Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424655C>A | CA424582684 | NLRP3 | c.1206C>A (p.Val402=) c.1071C>A (p.Val357=) c.1212C>A (p.Val404=) n.1387C>A | gnomAD v4 |
1 | g.247424655C>G | CA424582685 | NLRP3 | c.1206C>G (p.Val402=) c.1071C>G (p.Val357=) c.1212C>G (p.Val404=) n.1387C>G | |
1 | g.247424655C>T | CA424582686 | NLRP3 | c.1206C>T (p.Val402=) c.1071C>T (p.Val357=) c.1212C>T (p.Val404=) n.1387C>T | COSMIC |
1 | g.247424656C>A | CA345556390 | NLRP3 | c.1207C>A (p.Leu403Ile) c.1072C>A (p.Leu358Ile) c.1213C>A (p.Leu405Ile) n.1388C>A | |
1 | g.247424656C= | CA1232098088 | NLRP3 | c.1207C= (p.Leu403=) c.1072C= (p.Leu358=) c.1213C= (p.Leu405=) n.1388C= | |
1 | g.247424656C>G | CA345556391 | NLRP3 | c.1207C>G (p.Leu403Val) c.1072C>G (p.Leu358Val) c.1213C>G (p.Leu405Val) n.1388C>G | |
1 | g.247424656C>T | CA345556392 | NLRP3 | c.1207C>T (p.Leu403Phe) c.1072C>T (p.Leu358Phe) c.1213C>T (p.Leu405Phe) n.1388C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424657T>A | CA345556393 | NLRP3 | c.1208T>A (p.Leu403His) c.1073T>A (p.Leu358His) c.1214T>A (p.Leu405His) n.1389T>A | |
1 | g.247424657T>C | CA345556394 | NLRP3 | c.1208T>C (p.Leu403Pro) c.1073T>C (p.Leu358Pro) c.1214T>C (p.Leu405Pro) n.1389T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424657T>G | CA345556395 | NLRP3 | c.1208T>G (p.Leu403Arg) c.1073T>G (p.Leu358Arg) c.1214T>G (p.Leu405Arg) n.1389T>G | |
1 | g.247424657T= | CA1232098089 | NLRP3 | c.1208T= (p.Leu403=) c.1073T= (p.Leu358=) c.1214T= (p.Leu405=) n.1389T= | |
1 | g.247424658C>A | CA424582689 | NLRP3 | c.1209C>A (p.Leu403=) c.1074C>A (p.Leu358=) c.1215C>A (p.Leu405=) n.1390C>A | |
1 | g.247424658C= | CA1232098091 | NLRP3 | c.1209C= (p.Leu403=) c.1074C= (p.Leu358=) c.1215C= (p.Leu405=) n.1390C= | |
1 | g.247424658C>G | CA424582688 | NLRP3 | c.1209C>G (p.Leu403=) c.1074C>G (p.Leu358=) c.1215C>G (p.Leu405=) n.1390C>G | dbSNP |
1 | g.247424658C>T | CA424582687 | NLRP3 | c.1209C>T (p.Leu403=) c.1074C>T (p.Leu358=) c.1215C>T (p.Leu405=) n.1390C>T | |
1 | g.247424659T>A | CA345556396 | NLRP3 | c.1210T>A (p.Phe404Ile) c.1075T>A (p.Phe359Ile) c.1216T>A (p.Phe406Ile) n.1391T>A | |
1 | g.247424659T>C | CA345556397 | NLRP3 | c.1210T>C (p.Phe404Leu) c.1075T>C (p.Phe359Leu) c.1216T>C (p.Phe406Leu) n.1391T>C | COSMIC |
1 | g.247424659T>G | CA345556398 | NLRP3 | c.1210T>G (p.Phe404Val) c.1075T>G (p.Phe359Val) c.1216T>G (p.Phe406Val) n.1391T>G | |
1 | g.247424660T>A | CA345556399 | NLRP3 | c.1211T>A (p.Phe404Tyr) c.1076T>A (p.Phe359Tyr) c.1217T>A (p.Phe406Tyr) n.1392T>A | |
1 | g.247424660T>C | CA345556400 | NLRP3 | c.1211T>C (p.Phe404Ser) c.1076T>C (p.Phe359Ser) c.1217T>C (p.Phe406Ser) n.1392T>C | |
1 | g.247424660T>G | CA345556401 | NLRP3 | c.1211T>G (p.Phe404Cys) c.1076T>G (p.Phe359Cys) c.1217T>G (p.Phe406Cys) n.1392T>G | |
1 | g.247424661C>A | CA345556403 | NLRP3 | c.1212C>A (p.Phe404Leu) c.1077C>A (p.Phe359Leu) c.1218C>A (p.Phe406Leu) n.1393C>A | |
1 | g.247424661C>G | CA345556402 | NLRP3 | c.1212C>G (p.Phe404Leu) c.1077C>G (p.Phe359Leu) c.1218C>G (p.Phe406Leu) n.1393C>G | |
1 | g.247424661C>T | CA424582690 | NLRP3 | c.1212C>T (p.Phe404=) c.1077C>T (p.Phe359=) c.1218C>T (p.Phe406=) n.1393C>T | gnomAD v4 |
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 |