Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.247424124G>A | CA40690702 | NLRP3 | c.675G>A (p.Ala225=) c.540G>A (p.Ala180=) c.681G>A (p.Ala227=) n.856G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424124G>C | CA424573275 | NLRP3 | c.675G>C (p.Ala225=) c.540G>C (p.Ala180=) c.681G>C (p.Ala227=) n.856G>C | gnomAD v4 |
1 | g.247424124G= | CA1232097297 | NLRP3 | c.675G= (p.Ala225=) c.540G= (p.Ala180=) c.681G= (p.Ala227=) n.856G= | |
1 | g.247424124G>T | CA424573276 | NLRP3 | c.675G>T (p.Ala225=) c.540G>T (p.Ala180=) c.681G>T (p.Ala227=) n.856G>T | |
1 | g.247424125G>A | CA345555179 | NLRP3 | c.676G>A (p.Ala226Thr) c.541G>A (p.Ala181Thr) c.682G>A (p.Ala228Thr) n.857G>A | |
1 | g.247424125G>C | CA345555180 | NLRP3 | c.676G>C (p.Ala226Pro) c.541G>C (p.Ala181Pro) c.682G>C (p.Ala228Pro) n.857G>C | |
1 | g.247424125G>T | CA345555181 | NLRP3 | c.676G>T (p.Ala226Ser) c.541G>T (p.Ala181Ser) c.682G>T (p.Ala228Ser) n.857G>T | gnomAD v4 |
1 | g.247424126C>A | CA345555182 | NLRP3 | c.677C>A (p.Ala226Glu) c.542C>A (p.Ala181Glu) c.683C>A (p.Ala228Glu) n.858C>A | |
1 | g.247424126C>G | CA345555183 | NLRP3 | c.677C>G (p.Ala226Gly) c.542C>G (p.Ala181Gly) c.683C>G (p.Ala228Gly) n.858C>G | |
1 | g.247424126C>T | CA345555184 | NLRP3 | c.677C>T (p.Ala226Val) c.542C>T (p.Ala181Val) c.683C>T (p.Ala228Val) n.858C>T | |
1 | g.247424127A>C | CA424573277 | NLRP3 | c.678A>C (p.Ala226=) c.543A>C (p.Ala181=) c.684A>C (p.Ala228=) n.859A>C | |
1 | g.247424127A>G | CA424573278 | NLRP3 | c.678A>G (p.Ala226=) c.543A>G (p.Ala181=) c.684A>G (p.Ala228=) n.859A>G | |
1 | g.247424127A>T | CA424573279 | NLRP3 | c.678A>T (p.Ala226=) c.543A>T (p.Ala181=) c.684A>T (p.Ala228=) n.859A>T | |
1 | g.247424128G>A | CA345555185 | NLRP3 | c.679G>A (p.Gly227Arg) c.544G>A (p.Gly182Arg) c.685G>A (p.Gly229Arg) n.860G>A | |
1 | g.247424128G>C | CA345555186 | NLRP3 | c.679G>C (p.Gly227Arg) c.544G>C (p.Gly182Arg) c.685G>C (p.Gly229Arg) n.860G>C | |
1 | g.247424128G>T | CA345555187 | NLRP3 | c.679G>T (p.Gly227Trp) c.544G>T (p.Gly182Trp) c.685G>T (p.Gly229Trp) n.860G>T | |
1 | g.247424129G>A | CA345555188 | NLRP3 | c.680G>A (p.Gly227Glu) c.545G>A (p.Gly182Glu) c.686G>A (p.Gly229Glu) n.861G>A | |
1 | g.247424129G>C | CA345555189 | NLRP3 | c.680G>C (p.Gly227Ala) c.545G>C (p.Gly182Ala) c.686G>C (p.Gly229Ala) n.861G>C | |
1 | g.247424129G>T | CA345555190 | NLRP3 | c.680G>T (p.Gly227Val) c.545G>T (p.Gly182Val) c.686G>T (p.Gly229Val) n.861G>T | |
1 | g.247424130G>A | CA40690705 | NLRP3 | c.681G>A (p.Gly227=) c.546G>A (p.Gly182=) c.687G>A (p.Gly229=) n.862G>A | dbSNP |
1 | g.247424130G>C | CA424573378 | NLRP3 | c.681G>C (p.Gly227=) c.546G>C (p.Gly182=) c.687G>C (p.Gly229=) n.862G>C | |
1 | g.247424130G= | CA1232097305 | NLRP3 | c.681G= (p.Gly227=) c.546G= (p.Gly182=) c.687G= (p.Gly229=) n.862G= | |
1 | g.247424130G>T | CA1494920 | NLRP3 | c.681G>T (p.Gly227=) c.546G>T (p.Gly182=) c.687G>T (p.Gly229=) n.862G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424131A>C | CA345555191 | NLRP3 | c.682A>C (p.Ile228Leu) c.547A>C (p.Ile183Leu) c.688A>C (p.Ile230Leu) n.863A>C | |
1 | g.247424131A>G | CA345555192 | NLRP3 | c.682A>G (p.Ile228Val) c.547A>G (p.Ile183Val) c.688A>G (p.Ile230Val) n.863A>G | gnomAD v4 |
1 | g.247424131A>T | CA345555193 | NLRP3 | c.682A>T (p.Ile228Phe) c.547A>T (p.Ile183Phe) c.688A>T (p.Ile230Phe) n.863A>T | |
1 | g.247424132T>A | CA345555194 | NLRP3 | c.683T>A (p.Ile228Asn) c.548T>A (p.Ile183Asn) c.689T>A (p.Ile230Asn) n.864T>A | |
1 | g.247424132T>C | CA345555195 | NLRP3 | c.683T>C (p.Ile228Thr) c.548T>C (p.Ile183Thr) c.689T>C (p.Ile230Thr) n.864T>C | |
1 | g.247424132T>G | CA345555196 | NLRP3 | c.683T>G (p.Ile228Ser) c.548T>G (p.Ile183Ser) c.689T>G (p.Ile230Ser) n.864T>G | COSMIC |
1 | g.247424133T>A | CA424573379 | NLRP3 | c.684T>A (p.Ile228=) c.549T>A (p.Ile183=) c.690T>A (p.Ile230=) n.865T>A | |
1 | g.247424133T>C | CA424573380 | NLRP3 | c.684T>C (p.Ile228=) c.549T>C (p.Ile183=) c.690T>C (p.Ile230=) n.865T>C | |
1 | g.247424133T>G | CA345555197 | NLRP3 | c.684T>G (p.Ile228Met) c.549T>G (p.Ile183Met) c.690T>G (p.Ile230Met) n.865T>G | |
1 | g.247424134G>A | CA345555198 | NLRP3 | c.685G>A (p.Gly229Arg) c.550G>A (p.Gly184Arg) c.691G>A (p.Gly231Arg) n.866G>A | COSMIC |
1 | g.247424134G>C | CA345555199 | NLRP3 | c.685G>C (p.Gly229Arg) c.550G>C (p.Gly184Arg) c.691G>C (p.Gly231Arg) n.866G>C | gnomAD v4 |
1 | g.247424134G>T | CA345555200 | NLRP3 | c.685G>T (p.Gly229Trp) c.550G>T (p.Gly184Trp) c.691G>T (p.Gly231Trp) n.866G>T | |
1 | g.247424135G>A | CA345555202 | NLRP3 | c.686G>A (p.Gly229Glu) c.551G>A (p.Gly184Glu) c.692G>A (p.Gly231Glu) n.867G>A | |
1 | g.247424135G>C | CA345555203 | NLRP3 | c.686G>C (p.Gly229Ala) c.551G>C (p.Gly184Ala) c.692G>C (p.Gly231Ala) n.867G>C | |
1 | g.247424135G>T | CA345555201 | NLRP3 | c.686G>T (p.Gly229Val) c.551G>T (p.Gly184Val) c.692G>T (p.Gly231Val) n.867G>T | |
1 | g.247424136G>A | CA424573383 | NLRP3 | c.687G>A (p.Gly229=) c.552G>A (p.Gly184=) c.693G>A (p.Gly231=) n.868G>A | COSMIC |
1 | g.247424136G>C | CA424573381 | NLRP3 | c.687G>C (p.Gly229=) c.552G>C (p.Gly184=) c.693G>C (p.Gly231=) n.868G>C | |
1 | g.247424136G>T | CA424573382 | NLRP3 | c.687G>T (p.Gly229=) c.552G>T (p.Gly184=) c.693G>T (p.Gly231=) n.868G>T | |
1 | g.247424137A>C | CA345555204 | NLRP3 | c.688A>C (p.Lys230Gln) c.553A>C (p.Lys185Gln) c.694A>C (p.Lys232Gln) n.869A>C | |
1 | g.247424137A>G | CA345555205 | NLRP3 | c.688A>G (p.Lys230Glu) c.553A>G (p.Lys185Glu) c.694A>G (p.Lys232Glu) n.869A>G | |
