| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247424662A= | CA1142421400 | NLRP3 | c.1213A= (p.Thr405=) c.1078A= (p.Thr360=) c.1219A= (p.Thr407=) n.1394A= | |
| 1 | g.247424662A>C | CA281145 | NLRP3 | c.1213A>C (p.Thr405Pro) c.1078A>C (p.Thr360Pro) c.1219A>C (p.Thr407Pro) n.1394A>C | ClinVar dbSNP |
| 1 | g.247424662A>G | CA345556404 | NLRP3 | c.1213A>G (p.Thr405Ala) c.1078A>G (p.Thr360Ala) c.1219A>G (p.Thr407Ala) n.1394A>G | |
| 1 | g.247424662A>T | CA345556405 | NLRP3 | c.1213A>T (p.Thr405Ser) c.1078A>T (p.Thr360Ser) c.1219A>T (p.Thr407Ser) n.1394A>T | |
| 1 | g.247424663C>A | CA345556406 | NLRP3 | c.1214C>A (p.Thr405Asn) c.1079C>A (p.Thr360Asn) c.1220C>A (p.Thr407Asn) n.1395C>A | |
| 1 | g.247424663C= | CA1232098100 | NLRP3 | c.1214C= (p.Thr405=) c.1079C= (p.Thr360=) c.1220C= (p.Thr407=) n.1395C= | |
| 1 | g.247424663C>G | CA345556407 | NLRP3 | c.1214C>G (p.Thr405Ser) c.1079C>G (p.Thr360Ser) c.1220C>G (p.Thr407Ser) n.1395C>G | |
| 1 | g.247424663C>T | CA345556408 | NLRP3 | c.1214C>T (p.Thr405Ile) c.1079C>T (p.Thr360Ile) c.1220C>T (p.Thr407Ile) n.1395C>T | dbSNP gnomAD v4 |
| 1 | g.247424664C>A | CA1494997 | NLRP3 | c.1215C>A (p.Thr405=) c.1080C>A (p.Thr360=) c.1221C>A (p.Thr407=) n.1396C>A | dbSNP ExAC COSMIC |
| 1 | g.247424664C= | CA1148882218 | NLRP3 | c.1215C= (p.Thr405=) c.1080C= (p.Thr360=) c.1221C= (p.Thr407=) n.1396C= | |
| 1 | g.247424664C>G | CA424582691 | NLRP3 | c.1215C>G (p.Thr405=) c.1080C>G (p.Thr360=) c.1221C>G (p.Thr407=) n.1396C>G | |
| 1 | g.247424664C>T | CA424582692 | NLRP3 | c.1215C>T (p.Thr405=) c.1080C>T (p.Thr360=) c.1221C>T (p.Thr407=) n.1396C>T | |
| 1 | g.247424665A= | CA1232098108 | NLRP3 | c.1216A= (p.Met406=) c.1081A= (p.Met361=) c.1222A= (p.Met408=) n.1397A= | |
| 1 | g.247424665A>C | CA345556409 | NLRP3 | c.1216A>C (p.Met406Leu) c.1081A>C (p.Met361Leu) c.1222A>C (p.Met408Leu) n.1397A>C | |
| 1 | g.247424665A>G | CA345556410 | NLRP3 | c.1216A>G (p.Met406Val) c.1081A>G (p.Met361Val) c.1222A>G (p.Met408Val) n.1397A>G | |
| 1 | g.247424665A>T | CA1494998 | NLRP3 | c.1216A>T (p.Met406Leu) c.1081A>T (p.Met361Leu) c.1222A>T (p.Met408Leu) n.1397A>T | dbSNP ExAC |
| 1 | g.247424666T>A | CA345556411 | NLRP3 | c.1217T>A (p.Met406Lys) c.1082T>A (p.Met361Lys) c.1223T>A (p.Met408Lys) n.1398T>A | |
| 1 | g.247424666T>C | CA345556412 | NLRP3 | c.1217T>C (p.Met406Thr) c.1082T>C (p.Met361Thr) c.1223T>C (p.Met408Thr) n.1398T>C | ClinVar dbSNP |
| 1 | g.247424666T>G | CA345556413 | NLRP3 | c.1217T>G (p.Met406Arg) c.1082T>G (p.Met361Arg) c.1223T>G (p.Met408Arg) n.1398T>G | |
| 1 | g.247424666T= | CA1232098114 | NLRP3 | c.1217T= (p.Met406=) c.1082T= (p.Met361=) c.1223T= (p.Met408=) n.1398T= | |
| 1 | g.247424667G>A | CA345556415 | NLRP3 | c.1218G>A (p.Met406Ile) c.1083G>A (p.Met361Ile) c.1224G>A (p.Met408Ile) n.1399G>A | ClinVar dbSNP |
| 1 | g.247424667G>C | CA281149 | NLRP3 | c.1218G>C (p.Met406Ile) c.1083G>C (p.Met361Ile) c.1224G>C (p.Met408Ile) n.1399G>C | ClinVar dbSNP COSMIC |
| 1 | g.247424667G= | CA1142421401 | NLRP3 | c.1218G= (p.Met406=) c.1083G= (p.Met361=) c.1224G= (p.Met408=) n.1399G= | |
| 1 | g.247424667G>T | CA345556414 | NLRP3 | c.1218G>T (p.Met406Ile) c.1083G>T (p.Met361Ile) c.1224G>T (p.Met408Ile) n.1399G>T | |
| 1 | g.247424668T>A | CA345556416 | NLRP3 | c.1219T>A (p.Cys407Ser) c.1084T>A (p.Cys362Ser) c.1225T>A (p.Cys409Ser) n.1400T>A | |
