Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424023A>C | CA345554959 | NLRP3 | c.574A>C (p.Lys192Gln) c.439A>C (p.Lys147Gln) c.580A>C (p.Lys194Gln) n.755A>C | |
1 | g.247424023A>G | CA345554957 | NLRP3 | c.574A>G (p.Lys192Glu) c.439A>G (p.Lys147Glu) c.580A>G (p.Lys194Glu) n.755A>G | |
1 | g.247424023A>T | CA345554958 | NLRP3 | c.574A>T (p.Lys192Ter) c.439A>T (p.Lys147Ter) c.580A>T (p.Lys194Ter) n.755A>T | |
1 | g.247424024A>C | CA345554960 | NLRP3 | c.575A>C (p.Lys192Thr) c.440A>C (p.Lys147Thr) c.581A>C (p.Lys194Thr) n.756A>C | |
1 | g.247424024A>G | CA345554961 | NLRP3 | c.575A>G (p.Lys192Arg) c.440A>G (p.Lys147Arg) c.581A>G (p.Lys194Arg) n.756A>G | ClinVar dbSNP |
1 | g.247424024A>T | CA345554962 | NLRP3 | c.575A>T (p.Lys192Met) c.440A>T (p.Lys147Met) c.581A>T (p.Lys194Met) n.756A>T | |
1 | g.247424025G>A | CA424573226 | NLRP3 | c.576G>A (p.Lys192=) c.441G>A (p.Lys147=) c.582G>A (p.Lys194=) n.757G>A | |
1 | g.247424025G>C | CA345554963 | NLRP3 | c.576G>C (p.Lys192Asn) c.441G>C (p.Lys147Asn) c.582G>C (p.Lys194Asn) n.757G>C | |
1 | g.247424025G>T | CA345554964 | NLRP3 | c.576G>T (p.Lys192Asn) c.441G>T (p.Lys147Asn) c.582G>T (p.Lys194Asn) n.757G>T | |
1 | g.247424026A>C | CA345554965 | NLRP3 | c.577A>C (p.Thr193Pro) c.442A>C (p.Thr148Pro) c.583A>C (p.Thr195Pro) n.758A>C | |
1 | g.247424026A>G | CA345554967 | NLRP3 | c.577A>G (p.Thr193Ala) c.442A>G (p.Thr148Ala) c.583A>G (p.Thr195Ala) n.758A>G | dbSNP |
1 | g.247424026A>T | CA345554966 | NLRP3 | c.577A>T (p.Thr193Ser) c.442A>T (p.Thr148Ser) c.583A>T (p.Thr195Ser) n.758A>T | |
1 | g.247424027C>A | CA1494897 | NLRP3 | c.578C>A (p.Thr193Lys) c.443C>A (p.Thr148Lys) c.584C>A (p.Thr195Lys) n.759C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424027C= | CA1140985490 | NLRP3 | c.578C= (p.Thr193=) c.443C= (p.Thr148=) c.584C= (p.Thr195=) n.759C= | |
1 | g.247424027C>G | CA40690539 | NLRP3 | c.578C>G (p.Thr193Arg) c.443C>G (p.Thr148Arg) c.584C>G (p.Thr195Arg) n.759C>G | dbSNP |
1 | g.247424027C>T | CA1494898 | NLRP3 | c.578C>T (p.Thr193Met) c.443C>T (p.Thr148Met) c.584C>T (p.Thr195Met) n.759C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424028G>A | CA1494899 | NLRP3 | c.579G>A (p.Thr193=) c.444G>A (p.Thr148=) c.585G>A (p.Thr195=) n.760G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424028G>C | CA424573227 | NLRP3 | c.579G>C (p.Thr193=) c.444G>C (p.Thr148=) c.585G>C (p.Thr195=) n.760G>C | |
1 | g.247424028G= | CA1142315794 | NLRP3 | c.579G= (p.Thr193=) c.444G= (p.Thr148=) c.585G= (p.Thr195=) n.760G= | |
1 | g.247424028G>T | CA424573228 | NLRP3 | c.579G>T (p.Thr193=) c.444G>T (p.Thr148=) c.585G>T (p.Thr195=) n.760G>T | dbSNP |
1 | g.247424029T>A | CA345554968 | NLRP3 | c.580T>A (p.Cys194Ser) c.445T>A (p.Cys149Ser) c.586T>A (p.Cys196Ser) n.761T>A | |
1 | g.247424029T>C | CA345554969 | NLRP3 | c.580T>C (p.Cys194Arg) c.445T>C (p.Cys149Arg) c.586T>C (p.Cys196Arg) n.761T>C | |
1 | g.247424029T>G | CA345554970 | NLRP3 | c.580T>G (p.Cys194Gly) c.445T>G (p.Cys149Gly) c.586T>G (p.Cys196Gly) n.761T>G | |
1 | g.247424030G>A | CA345554971 | NLRP3 | c.581G>A (p.Cys194Tyr) c.446G>A (p.Cys149Tyr) c.587G>A (p.Cys196Tyr) n.762G>A | |
1 | g.247424030G>C | CA345554972 | NLRP3 | c.581G>C (p.Cys194Ser) c.446G>C (p.Cys149Ser) c.587G>C (p.Cys196Ser) n.762G>C | |
1 | g.247424030G>T | CA345554973 | NLRP3 | c.581G>T (p.Cys194Phe) c.446G>T (p.Cys149Phe) c.587G>T (p.Cys196Phe) n.762G>T | |
1 | g.247424031T>A | CA345554974 | NLRP3 | c.582T>A (p.Cys194Ter) c.447T>A (p.Cys149Ter) c.588T>A (p.Cys196Ter) n.763T>A | |
1 | g.247424031T>C | CA424573229 | NLRP3 | c.582T>C (p.Cys194=) c.447T>C (p.Cys149=) c.588T>C (p.Cys196=) n.763T>C | |
1 | g.247424031T>G | CA345554975 | NLRP3 | c.582T>G (p.Cys194Trp) c.447T>G (p.Cys149Trp) c.588T>G (p.Cys196Trp) n.763T>G | gnomAD v4 |
1 | g.247424032G>A | CA345554978 | NLRP3 | c.583G>A (p.Glu195Lys) c.448G>A (p.Glu150Lys) c.589G>A (p.Glu197Lys) n.764G>A | |
1 | g.247424032G>C | CA345554976 | NLRP3 | c.583G>C (p.Glu195Gln) c.448G>C (p.Glu150Gln) c.589G>C (p.Glu197Gln) n.764G>C | |
1 | g.247424032G>T | CA345554977 | NLRP3 | c.583G>T (p.Glu195Ter) c.448G>T (p.Glu150Ter) c.589G>T (p.Glu197Ter) n.764G>T | |
1 | g.247424033A>C | CA345554979 | NLRP3 | c.584A>C (p.Glu195Ala) c.449A>C (p.Glu150Ala) c.590A>C (p.Glu197Ala) n.765A>C | |
1 | g.247424033A>G | CA345554980 | NLRP3 | c.584A>G (p.Glu195Gly) c.449A>G (p.Glu150Gly) c.590A>G (p.Glu197Gly) n.765A>G | |
1 | g.247424033A>T | CA345554981 | NLRP3 | c.584A>T (p.Glu195Val) c.449A>T (p.Glu150Val) c.590A>T (p.Glu197Val) n.765A>T | |
1 | g.247424034G>A | CA424573230 | NLRP3 | c.585G>A (p.Glu195=) c.450G>A (p.Glu150=) c.591G>A (p.Glu197=) n.766G>A | gnomAD v4 |
1 | g.247424034G>C | CA345554982 | NLRP3 | c.585G>C (p.Glu195Asp) c.450G>C (p.Glu150Asp) c.591G>C (p.Glu197Asp) n.766G>C | |
1 | g.247424034G>T | CA345554983 | NLRP3 | c.585G>T (p.Glu195Asp) c.450G>T (p.Glu150Asp) c.591G>T (p.Glu197Asp) n.766G>T | |
1 | g.247424035A>C | CA345554984 | NLRP3 | c.586A>C (p.Ser196Arg) c.451A>C (p.Ser151Arg) c.592A>C (p.Ser198Arg) n.767A>C | |
1 | g.247424035A>G | CA345554985 | NLRP3 | c.586A>G (p.Ser196Gly) c.451A>G (p.Ser151Gly) c.592A>G (p.Ser198Gly) n.767A>G | |
1 | g.247424035A>T | CA345554986 | NLRP3 | c.586A>T (p.Ser196Cys) c.451A>T (p.Ser151Cys) c.592A>T (p.Ser198Cys) n.767A>T | |
1 | g.247424036G>A | CA281335 | NLRP3 | c.587G>A (p.Ser196Asn) c.452G>A (p.Ser151Asn) c.593G>A (p.Ser198Asn) n.768G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424036G>C | CA345554987 | NLRP3 | c.587G>C (p.Ser196Thr) c.452G>C (p.Ser151Thr) c.593G>C (p.Ser198Thr) n.768G>C | |
1 | g.247424036G= | CA1142421371 | NLRP3 | c.587G= (p.Ser196=) c.452G= (p.Ser151=) c.593G= (p.Ser198=) n.768G= | |
1 | g.247424036G>T | CA345554988 | NLRP3 | c.587G>T (p.Ser196Ile) c.452G>T (p.Ser151Ile) c.593G>T (p.Ser198Ile) n.768G>T | |