1 | g.247424137A>T | CA345555206 | NLRP3 | c.688A>T (p.Lys230Ter) c.553A>T (p.Lys185Ter) c.694A>T (p.Lys232Ter) n.869A>T | gnomAD v4 |
1 | g.247424138A>C | CA345555207 | NLRP3 | c.689A>C (p.Lys230Thr) c.554A>C (p.Lys185Thr) c.695A>C (p.Lys232Thr) n.870A>C | |
1 | g.247424138A>G | CA345555208 | NLRP3 | c.689A>G (p.Lys230Arg) c.554A>G (p.Lys185Arg) c.695A>G (p.Lys232Arg) n.870A>G | |
1 | g.247424138A>T | CA345555209 | NLRP3 | c.689A>T (p.Lys230Ile) c.554A>T (p.Lys185Ile) c.695A>T (p.Lys232Ile) n.870A>T | |
1 | g.247424139A= | CA1232097310 | NLRP3 | c.690A= (p.Lys230=) c.555A= (p.Lys185=) c.696A= (p.Lys232=) n.871A= | |
1 | g.247424139A>C | CA345555210 | NLRP3 | c.690A>C (p.Lys230Asn) c.555A>C (p.Lys185Asn) c.696A>C (p.Lys232Asn) n.871A>C | |
1 | g.247424139A>G | CA424573384 | NLRP3 | c.690A>G (p.Lys230=) c.555A>G (p.Lys185=) c.696A>G (p.Lys232=) n.871A>G | dbSNP |
1 | g.247424139A>T | CA345555211 | NLRP3 | c.690A>T (p.Lys230Asn) c.555A>T (p.Lys185Asn) c.696A>T (p.Lys232Asn) n.871A>T | |
1 | g.247424140A>C | CA345555212 | NLRP3 | c.691A>C (p.Thr231Pro) c.556A>C (p.Thr186Pro) c.697A>C (p.Thr233Pro) n.872A>C | |
1 | g.247424140A>G | CA345555213 | NLRP3 | c.691A>G (p.Thr231Ala) c.556A>G (p.Thr186Ala) c.697A>G (p.Thr233Ala) n.872A>G | |
1 | g.247424140A>T | CA345555214 | NLRP3 | c.691A>T (p.Thr231Ser) c.556A>T (p.Thr186Ser) c.697A>T (p.Thr233Ser) n.872A>T | |
1 | g.247424140_247424141insAATG | CA2651425126 | NLRP3 | c.691_692insAATG (p.Thr231LysfsTer23) c.556_557insAATG (p.Thr186LysfsTer23) c.697_698insAATG (p.Thr233LysfsTer23) n.872_873insAATG | gnomAD v4 |
1 | g.247424141C>A | CA345555216 | NLRP3 | c.692C>A (p.Thr231Lys) c.557C>A (p.Thr186Lys) c.698C>A (p.Thr233Lys) n.873C>A | |
1 | g.247424141C= | CA1232097312 | NLRP3 | c.692C= (p.Thr231=) c.557C= (p.Thr186=) c.698C= (p.Thr233=) n.873C= | |
1 | g.247424141C>G | CA345555217 | NLRP3 | c.692C>G (p.Thr231Arg) c.557C>G (p.Thr186Arg) c.698C>G (p.Thr233Arg) n.873C>G | |
1 | g.247424141C>T | CA345555215 | NLRP3 | c.692C>T (p.Thr231Ile) c.557C>T (p.Thr186Ile) c.698C>T (p.Thr233Ile) n.873C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424142A>C | CA424573385 | NLRP3 | c.693A>C (p.Thr231=) c.558A>C (p.Thr186=) c.699A>C (p.Thr233=) n.874A>C | |
1 | g.247424142A>G | CA424573386 | NLRP3 | c.693A>G (p.Thr231=) c.558A>G (p.Thr186=) c.699A>G (p.Thr233=) n.874A>G | |
1 | g.247424142A>T | CA424573387 | NLRP3 | c.693A>T (p.Thr231=) c.558A>T (p.Thr186=) c.699A>T (p.Thr233=) n.874A>T | gnomAD v4 |
1 | g.247424142_247424143insCGTGTTTCGA | CA2651425127 | NLRP3 | c.693_694insCGTGTTTCGA (p.Ile232ArgfsTer24) c.558_559insCGTGTTTCGA (p.Ile187ArgfsTer24) c.699_700insCGTGTTTCGA (p.Ile234ArgfsTer24) n.874_875insCGTGTTTCGA | gnomAD v4 |
1 | g.247424143A>C | CA345555218 | NLRP3 | c.694A>C (p.Ile232Leu) c.559A>C (p.Ile187Leu) c.700A>C (p.Ile234Leu) n.875A>C | |
1 | g.247424143A>G | CA345555219 | NLRP3 | c.694A>G (p.Ile232Val) c.559A>G (p.Ile187Val) c.700A>G (p.Ile234Val) n.875A>G | |
1 | g.247424143A>T | CA345555220 | NLRP3 | c.694A>T (p.Ile232Phe) c.559A>T (p.Ile187Phe) c.700A>T (p.Ile234Phe) n.875A>T | |
1 | g.247424144T>A | CA345555221 | NLRP3 | c.695T>A (p.Ile232Asn) c.560T>A (p.Ile187Asn) c.701T>A (p.Ile234Asn) n.876T>A | |
1 | g.247424144T>C | CA345555222 | NLRP3 | c.695T>C (p.Ile232Thr) c.560T>C (p.Ile187Thr) c.701T>C (p.Ile234Thr) n.876T>C | |
1 | g.247424144T>G | CA345555223 | NLRP3 | c.695T>G (p.Ile232Ser) c.560T>G (p.Ile187Ser) c.701T>G (p.Ile234Ser) n.876T>G | |
1 | g.247424145C>A | CA1494921 | NLRP3 | c.696C>A (p.Ile232=) c.561C>A (p.Ile187=) c.702C>A (p.Ile234=) n.877C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424145C= | CA1148407828 | NLRP3 | c.696C= (p.Ile232=) c.561C= (p.Ile187=) c.702C= (p.Ile234=) n.877C= | |
1 | g.247424145C>G | CA345555224 | NLRP3 | c.696C>G (p.Ile232Met) c.561C>G (p.Ile187Met) c.702C>G (p.Ile234Met) n.877C>G | |
1 | g.247424145C>T | CA424573388 | NLRP3 | c.696C>T (p.Ile232=) c.561C>T (p.Ile187=) c.702C>T (p.Ile234=) n.877C>T | COSMIC |
1 | g.247424146C>A | CA345555225 | NLRP3 | c.697C>A (p.Leu233Met) c.562C>A (p.Leu188Met) c.703C>A (p.Leu235Met) n.878C>A | |
1 | g.247424146C= | CA1232097318 | NLRP3 | c.697C= (p.Leu233=) c.562C= (p.Leu188=) c.703C= (p.Leu235=) n.878C= | |
1 | g.247424146C>G | CA345555226 | NLRP3 | c.697C>G (p.Leu233Val) c.562C>G (p.Leu188Val) c.703C>G (p.Leu235Val) n.878C>G | |
1 | g.247424146C>T | CA424573389 | NLRP3 | c.697C>T (p.Leu233=) c.562C>T (p.Leu188=) c.703C>T (p.Leu235=) n.878C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.247424146_247424147insCAC | CA2651425134 | NLRP3 | c.697_698insCAC (p.Ile232_Leu233insPro) c.562_563insCAC (p.Ile187_Leu188insPro) c.703_704insCAC (p.Ile234_Leu235insPro) n.878_879insCAC | gnomAD v4 |
1 | g.247424147T>A | CA1494922 | NLRP3 | c.698T>A (p.Leu233Gln) c.563T>A (p.Leu188Gln) c.704T>A (p.Leu235Gln) n.879T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424147T>C | CA345555227 | NLRP3 | c.698T>C (p.Leu233Pro) c.563T>C (p.Leu188Pro) c.704T>C (p.Leu235Pro) n.879T>C | |
1 | g.247424147T>G | CA345555228 | NLRP3 | c.698T>G (p.Leu233Arg) c.563T>G (p.Leu188Arg) c.704T>G (p.Leu235Arg) n.879T>G | |
1 | g.247424147T= | CA1232097322 | NLRP3 | c.698T= (p.Leu233=) c.563T= (p.Leu188=) c.704T= (p.Leu235=) n.879T= | |
1 | g.247424148G>A | CA281343 | NLRP3 | c.699G>A (p.Leu233=) c.564G>A (p.Leu188=) c.705G>A (p.Leu235=) n.880G>A | ClinVar dbSNP gnomAD v4 |
1 | g.247424148G>C | CA424573390 | NLRP3 | c.699G>C (p.Leu233=) c.564G>C (p.Leu188=) c.705G>C (p.Leu235=) n.880G>C | |
1 | g.247424148G= | CA1142421374 | NLRP3 | c.699G= (p.Leu233=) c.564G= (p.Leu188=) c.705G= (p.Leu235=) n.880G= | |
