c.1709A>C (p.Tyr570Ser) c.1574A>C (p.Tyr525Ser) c.1715A>C (p.Tyr572Ser) n.1890A>C | |
1 | g.247425158A>G | CA281262 | NLRP3 | c.1709A>G (p.Tyr570Cys) c.1574A>G (p.Tyr525Cys) c.1715A>G (p.Tyr572Cys) n.1890A>G | ClinVar dbSNP |
1 | g.247425158A>T | CA281266 | NLRP3 | c.1709A>T (p.Tyr570Phe) c.1574A>T (p.Tyr525Phe) c.1715A>T (p.Tyr572Phe) n.1890A>T | ClinVar dbSNP |
1 | g.247425159T>A | CA345557641 | NLRP3 | c.1710T>A (p.Tyr570Ter) c.1575T>A (p.Tyr525Ter) c.1716T>A (p.Tyr572Ter) n.1891T>A | |
1 | g.247425159T>C | CA424581675 | NLRP3 | c.1710T>C (p.Tyr570=) c.1575T>C (p.Tyr525=) c.1716T>C (p.Tyr572=) n.1891T>C | |
1 | g.247425159T>G | CA345557642 | NLRP3 | c.1710T>G (p.Tyr570Ter) c.1575T>G (p.Tyr525Ter) c.1716T>G (p.Tyr572Ter) n.1891T>G | |
1 | g.247425160T>A | CA345557643 | NLRP3 | c.1711T>A (p.Leu571Met) c.1576T>A (p.Leu526Met) c.1717T>A (p.Leu573Met) n.1892T>A | |
1 | g.247425160T>C | CA424581677 | NLRP3 | c.1711T>C (p.Leu571=) c.1576T>C (p.Leu526=) c.1717T>C (p.Leu573=) n.1892T>C | |
1 | g.247425160T>G | CA345557644 | NLRP3 | c.1711T>G (p.Leu571Val) c.1576T>G (p.Leu526Val) c.1717T>G (p.Leu573Val) n.1892T>G | ClinVar dbSNP |
1 | g.247425160T= | CA1232098868 | NLRP3 | c.1711T= (p.Leu571=) c.1576T= (p.Leu526=) c.1717T= (p.Leu573=) n.1892T= | |
1 | g.247425161T>A | CA345557647 | NLRP3 | c.1712T>A (p.Leu571Ter) c.1577T>A (p.Leu526Ter) c.1718T>A (p.Leu573Ter) n.1893T>A | |
1 | g.247425161T>C | CA345557646 | NLRP3 | c.1712T>C (p.Leu571Ser) c.1577T>C (p.Leu526Ser) c.1718T>C (p.Leu573Ser) n.1893T>C | |
1 | g.247425161T>G | CA345557645 | NLRP3 | c.1712T>G (p.Leu571Trp) c.1577T>G (p.Leu526Trp) c.1718T>G (p.Leu573Trp) n.1893T>G | ClinVar |
1 | g.247425162G>A | CA424581682 | NLRP3 | c.1713G>A (p.Leu571=) c.1578G>A (p.Leu526=) c.1719G>A (p.Leu573=) n.1894G>A | gnomAD v4 |
1 | g.247425162G>C | CA345557648 | NLRP3 | c.1713G>C (p.Leu571Phe) c.1578G>C (p.Leu526Phe) c.1719G>C (p.Leu573Phe) n.1894G>C | |
1 | g.247425162G= | CA1142421421 | NLRP3 | c.1713G= (p.Leu571=) c.1578G= (p.Leu526=) c.1719G= (p.Leu573=) n.1894G= | |
1 | g.247425162G>T | CA281270 | NLRP3 | c.1713G>T (p.Leu571Phe) c.1578G>T (p.Leu526Phe) c.1719G>T (p.Leu573Phe) n.1894G>T | ClinVar dbSNP |
1 | g.247425163A= | CA1142421422 | NLRP3 | c.1714A= (p.Ile572=) c.1579A= (p.Ile527=) c.1720A= (p.Ile574=) n.1895A= | |
1 | g.247425163A>C | CA345557649 | NLRP3 | c.1714A>C (p.Ile572Leu) c.1579A>C (p.Ile527Leu) c.1720A>C (p.Ile574Leu) n.1895A>C | |
1 | g.247425163A>G | CA345557650 | NLRP3 | c.1714A>G (p.Ile572Val) c.1579A>G (p.Ile527Val) c.1720A>G (p.Ile574Val) n.1895A>G | |
1 | g.247425163A>T | CA281274 | NLRP3 | c.1714A>T (p.Ile572Phe) c.1579A>T (p.Ile527Phe) c.1720A>T (p.Ile574Phe) n.1895A>T | ClinVar dbSNP |
