Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424895T>A | CA345556902 | NLRP3 | c.1446T>A (p.Phe482Leu) c.1311T>A (p.Phe437Leu) c.1452T>A (p.Phe484Leu) n.1627T>A | |
1 | g.247424895T>C | CA424581172 | NLRP3 | c.1446T>C (p.Phe482=) c.1311T>C (p.Phe437=) c.1452T>C (p.Phe484=) n.1627T>C | |
1 | g.247424895T>G | CA345556903 | NLRP3 | c.1446T>G (p.Phe482Leu) c.1311T>G (p.Phe437Leu) c.1452T>G (p.Phe484Leu) n.1627T>G | |
1 | g.247424896G>A | CA345556906 | NLRP3 | c.1447G>A (p.Glu483Lys) c.1312G>A (p.Glu438Lys) c.1453G>A (p.Glu485Lys) n.1628G>A | gnomAD v4 |
1 | g.247424896G>C | CA345556904 | NLRP3 | c.1447G>C (p.Glu483Gln) c.1312G>C (p.Glu438Gln) c.1453G>C (p.Glu485Gln) n.1628G>C | |
1 | g.247424896G>T | CA345556905 | NLRP3 | c.1447G>T (p.Glu483Ter) c.1312G>T (p.Glu438Ter) c.1453G>T (p.Glu485Ter) n.1628G>T | |
1 | g.247424897A>C | CA345556907 | NLRP3 | c.1448A>C (p.Glu483Ala) c.1313A>C (p.Glu438Ala) c.1454A>C (p.Glu485Ala) n.1629A>C | |
1 | g.247424897A>G | CA345556908 | NLRP3 | c.1448A>G (p.Glu483Gly) c.1313A>G (p.Glu438Gly) c.1454A>G (p.Glu485Gly) n.1629A>G | |
1 | g.247424897A>T | CA345556909 | NLRP3 | c.1448A>T (p.Glu483Val) c.1313A>T (p.Glu438Val) c.1454A>T (p.Glu485Val) n.1629A>T | |
1 | g.247424898G>A | CA1495031 | NLRP3 | c.1449G>A (p.Glu483=) c.1314G>A (p.Glu438=) c.1455G>A (p.Glu485=) n.1630G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.247424898G>C | CA345556910 | NLRP3 | c.1449G>C (p.Glu483Asp) c.1314G>C (p.Glu438Asp) c.1455G>C (p.Glu485Asp) n.1630G>C | gnomAD v4 |
1 | g.247424898G= | CA1149129894 | NLRP3 | c.1449G= (p.Glu483=) c.1314G= (p.Glu438=) c.1455G= (p.Glu485=) n.1630G= | |
1 | g.247424898G>T | CA345556911 | NLRP3 | c.1449G>T (p.Glu483Asp) c.1314G>T (p.Glu438Asp) c.1455G>T (p.Glu485Asp) n.1630G>T | |
1 | g.247424899G>A | CA345556914 | NLRP3 | c.1450G>A (p.Glu484Lys) c.1315G>A (p.Glu439Lys) c.1456G>A (p.Glu486Lys) n.1631G>A | gnomAD v4 |
1 | g.247424899G>C | CA345556912 | NLRP3 | c.1450G>C (p.Glu484Gln) c.1315G>C (p.Glu439Gln) c.1456G>C (p.Glu486Gln) n.1631G>C | |
1 | g.247424899G= | CA1232098472 | NLRP3 | c.1450G= (p.Glu484=) c.1315G= (p.Glu439=) c.1456G= (p.Glu486=) n.1631G= | |
1 | g.247424899G>T | CA345556913 | NLRP3 | c.1450G>T (p.Glu484Ter) c.1315G>T (p.Glu439Ter) c.1456G>T (p.Glu486Ter) n.1631G>T | dbSNP gnomAD v4 |
1 | g.247424900A>C | CA345556915 | NLRP3 | c.1451A>C (p.Glu484Ala) c.1316A>C (p.Glu439Ala) c.1457A>C (p.Glu486Ala) n.1632A>C | |
1 | g.247424900A>G | CA345556916 | NLRP3 | c.1451A>G (p.Glu484Gly) c.1316A>G (p.Glu439Gly) c.1457A>G (p.Glu486Gly) n.1632A>G | |
1 | g.247424900A>T | CA345556917 | NLRP3 | c.1451A>T (p.Glu484Val) c.1316A>T (p.Glu439Val) c.1457A>T (p.Glu486Val) n.1632A>T | |
1 | g.247424901G>A | CA424581777 | NLRP3 | c.1452G>A (p.Glu484=) c.1317G>A (p.Glu439=) c.1458G>A (p.Glu486=) n.1633G>A | |
1 | g.247424901G>C | CA345556918 | NLRP3 | c.1452G>C (p.Glu484Asp) c.1317G>C (p.Glu439Asp) c.1458G>C (p.Glu486Asp) n.1633G>C | |
1 | g.247424901G>T | CA345556919 | NLRP3 | c.1452G>T (p.Glu484Asp) c.1317G>T (p.Glu439Asp) c.1458G>T (p.Glu486Asp) n.1633G>T | |
1 | g.247424902T>A | CA345556922 | NLRP3 | c.1453T>A (p.Ser485Thr) c.1318T>A (p.Ser440Thr) c.1459T>A (p.Ser487Thr) n.1634T>A | |
1 | g.247424902T>C | CA345556920 | NLRP3 | c.1453T>C (p.Ser485Pro) c.1318T>C (p.Ser440Pro) c.1459T>C (p.Ser487Pro) n.1634T>C | |
1 | g.247424902T>G | CA345556921 | NLRP3 | c.1453T>G (p.Ser485Ala) c.1318T>G (p.Ser440Ala) c.1459T>G (p.Ser487Ala) n.1634T>G | |
1 | g.247424903C>A | CA345556923 | NLRP3 | c.1454C>A (p.Ser485Tyr) c.1319C>A (p.Ser440Tyr) c.1460C>A (p.Ser487Tyr) n.1635C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424903C= | CA1232098476 | NLRP3 | c.1454C= (p.Ser485=) c.1319C= (p.Ser440=) c.1460C= (p.Ser487=) n.1635C= | |
1 | g.247424903C>G | CA345556924 | NLRP3 | c.1454C>G (p.Ser485Cys) c.1319C>G (p.Ser440Cys) c.1460C>G (p.Ser487Cys) n.1635C>G | |
1 | g.247424903C>T | CA345556925 | NLRP3 | c.1454C>T (p.Ser485Phe) c.1319C>T (p.Ser440Phe) c.1460C>T (p.Ser487Phe) n.1635C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424904C>A | CA424581789 | NLRP3 | c.1455C>A (p.Ser485=) c.1320C>A (p.Ser440=) c.1461C>A (p.Ser487=) n.1636C>A | |
1 | g.247424904C= | CA1143697594 | NLRP3 | c.1455C= (p.Ser485=) c.1320C= (p.Ser440=) c.1461C= (p.Ser487=) n.1636C= | |
1 | g.247424904C>G | CA424581792 | NLRP3 | c.1455C>G (p.Ser485=) c.1320C>G (p.Ser440=) c.1461C>G (p.Ser487=) n.1636C>G | |
1 | g.247424904C>T | CA1495032 | NLRP3 | c.1455C>T (p.Ser485=) c.1320C>T (p.Ser440=) c.1461C>T (p.Ser487=) n.1636C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424905G>A | CA345556926 | NLRP3 | c.1456G>A (p.Asp486Asn) c.1321G>A (p.Asp441Asn) c.1462G>A (p.Asp488Asn) n.1637G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424905G>C | CA345556927 | NLRP3 | c.1456G>C (p.Asp486His) c.1321G>C (p.Asp441His) c.1462G>C (p.Asp488His) n.1637G>C | |
1 | g.247424905G= | CA1232098481 | NLRP3 | c.1456G= (p.Asp486=) c.1321G= (p.Asp441=) c.1462G= (p.Asp488=) n.1637G= | |
1 | g.247424905G>T | CA345556928 | NLRP3 | c.1456G>T (p.Asp486Tyr) c.1321G>T (p.Asp441Tyr) c.1462G>T (p.Asp488Tyr) n.1637G>T | COSMIC |
1 | g.247424906A>C | CA345556929 | NLRP3 | c.1457A>C (p.Asp486Ala) c.1322A>C (p.Asp441Ala) c.1463A>C (p.Asp488Ala) n.1638A>C | |
1 | g.247424906A>G | CA345556930 | NLRP3 | c.1457A>G (p.Asp486Gly) c.1322A>G (p.Asp441Gly) c.1463A>G (p.Asp488Gly) n.1638A>G | |
1 | g.247424906A>T | CA345556931 | NLRP3 | c.1457A>T (p.Asp486Val) c.1322A>T (p.Asp441Val) c.1463A>T (p.Asp488Val) n.1638A>T | |
1 | g.247424907C>A | CA345556932 | NLRP3 | c.1458C>A (p.Asp486Glu) c.1323C>A (p.Asp441Glu) c.1464C>A (p.Asp488Glu) n.1639C>A | |
1 | g.247424907C>G | CA345556933 | NLRP3 | c.1458C>G (p.Asp486Glu) c.1323C>G (p.Asp441Glu) c.1464C>G (p.Asp488Glu) n.1639C>G | |
1 | g.247424907C>T | CA424581803 | NLRP3 | c.1458C>T (p.Asp486=) c.1323C>T (p.Asp441=) c.1464C>T (p.Asp488=) n.1639C>T | |
1 | g.247424908C>A | CA345556934 | NLRP3 | c.1459C>A (p.Leu487Ile) c.1324C>A (p.Leu442Ile) c.1465C>A (p.Leu489Ile) n.1640C>A | |
1 | g.247424908C>G | CA345556936 | NLRP3 | c.1459C>G (p.Leu487Val) c.1324C>G (p.Leu442Val) c.1465C>G (p.Leu489Val) n.1640C>G | |
1 | g.247424908C>T | CA345556935 | NLRP3 | c.1459C>T (p.Leu487Phe) c.1324C>T (p.Leu442Phe) c.1465C>T (p.Leu489Phe) n.1640C>T | |
1 | g.247424909T>A | CA345556937 | NLRP3 | c.1460T>A (p.Leu487His) c.1325T>A (p.Leu442His) c.1466T>A (p.Leu489His) n.1641T>A | |
1 | g.247424909T>C | CA345556939 | NLRP3 | c.1460T>C (p.Leu487Pro) c.1325T>C (p.Leu442Pro) c.1466T>C (p.Leu489Pro) n.1641T>C | |
1 | g.247424909T>G | CA345556938 | NLRP3 | c.1460T>G (p.Leu487Arg) c.1325T>G (p.Leu442Arg) c.1466T>G (p.Leu489Arg) n.1641T>G |