Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.54937811_54942169dupCA407860473NLRP7c.-39-386_2129+266dup
c.-39-386_2045+266dup
c.46-386_2213+266dup
n.480-386_2647+266dup
 ClinVar
19g.54939253_54939423delCA2510689401NLRP7c.1399_1569del (p.Ile467_Phe523del)
c.1483_1653del (p.Ile495_Phe551del)
n.1917_2087del
19g.54939275_54939281delinsAGGTCGGCA2343150798NLRP7c.1538_1544delinsCCGACCT (p.Pro513=)
c.1622_1628delinsCCGACCT (p.Pro541=)
n.2056_2062delinsCCGACCT
19g.54939279_54939284delCA2343150799NLRP7c.1538_1543del (p.Pro513_Asp514del)
c.1622_1627del (p.Pro541_Asp542del)
n.2056_2061del
 dbSNP
19g.54939280G>ACA997220777NLRP7c.1539C>T (p.Pro513=)
c.1623C>T (p.Pro541=)
n.2057C>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939280G>CCA2343150805NLRP7c.1539C>G (p.Pro513=)
c.1623C>G (p.Pro541=)
n.2057C>G
 dbSNP
19g.54939280G=CA2343150804NLRP7c.1539C= (p.Pro513=)
c.1623C= (p.Pro541=)
n.2057C=
19g.54939281G>ACA407861767NLRP7c.1538C>T (p.Pro513Leu)
c.1622C>T (p.Pro541Leu)
n.2056C>T
 gnomAD v4
19g.54939281G>CCA407861768NLRP7c.1538C>G (p.Pro513Arg)
c.1622C>G (p.Pro541Arg)
n.2056C>G
 dbSNP
19g.54939281G=CA2343150806NLRP7c.1538C= (p.Pro513=)
c.1622C= (p.Pro541=)
n.2056C=
19g.54939281G>TCA407861769NLRP7c.1538C>A (p.Pro513His)
c.1622C>A (p.Pro541His)
n.2056C>A
19g.54939282G>ACA310017686NLRP7c.1537C>T (p.Pro513Ser)
c.1621C>T (p.Pro541Ser)
n.2055C>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939282G>CCA407861770NLRP7c.1537C>G (p.Pro513Ala)
c.1621C>G (p.Pro541Ala)
n.2055C>G
19g.54939282G=CA2343150807NLRP7c.1537C= (p.Pro513=)
c.1621C= (p.Pro541=)
n.2055C=
19g.54939282G>TCA407861771NLRP7c.1537C>A (p.Pro513Thr)
c.1621C>A (p.Pro541Thr)
n.2055C>A
 dbSNP gnomAD v3 gnomAD v4
19g.54939283G>ACA883692081NLRP7c.1536C>T (p.Asn512=)
c.1620C>T (p.Asn540=)
n.2054C>T
 dbSNP gnomAD v4
19g.54939283G>CCA407861772NLRP7c.1536C>G (p.Asn512Lys)
c.1620C>G (p.Asn540Lys)
n.2054C>G
19g.54939283G=CA2343150808NLRP7c.1536C= (p.Asn512=)
c.1620C= (p.Asn540=)
n.2054C=
19g.54939283G>TCA407861773NLRP7c.1536C>A (p.Asn512Lys)
c.1620C>A (p.Asn540Lys)
n.2054C>A
19g.54939284T>ACA407861776NLRP7c.1535A>T (p.Asn512Ile)
c.1619A>T (p.Asn540Ile)
n.2053A>T
 dbSNP gnomAD v4
19g.54939284T>CCA407861775NLRP7c.1535A>G (p.Asn512Ser)
c.1619A>G (p.Asn540Ser)
n.2053A>G
19g.54939284T>GCA407861774NLRP7c.1535A>C (p.Asn512Thr)
c.1619A>C (p.Asn540Thr)
n.2053A>C
19g.54939284T=CA2343150809NLRP7c.1535A= (p.Asn512=)
c.1619A= (p.Asn540=)
n.2053A=
19g.54939285T>ACA407861777NLRP7c.1534A>T (p.Asn512Tyr)
c.1618A>T (p.Asn540Tyr)
n.2052A>T
19g.54939285T>CCA407861778NLRP7c.1534A>G (p.Asn512Asp)
c.1618A>G (p.Asn540Asp)
n.2052A>G
19g.54939285T>GCA407861779NLRP7c.1534A>C (p.Asn512His)
c.1618A>C (p.Asn540His)
n.2052A>C
19g.54939286C>ACA407861780NLRP7c.1533G>T (p.Lys511Asn)
c.1617G>T (p.Lys539Asn)
n.2051G>T
19g.54939286C>GCA407861781NLRP7c.1533G>C (p.Lys511Asn)
c.1617G>C (p.Lys539Asn)
n.2051G>C
19g.54939287T>ACA407861782NLRP7c.1532A>T (p.Lys511Met)
c.1616A>T (p.Lys539Met)
n.2050A>T
19g.54939287T>CCA310017690NLRP7c.1532A>G (p.Lys511Arg)
c.1616A>G (p.Lys539Arg)
n.2050A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.54939287T>GCA407861783NLRP7c.1532A>C (p.Lys511Thr)
c.1616A>C (p.Lys539Thr)
n.2050A>C
19g.54939287T=CA2343150810NLRP7c.1532A= (p.Lys511=)
c.1616A= (p.Lys539=)
n.2050A=
19g.54939288T>ACA407861784NLRP7c.1531A>T (p.Lys511Ter)
c.1615A>T (p.Lys539Ter)
n.2049A>T
19g.54939288T>CCA407861785NLRP7c.1531A>G (p.Lys511Glu)
c.1615A>G (p.Lys539Glu)
n.2049A>G
19g.54939288T>GCA407861786NLRP7c.1531A>C (p.Lys511Gln)
c.1615A>C (p.Lys539Gln)
n.2049A>C
19g.54939289G>CCA310017691NLRP7c.1530C>G (p.Leu510=)
c.1614C>G (p.Leu538=)
n.2048C>G
 dbSNP gnomAD v4
19g.54939289G=CA2343150811NLRP7c.1530C= (p.Leu510=)
c.1614C= (p.Leu538=)
n.2048C=
19g.54939290A>CCA407861788NLRP7c.1529T>G (p.Leu510Arg)
c.1613T>G (p.Leu538Arg)
n.2047T>G
19g.54939290A>GCA407861789NLRP7c.1529T>C (p.Leu510Pro)
c.1613T>C (p.Leu538Pro)
n.2047T>C
19g.54939290A>TCA407861787NLRP7c.1529T>A (p.Leu510His)
c.1613T>A (p.Leu538His)
n.2047T>A
19g.54939291G>ACA407861790NLRP7c.1528C>T (p.Leu510Phe)
c.1612C>T (p.Leu538Phe)
n.2046C>T
19g.54939291G>CCA407861791NLRP7c.1528C>G (p.Leu510Val)
c.1612C>G (p.Leu538Val)
n.2046C>G
 dbSNP gnomAD v4
19g.54939291G=CA2343150812NLRP7c.1528C= (p.Leu510=)
c.1612C= (p.Leu538=)
n.2046C=
19g.54939291G>TCA407861792NLRP7c.1528C>A (p.Leu510Ile)
c.1612C>A (p.Leu538Ile)
n.2046C>A
19g.54939292T>ACA407861793NLRP7c.1527A>T (p.Arg509Ser)
c.1611A>T (p.Arg537Ser)
n.2045A>T