1 | g.247425164T>A | CA345557651 | NLRP3 | c.1715T>A (p.Ile572Asn) c.1580T>A (p.Ile527Asn) c.1721T>A (p.Ile574Asn) n.1896T>A | |
1 | g.247425164T>C | CA345557652 | NLRP3 | c.1715T>C (p.Ile572Thr) c.1580T>C (p.Ile527Thr) c.1721T>C (p.Ile574Thr) n.1896T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425164T>G | CA345557653 | NLRP3 | c.1715T>G (p.Ile572Ser) c.1580T>G (p.Ile527Ser) c.1721T>G (p.Ile574Ser) n.1896T>G | |
1 | g.247425164T= | CA1232098885 | NLRP3 | c.1715T= (p.Ile572=) c.1580T= (p.Ile527=) c.1721T= (p.Ile574=) n.1896T= | |
1 | g.247425168del | CA2748523221 | NLRP3 | c.1719del (p.Phe573LeufsTer10) c.1584del (p.Phe528LeufsTer10) c.1725del (p.Phe575LeufsTer10) n.1900del | |
1 | g.247425165T>A | CA424581695 | NLRP3 | c.1716T>A (p.Ile572=) c.1581T>A (p.Ile527=) c.1722T>A (p.Ile574=) n.1897T>A | |
1 | g.247425165T>C | CA424581699 | NLRP3 | c.1716T>C (p.Ile572=) c.1581T>C (p.Ile527=) c.1722T>C (p.Ile574=) n.1897T>C | |
1 | g.247425165T>G | CA345557654 | NLRP3 | c.1716T>G (p.Ile572Met) c.1581T>G (p.Ile527Met) c.1722T>G (p.Ile574Met) n.1897T>G | |
1 | g.247425166T>A | CA345557655 | NLRP3 | c.1717T>A (p.Phe573Ile) c.1582T>A (p.Phe528Ile) c.1723T>A (p.Phe575Ile) n.1898T>A | |
1 | g.247425166T>C | CA345557656 | NLRP3 | c.1717T>C (p.Phe573Leu) c.1582T>C (p.Phe528Leu) c.1723T>C (p.Phe575Leu) n.1898T>C | |
1 | g.247425166T>G | CA345557657 | NLRP3 | c.1717T>G (p.Phe573Val) c.1582T>G (p.Phe528Val) c.1723T>G (p.Phe575Val) n.1898T>G | |
1 | g.247425167T>A | CA345557659 | NLRP3 | c.1718T>A (p.Phe573Tyr) c.1583T>A (p.Phe528Tyr) c.1724T>A (p.Phe575Tyr) n.1899T>A | |
1 | g.247425167T>C | CA116792 | NLRP3 | c.1718T>C (p.Phe573Ser) c.1583T>C (p.Phe528Ser) c.1724T>C (p.Phe575Ser) n.1899T>C | ClinVar dbSNP |
1 | g.247425167T>G | CA345557658 | NLRP3 | c.1718T>G (p.Phe573Cys) c.1583T>G (p.Phe528Cys) c.1724T>G (p.Phe575Cys) n.1899T>G | |
1 | g.247425167T= | CA1141581528 | NLRP3 | c.1718T= (p.Phe573=) c.1583T= (p.Phe528=) c.1724T= (p.Phe575=) n.1899T= | |
1 | g.247425168T>A | CA345557661 | NLRP3 | c.1719T>A (p.Phe573Leu) c.1584T>A (p.Phe528Leu) c.1725T>A (p.Phe575Leu) n.1900T>A | |
1 | g.247425168T>C | CA424581710 | NLRP3 | c.1719T>C (p.Phe573=) c.1584T>C (p.Phe528=) c.1725T>C (p.Phe575=) n.1900T>C | |
1 | g.247425168T>G | CA345557660 | NLRP3 | c.1719T>G (p.Phe573Leu) c.1584T>G (p.Phe528Leu) c.1725T>G (p.Phe575Leu) n.1900T>G | |
1 | g.247425169G>A | CA345557662 | NLRP3 | c.1720G>A (p.Val574Ile) c.1585G>A (p.Val529Ile) c.1726G>A (p.Val576Ile) n.1901G>A | gnomAD v4 |
1 | g.247425169G>C | CA345557663 | NLRP3 | c.1720G>C (p.Val574Leu) c.1585G>C (p.Val529Leu) c.1726G>C (p.Val576Leu) n.1901G>C | |
1 | g.247425169G>T | CA345557664 | NLRP3 | c.1720G>T (p.Val574Phe) c.1585G>T (p.Val529Phe) c.1726G>T (p.Val576Phe) n.1901G>T | |
