Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.102451848_102451851delCA2660480961IL18RAPc.1467_1470del (p.Ile491LeufsTer7)
c.1041_1044del (p.Ile349LeufsTer7)
c.609_612del (p.Ile205LeufsTer7)
gnomAD v4
2g.102451851T>ACA347947098IL18RAPc.1470T>A (p.Ser490Arg)
c.1044T>A (p.Ser348Arg)
c.612T>A (p.Ser204Arg)
2g.102451851T>CCA427843779IL18RAPc.1470T>C (p.Ser490=)
c.1044T>C (p.Ser348=)
c.612T>C (p.Ser204=)
2g.102451851T>GCA347947092IL18RAPc.1470T>G (p.Ser490Arg)
c.1044T>G (p.Ser348Arg)
c.612T>G (p.Ser204Arg)
2g.102451852A=CA1275266636IL18RAPc.1471A= (p.Ile491=)
c.1045A= (p.Ile349=)
c.613A= (p.Ile205=)
2g.102451852A>CCA347947101IL18RAPc.1471A>C (p.Ile491Leu)
c.1045A>C (p.Ile349Leu)
c.613A>C (p.Ile205Leu)
2g.102451852A>GCA347947118IL18RAPc.1471A>G (p.Ile491Val)
c.1045A>G (p.Ile349Val)
c.613A>G (p.Ile205Val)
dbSNP gnomAD v2 gnomAD v4
2g.102451852A>TCA347947122IL18RAPc.1471A>T (p.Ile491Phe)
c.1045A>T (p.Ile349Phe)
c.613A>T (p.Ile205Phe)
2g.102451853T>ACA347947125IL18RAPc.1472T>A (p.Ile491Asn)
c.1046T>A (p.Ile349Asn)
c.614T>A (p.Ile205Asn)
gnomAD v4
2g.102451853T>CCA347947127IL18RAPc.1472T>C (p.Ile491Thr)
c.1046T>C (p.Ile349Thr)
c.614T>C (p.Ile205Thr)
2g.102451853T>GCA347947128IL18RAPc.1472T>G (p.Ile491Ser)
c.1046T>G (p.Ile349Ser)
c.614T>G (p.Ile205Ser)
2g.102451854C>ACA427843780IL18RAPc.1473C>A (p.Ile491=)
c.1047C>A (p.Ile349=)
c.615C>A (p.Ile205=)
gnomAD v4
2g.102451854C>GCA347947129IL18RAPc.1473C>G (p.Ile491Met)
c.1047C>G (p.Ile349Met)
c.615C>G (p.Ile205Met)
2g.102451854C>TCA427843781IL18RAPc.1473C>T (p.Ile491=)
c.1047C>T (p.Ile349=)
c.615C>T (p.Ile205=)
COSMIC
2g.102451855T>ACA347947130IL18RAPc.1474T>A (p.Phe492Ile)
c.1048T>A (p.Phe350Ile)
c.616T>A (p.Phe206Ile)
2g.102451855T>CCA347947131IL18RAPc.1474T>C (p.Phe492Leu)
c.1048T>C (p.Phe350Leu)
c.616T>C (p.Phe206Leu)
2g.102451855T>GCA347947132IL18RAPc.1474T>G (p.Phe492Val)
c.1048T>G (p.Phe350Val)
c.616T>G (p.Phe206Val)
gnomAD v4
2g.102451856T>ACA347947135IL18RAPc.1475T>A (p.Phe492Tyr)
c.1049T>A (p.Phe350Tyr)
c.617T>A (p.Phe206Tyr)
2g.102451856T>CCA347947142IL18RAPc.1475T>C (p.Phe492Ser)
c.1049T>C (p.Phe350Ser)
c.617T>C (p.Phe206Ser)
2g.102451856T>GCA347947144IL18RAPc.1475T>G (p.Phe492Cys)
c.1049T>G (p.Phe350Cys)
c.617T>G (p.Phe206Cys)
2g.102451857T>ACA347947152IL18RAPc.1476T>A (p.Phe492Leu)
c.1050T>A (p.Phe350Leu)
c.618T>A (p.Phe206Leu)
2g.102451857T>CCA1810646IL18RAPc.1476T>C (p.Phe492=)
c.1050T>C (p.Phe350=)
c.618T>C (p.Phe206=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451857T>GCA347947149IL18RAPc.1476T>G (p.Phe492Leu)
c.1050T>G (p.Phe350Leu)
c.618T>G (p.Phe206Leu)
2g.102451857T=CA1275266639IL18RAPc.1476T= (p.Phe492=)
c.1050T= (p.Phe350=)
c.618T= (p.Phe206=)
2g.102451858delCA2660480962IL18RAPc.1477del (p.Glu493AsnfsTer6)
c.1051del (p.Glu351AsnfsTer6)
c.619del (p.Glu207AsnfsTer6)
gnomAD v4
2g.102451858G>ACA347947153IL18RAPc.1477G>A (p.Glu493Lys)
c.1051G>A (p.Glu351Lys)
c.619G>A (p.Glu207Lys)
2g.102451858G>CCA347947154IL18RAPc.1477G>C (p.Glu493Gln)
c.1051G>C (p.Glu351Gln)
c.619G>C (p.Glu207Gln)
2g.102451858G>TCA347947155IL18RAPc.1477G>T (p.Glu493Ter)
c.1051G>T (p.Glu351Ter)
c.619G>T (p.Glu207Ter)
2g.102451859A>CCA347947159IL18RAPc.1478A>C (p.Glu493Ala)
c.1052A>C (p.Glu351Ala)
c.620A>C (p.Glu207Ala)
2g.102451859A>GCA347947162IL18RAPc.1478A>G (p.Glu493Gly)
c.1052A>G (p.Glu351Gly)
c.620A>G (p.Glu207Gly)
2g.102451859A>TCA347947167IL18RAPc.1478A>T (p.Glu493Val)
c.1052A>T (p.Glu351Val)
c.620A>T (p.Glu207Val)
2g.102451860A>CCA347947171IL18RAPc.1479A>C (p.Glu493Asp)
c.1053A>C (p.Glu351Asp)
c.621A>C (p.Glu207Asp)
2g.102451860A>GCA427843782IL18RAPc.1479A>G (p.Glu493=)
c.1053A>G (p.Glu351=)
c.621A>G (p.Glu207=)
2g.102451860A>TCA347947174IL18RAPc.1479A>T (p.Glu493Asp)
c.1053A>T (p.Glu351Asp)
c.621A>T (p.Glu207Asp)
2g.102451861C>ACA347947177IL18RAPc.1480C>A (p.Leu494Ile)
c.1054C>A (p.Leu352Ile)
c.622C>A (p.Leu208Ile)
dbSNP
2g.102451861C=CA1275266641IL18RAPc.1480C= (p.Leu494=)
c.1054C= (p.Leu352=)
c.622C= (p.Leu208=)
2g.102451861C>GCA347947178IL18RAPc.1480C>G (p.Leu494Val)
c.1054C>G (p.Leu352Val)
c.622C>G (p.Leu208Val)
2g.102451861C>TCA427843784IL18RAPc.1480C>T (p.Leu494=)
c.1054C>T (p.Leu352=)
c.622C>T (p.Leu208=)
dbSNP gnomAD v4
2g.102451862T>ACA347947179IL18RAPc.1481T>A (p.Leu494Gln)
c.1055T>A (p.Leu352Gln)
c.623T>A (p.Leu208Gln)
2g.102451862T>CCA347947181IL18RAPc.1481T>C (p.Leu494Pro)
c.1055T>C (p.Leu352Pro)
c.623T>C (p.Leu208Pro)
2g.102451862T>GCA347947185IL18RAPc.1481T>G (p.Leu494Arg)