1 | g.247424037C>A | CA345554989 | NLRP3 | c.588C>A (p.Ser196Arg) c.453C>A (p.Ser151Arg) c.594C>A (p.Ser198Arg) n.769C>A | gnomAD v4 |
1 | g.247424037C>G | CA345554990 | NLRP3 | c.588C>G (p.Ser196Arg) c.453C>G (p.Ser151Arg) c.594C>G (p.Ser198Arg) n.769C>G | |
1 | g.247424037C>T | CA424573231 | NLRP3 | c.588C>T (p.Ser196=) c.453C>T (p.Ser151=) c.594C>T (p.Ser198=) n.769C>T | ClinVar dbSNP |
1 | g.247424037_247424038insACCTTTCCTACCCAGTGGGGAGGAGCTGCA | CA2748523051 | NLRP3 | c.588_589insACCTTTCCTACCCAGTGGGGAGGAGCTGCA (p.Ser196_Pro197insThrPheProThrGlnTrpGlyGlyAlaAla) c.453_454insACCTTTCCTACCCAGTGGGGAGGAGCTGCA (p.Ser151_Pro152insThrPheProThrGlnTrpGlyGlyAlaAla) c.594_595insACCTTTCCTACCCAGTGGGGAGGAGCTGCA (p.Ser198_Pro199insThrPheProThrGlnTrpGlyGlyAlaAla) n.769_770insACCTTTCCTACCCAGTGGGGAGGAGCTGCA | |
1 | g.247424038C>A | CA345554993 | NLRP3 | c.589C>A (p.Pro197Thr) c.454C>A (p.Pro152Thr) c.595C>A (p.Pro199Thr) n.770C>A | |
1 | g.247424038C>G | CA345554992 | NLRP3 | c.589C>G (p.Pro197Ala) c.454C>G (p.Pro152Ala) c.595C>G (p.Pro199Ala) n.770C>G | |
1 | g.247424038C>T | CA345554991 | NLRP3 | c.589C>T (p.Pro197Ser) c.454C>T (p.Pro152Ser) c.595C>T (p.Pro199Ser) n.770C>T | |
1 | g.247424039C>A | CA345554994 | NLRP3 | c.590C>A (p.Pro197His) c.455C>A (p.Pro152His) c.596C>A (p.Pro199His) n.771C>A | |
1 | g.247424039C>G | CA345554995 | NLRP3 | c.590C>G (p.Pro197Arg) c.455C>G (p.Pro152Arg) c.596C>G (p.Pro199Arg) n.771C>G | |
1 | g.247424039C>T | CA345554996 | NLRP3 | c.590C>T (p.Pro197Leu) c.455C>T (p.Pro152Leu) c.596C>T (p.Pro199Leu) n.771C>T | |
1 | g.247424040C>A | CA424573232 | NLRP3 | c.591C>A (p.Pro197=) c.456C>A (p.Pro152=) c.597C>A (p.Pro199=) n.772C>A | ClinVar dbSNP |
1 | g.247424040C= | CA1139997169 | NLRP3 | c.591C= (p.Pro197=) c.456C= (p.Pro152=) c.597C= (p.Pro199=) n.772C= | |
1 | g.247424040C>G | CA424573233 | NLRP3 | c.591C>G (p.Pro197=) c.456C>G (p.Pro152=) c.597C>G (p.Pro199=) n.772C>G | dbSNP COSMIC |
1 | g.247424040C>T | CA1494900 | NLRP3 | c.591C>T (p.Pro197=) c.456C>T (p.Pro152=) c.597C>T (p.Pro199=) n.772C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424041G>A | CA280962 | NLRP3 | c.592G>A (p.Val198Met) c.457G>A (p.Val153Met) c.598G>A (p.Val200Met) n.773G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424041G>C | CA1494901 | NLRP3 | c.592G>C (p.Val198Leu) c.457G>C (p.Val153Leu) c.598G>C (p.Val200Leu) n.773G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424041G= | CA1141581401 | NLRP3 | c.592G= (p.Val198=) c.457G= (p.Val153=) c.598G= (p.Val200=) n.773G= | |
1 | g.247424041G>T | CA345554997 | NLRP3 | c.592G>T (p.Val198Leu) c.457G>T (p.Val153Leu) c.598G>T (p.Val200Leu) n.773G>T | |
1 | g.247424042T>A | CA345554998 | NLRP3 | c.593T>A (p.Val198Glu) c.458T>A (p.Val153Glu) c.599T>A (p.Val200Glu) n.774T>A | |
1 | g.247424042T>C | CA345554999 | NLRP3 | c.593T>C (p.Val198Ala) c.458T>C (p.Val153Ala) c.599T>C (p.Val200Ala) n.774T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424042T>G | CA345555000 | NLRP3 | c.593T>G (p.Val198Gly) c.458T>G (p.Val153Gly) c.599T>G (p.Val200Gly) n.774T>G | |
1 | g.247424042T= | CA1232097140 | NLRP3 | c.593T= (p.Val198=) c.458T= (p.Val153=) c.599T= (p.Val200=) n.774T= | |
1 | g.247424043G>A | CA424573234 | NLRP3 | c.594G>A (p.Val198=) c.459G>A (p.Val153=) c.600G>A (p.Val200=) n.775G>A | |
1 | g.247424043G>C | CA424573235 | NLRP3 | c.594G>C (p.Val198=) c.459G>C (p.Val153=) c.600G>C (p.Val200=) n.775G>C | |
1 | g.247424043G>T | CA424573236 | NLRP3 | c.594G>T (p.Val198=) c.459G>T (p.Val153=) c.600G>T (p.Val200=) n.775G>T | |
1 | g.247424044A= | CA1232097141 | NLRP3 | c.595A= (p.Ser199=) c.460A= (p.Ser154=) c.601A= (p.Ser201=) n.776A= | |
1 | g.247424044A>C | CA345555001 | NLRP3 | c.595A>C (p.Ser199Arg) c.460A>C (p.Ser154Arg) c.601A>C (p.Ser201Arg) n.776A>C | |
1 | g.247424044A>G | CA345555002 | NLRP3 | c.595A>G (p.Ser199Gly) c.460A>G (p.Ser154Gly) c.601A>G (p.Ser201Gly) n.776A>G | dbSNP |
1 | g.247424044A>T | CA345555003 | NLRP3 | c.595A>T (p.Ser199Cys) c.460A>T (p.Ser154Cys) c.601A>T (p.Ser201Cys) n.776A>T | |
1 | g.247424045G>A | CA345555005 | NLRP3 | c.596G>A (p.Ser199Asn) c.461G>A (p.Ser154Asn) c.602G>A (p.Ser201Asn) n.777G>A | |
1 | g.247424045G>C | CA345555006 | NLRP3 | c.596G>C (p.Ser199Thr) c.461G>C (p.Ser154Thr) c.602G>C (p.Ser201Thr) n.777G>C | |
1 | g.247424045G>T | CA345555004 | NLRP3 | c.596G>T (p.Ser199Ile) c.461G>T (p.Ser154Ile) c.602G>T (p.Ser201Ile) n.777G>T | |
1 | g.247424046T>A | CA1494902 | NLRP3 | c.597T>A (p.Ser199Arg) c.462T>A (p.Ser154Arg) c.603T>A (p.Ser201Arg) n.778T>A | dbSNP ExAC |
1 | g.247424046T>C | CA424573237 | NLRP3 | c.597T>C (p.Ser199=) c.462T>C (p.Ser154=) c.603T>C (p.Ser201=) n.778T>C | |
1 | g.247424046T>G | CA345555007 | NLRP3 | c.597T>G (p.Ser199Arg) c.462T>G (p.Ser154Arg) c.603T>G (p.Ser201Arg) n.778T>G | |
1 | g.247424046T= | CA1143589703 | NLRP3 | c.597T= (p.Ser199=) c.462T= (p.Ser154=) c.603T= (p.Ser201=) n.778T= | |
1 | g.247424047C>A | CA345555008 | NLRP3 | c.598C>A (p.Pro200Thr) c.463C>A (p.Pro155Thr) c.604C>A (p.Pro202Thr) n.779C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424047C= | CA1232097143 | NLRP3 | c.598C= (p.Pro200=) c.463C= (p.Pro155=) c.604C= (p.Pro202=) n.779C= | |
1 | g.247424047C>G | CA345555010 | NLRP3 | c.598C>G (p.Pro200Ala) c.463C>G (p.Pro155Ala) c.604C>G (p.Pro202Ala) n.779C>G | |
1 | g.247424047C>T | CA345555009 | NLRP3 | c.598C>T (p.Pro200Ser) c.463C>T (p.Pro155Ser) c.604C>T (p.Pro202Ser) n.779C>T | dbSNP |
1 | g.247424048C>A | CA345555011 | NLRP3 | c.599C>A (p.Pro200His) c.464C>A (p.Pro155His) c.605C>A (p.Pro202His) n.780C>A | |
1 | g.247424048C>G | CA345555012 | NLRP3 | c.599C>G (p.Pro200Arg) c.464C>G (p.Pro155Arg) c.605C>G (p.Pro202Arg) n.780C>G | gnomAD v4 |
1 | g.247424048C>T | CA345555013 | NLRP3 | c.599C>T (p.Pro200Leu) c.464C>T (p.Pro155Leu) c.605C>T (p.Pro202Leu) n.780C>T | |
1 | g.247424049C>A | CA424573238 | NLRP3 | c.600C>A (p.Pro200=) c.465C>A (p.Pro155=) c.606C>A (p.Pro202=) n.781C>A | |
1 | g.247424049C>G | CA424573239 | NLRP3 | c.600C>G (p.Pro200=) c.465C>G (p.Pro155=) c.606C>G (p.Pro202=) n.781C>G | |
1 | g.247424049C>T | CA424573240 | NLRP3 | c.600C>T (p.Pro200=) c.465C>T (p.Pro155=) c.606C>T (p.Pro202=) n.781C>T | |
1 | g.247424050A= | CA1232097145 | NLRP3 | c.601A= (p.Ile201=) c.466A= (p.Ile156=) c.607A= (p.Ile203=) n.782A= | |
1 | g.247424050A>C | CA345555014 | NLRP3 | c.601A>C (p.Ile201Leu) c.466A>C (p.Ile156Leu) c.607A>C (p.Ile203Leu) n.782A>C | |
1 | g.247424050A>G | CA345555015 | NLRP3 | c.601A>G (p.Ile201Val) c.466A>G (p.Ile156Val) c.607A>G (p.Ile203Val) n.782A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424050A>T | CA345555016 | NLRP3 | c.601A>T (p.Ile201Phe) c.466A>T (p.Ile156Phe) c.607A>T (p.Ile203Phe) n.782A>T | |
1 | g.247424051T>A | CA345555017 | NLRP3 | c.602T>A (p.Ile201Asn) c.467T>A (p.Ile156Asn) c.608T>A (p.Ile203Asn) n.783T>A | |
1 | g.247424051T>C | CA345555018 | NLRP3 | c.602T>C (p.Ile201Thr) c.467T>C (p.Ile156Thr) c.608T>C (p.Ile203Thr) n.783T>C | |
1 | g.247424051T>G | CA345555019 | NLRP3 | c.602T>G (p.Ile201Ser) c.467T>G (p.Ile156Ser) c.608T>G (p.Ile203Ser) n.783T>G | |
1 | g.247424052T>A | CA424573241 | NLRP3 | c.603T>A (p.Ile201=) c.468T>A (p.Ile156=) c.609T>A (p.Ile203=) n.784T>A | |
1 | g.247424052T>C | CA424573242 | NLRP3 | c.603T>C (p.Ile201=) c.468T>C (p.Ile156=) c.609T>C (p.Ile203=) n.784T>C | |
1 | g.247424052T>G | CA345555020 | NLRP3 | c.603T>G (p.Ile201Met) c.468T>G (p.Ile156Met) c.609T>G (p.Ile203Met) n.784T>G | |
1 | g.247424053A>C | CA345555021 | NLRP3 | c.604A>C (p.Lys202Gln) c.469A>C (p.Lys157Gln) c.610A>C (p.Lys204Gln) n.785A>C | |
1 | g.247424053A>G | CA345555022 | NLRP3 | c.604A>G (p.Lys202Glu) c.469A>G (p.Lys157Glu) c.610A>G (p.Lys204Glu) n.785A>G | |
1 | g.247424053A>T | CA345555023 | NLRP3 | c.604A>T (p.Lys202Ter) c.469A>T (p.Lys157Ter) c.610A>T (p.Lys204Ter) n.785A>T | |
1 | g.247424054A>C | CA345555024 | NLRP3 | c.605A>C (p.Lys202Thr) c.470A>C (p.Lys157Thr) c.611A>C (p.Lys204Thr) n.786A>C | |
1 | g.247424054A>G | CA345555026 | NLRP3 | c.605A>G (p.Lys202Arg) c.470A>G (p.Lys157Arg) c.611A>G (p.Lys204Arg) n.786A>G | |
1 | g.247424054A>T | CA345555025 | NLRP3 | c.605A>T (p.Lys202Met) c.470A>T (p.Lys157Met) c.611A>T (p.Lys204Met) n.786A>T | |
1 | g.247424055G>A | CA1494903 | NLRP3 | c.606G>A (p.Lys202=) c.471G>A (p.Lys157=) c.612G>A (p.Lys204=) n.787G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424055G>C | CA345555027 | NLRP3 | c.606G>C (p.Lys202Asn) c.471G>C (p.Lys157Asn) c.612G>C (p.Lys204Asn) n.787G>C | |
1 | g.247424055G= | CA1142126120 | NLRP3 | c.606G= (p.Lys202=) c.471G= (p.Lys157=) c.612G= (p.Lys204=) n.787G= | |
1 | g.247424055G>T | CA345555028 | NLRP3 | c.606G>T (p.Lys202Asn) c.471G>T (p.Lys157Asn) c.612G>T (p.Lys204Asn) n.787G>T | dbSNP |
1 | g.247424056A= | CA1232097149 | NLRP3 | c.607A= (p.Met203=) c.472A= (p.Met158=) c.613A= (p.Met205=) n.788A= | |
1 | g.247424056A>C | CA345555029 | NLRP3 | c.607A>C (p.Met203Leu) c.472A>C (p.Met158Leu) c.613A>C (p.Met205Leu) n.788A>C | |
1 | g.247424056A>G | CA1494904 | NLRP3 | c.607A>G (p.Met203Val) c.472A>G (p.Met158Val) c.613A>G (p.Met205Val) n.788A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424056A>T | CA345555030 | NLRP3 | c.607A>T (p.Met203Leu) c.472A>T (p.Met158Leu) c.613A>T (p.Met205Leu) n.788A>T | |
1 | g.247424057T>A | CA345555031 | NLRP3 | c.608T>A (p.Met203Lys) c.473T>A (p.Met158Lys) c.614T>A (p.Met205Lys) n.789T>A | |
1 | g.247424057T>C | CA345555032 | NLRP3 | c.608T>C (p.Met203Thr) c.473T>C (p.Met158Thr) c.614T>C (p.Met205Thr) n.789T>C | ClinVar dbSNP gnomAD v4 |
1 | g.247424057T>G | CA345555033 | NLRP3 | c.608T>G (p.Met203Arg) c.473T>G (p.Met158Arg) c.614T>G (p.Met205Arg) n.789T>G | |
1 | g.247424058G>A | CA345555036 | NLRP3 | c.609G>A (p.Met203Ile) c.474G>A (p.Met158Ile) c.615G>A (p.Met205Ile) n.790G>A | |
1 | g.247424058G>C | CA345555035 | NLRP3 | c.609G>C (p.Met203Ile) c.474G>C (p.Met158Ile) c.615G>C (p.Met205Ile) n.790G>C | |
1 | g.247424058G>T | CA345555034 | NLRP3 | c.609G>T (p.Met203Ile) c.474G>T (p.Met158Ile) c.615G>T (p.Met205Ile) n.790G>T | |
1 | g.247424059G>A | CA345555037 | NLRP3 | c.610G>A (p.Glu204Lys) c.475G>A (p.Glu159Lys) c.616G>A (p.Glu206Lys) n.791G>A | ClinVar dbSNP gnomAD v4 |
1 | g.247424059G>C | CA345555038 | NLRP3 | c.610G>C (p.Glu204Gln) c.475G>C (p.Glu159Gln) c.616G>C (p.Glu206Gln) n.791G>C | |
1 | g.247424059G= | CA1232097154 | NLRP3 | c.610G= (p.Glu204=) c.475G= (p.Glu159=) c.616G= (p.Glu206=) n.791G= | |
1 | g.247424059G>T | CA345555039 | NLRP3 | c.610G>T (p.Glu204Ter) c.475G>T (p.Glu159Ter) c.616G>T (p.Glu206Ter) n.791G>T | |
1 | g.247424060A>C | CA345555040 | NLRP3 | c.611A>C (p.Glu204Ala) c.476A>C (p.Glu159Ala) c.617A>C (p.Glu206Ala) n.792A>C | |
1 | g.247424060A>G | CA345555041 | NLRP3 | c.611A>G (p.Glu204Gly) c.476A>G (p.Glu159Gly) c.617A>G (p.Glu206Gly) n.792A>G | |
1 | g.247424060A>T | CA345555042 | NLRP3 | c.611A>T (p.Glu204Val) c.476A>T (p.Glu159Val) c.617A>T (p.Glu206Val) n.792A>T | gnomAD v4 |
1 | g.247424061G>A | CA424573243 | NLRP3 | c.612G>A (p.Glu204=) c.477G>A (p.Glu159=) c.618G>A (p.Glu206=) n.793G>A | |
1 | g.247424061G>C | CA345555043 | NLRP3 | c.612G>C (p.Glu204Asp) c.477G>C (p.Glu159Asp) c.618G>C (p.Glu206Asp) n.793G>C | dbSNP gnomAD v4 |
1 | g.247424061G= | CA1232097157 | NLRP3 | c.612G= (p.Glu204=) c.477G= (p.Glu159=) c.618G= (p.Glu206=) n.793G= | |
1 | g.247424061G>T | CA40690572 | NLRP3 | c.612G>T (p.Glu204Asp) c.477G>T (p.Glu159Asp) c.618G>T (p.Glu206Asp) n.793G>T | dbSNP |
1 | g.247424062T>A | CA345555044 | NLRP3 | c.613T>A (p.Leu205Met) c.478T>A (p.Leu160Met) c.619T>A (p.Leu207Met) n.794T>A | dbSNP |
1 | g.247424062T>C | CA1494905 | NLRP3 | c.613T>C (p.Leu205=) c.478T>C (p.Leu160=) c.619T>C (p.Leu207=) n.794T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424062T>G | CA345555045 | NLRP3 | c.613T>G (p.Leu205Val) c.478T>G (p.Leu160Val) c.619T>G (p.Leu207Val) n.794T>G | |
1 | g.247424062T= | CA1232097160 | NLRP3 | c.613T= (p.Leu205=) c.478T= (p.Leu160=) c.619T= (p.Leu207=) n.794T= | |
1 | g.247424063T>A | CA345555046 | NLRP3 | c.614T>A (p.Leu205Ter) c.479T>A (p.Leu160Ter) c.620T>A (p.Leu207Ter) n.795T>A | |
1 | g.247424063T>C | CA345555047 | NLRP3 | c.614T>C (p.Leu205Ser) c.479T>C (p.Leu160Ser) c.620T>C (p.Leu207Ser) n.795T>C | |
1 | g.247424063T>G | CA345555048 | NLRP3 | c.614T>G (p.Leu205Trp) c.479T>G (p.Leu160Trp) c.620T>G (p.Leu207Trp) n.795T>G | |
1 | g.247424064G>A | CA424573244 | NLRP3 | c.615G>A (p.Leu205=) c.480G>A (p.Leu160=) c.621G>A (p.Leu207=) n.796G>A | gnomAD v4 |
1 | g.247424064G>C | CA345555049 | NLRP3 | c.615G>C (p.Leu205Phe) c.480G>C (p.Leu160Phe) c.621G>C (p.Leu207Phe) n.796G>C | |
1 | g.247424064G>T | CA345555050 | NLRP3 | c.615G>T (p.Leu205Phe) c.480G>T (p.Leu160Phe) c.621G>T (p.Leu207Phe) n.796G>T | |
1 | g.247424065C>A | CA345555051 | NLRP3 | c.616C>A (p.Leu206Met) c.481C>A (p.Leu161Met) c.622C>A (p.Leu208Met) n.797C>A | |
1 | g.247424065C>G | CA345555052 | NLRP3 | c.616C>G (p.Leu206Val) c.481C>G (p.Leu161Val) c.622C>G (p.Leu208Val) n.797C>G | |
1 | g.247424065C>T | CA424573245 | NLRP3 | c.616C>T (p.Leu206=) c.481C>T (p.Leu161=) c.622C>T (p.Leu208=) n.797C>T | ClinVar |
1 | g.247424066T>A | CA345555053 | NLRP3 | c.617T>A (p.Leu206Gln) c.482T>A (p.Leu161Gln) c.623T>A (p.Leu208Gln) n.798T>A | |
1 | g.247424066T>C | CA345555054 | NLRP3 | c.617T>C (p.Leu206Pro) c.482T>C (p.Leu161Pro) c.623T>C (p.Leu208Pro) n.798T>C | dbSNP gnomAD v4 |
1 | g.247424066T>G | CA345555055 | NLRP3 | c.617T>G (p.Leu206Arg) c.482T>G (p.Leu161Arg) c.623T>G (p.Leu208Arg) n.798T>G | |
1 | g.247424066T= | CA1232097161 | NLRP3 | c.617T= (p.Leu206=) c.482T= (p.Leu161=) c.623T= (p.Leu208=) n.798T= | |
1 | g.247424067G>A | CA16603679 | NLRP3 | c.618G>A (p.Leu206=) c.483G>A (p.Leu161=) c.624G>A (p.Leu208=) n.799G>A | ClinVar dbSNP |
1 | g.247424067G>C | CA424573246 | NLRP3 | c.618G>C (p.Leu206=) c.483G>C (p.Leu161=) c.624G>C (p.Leu208=) n.799G>C | gnomAD v4 |
1 | g.247424067G= | CA1143484500 | NLRP3 | c.618G= (p.Leu206=) c.483G= (p.Leu161=) c.624G= (p.Leu208=) n.799G= | |
1 | g.247424067G>T | CA1494906 | NLRP3 | c.618G>T (p.Leu206=) c.483G>T (p.Leu161=) c.624G>T (p.Leu208=) n.799G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424068T>A | CA345555056 | NLRP3 | c.619T>A (p.Phe207Ile) c.484T>A (p.Phe162Ile) c.625T>A (p.Phe209Ile) n.800T>A | |
1 | g.247424068T>C | CA1494907 | NLRP3 | c.619T>C (p.Phe207Leu) c.484T>C (p.Phe162Leu) c.625T>C (p.Phe209Leu) n.800T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424068T>G | CA345555057 | NLRP3 | c.619T>G (p.Phe207Val) c.484T>G (p.Phe162Val) c.625T>G (p.Phe209Val) n.800T>G | |
1 | g.247424068T= | CA1232097177 | NLRP3 | c.619T= (p.Phe207=) c.484T= (p.Phe162=) c.625T= (p.Phe209=) n.800T= | |
1 | g.247424068_247424069insC | CA916451694 | NLRP3 | c.619_620insC (p.Phe207SerfsTer2) c.484_485insC (p.Phe162SerfsTer2) c.625_626insC (p.Phe209SerfsTer2) n.800_801insC | dbSNP |
1 | g.247424069T>A | CA345555058 | NLRP3 | c.620T>A (p.Phe207Tyr) c.485T>A (p.Phe162Tyr) c.626T>A (p.Phe209Tyr) n.801T>A | |
1 | g.247424069T>C | CA345555059 | NLRP3 | c.620T>C (p.Phe207Ser) c.485T>C (p.Phe162Ser) c.626T>C (p.Phe209Ser) n.801T>C | |
1 | g.247424069T>G | CA345555060 | NLRP3 | c.620T>G (p.Phe207Cys) c.485T>G (p.Phe162Cys) c.626T>G (p.Phe209Cys) n.801T>G | |
1 | g.247424069T= | CA1232097185 | NLRP3 | c.620T= (p.Phe207=) c.485T= (p.Phe162=) c.626T= (p.Phe209=) n.801T= | |
1 | g.247424070T>A | CA345555062 | NLRP3 | c.621T>A (p.Phe207Leu) c.486T>A (p.Phe162Leu) c.627T>A (p.Phe209Leu) n.802T>A | |
1 | g.247424070T>C | CA424573247 | NLRP3 | c.621T>C (p.Phe207=) c.486T>C (p.Phe162=) c.627T>C (p.Phe209=) n.802T>C | |
1 | g.247424070T>G | CA345555061 | NLRP3 | c.621T>G (p.Phe207Leu) c.486T>G (p.Phe162Leu) c.627T>G (p.Phe209Leu) n.802T>G | |
1 | g.247424070_247424071insCAAT | CA916451695 | NLRP3 | c.621_622insCAAT (p.Asp208GlnfsTer2) c.486_487insCAAT (p.Asp163GlnfsTer2) c.627_628insCAAT (p.Asp210GlnfsTer2) n.802_803insCAAT | dbSNP |
1 | g.247424071G>A | CA345555063 | NLRP3 | c.622G>A (p.Asp208Asn) c.487G>A (p.Asp163Asn) c.628G>A (p.Asp210Asn) n.803G>A | dbSNP |
1 | g.247424071G>C | CA345555065 | NLRP3 | c.622G>C (p.Asp208His) c.487G>C (p.Asp163His) c.628G>C (p.Asp210His) n.803G>C | |
1 | g.247424071G= | CA1232097190 | NLRP3 | c.622G= (p.Asp208=) c.487G= (p.Asp163=) c.628G= (p.Asp210=) n.803G= | |
1 | g.247424071G>T | CA345555064 | NLRP3 | c.622G>T (p.Asp208Tyr) c.487G>T (p.Asp163Tyr) c.628G>T (p.Asp210Tyr) n.803G>T | |
1 | g.247424071_247424072insC | CA916451696 | NLRP3 | c.622_623insC (p.Asp208AlafsTer4) c.487_488insC (p.Asp163AlafsTer4) c.628_629insC (p.Asp210AlafsTer4) n.803_804insC | dbSNP |
1 | g.247424072A= | CA1232097194 | NLRP3 | c.623A= (p.Asp208=) c.488A= (p.Asp163=) c.629A= (p.Asp210=) n.804A= | |
1 | g.247424072A>C | CA345555066 | NLRP3 | c.623A>C (p.Asp208Ala) c.488A>C (p.Asp163Ala) c.629A>C (p.Asp210Ala) n.804A>C | |
1 | g.247424072A>G | CA345555067 | NLRP3 | c.623A>G (p.Asp208Gly) c.488A>G (p.Asp163Gly) c.629A>G (p.Asp210Gly) n.804A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424072A>T | CA345555068 | NLRP3 | c.623A>T (p.Asp208Val) c.488A>T (p.Asp163Val) c.629A>T (p.Asp210Val) n.804A>T | |
1 | g.247424073C>A | CA1494908 | NLRP3 | c.624C>A (p.Asp208Glu) c.489C>A (p.Asp163Glu) c.630C>A (p.Asp210Glu) n.805C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424073C= | CA1232097198 | NLRP3 | c.624C= (p.Asp208=) c.489C= (p.Asp163=) c.630C= (p.Asp210=) n.805C= | |
1 | g.247424073C>G | CA345555069 | NLRP3 | c.624C>G (p.Asp208Glu) c.489C>G (p.Asp163Glu) c.630C>G (p.Asp210Glu) n.805C>G | |
1 | g.247424073C>T | CA40690616 | NLRP3 | c.624C>T (p.Asp208=) c.489C>T (p.Asp163=) c.630C>T (p.Asp210=) n.805C>T | dbSNP |
1 | g.247424074C>A | CA345555070 | NLRP3 | c.625C>A (p.Pro209Thr) c.490C>A (p.Pro164Thr) c.631C>A (p.Pro211Thr) n.806C>A | COSMIC |
1 | g.247424074C= | CA1232097200 | NLRP3 | c.625C= (p.Pro209=) c.490C= (p.Pro164=) c.631C= (p.Pro211=) n.806C= | |
1 | g.247424074C>G | CA1494909 | NLRP3 | c.625C>G (p.Pro209Ala) c.490C>G (p.Pro164Ala) c.631C>G (p.Pro211Ala) n.806C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424074C>T | CA345555071 | NLRP3 | c.625C>T (p.Pro209Ser) c.490C>T (p.Pro164Ser) c.631C>T (p.Pro211Ser) n.806C>T | |
1 | g.247424075C>A | CA345555072 | NLRP3 | c.626C>A (p.Pro209His) c.491C>A (p.Pro164His) c.632C>A (p.Pro211His) n.807C>A | gnomAD v4 |
1 | g.247424075C>G | CA345555073 | NLRP3 | c.626C>G (p.Pro209Arg) c.491C>G (p.Pro164Arg) c.632C>G (p.Pro211Arg) n.807C>G | |
1 | g.247424075C>T | CA345555074 | NLRP3 | c.626C>T (p.Pro209Leu) c.491C>T (p.Pro164Leu) c.632C>T (p.Pro211Leu) n.807C>T | |
1 | g.247424076C>A | CA424573248 | NLRP3 | c.627C>A (p.Pro209=) c.492C>A (p.Pro164=) c.633C>A (p.Pro211=) n.808C>A | |
1 | g.247424076C= | CA1146307189 | NLRP3 | c.627C= (p.Pro209=) c.492C= (p.Pro164=) c.633C= (p.Pro211=) n.808C= | |
1 | g.247424076C>G | CA424573249 | NLRP3 | c.627C>G (p.Pro209=) c.492C>G (p.Pro164=) c.633C>G (p.Pro211=) n.808C>G | |
1 | g.247424076C>T | CA1494910 | NLRP3 | c.627C>T (p.Pro209=) c.492C>T (p.Pro164=) c.633C>T (p.Pro211=) n.808C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424077G>A | CA1494911 | NLRP3 | c.628G>A (p.Asp210Asn) c.493G>A (p.Asp165Asn) c.634G>A (p.Asp212Asn) n.809G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424077G>C | CA345555076 | NLRP3 | c.628G>C (p.Asp210His) c.493G>C (p.Asp165His) c.634G>C (p.Asp212His) n.809G>C | |
1 | g.247424077G= | CA1143835892 | NLRP3 | c.628G= (p.Asp210=) c.493G= (p.Asp165=) c.634G= (p.Asp212=) n.809G= | |
1 | g.247424077G>T | CA345555075 | NLRP3 | c.628G>T (p.Asp210Tyr) c.493G>T (p.Asp165Tyr) c.634G>T (p.Asp212Tyr) n.809G>T | |
1 | g.247424078A>C | CA345555077 | NLRP3 | c.629A>C (p.Asp210Ala) c.494A>C (p.Asp165Ala) c.635A>C (p.Asp212Ala) n.810A>C | |
1 | g.247424078A>G | CA345555078 | NLRP3 | c.629A>G (p.Asp210Gly) c.494A>G (p.Asp165Gly) c.635A>G (p.Asp212Gly) n.810A>G | |
1 | g.247424078A>T | CA345555079 | NLRP3 | c.629A>T (p.Asp210Val) c.494A>T (p.Asp165Val) c.635A>T (p.Asp212Val) n.810A>T | |
1 | g.247424079T>A | CA345555080 | NLRP3 | c.630T>A (p.Asp210Glu) c.495T>A (p.Asp165Glu) c.636T>A (p.Asp212Glu) n.811T>A | |
1 | g.247424079T>C | CA424573250 | NLRP3 | c.630T>C (p.Asp210=) c.495T>C (p.Asp165=) c.636T>C (p.Asp212=) n.811T>C | gnomAD v4 |
1 | g.247424079T>G | CA345555081 | NLRP3 | c.630T>G (p.Asp210Glu) c.495T>G (p.Asp165Glu) c.636T>G (p.Asp212Glu) n.811T>G | |
1 | g.247424080G>A | CA345555082 | NLRP3 | c.631G>A (p.Asp211Asn) c.496G>A (p.Asp166Asn) c.637G>A (p.Asp213Asn) n.812G>A | COSMIC |
1 | g.247424080G>C | CA345555083 | NLRP3 | c.631G>C (p.Asp211His) c.496G>C (p.Asp166His) c.637G>C (p.Asp213His) n.812G>C | dbSNP gnomAD v2 COSMIC |
1 | g.247424080G= | CA1232097209 | NLRP3 | c.631G= (p.Asp211=) c.496G= (p.Asp166=) c.637G= (p.Asp213=) n.812G= | |
1 | g.247424080G>T | CA345555084 | NLRP3 | c.631G>T (p.Asp211Tyr) c.496G>T (p.Asp166Tyr) c.637G>T (p.Asp213Tyr) n.812G>T | COSMIC |
1 | g.247424081A= | CA1232097214 | NLRP3 | c.632A= (p.Asp211=) c.497A= (p.Asp166=) c.638A= (p.Asp213=) n.813A= | |
1 | g.247424081A>C | CA345555085 | NLRP3 | c.632A>C (p.Asp211Ala) c.497A>C (p.Asp166Ala) c.638A>C (p.Asp213Ala) n.813A>C | |
1 | g.247424081A>G | CA345555086 | NLRP3 | c.632A>G (p.Asp211Gly) c.497A>G (p.Asp166Gly) c.638A>G (p.Asp213Gly) n.813A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424081A>T | CA345555087 | NLRP3 | c.632A>T (p.Asp211Val) c.497A>T (p.Asp166Val) c.638A>T (p.Asp213Val) n.813A>T | |
1 | g.247424082T>A | CA345555088 | NLRP3 | c.633T>A (p.Asp211Glu) c.498T>A (p.Asp166Glu) c.639T>A (p.Asp213Glu) n.814T>A | |
1 | g.247424082T>C | CA424573251 | NLRP3 | c.633T>C (p.Asp211=) c.498T>C (p.Asp166=) c.639T>C (p.Asp213=) n.814T>C | ClinVar dbSNP gnomAD v4 |
1 | g.247424082T>G | CA345555089 | NLRP3 | c.633T>G (p.Asp211Glu) c.498T>G (p.Asp166Glu) c.639T>G (p.Asp213Glu) n.814T>G | |
1 | g.247424082T= | CA1232097216 | NLRP3 | c.633T= (p.Asp211=) c.498T= (p.Asp166=) c.639T= (p.Asp213=) n.814T= | |
1 | g.247424083G>A | CA345555090 | NLRP3 | c.634G>A (p.Glu212Lys) c.499G>A (p.Glu167Lys) c.640G>A (p.Glu214Lys) n.815G>A | gnomAD v4 |
1 | g.247424083G>C | CA345555091 | NLRP3 | c.634G>C (p.Glu212Gln) c.499G>C (p.Glu167Gln) c.640G>C (p.Glu214Gln) n.815G>C | |
1 | g.247424083G>T | CA345555092 | NLRP3 | c.634G>T (p.Glu212Ter) c.499G>T (p.Glu167Ter) c.640G>T (p.Glu214Ter) n.815G>T | |
1 | g.247424084A>C | CA345555093 | NLRP3 | c.635A>C (p.Glu212Ala) c.500A>C (p.Glu167Ala) c.641A>C (p.Glu214Ala) n.816A>C | |
1 | g.247424084A>G | CA345555094 | NLRP3 | c.635A>G (p.Glu212Gly) c.500A>G (p.Glu167Gly) c.641A>G (p.Glu214Gly) n.816A>G | |
1 | g.247424084A>T | CA345555095 | NLRP3 | c.635A>T (p.Glu212Val) c.500A>T (p.Glu167Val) c.641A>T (p.Glu214Val) n.816A>T | |
1 | g.247424085G>A | CA1494912 | NLRP3 | c.636G>A (p.Glu212=) c.501G>A (p.Glu167=) c.642G>A (p.Glu214=) n.817G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424085G>C | CA345555096 | NLRP3 | c.636G>C (p.Glu212Asp) c.501G>C (p.Glu167Asp) c.642G>C (p.Glu214Asp) n.817G>C | |
1 | g.247424085G= | CA1142034096 | NLRP3 | c.636G= (p.Glu212=) c.501G= (p.Glu167=) c.642G= (p.Glu214=) n.817G= | |
1 | g.247424085G>T | CA345555097 | NLRP3 | c.636G>T (p.Glu212Asp) c.501G>T (p.Glu167Asp) c.642G>T (p.Glu214Asp) n.817G>T | |
1 | g.247424086C>A | CA345555098 | NLRP3 | c.637C>A (p.His213Asn) c.502C>A (p.His168Asn) c.643C>A (p.His215Asn) n.818C>A | |
1 | g.247424086C>G | CA345555099 | NLRP3 | c.637C>G (p.His213Asp) c.502C>G (p.His168Asp) c.643C>G (p.His215Asp) n.818C>G | |
1 | g.247424086C>T | CA345555100 | NLRP3 | c.637C>T (p.His213Tyr) c.502C>T (p.His168Tyr) c.643C>T (p.His215Tyr) n.818C>T | gnomAD v4 |
1 | g.247424087A= | CA1142361759 | NLRP3 | c.638A= (p.His213=) c.503A= (p.His168=) c.644A= (p.His215=) n.819A= | |
1 | g.247424087A>C | CA345555102 | NLRP3 | c.638A>C (p.His213Pro) c.503A>C (p.His168Pro) c.644A>C (p.His215Pro) n.819A>C | |
1 | g.247424087A>G | CA1494913 | NLRP3 | c.638A>G (p.His213Arg) c.503A>G (p.His168Arg) c.644A>G (p.His215Arg) n.819A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424087A>T | CA345555101 | NLRP3 | c.638A>T (p.His213Leu) c.503A>T (p.His168Leu) c.644A>T (p.His215Leu) n.819A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424088T>A | CA345555103 | NLRP3 | c.639T>A (p.His213Gln) c.504T>A (p.His168Gln) c.645T>A (p.His215Gln) n.820T>A | |
1 | g.247424088T>C | CA424573252 | NLRP3 | c.639T>C (p.His213=) c.504T>C (p.His168=) c.645T>C (p.His215=) n.820T>C | ClinVar gnomAD v4 |
1 | g.247424088T>G | CA345555104 | NLRP3 | c.639T>G (p.His213Gln) c.504T>G (p.His168Gln) c.645T>G (p.His215Gln) n.820T>G | |
1 | g.247424089T>A | CA345555105 | NLRP3 | c.640T>A (p.Ser214Thr) c.505T>A (p.Ser169Thr) c.646T>A (p.Ser216Thr) n.821T>A | |
1 | g.247424089T>C | CA345555106 | NLRP3 | c.640T>C (p.Ser214Pro) c.505T>C (p.Ser169Pro) c.646T>C (p.Ser216Pro) n.821T>C | |
1 | g.247424089T>G | CA345555107 | NLRP3 | c.640T>G (p.Ser214Ala) c.505T>G (p.Ser169Ala) c.646T>G (p.Ser216Ala) n.821T>G | |
1 | g.247424090C>A | CA1494914 | NLRP3 | c.641C>A (p.Ser214Tyr) c.506C>A (p.Ser169Tyr) c.647C>A (p.Ser216Tyr) n.822C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424090C= | CA1232097231 | NLRP3 | c.641C= (p.Ser214=) c.506C= (p.Ser169=) c.647C= (p.Ser216=) n.822C= | |
1 | g.247424090C>G | CA345555108 | NLRP3 | c.641C>G (p.Ser214Cys) c.506C>G (p.Ser169Cys) c.647C>G (p.Ser216Cys) n.822C>G | |
1 | g.247424090C>T | CA345555109 | NLRP3 | c.641C>T (p.Ser214Phe) c.506C>T (p.Ser169Phe) c.647C>T (p.Ser216Phe) n.822C>T | gnomAD v4 |
1 | g.247424091T>A | CA424573253 | NLRP3 | c.642T>A (p.Ser214=) c.507T>A (p.Ser169=) c.648T>A (p.Ser216=) n.823T>A | |
1 | g.247424091T>C | CA424573254 | NLRP3 | c.642T>C (p.Ser214=) c.507T>C (p.Ser169=) c.648T>C (p.Ser216=) n.823T>C | |
1 | g.247424091T>G | CA424573255 | NLRP3 | c.642T>G (p.Ser214=) c.507T>G (p.Ser169=) c.648T>G (p.Ser216=) n.823T>G | |
1 | g.247424092G>A | CA40690655 | NLRP3 | c.643G>A (p.Glu215Lys) c.508G>A (p.Glu170Lys) c.649G>A (p.Glu217Lys) n.824G>A | dbSNP |
1 | g.247424092G>C | CA345555110 | NLRP3 | c.643G>C (p.Glu215Gln) c.508G>C (p.Glu170Gln) c.649G>C (p.Glu217Gln) n.824G>C | |
1 | g.247424092G= | CA1232097235 | NLRP3 | c.643G= (p.Glu215=) c.508G= (p.Glu170=) c.649G= (p.Glu217=) n.824G= | |
1 | g.247424092G>T | CA345555111 | NLRP3 | c.643G>T (p.Glu215Ter) c.508G>T (p.Glu170Ter) c.649G>T (p.Glu217Ter) n.824G>T | |
1 | g.247424093A>C | CA345555112 | NLRP3 | c.644A>C (p.Glu215Ala) c.509A>C (p.Glu170Ala) c.650A>C (p.Glu217Ala) n.825A>C | |
1 | g.247424093A>G | CA345555113 | NLRP3 | c.644A>G (p.Glu215Gly) c.509A>G (p.Glu170Gly) c.650A>G (p.Glu217Gly) n.825A>G | ClinVar dbSNP |
1 | g.247424093A>T | CA345555114 | NLRP3 | c.644A>T (p.Glu215Val) c.509A>T (p.Glu170Val) c.650A>T (p.Glu217Val) n.825A>T | |
1 | g.247424094G>A | CA424573256 | NLRP3 | c.645G>A (p.Glu215=) c.510G>A (p.Glu170=) c.651G>A (p.Glu217=) n.826G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424094G>C | CA345555115 | NLRP3 | c.645G>C (p.Glu215Asp) c.510G>C (p.Glu170Asp) c.651G>C (p.Glu217Asp) n.826G>C | |
1 | g.247424094G= | CA1232097239 | NLRP3 | c.645G= (p.Glu215=) c.510G= (p.Glu170=) c.651G= (p.Glu217=) n.826G= | |
1 | g.247424094G>T | CA345555116 | NLRP3 | c.645G>T (p.Glu215Asp) c.510G>T (p.Glu170Asp) c.651G>T (p.Glu217Asp) n.826G>T | |
1 | g.247424095C>A | CA345555117 | NLRP3 | c.646C>A (p.Pro216Thr) c.511C>A (p.Pro171Thr) c.652C>A (p.Pro218Thr) n.827C>A | |
1 | g.247424095C>G | CA345555119 | NLRP3 | c.646C>G (p.Pro216Ala) c.511C>G (p.Pro171Ala) c.652C>G (p.Pro218Ala) n.827C>G | |
1 | g.247424095C>T | CA345555118 | NLRP3 | c.646C>T (p.Pro216Ser) c.511C>T (p.Pro171Ser) c.652C>T (p.Pro218Ser) n.827C>T | |
1 | g.247424096C>A | CA345555120 | NLRP3 | c.647C>A (p.Pro216His) c.512C>A (p.Pro171His) c.653C>A (p.Pro218His) n.828C>A | |
1 | g.247424096C= | CA1232097245 | NLRP3 | c.647C= (p.Pro216=) c.512C= (p.Pro171=) c.653C= (p.Pro218=) n.828C= | |
1 | g.247424096C>G | CA345555121 | NLRP3 | c.647C>G (p.Pro216Arg) c.512C>G (p.Pro171Arg) c.653C>G (p.Pro218Arg) n.828C>G | |
1 | g.247424096C>T | CA1494915 | NLRP3 | c.647C>T (p.Pro216Leu) c.512C>T (p.Pro171Leu) c.653C>T (p.Pro218Leu) n.828C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424097T>A | CA424573259 | NLRP3 | c.648T>A (p.Pro216=) c.513T>A (p.Pro171=) c.654T>A (p.Pro218=) n.829T>A | |
1 | g.247424097T>C | CA424573258 | NLRP3 | c.648T>C (p.Pro216=) c.513T>C (p.Pro171=) c.654T>C (p.Pro218=) n.829T>C | |
1 | g.247424097T>G | CA424573257 | NLRP3 | c.648T>G (p.Pro216=) c.513T>G (p.Pro171=) c.654T>G (p.Pro218=) n.829T>G | |
1 | g.247424098G>A | CA345555122 | NLRP3 | c.649G>A (p.Val217Met) c.514G>A (p.Val172Met) c.655G>A (p.Val219Met) n.830G>A | |
1 | g.247424098G>C | CA345555123 | NLRP3 | c.649G>C (p.Val217Leu) c.514G>C (p.Val172Leu) c.655G>C (p.Val219Leu) n.830G>C | |
1 | g.247424098G>T | CA345555124 | NLRP3 | c.649G>T (p.Val217Leu) c.514G>T (p.Val172Leu) c.655G>T (p.Val219Leu) n.830G>T | |
1 | g.247424099T>A | CA345555125 | NLRP3 | c.650T>A (p.Val217Glu) c.515T>A (p.Val172Glu) c.656T>A (p.Val219Glu) n.831T>A | |
1 | g.247424099T>C | CA345555126 | NLRP3 | c.650T>C (p.Val217Ala) c.515T>C (p.Val172Ala) c.656T>C (p.Val219Ala) n.831T>C | |
1 | g.247424099T>G | CA345555127 | NLRP3 | c.650T>G (p.Val217Gly) c.515T>G (p.Val172Gly) c.656T>G (p.Val219Gly) n.831T>G | |
1 | g.247424100G>A | CA424573260 | NLRP3 | c.651G>A (p.Val217=) c.516G>A (p.Val172=) c.657G>A (p.Val219=) n.832G>A | dbSNP |