1 | g.247425170T>A | CA345557665 | NLRP3 | c.1721T>A (p.Val574Asp) c.1586T>A (p.Val529Asp) c.1727T>A (p.Val576Asp) n.1902T>A | |
1 | g.247425170T>C | CA345557666 | NLRP3 | c.1721T>C (p.Val574Ala) c.1586T>C (p.Val529Ala) c.1727T>C (p.Val576Ala) n.1902T>C | |
1 | g.247425170T>G | CA345557667 | NLRP3 | c.1721T>G (p.Val574Gly) c.1586T>G (p.Val529Gly) c.1727T>G (p.Val576Gly) n.1902T>G | |
1 | g.247425171T>A | CA424581719 | NLRP3 | c.1722T>A (p.Val574=) c.1587T>A (p.Val529=) c.1728T>A (p.Val576=) n.1903T>A | |
1 | g.247425171T>C | CA424581720 | NLRP3 | c.1722T>C (p.Val574=) c.1587T>C (p.Val529=) c.1728T>C (p.Val576=) n.1903T>C | |
1 | g.247425171T>G | CA424581723 | NLRP3 | c.1722T>G (p.Val574=) c.1587T>G (p.Val529=) c.1728T>G (p.Val576=) n.1903T>G | |
1 | g.247425172G>A | CA345557668 | NLRP3 | c.1723G>A (p.Val575Ile) c.1588G>A (p.Val530Ile) c.1729G>A (p.Val577Ile) n.1904G>A | |
1 | g.247425172G>C | CA345557669 | NLRP3 | c.1723G>C (p.Val575Leu) c.1588G>C (p.Val530Leu) c.1729G>C (p.Val577Leu) n.1904G>C | |
1 | g.247425172G>T | CA345557670 | NLRP3 | c.1723G>T (p.Val575Leu) c.1588G>T (p.Val530Leu) c.1729G>T (p.Val577Leu) n.1904G>T | |
1 | g.247425173T>A | CA345557671 | NLRP3 | c.1724T>A (p.Val575Glu) c.1589T>A (p.Val530Glu) c.1730T>A (p.Val577Glu) n.1905T>A | |
1 | g.247425173T>C | CA345557672 | NLRP3 | c.1724T>C (p.Val575Ala) c.1589T>C (p.Val530Ala) c.1730T>C (p.Val577Ala) n.1905T>C | gnomAD v4 |
1 | g.247425173T>G | CA345557673 | NLRP3 | c.1724T>G (p.Val575Gly) c.1589T>G (p.Val530Gly) c.1730T>G (p.Val577Gly) n.1905T>G | |
1 | g.247425174A>C | CA424581736 | NLRP3 | c.1725A>C (p.Val575=) c.1590A>C (p.Val530=) c.1731A>C (p.Val577=) n.1906A>C | |
1 | g.247425174A>G | CA424581733 | NLRP3 | c.1725A>G (p.Val575=) c.1590A>G (p.Val530=) c.1731A>G (p.Val577=) n.1906A>G | |
1 | g.247425174A>T | CA424581734 | NLRP3 | c.1725A>T (p.Val575=) c.1590A>T (p.Val530=) c.1731A>T (p.Val577=) n.1906A>T | |
1 | g.247425175C>A | CA345557676 | NLRP3 | c.1726C>A (p.Arg576Ser) c.1591C>A (p.Arg531Ser) c.1732C>A (p.Arg578Ser) n.1907C>A | |
1 | g.247425175C= | CA1232098893 | NLRP3 | c.1726C= (p.Arg576=) c.1591C= (p.Arg531=) c.1732C= (p.Arg578=) n.1907C= | |
1 | g.247425175C>G | CA345557675 | NLRP3 | c.1726C>G (p.Arg576Gly) c.1591C>G (p.Arg531Gly) c.1732C>G (p.Arg578Gly) n.1907C>G | |
1 | g.247425175C>T | CA345557674 | NLRP3 | c.1726C>T (p.Arg576Cys) c.1591C>T (p.Arg531Cys) c.1732C>T (p.Arg578Cys) n.1907C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247425176G>A | CA345557677 | NLRP3 | c.1727G>A (p.Arg576His) c.1592G>A (p.Arg531His) c.1733G>A (p.Arg578His) n.1908G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247425176G>C | CA345557678 | NLRP3 | c.1727G>C (p.Arg576Pro) c.1592G>C (p.Arg531Pro) c.1733G>C (p.Arg578Pro) n.1908G>C | |
1 | g.247425176G= | CA1232098894 | NLRP3 | c.1727G= (p.Arg576=) c.1592G= (p.Arg531=) c.1733G= (p.Arg578=) n.1908G= | |
1 | g.247425176G>T | CA345557679 | NLRP3 | c.1727G>T (p.Arg576Leu) c.1592G>T (p.Arg531Leu) c.1733G>T (p.Arg578Leu) n.1908G>T | |
1 | g.247425177T>A | CA424581742 | NLRP3 | c.1728T>A (p.Arg576=) c.1593T>A (p.Arg531=) c.1734T>A (p.Arg578=) n.1909T>A | |
1 | g.247425177T>C | CA424581743 | NLRP3 | c.1728T>C (p.Arg576=) c.1593T>C (p.Arg531=) c.1734T>C (p.Arg578=) n.1909T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425177T>G | CA424581745 | NLRP3 | c.1728T>G (p.Arg576=) c.1593T>G (p.Arg531=) c.1734T>G (p.Arg578=) n.1909T>G | |
1 | g.247425177T= | CA1232098898 | NLRP3 | c.1728T= (p.Arg576=) c.1593T= (p.Arg531=) c.1734T= (p.Arg578=) n.1909T= | |
1 | g.247425178T>A | CA345557680 | NLRP3 | c.1729T>A (p.Phe577Ile) c.1594T>A (p.Phe532Ile) c.1735T>A (p.Phe579Ile) n.1910T>A | |
1 | g.247425178T>C | CA345557681 | NLRP3 | c.1729T>C (p.Phe577Leu) c.1594T>C (p.Phe532Leu) c.1735T>C (p.Phe579Leu) n.1910T>C | |
1 | g.247425178T>G | CA345557682 | NLRP3 | c.1729T>G (p.Phe577Val) c.1594T>G (p.Phe532Val) c.1735T>G (p.Phe579Val) n.1910T>G | |
1 | g.247425179T>A | CA345557683 | NLRP3 | c.1730T>A (p.Phe577Tyr) c.1595T>A (p.Phe532Tyr) c.1736T>A (p.Phe579Tyr) n.1911T>A | |
1 | g.247425179T>C | CA345557684 | NLRP3 | c.1730T>C (p.Phe577Ser) c.1595T>C (p.Phe532Ser) c.1736T>C (p.Phe579Ser) n.1911T>C | |
1 | g.247425179T>G | CA345557685 | NLRP3 | c.1730T>G (p.Phe577Cys) c.1595T>G (p.Phe532Cys) c.1736T>G (p.Phe579Cys) n.1911T>G | |
1 | g.247425180C>A | CA345557686 | NLRP3 | c.1731C>A (p.Phe577Leu) c.1596C>A (p.Phe532Leu) c.1737C>A (p.Phe579Leu) n.1912C>A | |
1 | g.247425180C= | CA1143439172 | NLRP3 | c.1731C= (p.Phe577=) c.1596C= (p.Phe532=) c.1737C= (p.Phe579=) n.1912C= | |
1 | g.247425180C>G | CA40692203 | NLRP3 | c.1731C>G (p.Phe577Leu) c.1596C>G (p.Phe532Leu) c.1737C>G (p.Phe579Leu) n.1912C>G | dbSNP |
1 | g.247425180C>T | CA424581754 | NLRP3 | c.1731C>T (p.Phe577=) c.1596C>T (p.Phe532=) c.1737C>T (p.Phe579=) n.1912C>T | |
1 | g.247425181C>A | CA345557687 | NLRP3 | c.1732C>A (p.Leu578Ile) c.1597C>A (p.Leu533Ile) c.1738C>A (p.Leu580Ile) n.1913C>A | |
1 | g.247425181C>G | CA345557688 | NLRP3 | c.1732C>G (p.Leu578Val) c.1597C>G (p.Leu533Val) c.1738C>G (p.Leu580Val) n.1913C>G | |
1 | g.247425181C>T | CA345557689 | NLRP3 | c.1732C>T (p.Leu578Phe) c.1597C>T (p.Leu533Phe) c.1738C>T (p.Leu580Phe) n.1913C>T | |
1 | g.247425182T>A | CA345557691 | NLRP3 | c.1733T>A (p.Leu578His) c.1598T>A (p.Leu533His) c.1739T>A (p.Leu580His) n.1914T>A | |
1 | g.247425182T>C | CA345557692 | NLRP3 | c.1733T>C (p.Leu578Pro) c.1598T>C (p.Leu533Pro) c.1739T>C (p.Leu580Pro) n.1914T>C | |
1 | g.247425182T>G | CA345557690 | NLRP3 | c.1733T>G (p.Leu578Arg) c.1598T>G (p.Leu533Arg) c.1739T>G (p.Leu580Arg) n.1914T>G | |
1 | g.247425183C>A | CA424581764 | NLRP3 | c.1734C>A (p.Leu578=) c.1599C>A (p.Leu533=) c.1740C>A (p.Leu580=) n.1915C>A | |
1 | g.247425183C= | CA1232098904 | NLRP3 | c.1734C= (p.Leu578=) c.1599C= (p.Leu533=) c.1740C= (p.Leu580=) n.1915C= | |
1 | g.247425183C>G | CA1495066 | NLRP3 | c.1734C>G (p.Leu578=) c.1599C>G (p.Leu533=) c.1740C>G (p.Leu580=) n.1915C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247425183C>T | CA424581766 | NLRP3 | c.1734C>T (p.Leu578=) c.1599C>T (p.Leu533=) c.1740C>T (p.Leu580=) n.1915C>T | COSMIC |
1 | g.247425184T>A | CA345557693 | NLRP3 | c.1735T>A (p.Phe579Ile) c.1600T>A (p.Phe534Ile) c.1741T>A (p.Phe581Ile) n.1916T>A | |
1 | g.247425184T>C | CA345557694 | NLRP3 | c.1735T>C (p.Phe579Leu) c.1600T>C (p.Phe534Leu) c.1741T>C (p.Phe581Leu) n.1916T>C | |
1 | g.247425184T>G | CA345557695 | NLRP3 | c.1735T>G (p.Phe579Val) c.1600T>G (p.Phe534Val) c.1741T>G (p.Phe581Val) n.1916T>G | |
1 | g.247425185T>A | CA345557696 | NLRP3 | c.1736T>A (p.Phe579Tyr) c.1601T>A (p.Phe534Tyr) c.1742T>A (p.Phe581Tyr) n.1917T>A | |
1 | g.247425185T>C | CA1495067 | NLRP3 | c.1736T>C (p.Phe579Ser) c.1601T>C (p.Phe534Ser) c.1742T>C (p.Phe581Ser) n.1917T>C | dbSNP ExAC gnomAD v2 COSMIC |
1 | g.247425185T>G | CA345557697 | NLRP3 | c.1736T>G (p.Phe579Cys) c.1601T>G (p.Phe534Cys) c.1742T>G (p.Phe581Cys) n.1917T>G | |
1 | g.247425185T= | CA1232098906 | NLRP3 | c.1736T= (p.Phe579=) c.1601T= (p.Phe534=) c.1742T= (p.Phe581=) n.1917T= | |
1 | g.247425186T>A | CA345557698 | NLRP3 | c.1737T>A (p.Phe579Leu) c.1602T>A (p.Phe534Leu) c.1743T>A (p.Phe581Leu) n.1918T>A | |
1 | g.247425186T>C | CA424581775 | NLRP3 | c.1737T>C (p.Phe579=) c.1602T>C (p.Phe534=) c.1743T>C (p.Phe581=) n.1918T>C | |
1 | g.247425186T>G | CA345557699 | NLRP3 | c.1737T>G (p.Phe579Leu) c.1602T>G (p.Phe534Leu) c.1743T>G (p.Phe581Leu) n.1918T>G | |
1 | g.247425187G>A | CA345557700 | NLRP3 | c.1738G>A (p.Gly580Ser) c.1603G>A (p.Gly535Ser) c.1744G>A (p.Gly582Ser) n.1919G>A | |
1 | g.247425187G>C | CA345557701 | NLRP3 | c.1738G>C (p.Gly580Arg) c.1603G>C (p.Gly535Arg) c.1744G>C (p.Gly582Arg) n.1919G>C | |
1 | g.247425187G>T | CA345557702 | NLRP3 | c.1738G>T (p.Gly580Cys) c.1603G>T (p.Gly535Cys) c.1744G>T (p.Gly582Cys) n.1919G>T | |
1 | g.247425188G>A | CA345557705 | NLRP3 | c.1739G>A (p.Gly580Asp) c.1604G>A (p.Gly535Asp) c.1745G>A (p.Gly582Asp) n.1920G>A | |
1 | g.247425188G>C | CA345557703 | NLRP3 | c.1739G>C (p.Gly580Ala) c.1604G>C (p.Gly535Ala) c.1745G>C (p.Gly582Ala) n.1920G>C | |
1 | g.247425188G>T | CA345557704 | NLRP3 | c.1739G>T (p.Gly580Val) c.1604G>T (p.Gly535Val) c.1745G>T (p.Gly582Val) n.1920G>T | gnomAD v4 |