| 1 | g.247424668T>C | CA345556417 | NLRP3 | c.1219T>C (p.Cys407Arg) c.1084T>C (p.Cys362Arg) c.1225T>C (p.Cys409Arg) n.1400T>C | |
| 1 | g.247424668T>G | CA345556418 | NLRP3 | c.1219T>G (p.Cys407Gly) c.1084T>G (p.Cys362Gly) c.1225T>G (p.Cys409Gly) n.1400T>G | |
| 1 | g.247424669G>A | CA345556419 | NLRP3 | c.1220G>A (p.Cys407Tyr) c.1085G>A (p.Cys362Tyr) c.1226G>A (p.Cys409Tyr) n.1401G>A | |
| 1 | g.247424669G>C | CA345556420 | NLRP3 | c.1220G>C (p.Cys407Ser) c.1085G>C (p.Cys362Ser) c.1226G>C (p.Cys409Ser) n.1401G>C | |
| 1 | g.247424669G= | CA1232098127 | NLRP3 | c.1220G= (p.Cys407=) c.1085G= (p.Cys362=) c.1226G= (p.Cys409=) n.1401G= | |
| 1 | g.247424669G>T | CA1494999 | NLRP3 | c.1220G>T (p.Cys407Phe) c.1085G>T (p.Cys362Phe) c.1226G>T (p.Cys409Phe) n.1401G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.247424670C>A | CA345556421 | NLRP3 | c.1221C>A (p.Cys407Ter) c.1086C>A (p.Cys362Ter) c.1227C>A (p.Cys409Ter) n.1402C>A | |
| 1 | g.247424670C= | CA1142000281 | NLRP3 | c.1221C= (p.Cys407=) c.1086C= (p.Cys362=) c.1227C= (p.Cys409=) n.1402C= | |
| 1 | g.247424670C>G | CA345556422 | NLRP3 | c.1221C>G (p.Cys407Trp) c.1086C>G (p.Cys362Trp) c.1227C>G (p.Cys409Trp) n.1402C>G | |
| 1 | g.247424670C>T | CA40691597 | NLRP3 | c.1221C>T (p.Cys407=) c.1086C>T (p.Cys362=) c.1227C>T (p.Cys409=) n.1402C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.247424671T>A | CA345556423 | NLRP3 | c.1222T>A (p.Phe408Ile) c.1087T>A (p.Phe363Ile) c.1228T>A (p.Phe410Ile) n.1403T>A | |
| 1 | g.247424671T>C | CA345556424 | NLRP3 | c.1222T>C (p.Phe408Leu) c.1087T>C (p.Phe363Leu) c.1228T>C (p.Phe410Leu) n.1403T>C | |
| 1 | g.247424671T>G | CA345556425 | NLRP3 | c.1222T>G (p.Phe408Val) c.1087T>G (p.Phe363Val) c.1228T>G (p.Phe410Val) n.1403T>G | ClinVar |
| 1 | g.247424672T>A | CA345556428 | NLRP3 | c.1223T>A (p.Phe408Tyr) c.1088T>A (p.Phe363Tyr) c.1229T>A (p.Phe410Tyr) n.1404T>A | |
| 1 | g.247424672T>C | CA345556427 | NLRP3 | c.1223T>C (p.Phe408Ser) c.1088T>C (p.Phe363Ser) c.1229T>C (p.Phe410Ser) n.1404T>C | |
| 1 | g.247424672T>G | CA345556426 | NLRP3 | c.1223T>G (p.Phe408Cys) c.1088T>G (p.Phe363Cys) c.1229T>G (p.Phe410Cys) n.1404T>G | |
| 1 | g.247424673C>A | CA345556429 | NLRP3 | c.1224C>A (p.Phe408Leu) c.1089C>A (p.Phe363Leu) c.1230C>A (p.Phe410Leu) n.1405C>A | |
| 1 | g.247424673C= | CA1232098133 | NLRP3 | c.1224C= (p.Phe408=) c.1089C= (p.Phe363=) c.1230C= (p.Phe410=) n.1405C= | |
| 1 | g.247424673C>G | CA345556430 | NLRP3 | c.1224C>G (p.Phe408Leu) c.1089C>G (p.Phe363Leu) c.1230C>G (p.Phe410Leu) n.1405C>G | dbSNP |
| 1 | g.247424673C>T | CA424582693 | NLRP3 | c.1224C>T (p.Phe408=) c.1089C>T (p.Phe363=) c.1230C>T (p.Phe410=) n.1405C>T | |
| 1 | g.247424674A>C | CA345556431 | NLRP3 | c.1225A>C (p.Ile409Leu) c.1090A>C (p.Ile364Leu) c.1231A>C (p.Ile411Leu) n.1406A>C | |
| 1 | g.247424674A>G | CA345556433 | NLRP3 | c.1225A>G (p.Ile409Val) c.1090A>G (p.Ile364Val) c.1231A>G (p.Ile411Val) n.1406A>G | |
| 1 | g.247424674A>T | CA345556432 | NLRP3 | c.1225A>T (p.Ile409Phe) c.1090A>T (p.Ile364Phe) c.1231A>T (p.Ile411Phe) n.1406A>T | |
| 1 | g.247424675T>A | CA40691605 | NLRP3 | c.1226T>A (p.Ile409Asn) c.1091T>A (p.Ile364Asn) c.1232T>A (p.Ile411Asn) n.1407T>A | dbSNP gnomAD v4 |
| 1 | g.247424675T>C | CA345556434 | NLRP3 | c.1226T>C (p.Ile409Thr) c.1091T>C (p.Ile364Thr) c.1232T>C (p.Ile411Thr) n.1407T>C |