19g.54939292T>CCA310017693NLRP7c.1527A>G (p.Arg509=)
c.1611A>G (p.Arg537=)
n.2045A>G
 dbSNP
19g.54939292T>GCA407861794NLRP7c.1527A>C (p.Arg509Ser)
c.1611A>C (p.Arg537Ser)
n.2045A>C
19g.54939292T=CA2343150813NLRP7c.1527A= (p.Arg509=)
c.1611A= (p.Arg537=)
n.2045A=
19g.54939293C>ACA407861795NLRP7c.1526G>T (p.Arg509Ile)
c.1610G>T (p.Arg537Ile)
n.2044G>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939293C=CA2343150814NLRP7c.1526G= (p.Arg509=)
c.1610G= (p.Arg537=)
n.2044G=
19g.54939293C>GCA407861796NLRP7c.1526G>C (p.Arg509Thr)
c.1610G>C (p.Arg537Thr)
n.2044G>C
 gnomAD v4
19g.54939293C>TCA407861797NLRP7c.1526G>A (p.Arg509Lys)
c.1610G>A (p.Arg537Lys)
n.2044G>A
 dbSNP
19g.54939294T>ACA407861798NLRP7c.1525A>T (p.Arg509Ter)
c.1609A>T (p.Arg537Ter)
n.2043A>T
19g.54939294T>CCA407861799NLRP7c.1525A>G (p.Arg509Gly)
c.1609A>G (p.Arg537Gly)
n.2043A>G
 dbSNP gnomAD v4
19g.54939294T=CA2343150815NLRP7c.1525A= (p.Arg509=)
c.1609A= (p.Arg537=)
n.2043A=
19g.54939294_54939297delinsTTTCCA2343150816NLRP7c.1522_1525delinsGAAA (p.Glu508=)
c.1606_1609delinsGAAA (p.Glu536=)
n.2040_2043delinsGAAA
19g.54939295T>ACA407861800NLRP7c.1524A>T (p.Glu508Asp)
c.1608A>T (p.Glu536Asp)
n.2042A>T
19g.54939295T>CCA883692101NLRP7c.1524A>G (p.Glu508=)
c.1608A>G (p.Glu536=)
n.2042A>G
 dbSNP gnomAD v4
19g.54939295T>GCA407861801NLRP7c.1524A>C (p.Glu508Asp)
c.1608A>C (p.Glu536Asp)
n.2042A>C
19g.54939295T=CA2343150818NLRP7c.1524A= (p.Glu508=)
c.1608A= (p.Glu536=)
n.2042A=
19g.54939299_54939301delCA2343150817NLRP7c.1522_1524del (p.Glu508del)
c.1606_1608del (p.Glu536del)
n.2040_2042del
 dbSNP
19g.54939296T>ACA407861803NLRP7c.1523A>T (p.Glu508Val)
c.1607A>T (p.Glu536Val)
n.2041A>T
19g.54939296T>CCA407861804NLRP7c.1523A>G (p.Glu508Gly)
c.1607A>G (p.Glu536Gly)
n.2041A>G
19g.54939296T>GCA407861802NLRP7c.1523A>C (p.Glu508Ala)
c.1607A>C (p.Glu536Ala)
n.2041A>C
19g.54939297C>ACA407861805NLRP7c.1522G>T (p.Glu508Ter)
c.1606G>T (p.Glu536Ter)
n.2040G>T
 gnomAD v4
19g.54939297C=CA2343150819NLRP7c.1522G= (p.Glu508=)
c.1606G= (p.Glu536=)
n.2040G=
19g.54939297C>GCA407861806NLRP7c.1522G>C (p.Glu508Gln)
c.1606G>C (p.Glu536Gln)
n.2040G>C
19g.54939297C>TCA310017694NLRP7c.1522G>A (p.Glu508Lys)
c.1606G>A (p.Glu536Lys)
n.2040G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
19g.54939298T>ACA407861807NLRP7c.1521A>T (p.Glu507Asp)
c.1605A>T (p.Glu535Asp)
n.2039A>T
19g.54939298T>CCA883692111NLRP7c.1521A>G (p.Glu507=)
c.1605A>G (p.Glu535=)
n.2039A>G
 dbSNP
19g.54939298T>GCA407861808NLRP7c.1521A>C (p.Glu507Asp)
c.1605A>C (p.Glu535Asp)
n.2039A>C
19g.54939298T=CA2343150820NLRP7c.1521A= (p.Glu507=)
c.1605A= (p.Glu535=)
n.2039A=
19g.54939299T>ACA310017699NLRP7c.1520A>T (p.Glu507Val)
c.1604A>T (p.Glu535Val)
n.2038A>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
19g.54939299T>CCA407861809NLRP7c.1520A>G (p.Glu507Gly)
c.1604A>G (p.Glu535Gly)
n.2038A>G
19g.54939299T>GCA407861810NLRP7c.1520A>C (p.Glu507Ala)
c.1604A>C (p.Glu535Ala)
n.2038A>C
19g.54939299T=CA2343150821NLRP7c.1520A= (p.Glu507=)
c.1604A= (p.Glu535=)
n.2038A=
19g.54939300C>ACA407861811NLRP7c.1519G>T (p.Glu507Ter)
c.1603G>T (p.Glu535Ter)
n.2037G>T
 dbSNP gnomAD v4
19g.54939300C=CA2343150822NLRP7c.1519G= (p.Glu507=)
c.1603G= (p.Glu535=)
n.2037G=
19g.54939300C>GCA407861812NLRP7c.1519G>C (p.Glu507Gln)
c.1603G>C (p.Glu535Gln)
n.2037G>C
19g.54939300C>TCA407861813NLRP7c.1519G>A (p.Glu507Lys)
c.1603G>A (p.Glu535Lys)
n.2037G>A
 dbSNP gnomAD v4
19g.54939300dupCA2587198341NLRP7c.1519dup (p.Glu507GlyfsTer21)
c.1603dup (p.Glu535GlyfsTer21)
n.2037dup
 gnomAD v4
19g.54939301T>ACA2814873269NLRP7c.1518A>T (p.Gly506=)
c.1602A>T (p.Gly534=)
n.2036A>T
19g.54939301T>CCA2587198343NLRP7c.1518A>G (p.Gly506=)
c.1602A>G (p.Gly534=)
n.2036A>G
 gnomAD v4
19g.54939302C>ACA407861814NLRP7c.1517G>T (p.Gly506Val)
c.1601G>T (p.Gly534Val)
n.2035G>T
19g.54939302C=CA2343150823NLRP7c.1517G= (p.Gly506=)
c.1601G= (p.Gly534=)
n.2035G=
19g.54939302C>GCA407861815NLRP7c.1517G>C (p.Gly506Ala)
c.1601G>C (p.Gly534Ala)
n.2035G>C
 dbSNP gnomAD v4
19g.54939302C>TCA407861816NLRP7c.1517G>A (p.Gly506Glu)
c.1601G>A (p.Gly534Glu)
n.2035G>A
 gnomAD v4
19g.54939303C>ACA407861818NLRP7c.1516G>T (p.Gly506Ter)
c.1600G>T (p.Gly534Ter)
n.2034G>T
 COSMIC COSMIC COSMIC
19g.54939303C=CA2343150824NLRP7c.1516G= (p.Gly506=)
c.1600G= (p.Gly534=)
n.2034G=
19g.54939303C>GCA407861819NLRP7c.1516G>C (p.Gly506Arg)
c.1600G>C (p.Gly534Arg)
n.2034G>C
19g.54939303C>TCA407861817NLRP7c.1516G>A (p.Gly506Arg)
c.1600G>A (p.Gly534Arg)
n.2034G>A
 dbSNP gnomAD v4
19g.54939304G>ACA883692116NLRP7c.1515C>T (p.Ser505=)
c.1599C>T (p.Ser533=)
n.2033C>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939304G>CCA997220788NLRP7c.1515C>G (p.Ser505=)
c.1599C>G (p.Ser533=)
n.2033C>G
 dbSNP gnomAD v3 gnomAD v4
19g.54939304G=CA2343150825NLRP7c.1515C= (p.Ser505=)
c.1599C= (p.Ser533=)
n.2033C=
19g.54939305G>ACA310017703NLRP7c.1514C>T (p.Ser505Phe)
c.1598C>T (p.Ser533Phe)
n.2032C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
19g.54939305G>CCA407861820NLRP7c.1514C>G (p.Ser505Cys)
c.1598C>G (p.Ser533Cys)
n.2032C>G
 gnomAD v4 COSMIC COSMIC COSMIC
19g.54939305G=CA2343150826NLRP7c.1514C= (p.Ser505=)
c.1598C= (p.Ser533=)
n.2032C=
19g.54939305G>TCA407861821NLRP7c.1514C>A (p.Ser505Tyr)
c.1598C>A (p.Ser533Tyr)
n.2032C>A
19g.54939306A>CCA407861822NLRP7c.1513T>G (p.Ser505Ala)
c.1597T>G (p.Ser533Ala)
n.2031T>G
19g.54939306A>GCA407861823NLRP7c.1513T>C (p.Ser505Pro)
c.1597T>C (p.Ser533Pro)
n.2031T>C
19g.54939306A>TCA407861824NLRP7c.1513T>A (p.Ser505Thr)
c.1597T>A (p.Ser533Thr)
n.2031T>A
19g.54939307A>TCA2587198344NLRP7c.1512T>A (p.Leu504=)
c.1596T>A (p.Leu532=)
n.2030T>A
 gnomAD v4
19g.54939308A=CA2343150827NLRP7c.1511T= (p.Leu504=)
c.1595T= (p.Leu532=)
n.2029T=
19g.54939308A>CCA407861825NLRP7c.1511T>G (p.Leu504Arg)
c.1595T>G (p.Leu532Arg)
n.2029T>G
19g.54939308A>GCA310017711NLRP7c.1511T>C (p.Leu504Pro)
c.1595T>C (p.Leu532Pro)
n.2029T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.54939308A>TCA407861826NLRP7c.1511T>A (p.Leu504His)
c.1595T>A (p.Leu532His)
n.2029T>A
19g.54939309G>ACA407861827NLRP7c.1510C>T (p.Leu504Phe)
c.1594C>T (p.Leu532Phe)
n.2028C>T
 gnomAD v4
19g.54939309G>CCA407861828NLRP7c.1510C>G (p.Leu504Val)
c.1594C>G (p.Leu532Val)
n.2028C>G
19g.54939309G>TCA407861829NLRP7c.1510C>A (p.Leu504Ile)
c.1594C>A (p.Leu532Ile)
n.2028C>A
19g.54939311A>CCA407861830NLRP7c.1508T>G (p.Leu503Arg)
c.1592T>G (p.Leu531Arg)
n.2026T>G
19g.54939311A>GCA407861831NLRP7c.1508T>C (p.Leu503Pro)
c.1592T>C (p.Leu531Pro)
n.2026T>C
 gnomAD v4
19g.54939311A>TCA407861832NLRP7c.1508T>A (p.Leu503Gln)
c.1592T>A (p.Leu531Gln)
n.2026T>A
19g.54939312G>ACA883692128NLRP7c.1507C>T (p.Leu503=)
c.1591C>T (p.Leu531=)
n.2025C>T
 dbSNP gnomAD v4
19g.54939312G>CCA407861833NLRP7c.1507C>G (p.Leu503Val)
c.1591C>G (p.Leu531Val)
n.2025C>G
 dbSNP gnomAD v4
19g.54939312G=CA2343150828NLRP7c.1507C= (p.Leu503=)
c.1591C= (p.Leu531=)
n.2025C=
19g.54939312G>TCA407861834NLRP7c.1507C>A (p.Leu503Met)
c.1591C>A (p.Leu531Met)
n.2025C>A
19g.54939313C>ACA407861835NLRP7c.1506G>T (p.Lys502Asn)
c.1590G>T (p.Lys530Asn)
n.2024G>T
19g.54939313C=CA2343150829NLRP7c.1506G= (p.Lys502=)
c.1590G= (p.Lys530=)
n.2024G=
19g.54939313C>GCA407861836NLRP7c.1506G>C (p.Lys502Asn)
c.1590G>C (p.Lys530Asn)
n.2024G>C
19g.54939313C>TCA883692129NLRP7c.1506G>A (p.Lys502=)
c.1590G>A (p.Lys530=)
n.2024G>A
 dbSNP gnomAD v4
19g.54939314T>ACA407861837NLRP7c.1505A>T (p.Lys502Met)
c.1589A>T (p.Lys530Met)
n.2023A>T
19g.54939314T>CCA407861838NLRP7c.1505A>G (p.Lys502Arg)
c.1589A>G (p.Lys530Arg)
n.2023A>G
 gnomAD v4
19g.54939314T>GCA407861839NLRP7c.1505A>C (p.Lys502Thr)
c.1589A>C (p.Lys530Thr)
n.2023A>C
19g.54939314T=CA2343150830NLRP7c.1505A= (p.Lys502=)
c.1589A= (p.Lys530=)
n.2023A=
19g.54939315T>ACA407861842NLRP7c.1504A>T (p.Lys502Ter)
c.1588A>T (p.Lys530Ter)
n.2022A>T
 gnomAD v4
19g.54939315T>CCA407861841NLRP7c.1504A>G (p.Lys502Glu)
c.1588A>G (p.Lys530Glu)
n.2022A>G
19g.54939315T>GCA407861840NLRP7c.1504A>C (p.Lys502Gln)
c.1588A>C (p.Lys530Gln)
n.2022A>C
19g.54939315T=CA2343150831NLRP7c.1504A= (p.Lys502=)
c.1588A= (p.Lys530=)
n.2022A=
19g.54939317_54939333dupCA883692133NLRP7c.1488_1504dup (p.Lys502ThrfsTer20)
c.1572_1588dup (p.Lys530ThrfsTer20)
n.2006_2022dup
 dbSNP gnomAD v4
19g.54939316C>ACA407861843NLRP7c.1503G>T (p.Gln501His)
c.1587G>T (p.Gln529His)
n.2021G>T
 gnomAD v4
19g.54939316C>GCA407861844NLRP7c.1503G>C (p.Gln501His)
c.1587G>C (p.Gln529His)
n.2021G>C
19g.54939316dupCA310017720NLRP7c.1503dup (p.Lys502GlufsTer26)
c.1587dup (p.Lys530GlufsTer26)
n.2021dup
 dbSNP
19g.54939317T>ACA407861845NLRP7c.1502A>T (p.Gln501Leu)
c.1586A>T (p.Gln529Leu)
n.2020A>T
19g.54939317T>CCA407861846NLRP7c.1502A>G (p.Gln501Arg)
c.1586A>G (p.Gln529Arg)
n.2020A>G
19g.54939317T>GCA407861847NLRP7c.1502A>C (p.Gln501Pro)
c.1586A>C (p.Gln529Pro)
n.2020A>C
19g.54939318G>ACA407861848NLRP7c.1501C>T (p.Gln501Ter)
c.1585C>T (p.Gln529Ter)
n.2019C>T
19g.54939318G>CCA407861850NLRP7c.1501C>G (p.Gln501Glu)
c.1585C>G (p.Gln529Glu)
n.2019C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.54939318G=CA2343150832NLRP7c.1501C= (p.Gln501=)
c.1585C= (p.Gln529=)
n.2019C=
19g.54939318G>TCA407861849NLRP7c.1501C>A (p.Gln501Lys)
c.1585C>A (p.Gln529Lys)
n.2019C>A
19g.54939320A=CA2343150833NLRP7c.1499T= (p.Val500=)
c.1583T= (p.Val528=)
n.2017T=
19g.54939320A>CCA407861851NLRP7c.1499T>G (p.Val500Gly)
c.1583T>G (p.Val528Gly)
n.2017T>G
19g.54939320A>GCA310017727NLRP7c.1499T>C (p.Val500Ala)
c.1583T>C (p.Val528Ala)
n.2017T>C
 dbSNP gnomAD v4
19g.54939320A>TCA407861852NLRP7c.1499T>A (p.Val500Glu)
c.1583T>A (p.Val528Glu)
n.2017T>A
19g.54939321C>ACA407861853NLRP7c.1498G>T (p.Val500Leu)
c.1582G>T (p.Val528Leu)
n.2016G>T
 dbSNP gnomAD v4
19g.54939321C=CA2343150834NLRP7c.1498G= (p.Val500=)
c.1582G= (p.Val528=)
n.2016G=
19g.54939321C>GCA407861854NLRP7c.1498G>C (p.Val500Leu)
c.1582G>C (p.Val528Leu)
n.2016G>C
19g.54939321C>TCA407861855NLRP7c.1498G>A (p.Val500Ile)
c.1582G>A (p.Val528Ile)
n.2016G>A
 gnomAD v4 COSMIC COSMIC COSMIC
19g.54939322G>ACA2343150836NLRP7c.1497C>T (p.Asp499=)
c.1581C>T (p.Asp527=)
n.2015C>T
 dbSNP gnomAD v4
19g.54939322G>CCA310017733NLRP7c.1497C>G (p.Asp499Glu)
c.1581C>G (p.Asp527Glu)
n.2015C>G
 dbSNP gnomAD v3 gnomAD v4
19g.54939322G=CA2343150835NLRP7c.1497C= (p.Asp499=)
c.1581C= (p.Asp527=)
n.2015C=
19g.54939322G>TCA407861856NLRP7c.1497C>A (p.Asp499Glu)
c.1581C>A (p.Asp527Glu)
n.2015C>A
 gnomAD v4
19g.54939327_54939335dupCA883692144NLRP7c.1489_1497dup (p.Asp499_Val500insIleGlyAsp)
c.1573_1581dup (p.Asp527_Val528insIleGlyAsp)
n.2007_2015dup
 dbSNP gnomAD v3 gnomAD v4
19g.54939323T>ACA310017735NLRP7c.1496A>T (p.Asp499Val)
c.1580A>T (p.Asp527Val)
n.2014A>T
 dbSNP gnomAD v4
19g.54939323T>CCA407861857NLRP7c.1496A>G (p.Asp499Gly)
c.1580A>G (p.Asp527Gly)
n.2014A>G
19g.54939323T>GCA407861858NLRP7c.1496A>C (p.Asp499Ala)
c.1580A>C (p.Asp527Ala)
n.2014A>C
19g.54939323T=CA2343150837NLRP7c.1496A= (p.Asp499=)
c.1580A= (p.Asp527=)
n.2014A=
19g.54939324C>ACA407861859NLRP7c.1495G>T (p.Asp499Tyr)
c.1579G>T (p.Asp527Tyr)
n.2013G>T
19g.54939324C>GCA407861860NLRP7c.1495G>C (p.Asp499His)
c.1579G>C (p.Asp527His)
n.2013G>C
19g.54939324C>TCA407861861NLRP7c.1495G>A (p.Asp499Asn)
c.1579G>A (p.Asp527Asn)
n.2013G>A
 gnomAD v4
19g.54939327delCA2587198346NLRP7c.1495del (p.Asp499ThrfsTer17)
c.1579del (p.Asp527ThrfsTer17)
n.2013del
 gnomAD v4
19g.54939325C>ACA883692157NLRP7c.1494G>T (p.Gly498=)
c.1578G>T (p.Gly526=)
n.2012G>T
 dbSNP gnomAD v4
19g.54939325C=CA2343150838NLRP7c.1494G= (p.Gly498=)
c.1578G= (p.Gly526=)
n.2012G=
19g.54939325C>TCA2587198347NLRP7c.1494G>A (p.Gly498=)
c.1578G>A (p.Gly526=)
n.2012G>A
 gnomAD v4
19g.54939326C>ACA407861862NLRP7c.1493G>T (p.Gly498Val)
c.1577G>T (p.Gly526Val)
n.2011G>T
19g.54939326C=CA2343150839NLRP7c.1493G= (p.Gly498=)
c.1577G= (p.Gly526=)
n.2011G=
19g.54939326C>GCA407861863NLRP7c.1493G>C (p.Gly498Ala)
c.1577G>C (p.Gly526Ala)
n.2011G>C
19g.54939326C>TCA310017740NLRP7c.1493G>A (p.Gly498Glu)
c.1577G>A (p.Gly526Glu)
n.2011G>A
 dbSNP
19g.54939327C>ACA407861864NLRP7c.1492G>T (p.Gly498Trp)
c.1576G>T (p.Gly526Trp)
n.2010G>T
19g.54939327C=CA2343150840NLRP7c.1492G= (p.Gly498=)
c.1576G= (p.Gly526=)
n.2010G=
19g.54939327C>GCA407861865NLRP7c.1492G>C (p.Gly498Arg)
c.1576G>C (p.Gly526Arg)
n.2010G>C
19g.54939327C>TCA310017746NLRP7c.1492G>A (p.Gly498Arg)
c.1576G>A (p.Gly526Arg)
n.2010G>A
 dbSNP gnomAD v3 gnomAD v4
19g.54939328G>ACA310017750NLRP7c.1491C>T (p.Ile497=)
c.1575C>T (p.Ile525=)
n.2009C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.54939328G>CCA407861866NLRP7c.1491C>G (p.Ile497Met)
c.1575C>G (p.Ile525Met)
n.2009C>G
19g.54939328G=CA2343150841NLRP7c.1491C= (p.Ile497=)
c.1575C= (p.Ile525=)
n.2009C=
19g.54939328G>TCA310017755NLRP7c.1491C>A (p.Ile497=)
c.1575C>A (p.Ile525=)
n.2009C>A
 dbSNP gnomAD v3 gnomAD v4
19g.54939329A=CA2343150842NLRP7c.1490T= (p.Ile497=)
c.1574T= (p.Ile525=)
n.2008T=
19g.54939329A>CCA407861867NLRP7c.1490T>G (p.Ile497Ser)
c.1574T>G (p.Ile525Ser)
n.2008T>G
19g.54939329A>GCA310017770NLRP7c.1490T>C (p.Ile497Thr)
c.1574T>C (p.Ile525Thr)
n.2008T>C
 dbSNP gnomAD v3 gnomAD v4
19g.54939329A>TCA407861868NLRP7c.1490T>A (p.Ile497Asn)
c.1574T>A (p.Ile525Asn)
n.2008T>A
19g.54939330T>ACA407861869NLRP7c.1489A>T (p.Ile497Phe)
c.1573A>T (p.Ile525Phe)
n.2007A>T
19g.54939330T>CCA407861870NLRP7c.1489A>G (p.Ile497Val)
c.1573A>G (p.Ile525Val)
n.2007A>G
19g.54939330T>GCA407861871NLRP7c.1489A>C (p.Ile497Leu)
c.1573A>C (p.Ile525Leu)
n.2007A>C
19g.54939331G>ACA310017786NLRP7c.1488C>T (p.Asp496=)
c.1572C>T (p.Asp524=)
n.2006C>T
 ClinVar dbSNP gnomAD v4