1 | g.247424148G>T | CA424573391 | NLRP3 | c.699G>T (p.Leu233=) c.564G>T (p.Leu188=) c.705G>T (p.Leu235=) n.880G>T | |
1 | g.247424148_247424149insTGATAT | CA2651425150 | NLRP3 | c.699_700insTGATAT c.564_565insTGATAT c.705_706insTGATAT n.880_881insTGATAT | gnomAD v4 |
1 | g.247424149G>A | CA345555231 | NLRP3 | c.700G>A (p.Ala234Thr) c.565G>A (p.Ala189Thr) c.706G>A (p.Ala236Thr) n.881G>A | ClinVar dbSNP COSMIC |
1 | g.247424149G>C | CA345555230 | NLRP3 | c.700G>C (p.Ala234Pro) c.565G>C (p.Ala189Pro) c.706G>C (p.Ala236Pro) n.881G>C | |
1 | g.247424149G= | CA1232097330 | NLRP3 | c.700G= (p.Ala234=) c.565G= (p.Ala189=) c.706G= (p.Ala236=) n.881G= | |
1 | g.247424149G>T | CA345555229 | NLRP3 | c.700G>T (p.Ala234Ser) c.565G>T (p.Ala189Ser) c.706G>T (p.Ala236Ser) n.881G>T | |
1 | g.247424150C>A | CA345555233 | NLRP3 | c.701C>A (p.Ala234Asp) c.566C>A (p.Ala189Asp) c.707C>A (p.Ala236Asp) n.882C>A | |
1 | g.247424150C>G | CA345555232 | NLRP3 | c.701C>G (p.Ala234Gly) c.566C>G (p.Ala189Gly) c.707C>G (p.Ala236Gly) n.882C>G | |
1 | g.247424150C>T | CA345555234 | NLRP3 | c.701C>T (p.Ala234Val) c.566C>T (p.Ala189Val) c.707C>T (p.Ala236Val) n.882C>T | |
1 | g.247424151C>A | CA424573394 | NLRP3 | c.702C>A (p.Ala234=) c.567C>A (p.Ala189=) c.708C>A (p.Ala236=) n.883C>A | |
1 | g.247424151C>G | CA424573392 | NLRP3 | c.702C>G (p.Ala234=) c.567C>G (p.Ala189=) c.708C>G (p.Ala236=) n.883C>G | |
1 | g.247424151C>T | CA424573393 | NLRP3 | c.702C>T (p.Ala234=) c.567C>T (p.Ala189=) c.708C>T (p.Ala236=) n.883C>T | |
1 | g.247424152A>C | CA424573395 | NLRP3 | c.703A>C (p.Arg235=) c.568A>C (p.Arg190=) c.709A>C (p.Arg237=) n.884A>C | |
1 | g.247424152A>G | CA345555235 | NLRP3 | c.703A>G (p.Arg235Gly) c.568A>G (p.Arg190Gly) c.709A>G (p.Arg237Gly) n.884A>G | |
1 | g.247424152A>T | CA345555236 | NLRP3 | c.703A>T (p.Arg235Trp) c.568A>T (p.Arg190Trp) c.709A>T (p.Arg237Trp) n.884A>T | |
1 | g.247424153G>A | CA345555237 | NLRP3 | c.704G>A (p.Arg235Lys) c.569G>A (p.Arg190Lys) c.710G>A (p.Arg237Lys) n.885G>A | |
1 | g.247424153G>C | CA345555238 | NLRP3 | c.704G>C (p.Arg235Thr) c.569G>C (p.Arg190Thr) c.710G>C (p.Arg237Thr) n.885G>C | |
1 | g.247424153G>T | CA345555239 | NLRP3 | c.704G>T (p.Arg235Met) c.569G>T (p.Arg190Met) c.710G>T (p.Arg237Met) n.885G>T | |
1 | g.247424154G>A | CA1494923 | NLRP3 | c.705G>A (p.Arg235=) c.570G>A (p.Arg190=) c.711G>A (p.Arg237=) n.886G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.247424154G>C | CA345555240 | NLRP3 | c.705G>C (p.Arg235Ser) c.570G>C (p.Arg190Ser) c.711G>C (p.Arg237Ser) n.886G>C | |
1 | g.247424154G= | CA1232097336 | NLRP3 | c.705G= (p.Arg235=) c.570G= (p.Arg190=) c.711G= (p.Arg237=) n.886G= | |
1 | g.247424154G>T | CA345555241 | NLRP3 | c.705G>T (p.Arg235Ser) c.570G>T (p.Arg190Ser) c.711G>T (p.Arg237Ser) n.886G>T | gnomAD v4 |
1 | g.247424155A>C | CA345555242 | NLRP3 | c.706A>C (p.Lys236Gln) c.571A>C (p.Lys191Gln) c.712A>C (p.Lys238Gln) n.887A>C | |
1 | g.247424155A>G | CA345555243 | NLRP3 | c.706A>G (p.Lys236Glu) c.571A>G (p.Lys191Glu) c.712A>G (p.Lys238Glu) n.887A>G | |
1 | g.247424155A>T | CA345555244 | NLRP3 | c.706A>T (p.Lys236Ter) c.571A>T (p.Lys191Ter) c.712A>T (p.Lys238Ter) n.887A>T | |
1 | g.247424156A>C | CA345555245 | NLRP3 | c.707A>C (p.Lys236Thr) c.572A>C (p.Lys191Thr) c.713A>C (p.Lys238Thr) n.888A>C | |
1 | g.247424156A>G | CA345555246 | NLRP3 | c.707A>G (p.Lys236Arg) c.572A>G (p.Lys191Arg) c.713A>G (p.Lys238Arg) n.888A>G | |
1 | g.247424156A>T | CA345555247 | NLRP3 | c.707A>T (p.Lys236Met) c.572A>T (p.Lys191Met) c.713A>T (p.Lys238Met) n.888A>T | |
1 | g.247424157G>A | CA424573396 | NLRP3 | c.708G>A (p.Lys236=) c.573G>A (p.Lys191=) c.714G>A (p.Lys238=) n.889G>A | gnomAD v4 |
1 | g.247424157G>C | CA345555249 | NLRP3 | c.708G>C (p.Lys236Asn) c.573G>C (p.Lys191Asn) c.714G>C (p.Lys238Asn) n.889G>C | gnomAD v4 |
1 | g.247424157G>T | CA345555248 | NLRP3 | c.708G>T (p.Lys236Asn) c.573G>T (p.Lys191Asn) c.714G>T (p.Lys238Asn) n.889G>T | |
1 | g.247424158A>C | CA345555250 | NLRP3 | c.709A>C (p.Met237Leu) c.574A>C (p.Met192Leu) c.715A>C (p.Met239Leu) n.890A>C | |
1 | g.247424158A>G | CA345555251 | NLRP3 | c.709A>G (p.Met237Val) c.574A>G (p.Met192Val) c.715A>G (p.Met239Val) n.890A>G | |
1 | g.247424158A>T | CA345555252 | NLRP3 | c.709A>T (p.Met237Leu) c.574A>T (p.Met192Leu) c.715A>T (p.Met239Leu) n.890A>T | |
1 | g.247424158_247424159insCAGCAT | CA2651425163 | NLRP3 | c.709_710insCAGCAT (p.Met237delinsThrAlaLeu) c.574_575insCAGCAT (p.Met192delinsThrAlaLeu) c.715_716insCAGCAT (p.Met239delinsThrAlaLeu) n.890_891insCAGCAT | gnomAD v4 |
1 | g.247424159T>A | CA345555253 | NLRP3 | c.710T>A (p.Met237Lys) c.575T>A (p.Met192Lys) c.716T>A (p.Met239Lys) n.891T>A | |
1 | g.247424159T>C | CA345555254 | NLRP3 | c.710T>C (p.Met237Thr) c.575T>C (p.Met192Thr) c.716T>C (p.Met239Thr) n.891T>C | |
1 | g.247424159T>G | CA345555255 | NLRP3 | c.710T>G (p.Met237Arg) c.575T>G (p.Met192Arg) c.716T>G (p.Met239Arg) n.891T>G | |
1 | g.247424160G>A | CA345555256 | NLRP3 | c.711G>A (p.Met237Ile) c.576G>A (p.Met192Ile) c.717G>A (p.Met239Ile) n.892G>A | |
1 | g.247424160G>C | CA345555257 | NLRP3 | c.711G>C (p.Met237Ile) c.576G>C (p.Met192Ile) c.717G>C (p.Met239Ile) n.892G>C | |
1 | g.247424160G>T | CA345555258 | NLRP3 | c.711G>T (p.Met237Ile) c.576G>T (p.Met192Ile) c.717G>T (p.Met239Ile) n.892G>T | dbSNP gnomAD v4 |
1 | g.247424161A= | CA1232097338 | NLRP3 | c.712A= (p.Met238=) c.577A= (p.Met193=) c.718A= (p.Met240=) n.893A= | |