1 | g.247424100G>C | CA1494916 | NLRP3 | c.651G>C (p.Val217=) c.516G>C (p.Val172=) c.657G>C (p.Val219=) n.832G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424100G= | CA1143492939 | NLRP3 | c.651G= (p.Val217=) c.516G= (p.Val172=) c.657G= (p.Val219=) n.832G= | |
1 | g.247424100G>T | CA424573261 | NLRP3 | c.651G>T (p.Val217=) c.516G>T (p.Val172=) c.657G>T (p.Val219=) n.832G>T | gnomAD v4 |
1 | g.247424101C>A | CA345555128 | NLRP3 | c.652C>A (p.His218Asn) c.517C>A (p.His173Asn) c.658C>A (p.His220Asn) n.833C>A | |
1 | g.247424101C= | CA1232097253 | NLRP3 | c.652C= (p.His218=) c.517C= (p.His173=) c.658C= (p.His220=) n.833C= | |
1 | g.247424101C>G | CA345555129 | NLRP3 | c.652C>G (p.His218Asp) c.517C>G (p.His173Asp) c.658C>G (p.His220Asp) n.833C>G | |
1 | g.247424101C>T | CA1494917 | NLRP3 | c.652C>T (p.His218Tyr) c.517C>T (p.His173Tyr) c.658C>T (p.His220Tyr) n.833C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424102_247424105dup | CA2574453906 | NLRP3 | c.653_656dup (p.Val220HisfsTer?) c.518_521dup (p.Val175HisfsTer?) c.659_662dup (p.Val222HisfsTer?) n.834_837dup | |
1 | g.247424102A= | CA1232097255 | NLRP3 | c.653A= (p.His218=) c.518A= (p.His173=) c.659A= (p.His220=) n.834A= | |
1 | g.247424102A>C | CA345555130 | NLRP3 | c.653A>C (p.His218Pro) c.518A>C (p.His173Pro) c.659A>C (p.His220Pro) n.834A>C | gnomAD v4 |
1 | g.247424102A>G | CA345555131 | NLRP3 | c.653A>G (p.His218Arg) c.518A>G (p.His173Arg) c.659A>G (p.His220Arg) n.834A>G | |
1 | g.247424102A>T | CA40690669 | NLRP3 | c.653A>T (p.His218Leu) c.518A>T (p.His173Leu) c.659A>T (p.His220Leu) n.834A>T | dbSNP |
1 | g.247424103C>A | CA345555132 | NLRP3 | c.654C>A (p.His218Gln) c.519C>A (p.His173Gln) c.660C>A (p.His220Gln) n.835C>A | |
1 | g.247424103C= | CA1232097258 | NLRP3 | c.654C= (p.His218=) c.519C= (p.His173=) c.660C= (p.His220=) n.835C= | |
1 | g.247424103C>G | CA345555133 | NLRP3 | c.654C>G (p.His218Gln) c.519C>G (p.His173Gln) c.660C>G (p.His220Gln) n.835C>G | dbSNP gnomAD v2 |
1 | g.247424103C>T | CA424573262 | NLRP3 | c.654C>T (p.His218=) c.519C>T (p.His173=) c.660C>T (p.His220=) n.835C>T | |
1 | g.247424104A>C | CA345555134 | NLRP3 | c.655A>C (p.Thr219Pro) c.520A>C (p.Thr174Pro) c.661A>C (p.Thr221Pro) n.836A>C | gnomAD v4 |
1 | g.247424104A>G | CA345555135 | NLRP3 | c.655A>G (p.Thr219Ala) c.520A>G (p.Thr174Ala) c.661A>G (p.Thr221Ala) n.836A>G | |
1 | g.247424104A>T | CA345555136 | NLRP3 | c.655A>T (p.Thr219Ser) c.520A>T (p.Thr174Ser) c.661A>T (p.Thr221Ser) n.836A>T | |
1 | g.247424105C>A | CA345555137 | NLRP3 | c.656C>A (p.Thr219Asn) c.521C>A (p.Thr174Asn) c.662C>A (p.Thr221Asn) n.837C>A | |
1 | g.247424105C= | CA1232097263 | NLRP3 | c.656C= (p.Thr219=) c.521C= (p.Thr174=) c.662C= (p.Thr221=) n.837C= | |
1 | g.247424105C>G | CA345555138 | NLRP3 | c.656C>G (p.Thr219Ser) c.521C>G (p.Thr174Ser) c.662C>G (p.Thr221Ser) n.837C>G | |
1 | g.247424105C>T | CA345555139 | NLRP3 | c.656C>T (p.Thr219Ile) c.521C>T (p.Thr174Ile) c.662C>T (p.Thr221Ile) n.837C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424106del | CA2651425081 | NLRP3 | c.657del (p.Val220TrpfsTer18) c.522del (p.Val175TrpfsTer18) c.663del (p.Val222TrpfsTer18) n.838del | gnomAD v4 |
1 | g.247424106C>A | CA424573263 | NLRP3 | c.657C>A (p.Thr219=) c.522C>A (p.Thr174=) c.663C>A (p.Thr221=) n.838C>A | gnomAD v4 |
1 | g.247424106C= | CA1140134531 | NLRP3 | c.657C= (p.Thr219=) c.522C= (p.Thr174=) c.663C= (p.Thr221=) n.838C= | |
1 | g.247424106C>G | CA1494919 | NLRP3 | c.657C>G (p.Thr219=) c.522C>G (p.Thr174=) c.663C>G (p.Thr221=) n.838C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424106C>T | CA1494918 | NLRP3 | c.657C>T (p.Thr219=) c.522C>T (p.Thr174=) c.663C>T (p.Thr221=) n.838C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424107G>A | CA345555140 | NLRP3 | c.658G>A (p.Val220Met) c.523G>A (p.Val175Met) c.664G>A (p.Val222Met) n.839G>A | gnomAD v4 |
1 | g.247424107G>C | CA345555141 | NLRP3 | c.658G>C (p.Val220Leu) c.523G>C (p.Val175Leu) c.664G>C (p.Val222Leu) n.839G>C | |
1 | g.247424107G>T | CA345555142 | NLRP3 | c.658G>T (p.Val220Leu) c.523G>T (p.Val175Leu) c.664G>T (p.Val222Leu) n.839G>T | |
1 | g.247424108T>A | CA345555145 | NLRP3 | c.659T>A (p.Val220Glu) c.524T>A (p.Val175Glu) c.665T>A (p.Val222Glu) n.840T>A | |
1 | g.247424108T>C | CA345555144 | NLRP3 | c.659T>C (p.Val220Ala) c.524T>C (p.Val175Ala) c.665T>C (p.Val222Ala) n.840T>C | |
1 | g.247424108T>G | CA345555143 | NLRP3 | c.659T>G (p.Val220Gly) c.524T>G (p.Val175Gly) c.665T>G (p.Val222Gly) n.840T>G | |
1 | g.247424109G>A | CA424573264 | NLRP3 | c.660G>A (p.Val220=) c.525G>A (p.Val175=) c.666G>A (p.Val222=) n.841G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424109G>C | CA424573265 | NLRP3 | c.660G>C (p.Val220=) c.525G>C (p.Val175=) c.666G>C (p.Val222=) n.841G>C | |
1 | g.247424109G= | CA1232097274 | NLRP3 | c.660G= (p.Val220=) c.525G= (p.Val175=) c.666G= (p.Val222=) n.841G= | |
1 | g.247424109G>T | CA424573266 | NLRP3 | c.660G>T (p.Val220=) c.525G>T (p.Val175=) c.666G>T (p.Val222=) n.841G>T | |
1 | g.247424110G>A | CA345555148 | NLRP3 | c.661G>A (p.Val221Met) c.526G>A (p.Val176Met) c.667G>A (p.Val223Met) n.842G>A | |
1 | g.247424110G>C | CA345555146 | NLRP3 | c.661G>C (p.Val221Leu) c.526G>C (p.Val176Leu) c.667G>C (p.Val223Leu) n.842G>C | |
1 | g.247424110G>T | CA345555147 | NLRP3 | c.661G>T (p.Val221Leu) c.526G>T (p.Val176Leu) c.667G>T (p.Val223Leu) n.842G>T | |
1 | g.247424111T>A | CA345555149 | NLRP3 | c.662T>A (p.Val221Glu) c.527T>A (p.Val176Glu) c.668T>A (p.Val223Glu) n.843T>A | |
1 | g.247424111T>C | CA345555150 | NLRP3 | c.662T>C (p.Val221Ala) c.527T>C (p.Val176Ala) c.668T>C (p.Val223Ala) n.843T>C | |
1 | g.247424111T>G | CA345555151 | NLRP3 | c.662T>G (p.Val221Gly) c.527T>G (p.Val176Gly) c.668T>G (p.Val223Gly) n.843T>G | |
1 | g.247424112G>A | CA424573267 | NLRP3 | c.663G>A (p.Val221=) c.528G>A (p.Val176=) c.669G>A (p.Val223=) n.844G>A | |
1 | g.247424112G>C | CA424573268 | NLRP3 | c.663G>C (p.Val221=) c.528G>C (p.Val176=) c.669G>C (p.Val223=) n.844G>C | |
1 | g.247424112G>T | CA424573269 | NLRP3 | c.663G>T (p.Val221=) c.528G>T (p.Val176=) c.669G>T (p.Val223=) n.844G>T | |
1 | g.247424113T>A | CA345555152 | NLRP3 | c.664T>A (p.Phe222Ile) c.529T>A (p.Phe177Ile) c.670T>A (p.Phe224Ile) n.845T>A | |
1 | g.247424113T>C | CA345555153 | NLRP3 | c.664T>C (p.Phe222Leu) c.529T>C (p.Phe177Leu) c.670T>C (p.Phe224Leu) n.845T>C | |
1 | g.247424113T>G | CA345555154 | NLRP3 | c.664T>G (p.Phe222Val) c.529T>G (p.Phe177Val) c.670T>G (p.Phe224Val) n.845T>G | |
1 | g.247424114T>A | CA345555155 | NLRP3 | c.665T>A (p.Phe222Tyr) c.530T>A (p.Phe177Tyr) c.671T>A (p.Phe224Tyr) n.846T>A | |
1 | g.247424114T>C | CA345555156 | NLRP3 | c.665T>C (p.Phe222Ser) c.530T>C (p.Phe177Ser) c.671T>C (p.Phe224Ser) n.846T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424114T>G | CA345555157 | NLRP3 | c.665T>G (p.Phe222Cys) c.530T>G (p.Phe177Cys) c.671T>G (p.Phe224Cys) n.846T>G | |
1 | g.247424114T= | CA1232097277 | NLRP3 | c.665T= (p.Phe222=) c.530T= (p.Phe177=) c.671T= (p.Phe224=) n.846T= | |
1 | g.247424115C>A | CA345555158 | NLRP3 | c.666C>A (p.Phe222Leu) c.531C>A (p.Phe177Leu) c.672C>A (p.Phe224Leu) n.847C>A | |
1 | g.247424115C>G | CA345555159 | NLRP3 | c.666C>G (p.Phe222Leu) c.531C>G (p.Phe177Leu) c.672C>G (p.Phe224Leu) n.847C>G | |
1 | g.247424115C>T | CA424573270 | NLRP3 | c.666C>T (p.Phe222=) c.531C>T (p.Phe177=) c.672C>T (p.Phe224=) n.847C>T | gnomAD v4 |
1 | g.247424116C>A | CA345555162 | NLRP3 | c.667C>A (p.Gln223Lys) c.532C>A (p.Gln178Lys) c.673C>A (p.Gln225Lys) n.848C>A | |
1 | g.247424116C>G | CA345555160 | NLRP3 | c.667C>G (p.Gln223Glu) c.532C>G (p.Gln178Glu) c.673C>G (p.Gln225Glu) n.848C>G | |
1 | g.247424116C>T | CA345555161 | NLRP3 | c.667C>T (p.Gln223Ter) c.532C>T (p.Gln178Ter) c.673C>T (p.Gln225Ter) n.848C>T | |
1 | g.247424117del | CA2651425100 | NLRP3 | c.668del (p.Gln223ArgfsTer15) c.533del (p.Gln178ArgfsTer15) c.674del (p.Gln225ArgfsTer15) n.849del | gnomAD v4 |
1 | g.247424117A>C | CA345555163 | NLRP3 | c.668A>C (p.Gln223Pro) c.533A>C (p.Gln178Pro) c.674A>C (p.Gln225Pro) n.849A>C | |
1 | g.247424117A>G | CA345555164 | NLRP3 | c.668A>G (p.Gln223Arg) c.533A>G (p.Gln178Arg) c.674A>G (p.Gln225Arg) n.849A>G | |
1 | g.247424117A>T | CA345555165 | NLRP3 | c.668A>T (p.Gln223Leu) c.533A>T (p.Gln178Leu) c.674A>T (p.Gln225Leu) n.849A>T | |
1 | g.247424118G>A | CA424573271 | NLRP3 | c.669G>A (p.Gln223=) c.534G>A (p.Gln178=) c.675G>A (p.Gln225=) n.850G>A | |
1 | g.247424118G>C | CA345555166 | NLRP3 | c.669G>C (p.Gln223His) c.534G>C (p.Gln178His) c.675G>C (p.Gln225His) n.850G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424118G= | CA1232097279 | NLRP3 | c.669G= (p.Gln223=) c.534G= (p.Gln178=) c.675G= (p.Gln225=) n.850G= | |
1 | g.247424118G>T | CA345555167 | NLRP3 | c.669G>T (p.Gln223His) c.534G>T (p.Gln178His) c.675G>T (p.Gln225His) n.850G>T | |
1 | g.247424122dup | CA2651425101 | NLRP3 | c.673dup (p.Ala225GlyfsTer28) c.538dup (p.Ala180GlyfsTer28) c.679dup (p.Ala227GlyfsTer28) n.854dup | gnomAD v4 |
1 | g.247424122del | CA424573272 | NLRP3 | c.673del (p.Ala225ArgfsTer13) c.538del (p.Ala180ArgfsTer13) c.679del (p.Ala227ArgfsTer13) n.854del | COSMIC |
1 | g.247424119G>A | CA345555168 | NLRP3 | c.670G>A (p.Gly224Arg) c.535G>A (p.Gly179Arg) c.676G>A (p.Gly226Arg) n.851G>A | gnomAD v4 |
1 | g.247424119G>C | CA345555169 | NLRP3 | c.670G>C (p.Gly224Arg) c.535G>C (p.Gly179Arg) c.676G>C (p.Gly226Arg) n.851G>C | |
1 | g.247424119G>T | CA345555170 | NLRP3 | c.670G>T (p.Gly224Trp) c.535G>T (p.Gly179Trp) c.676G>T (p.Gly226Trp) n.851G>T | |
1 | g.247424120G>A | CA345555171 | NLRP3 | c.671G>A (p.Gly224Glu) c.536G>A (p.Gly179Glu) c.677G>A (p.Gly226Glu) n.852G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424120G>C | CA345555172 | NLRP3 | c.671G>C (p.Gly224Ala) c.536G>C (p.Gly179Ala) c.677G>C (p.Gly226Ala) n.852G>C | COSMIC |
1 | g.247424120G= | CA1232097283 | NLRP3 | c.671G= (p.Gly224=) c.536G= (p.Gly179=) c.677G= (p.Gly226=) n.852G= | |
1 | g.247424120G>T | CA345555173 | NLRP3 | c.671G>T (p.Gly224Val) c.536G>T (p.Gly179Val) c.677G>T (p.Gly226Val) n.852G>T | |
1 | g.247424121G>A | CA424573273 | NLRP3 | c.672G>A (p.Gly224=) c.537G>A (p.Gly179=) c.678G>A (p.Gly226=) n.853G>A | dbSNP |
1 | g.247424121G>C | CA424573274 | NLRP3 | c.672G>C (p.Gly224=) c.537G>C (p.Gly179=) c.678G>C (p.Gly226=) n.853G>C | |
1 | g.247424121G= | CA1143412672 | NLRP3 | c.672G= (p.Gly224=) c.537G= (p.Gly179=) c.678G= (p.Gly226=) n.853G= | |
1 | g.247424121G>T | CA40690683 | NLRP3 | c.672G>T (p.Gly224=) c.537G>T (p.Gly179=) c.678G>T (p.Gly226=) n.853G>T | dbSNP |
1 | g.247424122G>A | CA345555175 | NLRP3 | c.673G>A (p.Ala225Thr) c.538G>A (p.Ala180Thr) c.679G>A (p.Ala227Thr) n.854G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424122G>C | CA345555176 | NLRP3 | c.673G>C (p.Ala225Pro) c.538G>C (p.Ala180Pro) c.679G>C (p.Ala227Pro) n.854G>C | |
1 | g.247424122G= | CA1232097286 | NLRP3 | c.673G= (p.Ala225=) c.538G= (p.Ala180=) c.679G= (p.Ala227=) n.854G= | |
1 | g.247424122G>T | CA345555174 | NLRP3 | c.673G>T (p.Ala225Ser) c.538G>T (p.Ala180Ser) c.679G>T (p.Ala227Ser) n.854G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424123C>A | CA345555177 | NLRP3 | c.674C>A (p.Ala225Glu) c.539C>A (p.Ala180Glu) c.680C>A (p.Ala227Glu) n.855C>A | COSMIC |
1 | g.247424123C= | CA1142421373 | NLRP3 | c.674C= (p.Ala225=) c.539C= (p.Ala180=) c.680C= (p.Ala227=) n.855C= | |
1 | g.247424123C>G | CA345555178 | NLRP3 | c.674C>G (p.Ala225Gly) c.539C>G (p.Ala180Gly) c.680C>G (p.Ala227Gly) n.855C>G | |
1 | g.247424123C>T | CA281339 | NLRP3 | c.674C>T (p.Ala225Val) c.539C>T (p.Ala180Val) c.680C>T (p.Ala227Val) n.855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |