Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424996A>C | CA345557142 | NLRP3 | c.1547A>C (p.Tyr516Ser) c.1412A>C (p.Tyr471Ser) c.1553A>C (p.Tyr518Ser) n.1728A>C | |
1 | g.247424996A>G | CA345557140 | NLRP3 | c.1547A>G (p.Tyr516Cys) c.1412A>G (p.Tyr471Cys) c.1553A>G (p.Tyr518Cys) n.1728A>G | |
1 | g.247424996A>T | CA345557141 | NLRP3 | c.1547A>T (p.Tyr516Phe) c.1412A>T (p.Tyr471Phe) c.1553A>T (p.Tyr518Phe) n.1728A>T | |
1 | g.247424997C>A | CA345557143 | NLRP3 | c.1548C>A (p.Tyr516Ter) c.1413C>A (p.Tyr471Ter) c.1554C>A (p.Tyr518Ter) n.1729C>A | gnomAD v4 |
1 | g.247424997C= | CA1232098588 | NLRP3 | c.1548C= (p.Tyr516=) c.1413C= (p.Tyr471=) c.1554C= (p.Tyr518=) n.1729C= | |
1 | g.247424997C>G | CA345557144 | NLRP3 | c.1548C>G (p.Tyr516Ter) c.1413C>G (p.Tyr471Ter) c.1554C>G (p.Tyr518Ter) n.1729C>G | |
1 | g.247424997C>T | CA424582091 | NLRP3 | c.1548C>T (p.Tyr516=) c.1413C>T (p.Tyr471=) c.1554C>T (p.Tyr518=) n.1729C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424998A>C | CA345557145 | NLRP3 | c.1549A>C (p.Ser517Arg) c.1414A>C (p.Ser472Arg) c.1555A>C (p.Ser519Arg) n.1730A>C | |
1 | g.247424998A>G | CA345557146 | NLRP3 | c.1549A>G (p.Ser517Gly) c.1414A>G (p.Ser472Gly) c.1555A>G (p.Ser519Gly) n.1730A>G | gnomAD v4 |
1 | g.247424998A>T | CA345557147 | NLRP3 | c.1549A>T (p.Ser517Cys) c.1414A>T (p.Ser472Cys) c.1555A>T (p.Ser519Cys) n.1730A>T | |
1 | g.247424999G>A | CA345557148 | NLRP3 | c.1550G>A (p.Ser517Asn) c.1415G>A (p.Ser472Asn) c.1556G>A (p.Ser519Asn) n.1731G>A | COSMIC |
1 | g.247424999G>C | CA345557149 | NLRP3 | c.1550G>C (p.Ser517Thr) c.1415G>C (p.Ser472Thr) c.1556G>C (p.Ser519Thr) n.1731G>C | |
1 | g.247424999G>T | CA345557150 | NLRP3 | c.1550G>T (p.Ser517Ile) c.1415G>T (p.Ser472Ile) c.1556G>T (p.Ser519Ile) n.1731G>T | |
1 | g.247425000C>A | CA345557151 | NLRP3 | c.1551C>A (p.Ser517Arg) c.1416C>A (p.Ser472Arg) c.1557C>A (p.Ser519Arg) n.1732C>A | |
1 | g.247425000C= | CA1232098592 | NLRP3 | c.1551C= (p.Ser517=) c.1416C= (p.Ser472=) c.1557C= (p.Ser519=) n.1732C= | |
1 | g.247425000C>G | CA345557152 | NLRP3 | c.1551C>G (p.Ser517Arg) c.1416C>G (p.Ser472Arg) c.1557C>G (p.Ser519Arg) n.1732C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247425000C>T | CA424582102 | NLRP3 | c.1551C>T (p.Ser517=) c.1416C>T (p.Ser472=) c.1557C>T (p.Ser519=) n.1732C>T | |
1 | g.247425001T>A | CA345557155 | NLRP3 | c.1552T>A (p.Phe518Ile) c.1417T>A (p.Phe473Ile) c.1558T>A (p.Phe520Ile) n.1733T>A | |
1 | g.247425001T>C | CA345557154 | NLRP3 | c.1552T>C (p.Phe518Leu) c.1417T>C (p.Phe473Leu) c.1558T>C (p.Phe520Leu) n.1733T>C | ClinVar dbSNP |
1 | g.247425001T>G | CA345557153 | NLRP3 | c.1552T>G (p.Phe518Val) c.1417T>G (p.Phe473Val) c.1558T>G (p.Phe520Val) n.1733T>G | |
1 | g.247425002T>A | CA345557156 | NLRP3 | c.1553T>A (p.Phe518Tyr) c.1418T>A (p.Phe473Tyr) c.1559T>A (p.Phe520Tyr) n.1734T>A | |
1 | g.247425002T>C | CA345557157 | NLRP3 | c.1553T>C (p.Phe518Ser) c.1418T>C (p.Phe473Ser) c.1559T>C (p.Phe520Ser) n.1734T>C | |
1 | g.247425002T>G | CA345557158 | NLRP3 | c.1553T>G (p.Phe518Cys) c.1418T>G (p.Phe473Cys) c.1559T>G (p.Phe520Cys) n.1734T>G | |
1 | g.247425003C>A | CA345557159 | NLRP3 | c.1554C>A (p.Phe518Leu) c.1419C>A (p.Phe473Leu) c.1560C>A (p.Phe520Leu) n.1735C>A | |
1 | g.247425003C>G | CA345557160 | NLRP3 | c.1554C>G (p.Phe518Leu) c.1419C>G (p.Phe473Leu) c.1560C>G (p.Phe520Leu) n.1735C>G | |
1 | g.247425003C>T | CA424582110 | NLRP3 | c.1554C>T (p.Phe518=) c.1419C>T (p.Phe473=) c.1560C>T (p.Phe520=) n.1735C>T | ClinVar dbSNP |
1 | g.247425004A>C | CA345557161 | NLRP3 | c.1555A>C (p.Ile519Leu) c.1420A>C (p.Ile474Leu) c.1561A>C (p.Ile521Leu) n.1736A>C | |
1 | g.247425004A>G | CA345557162 | NLRP3 | c.1555A>G (p.Ile519Val) c.1420A>G (p.Ile474Val) c.1561A>G (p.Ile521Val) n.1736A>G | |
1 | g.247425004A>T | CA345557163 | NLRP3 | c.1555A>T (p.Ile519Phe) c.1420A>T (p.Ile474Phe) c.1561A>T (p.Ile521Phe) n.1736A>T | |
1 | g.247425005T>A | CA345557164 | NLRP3 | c.1556T>A (p.Ile519Asn) c.1421T>A (p.Ile474Asn) c.1562T>A (p.Ile521Asn) n.1737T>A | COSMIC |
1 | g.247425005T>C | CA345557165 | NLRP3 | c.1556T>C (p.Ile519Thr) c.1421T>C (p.Ile474Thr) c.1562T>C (p.Ile521Thr) n.1737T>C | |
1 | g.247425005T>G | CA345557166 | NLRP3 | c.1556T>G (p.Ile519Ser) c.1421T>G (p.Ile474Ser) c.1562T>G (p.Ile521Ser) n.1737T>G | |
1 | g.247425006C>A | CA424582115 | NLRP3 | c.1557C>A (p.Ile519=) c.1422C>A (p.Ile474=) c.1563C>A (p.Ile521=) n.1738C>A | |
1 | g.247425006C= | CA1232098596 | NLRP3 | c.1557C= (p.Ile519=) c.1422C= (p.Ile474=) c.1563C= (p.Ile521=) n.1738C= | |
1 | g.247425006C>G | CA345557167 | NLRP3 | c.1557C>G (p.Ile519Met) c.1422C>G (p.Ile474Met) c.1563C>G (p.Ile521Met) n.1738C>G | dbSNP |
1 | g.247425006C>T | CA424582116 | NLRP3 | c.1557C>T (p.Ile519=) c.1422C>T (p.Ile474=) c.1563C>T (p.Ile521=) n.1738C>T | COSMIC |
1 | g.247425007C>A | CA345557170 | NLRP3 | c.1558C>A (p.His520Asn) c.1423C>A (p.His475Asn) c.1564C>A (p.His522Asn) n.1739C>A | COSMIC |
1 | g.247425007C>G | CA345557168 | NLRP3 | c.1558C>G (p.His520Asp) c.1423C>G (p.His475Asp) c.1564C>G (p.His522Asp) n.1739C>G | |
1 | g.247425007C>T | CA345557169 | NLRP3 | c.1558C>T (p.His520Tyr) c.1423C>T (p.His475Tyr) c.1564C>T (p.His522Tyr) n.1739C>T | |
1 | g.247425008A>C | CA345557171 | NLRP3 | c.1559A>C (p.His520Pro) c.1424A>C (p.His475Pro) c.1565A>C (p.His522Pro) n.1740A>C | |
1 | g.247425008A>G | CA345557172 | NLRP3 | c.1559A>G (p.His520Arg) c.1424A>G (p.His475Arg) c.1565A>G (p.His522Arg) n.1740A>G | |
1 | g.247425008A>T | CA345557173 | NLRP3 | c.1559A>T (p.His520Leu) c.1424A>T (p.His475Leu) c.1565A>T (p.His522Leu) n.1740A>T | |
1 | g.247425009C>A | CA345557174 | NLRP3 | c.1560C>A (p.His520Gln) c.1425C>A (p.His475Gln) c.1566C>A (p.His522Gln) n.1741C>A | |
1 | g.247425009C= | CA1232098599 | NLRP3 | c.1560C= (p.His520=) c.1425C= (p.His475=) c.1566C= (p.His522=) n.1741C= | |
1 | g.247425009C>G | CA345557175 | NLRP3 | c.1560C>G (p.His520Gln) c.1425C>G (p.His475Gln) c.1566C>G (p.His522Gln) n.1741C>G | |
1 | g.247425009C>T | CA40691876 | NLRP3 | c.1560C>T (p.His520=) c.1425C>T (p.His475=) c.1566C>T (p.His522=) n.1741C>T | dbSNP |
1 | g.247425010A>C | CA345557176 | NLRP3 | c.1561A>C (p.Met521Leu) c.1426A>C (p.Met476Leu) c.1567A>C (p.Met523Leu) n.1742A>C | gnomAD v4 |
1 | g.247425010A>G | CA345557177 | NLRP3 | c.1561A>G (p.Met521Val) c.1426A>G (p.Met476Val) c.1567A>G (p.Met523Val) n.1742A>G | |
1 | g.247425010A>T | CA345557178 | NLRP3 | c.1561A>T (p.Met521Leu) c.1426A>T (p.Met476Leu) c.1567A>T (p.Met523Leu) n.1742A>T | |
1 | g.247425011T>A | CA345557179 | NLRP3 | c.1562T>A (p.Met521Lys) c.1427T>A (p.Met476Lys) c.1568T>A (p.Met523Lys) n.1743T>A | ClinVar dbSNP |