1 | g.247424161A>C | CA345555259 | NLRP3 | c.712A>C (p.Met238Leu) c.577A>C (p.Met193Leu) c.718A>C (p.Met240Leu) n.893A>C | |
1 | g.247424161A>G | CA1494924 | NLRP3 | c.712A>G (p.Met238Val) c.577A>G (p.Met193Val) c.718A>G (p.Met240Val) n.893A>G | dbSNP ExAC gnomAD v2 |
1 | g.247424161A>T | CA345555260 | NLRP3 | c.712A>T (p.Met238Leu) c.577A>T (p.Met193Leu) c.718A>T (p.Met240Leu) n.893A>T | dbSNP gnomAD v4 |
1 | g.247424161_247424162insAGAGGAGTGGATGGGTTTA | CA2651425167 | NLRP3 | c.712_713insAGAGGAGTGGATGGGTTTA (p.Met238LysfsTer21) c.577_578insAGAGGAGTGGATGGGTTTA (p.Met193LysfsTer21) c.718_719insAGAGGAGTGGATGGGTTTA (p.Met240LysfsTer21) n.893_894insAGAGGAGTGGATGGGTTTA | gnomAD v4 |
1 | g.247424162T>A | CA345555263 | NLRP3 | c.713T>A (p.Met238Lys) c.578T>A (p.Met193Lys) c.719T>A (p.Met240Lys) n.894T>A | |
1 | g.247424162T>C | CA345555262 | NLRP3 | c.713T>C (p.Met238Thr) c.578T>C (p.Met193Thr) c.719T>C (p.Met240Thr) n.894T>C | |
1 | g.247424162T>G | CA345555261 | NLRP3 | c.713T>G (p.Met238Arg) c.578T>G (p.Met193Arg) c.719T>G (p.Met240Arg) n.894T>G | |
1 | g.247424163G>A | CA345555264 | NLRP3 | c.714G>A (p.Met238Ile) c.579G>A (p.Met193Ile) c.720G>A (p.Met240Ile) n.895G>A | |
1 | g.247424163G>C | CA345555265 | NLRP3 | c.714G>C (p.Met238Ile) c.579G>C (p.Met193Ile) c.720G>C (p.Met240Ile) n.895G>C | |
1 | g.247424163G>T | CA345555266 | NLRP3 | c.714G>T (p.Met238Ile) c.579G>T (p.Met193Ile) c.720G>T (p.Met240Ile) n.895G>T | gnomAD v4 |
1 | g.247424164T>A | CA345555267 | NLRP3 | c.715T>A (p.Leu239Met) c.580T>A (p.Leu194Met) c.721T>A (p.Leu241Met) n.896T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424164T>C | CA424573397 | NLRP3 | c.715T>C (p.Leu239=) c.580T>C (p.Leu194=) c.721T>C (p.Leu241=) n.896T>C | |
1 | g.247424164T>G | CA345555268 | NLRP3 | c.715T>G (p.Leu239Val) c.580T>G (p.Leu194Val) c.721T>G (p.Leu241Val) n.896T>G | |
1 | g.247424164T= | CA1232097344 | NLRP3 | c.715T= (p.Leu239=) c.580T= (p.Leu194=) c.721T= (p.Leu241=) n.896T= | |
1 | g.247424165T>A | CA345555269 | NLRP3 | c.716T>A (p.Leu239Ter) c.581T>A (p.Leu194Ter) c.722T>A (p.Leu241Ter) n.897T>A | |
1 | g.247424165T>C | CA345555270 | NLRP3 | c.716T>C (p.Leu239Ser) c.581T>C (p.Leu194Ser) c.722T>C (p.Leu241Ser) n.897T>C | |
1 | g.247424165T>G | CA345555271 | NLRP3 | c.716T>G (p.Leu239Trp) c.581T>G (p.Leu194Trp) c.722T>G (p.Leu241Trp) n.897T>G | |
1 | g.247424166G>A | CA424573398 | NLRP3 | c.717G>A (p.Leu239=) c.582G>A (p.Leu194=) c.723G>A (p.Leu241=) n.898G>A | |
1 | g.247424166G>C | CA345555272 | NLRP3 | c.717G>C (p.Leu239Phe) c.582G>C (p.Leu194Phe) c.723G>C (p.Leu241Phe) n.898G>C | |
1 | g.247424166G= | CA1232097347 | NLRP3 | c.717G= (p.Leu239=) c.582G= (p.Leu194=) c.723G= (p.Leu241=) n.898G= | |
1 | g.247424166G>T | CA1494925 | NLRP3 | c.717G>T (p.Leu239Phe) c.582G>T (p.Leu194Phe) c.723G>T (p.Leu241Phe) n.898G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424167G>A | CA345555273 | NLRP3 | c.718G>A (p.Asp240Asn) c.583G>A (p.Asp195Asn) c.724G>A (p.Asp242Asn) n.899G>A | |
1 | g.247424167G>C | CA345555274 | NLRP3 | c.718G>C (p.Asp240His) c.583G>C (p.Asp195His) c.724G>C (p.Asp242His) n.899G>C | |
1 | g.247424167G>T | CA345555275 | NLRP3 | c.718G>T (p.Asp240Tyr) c.583G>T (p.Asp195Tyr) c.724G>T (p.Asp242Tyr) n.899G>T | |
1 | g.247424168A>C | CA345555276 | NLRP3 | c.719A>C (p.Asp240Ala) c.584A>C (p.Asp195Ala) c.725A>C (p.Asp242Ala) n.900A>C | |
1 | g.247424168A>G | CA345555278 | NLRP3 | c.719A>G (p.Asp240Gly) c.584A>G (p.Asp195Gly) c.725A>G (p.Asp242Gly) n.900A>G | |
1 | g.247424168A>T | CA345555277 | NLRP3 | c.719A>T (p.Asp240Val) c.584A>T (p.Asp195Val) c.725A>T (p.Asp242Val) n.900A>T | |
1 | g.247424169C>A | CA345555279 | NLRP3 | c.720C>A (p.Asp240Glu) c.585C>A (p.Asp195Glu) c.726C>A (p.Asp242Glu) n.901C>A | dbSNP |
1 | g.247424169C>G | CA345555280 | NLRP3 | c.720C>G (p.Asp240Glu) c.585C>G (p.Asp195Glu) c.726C>G (p.Asp242Glu) n.901C>G | |
1 | g.247424169C>T | CA424573399 | NLRP3 | c.720C>T (p.Asp240=) c.585C>T (p.Asp195=) c.726C>T (p.Asp242=) n.901C>T | |
1 | g.247424170T>A | CA345555281 | NLRP3 | c.721T>A (p.Trp241Arg) c.586T>A (p.Trp196Arg) c.727T>A (p.Trp243Arg) n.902T>A | dbSNP |
1 | g.247424170T>C | CA345555282 | NLRP3 | c.721T>C (p.Trp241Arg) c.586T>C (p.Trp196Arg) c.727T>C (p.Trp243Arg) n.902T>C | dbSNP |
1 | g.247424170T>G | CA345555283 | NLRP3 | c.721T>G (p.Trp241Gly) c.586T>G (p.Trp196Gly) c.727T>G (p.Trp243Gly) n.902T>G | |
1 | g.247424170T= | CA1232097349 | NLRP3 | c.721T= (p.Trp241=) c.586T= (p.Trp196=) c.727T= (p.Trp243=) n.902T= | |
1 | g.247424171G>A | CA345555284 | NLRP3 | c.722G>A (p.Trp241Ter) c.587G>A (p.Trp196Ter) c.728G>A (p.Trp243Ter) n.903G>A | |
1 | g.247424171G>C | CA345555285 | NLRP3 | c.722G>C (p.Trp241Ser) c.587G>C (p.Trp196Ser) c.728G>C (p.Trp243Ser) n.903G>C | dbSNP |
1 | g.247424171G>T | CA345555286 | NLRP3 | c.722G>T (p.Trp241Leu) c.587G>T (p.Trp196Leu) c.728G>T (p.Trp243Leu) n.903G>T | |
1 | g.247424172G>A | CA345555287 | NLRP3 | c.723G>A (p.Trp241Ter) c.588G>A (p.Trp196Ter) c.729G>A (p.Trp243Ter) n.904G>A | |
1 | g.247424172G>C | CA345555288 | NLRP3 | c.723G>C (p.Trp241Cys) c.588G>C (p.Trp196Cys) c.729G>C (p.Trp243Cys) n.904G>C | |
1 | g.247424172G>T | CA345555289 | NLRP3 | c.723G>T (p.Trp241Cys) c.588G>T (p.Trp196Cys) c.729G>T (p.Trp243Cys) n.904G>T | |
1 | g.247424173G>A | CA40690759 | NLRP3 | c.724G>A (p.Ala242Thr) c.589G>A (p.Ala197Thr) c.730G>A (p.Ala244Thr) n.905G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424173G>C | CA345555291 | NLRP3 | c.724G>C (p.Ala242Pro) c.589G>C (p.Ala197Pro) c.730G>C (p.Ala244Pro) n.905G>C | |
1 | g.247424173G= | CA1232097350 | NLRP3 | c.724G= (p.Ala242=) c.589G= (p.Ala197=) c.730G= (p.Ala244=) n.905G= | |
1 | g.247424173G>T | CA345555290 | NLRP3 | c.724G>T (p.Ala242Ser) c.589G>T (p.Ala197Ser) c.730G>T (p.Ala244Ser) n.905G>T | |
1 | g.247424173_247424174delinsAA | CA2580063581 | NLRP3 | c.724_725delinsAA (p.Ala242Lys) c.589_590delinsAA (p.Ala197Lys) c.730_731delinsAA (p.Ala244Lys) n.905_906delinsAA | ClinVar |
1 | g.247424174C>A | CA40690761 | NLRP3 | c.725C>A (p.Ala242Glu) c.590C>A (p.Ala197Glu) c.731C>A (p.Ala244Glu) n.906C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424174C= | CA1232097354 | NLRP3 | c.725C= (p.Ala242=) c.590C= (p.Ala197=) c.731C= (p.Ala244=) n.906C= | |
1 | g.247424174C>G | CA345555292 | NLRP3 | c.725C>G (p.Ala242Gly) c.590C>G (p.Ala197Gly) c.731C>G (p.Ala244Gly) n.906C>G | |
1 | g.247424174C>T | CA345555293 | NLRP3 | c.725C>T (p.Ala242Val) c.590C>T (p.Ala197Val) c.731C>T (p.Ala244Val) n.906C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424175G>A | CA292555 | NLRP3 | c.726G>A (p.Ala242=) c.591G>A (p.Ala197=) c.732G>A (p.Ala244=) n.907G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424175G>C | CA424573400 | NLRP3 | c.726G>C (p.Ala242=) c.591G>C (p.Ala197=) c.732G>C (p.Ala244=) n.907G>C | |
1 | g.247424175G= | CA1139997170 | NLRP3 | c.726G= (p.Ala242=) c.591G= (p.Ala197=) c.732G= (p.Ala244=) n.907G= | |
1 | g.247424175G>T | CA1494926 | NLRP3 | c.726G>T (p.Ala242=) c.591G>T (p.Ala197=) c.732G>T (p.Ala244=) n.907G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424176T>A | CA345555294 | NLRP3 | c.727T>A (p.Ser243Thr) c.592T>A (p.Ser198Thr) c.733T>A (p.Ser245Thr) n.908T>A | |
1 | g.247424176T>C | CA345555295 | NLRP3 | c.727T>C (p.Ser243Pro) c.592T>C (p.Ser198Pro) c.733T>C (p.Ser245Pro) n.908T>C | |
1 | g.247424176T>G | CA345555296 | NLRP3 | c.727T>G (p.Ser243Ala) c.592T>G (p.Ser198Ala) c.733T>G (p.Ser245Ala) n.908T>G | dbSNP |
1 | g.247424177C>A | CA345555297 | NLRP3 | c.728C>A (p.Ser243Ter) c.593C>A (p.Ser198Ter) c.734C>A (p.Ser245Ter) n.909C>A | |
1 | g.247424177C= | CA1232097369 | NLRP3 | c.728C= (p.Ser243=) c.593C= (p.Ser198=) c.734C= (p.Ser245=) n.909C= | |
1 | g.247424177C>G | CA345555299 | NLRP3 | c.728C>G (p.Ser243Trp) c.593C>G (p.Ser198Trp) c.734C>G (p.Ser245Trp) n.909C>G | |
1 | g.247424177C>T | CA345555298 | NLRP3 | c.728C>T (p.Ser243Leu) c.593C>T (p.Ser198Leu) c.734C>T (p.Ser245Leu) n.909C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424178G>A | CA1494927 | NLRP3 | c.729G>A (p.Ser243=) c.594G>A (p.Ser198=) c.735G>A (p.Ser245=) n.910G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424178G>C | CA424573402 | NLRP3 | c.729G>C (p.Ser243=) c.594G>C (p.Ser198=) c.735G>C (p.Ser245=) n.910G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424178G= | CA1142163864 | NLRP3 | c.729G= (p.Ser243=) c.594G= (p.Ser198=) c.735G= (p.Ser245=) n.910G= | |
1 | g.247424178G>T | CA424573401 | NLRP3 | c.729G>T (p.Ser243=) c.594G>T (p.Ser198=) c.735G>T (p.Ser245=) n.910G>T | |
1 | g.247424181del | CA2651425240 | NLRP3 | c.732del (p.Thr245HisfsTer18) c.597del (p.Thr200HisfsTer18) c.738del (p.Thr247HisfsTer18) n.913del | gnomAD v4 |
1 | g.247424179G>A | CA345555300 | NLRP3 | c.730G>A (p.Gly244Arg) c.595G>A (p.Gly199Arg) c.736G>A (p.Gly246Arg) n.911G>A | |
1 | g.247424179G>C | CA345555301 | NLRP3 | c.730G>C (p.Gly244Arg) c.595G>C (p.Gly199Arg) c.736G>C (p.Gly246Arg) n.911G>C | |
1 | g.247424179G>T | CA345555302 | NLRP3 | c.730G>T (p.Gly244Trp) c.595G>T (p.Gly199Trp) c.736G>T (p.Gly246Trp) n.911G>T | |
1 | g.247424180G>A | CA1494928 | NLRP3 | c.731G>A (p.Gly244Glu) c.596G>A (p.Gly199Glu) c.737G>A (p.Gly246Glu) n.912G>A | dbSNP ExAC gnomAD v2 |
1 | g.247424180G>C | CA345555303 | NLRP3 | c.731G>C (p.Gly244Ala) c.596G>C (p.Gly199Ala) c.737G>C (p.Gly246Ala) n.912G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424180G= | CA1232097380 | NLRP3 | c.731G= (p.Gly244=) c.596G= (p.Gly199=) c.737G= (p.Gly246=) n.912G= | |
1 | g.247424180G>T | CA345555304 | NLRP3 | c.731G>T (p.Gly244Val) c.596G>T (p.Gly199Val) c.737G>T (p.Gly246Val) n.912G>T | |
1 | g.247424181G>A | CA424573403 | NLRP3 | c.732G>A (p.Gly244=) c.597G>A (p.Gly199=) c.738G>A (p.Gly246=) n.913G>A | gnomAD v4 |
1 | g.247424181G>C | CA1494929 | NLRP3 | c.732G>C (p.Gly244=) c.597G>C (p.Gly199=) c.738G>C (p.Gly246=) n.913G>C | dbSNP ExAC gnomAD v2 |
1 | g.247424181G= | CA1232097382 | NLRP3 | c.732G= (p.Gly244=) c.597G= (p.Gly199=) c.738G= (p.Gly246=) n.913G= | |
1 | g.247424181G>T | CA424573404 | NLRP3 | c.732G>T (p.Gly244=) c.597G>T (p.Gly199=) c.738G>T (p.Gly246=) n.913G>T | gnomAD v4 |
1 | g.247424182A>C | CA345555305 | NLRP3 | c.733A>C (p.Thr245Pro) c.598A>C (p.Thr200Pro) c.739A>C (p.Thr247Pro) n.914A>C | |
1 | g.247424182A>G | CA345555306 | NLRP3 | c.733A>G (p.Thr245Ala) c.598A>G (p.Thr200Ala) c.739A>G (p.Thr247Ala) n.914A>G | gnomAD v4 |
1 | g.247424182A>T | CA345555307 | NLRP3 | c.733A>T (p.Thr245Ser) c.598A>T (p.Thr200Ser) c.739A>T (p.Thr247Ser) n.914A>T | |
1 | g.247424183C>A | CA345555308 | NLRP3 | c.734C>A (p.Thr245Lys) c.599C>A (p.Thr200Lys) c.740C>A (p.Thr247Lys) n.915C>A | |
1 | g.247424183C>G | CA345555309 | NLRP3 | c.734C>G (p.Thr245Arg) c.599C>G (p.Thr200Arg) c.740C>G (p.Thr247Arg) n.915C>G | |
1 | g.247424183C>T | CA345555310 | NLRP3 | c.734C>T (p.Thr245Ile) c.599C>T (p.Thr200Ile) c.740C>T (p.Thr247Ile) n.915C>T | |
1 | g.247424184A= | CA1232097386 | NLRP3 | c.735A= (p.Thr245=) c.600A= (p.Thr200=) c.741A= (p.Thr247=) n.916A= | |
1 | g.247424184A>C | CA424573405 | NLRP3 | c.735A>C (p.Thr245=) c.600A>C (p.Thr200=) c.741A>C (p.Thr247=) n.916A>C | |
1 | g.247424184A>G | CA424573406 | NLRP3 | c.735A>G (p.Thr245=) c.600A>G (p.Thr200=) c.741A>G (p.Thr247=) n.916A>G | |
1 | g.247424184A>T | CA424573407 | NLRP3 | c.735A>T (p.Thr245=) c.600A>T (p.Thr200=) c.741A>T (p.Thr247=) n.916A>T | dbSNP |
1 | g.247424185C>A | CA345555311 | NLRP3 | c.736C>A (p.Leu246Ile) c.601C>A (p.Leu201Ile) c.742C>A (p.Leu248Ile) n.917C>A | |
1 | g.247424185C>G | CA345555312 | NLRP3 | c.736C>G (p.Leu246Val) c.601C>G (p.Leu201Val) c.742C>G (p.Leu248Val) n.917C>G | |
1 | g.247424185C>T | CA345555313 | NLRP3 | c.736C>T (p.Leu246Phe) c.601C>T (p.Leu201Phe) c.742C>T (p.Leu248Phe) n.917C>T | |
1 | g.247424186T>A | CA345555314 | NLRP3 | c.737T>A (p.Leu246His) c.602T>A (p.Leu201His) c.743T>A (p.Leu248His) n.918T>A | gnomAD v4 |
1 | g.247424186T>C | CA345555315 | NLRP3 | c.737T>C (p.Leu246Pro) c.602T>C (p.Leu201Pro) c.743T>C (p.Leu248Pro) n.918T>C | |
1 | g.247424186T>G | CA345555316 | NLRP3 | c.737T>G (p.Leu246Arg) c.602T>G (p.Leu201Arg) c.743T>G (p.Leu248Arg) n.918T>G | |
1 | g.247424187C>A | CA424573408 | NLRP3 | c.738C>A (p.Leu246=) c.603C>A (p.Leu201=) c.744C>A (p.Leu248=) n.919C>A | |
1 | g.247424187C>G | CA424573410 | NLRP3 | c.738C>G (p.Leu246=) c.603C>G (p.Leu201=) c.744C>G (p.Leu248=) n.919C>G | dbSNP |
1 | g.247424187C>T | CA424573409 | NLRP3 | c.738C>T (p.Leu246=) c.603C>T (p.Leu201=) c.744C>T (p.Leu248=) n.919C>T | |
1 | g.247424188T>A | CA345555317 | NLRP3 | c.739T>A (p.Tyr247Asn) c.604T>A (p.Tyr202Asn) c.745T>A (p.Tyr249Asn) n.920T>A | |
1 | g.247424188T>C | CA345555319 | NLRP3 | c.739T>C (p.Tyr247His) c.604T>C (p.Tyr202His) c.745T>C (p.Tyr249His) n.920T>C | |
1 | g.247424188T>G | CA345555318 | NLRP3 | c.739T>G (p.Tyr247Asp) c.604T>G (p.Tyr202Asp) c.745T>G (p.Tyr249Asp) n.920T>G | |
1 | g.247424189A>C | CA345555320 | NLRP3 | c.740A>C (p.Tyr247Ser) c.605A>C (p.Tyr202Ser) c.746A>C (p.Tyr249Ser) n.921A>C | |
1 | g.247424189A>G | CA345555321 | NLRP3 | c.740A>G (p.Tyr247Cys) c.605A>G (p.Tyr202Cys) c.746A>G (p.Tyr249Cys) n.921A>G | |
1 | g.247424189A>T | CA345555322 | NLRP3 | c.740A>T (p.Tyr247Phe) c.605A>T (p.Tyr202Phe) c.746A>T (p.Tyr249Phe) n.921A>T | |
1 | g.247424190C>A | CA345555323 | NLRP3 | c.741C>A (p.Tyr247Ter) c.606C>A (p.Tyr202Ter) c.747C>A (p.Tyr249Ter) n.922C>A | |
1 | g.247424190C>G | CA345555324 | NLRP3 | c.741C>G (p.Tyr247Ter) c.606C>G (p.Tyr202Ter) c.747C>G (p.Tyr249Ter) n.922C>G | |
1 | g.247424190C>T | CA424573411 | NLRP3 | c.741C>T (p.Tyr247=) c.606C>T (p.Tyr202=) c.747C>T (p.Tyr249=) n.922C>T | |
1 | g.247424191C>A | CA345555325 | NLRP3 | c.742C>A (p.Gln248Lys) c.607C>A (p.Gln203Lys) c.748C>A (p.Gln250Lys) n.923C>A | |
1 | g.247424191C>G | CA345555326 | NLRP3 | c.742C>G (p.Gln248Glu) c.607C>G (p.Gln203Glu) c.748C>G (p.Gln250Glu) n.923C>G | COSMIC |
1 | g.247424191C>T | CA345555327 | NLRP3 | c.742C>T (p.Gln248Ter) c.607C>T (p.Gln203Ter) c.748C>T (p.Gln250Ter) n.923C>T | COSMIC |
1 | g.247424192A= | CA1232097390 | NLRP3 | c.743A= (p.Gln248=) c.608A= (p.Gln203=) c.749A= (p.Gln250=) n.924A= | |
1 | g.247424192A>C | CA345555328 | NLRP3 | c.743A>C (p.Gln248Pro) c.608A>C (p.Gln203Pro) c.749A>C (p.Gln250Pro) n.924A>C | gnomAD v4 |
1 | g.247424192A>G | CA10577229 | NLRP3 | c.743A>G (p.Gln248Arg) c.608A>G (p.Gln203Arg) c.749A>G (p.Gln250Arg) n.924A>G | ClinVar dbSNP gnomAD v4 |
1 | g.247424192A>T | CA345555329 | NLRP3 | c.743A>T (p.Gln248Leu) c.608A>T (p.Gln203Leu) c.749A>T (p.Gln250Leu) n.924A>T | |
1 | g.247424193A>C | CA345555330 | NLRP3 | c.744A>C (p.Gln248His) c.609A>C (p.Gln203His) c.750A>C (p.Gln250His) n.925A>C | |
1 | g.247424193A>G | CA424573412 | NLRP3 | c.744A>G (p.Gln248=) c.609A>G (p.Gln203=) c.750A>G (p.Gln250=) n.925A>G | |
1 | g.247424193A>T | CA345555331 | NLRP3 | c.744A>T (p.Gln248His) c.609A>T (p.Gln203His) c.750A>T (p.Gln250His) n.925A>T | |
1 | g.247424194G>A | CA345555334 | NLRP3 | c.745G>A (p.Asp249Asn) c.610G>A (p.Asp204Asn) c.751G>A (p.Asp251Asn) n.926G>A | |
1 | g.247424194G>C | CA345555332 | NLRP3 | c.745G>C (p.Asp249His) c.610G>C (p.Asp204His) c.751G>C (p.Asp251His) n.926G>C | ClinVar |
1 | g.247424194G>T | CA345555333 | NLRP3 | c.745G>T (p.Asp249Tyr) c.610G>T (p.Asp204Tyr) c.751G>T (p.Asp251Tyr) n.926G>T | COSMIC |
1 | g.247424195A>C | CA345555335 | NLRP3 | c.746A>C (p.Asp249Ala) c.611A>C (p.Asp204Ala) c.752A>C (p.Asp251Ala) n.927A>C | |
1 | g.247424195A>G | CA345555336 | NLRP3 | c.746A>G (p.Asp249Gly) c.611A>G (p.Asp204Gly) c.752A>G (p.Asp251Gly) n.927A>G | |
1 | g.247424195A>T | CA345555337 | NLRP3 | c.746A>T (p.Asp249Val) c.611A>T (p.Asp204Val) c.752A>T (p.Asp251Val) n.927A>T | |
1 | g.247424196C>A | CA345555338 | NLRP3 | c.747C>A (p.Asp249Glu) c.612C>A (p.Asp204Glu) c.753C>A (p.Asp251Glu) n.928C>A | |
1 | g.247424196C= | CA1232097396 | NLRP3 | c.747C= (p.Asp249=) c.612C= (p.Asp204=) c.753C= (p.Asp251=) n.928C= | |
1 | g.247424196C>G | CA345555339 | NLRP3 | c.747C>G (p.Asp249Glu) c.612C>G (p.Asp204Glu) c.753C>G (p.Asp251Glu) n.928C>G | |
1 | g.247424196C>T | CA1494930 | NLRP3 | c.747C>T (p.Asp249=) c.612C>T (p.Asp204=) c.753C>T (p.Asp251=) n.928C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424197A>C | CA424573413 | NLRP3 | c.748A>C (p.Arg250=) c.613A>C (p.Arg205=) c.754A>C (p.Arg252=) n.929A>C | |
1 | g.247424197A>G | CA345555340 | NLRP3 | c.748A>G (p.Arg250Gly) c.613A>G (p.Arg205Gly) c.754A>G (p.Arg252Gly) n.929A>G | |
1 | g.247424197A>T | CA345555341 | NLRP3 | c.748A>T (p.Arg250Trp) c.613A>T (p.Arg205Trp) c.754A>T (p.Arg252Trp) n.929A>T | |
1 | g.247424198G>A | CA345555342 | NLRP3 | c.749G>A (p.Arg250Lys) c.614G>A (p.Arg205Lys) c.755G>A (p.Arg252Lys) n.930G>A | |
1 | g.247424198G>C | CA345555343 | NLRP3 | c.749G>C (p.Arg250Thr) c.614G>C (p.Arg205Thr) c.755G>C (p.Arg252Thr) n.930G>C | gnomAD v4 |
1 | g.247424198G= | CA1232097398 | NLRP3 | c.749G= (p.Arg250=) c.614G= (p.Arg205=) c.755G= (p.Arg252=) n.930G= | |
1 | g.247424198G>T | CA345555344 | NLRP3 | c.749G>T (p.Arg250Met) c.614G>T (p.Arg205Met) c.755G>T (p.Arg252Met) n.930G>T | dbSNP |
1 | g.247424199G>A | CA424573414 | NLRP3 | c.750G>A (p.Arg250=) c.615G>A (p.Arg205=) c.756G>A (p.Arg252=) n.931G>A | gnomAD v4 |
1 | g.247424199G>C | CA345555345 | NLRP3 | c.750G>C (p.Arg250Ser) c.615G>C (p.Arg205Ser) c.756G>C (p.Arg252Ser) n.931G>C | |
1 | g.247424199G>T | CA345555346 | NLRP3 | c.750G>T (p.Arg250Ser) c.615G>T (p.Arg205Ser) c.756G>T (p.Arg252Ser) n.931G>T | gnomAD v4 |
1 | g.247424200T>A | CA345555349 | NLRP3 | c.751T>A (p.Phe251Ile) c.616T>A (p.Phe206Ile) c.757T>A (p.Phe253Ile) n.932T>A | |
1 | g.247424200T>C | CA345555348 | NLRP3 | c.751T>C (p.Phe251Leu) c.616T>C (p.Phe206Leu) c.757T>C (p.Phe253Leu) n.932T>C | |
1 | g.247424200T>G | CA345555347 | NLRP3 | c.751T>G (p.Phe251Val) c.616T>G (p.Phe206Val) c.757T>G (p.Phe253Val) n.932T>G | |
1 | g.247424201T>A | CA345555350 | NLRP3 | c.752T>A (p.Phe251Tyr) c.617T>A (p.Phe206Tyr) c.758T>A (p.Phe253Tyr) n.933T>A | |
1 | g.247424201T>C | CA345555352 | NLRP3 | c.752T>C (p.Phe251Ser) c.617T>C (p.Phe206Ser) c.758T>C (p.Phe253Ser) n.933T>C | |
1 | g.247424201T>G | CA345555351 | NLRP3 | c.752T>G (p.Phe251Cys) c.617T>G (p.Phe206Cys) c.758T>G (p.Phe253Cys) n.933T>G | gnomAD v4 |
1 | g.247424202T>A | CA345555353 | NLRP3 | c.753T>A (p.Phe251Leu) c.618T>A (p.Phe206Leu) c.759T>A (p.Phe253Leu) n.934T>A | |
1 | g.247424202T>C | CA424573415 | NLRP3 | c.753T>C (p.Phe251=) c.618T>C (p.Phe206=) c.759T>C (p.Phe253=) n.934T>C | |
1 | g.247424202T>G | CA345555354 | NLRP3 | c.753T>G (p.Phe251Leu) c.618T>G (p.Phe206Leu) c.759T>G (p.Phe253Leu) n.934T>G | |
1 | g.247424203G>A | CA345555355 | NLRP3 | c.754G>A (p.Asp252Asn) c.619G>A (p.Asp207Asn) c.760G>A (p.Asp254Asn) n.935G>A | |
1 | g.247424203G>C | CA345555356 | NLRP3 | c.754G>C (p.Asp252His) c.619G>C (p.Asp207His) c.760G>C (p.Asp254His) n.935G>C | COSMIC |
1 | g.247424203G>T | CA345555357 | NLRP3 | c.754G>T (p.Asp252Tyr) c.619G>T (p.Asp207Tyr) c.760G>T (p.Asp254Tyr) n.935G>T | |
1 | g.247424204A>C | CA345555358 | NLRP3 | c.755A>C (p.Asp252Ala) c.620A>C (p.Asp207Ala) c.761A>C (p.Asp254Ala) n.936A>C | |
1 | g.247424204A>G | CA345555359 | NLRP3 | c.755A>G (p.Asp252Gly) c.620A>G (p.Asp207Gly) c.761A>G (p.Asp254Gly) n.936A>G | |
1 | g.247424204A>T | CA345555360 | NLRP3 | c.755A>T (p.Asp252Val) c.620A>T (p.Asp207Val) c.761A>T (p.Asp254Val) n.936A>T | |
1 | g.247424205C>A | CA345555361 | NLRP3 | c.756C>A (p.Asp252Glu) c.621C>A (p.Asp207Glu) c.762C>A (p.Asp254Glu) n.937C>A | |
1 | g.247424205C= | CA1232097400 | NLRP3 | c.756C= (p.Asp252=) c.621C= (p.Asp207=) c.762C= (p.Asp254=) n.937C= | |
1 | g.247424205C>G | CA345555362 | NLRP3 | c.756C>G (p.Asp252Glu) c.621C>G (p.Asp207Glu) c.762C>G (p.Asp254Glu) n.937C>G | |
1 | g.247424205C>T | CA424573417 | NLRP3 | c.756C>T (p.Asp252=) c.621C>T (p.Asp207=) c.762C>T (p.Asp254=) n.937C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424206T>A | CA345555363 | NLRP3 | c.757T>A (p.Tyr253Asn) c.622T>A (p.Tyr208Asn) c.763T>A (p.Tyr255Asn) n.938T>A | |
1 | g.247424206T>C | CA345555364 | NLRP3 | c.757T>C (p.Tyr253His) c.622T>C (p.Tyr208His) c.763T>C (p.Tyr255His) n.938T>C | |
1 | g.247424206T>G | CA345555365 | NLRP3 | c.757T>G (p.Tyr253Asp) c.622T>G (p.Tyr208Asp) c.763T>G (p.Tyr255Asp) n.938T>G | |
1 | g.247424207A= | CA1232097402 | NLRP3 | c.758A= (p.Tyr253=) c.623A= (p.Tyr208=) c.764A= (p.Tyr255=) n.939A= | |
1 | g.247424207A>C | CA345555367 | NLRP3 | c.758A>C (p.Tyr253Ser) c.623A>C (p.Tyr208Ser) c.764A>C (p.Tyr255Ser) n.939A>C | |
1 | g.247424207A>G | CA40690818 | NLRP3 | c.758A>G (p.Tyr253Cys) c.623A>G (p.Tyr208Cys) c.764A>G (p.Tyr255Cys) n.939A>G | dbSNP gnomAD v4 |
1 | g.247424207A>T | CA345555366 | NLRP3 | c.758A>T (p.Tyr253Phe) c.623A>T (p.Tyr208Phe) c.764A>T (p.Tyr255Phe) n.939A>T | |
1 | g.247424208T>A | CA345555368 | NLRP3 | c.759T>A (p.Tyr253Ter) c.624T>A (p.Tyr208Ter) c.765T>A (p.Tyr255Ter) n.940T>A | |
1 | g.247424208T>C | CA424573418 | NLRP3 | c.759T>C (p.Tyr253=) c.624T>C (p.Tyr208=) c.765T>C (p.Tyr255=) n.940T>C | |
1 | g.247424208T>G | CA345555369 | NLRP3 | c.759T>G (p.Tyr253Ter) c.624T>G (p.Tyr208Ter) c.765T>G (p.Tyr255Ter) n.940T>G | |
1 | g.247424209C>A | CA345555370 | NLRP3 | c.760C>A (p.Leu254Met) c.625C>A (p.Leu209Met) c.766C>A (p.Leu256Met) n.941C>A | ClinVar dbSNP |
1 | g.247424209C= | CA1232097407 | NLRP3 | c.760C= (p.Leu254=) c.625C= (p.Leu209=) c.766C= (p.Leu256=) n.941C= | |
1 | g.247424209C>G | CA345555371 | NLRP3 | c.760C>G (p.Leu254Val) c.625C>G (p.Leu209Val) c.766C>G (p.Leu256Val) n.941C>G | |
1 | g.247424209C>T | CA424573419 | NLRP3 | c.760C>T (p.Leu254=) c.625C>T (p.Leu209=) c.766C>T (p.Leu256=) n.941C>T | gnomAD v4 |
1 | g.247424210T>A | CA345555372 | NLRP3 | c.761T>A (p.Leu254Gln) c.626T>A (p.Leu209Gln) c.767T>A (p.Leu256Gln) n.942T>A | |
1 | g.247424210T>C | CA345555373 | NLRP3 | c.761T>C (p.Leu254Pro) c.626T>C (p.Leu209Pro) c.767T>C (p.Leu256Pro) n.942T>C | |
1 | g.247424210T>G | CA345555374 | NLRP3 | c.761T>G (p.Leu254Arg) c.626T>G (p.Leu209Arg) c.767T>G (p.Leu256Arg) n.942T>G | |
1 | g.247424211G>A | CA424573420 | NLRP3 | c.762G>A (p.Leu254=) c.627G>A (p.Leu209=) c.768G>A (p.Leu256=) n.943G>A | COSMIC |
1 | g.247424211G>C | CA424573421 | NLRP3 | c.762G>C (p.Leu254=) c.627G>C (p.Leu209=) c.768G>C (p.Leu256=) n.943G>C | |
1 | g.247424211G= | CA1232097417 | NLRP3 | c.762G= (p.Leu254=) c.627G= (p.Leu209=) c.768G= (p.Leu256=) n.943G= | |
1 | g.247424211G>T | CA424573422 | NLRP3 | c.762G>T (p.Leu254=) c.627G>T (p.Leu209=) c.768G>T (p.Leu256=) n.943G>T | dbSNP |
1 | g.247424211_247424213delinsGTT | CA1232097415 | NLRP3 | c.762_764delinsGTT (p.Leu254=) c.627_629delinsGTT (p.Leu209=) c.768_770delinsGTT (p.Leu256=) n.943_945delinsGTT | |
1 | g.247424212T>A | CA345555375 | NLRP3 | c.763T>A (p.Phe255Ile) c.628T>A (p.Phe210Ile) c.769T>A (p.Phe257Ile) n.944T>A | |
1 | g.247424212T>C | CA345555376 | NLRP3 | c.763T>C (p.Phe255Leu) c.628T>C (p.Phe210Leu) c.769T>C (p.Phe257Leu) n.944T>C | |
1 | g.247424212T>G | CA345555377 | NLRP3 | c.763T>G (p.Phe255Val) c.628T>G (p.Phe210Val) c.769T>G (p.Phe257Val) n.944T>G | |
1 | g.247424212_247424213del | CA915942121 | NLRP3 | c.763_764del (p.Phe255LeufsTer?) c.628_629del (p.Phe210LeufsTer?) c.769_770del (p.Phe257LeufsTer?) n.944_945del | ClinVar dbSNP |
1 | g.247424213T>A | CA345555378 | NLRP3 | c.764T>A (p.Phe255Tyr) c.629T>A (p.Phe210Tyr) c.770T>A (p.Phe257Tyr) n.945T>A | |
1 | g.247424213T>C | CA345555379 | NLRP3 | c.764T>C (p.Phe255Ser) c.629T>C (p.Phe210Ser) c.770T>C (p.Phe257Ser) n.945T>C | |
1 | g.247424213T>G | CA345555380 | NLRP3 | c.764T>G (p.Phe255Cys) c.629T>G (p.Phe210Cys) c.770T>G (p.Phe257Cys) n.945T>G | |
1 | g.247424214C>A | CA345555381 | NLRP3 | c.765C>A (p.Phe255Leu) c.630C>A (p.Phe210Leu) c.771C>A (p.Phe257Leu) n.946C>A | |
1 | g.247424214C= | CA1232097425 | NLRP3 | c.765C= (p.Phe255=) c.630C= (p.Phe210=) c.771C= (p.Phe257=) n.946C= | |
1 | g.247424214C>G | CA345555382 | NLRP3 | c.765C>G (p.Phe255Leu) c.630C>G (p.Phe210Leu) c.771C>G (p.Phe257Leu) n.946C>G | |
1 | g.247424214C>T | CA1494931 | NLRP3 | c.765C>T (p.Phe255=) c.630C>T (p.Phe210=) c.771C>T (p.Phe257=) n.946C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424215T>A | CA345555383 | NLRP3 | c.766T>A (p.Tyr256Asn) c.631T>A (p.Tyr211Asn) c.772T>A (p.Tyr258Asn) n.947T>A | |
1 | g.247424215T>C | CA345555384 | NLRP3 | c.766T>C (p.Tyr256His) c.631T>C (p.Tyr211His) c.772T>C (p.Tyr258His) n.947T>C | |
1 | g.247424215T>G | CA345555385 | NLRP3 | c.766T>G (p.Tyr256Asp) c.631T>G (p.Tyr211Asp) c.772T>G (p.Tyr258Asp) n.947T>G | |
1 | g.247424216A>C | CA345555386 | NLRP3 | c.767A>C (p.Tyr256Ser) c.632A>C (p.Tyr211Ser) c.773A>C (p.Tyr258Ser) n.948A>C | |
1 | g.247424216A>G | CA345555387 | NLRP3 | c.767A>G (p.Tyr256Cys) c.632A>G (p.Tyr211Cys) c.773A>G (p.Tyr258Cys) n.948A>G | |
1 | g.247424216A>T | CA345555388 | NLRP3 | c.767A>T (p.Tyr256Phe) c.632A>T (p.Tyr211Phe) c.773A>T (p.Tyr258Phe) n.948A>T | |
1 | g.247424217T>A | CA345555389 | NLRP3 | c.768T>A (p.Tyr256Ter) c.633T>A (p.Tyr211Ter) c.774T>A (p.Tyr258Ter) n.949T>A | |
1 | g.247424217T>C | CA424573423 | NLRP3 | c.768T>C (p.Tyr256=) c.633T>C (p.Tyr211=) c.774T>C (p.Tyr258=) n.949T>C | |
1 | g.247424217T>G | CA345555390 | NLRP3 | c.768T>G (p.Tyr256Ter) c.633T>G (p.Tyr211Ter) c.774T>G (p.Tyr258Ter) n.949T>G | |
1 | g.247424218A>C | CA345555391 | NLRP3 | c.769A>C (p.Ile257Leu) c.634A>C (p.Ile212Leu) c.775A>C (p.Ile259Leu) n.950A>C | |
1 | g.247424218A>G | CA345555392 | NLRP3 | c.769A>G (p.Ile257Val) c.634A>G (p.Ile212Val) c.775A>G (p.Ile259Val) n.950A>G | |
1 | g.247424218A>T | CA345555393 | NLRP3 | c.769A>T (p.Ile257Phe) c.634A>T (p.Ile212Phe) c.775A>T (p.Ile259Phe) n.950A>T | ClinVar dbSNP |
1 | g.247424219T>A | CA345555396 | NLRP3 | c.770T>A (p.Ile257Asn) c.635T>A (p.Ile212Asn) c.776T>A (p.Ile259Asn) n.951T>A | ClinVar dbSNP |
1 | g.247424219T>C | CA345555395 | NLRP3 | c.770T>C (p.Ile257Thr) c.635T>C (p.Ile212Thr) c.776T>C (p.Ile259Thr) n.951T>C | |
1 | g.247424219T>G | CA345555394 | NLRP3 | c.770T>G (p.Ile257Ser) c.635T>G (p.Ile212Ser) c.776T>G (p.Ile259Ser) n.951T>G | |
1 | g.247424220C>A | CA424573424 | NLRP3 | c.771C>A (p.Ile257=) c.636C>A (p.Ile212=) c.777C>A (p.Ile259=) n.952C>A | |
1 | g.247424220C>G | CA345555397 | NLRP3 | c.771C>G (p.Ile257Met) c.636C>G (p.Ile212Met) c.777C>G (p.Ile259Met) n.952C>G | |
1 | g.247424220C>T | CA424573425 | NLRP3 | c.771C>T (p.Ile257=) c.636C>T (p.Ile212=) c.777C>T (p.Ile259=) n.952C>T | gnomAD v4 |
1 | g.247424221C>A | CA345555398 | NLRP3 | c.772C>A (p.His258Asn) c.637C>A (p.His213Asn) c.778C>A (p.His260Asn) n.953C>A | |
1 | g.247424221C>G | CA345555399 | NLRP3 | c.772C>G (p.His258Asp) c.637C>G (p.His213Asp) c.778C>G (p.His260Asp) n.953C>G | |
1 | g.247424221C>T | CA345555400 | NLRP3 | c.772C>T (p.His258Tyr) c.637C>T (p.His213Tyr) c.778C>T (p.His260Tyr) n.953C>T | |
1 | g.247424222A>C | CA345555401 | NLRP3 | c.773A>C (p.His258Pro) c.638A>C (p.His213Pro) c.779A>C (p.His260Pro) n.954A>C | |
1 | g.247424222A>G | CA345555402 | NLRP3 | c.773A>G (p.His258Arg) c.638A>G (p.His213Arg) c.779A>G (p.His260Arg) n.954A>G | |
1 | g.247424222A>T | CA345555403 | NLRP3 | c.773A>T (p.His258Leu) c.638A>T (p.His213Leu) c.779A>T (p.His260Leu) n.954A>T | gnomAD v4 |
1 | g.247424223C>A | CA345555404 | NLRP3 | c.774C>A (p.His258Gln) c.639C>A (p.His213Gln) c.780C>A (p.His260Gln) n.955C>A | |
1 | g.247424223C= | CA1232097429 | NLRP3 | c.774C= (p.His258=) c.639C= (p.His213=) c.780C= (p.His260=) n.955C= | |
1 | g.247424223C>G | CA345555405 | NLRP3 | c.774C>G (p.His258Gln) c.639C>G (p.His213Gln) c.780C>G (p.His260Gln) n.955C>G | |
1 | g.247424223C>T | CA40690825 | NLRP3 | c.774C>T (p.His258=) c.639C>T (p.His213=) c.780C>T (p.His260=) n.955C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |