Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424594A>C | CA345556186 | NLRP3 | c.1145A>C (p.Lys382Thr) c.1010A>C (p.Lys337Thr) c.1151A>C (p.Lys384Thr) n.1326A>C | |
1 | g.247424594A>G | CA345556187 | NLRP3 | c.1145A>G (p.Lys382Arg) c.1010A>G (p.Lys337Arg) c.1151A>G (p.Lys384Arg) n.1326A>G | |
1 | g.247424594A>T | CA345556188 | NLRP3 | c.1145A>T (p.Lys382Met) c.1010A>T (p.Lys337Met) c.1151A>T (p.Lys384Met) n.1326A>T | |
1 | g.247424595G>A | CA424582575 | NLRP3 | c.1146G>A (p.Lys382=) c.1011G>A (p.Lys337=) c.1152G>A (p.Lys384=) n.1327G>A | ClinVar dbSNP gnomAD v4 |
1 | g.247424595G>C | CA345556189 | NLRP3 | c.1146G>C (p.Lys382Asn) c.1011G>C (p.Lys337Asn) c.1152G>C (p.Lys384Asn) n.1327G>C | |
1 | g.247424595G= | CA1232098005 | NLRP3 | c.1146G= (p.Lys382=) c.1011G= (p.Lys337=) c.1152G= (p.Lys384=) n.1327G= | |
1 | g.247424595G>T | CA345556190 | NLRP3 | c.1146G>T (p.Lys382Asn) c.1011G>T (p.Lys337Asn) c.1152G>T (p.Lys384Asn) n.1327G>T | |
1 | g.247424595_247424596delinsAG | CA645531683 | NLRP3 | c.1146_1147delinsAG (p.Tyr383Asp) c.1011_1012delinsAG (p.Tyr338Asp) c.1152_1153delinsAG (p.Tyr385Asp) n.1327_1328delinsAG | COSMIC |
1 | g.247424596T>A | CA345556192 | NLRP3 | c.1147T>A (p.Tyr383Asn) c.1012T>A (p.Tyr338Asn) c.1153T>A (p.Tyr385Asn) n.1328T>A | |
1 | g.247424596T>C | CA345556193 | NLRP3 | c.1147T>C (p.Tyr383His) c.1012T>C (p.Tyr338His) c.1153T>C (p.Tyr385His) n.1328T>C | |
1 | g.247424596T>G | CA345556191 | NLRP3 | c.1147T>G (p.Tyr383Asp) c.1012T>G (p.Tyr338Asp) c.1153T>G (p.Tyr385Asp) n.1328T>G | |
1 | g.247424597A>C | CA345556194 | NLRP3 | c.1148A>C (p.Tyr383Ser) c.1013A>C (p.Tyr338Ser) c.1154A>C (p.Tyr385Ser) n.1329A>C | |
1 | g.247424597A>G | CA345556196 | NLRP3 | c.1148A>G (p.Tyr383Cys) c.1013A>G (p.Tyr338Cys) c.1154A>G (p.Tyr385Cys) n.1329A>G | |
1 | g.247424597A>T | CA345556195 | NLRP3 | c.1148A>T (p.Tyr383Phe) c.1013A>T (p.Tyr338Phe) c.1154A>T (p.Tyr385Phe) n.1329A>T | |
1 | g.247424598C>A | CA345556197 | NLRP3 | c.1149C>A (p.Tyr383Ter) c.1014C>A (p.Tyr338Ter) c.1155C>A (p.Tyr385Ter) n.1330C>A | |
1 | g.247424598C= | CA1232098010 | NLRP3 | c.1149C= (p.Tyr383=) c.1014C= (p.Tyr338=) c.1155C= (p.Tyr385=) n.1330C= | |
1 | g.247424598C>G | CA345556198 | NLRP3 | c.1149C>G (p.Tyr383Ter) c.1014C>G (p.Tyr338Ter) c.1155C>G (p.Tyr385Ter) n.1330C>G | |
1 | g.247424598C>T | CA1494988 | NLRP3 | c.1149C>T (p.Tyr383=) c.1014C>T (p.Tyr338=) c.1155C>T (p.Tyr385=) n.1330C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424599T>A | CA345556199 | NLRP3 | c.1150T>A (p.Phe384Ile) c.1015T>A (p.Phe339Ile) c.1156T>A (p.Phe386Ile) n.1331T>A | |
1 | g.247424599T>C | CA345556200 | NLRP3 | c.1150T>C (p.Phe384Leu) c.1015T>C (p.Phe339Leu) c.1156T>C (p.Phe386Leu) n.1331T>C | dbSNP |
1 | g.247424599T>G | CA345556201 | NLRP3 | c.1150T>G (p.Phe384Val) c.1015T>G (p.Phe339Val) c.1156T>G (p.Phe386Val) n.1331T>G | |
1 | g.247424599T= | CA1232098012 | NLRP3 | c.1150T= (p.Phe384=) c.1015T= (p.Phe339=) c.1156T= (p.Phe386=) n.1331T= | |
1 | g.247424600T>A | CA345556202 | NLRP3 | c.1151T>A (p.Phe384Tyr) c.1016T>A (p.Phe339Tyr) c.1157T>A (p.Phe386Tyr) n.1332T>A | |
1 | g.247424600T>C | CA345556203 | NLRP3 | c.1151T>C (p.Phe384Ser) c.1016T>C (p.Phe339Ser) c.1157T>C (p.Phe386Ser) n.1332T>C | |
1 | g.247424600T>G | CA345556204 | NLRP3 | c.1151T>G (p.Phe384Cys) c.1016T>G (p.Phe339Cys) c.1157T>G (p.Phe386Cys) n.1332T>G | |
