Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.102451946C>ACA347947848IL18RAPc.1565C>A (p.Ser522Tyr)
c.1139C>A (p.Ser380Tyr)
c.707C>A (p.Ser236Tyr)
2g.102451946C>GCA347947849IL18RAPc.1565C>G (p.Ser522Cys)
c.1139C>G (p.Ser380Cys)
c.707C>G (p.Ser236Cys)
2g.102451946C>TCA347947850IL18RAPc.1565C>T (p.Ser522Phe)
c.1139C>T (p.Ser380Phe)
c.707C>T (p.Ser236Phe)
 gnomAD v4
2g.102451947T>ACA427843856IL18RAPc.1566T>A (p.Ser522=)
c.1140T>A (p.Ser380=)
c.708T>A (p.Ser236=)
2g.102451947T>CCA427843857IL18RAPc.1566T>C (p.Ser522=)
c.1140T>C (p.Ser380=)
c.708T>C (p.Ser236=)
2g.102451947T>GCA427843858IL18RAPc.1566T>G (p.Ser522=)
c.1140T>G (p.Ser380=)
c.708T>G (p.Ser236=)
 gnomAD v4
2g.102451948C>ACA347947853IL18RAPc.1567C>A (p.Leu523Ile)
c.1141C>A (p.Leu381Ile)
c.709C>A (p.Leu237Ile)
2g.102451948C>GCA347947855IL18RAPc.1567C>G (p.Leu523Val)
c.1141C>G (p.Leu381Val)
c.709C>G (p.Leu237Val)
2g.102451948C>TCA427843861IL18RAPc.1567C>T (p.Leu523=)
c.1141C>T (p.Leu381=)
c.709C>T (p.Leu237=)
2g.102451949T>ACA347947860IL18RAPc.1568T>A (p.Leu523Gln)
c.1142T>A (p.Leu381Gln)
c.710T>A (p.Leu237Gln)
2g.102451949T>CCA347947864IL18RAPc.1568T>C (p.Leu523Pro)
c.1142T>C (p.Leu381Pro)
c.710T>C (p.Leu237Pro)
2g.102451949T>GCA347947866IL18RAPc.1568T>G (p.Leu523Arg)
c.1142T>G (p.Leu381Arg)
c.710T>G (p.Leu237Arg)
2g.102451950A=CA1275266749IL18RAPc.1569A= (p.Leu523=)
c.1143A= (p.Leu381=)
c.711A= (p.Leu237=)
2g.102451950A>CCA427843865IL18RAPc.1569A>C (p.Leu523=)
c.1143A>C (p.Leu381=)
c.711A>C (p.Leu237=)
2g.102451950A>GCA427843864IL18RAPc.1569A>G (p.Leu523=)
c.1143A>G (p.Leu381=)
c.711A>G (p.Leu237=)
 dbSNP gnomAD v3 gnomAD v4
2g.102451950A>TCA427843863IL18RAPc.1569A>T (p.Leu523=)
c.1143A>T (p.Leu381=)
c.711A>T (p.Leu237=)
2g.102451951C>ACA347947884IL18RAPc.1570C>A (p.Pro524Thr)
c.1144C>A (p.Pro382Thr)
c.712C>A (p.Pro238Thr)
 gnomAD v4
2g.102451951C>GCA347947893IL18RAPc.1570C>G (p.Pro524Ala)
c.1144C>G (p.Pro382Ala)
c.712C>G (p.Pro238Ala)
2g.102451951C>TCA347947890IL18RAPc.1570C>T (p.Pro524Ser)
c.1144C>T (p.Pro382Ser)
c.712C>T (p.Pro238Ser)
 COSMIC
2g.102451952delCA2660480963IL18RAPc.1571del (p.Pro524LeufsTer4)
c.1145del (p.Pro382LeufsTer4)
c.713del (p.Pro238LeufsTer4)
 gnomAD v4
2g.102451952C>ACA347947898IL18RAPc.1571C>A (p.Pro524His)
c.1145C>A (p.Pro382His)
c.713C>A (p.Pro238His)
2g.102451952C=CA1275266753IL18RAPc.1571C= (p.Pro524=)
c.1145C= (p.Pro382=)
c.713C= (p.Pro238=)
2g.102451952C>GCA347947900IL18RAPc.1571C>G (p.Pro524Arg)
c.1145C>G (p.Pro382Arg)
c.713C>G (p.Pro238Arg)
2g.102451952C>TCA347947903IL18RAPc.1571C>T (p.Pro524Leu)
c.1145C>T (p.Pro382Leu)
c.713C>T (p.Pro238Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451953T>ACA427843866IL18RAPc.1572T>A (p.Pro524=)
c.1146T>A (p.Pro382=)
c.714T>A (p.Pro238=)
2g.102451953T>CCA427843867IL18RAPc.1572T>C (p.Pro524=)
c.1146T>C (p.Pro382=)
c.714T>C (p.Pro238=)
2g.102451953T>GCA427843869IL18RAPc.1572T>G (p.Pro524=)
c.1146T>G (p.Pro382=)
c.714T>G (p.Pro238=)
2g.102451954C>ACA347947907IL18RAPc.1573C>A (p.His525Asn)
c.1147C>A (p.His383Asn)
c.715C>A (p.His239Asn)
2g.102451954C>GCA347947910IL18RAPc.1573C>G (p.His525Asp)
c.1147C>G (p.His383Asp)
c.715C>G (p.His239Asp)
2g.102451954C>TCA347947913IL18RAPc.1573C>T (p.His525Tyr)
c.1147C>T (p.His383Tyr)
c.715C>T (p.His239Tyr)
2g.102451955A=CA1275266757IL18RAPc.1574A= (p.His525=)
c.1148A= (p.His383=)
c.716A= (p.His239=)
2g.102451955A>CCA347947916IL18RAPc.1574A>C (p.His525Pro)
c.1148A>C (p.His383Pro)
c.716A>C (p.His239Pro)
 gnomAD v4
2g.102451955A>GCA347947917IL18RAPc.1574A>G (p.His525Arg)
c.1148A>G (p.His383Arg)
c.716A>G (p.His239Arg)
 gnomAD v4
2g.102451955A>TCA347947918IL18RAPc.1574A>T (p.His525Leu)
c.1148A>T (p.His383Leu)
c.716A>T (p.His239Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.102451956T>ACA347947920IL18RAPc.1575T>A (p.His525Gln)
c.1149T>A (p.His383Gln)
c.717T>A (p.His239Gln)
2g.102451956T>CCA427843870IL18RAPc.1575T>C (p.His525=)
c.1149T>C (p.His383=)
c.717T>C (p.His239=)
2g.102451956T>GCA347947922IL18RAPc.1575T>G (p.His525Gln)
c.1149T>G (p.His383Gln)
c.717T>G (p.His239Gln)
2g.102451957C>ACA347947931IL18RAPc.1576C>A (p.Leu526Ile)
c.1150C>A (p.Leu384Ile)
c.718C>A (p.Leu240Ile)
2g.102451957C>GCA347947928IL18RAPc.1576C>G (p.Leu526Val)
c.1150C>G (p.Leu384Val)
c.718C>G (p.Leu240Val)
2g.102451957C>TCA347947926IL18RAPc.1576C>T (p.Leu526Phe)
c.1150C>T (p.Leu384Phe)
c.718C>T (p.Leu240Phe)
 gnomAD v4 COSMIC
2g.102451958T>ACA347947945IL18RAPc.1577T>A (p.Leu526His)
c.1151T>A (p.Leu384His)
c.719T>A (p.Leu240His)
2g.102451958T>CCA1810656IL18RAPc.1577T>C (p.Leu526Pro)
c.1151T>C (p.Leu384Pro)
c.719T>C (p.Leu240Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451958T>GCA347947951IL18RAPc.1577T>G (p.Leu526Arg)
c.1151T>G (p.Leu384Arg)
c.719T>G (p.Leu240Arg)
2g.102451958T=CA1275266759IL18RAPc.1577T= (p.Leu526=)
c.1151T= (p.Leu384=)
c.719T= (p.Leu240=)
2g.102451959C>ACA427843872IL18RAPc.1578C>A (p.Leu526=)
c.1152C>A (p.Leu384=)
c.720C>A (p.Leu240=)
 dbSNP
2g.102451959C=CA1275266764IL18RAPc.1578C= (p.Leu526=)
c.1152C= (p.Leu384=)
c.720C= (p.Leu240=)
2g.102451959C>GCA427843873IL18RAPc.1578C>G (p.Leu526=)
c.1152C>G (p.Leu384=)
c.720C>G (p.Leu240=)
2g.102451959C>TCA1810657IL18RAPc.1578C>T (p.Leu526=)
c.1152C>T (p.Leu384=)
c.720C>T (p.Leu240=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451960G>ACA1810659IL18RAPc.1579G>A (p.Val527Met)
c.1153G>A (p.Val385Met)
c.721G>A (p.Val241Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451960G>CCA347947962IL18RAPc.1579G>C (p.Val527Leu)
c.1153G>C (p.Val385Leu)
c.721G>C (p.Val241Leu)
2g.102451960G=CA1275266767IL18RAPc.1579G= (p.Val527=)
c.1153G= (p.Val385=)
c.721G= (p.Val241=)
2g.102451960G>TCA1810658IL18RAPc.1579G>T (p.Val527Leu)
c.1153G>T (p.Val385Leu)
c.721G>T (p.Val241Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451961T>ACA347947971IL18RAPc.1580T>A (p.Val527Glu)
c.1154T>A (p.Val385Glu)
c.722T>A (p.Val241Glu)
2g.102451961T>CCA347947978IL18RAPc.1580T>C (p.Val527Ala)
c.1154T>C (p.Val385Ala)
c.722T>C (p.Val241Ala)
 gnomAD v4
2g.102451961T>GCA347947979IL18RAPc.1580T>G (p.Val527Gly)
c.1154T>G (p.Val385Gly)
c.722T>G (p.Val241Gly)
2g.102451962G>ACA427843875IL18RAPc.1581G>A (p.Val527=)
c.1155G>A (p.Val385=)
c.723G>A (p.Val241=)
 dbSNP COSMIC
2g.102451962G>CCA427843877IL18RAPc.1581G>C (p.Val527=)
c.1155G>C (p.Val385=)
c.723G>C (p.Val241=)
2g.102451962G=CA1275266770IL18RAPc.1581G= (p.Val527=)
c.1155G= (p.Val385=)
c.723G= (p.Val241=)
2g.102451962G>TCA427843876IL18RAPc.1581G>T (p.Val527=)
c.1155G>T (p.Val385=)
c.723G>T (p.Val241=)
2g.102451963A=CA1275266772IL18RAPc.1582A= (p.Lys528=)
c.1156A= (p.Lys386=)
c.724A= (p.Lys242=)
2g.102451963A>CCA347947983IL18RAPc.1582A>C (p.Lys528Gln)
c.1156A>C (p.Lys386Gln)
c.724A>C (p.Lys242Gln)
2g.102451963A>GCA347947985IL18RAPc.1582A>G (p.Lys528Glu)
c.1156A>G (p.Lys386Glu)
c.724A>G (p.Lys242Glu)
 dbSNP gnomAD v4
2g.102451963A>TCA347947988IL18RAPc.1582A>T (p.Lys528Ter)
c.1156A>T (p.Lys386Ter)
c.724A>T (p.Lys242Ter)
2g.102451968dupCA2660480964IL18RAPc.1587dup (p.Ala530SerfsTer21)
c.1161dup (p.Ala388SerfsTer21)
c.729dup (p.Ala244SerfsTer21)
 gnomAD v4
2g.102451968delCA2660480965IL18RAPc.1587del (p.Ala530LeufsTer13)
c.1161del (p.Ala388LeufsTer13)
c.729del (p.Ala244LeufsTer13)
 gnomAD v4
2g.102451964A>CCA347947993IL18RAPc.1583A>C (p.Lys528Thr)
c.1157A>C (p.Lys386Thr)
c.725A>C (p.Lys242Thr)
2g.102451964A>GCA347947995IL18RAPc.1583A>G (p.Lys528Arg)
c.1157A>G (p.Lys386Arg)
c.725A>G (p.Lys242Arg)
2g.102451964A>TCA347947991IL18RAPc.1583A>T (p.Lys528Ile)
c.1157A>T (p.Lys386Ile)
c.725A>T (p.Lys242Ile)
2g.102451965A=CA1275266775IL18RAPc.1584A= (p.Lys528=)
c.1158A= (p.Lys386=)
c.726A= (p.Lys242=)
2g.102451965A>CCA347948000IL18RAPc.1584A>C (p.Lys528Asn)
c.1158A>C (p.Lys386Asn)
c.726A>C (p.Lys242Asn)
2g.102451965A>GCA1810660IL18RAPc.1584A>G (p.Lys528=)
c.1158A>G (p.Lys386=)
c.726A>G (p.Lys242=)
 dbSNP ExAC
2g.102451965A>TCA347948002IL18RAPc.1584A>T (p.Lys528Asn)
c.1158A>T (p.Lys386Asn)
c.726A>T (p.Lys242Asn)
2g.102451966A>CCA347948004IL18RAPc.1585A>C (p.Lys529Gln)
c.1159A>C (p.Lys387Gln)
c.727A>C (p.Lys243Gln)
2g.102451966A>GCA347948006IL18RAPc.1585A>G (p.Lys529Glu)
c.1159A>G (p.Lys387Glu)
c.727A>G (p.Lys243Glu)
2g.102451966A>TCA347948005IL18RAPc.1585A>T (p.Lys529Ter)
c.1159A>T (p.Lys387Ter)
c.727A>T (p.Lys243Ter)
2g.102451967A>CCA347948008IL18RAPc.1586A>C (p.Lys529Thr)
c.1160A>C (p.Lys387Thr)
c.728A>C (p.Lys243Thr)
2g.102451967A>GCA347948013IL18RAPc.1586A>G (p.Lys529Arg)
c.1160A>G (p.Lys387Arg)
c.728A>G (p.Lys243Arg)
2g.102451967A>TCA347948011IL18RAPc.1586A>T (p.Lys529Ile)
c.1160A>T (p.Lys387Ile)
c.728A>T (p.Lys243Ile)
2g.102451968A>CCA347948015IL18RAPc.1587A>C (p.Lys529Asn)
c.1161A>C (p.Lys387Asn)
c.729A>C (p.Lys243Asn)
2g.102451968A>GCA427843881IL18RAPc.1587A>G (p.Lys529=)
c.1161A>G (p.Lys387=)
c.729A>G (p.Lys243=)
2g.102451968A>TCA347948017IL18RAPc.1587A>T (p.Lys529Asn)
c.1161A>T (p.Lys387Asn)
c.729A>T (p.Lys243Asn)
 COSMIC
2g.102451969G>ACA347948020IL18RAPc.1588G>A (p.Ala530Thr)
c.1162G>A (p.Ala388Thr)
c.730G>A (p.Ala244Thr)
2g.102451969G>CCA347948022IL18RAPc.1588G>C (p.Ala530Pro)
c.1162G>C (p.Ala388Pro)
c.730G>C (p.Ala244Pro)
 dbSNP
2g.102451969G=CA1275266778IL18RAPc.1588G= (p.Ala530=)
c.1162G= (p.Ala388=)
c.730G= (p.Ala244=)
2g.102451969G>TCA1810661IL18RAPc.1588G>T (p.Ala530Ser)
c.1162G>T (p.Ala388Ser)
c.730G>T (p.Ala244Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451970C>ACA347948028IL18RAPc.1589C>A (p.Ala530Asp)
c.1163C>A (p.Ala388Asp)
c.731C>A (p.Ala244Asp)
2g.102451970C>GCA347948031IL18RAPc.1589C>G (p.Ala530Gly)
c.1163C>G (p.Ala388Gly)
c.731C>G (p.Ala244Gly)
2g.102451970C>TCA347948033IL18RAPc.1589C>T (p.Ala530Val)
c.1163C>T (p.Ala388Val)
c.731C>T (p.Ala244Val)
2g.102451971T>ACA427843885IL18RAPc.1590T>A (p.Ala530=)
c.1164T>A (p.Ala388=)
c.732T>A (p.Ala244=)
2g.102451971T>CCA427843883IL18RAPc.1590T>C (p.Ala530=)
c.1164T>C (p.Ala388=)
c.732T>C (p.Ala244=)
2g.102451971T>GCA427843884IL18RAPc.1590T>G (p.Ala530=)
c.1164T>G (p.Ala388=)
c.732T>G (p.Ala244=)
2g.102451972C>ACA347948037IL18RAPc.1591C>A (p.Leu531Ile)
c.1165C>A (p.Leu389Ile)
c.733C>A (p.Leu245Ile)
2g.102451972C>GCA347948040IL18RAPc.1591C>G (p.Leu531Val)
c.1165C>G (p.Leu389Val)
c.733C>G (p.Leu245Val)
2g.102451972C>TCA347948042IL18RAPc.1591C>T (p.Leu531Phe)
c.1165C>T (p.Leu389Phe)
c.733C>T (p.Leu245Phe)
 gnomAD v4
2g.102451973T>ACA347948050IL18RAPc.1592T>A (p.Leu531His)
c.1166T>A (p.Leu389His)
c.734T>A (p.Leu245His)
2g.102451973T>CCA347948048IL18RAPc.1592T>C (p.Leu531Pro)
c.1166T>C (p.Leu389Pro)
c.734T>C (p.Leu245Pro)
2g.102451973T>GCA347948045IL18RAPc.1592T>G (p.Leu531Arg)
c.1166T>G (p.Leu389Arg)
c.734T>G (p.Leu245Arg)
2g.102451974C>ACA427843889IL18RAPc.1593C>A (p.Leu531=)
c.1167C>A (p.Leu389=)
c.735C>A (p.Leu245=)
2g.102451974C>GCA427843890IL18RAPc.1593C>G (p.Leu531=)
c.1167C>G (p.Leu389=)
c.735C>G (p.Leu245=)
2g.102451974C>TCA427843891IL18RAPc.1593C>T (p.Leu531=)
c.1167C>T (p.Leu389=)
c.735C>T (p.Leu245=)
2g.102451975A>CCA427843892IL18RAPc.1594A>C (p.Arg532=)
c.1168A>C (p.Arg390=)
c.736A>C (p.Arg246=)
2g.102451975A>GCA347948053IL18RAPc.1594A>G (p.Arg532Gly)
c.1168A>G (p.Arg390Gly)
c.736A>G (p.Arg246Gly)
 gnomAD v4
2g.102451975A>TCA347948055IL18RAPc.1594A>T (p.Arg532Trp)
c.1168A>T (p.Arg390Trp)
c.736A>T (p.Arg246Trp)
2g.102451976G>ACA347948058IL18RAPc.1595G>A (p.Arg532Lys)
c.1169G>A (p.Arg390Lys)
c.737G>A (p.Arg246Lys)
2g.102451976G>CCA347948060IL18RAPc.1595G>C (p.Arg532Thr)
c.1169G>C (p.Arg390Thr)
c.737G>C (p.Arg246Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451976G=CA1275266781IL18RAPc.1595G= (p.Arg532=)
c.1169G= (p.Arg390=)
c.737G= (p.Arg246=)
2g.102451976G>TCA347948062IL18RAPc.1595G>T (p.Arg532Met)
c.1169G>T (p.Arg390Met)
c.737G>T (p.Arg246Met)
2g.102451977G>ACA427843893IL18RAPc.1596G>A (p.Arg532=)
c.1170G>A (p.Arg390=)
c.738G>A (p.Arg246=)
 dbSNP gnomAD v3 gnomAD v4
2g.102451977G>CCA347948064IL18RAPc.1596G>C (p.Arg532Ser)
c.1170G>C (p.Arg390Ser)
c.738G>C (p.Arg246Ser)
2g.102451977G=CA1275266784IL18RAPc.1596G= (p.Arg532=)
c.1170G= (p.Arg390=)
c.738G= (p.Arg246=)
2g.102451977G>TCA347948067IL18RAPc.1596G>T (p.Arg532Ser)
c.1170G>T (p.Arg390Ser)
c.738G>T (p.Arg246Ser)
2g.102451978G>ACA347948070IL18RAPc.1597G>A (p.Val533Ile)
c.1171G>A (p.Val391Ile)
c.739G>A (p.Val247Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.102451978G>CCA347948072IL18RAPc.1597G>C (p.Val533Leu)
c.1171G>C (p.Val391Leu)
c.739G>C (p.Val247Leu)
2g.102451978G=CA1275266786IL18RAPc.1597G= (p.Val533=)
c.1171G= (p.Val391=)
c.739G= (p.Val247=)
2g.102451978G>TCA347948073IL18RAPc.1597G>T (p.Val533Phe)
c.1171G>T (p.Val391Phe)
c.739G>T (p.Val247Phe)
 COSMIC
2g.102451979T>ACA347948074IL18RAPc.1598T>A (p.Val533Asp)
c.1172T>A (p.Val391Asp)
c.740T>A (p.Val247Asp)
2g.102451979T>CCA1810662IL18RAPc.1598T>C (p.Val533Ala)
c.1172T>C (p.Val391Ala)
c.740T>C (p.Val247Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451979T>GCA347948078IL18RAPc.1598T>G (p.Val533Gly)
c.1172T>G (p.Val391Gly)
c.740T>G (p.Val247Gly)
2g.102451979T=CA1275266788IL18RAPc.1598T= (p.Val533=)
c.1172T= (p.Val391=)
c.740T= (p.Val247=)
2g.102451980T>ACA427843894IL18RAPc.1599T>A (p.Val533=)
c.1173T>A (p.Val391=)
c.741T>A (p.Val247=)
2g.102451980T>CCA427843895IL18RAPc.1599T>C (p.Val533=)
c.1173T>C (p.Val391=)
c.741T>C (p.Val247=)
2g.102451980T>GCA427843896IL18RAPc.1599T>G (p.Val533=)
c.1173T>G (p.Val391=)
c.741T>G (p.Val247=)
2g.102451981T>ACA347948084IL18RAPc.1600T>A (p.Leu534Met)
c.1174T>A (p.Leu392Met)
c.742T>A (p.Leu248Met)
2g.102451981T>CCA427843897IL18RAPc.1600T>C (p.Leu534=)
c.1174T>C (p.Leu392=)
c.742T>C (p.Leu248=)
2g.102451981T>GCA347948082IL18RAPc.1600T>G (p.Leu534Val)
c.1174T>G (p.Leu392Val)
c.742T>G (p.Leu248Val)
2g.102451982T>ACA347948087IL18RAPc.1601T>A (p.Leu534Ter)
c.1175T>A (p.Leu392Ter)
c.743T>A (p.Leu248Ter)
2g.102451982T>CCA347948089IL18RAPc.1601T>C (p.Leu534Ser)
c.1175T>C (p.Leu392Ser)
c.743T>C (p.Leu248Ser)
2g.102451982T>GCA347948091IL18RAPc.1601T>G (p.Leu534Trp)
c.1175T>G (p.Leu392Trp)
c.743T>G (p.Leu248Trp)
2g.102451983G>ACA427843901IL18RAPc.1602G>A (p.Leu534=)
c.1176G>A (p.Leu392=)
c.744G>A (p.Leu248=)
2g.102451983G>CCA347948095IL18RAPc.1602G>C (p.Leu534Phe)
c.1176G>C (p.Leu392Phe)
c.744G>C (p.Leu248Phe)
2g.102451983G>TCA347948097IL18RAPc.1602G>T (p.Leu534Phe)
c.1176G>T (p.Leu392Phe)
c.744G>T (p.Leu248Phe)
2g.102451984C>ACA347948103IL18RAPc.1603C>A (p.Pro535Thr)
c.1177C>A (p.Pro393Thr)
c.745C>A (p.Pro249Thr)
2g.102451984C=CA1275266790IL18RAPc.1603C= (p.Pro535=)
c.1177C= (p.Pro393=)
c.745C= (p.Pro249=)
2g.102451984C>GCA347948100IL18RAPc.1603C>G (p.Pro535Ala)
c.1177C>G (p.Pro393Ala)
c.745C>G (p.Pro249Ala)
2g.102451984C>TCA52936220IL18RAPc.1603C>T (p.Pro535Ser)
c.1177C>T (p.Pro393Ser)
c.745C>T (p.Pro249Ser)
 dbSNP
2g.102451986delCA2660480966IL18RAPc.1605del (p.Thr536GlnfsTer7)
c.1179del (p.Thr394GlnfsTer7)
c.747del (p.Thr250GlnfsTer7)
 gnomAD v4
2g.102451985C>ACA347948106IL18RAPc.1604C>A (p.Pro535His)
c.1178C>A (p.Pro393His)
c.746C>A (p.Pro249His)
2g.102451985C>GCA347948108IL18RAPc.1604C>G (p.Pro535Arg)
c.1178C>G (p.Pro393Arg)
c.746C>G (p.Pro249Arg)
2g.102451985C>TCA347948110IL18RAPc.1604C>T (p.Pro535Leu)
c.1178C>T (p.Pro393Leu)
c.746C>T (p.Pro249Leu)
2g.102451986C>ACA427843902IL18RAPc.1605C>A (p.Pro535=)
c.1179C>A (p.Pro393=)
c.747C>A (p.Pro249=)
 dbSNP gnomAD v4
2g.102451986C=CA1275266798IL18RAPc.1605C= (p.Pro535=)
c.1179C= (p.Pro393=)
c.747C= (p.Pro249=)
2g.102451986C>GCA427843904IL18RAPc.1605C>G (p.Pro535=)
c.1179C>G (p.Pro393=)
c.747C>G (p.Pro249=)
2g.102451986C>TCA427843906IL18RAPc.1605C>T (p.Pro535=)
c.1179C>T (p.Pro393=)
c.747C>T (p.Pro249=)
 gnomAD v4
2g.102451987A>CCA347948116IL18RAPc.1606A>C (p.Thr536Pro)
c.1180A>C (p.Thr394Pro)
c.748A>C (p.Thr250Pro)
2g.102451987A>GCA347948118IL18RAPc.1606A>G (p.Thr536Ala)
c.1180A>G (p.Thr394Ala)
c.748A>G (p.Thr250Ala)
2g.102451987A>TCA347948120IL18RAPc.1606A>T (p.Thr536Ser)
c.1180A>T (p.Thr394Ser)
c.748A>T (p.Thr250Ser)
2g.102451988C>ACA347948128IL18RAPc.1607C>A (p.Thr536Lys)
c.1181C>A (p.Thr394Lys)
c.749C>A (p.Thr250Lys)
2g.102451988C>GCA347948124IL18RAPc.1607C>G (p.Thr536Arg)
c.1181C>G (p.Thr394Arg)
c.749C>G (p.Thr250Arg)
2g.102451988C>TCA347948126IL18RAPc.1607C>T (p.Thr536Ile)
c.1181C>T (p.Thr394Ile)
c.749C>T (p.Thr250Ile)
2g.102451989A>CCA427843908IL18RAPc.1608A>C (p.Thr536=)
c.1182A>C (p.Thr394=)
c.750A>C (p.Thr250=)
2g.102451989A>GCA427843909IL18RAPc.1608A>G (p.Thr536=)
c.1182A>G (p.Thr394=)
c.750A>G (p.Thr250=)
2g.102451989A>TCA427843910IL18RAPc.1608A>T (p.Thr536=)
c.1182A>T (p.Thr394=)
c.750A>T (p.Thr250=)
2g.102451990G>ACA347948131IL18RAPc.1609G>A (p.Val537Ile)
c.1183G>A (p.Val395Ile)
c.751G>A (p.Val251Ile)
2g.102451990G>CCA347948134IL18RAPc.1609G>C (p.Val537Leu)
c.1183G>C (p.Val395Leu)
c.751G>C (p.Val251Leu)
2g.102451990G=CA1275266804IL18RAPc.1609G= (p.Val537=)
c.1183G= (p.Val395=)
c.751G= (p.Val251=)
2g.102451990G>TCA1810663IL18RAPc.1609G>T (p.Val537Phe)
c.1183G>T (p.Val395Phe)
c.751G>T (p.Val251Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451991T>ACA347948138IL18RAPc.1610T>A (p.Val537Asp)
c.1184T>A (p.Val395Asp)
c.752T>A (p.Val251Asp)
2g.102451991T>CCA347948142IL18RAPc.1610T>C (p.Val537Ala)
c.1184T>C (p.Val395Ala)
c.752T>C (p.Val251Ala)
2g.102451991T>GCA347948144IL18RAPc.1610T>G (p.Val537Gly)
c.1184T>G (p.Val395Gly)
c.752T>G (p.Val251Gly)
2g.102451992T>ACA427843914IL18RAPc.1611T>A (p.Val537=)
c.1185T>A (p.Val395=)
c.753T>A (p.Val251=)
2g.102451992T>CCA427843912IL18RAPc.1611T>C (p.Val537=)
c.1185T>C (p.Val395=)
c.753T>C (p.Val251=)
2g.102451992T>GCA427843913IL18RAPc.1611T>G (p.Val537=)
c.1185T>G (p.Val395=)
c.753T>G (p.Val251=)
2g.102451993A=CA1275266811IL18RAPc.1612A= (p.Thr538=)
c.1186A= (p.Thr396=)
c.754A= (p.Thr252=)
2g.102451993A>CCA347948148IL18RAPc.1612A>C (p.Thr538Pro)
c.1186A>C (p.Thr396Pro)
c.754A>C (p.Thr252Pro)
2g.102451993A>GCA347948150IL18RAPc.1612A>G (p.Thr538Ala)
c.1186A>G (p.Thr396Ala)
c.754A>G (p.Thr252Ala)
 dbSNP gnomAD v4
2g.102451993A>TCA347948152IL18RAPc.1612A>T (p.Thr538Ser)
c.1186A>T (p.Thr396Ser)
c.754A>T (p.Thr252Ser)
2g.102451994C>ACA347948155IL18RAPc.1613C>A (p.Thr538Asn)
c.1187C>A (p.Thr396Asn)
c.755C>A (p.Thr252Asn)
2g.102451994C>GCA347948158IL18RAPc.1613C>G (p.Thr538Ser)
c.1187C>G (p.Thr396Ser)
c.755C>G (p.Thr252Ser)
2g.102451994C>TCA347948161IL18RAPc.1613C>T (p.Thr538Ile)
c.1187C>T (p.Thr396Ile)
c.755C>T (p.Thr252Ile)
2g.102451995T>ACA427843915IL18RAPc.1614T>A (p.Thr538=)
c.1188T>A (p.Thr396=)
c.756T>A (p.Thr252=)
2g.102451995T>CCA427843916IL18RAPc.1614T>C (p.Thr538=)
c.1188T>C (p.Thr396=)
c.756T>C (p.Thr252=)
 dbSNP gnomAD v2 gnomAD v4
2g.102451995T>GCA427843917IL18RAPc.1614T>G (p.Thr538=)
c.1188T>G (p.Thr396=)
c.756T>G (p.Thr252=)
2g.102451995T=CA1275266814IL18RAPc.1614T= (p.Thr538=)
c.1188T= (p.Thr396=)
c.756T= (p.Thr252=)
2g.102451996T>ACA347948164IL18RAPc.1615T>A (p.Trp539Arg)
c.1189T>A (p.Trp397Arg)
c.757T>A (p.Trp253Arg)
2g.102451996T>CCA347948169IL18RAPc.1615T>C (p.Trp539Arg)
c.1189T>C (p.Trp397Arg)
c.757T>C (p.Trp253Arg)
 gnomAD v4
2g.102451996T>GCA347948167IL18RAPc.1615T>G (p.Trp539Gly)
c.1189T>G (p.Trp397Gly)
c.757T>G (p.Trp253Gly)
2g.102451997G>ACA347948172IL18RAPc.1616G>A (p.Trp539Ter)
c.1190G>A (p.Trp397Ter)
c.758G>A (p.Trp253Ter)
2g.102451997G>CCA347948177IL18RAPc.1616G>C (p.Trp539Ser)
c.1190G>C (p.Trp397Ser)
c.758G>C (p.Trp253Ser)
2g.102451997G>TCA347948176IL18RAPc.1616G>T (p.Trp539Leu)
c.1190G>T (p.Trp397Leu)
c.758G>T (p.Trp253Leu)
2g.102451998G>ACA347948181IL18RAPc.1617G>A (p.Trp539Ter)
c.1191G>A (p.Trp397Ter)
c.759G>A (p.Trp253Ter)
2g.102451998G>CCA347948184IL18RAPc.1617G>C (p.Trp539Cys)
c.1191G>C (p.Trp397Cys)
c.759G>C (p.Trp253Cys)
2g.102451998G>TCA347948186IL18RAPc.1617G>T (p.Trp539Cys)
c.1191G>T (p.Trp397Cys)
c.759G>T (p.Trp253Cys)
2g.102451999A>CCA427843921IL18RAPc.1618A>C (p.Arg540=)
c.1192A>C (p.Arg398=)
c.760A>C (p.Arg254=)
2g.102451999A>GCA347948187IL18RAPc.1618A>G (p.Arg540Gly)
c.1192A>G (p.Arg398Gly)
c.760A>G (p.Arg254Gly)
2g.102451999A>TCA347948188IL18RAPc.1618A>T (p.Arg540Ter)
c.1192A>T (p.Arg398Ter)
c.760A>T (p.Arg254Ter)
2g.102452000G>ACA347948189IL18RAPc.1619G>A (p.Arg540Lys)
c.1193G>A (p.Arg398Lys)
c.761G>A (p.Arg254Lys)
 gnomAD v4
2g.102452000G>CCA347948190IL18RAPc.1619G>C (p.Arg540Thr)
c.1193G>C (p.Arg398Thr)
c.761G>C (p.Arg254Thr)
 gnomAD v4
2g.102452000G>TCA347948192IL18RAPc.1619G>T (p.Arg540Ile)
c.1193G>T (p.Arg398Ile)
c.761G>T (p.Arg254Ile)
2g.102452001A=CA1275266816IL18RAPc.1620A= (p.Arg540=)
c.1194A= (p.Arg398=)
c.762A= (p.Arg254=)
2g.102452001A>CCA347948195IL18RAPc.1620A>C (p.Arg540Ser)
c.1194A>C (p.Arg398Ser)
c.762A>C (p.Arg254Ser)
2g.102452001A>GCA427843925IL18RAPc.1620A>G (p.Arg540=)
c.1194A>G (p.Arg398=)
c.762A>G (p.Arg254=)
 dbSNP
2g.102452001A>TCA347948197IL18RAPc.1620A>T (p.Arg540Ser)
c.1194A>T (p.Arg398Ser)
c.762A>T (p.Arg254Ser)
2g.102452002G>ACA347948205IL18RAPc.1621G>A (p.Gly541Ser)
c.1195G>A (p.Gly399Ser)
c.763G>A (p.Gly255Ser)
 gnomAD v4
2g.102452002G>CCA347948202IL18RAPc.1621G>C (p.Gly541Arg)
c.1195G>C (p.Gly399Arg)
c.763G>C (p.Gly255Arg)
2g.102452002G>TCA347948200IL18RAPc.1621G>T (p.Gly541Cys)
c.1195G>T (p.Gly399Cys)
c.763G>T (p.Gly255Cys)
2g.102452003G>ACA347948208IL18RAPc.1622G>A (p.Gly541Asp)
c.1196G>A (p.Gly399Asp)
c.764G>A (p.Gly255Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102452003G>CCA347948210IL18RAPc.1622G>C (p.Gly541Ala)
c.1196G>C (p.Gly399Ala)
c.764G>C (p.Gly255Ala)
2g.102452003G=CA1275266820IL18RAPc.1622G= (p.Gly541=)
c.1196G= (p.Gly399=)
c.764G= (p.Gly255=)
2g.102452003G>TCA347948213IL18RAPc.1622G>T (p.Gly541Val)
c.1196G>T (p.Gly399Val)
c.764G>T (p.Gly255Val)
2g.102452004C>ACA427843926IL18RAPc.1623C>A (p.Gly541=)
c.1197C>A (p.Gly399=)
c.765C>A (p.Gly255=)
2g.102452004C>GCA427843928IL18RAPc.1623C>G (p.Gly541=)
c.1197C>G (p.Gly399=)
c.765C>G (p.Gly255=)
2g.102452004C>TCA427843929IL18RAPc.1623C>T (p.Gly541=)
c.1197C>T (p.Gly399=)
c.765C>T (p.Gly255=)
 gnomAD v4
2g.102452005T>ACA347948216IL18RAPc.1624T>A (p.Leu542Ile)
c.1198T>A (p.Leu400Ile)
c.766T>A (p.Leu256Ile)
2g.102452005T>CCA427843930IL18RAPc.1624T>C (p.Leu542=)
c.1198T>C (p.Leu400=)
c.766T>C (p.Leu256=)
2g.102452005T>GCA347948218IL18RAPc.1624T>G (p.Leu542Val)
c.1198T>G (p.Leu400Val)
c.766T>G (p.Leu256Val)
2g.102452006T>ACA347948221IL18RAPc.1625T>A (p.Leu542Ter)
c.1199T>A (p.Leu400Ter)
c.767T>A (p.Leu256Ter)
2g.102452006T>CCA347948224IL18RAPc.1625T>C (p.Leu542Ser)
c.1199T>C (p.Leu400Ser)
c.767T>C (p.Leu256Ser)
2g.102452006T>GCA347948226IL18RAPc.1625T>G (p.Leu542Ter)
c.1199T>G (p.Leu400Ter)
c.767T>G (p.Leu256Ter)
2g.102452007A=CA1275266821IL18RAPc.1626A= (p.Leu542=)
c.1200A= (p.Leu400=)
c.768A= (p.Leu256=)
2g.102452007A>CCA347948229IL18RAPc.1626A>C (p.Leu542Phe)
c.1200A>C (p.Leu400Phe)
c.768A>C (p.Leu256Phe)
2g.102452007A>GCA52936232IL18RAPc.1626A>G (p.Leu542=)
c.1200A>G (p.Leu400=)
c.768A>G (p.Leu256=)
 dbSNP gnomAD v3 gnomAD v4
2g.102452007A>TCA347948245IL18RAPc.1626A>T (p.Leu542Phe)
c.1200A>T (p.Leu400Phe)
c.768A>T (p.Leu256Phe)
2g.102452010delCA2577058076IL18RAPc.1629del (p.Lys543AsnfsTer19)
c.1203del (p.Lys401AsnfsTer19)
c.771del (p.Lys257AsnfsTer19)
2g.102452008A=CA1275266826IL18RAPc.1627A= (p.Lys543=)
c.1201A= (p.Lys401=)
c.769A= (p.Lys257=)
2g.102452008A>CCA347948249IL18RAPc.1627A>C (p.Lys543Gln)
c.1201A>C (p.Lys401Gln)
c.769A>C (p.Lys257Gln)
2g.102452008A>GCA1810664IL18RAPc.1627A>G (p.Lys543Glu)
c.1201A>G (p.Lys401Glu)
c.769A>G (p.Lys257Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102452008A>TCA347948248IL18RAPc.1627A>T (p.Lys543Ter)
c.1201A>T (p.Lys401Ter)
c.769A>T (p.Lys257Ter)
2g.102452009A>CCA347948253IL18RAPc.1628A>C (p.Lys543Thr)
c.1202A>C (p.Lys401Thr)
c.770A>C (p.Lys257Thr)
 gnomAD v4
2g.102452009A>GCA347948256IL18RAPc.1628A>G (p.Lys543Arg)
c.1202A>G (p.Lys401Arg)
c.770A>G (p.Lys257Arg)
2g.102452009A>TCA347948258IL18RAPc.1628A>T (p.Lys543Ile)
c.1202A>T (p.Lys401Ile)
c.770A>T (p.Lys257Ile)
2g.102452010A>CCA347948262IL18RAPc.1629A>C (p.Lys543Asn)
c.1203A>C (p.Lys401Asn)
c.771A>C (p.Lys257Asn)
2g.102452010A>GCA427843933IL18RAPc.1629A>G (p.Lys543=)
c.1203A>G (p.Lys401=)
c.771A>G (p.Lys257=)
2g.102452010A>TCA347948263IL18RAPc.1629A>T (p.Lys543Asn)
c.1203A>T (p.Lys401Asn)
c.771A>T (p.Lys257Asn)
2g.102452011T>ACA347948267IL18RAPc.1630T>A (p.Ser544Thr)
c.1204T>A (p.Ser402Thr)
c.772T>A (p.Ser258Thr)
2g.102452011T>CCA347948269IL18RAPc.1630T>C (p.Ser544Pro)
c.1204T>C (p.Ser402Pro)
c.772T>C (p.Ser258Pro)
2g.102452011T>GCA347948272IL18RAPc.1630T>G (p.Ser544Ala)
c.1204T>G (p.Ser402Ala)
c.772T>G (p.Ser258Ala)
2g.102452012C>ACA347948276IL18RAPc.1631C>A (p.Ser544Ter)
c.1205C>A (p.Ser402Ter)
c.773C>A (p.Ser258Ter)
 COSMIC
2g.102452012C>GCA347948278IL18RAPc.1631C>G (p.Ser544Ter)
c.1205C>G (p.Ser402Ter)
c.773C>G (p.Ser258Ter)
2g.102452012C>TCA347948280IL18RAPc.1631C>T (p.Ser544Leu)
c.1205C>T (p.Ser402Leu)
c.773C>T (p.Ser258Leu)
2g.102452013A=CA1275266830IL18RAPc.1632A= (p.Ser544=)
c.1206A= (p.Ser402=)
c.774A= (p.Ser258=)
2g.102452013A>CCA1810666IL18RAPc.1632A>C (p.Ser544=)
c.1206A>C (p.Ser402=)
c.774A>C (p.Ser258=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.102452013A>GCA427843934IL18RAPc.1632A>G (p.Ser544=)
c.1206A>G (p.Ser402=)
c.774A>G (p.Ser258=)
2g.102452013A>TCA1810665IL18RAPc.1632A>T (p.Ser544=)
c.1206A>T (p.Ser402=)
c.774A>T (p.Ser258=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102452014G>ACA347948288IL18RAPc.1633G>A (p.Val545Ile)
c.1207G>A (p.Val403Ile)
c.775G>A (p.Val259Ile)
2g.102452014G>CCA347948286IL18RAPc.1633G>C (p.Val545Leu)
c.1207G>C (p.Val403Leu)
c.775G>C (p.Val259Leu)
2g.102452014G>TCA347948283IL18RAPc.1633G>T (p.Val545Phe)
c.1207G>T (p.Val403Phe)
c.775G>T (p.Val259Phe)
2g.102452015T>ACA347948291IL18RAPc.1634T>A (p.Val545Asp)
c.1208T>A (p.Val403Asp)
c.776T>A (p.Val259Asp)
2g.102452015T>CCA347948294IL18RAPc.1634T>C (p.Val545Ala)
c.1208T>C (p.Val403Ala)
c.776T>C (p.Val259Ala)
2g.102452015T>GCA347948296IL18RAPc.1634T>G (p.Val545Gly)
c.1208T>G (p.Val403Gly)
c.776T>G (p.Val259Gly)
2g.102452016T>ACA427843936IL18RAPc.1635T>A (p.Val545=)
c.1209T>A (p.Val403=)
c.777T>A (p.Val259=)
2g.102452016T>CCA427843937IL18RAPc.1635T>C (p.Val545=)
c.1209T>C (p.Val403=)
c.777T>C (p.Val259=)
2g.102452016T>GCA427843938IL18RAPc.1635T>G (p.Val545=)
c.1209T>G (p.Val403=)
c.777T>G (p.Val259=)
 gnomAD v4
2g.102452017C>ACA347948299IL18RAPc.1636C>A (p.Pro546Thr)
c.1210C>A (p.Pro404Thr)
c.778C>A (p.Pro260Thr)
2g.102452017C>GCA347948301IL18RAPc.1636C>G (p.Pro546Ala)
c.1210C>G (p.Pro404Ala)
c.778C>G (p.Pro260Ala)
2g.102452017C>TCA347948303IL18RAPc.1636C>T (p.Pro546Ser)
c.1210C>T (p.Pro404Ser)
c.778C>T (p.Pro260Ser)
2g.102452018C>ACA347948307IL18RAPc.1637C>A (p.Pro546His)
c.1211C>A (p.Pro404His)
c.779C>A (p.Pro260His)
2g.102452018C>GCA347948309IL18RAPc.1637C>G (p.Pro546Arg)
c.1211C>G (p.Pro404Arg)
c.779C>G (p.Pro260Arg)
2g.102452018C>TCA347948311IL18RAPc.1637C>T (p.Pro546Leu)
c.1211C>T (p.Pro404Leu)
c.779C>T (p.Pro260Leu)
 COSMIC
2g.102452019T>ACA427843940IL18RAPc.1638T>A (p.Pro546=)
c.1212T>A (p.Pro404=)
c.780T>A (p.Pro260=)
2g.102452019T>CCA427843941IL18RAPc.1638T>C (p.Pro546=)
c.1212T>C (p.Pro404=)
c.780T>C (p.Pro260=)
2g.102452019T>GCA427843939IL18RAPc.1638T>G (p.Pro546=)
c.1212T>G (p.Pro404=)
c.780T>G (p.Pro260=)
2g.102452019_102452020delinsTCCA1275266832IL18RAPc.1638_1639delinsTC (p.Pro546=)
c.1212_1213delinsTC (p.Pro404=)
c.780_781delinsTC (p.Pro260=)
2g.102452020C>ACA347948312IL18RAPc.1639C>A (p.Pro547Thr)
c.1213C>A (p.Pro405Thr)
c.781C>A (p.Pro261Thr)
2g.102452020C>GCA347948313IL18RAPc.1639C>G (p.Pro547Ala)
c.1213C>G (p.Pro405Ala)
c.781C>G (p.Pro261Ala)
2g.102452020C>TCA347948314IL18RAPc.1639C>T (p.Pro547Ser)
c.1213C>T (p.Pro405Ser)
c.781C>T (p.Pro261Ser)
 gnomAD v4
2g.102452022delCA1275266835IL18RAPc.1641del (p.Asn548IlefsTer14)
c.1215del (p.Asn406IlefsTer14)
c.783del (p.Asn262IlefsTer14)
 dbSNP
2g.102452021C>ACA347948320IL18RAPc.1640C>A (p.Pro547His)
c.1214C>A (p.Pro405His)
c.782C>A (p.Pro261His)
2g.102452021C>GCA347948318IL18RAPc.1640C>G (p.Pro547Arg)
c.1214C>G (p.Pro405Arg)
c.782C>G (p.Pro261Arg)
2g.102452021C>TCA347948316IL18RAPc.1640C>T (p.Pro547Leu)
c.1214C>T (p.Pro405Leu)
c.782C>T (p.Pro261Leu)
2g.102452022C>ACA427843948IL18RAPc.1641C>A (p.Pro547=)
c.1215C>A (p.Pro405=)
c.783C>A (p.Pro261=)
 gnomAD v4
2g.102452022C>GCA427843945IL18RAPc.1641C>G (p.Pro547=)
c.1215C>G (p.Pro405=)
c.783C>G (p.Pro261=)
2g.102452022C>TCA427843947IL18RAPc.1641C>T (p.Pro547=)
c.1215C>T (p.Pro405=)
c.783C>T (p.Pro261=)
 COSMIC
2g.102452023A=CA1275266838IL18RAPc.1642A= (p.Asn548=)
c.1216A= (p.Asn406=)
c.784A= (p.Asn262=)
2g.102452023A>CCA347948322IL18RAPc.1642A>C (p.Asn548His)
c.1216A>C (p.Asn406His)
c.784A>C (p.Asn262His)
2g.102452023A>GCA1810667IL18RAPc.1642A>G (p.Asn548Asp)
c.1216A>G (p.Asn406Asp)
c.784A>G (p.Asn262Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102452023A>TCA347948325IL18RAPc.1642A>T (p.Asn548Tyr)
c.1216A>T (p.Asn406Tyr)
c.784A>T (p.Asn262Tyr)
2g.102452024A>CCA347948329IL18RAPc.1643A>C (p.Asn548Thr)
c.1217A>C (p.Asn406Thr)
c.785A>C (p.Asn262Thr)
2g.102452024A>GCA347948330IL18RAPc.1643A>G (p.Asn548Ser)
c.1217A>G (p.Asn406Ser)
c.785A>G (p.Asn262Ser)
 gnomAD v4
2g.102452024A>TCA347948331IL18RAPc.1643A>T (p.Asn548Ile)
c.1217A>T (p.Asn406Ile)
c.785A>T (p.Asn262Ile)
2g.102452025T>ACA347948334IL18RAPc.1644T>A (p.Asn548Lys)
c.1218T>A (p.Asn406Lys)
c.786T>A (p.Asn262Lys)
2g.102452025T>CCA427843949IL18RAPc.1644T>C (p.Asn548=)
c.1218T>C (p.Asn406=)
c.786T>C (p.Asn262=)
2g.102452025T>GCA347948336IL18RAPc.1644T>G (p.Asn548Lys)
c.1218T>G (p.Asn406Lys)
c.786T>G (p.Asn262Lys)
2g.102452026T>ACA347948339IL18RAPc.1645T>A (p.Ser549Thr)
c.1219T>A (p.Ser407Thr)
c.787T>A (p.Ser263Thr)
2g.102452026T>CCA347948341IL18RAPc.1645T>C (p.Ser549Pro)
c.1219T>C (p.Ser407Pro)
c.787T>C (p.Ser263Pro)
2g.102452026T>GCA347948343IL18RAPc.1645T>G (p.Ser549Ala)
c.1219T>G (p.Ser407Ala)
c.787T>G (p.Ser263Ala)
2g.102452027C>ACA347948345IL18RAPc.1646C>A (p.Ser549Tyr)
c.1220C>A (p.Ser407Tyr)
c.788C>A (p.Ser263Tyr)
2g.102452027C>GCA347948347IL18RAPc.1646C>G (p.Ser549Cys)
c.1220C>G (p.Ser407Cys)
c.788C>G (p.Ser263Cys)
2g.102452027C>TCA347948350IL18RAPc.1646C>T (p.Ser549Phe)
c.1220C>T (p.Ser407Phe)
c.788C>T (p.Ser263Phe)
2g.102452028T>ACA427843952IL18RAPc.1647T>A (p.Ser549=)
c.1221T>A (p.Ser407=)
c.789T>A (p.Ser263=)
2g.102452028T>CCA427843953IL18RAPc.1647T>C (p.Ser549=)
c.1221T>C (p.Ser407=)
c.789T>C (p.Ser263=)
2g.102452028T>GCA427843954IL18RAPc.1647T>G (p.Ser549=)
c.1221T>G (p.Ser407=)
c.789T>G (p.Ser263=)
2g.102452029A>CCA427843955IL18RAPc.1648A>C (p.Arg550=)
c.1222A>C (p.Arg408=)
c.790A>C (p.Arg264=)
2g.102452029A>GCA347948353IL18RAPc.1648A>G (p.Arg550Gly)
c.1222A>G (p.Arg408Gly)
c.790A>G (p.Arg264Gly)
2g.102452029A>TCA347948355IL18RAPc.1648A>T (p.Arg550Trp)
c.1222A>T (p.Arg408Trp)
c.790A>T (p.Arg264Trp)
2g.102452030G>ACA1810668IL18RAPc.1649G>A (p.Arg550Lys)
c.1223G>A (p.Arg408Lys)
c.791G>A (p.Arg264Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102452030G>CCA347948360IL18RAPc.1649G>C (p.Arg550Thr)
c.1223G>C (p.Arg408Thr)
c.791G>C (p.Arg264Thr)
 gnomAD v4
2g.102452030G=CA1275266840IL18RAPc.1649G= (p.Arg550=)
c.1223G= (p.Arg408=)
c.791G= (p.Arg264=)
2g.102452030G>TCA347948358IL18RAPc.1649G>T (p.Arg550Met)
c.1223G>T (p.Arg408Met)
c.791G>T (p.Arg264Met)
 COSMIC
2g.102452031G>ACA427843957IL18RAPc.1650G>A (p.Arg550=)
c.1224G>A (p.Arg408=)
c.792G>A (p.Arg264=)
 gnomAD v4
2g.102452031G>CCA347948365IL18RAPc.1650G>C (p.Arg550Ser)
c.1224G>C (p.Arg408Ser)
c.792G>C (p.Arg264Ser)
2g.102452031G>TCA347948367IL18RAPc.1650G>T (p.Arg550Ser)
c.1224G>T (p.Arg408Ser)
c.792G>T (p.Arg264Ser)
2g.102452032T>ACA347948369IL18RAPc.1651T>A (p.Phe551Ile)
c.1225T>A (p.Phe409Ile)
c.793T>A (p.Phe265Ile)
2g.102452032T>CCA347948372IL18RAPc.1651T>C (p.Phe551Leu)
c.1225T>C (p.Phe409Leu)
c.793T>C (p.Phe265Leu)
2g.102452032T>GCA347948374IL18RAPc.1651T>G (p.Phe551Val)
c.1225T>G (p.Phe409Val)
c.793T>G (p.Phe265Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102452032T=CA1275266843IL18RAPc.1651T= (p.Phe551=)
c.1225T= (p.Phe409=)
c.793T= (p.Phe265=)
2g.102452033T>ACA347948377IL18RAPc.1652T>A (p.Phe551Tyr)
c.1226T>A (p.Phe409Tyr)
c.794T>A (p.Phe265Tyr)
2g.102452033T>CCA347948378IL18RAPc.1652T>C (p.Phe551Ser)
c.1226T>C (p.Phe409Ser)
c.794T>C (p.Phe265Ser)
2g.102452033T>GCA347948379IL18RAPc.1652T>G (p.Phe551Cys)
c.1226T>G (p.Phe409Cys)
c.794T>G (p.Phe265Cys)
2g.102452034C>ACA347948380IL18RAPc.1653C>A (p.Phe551Leu)
c.1227C>A (p.Phe409Leu)
c.795C>A (p.Phe265Leu)
2g.102452034C=CA1275266846IL18RAPc.1653C= (p.Phe551=)
c.1227C= (p.Phe409=)
c.795C= (p.Phe265=)
2g.102452034C>GCA347948382IL18RAPc.1653C>G (p.Phe551Leu)
c.1227C>G (p.Phe409Leu)
c.795C>G (p.Phe265Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.102452034C>TCA427843961IL18RAPc.1653C>T (p.Phe551=)
c.1227C>T (p.Phe409=)
c.795C>T (p.Phe265=)
2g.102452035T>ACA347948385IL18RAPc.1654T>A (p.Trp552Arg)
c.1228T>A (p.Trp410Arg)
c.796T>A (p.Trp266Arg)
2g.102452035T>CCA347948386IL18RAPc.1654T>C (p.Trp552Arg)
c.1228T>C (p.Trp410Arg)
c.796T>C (p.Trp266Arg)
2g.102452035T>GCA347948390IL18RAPc.1654T>G (p.Trp552Gly)
c.1228T>G (p.Trp410Gly)
c.796T>G (p.Trp266Gly)
2g.102452036G>ACA347948396IL18RAPc.1655G>A (p.Trp552Ter)
c.1229G>A (p.Trp410Ter)
c.797G>A (p.Trp266Ter)
2g.102452036G>CCA347948398IL18RAPc.1655G>C (p.Trp552Ser)
c.1229G>C (p.Trp410Ser)
c.797G>C (p.Trp266Ser)
2g.102452036G>TCA347948394IL18RAPc.1655G>T (p.Trp552Leu)
c.1229G>T (p.Trp410Leu)
c.797G>T (p.Trp266Leu)
2g.102452037G>ACA347948402IL18RAPc.1656G>A (p.Trp552Ter)
c.1230G>A (p.Trp410Ter)
c.798G>A (p.Trp266Ter)
 dbSNP
2g.102452037G>CCA347948404IL18RAPc.1656G>C (p.Trp552Cys)
c.1230G>C (p.Trp410Cys)
c.798G>C (p.Trp266Cys)
2g.102452037G=CA1275266849IL18RAPc.1656G= (p.Trp552=)
c.1230G= (p.Trp410=)
c.798G= (p.Trp266=)
2g.102452037G>TCA347948406IL18RAPc.1656G>T (p.Trp552Cys)
c.1230G>T (p.Trp410Cys)
c.798G>T (p.Trp266Cys)
 gnomAD v4
2g.102452038G>ACA347948408IL18RAPc.1657G>A (p.Ala553Thr)
c.1231G>A (p.Ala411Thr)
c.799G>A (p.Ala267Thr)
 dbSNP
2g.102452038G>CCA347948409IL18RAPc.1657G>C (p.Ala553Pro)
c.1231G>C (p.Ala411Pro)
c.799G>C (p.Ala267Pro)
2g.102452038G>TCA347948411IL18RAPc.1657G>T (p.Ala553Ser)
c.1231G>T (p.Ala411Ser)
c.799G>T (p.Ala267Ser)
2g.102452039C>ACA347948413IL18RAPc.1658C>A (p.Ala553Asp)
c.1232C>A (p.Ala411Asp)
c.800C>A (p.Ala267Asp)
 COSMIC
2g.102452039C>GCA347948416IL18RAPc.1658C>G (p.Ala553Gly)
c.1232C>G (p.Ala411Gly)
c.800C>G (p.Ala267Gly)
2g.102452039C>TCA347948418IL18RAPc.1658C>T (p.Ala553Val)
c.1232C>T (p.Ala411Val)
c.800C>T (p.Ala267Val)
2g.102452040C>ACA427843971IL18RAPc.1659C>A (p.Ala553=)
c.1233C>A (p.Ala411=)
c.801C>A (p.Ala267=)
2g.102452040C>GCA427843970IL18RAPc.1659C>G (p.Ala553=)
c.1233C>G (p.Ala411=)
c.801C>G (p.Ala267=)
2g.102452040C>TCA427843969IL18RAPc.1659C>T (p.Ala553=)
c.1233C>T (p.Ala411=)
c.801C>T (p.Ala267=)
2g.102452041A=CA1275266852IL18RAPc.1660A= (p.Lys554=)
c.1234A= (p.Lys412=)
c.802A= (p.Lys268=)
2g.102452041A>CCA347948428IL18RAPc.1660A>C (p.Lys554Gln)
c.1234A>C (p.Lys412Gln)
c.802A>C (p.Lys268Gln)
2g.102452041A>GCA347948436IL18RAPc.1660A>G (p.Lys554Glu)
c.1234A>G (p.Lys412Glu)
c.802A>G (p.Lys268Glu)
 dbSNP
2g.102452041A>TCA347948437IL18RAPc.1660A>T (p.Lys554Ter)
c.1234A>T (p.Lys412Ter)
c.802A>T (p.Lys268Ter)
2g.102452042A>CCA347948442IL18RAPc.1661A>C (p.Lys554Thr)
c.1235A>C (p.Lys412Thr)
c.803A>C (p.Lys268Thr)
2g.102452042A>GCA347948438IL18RAPc.1661A>G (p.Lys554Arg)
c.1235A>G (p.Lys412Arg)
c.803A>G (p.Lys268Arg)
2g.102452042A>TCA347948441IL18RAPc.1661A>T (p.Lys554Ile)
c.1235A>T (p.Lys412Ile)
c.803A>T (p.Lys268Ile)
2g.102452043A>CCA347948450IL18RAPc.1662A>C (p.Lys554Asn)
c.1236A>C (p.Lys412Asn)
c.804A>C (p.Lys268Asn)
2g.102452043A>GCA427843975IL18RAPc.1662A>G (p.Lys554=)
c.1236A>G (p.Lys412=)
c.804A>G (p.Lys268=)
2g.102452043A>TCA347948452IL18RAPc.1662A>T (p.Lys554Asn)
c.1236A>T (p.Lys412Asn)
c.804A>T (p.Lys268Asn)
2g.102452044A>CCA347948453IL18RAPc.1663A>C (p.Met555Leu)
c.1237A>C (p.Met413Leu)
c.805A>C (p.Met269Leu)
2g.102452044A>GCA347948455IL18RAPc.1663A>G (p.Met555Val)
c.1237A>G (p.Met413Val)
c.805A>G (p.Met269Val)
2g.102452044A>TCA347948457IL18RAPc.1663A>T (p.Met555Leu)
c.1237A>T (p.Met413Leu)
c.805A>T (p.Met269Leu)
2g.102452045T>ACA347948458IL18RAPc.1664T>A (p.Met555Lys)
c.1238T>A (p.Met413Lys)
c.806T>A (p.Met269Lys)
2g.102452045T>CCA347948459IL18RAPc.1664T>C (p.Met555Thr)
c.1238T>C (p.Met413Thr)
c.806T>C (p.Met269Thr)
2g.102452045T>GCA347948460IL18RAPc.1664T>G (p.Met555Arg)
c.1238T>G (p.Met413Arg)
c.806T>G (p.Met269Arg)
2g.102452046G>ACA1810669IL18RAPc.1665G>A (p.Met555Ile)
c.1239G>A (p.Met413Ile)
c.807G>A (p.Met269Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102452046G>CCA347948463IL18RAPc.1665G>C (p.Met555Ile)
c.1239G>C (p.Met413Ile)
c.807G>C (p.Met269Ile)
2g.102452046G=CA1275266855IL18RAPc.1665G= (p.Met555=)
c.1239G= (p.Met413=)
c.807G= (p.Met269=)
2g.102452046G>TCA347948465IL18RAPc.1665G>T (p.Met555Ile)
c.1239G>T (p.Met413Ile)
c.807G>T (p.Met269Ile)
 COSMIC

Number of alleles fetched