| 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 |