c.1055T>G (p.Leu352Arg)
c.623T>G (p.Leu208Arg)
2g.102451863A=CA1275266645IL18RAPc.1482A= (p.Leu494=)
c.1056A= (p.Leu352=)
c.624A= (p.Leu208=)
2g.102451863A>CCA427843785IL18RAPc.1482A>C (p.Leu494=)
c.1056A>C (p.Leu352=)
c.624A>C (p.Leu208=)
2g.102451863A>GCA427843786IL18RAPc.1482A>G (p.Leu494=)
c.1056A>G (p.Leu352=)
c.624A>G (p.Leu208=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451863A>TCA427843787IL18RAPc.1482A>T (p.Leu494=)
c.1056A>T (p.Leu352=)
c.624A>T (p.Leu208=)
2g.102451864C>ACA347947188IL18RAPc.1483C>A (p.Gln495Lys)
c.1057C>A (p.Gln353Lys)
c.625C>A (p.Gln209Lys)
2g.102451864C>GCA347947187IL18RAPc.1483C>G (p.Gln495Glu)
c.1057C>G (p.Gln353Glu)
c.625C>G (p.Gln209Glu)
2g.102451864C>TCA347947186IL18RAPc.1483C>T (p.Gln495Ter)
c.1057C>T (p.Gln353Ter)
c.625C>T (p.Gln209Ter)
gnomAD v4
2g.102451865A>CCA347947189IL18RAPc.1484A>C (p.Gln495Pro)
c.1058A>C (p.Gln353Pro)
c.626A>C (p.Gln209Pro)
2g.102451865A>GCA347947190IL18RAPc.1484A>G (p.Gln495Arg)
c.1058A>G (p.Gln353Arg)
c.626A>G (p.Gln209Arg)
2g.102451865A>TCA347947191IL18RAPc.1484A>T (p.Gln495Leu)
c.1058A>T (p.Gln353Leu)
c.626A>T (p.Gln209Leu)
2g.102451866A>CCA347947197IL18RAPc.1485A>C (p.Gln495His)
c.1059A>C (p.Gln353His)
c.627A>C (p.Gln209His)
2g.102451866A>GCA427843788IL18RAPc.1485A>G (p.Gln495=)
c.1059A>G (p.Gln353=)
c.627A>G (p.Gln209=)
2g.102451866A>TCA347947201IL18RAPc.1485A>T (p.Gln495His)
c.1059A>T (p.Gln353His)
c.627A>T (p.Gln209His)
2g.102451867G>ACA347947205IL18RAPc.1486G>A (p.Ala496Thr)
c.1060G>A (p.Ala354Thr)
c.628G>A (p.Ala210Thr)
gnomAD v4
2g.102451867G>CCA347947208IL18RAPc.1486G>C (p.Ala496Pro)
c.1060G>C (p.Ala354Pro)
c.628G>C (p.Ala210Pro)
2g.102451867G>TCA347947210IL18RAPc.1486G>T (p.Ala496Ser)
c.1060G>T (p.Ala354Ser)
c.628G>T (p.Ala210Ser)
2g.102451868C>ACA347947213IL18RAPc.1487C>A (p.Ala496Glu)
c.1061C>A (p.Ala354Glu)
c.629C>A (p.Ala210Glu)
gnomAD v4
2g.102451868C=CA1275266648IL18RAPc.1487C= (p.Ala496=)
c.1061C= (p.Ala354=)
c.629C= (p.Ala210=)
2g.102451868C>GCA1810647IL18RAPc.1487C>G (p.Ala496Gly)
c.1061C>G (p.Ala354Gly)
c.629C>G (p.Ala210Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451868C>TCA347947217IL18RAPc.1487C>T (p.Ala496Val)
c.1061C>T (p.Ala354Val)
c.629C>T (p.Ala210Val)
dbSNP gnomAD v2 gnomAD v4
2g.102451869A>CCA427843789IL18RAPc.1488A>C (p.Ala496=)
c.1062A>C (p.Ala354=)
c.630A>C (p.Ala210=)
2g.102451869A>GCA427843790IL18RAPc.1488A>G (p.Ala496=)
c.1062A>G (p.Ala354=)
c.630A>G (p.Ala210=)
gnomAD v4
2g.102451869A>TCA427843791IL18RAPc.1488A>T (p.Ala496=)
c.1062A>T (p.Ala354=)
c.630A>T (p.Ala210=)
2g.102451870G>ACA347947219IL18RAPc.1489G>A (p.Ala497Thr)
c.1063G>A (p.Ala355Thr)
c.631G>A (p.Ala211Thr)
2g.102451870G>CCA347947223IL18RAPc.1489G>C (p.Ala497Pro)
c.1063G>C (p.Ala355Pro)
c.631G>C (p.Ala211Pro)
2g.102451870G>TCA347947225IL18RAPc.1489G>T (p.Ala497Ser)
c.1063G>T (p.Ala355Ser)
c.631G>T (p.Ala211Ser)
2g.102451871C>ACA347947243IL18RAPc.1490C>A (p.Ala497Glu)
c.1064C>A (p.Ala355Glu)
c.632C>A (p.Ala211Glu)
2g.102451871C>GCA347947234IL18RAPc.1490C>G (p.Ala497Gly)
c.1064C>G (p.Ala355Gly)
c.632C>G (p.Ala211Gly)
2g.102451871C>TCA347947230IL18RAPc.1490C>T (p.Ala497Val)
c.1064C>T (p.Ala355Val)
c.632C>T (p.Ala211Val)
2g.102451872A>CCA427843792IL18RAPc.1491A>C (p.Ala497=)
c.1065A>C (p.Ala355=)
c.633A>C (p.Ala211=)
2g.102451872A>GCA427843794IL18RAPc.1491A>G (p.Ala497=)
c.1065A>G (p.Ala355=)
c.633A>G (p.Ala211=)
2g.102451872A>TCA427843793IL18RAPc.1491A>T (p.Ala497=)
c.1065A>T (p.Ala355=)
c.633A>T (p.Ala211=)
2g.102451873G>ACA347947247IL18RAPc.1492G>A (p.Val498Met)
c.1066G>A (p.Val356Met)
c.634G>A (p.Val212Met)
gnomAD v4
2g.102451873G>CCA347947251IL18RAPc.1492G>C (p.Val498Leu)
c.1066G>C (p.Val356Leu)
c.634G>C (p.Val212Leu)
2g.102451873G>TCA347947256IL18RAPc.1492G>T (p.Val498Leu)
c.1066G>T (p.Val356Leu)
c.634G>T (p.Val212Leu)
2g.102451874T>ACA347947259IL18RAPc.1493T>A (p.Val498Glu)
c.1067T>A (p.Val356Glu)
c.635T>A (p.Val212Glu)
2g.102451874T>CCA347947263IL18RAPc.1493T>C (p.Val498Ala)
c.1067T>C (p.Val356Ala)
c.635T>C (p.Val212Ala)
2g.102451874T>GCA347947268IL18RAPc.1493T>G (p.Val498Gly)
c.1067T>G (p.Val356Gly)
c.635T>G (p.Val212Gly)
2g.102451875G>ACA427843795IL18RAPc.1494G>A (p.Val498=)
c.1068G>A (p.Val356=)
c.636G>A (p.Val212=)
2g.102451875G>CCA427843796IL18RAPc.1494G>C (p.Val498=)
c.1068G>C (p.Val356=)
c.636G>C (p.Val212=)
2g.102451875G=CA1275266652IL18RAPc.1494G= (p.Val498=)
c.1068G= (p.Val356=)
c.636G= (p.Val212=)
2g.102451875G>TCA427843797IL18RAPc.1494G>T (p.Val498=)
c.1068G>T (p.Val356=)
c.636G>T (p.Val212=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451876A>CCA347947280IL18RAPc.1495A>C (p.Asn499His)
c.1069A>C (p.Asn357His)
c.637A>C (p.Asn213His)
2g.102451876A>GCA347947273IL18RAPc.1495A>G (p.Asn499Asp)
c.1069A>G (p.Asn357Asp)
c.637A>G (p.Asn213Asp)
2g.102451876A>TCA347947275IL18RAPc.1495A>T (p.Asn499Tyr)
c.1069A>T (p.Asn357Tyr)
c.637A>T (p.Asn213Tyr)
2g.102451877A>CCA347947285IL18RAPc.1496A>C (p.Asn499Thr)
c.1070A>C (p.Asn357Thr)
c.638A>C (p.Asn213Thr)
2g.102451877A>GCA347947287IL18RAPc.1496A>G (p.Asn499Ser)
c.1070A>G (p.Asn357Ser)
c.638A>G (p.Asn213Ser)
gnomAD v4
2g.102451877A>TCA347947292IL18RAPc.1496A>T (p.Asn499Ile)
c.1070A>T (p.Asn357Ile)
c.638A>T (p.Asn213Ile)
2g.102451878T>ACA347947296IL18RAPc.1497T>A (p.Asn499Lys)
c.1071T>A (p.Asn357Lys)
c.639T>A (p.Asn213Lys)
2g.102451878T>CCA427843798IL18RAPc.1497T>C (p.Asn499=)
c.1071T>C (p.Asn357=)
c.639T>C (p.Asn213=)
2g.102451878T>GCA347947299IL18RAPc.1497T>G (p.Asn499Lys)
c.1071T>G (p.Asn357Lys)
c.639T>G (p.Asn213Lys)
2g.102451879C>ACA347947302IL18RAPc.1498C>A (p.Leu500Ile)
c.1072C>A (p.Leu358Ile)
c.640C>A (p.Leu214Ile)
2g.102451879C=CA1275266654IL18RAPc.1498C= (p.Leu500=)
c.1072C= (p.Leu358=)
c.640C= (p.Leu214=)
2g.102451879C>GCA347947300IL18RAPc.1498C>G (p.Leu500Val)
c.1072C>G (p.Leu358Val)
c.640C>G (p.Leu214Val)
2g.102451879C>TCA347947301IL18RAPc.1498C>T (p.Leu500Phe)
c.1072C>T (p.Leu358Phe)
c.640C>T (p.Leu214Phe)
dbSNP
2g.102451880T>ACA347947306IL18RAPc.1499T>A (p.Leu500His)
c.1073T>A (p.Leu358His)
c.641T>A (p.Leu214His)
2g.102451880T>CCA347947307IL18RAPc.1499T>C (p.Leu500Pro)
c.1073T>C (p.Leu358Pro)
c.641T>C (p.Leu214Pro)
2g.102451880T>GCA347947313IL18RAPc.1499T>G (p.Leu500Arg)
c.1073T>G (p.Leu358Arg)
c.641T>G (p.Leu214Arg)
2g.102451881T>ACA427843800IL18RAPc.1500T>A (p.Leu500=)
c.1074T>A (p.Leu358=)
c.642T>A (p.Leu214=)
2g.102451881T>CCA427843799IL18RAPc.1500T>C (p.Leu500=)
c.1074T>C (p.Leu358=)
c.642T>C (p.Leu214=)
2g.102451881T>GCA1810648IL18RAPc.1500T>G (p.Leu500=)
c.1074T>G (p.Leu358=)
c.642T>G (p.Leu214=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451881T=CA1275266657IL18RAPc.1500T= (p.Leu500=)
c.1074T= (p.Leu358=)
c.642T= (p.Leu214=)
2g.102451882G>ACA347947318IL18RAPc.1501G>A (p.Ala501Thr)
c.1075G>A (p.Ala359Thr)
c.643G>A (p.Ala215Thr)
dbSNP gnomAD v3 gnomAD v4
2g.102451882G>CCA347947323IL18RAPc.1501G>C (p.Ala501Pro)
c.1075G>C (p.Ala359Pro)
c.643G>C (p.Ala215Pro)
2g.102451882G=CA1275266660IL18RAPc.1501G= (p.Ala501=)
c.1075G= (p.Ala359=)
c.643G= (p.Ala215=)
2g.102451882G>TCA347947327IL18RAPc.1501G>T (p.Ala501Ser)
c.1075G>T (p.Ala359Ser)
c.643G>T (p.Ala215Ser)
gnomAD v4
2g.102451883C>ACA347947335IL18RAPc.1502C>A (p.Ala501Asp)
c.1076C>A (p.Ala359Asp)
c.644C>A (p.Ala215Asp)
2g.102451883C=CA1275266664IL18RAPc.1502C= (p.Ala501=)
c.1076C= (p.Ala359=)
c.644C= (p.Ala215=)
2g.102451883C>GCA347947354IL18RAPc.1502C>G (p.Ala501Gly)
c.1076C>G (p.Ala359Gly)
c.644C>G (p.Ala215Gly)
2g.102451883C>TCA347947356IL18RAPc.1502C>T (p.Ala501Val)
c.1076C>T (p.Ala359Val)
c.644C>T (p.Ala215Val)
dbSNP gnomAD v2 COSMIC
2g.102451884C>ACA427843801IL18RAPc.1503C>A (p.Ala501=)
c.1077C>A (p.Ala359=)
c.645C>A (p.Ala215=)
2g.102451884C>GCA427843802IL18RAPc.1503C>G (p.Ala501=)
c.1077C>G (p.Ala359=)
c.645C>G (p.Ala215=)
2g.102451884C>TCA427843803IL18RAPc.1503C>T (p.Ala501=)
c.1077C>T (p.Ala359=)
c.645C>T (p.Ala215=)
2g.102451885T>ACA347947360IL18RAPc.1504T>A (p.Leu502Met)
c.1078T>A (p.Leu360Met)
c.646T>A (p.Leu216Met)
2g.102451885T>CCA427843804IL18RAPc.1504T>C (p.Leu502=)
c.1078T>C (p.Leu360=)
c.646T>C (p.Leu216=)
2g.102451885T>GCA347947377IL18RAPc.1504T>G (p.Leu502Val)
c.1078T>G (p.Leu360Val)
c.646T>G (p.Leu216Val)
2g.102451886T>ACA347947388IL18RAPc.1505T>A (p.Leu502Ter)
c.1079T>A (p.Leu360Ter)
c.647T>A (p.Leu216Ter)
2g.102451886T>CCA347947382IL18RAPc.1505T>C (p.Leu502Ser)
c.1079T>C (p.Leu360Ser)
c.647T>C (p.Leu216Ser)
2g.102451886T>GCA347947384IL18RAPc.1505T>G (p.Leu502Trp)
c.1079T>G (p.Leu360Trp)
c.647T>G (p.Leu216Trp)
2g.102451887G>ACA427843805IL18RAPc.1506G>A (p.Leu502=)
c.1080G>A (p.Leu360=)
c.648G>A (p.Leu216=)
gnomAD v4
2g.102451887G>CCA347947395IL18RAPc.1506G>C (p.Leu502Phe)
c.1080G>C (p.Leu360Phe)
c.648G>C (p.Leu216Phe)
2g.102451887G>TCA347947398IL18RAPc.1506G>T (p.Leu502Phe)
c.1080G>T (p.Leu360Phe)
c.648G>T (p.Leu216Phe)
2g.102451888G>ACA347947401IL18RAPc.1507G>A (p.Asp503Asn)
c.1081G>A (p.Asp361Asn)
c.649G>A (p.Asp217Asn)
2g.102451888G>CCA1810649IL18RAPc.1507G>C (p.Asp503His)
c.1081G>C (p.Asp361His)
c.649G>C (p.Asp217His)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451888G=CA1275266668IL18RAPc.1507G= (p.Asp503=)
c.1081G= (p.Asp361=)
c.649G= (p.Asp217=)
2g.102451888G>TCA347947409IL18RAPc.1507G>T (p.Asp503Tyr)
c.1081G>T (p.Asp361Tyr)
c.649G>T (p.Asp217Tyr)
2g.102451889A=CA1275266671IL18RAPc.1508A= (p.Asp503=)
c.1082A= (p.Asp361=)
c.650A= (p.Asp217=)
2g.102451889A>CCA347947414IL18RAPc.1508A>C (p.Asp503Ala)
c.1082A>C (p.Asp361Ala)
c.650A>C (p.Asp217Ala)
dbSNP
2g.102451889A>GCA347947421IL18RAPc.1508A>G (p.Asp503Gly)
c.1082A>G (p.Asp361Gly)
c.650A>G (p.Asp217Gly)
dbSNP gnomAD v3 gnomAD v4
2g.102451889A>TCA347947433IL18RAPc.1508A>T (p.Asp503Val)
c.1082A>T (p.Asp361Val)
c.650A>T (p.Asp217Val)
2g.102451890T>ACA347947436IL18RAPc.1509T>A (p.Asp503Glu)
c.1083T>A (p.Asp361Glu)
c.651T>A (p.Asp217Glu)
2g.102451890T>CCA427843806IL18RAPc.1509T>C (p.Asp503=)
c.1083T>C (p.Asp361=)
c.651T>C (p.Asp217=)
gnomAD v4
2g.102451890T>GCA347947442IL18RAPc.1509T>G (p.Asp503Glu)
c.1083T>G (p.Asp361Glu)
c.651T>G (p.Asp217Glu)
gnomAD v4
2g.102451891G>ACA347947446IL18RAPc.1510G>A (p.Asp504Asn)
c.1084G>A (p.Asp362Asn)
c.652G>A (p.Asp218Asn)
COSMIC
2g.102451891G>CCA347947452IL18RAPc.1510G>C (p.Asp504His)
c.1084G>C (p.Asp362His)
c.652G>C (p.Asp218His)
2g.102451891G>TCA347947457IL18RAPc.1510G>T (p.Asp504Tyr)
c.1084G>T (p.Asp362Tyr)
c.652G>T (p.Asp218Tyr)
2g.102451892A>CCA347947471IL18RAPc.1511A>C (p.Asp504Ala)
c.1085A>C (p.Asp362Ala)
c.653A>C (p.Asp218Ala)
2g.102451892A>GCA347947468IL18RAPc.1511A>G (p.Asp504Gly)
c.1085A>G (p.Asp362Gly)
c.653A>G (p.Asp218Gly)
2g.102451892A>TCA347947463IL18RAPc.1511A>T (p.Asp504Val)
c.1085A>T (p.Asp362Val)
c.653A>T (p.Asp218Val)
2g.102451893T>ACA52936138IL18RAPc.1512T>A (p.Asp504Glu)
c.1086T>A (p.Asp362Glu)
c.654T>A (p.Asp218Glu)
dbSNP
2g.102451893T>CCA52936134IL18RAPc.1512T>C (p.Asp504=)
c.1086T>C (p.Asp362=)
c.654T>C (p.Asp218=)
dbSNP gnomAD v4
2g.102451893T>GCA347947483IL18RAPc.1512T>G (p.Asp504Glu)
c.1086T>G (p.Asp362Glu)
c.654T>G (p.Asp218Glu)
2g.102451893T=CA1275266677IL18RAPc.1512T= (p.Asp504=)
c.1086T= (p.Asp362=)
c.654T= (p.Asp218=)
2g.102451894C>ACA347947485IL18RAPc.1513C>A (p.Gln505Lys)
c.1087C>A (p.Gln363Lys)
c.655C>A (p.Gln219Lys)
2g.102451894C=CA1275266679IL18RAPc.1513C= (p.Gln505=)
c.1087C= (p.Gln363=)
c.655C= (p.Gln219=)
2g.102451894C>GCA347947491IL18RAPc.1513C>G (p.Gln505Glu)
c.1087C>G (p.Gln363Glu)
c.655C>G (p.Gln219Glu)
dbSNP
2g.102451894C>TCA347947494IL18RAPc.1513C>T (p.Gln505Ter)
c.1087C>T (p.Gln363Ter)
c.655C>T (p.Gln219Ter)
COSMIC
2g.102451895A=CA1275266683IL18RAPc.1514A= (p.Gln505=)
c.1088A= (p.Gln363=)
c.656A= (p.Gln219=)
2g.102451895A>CCA347947504IL18RAPc.1514A>C (p.Gln505Pro)
c.1088A>C (p.Gln363Pro)
c.656A>C (p.Gln219Pro)
2g.102451895A>GCA347947506IL18RAPc.1514A>G (p.Gln505Arg)
c.1088A>G (p.Gln363Arg)
c.656A>G (p.Gln219Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451895A>TCA347947510IL18RAPc.1514A>T (p.Gln505Leu)
c.1088A>T (p.Gln363Leu)
c.656A>T (p.Gln219Leu)
2g.102451896A>CCA347947515IL18RAPc.1515A>C (p.Gln505His)
c.1089A>C (p.Gln363His)
c.657A>C (p.Gln219His)
2g.102451896A>GCA427843807IL18RAPc.1515A>G (p.Gln505=)
c.1089A>G (p.Gln363=)
c.657A>G (p.Gln219=)
2g.102451896A>TCA347947519IL18RAPc.1515A>T (p.Gln505His)
c.1089A>T (p.Gln363His)
c.657A>T (p.Gln219His)
2g.102451897A>CCA347947524IL18RAPc.1516A>C (p.Thr506Pro)
c.1090A>C (p.Thr364Pro)
c.658A>C (p.Thr220Pro)
2g.102451897A>GCA347947530IL18RAPc.1516A>G (p.Thr506Ala)
c.1090A>G (p.Thr364Ala)
c.658A>G (p.Thr220Ala)
2g.102451897A>TCA347947533IL18RAPc.1516A>T (p.Thr506Ser)
c.1090A>T (p.Thr364Ser)
c.658A>T (p.Thr220Ser)
2g.102451898C>ACA347947552IL18RAPc.1517C>A (p.Thr506Lys)
c.1091C>A (p.Thr364Lys)
c.659C>A (p.Thr220Lys)
2g.102451898C=CA1275266685IL18RAPc.1517C= (p.Thr506=)
c.1091C= (p.Thr364=)
c.659C= (p.Thr220=)
2g.102451898C>GCA347947548IL18RAPc.1517C>G (p.Thr506Arg)
c.1091C>G (p.Thr364Arg)
c.659C>G (p.Thr220Arg)
2g.102451898C>TCA1810650IL18RAPc.1517C>T (p.Thr506Ile)
c.1091C>T (p.Thr364Ile)
c.659C>T (p.Thr220Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451899A>CCA427843809IL18RAPc.1518A>C (p.Thr506=)
c.1092A>C (p.Thr364=)
c.660A>C (p.Thr220=)
2g.102451899A>GCA427843810IL18RAPc.1518A>G (p.Thr506=)
c.1092A>G (p.Thr364=)
c.660A>G (p.Thr220=)
COSMIC
2g.102451899A>TCA427843811IL18RAPc.1518A>T (p.Thr506=)
c.1092A>T (p.Thr364=)
c.660A>T (p.Thr220=)
2g.102451900C>ACA347947557IL18RAPc.1519C>A (p.Leu507Met)
c.1093C>A (p.Leu365Met)
c.661C>A (p.Leu221Met)
2g.102451900C=CA1275266689IL18RAPc.1519C= (p.Leu507=)
c.1093C= (p.Leu365=)
c.661C= (p.Leu221=)
2g.102451900C>GCA347947563IL18RAPc.1519C>G (p.Leu507Val)
c.1093C>G (p.Leu365Val)
c.661C>G (p.Leu221Val)
2g.102451900C>TCA52936144IL18RAPc.1519C>T (p.Leu507=)
c.1093C>T (p.Leu365=)
c.661C>T (p.Leu221=)
dbSNP gnomAD v4
2g.102451901T>ACA347947564IL18RAPc.1520T>A (p.Leu507Gln)
c.1094T>A (p.Leu365Gln)
c.662T>A (p.Leu221Gln)
2g.102451901T>CCA347947567IL18RAPc.1520T>C (p.Leu507Pro)
c.1094T>C (p.Leu365Pro)
c.662T>C (p.Leu221Pro)
2g.102451901T>GCA347947569IL18RAPc.1520T>G (p.Leu507Arg)
c.1094T>G (p.Leu365Arg)
c.662T>G (p.Leu221Arg)
2g.102451902G>ACA427843812IL18RAPc.1521G>A (p.Leu507=)
c.1095G>A (p.Leu365=)
c.663G>A (p.Leu221=)
gnomAD v4
2g.102451902G>CCA427843814IL18RAPc.1521G>C (p.Leu507=)
c.1095G>C (p.Leu365=)
c.663G>C (p.Leu221=)
2g.102451902G>TCA427843813IL18RAPc.1521G>T (p.Leu507=)
c.1095G>T (p.Leu365=)
c.663G>T (p.Leu221=)
2g.102451903A>CCA347947573IL18RAPc.1522A>C (p.Lys508Gln)
c.1096A>C (p.Lys366Gln)
c.664A>C (p.Lys222Gln)
2g.102451903A>GCA347947575IL18RAPc.1522A>G (p.Lys508Glu)
c.1096A>G (p.Lys366Glu)
c.664A>G (p.Lys222Glu)
2g.102451903A>TCA347947577IL18RAPc.1522A>T (p.Lys508Ter)
c.1096A>T (p.Lys366Ter)
c.664A>T (p.Lys222Ter)
2g.102451904A>CCA347947580IL18RAPc.1523A>C (p.Lys508Thr)
c.1097A>C (p.Lys366Thr)
c.665A>C (p.Lys222Thr)
2g.102451904A>GCA347947582IL18RAPc.1523A>G (p.Lys508Arg)
c.1097A>G (p.Lys366Arg)
c.665A>G (p.Lys222Arg)
2g.102451904A>TCA347947585IL18RAPc.1523A>T (p.Lys508Ile)
c.1097A>T (p.Lys366Ile)
c.665A>T (p.Lys222Ile)
2g.102451905A=CA1275266692IL18RAPc.1524A= (p.Lys508=)
c.1098A= (p.Lys366=)
c.666A= (p.Lys222=)
2g.102451905A>CCA52936145IL18RAPc.1524A>C (p.Lys508Asn)
c.1098A>C (p.Lys366Asn)
c.666A>C (p.Lys222Asn)
dbSNP gnomAD v2
2g.102451905A>GCA427843818IL18RAPc.1524A>G (p.Lys508=)
c.1098A>G (p.Lys366=)
c.666A>G (p.Lys222=)
2g.102451905A>TCA347947587IL18RAPc.1524A>T (p.Lys508Asn)
c.1098A>T (p.Lys366Asn)
c.666A>T (p.Lys222Asn)
2g.102451906C>ACA347947595IL18RAPc.1525C>A (p.Leu509Ile)
c.1099C>A (p.Leu367Ile)
c.667C>A (p.Leu223Ile)
2g.102451906C>GCA347947590IL18RAPc.1525C>G (p.Leu509Val)
c.1099C>G (p.Leu367Val)
c.667C>G (p.Leu223Val)
gnomAD v4
2g.102451906C>TCA347947593IL18RAPc.1525C>T (p.Leu509Phe)
c.1099C>T (p.Leu367Phe)
c.667C>T (p.Leu223Phe)
gnomAD v4
2g.102451907T>ACA347947597IL18RAPc.1526T>A (p.Leu509His)
c.1100T>A (p.Leu367His)
c.668T>A (p.Leu223His)
gnomAD v4
2g.102451907T>CCA347947599IL18RAPc.1526T>C (p.Leu509Pro)
c.1100T>C (p.Leu367Pro)
c.668T>C (p.Leu223Pro)
2g.102451907T>GCA347947600IL18RAPc.1526T>G (p.Leu509Arg)
c.1100T>G (p.Leu367Arg)
c.668T>G (p.Leu223Arg)
2g.102451908C>ACA427843820IL18RAPc.1527C>A (p.Leu509=)
c.1101C>A (p.Leu367=)
c.669C>A (p.Leu223=)
gnomAD v4
2g.102451908C=CA1275266695IL18RAPc.1527C= (p.Leu509=)
c.1101C= (p.Leu367=)
c.669C= (p.Leu223=)
2g.102451908C>GCA427843821IL18RAPc.1527C>G (p.Leu509=)
c.1101C>G (p.Leu367=)
c.669C>G (p.Leu223=)
2g.102451908C>TCA427843822IL18RAPc.1527C>T (p.Leu509=)
c.1101C>T (p.Leu367=)
c.669C>T (p.Leu223=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.102451909A=CA1275266699IL18RAPc.1528A= (p.Ile510=)
c.1102A= (p.Ile368=)
c.670A= (p.Ile224=)
2g.102451909A>CCA347947604IL18RAPc.1528A>C (p.Ile510Leu)
c.1102A>C (p.Ile368Leu)
c.670A>C (p.Ile224Leu)
2g.102451909A>GCA347947606IL18RAPc.1528A>G (p.Ile510Val)
c.1102A>G (p.Ile368Val)
c.670A>G (p.Ile224Val)
dbSNP gnomAD v2 gnomAD v4
2g.102451909A>TCA347947608IL18RAPc.1528A>T (p.Ile510Phe)
c.1102A>T (p.Ile368Phe)
c.670A>T (p.Ile224Phe)
2g.102451910T>ACA347947610IL18RAPc.1529T>A (p.Ile510Asn)
c.1103T>A (p.Ile368Asn)
c.671T>A (p.Ile224Asn)
2g.102451910T>CCA52936146IL18RAPc.1529T>C (p.Ile510Thr)
c.1103T>C (p.Ile368Thr)
c.671T>C (p.Ile224Thr)
dbSNP gnomAD v2 gnomAD v4
2g.102451910T>GCA347947614IL18RAPc.1529T>G (p.Ile510Ser)
c.1103T>G (p.Ile368Ser)
c.671T>G (p.Ile224Ser)
2g.102451910T=CA1275266700IL18RAPc.1529T= (p.Ile510=)
c.1103T= (p.Ile368=)
c.671T= (p.Ile224=)
2g.102451911T>ACA427843824IL18RAPc.1530T>A (p.Ile510=)
c.1104T>A (p.Ile368=)
c.672T>A (p.Ile224=)
2g.102451911T>CCA427843826IL18RAPc.1530T>C (p.Ile510=)
c.1104T>C (p.Ile368=)
c.672T>C (p.Ile224=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451911T>GCA347947617IL18RAPc.1530T>G (p.Ile510Met)
c.1104T>G (p.Ile368Met)
c.672T>G (p.Ile224Met)
2g.102451911T=CA1275266703IL18RAPc.1530T= (p.Ile510=)
c.1104T= (p.Ile368=)
c.672T= (p.Ile224=)
2g.102451912T>ACA347947620IL18RAPc.1531T>A (p.Leu511Ile)
c.1105T>A (p.Leu369Ile)
c.673T>A (p.Leu225Ile)
2g.102451912T>CCA427843828IL18RAPc.1531T>C (p.Leu511=)
c.1105T>C (p.Leu369=)
c.673T>C (p.Leu225=)
2g.102451912T>GCA347947622IL18RAPc.1531T>G (p.Leu511Val)
c.1105T>G (p.Leu369Val)
c.673T>G (p.Leu225Val)
2g.102451913T>ACA347947627IL18RAPc.1532T>A (p.Leu511Ter)
c.1106T>A (p.Leu369Ter)
c.674T>A (p.Leu225Ter)
2g.102451913T>CCA347947631IL18RAPc.1532T>C (p.Leu511Ser)
c.1106T>C (p.Leu369Ser)
c.674T>C (p.Leu225Ser)
2g.102451913T>GCA347947629IL18RAPc.1532T>G (p.Leu511Ter)
c.1106T>G (p.Leu369Ter)
c.674T>G (p.Leu225Ter)
2g.102451914A>CCA347947634IL18RAPc.1533A>C (p.Leu511Phe)
c.1107A>C (p.Leu369Phe)
c.675A>C (p.Leu225Phe)
2g.102451914A>GCA427843829IL18RAPc.1533A>G (p.Leu511=)
c.1107A>G (p.Leu369=)
c.675A>G (p.Leu225=)
gnomAD v4
2g.102451914A>TCA347947636IL18RAPc.1533A>T (p.Leu511Phe)
c.1107A>T (p.Leu369Phe)
c.675A>T (p.Leu225Phe)
2g.102451915A>CCA347947640IL18RAPc.1534A>C (p.Ile512Leu)
c.1108A>C (p.Ile370Leu)
c.676A>C (p.Ile226Leu)
2g.102451915A>GCA347947642IL18RAPc.1534A>G (p.Ile512Val)
c.1108A>G (p.Ile370Val)
c.676A>G (p.Ile226Val)
2g.102451915A>TCA347947644IL18RAPc.1534A>T (p.Ile512Phe)
c.1108A>T (p.Ile370Phe)
c.676A>T (p.Ile226Phe)
2g.102451916T>ACA347947646IL18RAPc.1535T>A (p.Ile512Asn)
c.1109T>A (p.Ile370Asn)
c.677T>A (p.Ile226Asn)
2g.102451916T>CCA347947647IL18RAPc.1535T>C (p.Ile512Thr)
c.1109T>C (p.Ile370Thr)
c.677T>C (p.Ile226Thr)
2g.102451916T>GCA347947648IL18RAPc.1535T>G (p.Ile512Ser)
c.1109T>G (p.Ile370Ser)
c.677T>G (p.Ile226Ser)
2g.102451917T>ACA427843831IL18RAPc.1536T>A (p.Ile512=)
c.1110T>A (p.Ile370=)
c.678T>A (p.Ile226=)
2g.102451917T>CCA427843832IL18RAPc.1536T>C (p.Ile512=)
c.1110T>C (p.Ile370=)
c.678T>C (p.Ile226=)
2g.102451917T>GCA347947650IL18RAPc.1536T>G (p.Ile512Met)
c.1110T>G (p.Ile370Met)
c.678T>G (p.Ile226Met)
2g.102451918A=CA1275266705IL18RAPc.1537A= (p.Lys513=)
c.1111A= (p.Lys371=)
c.679A= (p.Lys227=)
2g.102451918A>CCA347947653IL18RAPc.1537A>C (p.Lys513Gln)
c.1111A>C (p.Lys371Gln)
c.679A>C (p.Lys227Gln)
2g.102451918A>GCA347947656IL18RAPc.1537A>G (p.Lys513Glu)
c.1111A>G (p.Lys371Glu)
c.679A>G (p.Lys227Glu)
2g.102451918A>TCA347947659IL18RAPc.1537A>T (p.Lys513Ter)
c.1111A>T (p.Lys371Ter)
c.679A>T (p.Lys227Ter)
dbSNP gnomAD v4
2g.102451919A=CA1275266709IL18RAPc.1538A= (p.Lys513=)
c.1112A= (p.Lys371=)
c.680A= (p.Lys227=)
2g.102451919A>CCA347947661IL18RAPc.1538A>C (p.Lys513Thr)
c.1112A>C (p.Lys371Thr)
c.680A>C (p.Lys227Thr)
2g.102451919A>GCA1810651IL18RAPc.1538A>G (p.Lys513Arg)
c.1112A>G (p.Lys371Arg)
c.680A>G (p.Lys227Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451919A>TCA347947667IL18RAPc.1538A>T (p.Lys513Met)
c.1112A>T (p.Lys371Met)
c.680A>T (p.Lys227Met)
2g.102451920G>ACA52936149IL18RAPc.1539G>A (p.Lys513=)
c.1113G>A (p.Lys371=)
c.681G>A (p.Lys227=)
dbSNP gnomAD v2 gnomAD v4
2g.102451920G>CCA347947672IL18RAPc.1539G>C (p.Lys513Asn)
c.1113G>C (p.Lys371Asn)
c.681G>C (p.Lys227Asn)
gnomAD v4
2g.102451920G=CA1275266711IL18RAPc.1539G= (p.Lys513=)
c.1113G= (p.Lys371=)
c.681G= (p.Lys227=)
2g.102451920G>TCA52936152IL18RAPc.1539G>T (p.Lys513Asn)
c.1113G>T (p.Lys371Asn)
c.681G>T (p.Lys227Asn)
dbSNP gnomAD v4 COSMIC
2g.102451921T>ACA347947676IL18RAPc.1540T>A (p.Phe514Ile)
c.1114T>A (p.Phe372Ile)
c.682T>A (p.Phe228Ile)
2g.102451921T>CCA347947679IL18RAPc.1540T>C (p.Phe514Leu)
c.1114T>C (p.Phe372Leu)
c.682T>C (p.Phe228Leu)
2g.102451921T>GCA347947682IL18RAPc.1540T>G (p.Phe514Val)
c.1114T>G (p.Phe372Val)
c.682T>G (p.Phe228Val)
2g.102451922T>ACA1810652IL18RAPc.1541T>A (p.Phe514Tyr)
c.1115T>A (p.Phe372Tyr)
c.683T>A (p.Phe228Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451922T>CCA347947687IL18RAPc.1541T>C (p.Phe514Ser)
c.1115T>C (p.Phe372Ser)
c.683T>C (p.Phe228Ser)
2g.102451922T>GCA347947691IL18RAPc.1541T>G (p.Phe514Cys)
c.1115T>G (p.Phe372Cys)
c.683T>G (p.Phe228Cys)
2g.102451922T=CA1275266715IL18RAPc.1541T= (p.Phe514=)
c.1115T= (p.Phe372=)
c.683T= (p.Phe228=)
2g.102451923C>ACA347947694IL18RAPc.1542C>A (p.Phe514Leu)
c.1116C>A (p.Phe372Leu)
c.684C>A (p.Phe228Leu)
COSMIC
2g.102451923C>GCA347947696IL18RAPc.1542C>G (p.Phe514Leu)
c.1116C>G (p.Phe372Leu)
c.684C>G (p.Phe228Leu)
2g.102451923C>TCA427843835IL18RAPc.1542C>T (p.Phe514=)
c.1116C>T (p.Phe372=)
c.684C>T (p.Phe228=)
2g.102451924T>ACA347947699IL18RAPc.1543T>A (p.Cys515Ser)
c.1117T>A (p.Cys373Ser)
c.685T>A (p.Cys229Ser)
2g.102451924T>CCA347947700IL18RAPc.1543T>C (p.Cys515Arg)
c.1117T>C (p.Cys373Arg)
c.685T>C (p.Cys229Arg)
2g.102451924T>GCA347947702IL18RAPc.1543T>G (p.Cys515Gly)
c.1117T>G (p.Cys373Gly)
c.685T>G (p.Cys229Gly)
2g.102451925G>ACA347947710IL18RAPc.1544G>A (p.Cys515Tyr)
c.1118G>A (p.Cys373Tyr)
c.686G>A (p.Cys229Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451925G>CCA347947707IL18RAPc.1544G>C (p.Cys515Ser)
c.1118G>C (p.Cys373Ser)
c.686G>C (p.Cys229Ser)
2g.102451925G=CA1275266718IL18RAPc.1544G= (p.Cys515=)
c.1118G= (p.Cys373=)
c.686G= (p.Cys229=)
2g.102451925G>TCA347947705IL18RAPc.1544G>T (p.Cys515Phe)
c.1118G>T (p.Cys373Phe)
c.686G>T (p.Cys229Phe)
2g.102451926T>ACA347947717IL18RAPc.1545T>A (p.Cys515Ter)
c.1119T>A (p.Cys373Ter)
c.687T>A (p.Cys229Ter)
2g.102451926T>CCA427843838IL18RAPc.1545T>C (p.Cys515=)
c.1119T>C (p.Cys373=)
c.687T>C (p.Cys229=)
2g.102451926T>GCA347947714IL18RAPc.1545T>G (p.Cys515Trp)
c.1119T>G (p.Cys373Trp)
c.687T>G (p.Cys229Trp)
2g.102451927T>ACA347947722IL18RAPc.1546T>A (p.Tyr516Asn)
c.1120T>A (p.Tyr374Asn)
c.688T>A (p.Tyr230Asn)
gnomAD v4
2g.102451927T>CCA347947724IL18RAPc.1546T>C (p.Tyr516His)
c.1120T>C (p.Tyr374His)
c.688T>C (p.Tyr230His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.102451927T>GCA347947726IL18RAPc.1546T>G (p.Tyr516Asp)
c.1120T>G (p.Tyr374Asp)
c.688T>G (p.Tyr230Asp)
2g.102451927T=CA1275266723IL18RAPc.1546T= (p.Tyr516=)
c.1120T= (p.Tyr374=)
c.688T= (p.Tyr230=)
2g.102451928A>CCA347947730IL18RAPc.1547A>C (p.Tyr516Ser)
c.1121A>C (p.Tyr374Ser)
c.689A>C (p.Tyr230Ser)
2g.102451928A>GCA347947731IL18RAPc.1547A>G (p.Tyr516Cys)
c.1121A>G (p.Tyr374Cys)
c.689A>G (p.Tyr230Cys)
2g.102451928A>TCA347947734IL18RAPc.1547A>T (p.Tyr516Phe)
c.1121A>T (p.Tyr374Phe)
c.689A>T (p.Tyr230Phe)
2g.102451929C>ACA347947736IL18RAPc.1548C>A (p.Tyr516Ter)
c.1122C>A (p.Tyr374Ter)
c.690C>A (p.Tyr230Ter)
2g.102451929C>GCA347947739IL18RAPc.1548C>G (p.Tyr516Ter)
c.1122C>G (p.Tyr374Ter)
c.690C>G (p.Tyr230Ter)
2g.102451929C>TCA427843840IL18RAPc.1548C>T (p.Tyr516=)
c.1122C>T (p.Tyr374=)
c.690C>T (p.Tyr230=)
gnomAD v4
2g.102451930T>ACA347947744IL18RAPc.1549T>A (p.Phe517Ile)
c.1123T>A (p.Phe375Ile)
c.691T>A (p.Phe231Ile)
2g.102451930T>CCA347947745IL18RAPc.1549T>C (p.Phe517Leu)
c.1123T>C (p.Phe375Leu)
c.691T>C (p.Phe231Leu)
2g.102451930T>GCA347947748IL18RAPc.1549T>G (p.Phe517Val)
c.1123T>G (p.Phe375Val)
c.691T>G (p.Phe231Val)
2g.102451931T>ACA347947756IL18RAPc.1550T>A (p.Phe517Tyr)
c.1124T>A (p.Phe375Tyr)
c.692T>A (p.Phe231Tyr)
2g.102451931T>CCA347947754IL18RAPc.1550T>C (p.Phe517Ser)
c.1124T>C (p.Phe375Ser)
c.692T>C (p.Phe231Ser)
2g.102451931T>GCA347947751IL18RAPc.1550T>G (p.Phe517Cys)
c.1124T>G (p.Phe375Cys)
c.692T>G (p.Phe231Cys)
2g.102451932C>ACA347947759IL18RAPc.1551C>A (p.Phe517Leu)
c.1125C>A (p.Phe375Leu)
c.693C>A (p.Phe231Leu)
2g.102451932C>GCA347947760IL18RAPc.1551C>G (p.Phe517Leu)
c.1125C>G (p.Phe375Leu)
c.693C>G (p.Phe231Leu)
2g.102451932C>TCA427843843IL18RAPc.1551C>T (p.Phe517=)
c.1125C>T (p.Phe375=)
c.693C>T (p.Phe231=)
COSMIC
2g.102451933C>ACA347947762IL18RAPc.1552C>A (p.Gln518Lys)
c.1126C>A (p.Gln376Lys)
c.694C>A (p.Gln232Lys)
2g.102451933C>GCA347947765IL18RAPc.1552C>G (p.Gln518Glu)
c.1126C>G (p.Gln376Glu)
c.694C>G (p.Gln232Glu)
2g.102451933C>TCA347947766IL18RAPc.1552C>T (p.Gln518Ter)
c.1126C>T (p.Gln376Ter)
c.694C>T (p.Gln232Ter)
2g.102451933_102451942delCA2577058075IL18RAPc.1552_1561del (p.Gln518SerfsTer7)
c.1126_1135del (p.Gln376SerfsTer7)
c.694_703del (p.Gln232SerfsTer7)
gnomAD v4
2g.102451934A>CCA347947769IL18RAPc.1553A>C (p.Gln518Pro)
c.1127A>C (p.Gln376Pro)
c.695A>C (p.Gln232Pro)
2g.102451934A>GCA347947771IL18RAPc.1553A>G (p.Gln518Arg)
c.1127A>G (p.Gln376Arg)
c.695A>G (p.Gln232Arg)
2g.102451934A>TCA347947774IL18RAPc.1553A>T (p.Gln518Leu)
c.1127A>T (p.Gln376Leu)
c.695A>T (p.Gln232Leu)
2g.102451935A=CA1275266726IL18RAPc.1554A= (p.Gln518=)
c.1128A= (p.Gln376=)
c.696A= (p.Gln232=)
2g.102451935A>CCA347947776IL18RAPc.1554A>C (p.Gln518His)
c.1128A>C (p.Gln376His)
c.696A>C (p.Gln232His)
2g.102451935A>GCA427843844IL18RAPc.1554A>G (p.Gln518=)
c.1128A>G (p.Gln376=)
c.696A>G (p.Gln232=)
dbSNP gnomAD v4
2g.102451935A>TCA347947779IL18RAPc.1554A>T (p.Gln518His)
c.1128A>T (p.Gln376His)
c.696A>T (p.Gln232His)
2g.102451936G>ACA347947782IL18RAPc.1555G>A (p.Glu519Lys)
c.1129G>A (p.Glu377Lys)
c.697G>A (p.Glu233Lys)
dbSNP
2g.102451936G>CCA347947784IL18RAPc.1555G>C (p.Glu519Gln)
c.1129G>C (p.Glu377Gln)
c.697G>C (p.Glu233Gln)
2g.102451936G=CA1275266730IL18RAPc.1555G= (p.Glu519=)
c.1129G= (p.Glu377=)
c.697G= (p.Glu233=)
2g.102451936G>TCA347947787IL18RAPc.1555G>T (p.Glu519Ter)
c.1129G>T (p.Glu377Ter)
c.697G>T (p.Glu233Ter)
2g.102451936_102451937delinsGACA1275266729IL18RAPc.1555_1556delinsGA (p.Glu519=)
c.1129_1130delinsGA (p.Glu377=)
c.697_698delinsGA (p.Glu233=)
2g.102451937delCA535106270IL18RAPc.1556del (p.Glu519GlyfsTer9)
c.1130del (p.Glu377GlyfsTer9)
c.698del (p.Glu233GlyfsTer9)
dbSNP gnomAD v2 gnomAD v4
2g.102451937A>CCA347947791IL18RAPc.1556A>C (p.Glu519Ala)
c.1130A>C (p.Glu377Ala)
c.698A>C (p.Glu233Ala)
2g.102451937A>GCA347947794IL18RAPc.1556A>G (p.Glu519Gly)
c.1130A>G (p.Glu377Gly)
c.698A>G (p.Glu233Gly)
2g.102451937A>TCA347947790IL18RAPc.1556A>T (p.Glu519Val)
c.1130A>T (p.Glu377Val)
c.698A>T (p.Glu233Val)
2g.102451938G>ACA427843848IL18RAPc.1557G>A (p.Glu519=)
c.1131G>A (p.Glu377=)
c.699G>A (p.Glu233=)
2g.102451938G>CCA347947796IL18RAPc.1557G>C (p.Glu519Asp)
c.1131G>C (p.Glu377Asp)
c.699G>C (p.Glu233Asp)
2g.102451938G>TCA347947797IL18RAPc.1557G>T (p.Glu519Asp)
c.1131G>T (p.Glu377Asp)
c.699G>T (p.Glu233Asp)
gnomAD v4
2g.102451939C>ACA347947801IL18RAPc.1558C>A (p.Pro520Thr)
c.1132C>A (p.Pro378Thr)
c.700C>A (p.Pro234Thr)
gnomAD v4
2g.102451939C=CA1275266733IL18RAPc.1558C= (p.Pro520=)
c.1132C= (p.Pro378=)
c.700C= (p.Pro234=)
2g.102451939C>GCA1810653IL18RAPc.1558C>G (p.Pro520Ala)
c.1132C>G (p.Pro378Ala)
c.700C>G (p.Pro234Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.102451939C>TCA347947805IL18RAPc.1558C>T (p.Pro520Ser)
c.1132C>T (p.Pro378Ser)
c.700C>T (p.Pro234Ser)
2g.102451940C>ACA347947809IL18RAPc.1559C>A (p.Pro520Gln)
c.1133C>A (p.Pro378Gln)
c.701C>A (p.Pro234Gln)
gnomAD v4
2g.102451940C=CA1275266737IL18RAPc.1559C= (p.Pro520=)
c.1133C= (p.Pro378=)
c.701C= (p.Pro234=)
2g.102451940C>GCA347947810IL18RAPc.1559C>G (p.Pro520Arg)
c.1133C>G (p.Pro378Arg)
c.701C>G (p.Pro234Arg)
2g.102451940C>TCA347947812IL18RAPc.1559C>T (p.Pro520Leu)
c.1133C>T (p.Pro378Leu)
c.701C>T (p.Pro234Leu)
dbSNP gnomAD v3 gnomAD v4
2g.102451941A>CCA427843849IL18RAPc.1560A>C (p.Pro520=)
c.1134A>C (p.Pro378=)
c.702A>C (p.Pro234=)
2g.102451941A>GCA427843851IL18RAPc.1560A>G (p.Pro520=)
c.1134A>G (p.Pro378=)
c.702A>G (p.Pro234=)
COSMIC
2g.102451941A>TCA427843850IL18RAPc.1560A>T (p.Pro520=)
c.1134A>T (p.Pro378=)
c.702A>T (p.Pro234=)
2g.102451943_102451944dupCA52936164IL18RAPc.1562_1563dup (p.Pro524TyrfsTer5)
c.1136_1137dup (p.Pro382TyrfsTer5)
c.704_705dup (p.Pro238TyrfsTer5)
dbSNP gnomAD v2 gnomAD v4
2g.102451942G>ACA347947818IL18RAPc.1561G>A (p.Glu521Lys)
c.1135G>A (p.Glu379Lys)
c.703G>A (p.Glu235Lys)
gnomAD v4
2g.102451942G>CCA347947822IL18RAPc.1561G>C (p.Glu521Gln)
c.1135G>C (p.Glu379Gln)
c.703G>C (p.Glu235Gln)
2g.102451942G>TCA347947824IL18RAPc.1561G>T (p.Glu521Ter)
c.1135G>T (p.Glu379Ter)
c.703G>T (p.Glu235Ter)
2g.102451943A=CA1275266742IL18RAPc.1562A= (p.Glu521=)
c.1136A= (p.Glu379=)
c.704A= (p.Glu235=)
2g.102451943A>CCA52936177IL18RAPc.1562A>C (p.Glu521Ala)
c.1136A>C (p.Glu379Ala)
c.704A>C (p.Glu235Ala)
dbSNP
2g.102451943A>GCA347947827IL18RAPc.1562A>G (p.Glu521Gly)
c.1136A>G (p.Glu379Gly)
c.704A>G (p.Glu235Gly)
dbSNP gnomAD v4
2g.102451943A>TCA347947830IL18RAPc.1562A>T (p.Glu521Val)
c.1136A>T (p.Glu379Val)
c.704A>T (p.Glu235Val)
2g.102451944G>ACA1810654IL18RAPc.1563G>A (p.Glu521=)
c.1137G>A (p.Glu379=)
c.705G>A (p.Glu235=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451944G>CCA347947836IL18RAPc.1563G>C (p.Glu521Asp)
c.1137G>C (p.Glu379Asp)
c.705G>C (p.Glu235Asp)
2g.102451944G=CA1275266744IL18RAPc.1563G= (p.Glu521=)
c.1137G= (p.Glu379=)
c.705G= (p.Glu235=)
2g.102451944G>TCA347947833IL18RAPc.1563G>T (p.Glu521Asp)
c.1137G>T (p.Glu379Asp)
c.705G>T (p.Glu235Asp)
dbSNP gnomAD v4
2g.102451945T>ACA347947840IL18RAPc.1564T>A (p.Ser522Thr)
c.1138T>A (p.Ser380Thr)
c.706T>A (p.Ser236Thr)
gnomAD v4
2g.102451945T>CCA347947842IL18RAPc.1564T>C (p.Ser522Pro)
c.1138T>C (p.Ser380Pro)
c.706T>C (p.Ser236Pro)
2g.102451945T>GCA1810655IL18RAPc.1564T>G (p.Ser522Ala)
c.1138T>G (p.Ser380Ala)
c.706T>G (p.Ser236Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.102451945T=CA1275266748IL18RAPc.1564T= (p.Ser522=)
c.1138T= (p.Ser380=)
c.706T= (p.Ser236=)
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

Number of alleles fetched