19g.54939331G>CCA407861872NLRP7c.1488C>G (p.Asp496Glu)
c.1572C>G (p.Asp524Glu)
n.2006C>G
19g.54939331G=CA2343150843NLRP7c.1488C= (p.Asp496=)
c.1572C= (p.Asp524=)
n.2006C=
19g.54939331G>TCA310017791NLRP7c.1488C>A (p.Asp496Glu)
c.1572C>A (p.Asp524Glu)
n.2006C>A
 dbSNP
19g.54939332T>ACA407861873NLRP7c.1487A>T (p.Asp496Val)
c.1571A>T (p.Asp524Val)
n.2005A>T
19g.54939332T>CCA407861875NLRP7c.1487A>G (p.Asp496Gly)
c.1571A>G (p.Asp524Gly)
n.2005A>G
19g.54939332T>GCA407861874NLRP7c.1487A>C (p.Asp496Ala)
c.1571A>C (p.Asp524Ala)
n.2005A>C
19g.54939333C>ACA407861876NLRP7c.1486G>T (p.Asp496Tyr)
c.1570G>T (p.Asp524Tyr)
n.2004G>T
19g.54939333C=CA2343150844NLRP7c.1486G= (p.Asp496=)
c.1570G= (p.Asp524=)
n.2004G=
19g.54939333C>GCA407861878NLRP7c.1486G>C (p.Asp496His)
c.1570G>C (p.Asp524His)
n.2004G>C
 dbSNP
19g.54939333C>TCA407861877NLRP7c.1486G>A (p.Asp496Asn)
c.1570G>A (p.Asp524Asn)
n.2004G>A
19g.54939334C>ACA407861879NLRP7c.1485G>T (p.Trp495Cys)
c.1569G>T (p.Trp523Cys)
n.2003G>T
19g.54939334C>GCA407861881NLRP7c.1485G>C (p.Trp495Cys)
c.1569G>C (p.Trp523Cys)
n.2003G>C
19g.54939334C>TCA407861880NLRP7c.1485G>A (p.Trp495Ter)
c.1569G>A (p.Trp523Ter)
n.2003G>A
19g.54939335C>ACA407861882NLRP7c.1484G>T (p.Trp495Leu)
c.1568G>T (p.Trp523Leu)
n.2002G>T
 dbSNP
19g.54939335C=CA2343150845NLRP7c.1484G= (p.Trp495=)
c.1568G= (p.Trp523=)
n.2002G=
19g.54939335C>GCA407861883NLRP7c.1484G>C (p.Trp495Ser)
c.1568G>C (p.Trp523Ser)
n.2002G>C
19g.54939335C>TCA407861884NLRP7c.1484G>A (p.Trp495Ter)
c.1568G>A (p.Trp523Ter)
n.2002G>A
 dbSNP COSMIC COSMIC COSMIC
19g.54939336A>CCA407861885NLRP7c.1483T>G (p.Trp495Gly)
c.1567T>G (p.Trp523Gly)
n.2001T>G
 dbSNP gnomAD v4
19g.54939336A>GCA407861886NLRP7c.1483T>C (p.Trp495Arg)
c.1567T>C (p.Trp523Arg)
n.2001T>C
19g.54939336A>TCA407861887NLRP7c.1483T>A (p.Trp495Arg)
c.1567T>A (p.Trp523Arg)
n.2001T>A
19g.54939337G>ACA310017792NLRP7c.1482C>T (p.Ala494=)
c.1566C>T (p.Ala522=)
n.2000C>T
 dbSNP gnomAD v4
19g.54939337G=CA2343150846NLRP7c.1482C= (p.Ala494=)
c.1566C= (p.Ala522=)
n.2000C=
19g.54939338G>ACA407861888NLRP7c.1481C>T (p.Ala494Val)
c.1565C>T (p.Ala522Val)
n.1999C>T
19g.54939338G>CCA407861889NLRP7c.1481C>G (p.Ala494Gly)
c.1565C>G (p.Ala522Gly)
n.1999C>G
19g.54939338G>TCA407861890NLRP7c.1481C>A (p.Ala494Asp)
c.1565C>A (p.Ala522Asp)
n.1999C>A
19g.54939339C>ACA407861891NLRP7c.1480G>T (p.Ala494Ser)
c.1564G>T (p.Ala522Ser)
n.1998G>T
19g.54939339C=CA2343150847NLRP7c.1480G= (p.Ala494=)
c.1564G= (p.Ala522=)
n.1998G=
19g.54939339C>GCA407861892NLRP7c.1480G>C (p.Ala494Pro)
c.1564G>C (p.Ala522Pro)
n.1998G>C
19g.54939339C>TCA310017797NLRP7c.1480G>A (p.Ala494Thr)
c.1564G>A (p.Ala522Thr)
n.1998G>A
 dbSNP gnomAD v3 gnomAD v4
19g.54939340G>ACA310017801NLRP7c.1479C>T (p.His493=)
c.1563C>T (p.His521=)
n.1997C>T
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
19g.54939340G>CCA407861893NLRP7c.1479C>G (p.His493Gln)
c.1563C>G (p.His521Gln)
n.1997C>G
19g.54939340G=CA2343150848NLRP7c.1479C= (p.His493=)
c.1563C= (p.His521=)
n.1997C=
19g.54939340G>TCA407861894NLRP7c.1479C>A (p.His493Gln)
c.1563C>A (p.His521Gln)
n.1997C>A
19g.54939341T>ACA407861895NLRP7c.1478A>T (p.His493Leu)
c.1562A>T (p.His521Leu)
n.1996A>T
19g.54939341T>CCA407861896NLRP7c.1478A>G (p.His493Arg)
c.1562A>G (p.His521Arg)
n.1996A>G
19g.54939341T>GCA310017806NLRP7c.1478A>C (p.His493Pro)
c.1562A>C (p.His521Pro)
n.1996A>C
 dbSNP gnomAD v3 gnomAD v4
19g.54939341T=CA2343150849NLRP7c.1478A= (p.His493=)
c.1562A= (p.His521=)
n.1996A=
19g.54939342G>ACA407861897NLRP7c.1477C>T (p.His493Tyr)
c.1561C>T (p.His521Tyr)
n.1995C>T
 COSMIC COSMIC COSMIC
19g.54939342G>CCA407861898NLRP7c.1477C>G (p.His493Asp)
c.1561C>G (p.His521Asp)
n.1995C>G
19g.54939342G>TCA407861899NLRP7c.1477C>A (p.His493Asn)
c.1561C>A (p.His521Asn)
n.1995C>A
19g.54939343G>ACA2736091331NLRP7c.1476C>T (p.Gly492=)
c.1560C>T (p.Gly520=)
n.1994C>T
 dbSNP
19g.54939344C>ACA407861900NLRP7c.1475G>T (p.Gly492Val)
c.1559G>T (p.Gly520Val)
n.1993G>T
19g.54939344C=CA2343150850NLRP7c.1475G= (p.Gly492=)
c.1559G= (p.Gly520=)
n.1993G=
19g.54939344C>GCA407861901NLRP7c.1475G>C (p.Gly492Ala)
c.1559G>C (p.Gly520Ala)
n.1993G>C
19g.54939344C>TCA407861902NLRP7c.1475G>A (p.Gly492Asp)
c.1559G>A (p.Gly520Asp)
n.1993G>A
 dbSNP gnomAD v4
19g.54939345C>ACA407861903NLRP7c.1474G>T (p.Gly492Cys)
c.1558G>T (p.Gly520Cys)
n.1992G>T
 COSMIC COSMIC
19g.54939345C=CA2343150851NLRP7c.1474G= (p.Gly492=)
c.1558G= (p.Gly520=)
n.1992G=
19g.54939345C>GCA407861904NLRP7c.1474G>C (p.Gly492Arg)
c.1558G>C (p.Gly520Arg)
n.1992G>C
19g.54939345C>TCA310017809NLRP7c.1474G>A (p.Gly492Ser)
c.1558G>A (p.Gly520Ser)
n.1992G>A
 dbSNP gnomAD v3 gnomAD v4
19g.54939346G>ACA2582272716NLRP7c.1473C>T (p.Asp491=)
c.1557C>T (p.Asp519=)
n.1991C>T
 gnomAD v3 gnomAD v4
19g.54939346G>CCA310017811NLRP7c.1473C>G (p.Asp491Glu)
c.1557C>G (p.Asp519Glu)
n.1991C>G
 dbSNP gnomAD v4
19g.54939346G=CA2343150852NLRP7c.1473C= (p.Asp491=)
c.1557C= (p.Asp519=)
n.1991C=
19g.54939346G>TCA407861905NLRP7c.1473C>A (p.Asp491Glu)
c.1557C>A (p.Asp519Glu)
n.1991C>A
 dbSNP gnomAD v4
19g.54939347T>ACA407861906NLRP7c.1472A>T (p.Asp491Val)
c.1556A>T (p.Asp519Val)
n.1990A>T
19g.54939347T>CCA407861907NLRP7c.1472A>G (p.Asp491Gly)
c.1556A>G (p.Asp519Gly)
n.1990A>G
 gnomAD v4
19g.54939347T>GCA407861908NLRP7c.1472A>C (p.Asp491Ala)
c.1556A>C (p.Asp519Ala)
n.1990A>C
 dbSNP
19g.54939347T=CA2343150853NLRP7c.1472A= (p.Asp491=)
c.1556A= (p.Asp519=)
n.1990A=
19g.54939348C>ACA407861909NLRP7c.1471G>T (p.Asp491Tyr)
c.1555G>T (p.Asp519Tyr)
n.1989G>T
19g.54939348C=CA2343150854NLRP7c.1471G= (p.Asp491=)
c.1555G= (p.Asp519=)
n.1989G=
19g.54939348C>GCA407861910NLRP7c.1471G>C (p.Asp491His)
c.1555G>C (p.Asp519His)
n.1989G>C
19g.54939348C>TCA407861911NLRP7c.1471G>A (p.Asp491Asn)
c.1555G>A (p.Asp519Asn)
n.1989G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.54939349C>ACA407861912NLRP7c.1470G>T (p.Arg490Ser)
c.1554G>T (p.Arg518Ser)
n.1988G>T
19g.54939349C=CA2343150855NLRP7c.1470G= (p.Arg490=)
c.1554G= (p.Arg518=)
n.1988G=
19g.54939349C>GCA407861913NLRP7c.1470G>C (p.Arg490Ser)
c.1554G>C (p.Arg518Ser)
n.1988G>C
19g.54939349C>TCA645620183NLRP7c.1470G>A (p.Arg490=)
c.1554G>A (p.Arg518=)
n.1988G>A
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
19g.54939350C>ACA407861914NLRP7c.1469G>T (p.Arg490Met)
c.1553G>T (p.Arg518Met)
n.1987G>T
19g.54939350C>GCA407861915NLRP7c.1469G>C (p.Arg490Thr)
c.1553G>C (p.Arg518Thr)
n.1987G>C
19g.54939350C>TCA407861916NLRP7c.1469G>A (p.Arg490Lys)
c.1553G>A (p.Arg518Lys)
n.1987G>A
 COSMIC COSMIC COSMIC
19g.54939351T>ACA407861917NLRP7c.1468A>T (p.Arg490Trp)
c.1552A>T (p.Arg518Trp)
n.1986A>T
19g.54939351T>CCA407861918NLRP7c.1468A>G (p.Arg490Gly)
c.1552A>G (p.Arg518Gly)
n.1986A>G
19g.54939352G>ACA310017814NLRP7c.1467C>T (p.Asp489=)
c.1551C>T (p.Asp517=)
n.1985C>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939352G>CCA407861919NLRP7c.1467C>G (p.Asp489Glu)
c.1551C>G (p.Asp517Glu)
n.1985C>G
19g.54939352G=CA2343150856NLRP7c.1467C= (p.Asp489=)
c.1551C= (p.Asp517=)
n.1985C=
19g.54939352G>TCA407861920NLRP7c.1467C>A (p.Asp489Glu)
c.1551C>A (p.Asp517Glu)
n.1985C>A
19g.54939353T>ACA407861921NLRP7c.1466A>T (p.Asp489Val)
c.1550A>T (p.Asp517Val)
n.1984A>T
19g.54939353T>CCA407861922NLRP7c.1466A>G (p.Asp489Gly)
c.1550A>G (p.Asp517Gly)
n.1984A>G
19g.54939353T>GCA407861923NLRP7c.1466A>C (p.Asp489Ala)
c.1550A>C (p.Asp517Ala)
n.1984A>C
19g.54939356_54939358dupCA310017820NLRP7c.1464_1466dup (p.Glu488_Asp489insGlu)
c.1548_1550dup (p.Glu516_Asp517insGlu)
n.1982_1984dup
 ClinVar dbSNP
19g.54939354C>ACA407861924NLRP7c.1465G>T (p.Asp489Tyr)
c.1549G>T (p.Asp517Tyr)
n.1983G>T
19g.54939354C>GCA407861925NLRP7c.1465G>C (p.Asp489His)
c.1549G>C (p.Asp517His)
n.1983G>C
19g.54939354C>TCA407861926NLRP7c.1465G>A (p.Asp489Asn)
c.1549G>A (p.Asp517Asn)
n.1983G>A
19g.54939355C>ACA407861927NLRP7c.1464G>T (p.Glu488Asp)
c.1548G>T (p.Glu516Asp)
n.1982G>T
19g.54939355C>GCA407861928NLRP7c.1464G>C (p.Glu488Asp)
c.1548G>C (p.Glu516Asp)
n.1982G>C
19g.54939355C>TCA2518872469NLRP7c.1464G>A (p.Glu488=)
c.1548G>A (p.Glu516=)
n.1982G>A
 gnomAD v4
19g.54939356T>ACA407861929NLRP7c.1463A>T (p.Glu488Val)
c.1547A>T (p.Glu516Val)
n.1981A>T
19g.54939356T>CCA310017826NLRP7c.1463A>G (p.Glu488Gly)
c.1547A>G (p.Glu516Gly)
n.1981A>G
 dbSNP gnomAD v3 gnomAD v4
19g.54939356T>GCA407861930NLRP7c.1463A>C (p.Glu488Ala)
c.1547A>C (p.Glu516Ala)
n.1981A>C
19g.54939356T=CA2343150857NLRP7c.1463A= (p.Glu488=)
c.1547A= (p.Glu516=)
n.1981A=
19g.54939356_54939359delinsTCCCCA2343150858NLRP7c.1460_1463delinsGGGA (p.Gly487=)
c.1544_1547delinsGGGA (p.Gly515=)
n.1978_1981delinsGGGA
19g.54939357C>ACA407861931NLRP7c.1462G>T (p.Glu488Ter)
c.1546G>T (p.Glu516Ter)
n.1980G>T
19g.54939357C>GCA407861932NLRP7c.1462G>C (p.Glu488Gln)
c.1546G>C (p.Glu516Gln)
n.1980G>C
19g.54939357C>TCA407861933NLRP7c.1462G>A (p.Glu488Lys)
c.1546G>A (p.Glu516Lys)
n.1980G>A
19g.54939357_54939358delinsTTCA645620184NLRP7c.1461_1462delinsAA (p.Glu488Lys)
c.1545_1546delinsAA (p.Glu516Lys)
n.1979_1980delinsAA
 COSMIC COSMIC COSMIC
19g.54939361dupCA997220823NLRP7c.1462dup (p.Glu488GlyfsTer?)
