Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.102451835A= | CA1275266617 | IL18RAP | c.1454A= (p.Tyr485=) c.1028A= (p.Tyr343=) c.596A= (p.Tyr199=) | |
2 | g.102451835A>C | CA347946928 | IL18RAP | c.1454A>C (p.Tyr485Ser) c.1028A>C (p.Tyr343Ser) c.596A>C (p.Tyr199Ser) | |
2 | g.102451835A>G | CA347946921 | IL18RAP | c.1454A>G (p.Tyr485Cys) c.1028A>G (p.Tyr343Cys) c.596A>G (p.Tyr199Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451835A>T | CA347946927 | IL18RAP | c.1454A>T (p.Tyr485Phe) c.1028A>T (p.Tyr343Phe) c.596A>T (p.Tyr199Phe) | |
2 | g.102451836T>A | CA347946929 | IL18RAP | c.1455T>A (p.Tyr485Ter) c.1029T>A (p.Tyr343Ter) c.597T>A (p.Tyr199Ter) | |
2 | g.102451836T>C | CA427843761 | IL18RAP | c.1455T>C (p.Tyr485=) c.1029T>C (p.Tyr343=) c.597T>C (p.Tyr199=) | dbSNP gnomAD v4 |
2 | g.102451836T>G | CA347946930 | IL18RAP | c.1455T>G (p.Tyr485Ter) c.1029T>G (p.Tyr343Ter) c.597T>G (p.Tyr199Ter) | gnomAD v4 |
2 | g.102451836T= | CA1275266618 | IL18RAP | c.1455T= (p.Tyr485=) c.1029T= (p.Tyr343=) c.597T= (p.Tyr199=) | |
2 | g.102451837G>A | CA1810643 | IL18RAP | c.1456G>A (p.Val486Ile) c.1030G>A (p.Val344Ile) c.598G>A (p.Val200Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451837G>C | CA347946940 | IL18RAP | c.1456G>C (p.Val486Leu) c.1030G>C (p.Val344Leu) c.598G>C (p.Val200Leu) | |
2 | g.102451837G= | CA1275266619 | IL18RAP | c.1456G= (p.Val486=) c.1030G= (p.Val344=) c.598G= (p.Val200=) | |
2 | g.102451837G>T | CA347946944 | IL18RAP | c.1456G>T (p.Val486Phe) c.1030G>T (p.Val344Phe) c.598G>T (p.Val200Phe) | |
2 | g.102451838T>A | CA347946950 | IL18RAP | c.1457T>A (p.Val486Asp) c.1031T>A (p.Val344Asp) c.599T>A (p.Val200Asp) | |
2 | g.102451838T>C | CA347946955 | IL18RAP | c.1457T>C (p.Val486Ala) c.1031T>C (p.Val344Ala) c.599T>C (p.Val200Ala) | |
2 | g.102451838T>G | CA347946952 | IL18RAP | c.1457T>G (p.Val486Gly) c.1031T>G (p.Val344Gly) c.599T>G (p.Val200Gly) | |
2 | g.102451839C>A | CA427843764 | IL18RAP | c.1458C>A (p.Val486=) c.1032C>A (p.Val344=) c.600C>A (p.Val200=) | |
2 | g.102451839C>G | CA427843762 | IL18RAP | c.1458C>G (p.Val486=) c.1032C>G (p.Val344=) c.600C>G (p.Val200=) | |
2 | g.102451839C>T | CA427843763 | IL18RAP | c.1458C>T (p.Val486=) c.1032C>T (p.Val344=) c.600C>T (p.Val200=) | |
2 | g.102451840A>C | CA347946962 | IL18RAP | c.1459A>C (p.Asn487His) c.1033A>C (p.Asn345His) c.601A>C (p.Asn201His) | |
2 | g.102451840A>G | CA347946966 | IL18RAP | c.1459A>G (p.Asn487Asp) c.1033A>G (p.Asn345Asp) c.601A>G (p.Asn201Asp) | gnomAD v4 |
2 | g.102451840A>T | CA347946969 | IL18RAP | c.1459A>T (p.Asn487Tyr) c.1033A>T (p.Asn345Tyr) c.601A>T (p.Asn201Tyr) | |
2 | g.102451841A= | CA1275266621 | IL18RAP | c.1460A= (p.Asn487=) c.1034A= (p.Asn345=) c.602A= (p.Asn201=) | |
2 | g.102451841A>C | CA347946976 | IL18RAP | c.1460A>C (p.Asn487Thr) c.1034A>C (p.Asn345Thr) c.602A>C (p.Asn201Thr) | |
2 | g.102451841A>G | CA1810644 | IL18RAP | c.1460A>G (p.Asn487Ser) c.1034A>G (p.Asn345Ser) c.602A>G (p.Asn201Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451841A>T | CA347946990 | IL18RAP | c.1460A>T (p.Asn487Ile) c.1034A>T (p.Asn345Ile) c.602A>T (p.Asn201Ile) | |
2 | g.102451842T>A | CA347946994 | IL18RAP | c.1461T>A (p.Asn487Lys) c.1035T>A (p.Asn345Lys) c.603T>A (p.Asn201Lys) | |
2 | g.102451842T>C | CA1810645 | IL18RAP | c.1461T>C (p.Asn487=) c.1035T>C (p.Asn345=) c.603T>C (p.Asn201=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451842T>G | CA347947002 | IL18RAP | c.1461T>G (p.Asn487Lys) c.1035T>G (p.Asn345Lys) c.603T>G (p.Asn201Lys) | |
2 | g.102451842T= | CA1275266622 | IL18RAP | c.1461T= (p.Asn487=) c.1035T= (p.Asn345=) c.603T= (p.Asn201=) | |
2 | g.102451843G>A | CA347947006 | IL18RAP | c.1462G>A (p.Gly488Arg) c.1036G>A (p.Gly346Arg) c.604G>A (p.Gly202Arg) | |
2 | g.102451843G>C | CA347947009 | IL18RAP | c.1462G>C (p.Gly488Arg) c.1036G>C (p.Gly346Arg) c.604G>C (p.Gly202Arg) | |
2 | g.102451843G>T | CA347947012 | IL18RAP | c.1462G>T (p.Gly488Ter) c.1036G>T (p.Gly346Ter) c.604G>T (p.Gly202Ter) | |
2 | g.102451844G>A | CA347947018 | IL18RAP | c.1463G>A (p.Gly488Glu) c.1037G>A (p.Gly346Glu) c.605G>A (p.Gly202Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.102451844G>C | CA347947034 | IL18RAP | c.1463G>C (p.Gly488Ala) c.1037G>C (p.Gly346Ala) c.605G>C (p.Gly202Ala) | |
2 | g.102451844G= | CA1275266625 | IL18RAP | c.1463G= (p.Gly488=) c.1037G= (p.Gly346=) c.605G= (p.Gly202=) | |
2 | g.102451844G>T | CA347947021 | IL18RAP | c.1463G>T (p.Gly488Val) c.1037G>T (p.Gly346Val) c.605G>T (p.Gly202Val) | |
2 | g.102451845A>C | CA427843772 | IL18RAP | c.1464A>C (p.Gly488=) c.1038A>C (p.Gly346=) c.606A>C (p.Gly202=) | |
2 | g.102451845A>G | CA427843773 | IL18RAP | c.1464A>G (p.Gly488=) c.1038A>G (p.Gly346=) c.606A>G (p.Gly202=) | gnomAD v4 |
2 | g.102451845A>T | CA427843774 | IL18RAP | c.1464A>T (p.Gly488=) c.1038A>T (p.Gly346=) c.606A>T (p.Gly202=) | |
2 | g.102451846C>A | CA347947039 | IL18RAP | c.1465C>A (p.Pro489Thr) c.1039C>A (p.Pro347Thr) c.607C>A (p.Pro203Thr) | gnomAD v4 |
2 | g.102451846C>G | CA347947043 | IL18RAP | c.1465C>G (p.Pro489Ala) c.1039C>G (p.Pro347Ala) c.607C>G (p.Pro203Ala) | |
2 | g.102451846C>T | CA347947047 | IL18RAP | c.1465C>T (p.Pro489Ser) c.1039C>T (p.Pro347Ser) c.607C>T (p.Pro203Ser) | |
2 | g.102451847C>A | CA347947062 | IL18RAP | c.1466C>A (p.Pro489His) c.1040C>A (p.Pro347His) c.608C>A (p.Pro203His) | |
2 | g.102451847C= | CA1275266628 | IL18RAP | c.1466C= (p.Pro489=) c.1040C= (p.Pro347=) c.608C= (p.Pro203=) | |
2 | g.102451847C>G | CA347947068 | IL18RAP | c.1466C>G (p.Pro489Arg) c.1040C>G (p.Pro347Arg) c.608C>G (p.Pro203Arg) | |
2 | g.102451847C>T | CA347947070 | IL18RAP | c.1466C>T (p.Pro489Leu) c.1040C>T (p.Pro347Leu) c.608C>T (p.Pro203Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451848C>A | CA427843775 | IL18RAP | c.1467C>A (p.Pro489=) c.1041C>A (p.Pro347=) c.609C>A (p.Pro203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451848C= | CA1275266631 | IL18RAP | c.1467C= (p.Pro489=) c.1041C= (p.Pro347=) c.609C= (p.Pro203=) | |
2 | g.102451848C>G | CA427843776 | IL18RAP | c.1467C>G (p.Pro489=) c.1041C>G (p.Pro347=) c.609C>G (p.Pro203=) | gnomAD v4 |
2 | g.102451848C>T | CA427843778 | IL18RAP | c.1467C>T (p.Pro489=) c.1041C>T (p.Pro347=) c.609C>T (p.Pro203=) | |
2 | g.102451848_102451851del | CA2660480961 | IL18RAP | c.1467_1470del (p.Ile491LeufsTer7) c.1041_1044del (p.Ile349LeufsTer7) c.609_612del (p.Ile205LeufsTer7) | gnomAD v4 |
2 | g.102451849A= | CA1275266633 | IL18RAP | c.1468A= (p.Ser490=) c.1042A= (p.Ser348=) c.610A= (p.Ser204=) | |
2 | g.102451849A>C | CA347947076 | IL18RAP | c.1468A>C (p.Ser490Arg) c.1042A>C (p.Ser348Arg) c.610A>C (p.Ser204Arg) | |
2 | g.102451849A>G | CA347947080 | IL18RAP | c.1468A>G (p.Ser490Gly) c.1042A>G (p.Ser348Gly) c.610A>G (p.Ser204Gly) | dbSNP |
2 | g.102451849A>T | CA347947083 | IL18RAP | c.1468A>T (p.Ser490Cys) c.1042A>T (p.Ser348Cys) c.610A>T (p.Ser204Cys) | |
2 | g.102451850G>A | CA347947088 | IL18RAP | c.1469G>A (p.Ser490Asn) c.1043G>A (p.Ser348Asn) c.611G>A (p.Ser204Asn) | |
2 | g.102451850G>C | CA347947089 | IL18RAP | c.1469G>C (p.Ser490Thr) c.1043G>C (p.Ser348Thr) c.611G>C (p.Ser204Thr) | gnomAD v4 |
2 | g.102451850G>T | CA347947090 | IL18RAP | c.1469G>T (p.Ser490Ile) c.1043G>T (p.Ser348Ile) c.611G>T (p.Ser204Ile) | gnomAD v4 |
2 | g.102451851T>A | CA347947098 | IL18RAP | c.1470T>A (p.Ser490Arg) c.1044T>A (p.Ser348Arg) c.612T>A (p.Ser204Arg) | |
2 | g.102451851T>C | CA427843779 | IL18RAP | c.1470T>C (p.Ser490=) c.1044T>C (p.Ser348=) c.612T>C (p.Ser204=) | |
2 | g.102451851T>G | CA347947092 | IL18RAP | c.1470T>G (p.Ser490Arg) c.1044T>G (p.Ser348Arg) c.612T>G (p.Ser204Arg) | |
2 | g.102451852A= | CA1275266636 | IL18RAP | c.1471A= (p.Ile491=) c.1045A= (p.Ile349=) c.613A= (p.Ile205=) | |
2 | g.102451852A>C | CA347947101 | IL18RAP | c.1471A>C (p.Ile491Leu) c.1045A>C (p.Ile349Leu) c.613A>C (p.Ile205Leu) | |
2 | g.102451852A>G | CA347947118 | IL18RAP | c.1471A>G (p.Ile491Val) c.1045A>G (p.Ile349Val) c.613A>G (p.Ile205Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451852A>T | CA347947122 | IL18RAP | c.1471A>T (p.Ile491Phe) c.1045A>T (p.Ile349Phe) c.613A>T (p.Ile205Phe) | |
2 | g.102451853T>A | CA347947125 | IL18RAP | c.1472T>A (p.Ile491Asn) c.1046T>A (p.Ile349Asn) c.614T>A (p.Ile205Asn) | gnomAD v4 |
2 | g.102451853T>C | CA347947127 | IL18RAP | c.1472T>C (p.Ile491Thr) c.1046T>C (p.Ile349Thr) c.614T>C (p.Ile205Thr) | |
2 | g.102451853T>G | CA347947128 | IL18RAP | c.1472T>G (p.Ile491Ser) c.1046T>G (p.Ile349Ser) c.614T>G (p.Ile205Ser) | |
2 | g.102451854C>A | CA427843780 | IL18RAP | c.1473C>A (p.Ile491=) c.1047C>A (p.Ile349=) c.615C>A (p.Ile205=) | gnomAD v4 |
2 | g.102451854C>G | CA347947129 | IL18RAP | c.1473C>G (p.Ile491Met) c.1047C>G (p.Ile349Met) c.615C>G (p.Ile205Met) | |
2 | g.102451854C>T | CA427843781 | IL18RAP | c.1473C>T (p.Ile491=) c.1047C>T (p.Ile349=) c.615C>T (p.Ile205=) | COSMIC |
2 | g.102451855T>A | CA347947130 | IL18RAP | c.1474T>A (p.Phe492Ile) c.1048T>A (p.Phe350Ile) c.616T>A (p.Phe206Ile) | |
2 | g.102451855T>C | CA347947131 | IL18RAP | c.1474T>C (p.Phe492Leu) c.1048T>C (p.Phe350Leu) c.616T>C (p.Phe206Leu) | |
2 | g.102451855T>G | CA347947132 | IL18RAP | c.1474T>G (p.Phe492Val) c.1048T>G (p.Phe350Val) c.616T>G (p.Phe206Val) | gnomAD v4 |
2 | g.102451856T>A | CA347947135 | IL18RAP | c.1475T>A (p.Phe492Tyr) c.1049T>A (p.Phe350Tyr) c.617T>A (p.Phe206Tyr) | |
2 | g.102451856T>C | CA347947142 | IL18RAP | c.1475T>C (p.Phe492Ser) c.1049T>C (p.Phe350Ser) c.617T>C (p.Phe206Ser) | |
2 | g.102451856T>G | CA347947144 | IL18RAP | c.1475T>G (p.Phe492Cys) c.1049T>G (p.Phe350Cys) c.617T>G (p.Phe206Cys) | |
2 | g.102451857T>A | CA347947152 | IL18RAP | c.1476T>A (p.Phe492Leu) c.1050T>A (p.Phe350Leu) c.618T>A (p.Phe206Leu) | |
2 | g.102451857T>C | CA1810646 | IL18RAP | c.1476T>C (p.Phe492=) c.1050T>C (p.Phe350=) c.618T>C (p.Phe206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451857T>G | CA347947149 | IL18RAP | c.1476T>G (p.Phe492Leu) c.1050T>G (p.Phe350Leu) c.618T>G (p.Phe206Leu) | |
2 | g.102451857T= | CA1275266639 | IL18RAP | c.1476T= (p.Phe492=) c.1050T= (p.Phe350=) c.618T= (p.Phe206=) | |
2 | g.102451858del | CA2660480962 | IL18RAP | c.1477del (p.Glu493AsnfsTer6) c.1051del (p.Glu351AsnfsTer6) c.619del (p.Glu207AsnfsTer6) | gnomAD v4 |
2 | g.102451858G>A | CA347947153 | IL18RAP | c.1477G>A (p.Glu493Lys) c.1051G>A (p.Glu351Lys) c.619G>A (p.Glu207Lys) | |
2 | g.102451858G>C | CA347947154 | IL18RAP | c.1477G>C (p.Glu493Gln) c.1051G>C (p.Glu351Gln) c.619G>C (p.Glu207Gln) | |
2 | g.102451858G>T | CA347947155 | IL18RAP | c.1477G>T (p.Glu493Ter) c.1051G>T (p.Glu351Ter) c.619G>T (p.Glu207Ter) | |
2 | g.102451859A>C | CA347947159 | IL18RAP | c.1478A>C (p.Glu493Ala) c.1052A>C (p.Glu351Ala) c.620A>C (p.Glu207Ala) | |
2 | g.102451859A>G | CA347947162 | IL18RAP | c.1478A>G (p.Glu493Gly) c.1052A>G (p.Glu351Gly) c.620A>G (p.Glu207Gly) | |
2 | g.102451859A>T | CA347947167 | IL18RAP | c.1478A>T (p.Glu493Val) c.1052A>T (p.Glu351Val) c.620A>T (p.Glu207Val) | |
2 | g.102451860A>C | CA347947171 | IL18RAP | c.1479A>C (p.Glu493Asp) c.1053A>C (p.Glu351Asp) c.621A>C (p.Glu207Asp) | |
2 | g.102451860A>G | CA427843782 | IL18RAP | c.1479A>G (p.Glu493=) c.1053A>G (p.Glu351=) c.621A>G (p.Glu207=) | |
2 | g.102451860A>T | CA347947174 | IL18RAP | c.1479A>T (p.Glu493Asp) c.1053A>T (p.Glu351Asp) c.621A>T (p.Glu207Asp) | |
2 | g.102451861C>A | CA347947177 | IL18RAP | c.1480C>A (p.Leu494Ile) c.1054C>A (p.Leu352Ile) c.622C>A (p.Leu208Ile) | dbSNP |
2 | g.102451861C= | CA1275266641 | IL18RAP | c.1480C= (p.Leu494=) c.1054C= (p.Leu352=) c.622C= (p.Leu208=) | |
2 | g.102451861C>G | CA347947178 | IL18RAP | c.1480C>G (p.Leu494Val) c.1054C>G (p.Leu352Val) c.622C>G (p.Leu208Val) | |
2 | g.102451861C>T | CA427843784 | IL18RAP | c.1480C>T (p.Leu494=) c.1054C>T (p.Leu352=) c.622C>T (p.Leu208=) | dbSNP gnomAD v4 |
2 | g.102451862T>A | CA347947179 | IL18RAP | c.1481T>A (p.Leu494Gln) c.1055T>A (p.Leu352Gln) c.623T>A (p.Leu208Gln) | |
2 | g.102451862T>C | CA347947181 | IL18RAP | c.1481T>C (p.Leu494Pro) c.1055T>C (p.Leu352Pro) c.623T>C (p.Leu208Pro) | |
2 | g.102451862T>G | CA347947185 | IL18RAP | c.1481T>G (p.Leu494Arg) c.1055T>G (p.Leu352Arg) c.623T>G (p.Leu208Arg) | |
2 | g.102451863A= | CA1275266645 | IL18RAP | c.1482A= (p.Leu494=) c.1056A= (p.Leu352=) c.624A= (p.Leu208=) | |
2 | g.102451863A>C | CA427843785 | IL18RAP | c.1482A>C (p.Leu494=) c.1056A>C (p.Leu352=) c.624A>C (p.Leu208=) | |
2 | g.102451863A>G | CA427843786 | IL18RAP | c.1482A>G (p.Leu494=) c.1056A>G (p.Leu352=) c.624A>G (p.Leu208=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451863A>T | CA427843787 | IL18RAP | c.1482A>T (p.Leu494=) c.1056A>T (p.Leu352=) c.624A>T (p.Leu208=) | |
2 | g.102451864C>A | CA347947188 | IL18RAP | c.1483C>A (p.Gln495Lys) c.1057C>A (p.Gln353Lys) c.625C>A (p.Gln209Lys) | |
2 | g.102451864C>G | CA347947187 | IL18RAP | c.1483C>G (p.Gln495Glu) c.1057C>G (p.Gln353Glu) c.625C>G (p.Gln209Glu) | |
2 | g.102451864C>T | CA347947186 | IL18RAP | c.1483C>T (p.Gln495Ter) c.1057C>T (p.Gln353Ter) c.625C>T (p.Gln209Ter) | gnomAD v4 |
2 | g.102451865A>C | CA347947189 | IL18RAP | c.1484A>C (p.Gln495Pro) c.1058A>C (p.Gln353Pro) c.626A>C (p.Gln209Pro) | |
2 | g.102451865A>G | CA347947190 | IL18RAP | c.1484A>G (p.Gln495Arg) c.1058A>G (p.Gln353Arg) c.626A>G (p.Gln209Arg) | |
2 | g.102451865A>T | CA347947191 | IL18RAP | c.1484A>T (p.Gln495Leu) c.1058A>T (p.Gln353Leu) c.626A>T (p.Gln209Leu) | |
2 | g.102451866A>C | CA347947197 | IL18RAP | c.1485A>C (p.Gln495His) c.1059A>C (p.Gln353His) c.627A>C (p.Gln209His) | |
2 | g.102451866A>G | CA427843788 | IL18RAP | c.1485A>G (p.Gln495=) c.1059A>G (p.Gln353=) c.627A>G (p.Gln209=) | |
2 | g.102451866A>T | CA347947201 | IL18RAP | c.1485A>T (p.Gln495His) c.1059A>T (p.Gln353His) c.627A>T (p.Gln209His) | |
2 | g.102451867G>A | CA347947205 | IL18RAP | c.1486G>A (p.Ala496Thr) c.1060G>A (p.Ala354Thr) c.628G>A (p.Ala210Thr) | gnomAD v4 |
2 | g.102451867G>C | CA347947208 | IL18RAP | c.1486G>C (p.Ala496Pro) c.1060G>C (p.Ala354Pro) c.628G>C (p.Ala210Pro) | |
2 | g.102451867G>T | CA347947210 | IL18RAP | c.1486G>T (p.Ala496Ser) c.1060G>T (p.Ala354Ser) c.628G>T (p.Ala210Ser) | |
2 | g.102451868C>A | CA347947213 | IL18RAP | c.1487C>A (p.Ala496Glu) c.1061C>A (p.Ala354Glu) c.629C>A (p.Ala210Glu) | gnomAD v4 |
2 | g.102451868C= | CA1275266648 | IL18RAP | c.1487C= (p.Ala496=) c.1061C= (p.Ala354=) c.629C= (p.Ala210=) | |
2 | g.102451868C>G | CA1810647 | IL18RAP | c.1487C>G (p.Ala496Gly) c.1061C>G (p.Ala354Gly) c.629C>G (p.Ala210Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451868C>T | CA347947217 | IL18RAP | c.1487C>T (p.Ala496Val) c.1061C>T (p.Ala354Val) c.629C>T (p.Ala210Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451869A>C | CA427843789 | IL18RAP | c.1488A>C (p.Ala496=) c.1062A>C (p.Ala354=) c.630A>C (p.Ala210=) | |
2 | g.102451869A>G | CA427843790 | IL18RAP | c.1488A>G (p.Ala496=) c.1062A>G (p.Ala354=) c.630A>G (p.Ala210=) | gnomAD v4 |
2 | g.102451869A>T | CA427843791 | IL18RAP | c.1488A>T (p.Ala496=) c.1062A>T (p.Ala354=) c.630A>T (p.Ala210=) | |
2 | g.102451870G>A | CA347947219 | IL18RAP | c.1489G>A (p.Ala497Thr) c.1063G>A (p.Ala355Thr) c.631G>A (p.Ala211Thr) | |
2 | g.102451870G>C | CA347947223 | IL18RAP | c.1489G>C (p.Ala497Pro) c.1063G>C (p.Ala355Pro) c.631G>C (p.Ala211Pro) | |
2 | g.102451870G>T | CA347947225 | IL18RAP | c.1489G>T (p.Ala497Ser) c.1063G>T (p.Ala355Ser) c.631G>T (p.Ala211Ser) | |
2 | g.102451871C>A | CA347947243 | IL18RAP | c.1490C>A (p.Ala497Glu) c.1064C>A (p.Ala355Glu) c.632C>A (p.Ala211Glu) | |
2 | g.102451871C>G | CA347947234 | IL18RAP | c.1490C>G (p.Ala497Gly) c.1064C>G (p.Ala355Gly) c.632C>G (p.Ala211Gly) | |
2 | g.102451871C>T | CA347947230 | IL18RAP | c.1490C>T (p.Ala497Val) c.1064C>T (p.Ala355Val) c.632C>T (p.Ala211Val) | |
2 | g.102451872A>C | CA427843792 | IL18RAP | c.1491A>C (p.Ala497=) c.1065A>C (p.Ala355=) c.633A>C (p.Ala211=) | |
2 | g.102451872A>G | CA427843794 | IL18RAP | c.1491A>G (p.Ala497=) c.1065A>G (p.Ala355=) c.633A>G (p.Ala211=) | |
2 | g.102451872A>T | CA427843793 | IL18RAP | c.1491A>T (p.Ala497=) c.1065A>T (p.Ala355=) c.633A>T (p.Ala211=) | |
2 | g.102451873G>A | CA347947247 | IL18RAP | c.1492G>A (p.Val498Met) c.1066G>A (p.Val356Met) c.634G>A (p.Val212Met) | gnomAD v4 |
2 | g.102451873G>C | CA347947251 | IL18RAP | c.1492G>C (p.Val498Leu) c.1066G>C (p.Val356Leu) c.634G>C (p.Val212Leu) | |
2 | g.102451873G>T | CA347947256 | IL18RAP | c.1492G>T (p.Val498Leu) c.1066G>T (p.Val356Leu) c.634G>T (p.Val212Leu) | |
2 | g.102451874T>A | CA347947259 | IL18RAP | c.1493T>A (p.Val498Glu) c.1067T>A (p.Val356Glu) c.635T>A (p.Val212Glu) | |
2 | g.102451874T>C | CA347947263 | IL18RAP | c.1493T>C (p.Val498Ala) c.1067T>C (p.Val356Ala) c.635T>C (p.Val212Ala) | |
2 | g.102451874T>G | CA347947268 | IL18RAP | c.1493T>G (p.Val498Gly) c.1067T>G (p.Val356Gly) c.635T>G (p.Val212Gly) | |
2 | g.102451875G>A | CA427843795 | IL18RAP | c.1494G>A (p.Val498=) c.1068G>A (p.Val356=) c.636G>A (p.Val212=) | |
2 | g.102451875G>C | CA427843796 | IL18RAP | c.1494G>C (p.Val498=) c.1068G>C (p.Val356=) c.636G>C (p.Val212=) | |
2 | g.102451875G= | CA1275266652 | IL18RAP | c.1494G= (p.Val498=) c.1068G= (p.Val356=) c.636G= (p.Val212=) | |
2 | g.102451875G>T | CA427843797 | IL18RAP | c.1494G>T (p.Val498=) c.1068G>T (p.Val356=) c.636G>T (p.Val212=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451876A>C | CA347947280 | IL18RAP | c.1495A>C (p.Asn499His) c.1069A>C (p.Asn357His) c.637A>C (p.Asn213His) | |
2 | g.102451876A>G | CA347947273 | IL18RAP | c.1495A>G (p.Asn499Asp) c.1069A>G (p.Asn357Asp) c.637A>G (p.Asn213Asp) | |
2 | g.102451876A>T | CA347947275 | IL18RAP | c.1495A>T (p.Asn499Tyr) c.1069A>T (p.Asn357Tyr) c.637A>T (p.Asn213Tyr) | |
2 | g.102451877A>C | CA347947285 | IL18RAP | c.1496A>C (p.Asn499Thr) c.1070A>C (p.Asn357Thr) c.638A>C (p.Asn213Thr) | |
2 | g.102451877A>G | CA347947287 | IL18RAP | c.1496A>G (p.Asn499Ser) c.1070A>G (p.Asn357Ser) c.638A>G (p.Asn213Ser) | gnomAD v4 |
2 | g.102451877A>T | CA347947292 | IL18RAP | c.1496A>T (p.Asn499Ile) c.1070A>T (p.Asn357Ile) c.638A>T (p.Asn213Ile) | |
2 | g.102451878T>A | CA347947296 | IL18RAP | c.1497T>A (p.Asn499Lys) c.1071T>A (p.Asn357Lys) c.639T>A (p.Asn213Lys) | |
2 | g.102451878T>C | CA427843798 | IL18RAP | c.1497T>C (p.Asn499=) c.1071T>C (p.Asn357=) c.639T>C (p.Asn213=) | |
2 | g.102451878T>G | CA347947299 | IL18RAP | c.1497T>G (p.Asn499Lys) c.1071T>G (p.Asn357Lys) c.639T>G (p.Asn213Lys) | |
2 | g.102451879C>A | CA347947302 | IL18RAP | c.1498C>A (p.Leu500Ile) c.1072C>A (p.Leu358Ile) c.640C>A (p.Leu214Ile) | |
2 | g.102451879C= | CA1275266654 | IL18RAP | c.1498C= (p.Leu500=) c.1072C= (p.Leu358=) c.640C= (p.Leu214=) | |
2 | g.102451879C>G | CA347947300 | IL18RAP | c.1498C>G (p.Leu500Val) c.1072C>G (p.Leu358Val) c.640C>G (p.Leu214Val) | |
2 | g.102451879C>T | CA347947301 | IL18RAP | c.1498C>T (p.Leu500Phe) c.1072C>T (p.Leu358Phe) c.640C>T (p.Leu214Phe) | dbSNP |
2 | g.102451880T>A | CA347947306 | IL18RAP | c.1499T>A (p.Leu500His) c.1073T>A (p.Leu358His) c.641T>A (p.Leu214His) | |
2 | g.102451880T>C | CA347947307 | IL18RAP | c.1499T>C (p.Leu500Pro) c.1073T>C (p.Leu358Pro) c.641T>C (p.Leu214Pro) | |
2 | g.102451880T>G | CA347947313 | IL18RAP | c.1499T>G (p.Leu500Arg) c.1073T>G (p.Leu358Arg) c.641T>G (p.Leu214Arg) | |
2 | g.102451881T>A | CA427843800 | IL18RAP | c.1500T>A (p.Leu500=) c.1074T>A (p.Leu358=) c.642T>A (p.Leu214=) | |
2 | g.102451881T>C | CA427843799 | IL18RAP | c.1500T>C (p.Leu500=) c.1074T>C (p.Leu358=) c.642T>C (p.Leu214=) | |
2 | g.102451881T>G | CA1810648 | IL18RAP | c.1500T>G (p.Leu500=) c.1074T>G (p.Leu358=) c.642T>G (p.Leu214=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451881T= | CA1275266657 | IL18RAP | c.1500T= (p.Leu500=) c.1074T= (p.Leu358=) c.642T= (p.Leu214=) | |
2 | g.102451882G>A | CA347947318 | IL18RAP | c.1501G>A (p.Ala501Thr) c.1075G>A (p.Ala359Thr) c.643G>A (p.Ala215Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102451882G>C | CA347947323 | IL18RAP | c.1501G>C (p.Ala501Pro) c.1075G>C (p.Ala359Pro) c.643G>C (p.Ala215Pro) | |
2 | g.102451882G= | CA1275266660 | IL18RAP | c.1501G= (p.Ala501=) c.1075G= (p.Ala359=) c.643G= (p.Ala215=) | |
2 | g.102451882G>T | CA347947327 | IL18RAP | c.1501G>T (p.Ala501Ser) c.1075G>T (p.Ala359Ser) c.643G>T (p.Ala215Ser) | gnomAD v4 |
2 | g.102451883C>A | CA347947335 | IL18RAP | c.1502C>A (p.Ala501Asp) c.1076C>A (p.Ala359Asp) c.644C>A (p.Ala215Asp) | |
2 | g.102451883C= | CA1275266664 | IL18RAP | c.1502C= (p.Ala501=) c.1076C= (p.Ala359=) c.644C= (p.Ala215=) | |
2 | g.102451883C>G | CA347947354 | IL18RAP | c.1502C>G (p.Ala501Gly) c.1076C>G (p.Ala359Gly) c.644C>G (p.Ala215Gly) | |
2 | g.102451883C>T | CA347947356 | IL18RAP | c.1502C>T (p.Ala501Val) c.1076C>T (p.Ala359Val) c.644C>T (p.Ala215Val) | dbSNP gnomAD v2 COSMIC |
2 | g.102451884C>A | CA427843801 | IL18RAP | c.1503C>A (p.Ala501=) c.1077C>A (p.Ala359=) c.645C>A (p.Ala215=) | |
2 | g.102451884C>G | CA427843802 | IL18RAP | c.1503C>G (p.Ala501=) c.1077C>G (p.Ala359=) c.645C>G (p.Ala215=) | |
2 | g.102451884C>T | CA427843803 | IL18RAP | c.1503C>T (p.Ala501=) c.1077C>T (p.Ala359=) c.645C>T (p.Ala215=) | |
2 | g.102451885T>A | CA347947360 | IL18RAP | c.1504T>A (p.Leu502Met) c.1078T>A (p.Leu360Met) c.646T>A (p.Leu216Met) | |
2 | g.102451885T>C | CA427843804 | IL18RAP | c.1504T>C (p.Leu502=) c.1078T>C (p.Leu360=) c.646T>C (p.Leu216=) | |
2 | g.102451885T>G | CA347947377 | IL18RAP | c.1504T>G (p.Leu502Val) c.1078T>G (p.Leu360Val) c.646T>G (p.Leu216Val) | |
2 | g.102451886T>A | CA347947388 | IL18RAP | c.1505T>A (p.Leu502Ter) c.1079T>A (p.Leu360Ter) c.647T>A (p.Leu216Ter) | |
2 | g.102451886T>C | CA347947382 | IL18RAP | c.1505T>C (p.Leu502Ser) c.1079T>C (p.Leu360Ser) c.647T>C (p.Leu216Ser) | |
2 | g.102451886T>G | CA347947384 | IL18RAP | c.1505T>G (p.Leu502Trp) c.1079T>G (p.Leu360Trp) c.647T>G (p.Leu216Trp) | |
2 | g.102451887G>A | CA427843805 | IL18RAP | c.1506G>A (p.Leu502=) c.1080G>A (p.Leu360=) c.648G>A (p.Leu216=) | gnomAD v4 |
2 | g.102451887G>C | CA347947395 | IL18RAP | c.1506G>C (p.Leu502Phe) c.1080G>C (p.Leu360Phe) c.648G>C (p.Leu216Phe) | |
2 | g.102451887G>T | CA347947398 | IL18RAP | c.1506G>T (p.Leu502Phe) c.1080G>T (p.Leu360Phe) c.648G>T (p.Leu216Phe) | |
2 | g.102451888G>A | CA347947401 | IL18RAP | c.1507G>A (p.Asp503Asn) c.1081G>A (p.Asp361Asn) c.649G>A (p.Asp217Asn) | |
2 | g.102451888G>C | CA1810649 | IL18RAP | c.1507G>C (p.Asp503His) c.1081G>C (p.Asp361His) c.649G>C (p.Asp217His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451888G= | CA1275266668 | IL18RAP | c.1507G= (p.Asp503=) c.1081G= (p.Asp361=) c.649G= (p.Asp217=) | |
2 | g.102451888G>T | CA347947409 | IL18RAP | c.1507G>T (p.Asp503Tyr) c.1081G>T (p.Asp361Tyr) c.649G>T (p.Asp217Tyr) | |
2 | g.102451889A= | CA1275266671 | IL18RAP | c.1508A= (p.Asp503=) c.1082A= (p.Asp361=) c.650A= (p.Asp217=) | |
2 | g.102451889A>C | CA347947414 | IL18RAP | c.1508A>C (p.Asp503Ala) c.1082A>C (p.Asp361Ala) c.650A>C (p.Asp217Ala) | dbSNP |
2 | g.102451889A>G | CA347947421 | IL18RAP | c.1508A>G (p.Asp503Gly) c.1082A>G (p.Asp361Gly) c.650A>G (p.Asp217Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102451889A>T | CA347947433 | IL18RAP | c.1508A>T (p.Asp503Val) c.1082A>T (p.Asp361Val) c.650A>T (p.Asp217Val) | |
2 | g.102451890T>A | CA347947436 | IL18RAP | c.1509T>A (p.Asp503Glu) c.1083T>A (p.Asp361Glu) c.651T>A (p.Asp217Glu) | |
2 | g.102451890T>C | CA427843806 | IL18RAP | c.1509T>C (p.Asp503=) c.1083T>C (p.Asp361=) c.651T>C (p.Asp217=) | gnomAD v4 |
2 | g.102451890T>G | CA347947442 | IL18RAP | c.1509T>G (p.Asp503Glu) c.1083T>G (p.Asp361Glu) c.651T>G (p.Asp217Glu) | gnomAD v4 |
2 | g.102451891G>A | CA347947446 | IL18RAP | c.1510G>A (p.Asp504Asn) c.1084G>A (p.Asp362Asn) c.652G>A (p.Asp218Asn) | COSMIC |
2 | g.102451891G>C | CA347947452 | IL18RAP | c.1510G>C (p.Asp504His) c.1084G>C (p.Asp362His) c.652G>C (p.Asp218His) | |
2 | g.102451891G>T | CA347947457 | IL18RAP | c.1510G>T (p.Asp504Tyr) c.1084G>T (p.Asp362Tyr) c.652G>T (p.Asp218Tyr) | |
2 | g.102451892A>C | CA347947471 | IL18RAP | c.1511A>C (p.Asp504Ala) c.1085A>C (p.Asp362Ala) c.653A>C (p.Asp218Ala) | |
2 | g.102451892A>G | CA347947468 | IL18RAP | c.1511A>G (p.Asp504Gly) c.1085A>G (p.Asp362Gly) c.653A>G (p.Asp218Gly) | |
2 | g.102451892A>T | CA347947463 | IL18RAP | c.1511A>T (p.Asp504Val) c.1085A>T (p.Asp362Val) c.653A>T (p.Asp218Val) | |
2 | g.102451893T>A | CA52936138 | IL18RAP | c.1512T>A (p.Asp504Glu) c.1086T>A (p.Asp362Glu) c.654T>A (p.Asp218Glu) | dbSNP |
2 | g.102451893T>C | CA52936134 | IL18RAP | c.1512T>C (p.Asp504=) c.1086T>C (p.Asp362=) c.654T>C (p.Asp218=) | dbSNP gnomAD v4 |
2 | g.102451893T>G | CA347947483 | IL18RAP | c.1512T>G (p.Asp504Glu) c.1086T>G (p.Asp362Glu) c.654T>G (p.Asp218Glu) | |
2 | g.102451893T= | CA1275266677 | IL18RAP | c.1512T= (p.Asp504=) c.1086T= (p.Asp362=) c.654T= (p.Asp218=) | |
2 | g.102451894C>A | CA347947485 | IL18RAP | c.1513C>A (p.Gln505Lys) c.1087C>A (p.Gln363Lys) c.655C>A (p.Gln219Lys) | |
2 | g.102451894C= | CA1275266679 | IL18RAP | c.1513C= (p.Gln505=) c.1087C= (p.Gln363=) c.655C= (p.Gln219=) | |
2 | g.102451894C>G | CA347947491 | IL18RAP | c.1513C>G (p.Gln505Glu) c.1087C>G (p.Gln363Glu) c.655C>G (p.Gln219Glu) | dbSNP |
2 | g.102451894C>T | CA347947494 | IL18RAP | c.1513C>T (p.Gln505Ter) c.1087C>T (p.Gln363Ter) c.655C>T (p.Gln219Ter) | COSMIC |
2 | g.102451895A= | CA1275266683 | IL18RAP | c.1514A= (p.Gln505=) c.1088A= (p.Gln363=) c.656A= (p.Gln219=) | |
2 | g.102451895A>C | CA347947504 | IL18RAP | c.1514A>C (p.Gln505Pro) c.1088A>C (p.Gln363Pro) c.656A>C (p.Gln219Pro) | |
2 | g.102451895A>G | CA347947506 | IL18RAP | c.1514A>G (p.Gln505Arg) c.1088A>G (p.Gln363Arg) c.656A>G (p.Gln219Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451895A>T | CA347947510 | IL18RAP | c.1514A>T (p.Gln505Leu) c.1088A>T (p.Gln363Leu) c.656A>T (p.Gln219Leu) | |
2 | g.102451896A>C | CA347947515 | IL18RAP | c.1515A>C (p.Gln505His) c.1089A>C (p.Gln363His) c.657A>C (p.Gln219His) | |
2 | g.102451896A>G | CA427843807 | IL18RAP | c.1515A>G (p.Gln505=) c.1089A>G (p.Gln363=) c.657A>G (p.Gln219=) | |
2 | g.102451896A>T | CA347947519 | IL18RAP | c.1515A>T (p.Gln505His) c.1089A>T (p.Gln363His) c.657A>T (p.Gln219His) | |
2 | g.102451897A>C | CA347947524 | IL18RAP | c.1516A>C (p.Thr506Pro) c.1090A>C (p.Thr364Pro) c.658A>C (p.Thr220Pro) | |
2 | g.102451897A>G | CA347947530 | IL18RAP | c.1516A>G (p.Thr506Ala) c.1090A>G (p.Thr364Ala) c.658A>G (p.Thr220Ala) | |
2 | g.102451897A>T | CA347947533 | IL18RAP | c.1516A>T (p.Thr506Ser) c.1090A>T (p.Thr364Ser) c.658A>T (p.Thr220Ser) | |
2 | g.102451898C>A | CA347947552 | IL18RAP | c.1517C>A (p.Thr506Lys) c.1091C>A (p.Thr364Lys) c.659C>A (p.Thr220Lys) | |
2 | g.102451898C= | CA1275266685 | IL18RAP | c.1517C= (p.Thr506=) c.1091C= (p.Thr364=) c.659C= (p.Thr220=) | |
2 | g.102451898C>G | CA347947548 | IL18RAP | c.1517C>G (p.Thr506Arg) c.1091C>G (p.Thr364Arg) c.659C>G (p.Thr220Arg) | |
2 | g.102451898C>T | CA1810650 | IL18RAP | c.1517C>T (p.Thr506Ile) c.1091C>T (p.Thr364Ile) c.659C>T (p.Thr220Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451899A>C | CA427843809 | IL18RAP | c.1518A>C (p.Thr506=) c.1092A>C (p.Thr364=) c.660A>C (p.Thr220=) | |
2 | g.102451899A>G | CA427843810 | IL18RAP | c.1518A>G (p.Thr506=) c.1092A>G (p.Thr364=) c.660A>G (p.Thr220=) | COSMIC |
2 | g.102451899A>T | CA427843811 | IL18RAP | c.1518A>T (p.Thr506=) c.1092A>T (p.Thr364=) c.660A>T (p.Thr220=) | |
2 | g.102451900C>A | CA347947557 | IL18RAP | c.1519C>A (p.Leu507Met) c.1093C>A (p.Leu365Met) c.661C>A (p.Leu221Met) | |
2 | g.102451900C= | CA1275266689 | IL18RAP | c.1519C= (p.Leu507=) c.1093C= (p.Leu365=) c.661C= (p.Leu221=) | |
2 | g.102451900C>G | CA347947563 | IL18RAP | c.1519C>G (p.Leu507Val) c.1093C>G (p.Leu365Val) c.661C>G (p.Leu221Val) | |
2 | g.102451900C>T | CA52936144 | IL18RAP | c.1519C>T (p.Leu507=) c.1093C>T (p.Leu365=) c.661C>T (p.Leu221=) | dbSNP gnomAD v4 |
2 | g.102451901T>A | CA347947564 | IL18RAP | c.1520T>A (p.Leu507Gln) c.1094T>A (p.Leu365Gln) c.662T>A (p.Leu221Gln) | |
2 | g.102451901T>C | CA347947567 | IL18RAP | c.1520T>C (p.Leu507Pro) c.1094T>C (p.Leu365Pro) c.662T>C (p.Leu221Pro) | |
2 | g.102451901T>G | CA347947569 | IL18RAP | c.1520T>G (p.Leu507Arg) c.1094T>G (p.Leu365Arg) c.662T>G (p.Leu221Arg) | |
2 | g.102451902G>A | CA427843812 | IL18RAP | c.1521G>A (p.Leu507=) c.1095G>A (p.Leu365=) c.663G>A (p.Leu221=) | gnomAD v4 |
2 | g.102451902G>C | CA427843814 | IL18RAP | c.1521G>C (p.Leu507=) c.1095G>C (p.Leu365=) c.663G>C (p.Leu221=) | |
2 | g.102451902G>T | CA427843813 | IL18RAP | c.1521G>T (p.Leu507=) c.1095G>T (p.Leu365=) c.663G>T (p.Leu221=) | |
2 | g.102451903A>C | CA347947573 | IL18RAP | c.1522A>C (p.Lys508Gln) c.1096A>C (p.Lys366Gln) c.664A>C (p.Lys222Gln) | |
2 | g.102451903A>G | CA347947575 | IL18RAP | c.1522A>G (p.Lys508Glu) c.1096A>G (p.Lys366Glu) c.664A>G (p.Lys222Glu) | |
2 | g.102451903A>T | CA347947577 | IL18RAP | c.1522A>T (p.Lys508Ter) c.1096A>T (p.Lys366Ter) c.664A>T (p.Lys222Ter) | |
2 | g.102451904A>C | CA347947580 | IL18RAP | c.1523A>C (p.Lys508Thr) c.1097A>C (p.Lys366Thr) c.665A>C (p.Lys222Thr) | |
2 | g.102451904A>G | CA347947582 | IL18RAP | c.1523A>G (p.Lys508Arg) c.1097A>G (p.Lys366Arg) c.665A>G (p.Lys222Arg) | |
2 | g.102451904A>T | CA347947585 | IL18RAP | c.1523A>T (p.Lys508Ile) c.1097A>T (p.Lys366Ile) c.665A>T (p.Lys222Ile) | |
2 | g.102451905A= | CA1275266692 | IL18RAP | c.1524A= (p.Lys508=) c.1098A= (p.Lys366=) c.666A= (p.Lys222=) | |
2 | g.102451905A>C | CA52936145 | IL18RAP | c.1524A>C (p.Lys508Asn) c.1098A>C (p.Lys366Asn) c.666A>C (p.Lys222Asn) | dbSNP gnomAD v2 |
2 | g.102451905A>G | CA427843818 | IL18RAP | c.1524A>G (p.Lys508=) c.1098A>G (p.Lys366=) c.666A>G (p.Lys222=) | |
2 | g.102451905A>T | CA347947587 | IL18RAP | c.1524A>T (p.Lys508Asn) c.1098A>T (p.Lys366Asn) c.666A>T (p.Lys222Asn) | |
2 | g.102451906C>A | CA347947595 | IL18RAP | c.1525C>A (p.Leu509Ile) c.1099C>A (p.Leu367Ile) c.667C>A (p.Leu223Ile) | |
2 | g.102451906C>G | CA347947590 | IL18RAP | c.1525C>G (p.Leu509Val) c.1099C>G (p.Leu367Val) c.667C>G (p.Leu223Val) | gnomAD v4 |
2 | g.102451906C>T | CA347947593 | IL18RAP | c.1525C>T (p.Leu509Phe) c.1099C>T (p.Leu367Phe) c.667C>T (p.Leu223Phe) | gnomAD v4 |
2 | g.102451907T>A | CA347947597 | IL18RAP | c.1526T>A (p.Leu509His) c.1100T>A (p.Leu367His) c.668T>A (p.Leu223His) | gnomAD v4 |
2 | g.102451907T>C | CA347947599 | IL18RAP | c.1526T>C (p.Leu509Pro) c.1100T>C (p.Leu367Pro) c.668T>C (p.Leu223Pro) | |
2 | g.102451907T>G | CA347947600 | IL18RAP | c.1526T>G (p.Leu509Arg) c.1100T>G (p.Leu367Arg) c.668T>G (p.Leu223Arg) | |
2 | g.102451908C>A | CA427843820 | IL18RAP | c.1527C>A (p.Leu509=) c.1101C>A (p.Leu367=) c.669C>A (p.Leu223=) | gnomAD v4 |
2 | g.102451908C= | CA1275266695 | IL18RAP | c.1527C= (p.Leu509=) c.1101C= (p.Leu367=) c.669C= (p.Leu223=) | |
2 | g.102451908C>G | CA427843821 | IL18RAP | c.1527C>G (p.Leu509=) c.1101C>G (p.Leu367=) c.669C>G (p.Leu223=) | |
2 | g.102451908C>T | CA427843822 | IL18RAP | c.1527C>T (p.Leu509=) c.1101C>T (p.Leu367=) c.669C>T (p.Leu223=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.102451909A= | CA1275266699 | IL18RAP | c.1528A= (p.Ile510=) c.1102A= (p.Ile368=) c.670A= (p.Ile224=) | |
2 | g.102451909A>C | CA347947604 | IL18RAP | c.1528A>C (p.Ile510Leu) c.1102A>C (p.Ile368Leu) c.670A>C (p.Ile224Leu) | |
2 | g.102451909A>G | CA347947606 | IL18RAP | c.1528A>G (p.Ile510Val) c.1102A>G (p.Ile368Val) c.670A>G (p.Ile224Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451909A>T | CA347947608 | IL18RAP | c.1528A>T (p.Ile510Phe) c.1102A>T (p.Ile368Phe) c.670A>T (p.Ile224Phe) | |
2 | g.102451910T>A | CA347947610 | IL18RAP | c.1529T>A (p.Ile510Asn) c.1103T>A (p.Ile368Asn) c.671T>A (p.Ile224Asn) | |
2 | g.102451910T>C | CA52936146 | IL18RAP | c.1529T>C (p.Ile510Thr) c.1103T>C (p.Ile368Thr) c.671T>C (p.Ile224Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451910T>G | CA347947614 | IL18RAP | c.1529T>G (p.Ile510Ser) c.1103T>G (p.Ile368Ser) c.671T>G (p.Ile224Ser) | |
2 | g.102451910T= | CA1275266700 | IL18RAP | c.1529T= (p.Ile510=) c.1103T= (p.Ile368=) c.671T= (p.Ile224=) | |
2 | g.102451911T>A | CA427843824 | IL18RAP | c.1530T>A (p.Ile510=) c.1104T>A (p.Ile368=) c.672T>A (p.Ile224=) | |
2 | g.102451911T>C | CA427843826 | IL18RAP | c.1530T>C (p.Ile510=) c.1104T>C (p.Ile368=) c.672T>C (p.Ile224=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451911T>G | CA347947617 | IL18RAP | c.1530T>G (p.Ile510Met) c.1104T>G (p.Ile368Met) c.672T>G (p.Ile224Met) | |
2 | g.102451911T= | CA1275266703 | IL18RAP | c.1530T= (p.Ile510=) c.1104T= (p.Ile368=) c.672T= (p.Ile224=) | |
2 | g.102451912T>A | CA347947620 | IL18RAP | c.1531T>A (p.Leu511Ile) c.1105T>A (p.Leu369Ile) c.673T>A (p.Leu225Ile) | |
2 | g.102451912T>C | CA427843828 | IL18RAP | c.1531T>C (p.Leu511=) c.1105T>C (p.Leu369=) c.673T>C (p.Leu225=) | |
2 | g.102451912T>G | CA347947622 | IL18RAP | c.1531T>G (p.Leu511Val) c.1105T>G (p.Leu369Val) c.673T>G (p.Leu225Val) | |
2 | g.102451913T>A | CA347947627 | IL18RAP | c.1532T>A (p.Leu511Ter) c.1106T>A (p.Leu369Ter) c.674T>A (p.Leu225Ter) | |
2 | g.102451913T>C | CA347947631 | IL18RAP | c.1532T>C (p.Leu511Ser) c.1106T>C (p.Leu369Ser) c.674T>C (p.Leu225Ser) | |
2 | g.102451913T>G | CA347947629 | IL18RAP | c.1532T>G (p.Leu511Ter) c.1106T>G (p.Leu369Ter) c.674T>G (p.Leu225Ter) | |
2 | g.102451914A>C | CA347947634 | IL18RAP | c.1533A>C (p.Leu511Phe) c.1107A>C (p.Leu369Phe) c.675A>C (p.Leu225Phe) | |
2 | g.102451914A>G | CA427843829 | IL18RAP | c.1533A>G (p.Leu511=) c.1107A>G (p.Leu369=) c.675A>G (p.Leu225=) | gnomAD v4 |
2 | g.102451914A>T | CA347947636 | IL18RAP | c.1533A>T (p.Leu511Phe) c.1107A>T (p.Leu369Phe) c.675A>T (p.Leu225Phe) | |
2 | g.102451915A>C | CA347947640 | IL18RAP | c.1534A>C (p.Ile512Leu) c.1108A>C (p.Ile370Leu) c.676A>C (p.Ile226Leu) | |
2 | g.102451915A>G | CA347947642 | IL18RAP | c.1534A>G (p.Ile512Val) c.1108A>G (p.Ile370Val) c.676A>G (p.Ile226Val) | |
2 | g.102451915A>T | CA347947644 | IL18RAP | c.1534A>T (p.Ile512Phe) c.1108A>T (p.Ile370Phe) c.676A>T (p.Ile226Phe) | |
2 | g.102451916T>A | CA347947646 | IL18RAP | c.1535T>A (p.Ile512Asn) c.1109T>A (p.Ile370Asn) c.677T>A (p.Ile226Asn) | |
2 | g.102451916T>C | CA347947647 | IL18RAP | c.1535T>C (p.Ile512Thr) c.1109T>C (p.Ile370Thr) c.677T>C (p.Ile226Thr) | |
2 | g.102451916T>G | CA347947648 | IL18RAP | c.1535T>G (p.Ile512Ser) c.1109T>G (p.Ile370Ser) c.677T>G (p.Ile226Ser) | |
2 | g.102451917T>A | CA427843831 | IL18RAP | c.1536T>A (p.Ile512=) c.1110T>A (p.Ile370=) c.678T>A (p.Ile226=) | |
2 | g.102451917T>C | CA427843832 | IL18RAP | c.1536T>C (p.Ile512=) c.1110T>C (p.Ile370=) c.678T>C (p.Ile226=) | |
2 | g.102451917T>G | CA347947650 | IL18RAP | c.1536T>G (p.Ile512Met) c.1110T>G (p.Ile370Met) c.678T>G (p.Ile226Met) | |
2 | g.102451918A= | CA1275266705 | IL18RAP | c.1537A= (p.Lys513=) c.1111A= (p.Lys371=) c.679A= (p.Lys227=) | |
2 | g.102451918A>C | CA347947653 | IL18RAP | c.1537A>C (p.Lys513Gln) c.1111A>C (p.Lys371Gln) c.679A>C (p.Lys227Gln) | |
2 | g.102451918A>G | CA347947656 | IL18RAP | c.1537A>G (p.Lys513Glu) c.1111A>G (p.Lys371Glu) c.679A>G (p.Lys227Glu) | |
2 | g.102451918A>T | CA347947659 | IL18RAP | c.1537A>T (p.Lys513Ter) c.1111A>T (p.Lys371Ter) c.679A>T (p.Lys227Ter) | dbSNP gnomAD v4 |
2 | g.102451919A= | CA1275266709 | IL18RAP | c.1538A= (p.Lys513=) c.1112A= (p.Lys371=) c.680A= (p.Lys227=) | |
2 | g.102451919A>C | CA347947661 | IL18RAP | c.1538A>C (p.Lys513Thr) c.1112A>C (p.Lys371Thr) c.680A>C (p.Lys227Thr) | |
2 | g.102451919A>G | CA1810651 | IL18RAP | c.1538A>G (p.Lys513Arg) c.1112A>G (p.Lys371Arg) c.680A>G (p.Lys227Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451919A>T | CA347947667 | IL18RAP | c.1538A>T (p.Lys513Met) c.1112A>T (p.Lys371Met) c.680A>T (p.Lys227Met) | |
2 | g.102451920G>A | CA52936149 | IL18RAP | c.1539G>A (p.Lys513=) c.1113G>A (p.Lys371=) c.681G>A (p.Lys227=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451920G>C | CA347947672 | IL18RAP | c.1539G>C (p.Lys513Asn) c.1113G>C (p.Lys371Asn) c.681G>C (p.Lys227Asn) | gnomAD v4 |
2 | g.102451920G= | CA1275266711 | IL18RAP | c.1539G= (p.Lys513=) c.1113G= (p.Lys371=) c.681G= (p.Lys227=) | |
2 | g.102451920G>T | CA52936152 | IL18RAP | c.1539G>T (p.Lys513Asn) c.1113G>T (p.Lys371Asn) c.681G>T (p.Lys227Asn) | dbSNP gnomAD v4 COSMIC |
2 | g.102451921T>A | CA347947676 | IL18RAP | c.1540T>A (p.Phe514Ile) c.1114T>A (p.Phe372Ile) c.682T>A (p.Phe228Ile) | |
2 | g.102451921T>C | CA347947679 | IL18RAP | c.1540T>C (p.Phe514Leu) c.1114T>C (p.Phe372Leu) c.682T>C (p.Phe228Leu) | |
2 | g.102451921T>G | CA347947682 | IL18RAP | c.1540T>G (p.Phe514Val) c.1114T>G (p.Phe372Val) c.682T>G (p.Phe228Val) | |
2 | g.102451922T>A | CA1810652 | IL18RAP | c.1541T>A (p.Phe514Tyr) c.1115T>A (p.Phe372Tyr) c.683T>A (p.Phe228Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451922T>C | CA347947687 | IL18RAP | c.1541T>C (p.Phe514Ser) c.1115T>C (p.Phe372Ser) c.683T>C (p.Phe228Ser) | |
2 | g.102451922T>G | CA347947691 | IL18RAP | c.1541T>G (p.Phe514Cys) c.1115T>G (p.Phe372Cys) c.683T>G (p.Phe228Cys) | |
2 | g.102451922T= | CA1275266715 | IL18RAP | c.1541T= (p.Phe514=) c.1115T= (p.Phe372=) c.683T= (p.Phe228=) | |
2 | g.102451923C>A | CA347947694 | IL18RAP | c.1542C>A (p.Phe514Leu) c.1116C>A (p.Phe372Leu) c.684C>A (p.Phe228Leu) | COSMIC |
2 | g.102451923C>G | CA347947696 | IL18RAP | c.1542C>G (p.Phe514Leu) c.1116C>G (p.Phe372Leu) c.684C>G (p.Phe228Leu) | |
2 | g.102451923C>T | CA427843835 | IL18RAP | c.1542C>T (p.Phe514=) c.1116C>T (p.Phe372=) c.684C>T (p.Phe228=) | |
2 | g.102451924T>A | CA347947699 | IL18RAP | c.1543T>A (p.Cys515Ser) c.1117T>A (p.Cys373Ser) c.685T>A (p.Cys229Ser) | |
2 | g.102451924T>C | CA347947700 | IL18RAP | c.1543T>C (p.Cys515Arg) c.1117T>C (p.Cys373Arg) c.685T>C (p.Cys229Arg) | |
2 | g.102451924T>G | CA347947702 | IL18RAP | c.1543T>G (p.Cys515Gly) c.1117T>G (p.Cys373Gly) c.685T>G (p.Cys229Gly) | |
2 | g.102451925G>A | CA347947710 | IL18RAP | c.1544G>A (p.Cys515Tyr) c.1118G>A (p.Cys373Tyr) c.686G>A (p.Cys229Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451925G>C | CA347947707 | IL18RAP | c.1544G>C (p.Cys515Ser) c.1118G>C (p.Cys373Ser) c.686G>C (p.Cys229Ser) | |
2 | g.102451925G= | CA1275266718 | IL18RAP | c.1544G= (p.Cys515=) c.1118G= (p.Cys373=) c.686G= (p.Cys229=) | |
2 | g.102451925G>T | CA347947705 | IL18RAP | c.1544G>T (p.Cys515Phe) c.1118G>T (p.Cys373Phe) c.686G>T (p.Cys229Phe) | |
2 | g.102451926T>A | CA347947717 | IL18RAP | c.1545T>A (p.Cys515Ter) c.1119T>A (p.Cys373Ter) c.687T>A (p.Cys229Ter) | |
2 | g.102451926T>C | CA427843838 | IL18RAP | c.1545T>C (p.Cys515=) c.1119T>C (p.Cys373=) c.687T>C (p.Cys229=) | |
2 | g.102451926T>G | CA347947714 | IL18RAP | c.1545T>G (p.Cys515Trp) c.1119T>G (p.Cys373Trp) c.687T>G (p.Cys229Trp) | |
2 | g.102451927T>A | CA347947722 | IL18RAP | c.1546T>A (p.Tyr516Asn) c.1120T>A (p.Tyr374Asn) c.688T>A (p.Tyr230Asn) | gnomAD v4 |
2 | g.102451927T>C | CA347947724 | IL18RAP | c.1546T>C (p.Tyr516His) c.1120T>C (p.Tyr374His) c.688T>C (p.Tyr230His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451927T>G | CA347947726 | IL18RAP | c.1546T>G (p.Tyr516Asp) c.1120T>G (p.Tyr374Asp) c.688T>G (p.Tyr230Asp) | |
2 | g.102451927T= | CA1275266723 | IL18RAP | c.1546T= (p.Tyr516=) c.1120T= (p.Tyr374=) c.688T= (p.Tyr230=) | |
2 | g.102451928A>C | CA347947730 | IL18RAP | c.1547A>C (p.Tyr516Ser) c.1121A>C (p.Tyr374Ser) c.689A>C (p.Tyr230Ser) | |
2 | g.102451928A>G | CA347947731 | IL18RAP | c.1547A>G (p.Tyr516Cys) c.1121A>G (p.Tyr374Cys) c.689A>G (p.Tyr230Cys) | |
2 | g.102451928A>T | CA347947734 | IL18RAP | c.1547A>T (p.Tyr516Phe) c.1121A>T (p.Tyr374Phe) c.689A>T (p.Tyr230Phe) | |
2 | g.102451929C>A | CA347947736 | IL18RAP | c.1548C>A (p.Tyr516Ter) c.1122C>A (p.Tyr374Ter) c.690C>A (p.Tyr230Ter) | |
2 | g.102451929C>G | CA347947739 | IL18RAP | c.1548C>G (p.Tyr516Ter) c.1122C>G (p.Tyr374Ter) c.690C>G (p.Tyr230Ter) | |
2 | g.102451929C>T | CA427843840 | IL18RAP | c.1548C>T (p.Tyr516=) c.1122C>T (p.Tyr374=) c.690C>T (p.Tyr230=) | gnomAD v4 |
2 | g.102451930T>A | CA347947744 | IL18RAP | c.1549T>A (p.Phe517Ile) c.1123T>A (p.Phe375Ile) c.691T>A (p.Phe231Ile) | |
2 | g.102451930T>C | CA347947745 | IL18RAP | c.1549T>C (p.Phe517Leu) c.1123T>C (p.Phe375Leu) c.691T>C (p.Phe231Leu) | |
2 | g.102451930T>G | CA347947748 | IL18RAP | c.1549T>G (p.Phe517Val) c.1123T>G (p.Phe375Val) c.691T>G (p.Phe231Val) | |
2 | g.102451931T>A | CA347947756 | IL18RAP | c.1550T>A (p.Phe517Tyr) c.1124T>A (p.Phe375Tyr) c.692T>A (p.Phe231Tyr) | |
2 | g.102451931T>C | CA347947754 | IL18RAP | c.1550T>C (p.Phe517Ser) c.1124T>C (p.Phe375Ser) c.692T>C (p.Phe231Ser) | |
2 | g.102451931T>G | CA347947751 | IL18RAP | c.1550T>G (p.Phe517Cys) c.1124T>G (p.Phe375Cys) c.692T>G (p.Phe231Cys) | |
2 | g.102451932C>A | CA347947759 | IL18RAP | c.1551C>A (p.Phe517Leu) c.1125C>A (p.Phe375Leu) c.693C>A (p.Phe231Leu) | |
2 | g.102451932C>G | CA347947760 | IL18RAP | c.1551C>G (p.Phe517Leu) c.1125C>G (p.Phe375Leu) c.693C>G (p.Phe231Leu) | |
2 | g.102451932C>T | CA427843843 | IL18RAP | c.1551C>T (p.Phe517=) c.1125C>T (p.Phe375=) c.693C>T (p.Phe231=) | COSMIC |
2 | g.102451933C>A | CA347947762 | IL18RAP | c.1552C>A (p.Gln518Lys) c.1126C>A (p.Gln376Lys) c.694C>A (p.Gln232Lys) | |
2 | g.102451933C>G | CA347947765 | IL18RAP | c.1552C>G (p.Gln518Glu) c.1126C>G (p.Gln376Glu) c.694C>G (p.Gln232Glu) | |
2 | g.102451933C>T | CA347947766 | IL18RAP | c.1552C>T (p.Gln518Ter) c.1126C>T (p.Gln376Ter) c.694C>T (p.Gln232Ter) | |
2 | g.102451933_102451942del | CA2577058075 | IL18RAP | c.1552_1561del (p.Gln518SerfsTer7) c.1126_1135del (p.Gln376SerfsTer7) c.694_703del (p.Gln232SerfsTer7) | gnomAD v4 |
2 | g.102451934A>C | CA347947769 | IL18RAP | c.1553A>C (p.Gln518Pro) c.1127A>C (p.Gln376Pro) c.695A>C (p.Gln232Pro) | |
2 | g.102451934A>G | CA347947771 | IL18RAP | c.1553A>G (p.Gln518Arg) c.1127A>G (p.Gln376Arg) c.695A>G (p.Gln232Arg) | |
2 | g.102451934A>T | CA347947774 | IL18RAP | c.1553A>T (p.Gln518Leu) c.1127A>T (p.Gln376Leu) c.695A>T (p.Gln232Leu) | |
2 | g.102451935A= | CA1275266726 | IL18RAP | c.1554A= (p.Gln518=) c.1128A= (p.Gln376=) c.696A= (p.Gln232=) | |
2 | g.102451935A>C | CA347947776 | IL18RAP | c.1554A>C (p.Gln518His) c.1128A>C (p.Gln376His) c.696A>C (p.Gln232His) | |
2 | g.102451935A>G | CA427843844 | IL18RAP | c.1554A>G (p.Gln518=) c.1128A>G (p.Gln376=) c.696A>G (p.Gln232=) | dbSNP gnomAD v4 |
2 | g.102451935A>T | CA347947779 | IL18RAP | c.1554A>T (p.Gln518His) c.1128A>T (p.Gln376His) c.696A>T (p.Gln232His) |