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