c.1546dup (p.Glu516GlyfsTer?)
n.1980dup
 dbSNP gnomAD v3 gnomAD v4
19g.54939359_54939361delCA310017831NLRP7c.1460_1462del (p.Gly487del)
c.1544_1546del (p.Gly515del)
n.1978_1980del
 dbSNP gnomAD v3 gnomAD v4
19g.54939358C>ACA310017837NLRP7c.1461G>T (p.Gly487=)
c.1545G>T (p.Gly515=)
n.1979G>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939358C=CA2343150859NLRP7c.1461G= (p.Gly487=)
c.1545G= (p.Gly515=)
n.1979G=
19g.54939358C>GCA2587198348NLRP7c.1461G>C (p.Gly487=)
c.1545G>C (p.Gly515=)
n.1979G>C
 gnomAD v4
19g.54939358C>TCA230826NLRP7c.1461G>A (p.Gly487=)
c.1545G>A (p.Gly515=)
n.1979G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.54939358_54939359insTCA310017854NLRP7c.1460_1461insA (p.Glu488GlyfsTer?)
c.1544_1545insA (p.Glu516GlyfsTer?)
n.1978_1979insA
 dbSNP gnomAD v3 gnomAD v4
19g.54939359C>ACA407861934NLRP7c.1460G>T (p.Gly487Val)
c.1544G>T (p.Gly515Val)
n.1978G>T
19g.54939359C=CA2343150860NLRP7c.1460G= (p.Gly487=)
c.1544G= (p.Gly515=)
n.1978G=
19g.54939359C>GCA407861935NLRP7c.1460G>C (p.Gly487Ala)
c.1544G>C (p.Gly515Ala)
n.1978G>C
19g.54939359C>TCA310017855NLRP7c.1460G>A (p.Gly487Glu)
c.1544G>A (p.Gly515Glu)
n.1978G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.54939360C>ACA407861936NLRP7c.1459G>T (p.Gly487Trp)
c.1543G>T (p.Gly515Trp)
n.1977G>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939360C=CA2343150861NLRP7c.1459G= (p.Gly487=)
c.1543G= (p.Gly515=)
n.1977G=
19g.54939360C>GCA310017873NLRP7c.1459G>C (p.Gly487Arg)
c.1543G>C (p.Gly515Arg)
n.1977G>C
 dbSNP
19g.54939360C>TCA407861937NLRP7c.1459G>A (p.Gly487Arg)
c.1543G>A (p.Gly515Arg)
n.1977G>A
19g.54939360_54939361insTCCA310017857NLRP7c.1459_1460insAG (p.Gly487GlufsTer30)
c.1543_1544insAG (p.Gly515GlufsTer30)
n.1977_1978insAG
 dbSNP gnomAD v3 gnomAD v4
19g.54939361C>ACA407861938NLRP7c.1458G>T (p.Glu486Asp)
c.1542G>T (p.Glu514Asp)
n.1976G>T
 dbSNP
19g.54939361C=CA2343150862NLRP7c.1458G= (p.Glu486=)
c.1542G= (p.Glu514=)
n.1976G=
19g.54939361C>GCA310017874NLRP7c.1458G>C (p.Glu486Asp)
c.1542G>C (p.Glu514Asp)
n.1976G>C
 dbSNP gnomAD v3 gnomAD v4
19g.54939361C>TCA645620185NLRP7c.1458G>A (p.Glu486=)
c.1542G>A (p.Glu514=)
n.1976G>A
 COSMIC COSMIC COSMIC
19g.54939362T>ACA407861941NLRP7c.1457A>T (p.Glu486Val)
c.1541A>T (p.Glu514Val)
n.1975A>T
19g.54939362T>CCA407861940NLRP7c.1457A>G (p.Glu486Gly)
c.1541A>G (p.Glu514Gly)
n.1975A>G
19g.54939362T>GCA407861939NLRP7c.1457A>C (p.Glu486Ala)
c.1541A>C (p.Glu514Ala)
n.1975A>C
19g.54939362T=CA2343150863NLRP7c.1457A= (p.Glu486=)
c.1541A= (p.Glu514=)
n.1975A=
19g.54939363C>ACA407861942NLRP7c.1456G>T (p.Glu486Ter)
c.1540G>T (p.Glu514Ter)
n.1974G>T
19g.54939363C>GCA407861943NLRP7c.1456G>C (p.Glu486Gln)
c.1540G>C (p.Glu514Gln)
n.1974G>C
19g.54939363C>TCA407861944NLRP7c.1456G>A (p.Glu486Lys)
c.1540G>A (p.Glu514Lys)
n.1974G>A
19g.54939364dupCA149957NLRP7c.1456dup (p.Glu486GlyfsTer?)
c.1540dup (p.Glu514GlyfsTer?)
n.1974dup
 ClinVar dbSNP gnomAD v4
19g.54939364C>ACA407861945NLRP7c.1455G>T (p.Glu485Asp)
c.1539G>T (p.Glu513Asp)
n.1973G>T
 COSMIC COSMIC COSMIC
19g.54939364C=CA2343150864NLRP7c.1455G= (p.Glu485=)
c.1539G= (p.Glu513=)
n.1973G=
19g.54939364C>GCA407861946NLRP7c.1455G>C (p.Glu485Asp)
c.1539G>C (p.Glu513Asp)
n.1973G>C
 COSMIC COSMIC
19g.54939364C>TCA883692271NLRP7c.1455G>A (p.Glu485=)
c.1539G>A (p.Glu513=)
n.1973G>A
 dbSNP gnomAD v3 gnomAD v4
19g.54939365T>ACA407861947NLRP7c.1454A>T (p.Glu485Val)
c.1538A>T (p.Glu513Val)
n.1972A>T
19g.54939365T>CCA407861948NLRP7c.1454A>G (p.Glu485Gly)
c.1538A>G (p.Glu513Gly)
n.1972A>G
19g.54939365T>GCA407861949NLRP7c.1454A>C (p.Glu485Ala)
c.1538A>C (p.Glu513Ala)
n.1972A>C
19g.54939366C>ACA407861950NLRP7c.1453G>T (p.Glu485Ter)
c.1537G>T (p.Glu513Ter)
n.1971G>T
19g.54939366C>GCA407861951NLRP7c.1453G>C (p.Glu485Gln)
c.1537G>C (p.Glu513Gln)
n.1971G>C
 gnomAD v4
19g.54939366C>TCA407861952NLRP7c.1453G>A (p.Glu485Lys)
c.1537G>A (p.Glu513Lys)
n.1971G>A
 gnomAD v4
19g.54939366_54939369delinsCCTTCA2343150865NLRP7c.1450_1453delinsAAGG (p.Lys484=)
c.1534_1537delinsAAGG (p.Lys512=)
n.1968_1971delinsAAGG
19g.54939367C>ACA407861954NLRP7c.1452G>T (p.Lys484Asn)
c.1536G>T (p.Lys512Asn)
n.1970G>T
19g.54939367C=CA2343150867NLRP7c.1452G= (p.Lys484=)
c.1536G= (p.Lys512=)
n.1970G=
19g.54939367C>GCA407861953NLRP7c.1452G>C (p.Lys484Asn)
c.1536G>C (p.Lys512Asn)
n.1970G>C
19g.54939367C>TCA883692278NLRP7c.1452G>A (p.Lys484=)
c.1536G>A (p.Lys512=)
n.1970G>A
 dbSNP gnomAD v4
19g.54939369_54939371delCA2343150866NLRP7c.1450_1452del (p.Lys484del)
c.1534_1536del (p.Lys512del)
n.1968_1970del
 dbSNP
19g.54939368T>ACA407861955NLRP7c.1451A>T (p.Lys484Met)
c.1535A>T (p.Lys512Met)
n.1969A>T
 gnomAD v3 gnomAD v4
19g.54939368T>CCA407861956NLRP7c.1451A>G (p.Lys484Arg)
c.1535A>G (p.Lys512Arg)
n.1969A>G
 gnomAD v4
19g.54939368T>GCA407861957NLRP7c.1451A>C (p.Lys484Thr)
c.1535A>C (p.Lys512Thr)
n.1969A>C
19g.54939369T>ACA407861958NLRP7c.1450A>T (p.Lys484Ter)
c.1534A>T (p.Lys512Ter)
n.1968A>T
19g.54939369T>CCA407861959NLRP7c.1450A>G (p.Lys484Glu)
c.1534A>G (p.Lys512Glu)
n.1968A>G
 dbSNP gnomAD v4
19g.54939369T>GCA407861960NLRP7c.1450A>C (p.Lys484Gln)
c.1534A>C (p.Lys512Gln)
n.1968A>C
19g.54939369T=CA2343150868NLRP7c.1450A= (p.Lys484=)
c.1534A= (p.Lys512=)
n.1968A=
19g.54939370C>ACA407861962NLRP7c.1449G>T (p.Glu483Asp)
c.1533G>T (p.Glu511Asp)
n.1967G>T
19g.54939370C>GCA407861961NLRP7c.1449G>C (p.Glu483Asp)
c.1533G>C (p.Glu511Asp)
n.1967G>C
19g.54939370C>TCA2587198349NLRP7c.1449G>A (p.Glu483=)
c.1533G>A (p.Glu511=)
n.1967G>A
 gnomAD v4
19g.54939371T>ACA407861963NLRP7c.1448A>T (p.Glu483Val)
c.1532A>T (p.Glu511Val)
n.1966A>T
19g.54939371T>CCA407861964NLRP7c.1448A>G (p.Glu483Gly)
c.1532A>G (p.Glu511Gly)
n.1966A>G
19g.54939371T>GCA407861965NLRP7c.1448A>C (p.Glu483Ala)
c.1532A>C (p.Glu511Ala)
n.1966A>C
19g.54939372C>ACA407861966NLRP7c.1447G>T (p.Glu483Ter)
c.1531G>T (p.Glu511Ter)
n.1965G>T
 COSMIC COSMIC COSMIC
19g.54939372C>GCA407861967NLRP7c.1447G>C (p.Glu483Gln)
c.1531G>C (p.Glu511Gln)
n.1965G>C
 gnomAD v3 gnomAD v4
19g.54939372C>TCA407861968NLRP7c.1447G>A (p.Glu483Lys)
c.1531G>A (p.Glu511Lys)
n.1965G>A
19g.54939373C>TCA645620186NLRP7c.1446G>A (p.Leu482=)
c.1530G>A (p.Leu510=)
n.1964G>A
 gnomAD v4 COSMIC COSMIC COSMIC
19g.54939374A=CA2343150869NLRP7c.1445T= (p.Leu482=)
c.1529T= (p.Leu510=)
n.1963T=
19g.54939374A>CCA407861969NLRP7c.1445T>G (p.Leu482Arg)
c.1529T>G (p.Leu510Arg)
n.1963T>G
19g.54939374A>GCA407861971NLRP7c.1445T>C (p.Leu482Pro)
c.1529T>C (p.Leu510Pro)
n.1963T>C
 dbSNP gnomAD v4
19g.54939374A>TCA407861970NLRP7c.1445T>A (p.Leu482Gln)
c.1529T>A (p.Leu510Gln)
n.1963T>A
 gnomAD v4
19g.54939375G>CCA407861972NLRP7c.1444C>G (p.Leu482Val)
c.1528C>G (p.Leu510Val)
n.1962C>G
19g.54939375G>TCA407861973NLRP7c.1444C>A (p.Leu482Met)
c.1528C>A (p.Leu510Met)
n.1962C>A
19g.54939376G>ACA310017890NLRP7c.1443C>T (p.Ala481=)
c.1527C>T (p.Ala509=)
n.1961C>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939376G=CA2343150870NLRP7c.1443C= (p.Ala481=)
c.1527C= (p.Ala509=)
n.1961C=
19g.54939377G>ACA310017891NLRP7c.1442C>T (p.Ala481Val)
c.1526C>T (p.Ala509Val)
n.1960C>T
 dbSNP gnomAD v4
19g.54939377G>CCA407861974NLRP7c.1442C>G (p.Ala481Gly)
c.1526C>G (p.Ala509Gly)
n.1960C>G
 COSMIC COSMIC COSMIC
19g.54939377G=CA2343150871NLRP7c.1442C= (p.Ala481=)
c.1526C= (p.Ala509=)
n.1960C=
19g.54939377G>TCA407861975NLRP7c.1442C>A (p.Ala481Asp)
c.1526C>A (p.Ala509Asp)
n.1960C>A
19g.54939378C>ACA310017894NLRP7c.1441G>T (p.Ala481Ser)
c.1525G>T (p.Ala509Ser)
n.1959G>T
 dbSNP gnomAD v4
19g.54939378C=CA2343150872NLRP7c.1441G= (p.Ala481=)
c.1525G= (p.Ala509=)
n.1959G=
19g.54939378C>GCA407861976NLRP7c.1441G>C (p.Ala481Pro)
c.1525G>C (p.Ala509Pro)
n.1959G>C
19g.54939378C>TCA310017896NLRP7c.1441G>A (p.Ala481Thr)
c.1525G>A (p.Ala509Thr)
n.1959G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.54939379G>ACA310017900NLRP7c.1440C>T (p.Tyr480=)
c.1524C>T (p.Tyr508=)
n.1958C>T
 dbSNP gnomAD v3 gnomAD v4
19g.54939379G>CCA407861977NLRP7c.1440C>G (p.Tyr480Ter)
c.1524C>G (p.Tyr508Ter)
n.1958C>G
19g.54939379G=CA2343150873NLRP7c.1440C= (p.Tyr480=)
c.1524C= (p.Tyr508=)
n.1958C=
19g.54939379G>TCA310017904NLRP7c.1440C>A (p.Tyr480Ter)
c.1524C>A (p.Tyr508Ter)
n.1958C>A
 dbSNP gnomAD v3 gnomAD v4
19g.54939380T>ACA407861979NLRP7c.1439A>T (p.Tyr480Phe)
c.1523A>T (p.Tyr508Phe)
n.1957A>T
19g.54939380T>CCA310017918NLRP7c.1439A>G (p.Tyr480Cys)
c.1523A>G (p.Tyr508Cys)
n.1957A>G
 dbSNP gnomAD v3 gnomAD v4
19g.54939380T>GCA407861978NLRP7c.1439A>C (p.Tyr480Ser)
c.1523A>C (p.Tyr508Ser)
n.1957A>C
19g.54939380T=CA2343150874NLRP7c.1439A= (p.Tyr480=)
c.1523A= (p.Tyr508=)
n.1957A=

Number of alleles fetched