1 | g.247424601C>A | CA345556205 | NLRP3 | c.1152C>A (p.Phe384Leu) c.1017C>A (p.Phe339Leu) c.1158C>A (p.Phe386Leu) n.1333C>A | |
1 | g.247424601C>G | CA345556206 | NLRP3 | c.1152C>G (p.Phe384Leu) c.1017C>G (p.Phe339Leu) c.1158C>G (p.Phe386Leu) n.1333C>G | |
1 | g.247424601C>T | CA424582582 | NLRP3 | c.1152C>T (p.Phe384=) c.1017C>T (p.Phe339=) c.1158C>T (p.Phe386=) n.1333C>T | |
1 | g.247424602T>A | CA345556207 | NLRP3 | c.1153T>A (p.Ser385Thr) c.1018T>A (p.Ser340Thr) c.1159T>A (p.Ser387Thr) n.1334T>A | |
1 | g.247424602T>C | CA1494989 | NLRP3 | c.1153T>C (p.Ser385Pro) c.1018T>C (p.Ser340Pro) c.1159T>C (p.Ser387Pro) n.1334T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424602T>G | CA40691525 | NLRP3 | c.1153T>G (p.Ser385Ala) c.1018T>G (p.Ser340Ala) c.1159T>G (p.Ser387Ala) n.1334T>G | ClinVar dbSNP gnomAD v4 |
1 | g.247424602T= | CA1143367903 | NLRP3 | c.1153T= (p.Ser385=) c.1018T= (p.Ser340=) c.1159T= (p.Ser387=) n.1334T= | |
1 | g.247424603C>A | CA345556208 | NLRP3 | c.1154C>A (p.Ser385Tyr) c.1019C>A (p.Ser340Tyr) c.1160C>A (p.Ser387Tyr) n.1335C>A | |
1 | g.247424603C= | CA1232098016 | NLRP3 | c.1154C= (p.Ser385=) c.1019C= (p.Ser340=) c.1160C= (p.Ser387=) n.1335C= | |
1 | g.247424603C>G | CA345556209 | NLRP3 | c.1154C>G (p.Ser385Cys) c.1019C>G (p.Ser340Cys) c.1160C>G (p.Ser387Cys) n.1335C>G | gnomAD v4 |
1 | g.247424603C>T | CA40691533 | NLRP3 | c.1154C>T (p.Ser385Phe) c.1019C>T (p.Ser340Phe) c.1160C>T (p.Ser387Phe) n.1335C>T | dbSNP gnomAD v4 |
1 | g.247424604T>A | CA424582584 | NLRP3 | c.1155T>A (p.Ser385=) c.1020T>A (p.Ser340=) c.1161T>A (p.Ser387=) n.1336T>A | |
1 | g.247424604T>C | CA424582586 | NLRP3 | c.1155T>C (p.Ser385=) c.1020T>C (p.Ser340=) c.1161T>C (p.Ser387=) n.1336T>C | |
1 | g.247424604T>G | CA424582585 | NLRP3 | c.1155T>G (p.Ser385=) c.1020T>G (p.Ser340=) c.1161T>G (p.Ser387=) n.1336T>G | |
1 | g.247424605G>A | CA345556210 | NLRP3 | c.1156G>A (p.Asp386Asn) c.1021G>A (p.Asp341Asn) c.1162G>A (p.Asp388Asn) n.1337G>A | |
1 | g.247424605G>C | CA345556211 | NLRP3 | c.1156G>C (p.Asp386His) c.1021G>C (p.Asp341His) c.1162G>C (p.Asp388His) n.1337G>C | |
1 | g.247424605G>T | CA345556212 | NLRP3 | c.1156G>T (p.Asp386Tyr) c.1021G>T (p.Asp341Tyr) c.1162G>T (p.Asp388Tyr) n.1337G>T | |
1 | g.247424606A>C | CA345556213 | NLRP3 | c.1157A>C (p.Asp386Ala) c.1022A>C (p.Asp341Ala) c.1163A>C (p.Asp388Ala) n.1338A>C | |
1 | g.247424606A>G | CA345556214 | NLRP3 | c.1157A>G (p.Asp386Gly) c.1022A>G (p.Asp341Gly) c.1163A>G (p.Asp388Gly) n.1338A>G | |
1 | g.247424606A>T | CA345556215 | NLRP3 | c.1157A>T (p.Asp386Val) c.1022A>T (p.Asp341Val) c.1163A>T (p.Asp388Val) n.1338A>T | |
1 | g.247424607T>A | CA1494990 | NLRP3 | c.1158T>A (p.Asp386Glu) c.1023T>A (p.Asp341Glu) c.1164T>A (p.Asp388Glu) n.1339T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424607T>C | CA424582592 | NLRP3 | c.1158T>C (p.Asp386=) c.1023T>C (p.Asp341=) c.1164T>C (p.Asp388=) n.1339T>C | |
1 | g.247424607T>G | CA345556216 | NLRP3 | c.1158T>G (p.Asp386Glu) c.1023T>G (p.Asp341Glu) c.1164T>G (p.Asp388Glu) n.1339T>G | dbSNP |
1 | g.247424607T= | CA1232098022 | NLRP3 | c.1158T= (p.Asp386=) c.1023T= (p.Asp341=) c.1164T= (p.Asp388=) n.1339T= | |
1 | g.247424608G>A | CA345556218 | NLRP3 | c.1159G>A (p.Glu387Lys) c.1024G>A (p.Glu342Lys) c.1165G>A (p.Glu389Lys) n.1340G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |