Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.102451956T>A | CA347947920 | IL18RAP | c.1575T>A (p.His525Gln) c.1149T>A (p.His383Gln) c.717T>A (p.His239Gln) | |
2 | g.102451956T>C | CA427843870 | IL18RAP | c.1575T>C (p.His525=) c.1149T>C (p.His383=) c.717T>C (p.His239=) | |
2 | g.102451956T>G | CA347947922 | IL18RAP | c.1575T>G (p.His525Gln) c.1149T>G (p.His383Gln) c.717T>G (p.His239Gln) | |
2 | g.102451957C>A | CA347947931 | IL18RAP | c.1576C>A (p.Leu526Ile) c.1150C>A (p.Leu384Ile) c.718C>A (p.Leu240Ile) | |
2 | g.102451957C>G | CA347947928 | IL18RAP | c.1576C>G (p.Leu526Val) c.1150C>G (p.Leu384Val) c.718C>G (p.Leu240Val) | |
2 | g.102451957C>T | CA347947926 | IL18RAP | c.1576C>T (p.Leu526Phe) c.1150C>T (p.Leu384Phe) c.718C>T (p.Leu240Phe) | gnomAD v4 COSMIC |
2 | g.102451958T>A | CA347947945 | IL18RAP | c.1577T>A (p.Leu526His) c.1151T>A (p.Leu384His) c.719T>A (p.Leu240His) | |
2 | g.102451958T>C | CA1810656 | IL18RAP | c.1577T>C (p.Leu526Pro) c.1151T>C (p.Leu384Pro) c.719T>C (p.Leu240Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451958T>G | CA347947951 | IL18RAP | c.1577T>G (p.Leu526Arg) c.1151T>G (p.Leu384Arg) c.719T>G (p.Leu240Arg) | |
2 | g.102451958T= | CA1275266759 | IL18RAP | c.1577T= (p.Leu526=) c.1151T= (p.Leu384=) c.719T= (p.Leu240=) | |
2 | g.102451959C>A | CA427843872 | IL18RAP | c.1578C>A (p.Leu526=) c.1152C>A (p.Leu384=) c.720C>A (p.Leu240=) | dbSNP |
2 | g.102451959C= | CA1275266764 | IL18RAP | c.1578C= (p.Leu526=) c.1152C= (p.Leu384=) c.720C= (p.Leu240=) | |
2 | g.102451959C>G | CA427843873 | IL18RAP | c.1578C>G (p.Leu526=) c.1152C>G (p.Leu384=) c.720C>G (p.Leu240=) | |
2 | g.102451959C>T | CA1810657 | IL18RAP | c.1578C>T (p.Leu526=) c.1152C>T (p.Leu384=) c.720C>T (p.Leu240=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451960G>A | CA1810659 | IL18RAP | c.1579G>A (p.Val527Met) c.1153G>A (p.Val385Met) c.721G>A (p.Val241Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451960G>C | CA347947962 | IL18RAP | c.1579G>C (p.Val527Leu) c.1153G>C (p.Val385Leu) c.721G>C (p.Val241Leu) | |
2 | g.102451960G= | CA1275266767 | IL18RAP | c.1579G= (p.Val527=) c.1153G= (p.Val385=) c.721G= (p.Val241=) | |
2 | g.102451960G>T | CA1810658 | IL18RAP | c.1579G>T (p.Val527Leu) c.1153G>T (p.Val385Leu) c.721G>T (p.Val241Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451961T>A | CA347947971 | IL18RAP | c.1580T>A (p.Val527Glu) c.1154T>A (p.Val385Glu) c.722T>A (p.Val241Glu) | |
2 | g.102451961T>C | CA347947978 | IL18RAP | c.1580T>C (p.Val527Ala) c.1154T>C (p.Val385Ala) c.722T>C (p.Val241Ala) | gnomAD v4 |
2 | g.102451961T>G | CA347947979 | IL18RAP | c.1580T>G (p.Val527Gly) c.1154T>G (p.Val385Gly) c.722T>G (p.Val241Gly) | |
2 | g.102451962G>A | CA427843875 | IL18RAP | c.1581G>A (p.Val527=) c.1155G>A (p.Val385=) c.723G>A (p.Val241=) | dbSNP COSMIC |
2 | g.102451962G>C | CA427843877 | IL18RAP | c.1581G>C (p.Val527=) c.1155G>C (p.Val385=) c.723G>C (p.Val241=) | |
2 | g.102451962G= | CA1275266770 | IL18RAP | c.1581G= (p.Val527=) c.1155G= (p.Val385=) c.723G= (p.Val241=) | |
2 | g.102451962G>T | CA427843876 | IL18RAP | c.1581G>T (p.Val527=) c.1155G>T (p.Val385=) c.723G>T (p.Val241=) | |
2 | g.102451963A= | CA1275266772 | IL18RAP | c.1582A= (p.Lys528=) c.1156A= (p.Lys386=) c.724A= (p.Lys242=) | |
2 | g.102451963A>C | CA347947983 | IL18RAP | c.1582A>C (p.Lys528Gln) c.1156A>C (p.Lys386Gln) c.724A>C (p.Lys242Gln) | |
2 | g.102451963A>G | CA347947985 | IL18RAP | c.1582A>G (p.Lys528Glu) c.1156A>G (p.Lys386Glu) c.724A>G (p.Lys242Glu) | dbSNP gnomAD v4 |
2 | g.102451963A>T | CA347947988 | IL18RAP | c.1582A>T (p.Lys528Ter) c.1156A>T (p.Lys386Ter) c.724A>T (p.Lys242Ter) | |
2 | g.102451968dup | CA2660480964 | IL18RAP | c.1587dup (p.Ala530SerfsTer21) c.1161dup (p.Ala388SerfsTer21) c.729dup (p.Ala244SerfsTer21) | gnomAD v4 |
2 | g.102451968del | CA2660480965 | IL18RAP | c.1587del (p.Ala530LeufsTer13) c.1161del (p.Ala388LeufsTer13) c.729del (p.Ala244LeufsTer13) | gnomAD v4 |
2 | g.102451964A>C | CA347947993 | IL18RAP | c.1583A>C (p.Lys528Thr) c.1157A>C (p.Lys386Thr) c.725A>C (p.Lys242Thr) | |
2 | g.102451964A>G | CA347947995 | IL18RAP | c.1583A>G (p.Lys528Arg) c.1157A>G (p.Lys386Arg) c.725A>G (p.Lys242Arg) | |
2 | g.102451964A>T | CA347947991 | IL18RAP | c.1583A>T (p.Lys528Ile) c.1157A>T (p.Lys386Ile) c.725A>T (p.Lys242Ile) | |
2 | g.102451965A= | CA1275266775 | IL18RAP | c.1584A= (p.Lys528=) c.1158A= (p.Lys386=) c.726A= (p.Lys242=) | |
2 | g.102451965A>C | CA347948000 | IL18RAP | c.1584A>C (p.Lys528Asn) c.1158A>C (p.Lys386Asn) c.726A>C (p.Lys242Asn) | |
2 | g.102451965A>G | CA1810660 | IL18RAP | c.1584A>G (p.Lys528=) c.1158A>G (p.Lys386=) c.726A>G (p.Lys242=) | dbSNP ExAC |
2 | g.102451965A>T | CA347948002 | IL18RAP | c.1584A>T (p.Lys528Asn) c.1158A>T (p.Lys386Asn) c.726A>T (p.Lys242Asn) | |
2 | g.102451966A>C | CA347948004 | IL18RAP | c.1585A>C (p.Lys529Gln) c.1159A>C (p.Lys387Gln) c.727A>C (p.Lys243Gln) | |
2 | g.102451966A>G | CA347948006 | IL18RAP | c.1585A>G (p.Lys529Glu) c.1159A>G (p.Lys387Glu) c.727A>G (p.Lys243Glu) | |
2 | g.102451966A>T | CA347948005 | IL18RAP | c.1585A>T (p.Lys529Ter) c.1159A>T (p.Lys387Ter) c.727A>T (p.Lys243Ter) | |
2 | g.102451967A>C | CA347948008 | IL18RAP | c.1586A>C (p.Lys529Thr) c.1160A>C (p.Lys387Thr) c.728A>C (p.Lys243Thr) | |
2 | g.102451967A>G | CA347948013 | IL18RAP | c.1586A>G (p.Lys529Arg) c.1160A>G (p.Lys387Arg) c.728A>G (p.Lys243Arg) | |
2 | g.102451967A>T | CA347948011 | IL18RAP | c.1586A>T (p.Lys529Ile) c.1160A>T (p.Lys387Ile) c.728A>T (p.Lys243Ile) | |
2 | g.102451968A>C | CA347948015 | IL18RAP | c.1587A>C (p.Lys529Asn) c.1161A>C (p.Lys387Asn) c.729A>C (p.Lys243Asn) | |
2 | g.102451968A>G | CA427843881 | IL18RAP | c.1587A>G (p.Lys529=) c.1161A>G (p.Lys387=) c.729A>G (p.Lys243=) | |
2 | g.102451968A>T | CA347948017 | IL18RAP | c.1587A>T (p.Lys529Asn) c.1161A>T (p.Lys387Asn) c.729A>T (p.Lys243Asn) | COSMIC |
2 | g.102451969G>A | CA347948020 | IL18RAP | c.1588G>A (p.Ala530Thr) c.1162G>A (p.Ala388Thr) c.730G>A (p.Ala244Thr) | |
2 | g.102451969G>C | CA347948022 | IL18RAP | c.1588G>C (p.Ala530Pro) c.1162G>C (p.Ala388Pro) c.730G>C (p.Ala244Pro) | dbSNP |
2 | g.102451969G= | CA1275266778 | IL18RAP | c.1588G= (p.Ala530=) c.1162G= (p.Ala388=) c.730G= (p.Ala244=) | |
2 | g.102451969G>T | CA1810661 | IL18RAP | c.1588G>T (p.Ala530Ser) c.1162G>T (p.Ala388Ser) c.730G>T (p.Ala244Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451970C>A | CA347948028 | IL18RAP | c.1589C>A (p.Ala530Asp) c.1163C>A (p.Ala388Asp) c.731C>A (p.Ala244Asp) | |
2 | g.102451970C>G | CA347948031 | IL18RAP | c.1589C>G (p.Ala530Gly) c.1163C>G (p.Ala388Gly) c.731C>G (p.Ala244Gly) | |
2 | g.102451970C>T | CA347948033 | IL18RAP | c.1589C>T (p.Ala530Val) c.1163C>T (p.Ala388Val) c.731C>T (p.Ala244Val) | |
2 | g.102451971T>A | CA427843885 | IL18RAP | c.1590T>A (p.Ala530=) c.1164T>A (p.Ala388=) c.732T>A (p.Ala244=) | |
2 | g.102451971T>C | CA427843883 | IL18RAP | c.1590T>C (p.Ala530=) c.1164T>C (p.Ala388=) c.732T>C (p.Ala244=) | |
2 | g.102451971T>G | CA427843884 | IL18RAP | c.1590T>G (p.Ala530=) c.1164T>G (p.Ala388=) c.732T>G (p.Ala244=) | |
2 | g.102451972C>A | CA347948037 | IL18RAP | c.1591C>A (p.Leu531Ile) c.1165C>A (p.Leu389Ile) c.733C>A (p.Leu245Ile) | |
2 | g.102451972C>G | CA347948040 | IL18RAP | c.1591C>G (p.Leu531Val) c.1165C>G (p.Leu389Val) c.733C>G (p.Leu245Val) | |
2 | g.102451972C>T | CA347948042 | IL18RAP | c.1591C>T (p.Leu531Phe) c.1165C>T (p.Leu389Phe) c.733C>T (p.Leu245Phe) | gnomAD v4 |
2 | g.102451973T>A | CA347948050 | IL18RAP | c.1592T>A (p.Leu531His) c.1166T>A (p.Leu389His) c.734T>A (p.Leu245His) | |
2 | g.102451973T>C | CA347948048 | IL18RAP | c.1592T>C (p.Leu531Pro) c.1166T>C (p.Leu389Pro) c.734T>C (p.Leu245Pro) | |
2 | g.102451973T>G | CA347948045 | IL18RAP | c.1592T>G (p.Leu531Arg) c.1166T>G (p.Leu389Arg) c.734T>G (p.Leu245Arg) | |
2 | g.102451974C>A | CA427843889 | IL18RAP | c.1593C>A (p.Leu531=) c.1167C>A (p.Leu389=) c.735C>A (p.Leu245=) | |
2 | g.102451974C>G | CA427843890 | IL18RAP | c.1593C>G (p.Leu531=) c.1167C>G (p.Leu389=) c.735C>G (p.Leu245=) | |
2 | g.102451974C>T | CA427843891 | IL18RAP | c.1593C>T (p.Leu531=) c.1167C>T (p.Leu389=) c.735C>T (p.Leu245=) | |
2 | g.102451975A>C | CA427843892 | IL18RAP | c.1594A>C (p.Arg532=) c.1168A>C (p.Arg390=) c.736A>C (p.Arg246=) | |
2 | g.102451975A>G | CA347948053 | IL18RAP | c.1594A>G (p.Arg532Gly) c.1168A>G (p.Arg390Gly) c.736A>G (p.Arg246Gly) | gnomAD v4 |
2 | g.102451975A>T | CA347948055 | IL18RAP | c.1594A>T (p.Arg532Trp) c.1168A>T (p.Arg390Trp) c.736A>T (p.Arg246Trp) | |
2 | g.102451976G>A | CA347948058 | IL18RAP | c.1595G>A (p.Arg532Lys) c.1169G>A (p.Arg390Lys) c.737G>A (p.Arg246Lys) | |
2 | g.102451976G>C | CA347948060 | IL18RAP | c.1595G>C (p.Arg532Thr) c.1169G>C (p.Arg390Thr) c.737G>C (p.Arg246Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451976G= | CA1275266781 | IL18RAP | c.1595G= (p.Arg532=) c.1169G= (p.Arg390=) c.737G= (p.Arg246=) | |
2 | g.102451976G>T | CA347948062 | IL18RAP | c.1595G>T (p.Arg532Met) c.1169G>T (p.Arg390Met) c.737G>T (p.Arg246Met) | |
2 | g.102451977G>A | CA427843893 | IL18RAP | c.1596G>A (p.Arg532=) c.1170G>A (p.Arg390=) c.738G>A (p.Arg246=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102451977G>C | CA347948064 | IL18RAP | c.1596G>C (p.Arg532Ser) c.1170G>C (p.Arg390Ser) c.738G>C (p.Arg246Ser) | |
2 | g.102451977G= | CA1275266784 | IL18RAP | c.1596G= (p.Arg532=) c.1170G= (p.Arg390=) c.738G= (p.Arg246=) | |
2 | g.102451977G>T | CA347948067 | IL18RAP | c.1596G>T (p.Arg532Ser) c.1170G>T (p.Arg390Ser) c.738G>T (p.Arg246Ser) | |
2 | g.102451978G>A | CA347948070 | IL18RAP | c.1597G>A (p.Val533Ile) c.1171G>A (p.Val391Ile) c.739G>A (p.Val247Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102451978G>C | CA347948072 | IL18RAP | c.1597G>C (p.Val533Leu) c.1171G>C (p.Val391Leu) c.739G>C (p.Val247Leu) | |
2 | g.102451978G= | CA1275266786 | IL18RAP | c.1597G= (p.Val533=) c.1171G= (p.Val391=) c.739G= (p.Val247=) | |
2 | g.102451978G>T | CA347948073 | IL18RAP | c.1597G>T (p.Val533Phe) c.1171G>T (p.Val391Phe) c.739G>T (p.Val247Phe) | COSMIC |
2 | g.102451979T>A | CA347948074 | IL18RAP | c.1598T>A (p.Val533Asp) c.1172T>A (p.Val391Asp) c.740T>A (p.Val247Asp) | |
2 | g.102451979T>C | CA1810662 | IL18RAP | c.1598T>C (p.Val533Ala) c.1172T>C (p.Val391Ala) c.740T>C (p.Val247Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451979T>G | CA347948078 | IL18RAP | c.1598T>G (p.Val533Gly) c.1172T>G (p.Val391Gly) c.740T>G (p.Val247Gly) | |
2 | g.102451979T= | CA1275266788 | IL18RAP | c.1598T= (p.Val533=) c.1172T= (p.Val391=) c.740T= (p.Val247=) | |
2 | g.102451980T>A | CA427843894 | IL18RAP | c.1599T>A (p.Val533=) c.1173T>A (p.Val391=) c.741T>A (p.Val247=) | |
2 | g.102451980T>C | CA427843895 | IL18RAP | c.1599T>C (p.Val533=) c.1173T>C (p.Val391=) c.741T>C (p.Val247=) | |
2 | g.102451980T>G | CA427843896 | IL18RAP | c.1599T>G (p.Val533=) c.1173T>G (p.Val391=) c.741T>G (p.Val247=) | |
2 | g.102451981T>A | CA347948084 | IL18RAP | c.1600T>A (p.Leu534Met) c.1174T>A (p.Leu392Met) c.742T>A (p.Leu248Met) | |
2 | g.102451981T>C | CA427843897 | IL18RAP | c.1600T>C (p.Leu534=) c.1174T>C (p.Leu392=) c.742T>C (p.Leu248=) | |
2 | g.102451981T>G | CA347948082 | IL18RAP | c.1600T>G (p.Leu534Val) c.1174T>G (p.Leu392Val) c.742T>G (p.Leu248Val) | |
2 | g.102451982T>A | CA347948087 | IL18RAP | c.1601T>A (p.Leu534Ter) c.1175T>A (p.Leu392Ter) c.743T>A (p.Leu248Ter) | |
2 | g.102451982T>C | CA347948089 | IL18RAP | c.1601T>C (p.Leu534Ser) c.1175T>C (p.Leu392Ser) c.743T>C (p.Leu248Ser) | |
2 | g.102451982T>G | CA347948091 | IL18RAP | c.1601T>G (p.Leu534Trp) c.1175T>G (p.Leu392Trp) c.743T>G (p.Leu248Trp) | |
2 | g.102451983G>A | CA427843901 | IL18RAP | c.1602G>A (p.Leu534=) c.1176G>A (p.Leu392=) c.744G>A (p.Leu248=) | |
2 | g.102451983G>C | CA347948095 | IL18RAP | c.1602G>C (p.Leu534Phe) c.1176G>C (p.Leu392Phe) c.744G>C (p.Leu248Phe) | |
2 | g.102451983G>T | CA347948097 | IL18RAP | c.1602G>T (p.Leu534Phe) c.1176G>T (p.Leu392Phe) c.744G>T (p.Leu248Phe) | |
2 | g.102451984C>A | CA347948103 | IL18RAP | c.1603C>A (p.Pro535Thr) c.1177C>A (p.Pro393Thr) c.745C>A (p.Pro249Thr) | |
2 | g.102451984C= | CA1275266790 | IL18RAP | c.1603C= (p.Pro535=) c.1177C= (p.Pro393=) c.745C= (p.Pro249=) | |
2 | g.102451984C>G | CA347948100 | IL18RAP | c.1603C>G (p.Pro535Ala) c.1177C>G (p.Pro393Ala) c.745C>G (p.Pro249Ala) | |
2 | g.102451984C>T | CA52936220 | IL18RAP | c.1603C>T (p.Pro535Ser) c.1177C>T (p.Pro393Ser) c.745C>T (p.Pro249Ser) | dbSNP |
2 | g.102451986del | CA2660480966 | IL18RAP | c.1605del (p.Thr536GlnfsTer7) c.1179del (p.Thr394GlnfsTer7) c.747del (p.Thr250GlnfsTer7) | gnomAD v4 |
2 | g.102451985C>A | CA347948106 | IL18RAP | c.1604C>A (p.Pro535His) c.1178C>A (p.Pro393His) c.746C>A (p.Pro249His) | |
2 | g.102451985C>G | CA347948108 | IL18RAP | c.1604C>G (p.Pro535Arg) c.1178C>G (p.Pro393Arg) c.746C>G (p.Pro249Arg) | |
2 | g.102451985C>T | CA347948110 | IL18RAP | c.1604C>T (p.Pro535Leu) c.1178C>T (p.Pro393Leu) c.746C>T (p.Pro249Leu) | |
2 | g.102451986C>A | CA427843902 | IL18RAP | c.1605C>A (p.Pro535=) c.1179C>A (p.Pro393=) c.747C>A (p.Pro249=) | dbSNP gnomAD v4 |
2 | g.102451986C= | CA1275266798 | IL18RAP | c.1605C= (p.Pro535=) c.1179C= (p.Pro393=) c.747C= (p.Pro249=) | |
2 | g.102451986C>G | CA427843904 | IL18RAP | c.1605C>G (p.Pro535=) c.1179C>G (p.Pro393=) c.747C>G (p.Pro249=) | |
2 | g.102451986C>T | CA427843906 | IL18RAP | c.1605C>T (p.Pro535=) c.1179C>T (p.Pro393=) c.747C>T (p.Pro249=) | gnomAD v4 |
2 | g.102451987A>C | CA347948116 | IL18RAP | c.1606A>C (p.Thr536Pro) c.1180A>C (p.Thr394Pro) c.748A>C (p.Thr250Pro) | |
2 | g.102451987A>G | CA347948118 | IL18RAP | c.1606A>G (p.Thr536Ala) c.1180A>G (p.Thr394Ala) c.748A>G (p.Thr250Ala) | |
2 | g.102451987A>T | CA347948120 | IL18RAP | c.1606A>T (p.Thr536Ser) c.1180A>T (p.Thr394Ser) c.748A>T (p.Thr250Ser) | |
2 | g.102451988C>A | CA347948128 | IL18RAP | c.1607C>A (p.Thr536Lys) c.1181C>A (p.Thr394Lys) c.749C>A (p.Thr250Lys) | |
2 | g.102451988C>G | CA347948124 | IL18RAP | c.1607C>G (p.Thr536Arg) c.1181C>G (p.Thr394Arg) c.749C>G (p.Thr250Arg) | |
2 | g.102451988C>T | CA347948126 | IL18RAP | c.1607C>T (p.Thr536Ile) c.1181C>T (p.Thr394Ile) c.749C>T (p.Thr250Ile) | |
2 | g.102451989A>C | CA427843908 | IL18RAP | c.1608A>C (p.Thr536=) c.1182A>C (p.Thr394=) c.750A>C (p.Thr250=) | |
2 | g.102451989A>G | CA427843909 | IL18RAP | c.1608A>G (p.Thr536=) c.1182A>G (p.Thr394=) c.750A>G (p.Thr250=) | |
2 | g.102451989A>T | CA427843910 | IL18RAP | c.1608A>T (p.Thr536=) c.1182A>T (p.Thr394=) c.750A>T (p.Thr250=) | |
2 | g.102451990G>A | CA347948131 | IL18RAP | c.1609G>A (p.Val537Ile) c.1183G>A (p.Val395Ile) c.751G>A (p.Val251Ile) | |
2 | g.102451990G>C | CA347948134 | IL18RAP | c.1609G>C (p.Val537Leu) c.1183G>C (p.Val395Leu) c.751G>C (p.Val251Leu) | |
2 | g.102451990G= | CA1275266804 | IL18RAP | c.1609G= (p.Val537=) c.1183G= (p.Val395=) c.751G= (p.Val251=) | |
2 | g.102451990G>T | CA1810663 | IL18RAP | c.1609G>T (p.Val537Phe) c.1183G>T (p.Val395Phe) c.751G>T (p.Val251Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451991T>A | CA347948138 | IL18RAP | c.1610T>A (p.Val537Asp) c.1184T>A (p.Val395Asp) c.752T>A (p.Val251Asp) | |
2 | g.102451991T>C | CA347948142 | IL18RAP | c.1610T>C (p.Val537Ala) c.1184T>C (p.Val395Ala) c.752T>C (p.Val251Ala) | |
2 | g.102451991T>G | CA347948144 | IL18RAP | c.1610T>G (p.Val537Gly) c.1184T>G (p.Val395Gly) c.752T>G (p.Val251Gly) | |
2 | g.102451992T>A | CA427843914 | IL18RAP | c.1611T>A (p.Val537=) c.1185T>A (p.Val395=) c.753T>A (p.Val251=) | |
2 | g.102451992T>C | CA427843912 | IL18RAP | c.1611T>C (p.Val537=) c.1185T>C (p.Val395=) c.753T>C (p.Val251=) | |
2 | g.102451992T>G | CA427843913 | IL18RAP | c.1611T>G (p.Val537=) c.1185T>G (p.Val395=) c.753T>G (p.Val251=) | |
2 | g.102451993A= | CA1275266811 | IL18RAP | c.1612A= (p.Thr538=) c.1186A= (p.Thr396=) c.754A= (p.Thr252=) | |
2 | g.102451993A>C | CA347948148 | IL18RAP | c.1612A>C (p.Thr538Pro) c.1186A>C (p.Thr396Pro) c.754A>C (p.Thr252Pro) | |
2 | g.102451993A>G | CA347948150 | IL18RAP | c.1612A>G (p.Thr538Ala) c.1186A>G (p.Thr396Ala) c.754A>G (p.Thr252Ala) | dbSNP gnomAD v4 |
2 | g.102451993A>T | CA347948152 | IL18RAP | c.1612A>T (p.Thr538Ser) c.1186A>T (p.Thr396Ser) c.754A>T (p.Thr252Ser) | |
2 | g.102451994C>A | CA347948155 | IL18RAP | c.1613C>A (p.Thr538Asn) c.1187C>A (p.Thr396Asn) c.755C>A (p.Thr252Asn) | |
2 | g.102451994C>G | CA347948158 | IL18RAP | c.1613C>G (p.Thr538Ser) c.1187C>G (p.Thr396Ser) c.755C>G (p.Thr252Ser) | |
2 | g.102451994C>T | CA347948161 | IL18RAP | c.1613C>T (p.Thr538Ile) c.1187C>T (p.Thr396Ile) c.755C>T (p.Thr252Ile) | |
2 | g.102451995T>A | CA427843915 | IL18RAP | c.1614T>A (p.Thr538=) c.1188T>A (p.Thr396=) c.756T>A (p.Thr252=) | |
2 | g.102451995T>C | CA427843916 | IL18RAP | c.1614T>C (p.Thr538=) c.1188T>C (p.Thr396=) c.756T>C (p.Thr252=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451995T>G | CA427843917 | IL18RAP | c.1614T>G (p.Thr538=) c.1188T>G (p.Thr396=) c.756T>G (p.Thr252=) | |
2 | g.102451995T= | CA1275266814 | IL18RAP | c.1614T= (p.Thr538=) c.1188T= (p.Thr396=) c.756T= (p.Thr252=) | |
2 | g.102451996T>A | CA347948164 | IL18RAP | c.1615T>A (p.Trp539Arg) c.1189T>A (p.Trp397Arg) c.757T>A (p.Trp253Arg) | |
2 | g.102451996T>C | CA347948169 | IL18RAP | c.1615T>C (p.Trp539Arg) c.1189T>C (p.Trp397Arg) c.757T>C (p.Trp253Arg) | gnomAD v4 |
2 | g.102451996T>G | CA347948167 | IL18RAP | c.1615T>G (p.Trp539Gly) c.1189T>G (p.Trp397Gly) c.757T>G (p.Trp253Gly) | |
2 | g.102451997G>A | CA347948172 | IL18RAP | c.1616G>A (p.Trp539Ter) c.1190G>A (p.Trp397Ter) c.758G>A (p.Trp253Ter) | |
2 | g.102451997G>C | CA347948177 | IL18RAP | c.1616G>C (p.Trp539Ser) c.1190G>C (p.Trp397Ser) c.758G>C (p.Trp253Ser) | |
2 | g.102451997G>T | CA347948176 | IL18RAP | c.1616G>T (p.Trp539Leu) c.1190G>T (p.Trp397Leu) c.758G>T (p.Trp253Leu) | |
2 | g.102451998G>A | CA347948181 | IL18RAP | c.1617G>A (p.Trp539Ter) c.1191G>A (p.Trp397Ter) c.759G>A (p.Trp253Ter) | |
2 | g.102451998G>C | CA347948184 | IL18RAP | c.1617G>C (p.Trp539Cys) c.1191G>C (p.Trp397Cys) c.759G>C (p.Trp253Cys) | |
2 | g.102451998G>T | CA347948186 | IL18RAP | c.1617G>T (p.Trp539Cys) c.1191G>T (p.Trp397Cys) c.759G>T (p.Trp253Cys) | |
2 | g.102451999A>C | CA427843921 | IL18RAP | c.1618A>C (p.Arg540=) c.1192A>C (p.Arg398=) c.760A>C (p.Arg254=) | |
2 | g.102451999A>G | CA347948187 | IL18RAP | c.1618A>G (p.Arg540Gly) c.1192A>G (p.Arg398Gly) c.760A>G (p.Arg254Gly) | |
2 | g.102451999A>T | CA347948188 | IL18RAP | c.1618A>T (p.Arg540Ter) c.1192A>T (p.Arg398Ter) c.760A>T (p.Arg254Ter) | |
2 | g.102452000G>A | CA347948189 | IL18RAP | c.1619G>A (p.Arg540Lys) c.1193G>A (p.Arg398Lys) c.761G>A (p.Arg254Lys) | gnomAD v4 |
2 | g.102452000G>C | CA347948190 | IL18RAP | c.1619G>C (p.Arg540Thr) c.1193G>C (p.Arg398Thr) c.761G>C (p.Arg254Thr) | gnomAD v4 |
2 | g.102452000G>T | CA347948192 | IL18RAP | c.1619G>T (p.Arg540Ile) c.1193G>T (p.Arg398Ile) c.761G>T (p.Arg254Ile) | |
2 | g.102452001A= | CA1275266816 | IL18RAP | c.1620A= (p.Arg540=) c.1194A= (p.Arg398=) c.762A= (p.Arg254=) | |
2 | g.102452001A>C | CA347948195 | IL18RAP | c.1620A>C (p.Arg540Ser) c.1194A>C (p.Arg398Ser) c.762A>C (p.Arg254Ser) | |
2 | g.102452001A>G | CA427843925 | IL18RAP | c.1620A>G (p.Arg540=) c.1194A>G (p.Arg398=) c.762A>G (p.Arg254=) | dbSNP |
2 | g.102452001A>T | CA347948197 | IL18RAP | c.1620A>T (p.Arg540Ser) c.1194A>T (p.Arg398Ser) c.762A>T (p.Arg254Ser) | |
2 | g.102452002G>A | CA347948205 | IL18RAP | c.1621G>A (p.Gly541Ser) c.1195G>A (p.Gly399Ser) c.763G>A (p.Gly255Ser) | gnomAD v4 |
2 | g.102452002G>C | CA347948202 | IL18RAP | c.1621G>C (p.Gly541Arg) c.1195G>C (p.Gly399Arg) c.763G>C (p.Gly255Arg) | |
2 | g.102452002G>T | CA347948200 | IL18RAP | c.1621G>T (p.Gly541Cys) c.1195G>T (p.Gly399Cys) c.763G>T (p.Gly255Cys) | |
2 | g.102452003G>A | CA347948208 | IL18RAP | c.1622G>A (p.Gly541Asp) c.1196G>A (p.Gly399Asp) c.764G>A (p.Gly255Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452003G>C | CA347948210 | IL18RAP | c.1622G>C (p.Gly541Ala) c.1196G>C (p.Gly399Ala) c.764G>C (p.Gly255Ala) | |
2 | g.102452003G= | CA1275266820 | IL18RAP | c.1622G= (p.Gly541=) c.1196G= (p.Gly399=) c.764G= (p.Gly255=) | |
2 | g.102452003G>T | CA347948213 | IL18RAP | c.1622G>T (p.Gly541Val) c.1196G>T (p.Gly399Val) c.764G>T (p.Gly255Val) | |
2 | g.102452004C>A | CA427843926 | IL18RAP | c.1623C>A (p.Gly541=) c.1197C>A (p.Gly399=) c.765C>A (p.Gly255=) | |
2 | g.102452004C>G | CA427843928 | IL18RAP | c.1623C>G (p.Gly541=) c.1197C>G (p.Gly399=) c.765C>G (p.Gly255=) | |
2 | g.102452004C>T | CA427843929 | IL18RAP | c.1623C>T (p.Gly541=) c.1197C>T (p.Gly399=) c.765C>T (p.Gly255=) | gnomAD v4 |
2 | g.102452005T>A | CA347948216 | IL18RAP | c.1624T>A (p.Leu542Ile) c.1198T>A (p.Leu400Ile) c.766T>A (p.Leu256Ile) | |
2 | g.102452005T>C | CA427843930 | IL18RAP | c.1624T>C (p.Leu542=) c.1198T>C (p.Leu400=) c.766T>C (p.Leu256=) | |
2 | g.102452005T>G | CA347948218 | IL18RAP | c.1624T>G (p.Leu542Val) c.1198T>G (p.Leu400Val) c.766T>G (p.Leu256Val) | |
2 | g.102452006T>A | CA347948221 | IL18RAP | c.1625T>A (p.Leu542Ter) c.1199T>A (p.Leu400Ter) c.767T>A (p.Leu256Ter) | |
2 | g.102452006T>C | CA347948224 | IL18RAP | c.1625T>C (p.Leu542Ser) c.1199T>C (p.Leu400Ser) c.767T>C (p.Leu256Ser) | |
2 | g.102452006T>G | CA347948226 | IL18RAP | c.1625T>G (p.Leu542Ter) c.1199T>G (p.Leu400Ter) c.767T>G (p.Leu256Ter) | |
2 | g.102452007A= | CA1275266821 | IL18RAP | c.1626A= (p.Leu542=) c.1200A= (p.Leu400=) c.768A= (p.Leu256=) | |
2 | g.102452007A>C | CA347948229 | IL18RAP | c.1626A>C (p.Leu542Phe) c.1200A>C (p.Leu400Phe) c.768A>C (p.Leu256Phe) | |
2 | g.102452007A>G | CA52936232 | IL18RAP | c.1626A>G (p.Leu542=) c.1200A>G (p.Leu400=) c.768A>G (p.Leu256=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102452007A>T | CA347948245 | IL18RAP | c.1626A>T (p.Leu542Phe) c.1200A>T (p.Leu400Phe) c.768A>T (p.Leu256Phe) | |
2 | g.102452010del | CA2577058076 | IL18RAP | c.1629del (p.Lys543AsnfsTer19) c.1203del (p.Lys401AsnfsTer19) c.771del (p.Lys257AsnfsTer19) | |
2 | g.102452008A= | CA1275266826 | IL18RAP | c.1627A= (p.Lys543=) c.1201A= (p.Lys401=) c.769A= (p.Lys257=) | |
2 | g.102452008A>C | CA347948249 | IL18RAP | c.1627A>C (p.Lys543Gln) c.1201A>C (p.Lys401Gln) c.769A>C (p.Lys257Gln) | |
2 | g.102452008A>G | CA1810664 | IL18RAP | c.1627A>G (p.Lys543Glu) c.1201A>G (p.Lys401Glu) c.769A>G (p.Lys257Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452008A>T | CA347948248 | IL18RAP | c.1627A>T (p.Lys543Ter) c.1201A>T (p.Lys401Ter) c.769A>T (p.Lys257Ter) | |
2 | g.102452009A>C | CA347948253 | IL18RAP | c.1628A>C (p.Lys543Thr) c.1202A>C (p.Lys401Thr) c.770A>C (p.Lys257Thr) | gnomAD v4 |
2 | g.102452009A>G | CA347948256 | IL18RAP | c.1628A>G (p.Lys543Arg) c.1202A>G (p.Lys401Arg) c.770A>G (p.Lys257Arg) | |
2 | g.102452009A>T | CA347948258 | IL18RAP | c.1628A>T (p.Lys543Ile) c.1202A>T (p.Lys401Ile) c.770A>T (p.Lys257Ile) | |
2 | g.102452010A>C | CA347948262 | IL18RAP | c.1629A>C (p.Lys543Asn) c.1203A>C (p.Lys401Asn) c.771A>C (p.Lys257Asn) | |
2 | g.102452010A>G | CA427843933 | IL18RAP | c.1629A>G (p.Lys543=) c.1203A>G (p.Lys401=) c.771A>G (p.Lys257=) | |
2 | g.102452010A>T | CA347948263 | IL18RAP | c.1629A>T (p.Lys543Asn) c.1203A>T (p.Lys401Asn) c.771A>T (p.Lys257Asn) | |
2 | g.102452011T>A | CA347948267 | IL18RAP | c.1630T>A (p.Ser544Thr) c.1204T>A (p.Ser402Thr) c.772T>A (p.Ser258Thr) | |
2 | g.102452011T>C | CA347948269 | IL18RAP | c.1630T>C (p.Ser544Pro) c.1204T>C (p.Ser402Pro) c.772T>C (p.Ser258Pro) | |
2 | g.102452011T>G | CA347948272 | IL18RAP | c.1630T>G (p.Ser544Ala) c.1204T>G (p.Ser402Ala) c.772T>G (p.Ser258Ala) | |
2 | g.102452012C>A | CA347948276 | IL18RAP | c.1631C>A (p.Ser544Ter) c.1205C>A (p.Ser402Ter) c.773C>A (p.Ser258Ter) | COSMIC |
2 | g.102452012C>G | CA347948278 | IL18RAP | c.1631C>G (p.Ser544Ter) c.1205C>G (p.Ser402Ter) c.773C>G (p.Ser258Ter) | |
2 | g.102452012C>T | CA347948280 | IL18RAP | c.1631C>T (p.Ser544Leu) c.1205C>T (p.Ser402Leu) c.773C>T (p.Ser258Leu) | |
2 | g.102452013A= | CA1275266830 | IL18RAP | c.1632A= (p.Ser544=) c.1206A= (p.Ser402=) c.774A= (p.Ser258=) | |
2 | g.102452013A>C | CA1810666 | IL18RAP | c.1632A>C (p.Ser544=) c.1206A>C (p.Ser402=) c.774A>C (p.Ser258=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102452013A>G | CA427843934 | IL18RAP | c.1632A>G (p.Ser544=) c.1206A>G (p.Ser402=) c.774A>G (p.Ser258=) | |
2 | g.102452013A>T | CA1810665 | IL18RAP | c.1632A>T (p.Ser544=) c.1206A>T (p.Ser402=) c.774A>T (p.Ser258=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452014G>A | CA347948288 | IL18RAP | c.1633G>A (p.Val545Ile) c.1207G>A (p.Val403Ile) c.775G>A (p.Val259Ile) | |
2 | g.102452014G>C | CA347948286 | IL18RAP | c.1633G>C (p.Val545Leu) c.1207G>C (p.Val403Leu) c.775G>C (p.Val259Leu) | |
2 | g.102452014G>T | CA347948283 | IL18RAP | c.1633G>T (p.Val545Phe) c.1207G>T (p.Val403Phe) c.775G>T (p.Val259Phe) | |
2 | g.102452015T>A | CA347948291 | IL18RAP | c.1634T>A (p.Val545Asp) c.1208T>A (p.Val403Asp) c.776T>A (p.Val259Asp) | |
2 | g.102452015T>C | CA347948294 | IL18RAP | c.1634T>C (p.Val545Ala) c.1208T>C (p.Val403Ala) c.776T>C (p.Val259Ala) | |
2 | g.102452015T>G | CA347948296 | IL18RAP | c.1634T>G (p.Val545Gly) c.1208T>G (p.Val403Gly) c.776T>G (p.Val259Gly) | |
2 | g.102452016T>A | CA427843936 | IL18RAP | c.1635T>A (p.Val545=) c.1209T>A (p.Val403=) c.777T>A (p.Val259=) | |
2 | g.102452016T>C | CA427843937 | IL18RAP | c.1635T>C (p.Val545=) c.1209T>C (p.Val403=) c.777T>C (p.Val259=) | |
2 | g.102452016T>G | CA427843938 | IL18RAP | c.1635T>G (p.Val545=) c.1209T>G (p.Val403=) c.777T>G (p.Val259=) | gnomAD v4 |
2 | g.102452017C>A | CA347948299 | IL18RAP | c.1636C>A (p.Pro546Thr) c.1210C>A (p.Pro404Thr) c.778C>A (p.Pro260Thr) | |
2 | g.102452017C>G | CA347948301 | IL18RAP | c.1636C>G (p.Pro546Ala) c.1210C>G (p.Pro404Ala) c.778C>G (p.Pro260Ala) | |
2 | g.102452017C>T | CA347948303 | IL18RAP | c.1636C>T (p.Pro546Ser) c.1210C>T (p.Pro404Ser) c.778C>T (p.Pro260Ser) | |
2 | g.102452018C>A | CA347948307 | IL18RAP | c.1637C>A (p.Pro546His) c.1211C>A (p.Pro404His) c.779C>A (p.Pro260His) | |
2 | g.102452018C>G | CA347948309 | IL18RAP | c.1637C>G (p.Pro546Arg) c.1211C>G (p.Pro404Arg) c.779C>G (p.Pro260Arg) | |
2 | g.102452018C>T | CA347948311 | IL18RAP | c.1637C>T (p.Pro546Leu) c.1211C>T (p.Pro404Leu) c.779C>T (p.Pro260Leu) | COSMIC |
2 | g.102452019T>A | CA427843940 | IL18RAP | c.1638T>A (p.Pro546=) c.1212T>A (p.Pro404=) c.780T>A (p.Pro260=) | |
2 | g.102452019T>C | CA427843941 | IL18RAP | c.1638T>C (p.Pro546=) c.1212T>C (p.Pro404=) c.780T>C (p.Pro260=) | |
2 | g.102452019T>G | CA427843939 | IL18RAP | c.1638T>G (p.Pro546=) c.1212T>G (p.Pro404=) c.780T>G (p.Pro260=) | |
2 | g.102452019_102452020delinsTC | CA1275266832 | IL18RAP | c.1638_1639delinsTC (p.Pro546=) c.1212_1213delinsTC (p.Pro404=) c.780_781delinsTC (p.Pro260=) | |
2 | g.102452020C>A | CA347948312 | IL18RAP | c.1639C>A (p.Pro547Thr) c.1213C>A (p.Pro405Thr) c.781C>A (p.Pro261Thr) | |
2 | g.102452020C>G | CA347948313 | IL18RAP | c.1639C>G (p.Pro547Ala) c.1213C>G (p.Pro405Ala) c.781C>G (p.Pro261Ala) | |
2 | g.102452020C>T | CA347948314 | IL18RAP | c.1639C>T (p.Pro547Ser) c.1213C>T (p.Pro405Ser) c.781C>T (p.Pro261Ser) | gnomAD v4 |
2 | g.102452022del | CA1275266835 | IL18RAP | c.1641del (p.Asn548IlefsTer14) c.1215del (p.Asn406IlefsTer14) c.783del (p.Asn262IlefsTer14) | dbSNP |
2 | g.102452021C>A | CA347948320 | IL18RAP | c.1640C>A (p.Pro547His) c.1214C>A (p.Pro405His) c.782C>A (p.Pro261His) | |
2 | g.102452021C>G | CA347948318 | IL18RAP | c.1640C>G (p.Pro547Arg) c.1214C>G (p.Pro405Arg) c.782C>G (p.Pro261Arg) | |
2 | g.102452021C>T | CA347948316 | IL18RAP | c.1640C>T (p.Pro547Leu) c.1214C>T (p.Pro405Leu) c.782C>T (p.Pro261Leu) | |
2 | g.102452022C>A | CA427843948 | IL18RAP | c.1641C>A (p.Pro547=) c.1215C>A (p.Pro405=) c.783C>A (p.Pro261=) | gnomAD v4 |
2 | g.102452022C>G | CA427843945 | IL18RAP | c.1641C>G (p.Pro547=) c.1215C>G (p.Pro405=) c.783C>G (p.Pro261=) | |
2 | g.102452022C>T | CA427843947 | IL18RAP | c.1641C>T (p.Pro547=) c.1215C>T (p.Pro405=) c.783C>T (p.Pro261=) | COSMIC |
2 | g.102452023A= | CA1275266838 | IL18RAP | c.1642A= (p.Asn548=) c.1216A= (p.Asn406=) c.784A= (p.Asn262=) | |
2 | g.102452023A>C | CA347948322 | IL18RAP | c.1642A>C (p.Asn548His) c.1216A>C (p.Asn406His) c.784A>C (p.Asn262His) | |
2 | g.102452023A>G | CA1810667 | IL18RAP | c.1642A>G (p.Asn548Asp) c.1216A>G (p.Asn406Asp) c.784A>G (p.Asn262Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452023A>T | CA347948325 | IL18RAP | c.1642A>T (p.Asn548Tyr) c.1216A>T (p.Asn406Tyr) c.784A>T (p.Asn262Tyr) | |
2 | g.102452024A>C | CA347948329 | IL18RAP | c.1643A>C (p.Asn548Thr) c.1217A>C (p.Asn406Thr) c.785A>C (p.Asn262Thr) | |
2 | g.102452024A>G | CA347948330 | IL18RAP | c.1643A>G (p.Asn548Ser) c.1217A>G (p.Asn406Ser) c.785A>G (p.Asn262Ser) | gnomAD v4 |
2 | g.102452024A>T | CA347948331 | IL18RAP | c.1643A>T (p.Asn548Ile) c.1217A>T (p.Asn406Ile) c.785A>T (p.Asn262Ile) | |
2 | g.102452025T>A | CA347948334 | IL18RAP | c.1644T>A (p.Asn548Lys) c.1218T>A (p.Asn406Lys) c.786T>A (p.Asn262Lys) | |
2 | g.102452025T>C | CA427843949 | IL18RAP | c.1644T>C (p.Asn548=) c.1218T>C (p.Asn406=) c.786T>C (p.Asn262=) | |
2 | g.102452025T>G | CA347948336 | IL18RAP | c.1644T>G (p.Asn548Lys) c.1218T>G (p.Asn406Lys) c.786T>G (p.Asn262Lys) | |
2 | g.102452026T>A | CA347948339 | IL18RAP | c.1645T>A (p.Ser549Thr) c.1219T>A (p.Ser407Thr) c.787T>A (p.Ser263Thr) | |
2 | g.102452026T>C | CA347948341 | IL18RAP | c.1645T>C (p.Ser549Pro) c.1219T>C (p.Ser407Pro) c.787T>C (p.Ser263Pro) | |
2 | g.102452026T>G | CA347948343 | IL18RAP | c.1645T>G (p.Ser549Ala) c.1219T>G (p.Ser407Ala) c.787T>G (p.Ser263Ala) | |
2 | g.102452027C>A | CA347948345 | IL18RAP | c.1646C>A (p.Ser549Tyr) c.1220C>A (p.Ser407Tyr) c.788C>A (p.Ser263Tyr) | |
2 | g.102452027C>G | CA347948347 | IL18RAP | c.1646C>G (p.Ser549Cys) c.1220C>G (p.Ser407Cys) c.788C>G (p.Ser263Cys) | |
2 | g.102452027C>T | CA347948350 | IL18RAP | c.1646C>T (p.Ser549Phe) c.1220C>T (p.Ser407Phe) c.788C>T (p.Ser263Phe) | |
2 | g.102452028T>A | CA427843952 | IL18RAP | c.1647T>A (p.Ser549=) c.1221T>A (p.Ser407=) c.789T>A (p.Ser263=) | |
2 | g.102452028T>C | CA427843953 | IL18RAP | c.1647T>C (p.Ser549=) c.1221T>C (p.Ser407=) c.789T>C (p.Ser263=) | |
2 | g.102452028T>G | CA427843954 | IL18RAP | c.1647T>G (p.Ser549=) c.1221T>G (p.Ser407=) c.789T>G (p.Ser263=) | |
2 | g.102452029A>C | CA427843955 | IL18RAP | c.1648A>C (p.Arg550=) c.1222A>C (p.Arg408=) c.790A>C (p.Arg264=) | |
2 | g.102452029A>G | CA347948353 | IL18RAP | c.1648A>G (p.Arg550Gly) c.1222A>G (p.Arg408Gly) c.790A>G (p.Arg264Gly) | |
2 | g.102452029A>T | CA347948355 | IL18RAP | c.1648A>T (p.Arg550Trp) c.1222A>T (p.Arg408Trp) c.790A>T (p.Arg264Trp) | |
2 | g.102452030G>A | CA1810668 | IL18RAP | c.1649G>A (p.Arg550Lys) c.1223G>A (p.Arg408Lys) c.791G>A (p.Arg264Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452030G>C | CA347948360 | IL18RAP | c.1649G>C (p.Arg550Thr) c.1223G>C (p.Arg408Thr) c.791G>C (p.Arg264Thr) | gnomAD v4 |
2 | g.102452030G= | CA1275266840 | IL18RAP | c.1649G= (p.Arg550=) c.1223G= (p.Arg408=) c.791G= (p.Arg264=) | |
2 | g.102452030G>T | CA347948358 | IL18RAP | c.1649G>T (p.Arg550Met) c.1223G>T (p.Arg408Met) c.791G>T (p.Arg264Met) | COSMIC |
2 | g.102452031G>A | CA427843957 | IL18RAP | c.1650G>A (p.Arg550=) c.1224G>A (p.Arg408=) c.792G>A (p.Arg264=) | gnomAD v4 |
2 | g.102452031G>C | CA347948365 | IL18RAP | c.1650G>C (p.Arg550Ser) c.1224G>C (p.Arg408Ser) c.792G>C (p.Arg264Ser) | |
2 | g.102452031G>T | CA347948367 | IL18RAP | c.1650G>T (p.Arg550Ser) c.1224G>T (p.Arg408Ser) c.792G>T (p.Arg264Ser) | |
2 | g.102452032T>A | CA347948369 | IL18RAP | c.1651T>A (p.Phe551Ile) c.1225T>A (p.Phe409Ile) c.793T>A (p.Phe265Ile) | |
2 | g.102452032T>C | CA347948372 | IL18RAP | c.1651T>C (p.Phe551Leu) c.1225T>C (p.Phe409Leu) c.793T>C (p.Phe265Leu) | |
2 | g.102452032T>G | CA347948374 | IL18RAP | c.1651T>G (p.Phe551Val) c.1225T>G (p.Phe409Val) c.793T>G (p.Phe265Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452032T= | CA1275266843 | IL18RAP | c.1651T= (p.Phe551=) c.1225T= (p.Phe409=) c.793T= (p.Phe265=) | |
2 | g.102452033T>A | CA347948377 | IL18RAP | c.1652T>A (p.Phe551Tyr) c.1226T>A (p.Phe409Tyr) c.794T>A (p.Phe265Tyr) | |
2 | g.102452033T>C | CA347948378 | IL18RAP | c.1652T>C (p.Phe551Ser) c.1226T>C (p.Phe409Ser) c.794T>C (p.Phe265Ser) | |
2 | g.102452033T>G | CA347948379 | IL18RAP | c.1652T>G (p.Phe551Cys) c.1226T>G (p.Phe409Cys) c.794T>G (p.Phe265Cys) | |
2 | g.102452034C>A | CA347948380 | IL18RAP | c.1653C>A (p.Phe551Leu) c.1227C>A (p.Phe409Leu) c.795C>A (p.Phe265Leu) | |
2 | g.102452034C= | CA1275266846 | IL18RAP | c.1653C= (p.Phe551=) c.1227C= (p.Phe409=) c.795C= (p.Phe265=) | |
2 | g.102452034C>G | CA347948382 | IL18RAP | c.1653C>G (p.Phe551Leu) c.1227C>G (p.Phe409Leu) c.795C>G (p.Phe265Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102452034C>T | CA427843961 | IL18RAP | c.1653C>T (p.Phe551=) c.1227C>T (p.Phe409=) c.795C>T (p.Phe265=) | |
2 | g.102452035T>A | CA347948385 | IL18RAP | c.1654T>A (p.Trp552Arg) c.1228T>A (p.Trp410Arg) c.796T>A (p.Trp266Arg) | |
2 | g.102452035T>C | CA347948386 | IL18RAP | c.1654T>C (p.Trp552Arg) c.1228T>C (p.Trp410Arg) c.796T>C (p.Trp266Arg) | |
2 | g.102452035T>G | CA347948390 | IL18RAP | c.1654T>G (p.Trp552Gly) c.1228T>G (p.Trp410Gly) c.796T>G (p.Trp266Gly) | |
2 | g.102452036G>A | CA347948396 | IL18RAP | c.1655G>A (p.Trp552Ter) c.1229G>A (p.Trp410Ter) c.797G>A (p.Trp266Ter) | |
2 | g.102452036G>C | CA347948398 | IL18RAP | c.1655G>C (p.Trp552Ser) c.1229G>C (p.Trp410Ser) c.797G>C (p.Trp266Ser) | |
2 | g.102452036G>T | CA347948394 | IL18RAP | c.1655G>T (p.Trp552Leu) c.1229G>T (p.Trp410Leu) c.797G>T (p.Trp266Leu) | |
2 | g.102452037G>A | CA347948402 | IL18RAP | c.1656G>A (p.Trp552Ter) c.1230G>A (p.Trp410Ter) c.798G>A (p.Trp266Ter) | dbSNP |
2 | g.102452037G>C | CA347948404 | IL18RAP | c.1656G>C (p.Trp552Cys) c.1230G>C (p.Trp410Cys) c.798G>C (p.Trp266Cys) | |
2 | g.102452037G= | CA1275266849 | IL18RAP | c.1656G= (p.Trp552=) c.1230G= (p.Trp410=) c.798G= (p.Trp266=) | |
2 | g.102452037G>T | CA347948406 | IL18RAP | c.1656G>T (p.Trp552Cys) c.1230G>T (p.Trp410Cys) c.798G>T (p.Trp266Cys) | gnomAD v4 |
2 | g.102452038G>A | CA347948408 | IL18RAP | c.1657G>A (p.Ala553Thr) c.1231G>A (p.Ala411Thr) c.799G>A (p.Ala267Thr) | dbSNP |
2 | g.102452038G>C | CA347948409 | IL18RAP | c.1657G>C (p.Ala553Pro) c.1231G>C (p.Ala411Pro) c.799G>C (p.Ala267Pro) | |
2 | g.102452038G>T | CA347948411 | IL18RAP | c.1657G>T (p.Ala553Ser) c.1231G>T (p.Ala411Ser) c.799G>T (p.Ala267Ser) | |
2 | g.102452039C>A | CA347948413 | IL18RAP | c.1658C>A (p.Ala553Asp) c.1232C>A (p.Ala411Asp) c.800C>A (p.Ala267Asp) | COSMIC |
2 | g.102452039C>G | CA347948416 | IL18RAP | c.1658C>G (p.Ala553Gly) c.1232C>G (p.Ala411Gly) c.800C>G (p.Ala267Gly) | |
2 | g.102452039C>T | CA347948418 | IL18RAP | c.1658C>T (p.Ala553Val) c.1232C>T (p.Ala411Val) c.800C>T (p.Ala267Val) | |
2 | g.102452040C>A | CA427843971 | IL18RAP | c.1659C>A (p.Ala553=) c.1233C>A (p.Ala411=) c.801C>A (p.Ala267=) | |
2 | g.102452040C>G | CA427843970 | IL18RAP | c.1659C>G (p.Ala553=) c.1233C>G (p.Ala411=) c.801C>G (p.Ala267=) | |
2 | g.102452040C>T | CA427843969 | IL18RAP | c.1659C>T (p.Ala553=) c.1233C>T (p.Ala411=) c.801C>T (p.Ala267=) | |
2 | g.102452041A= | CA1275266852 | IL18RAP | c.1660A= (p.Lys554=) c.1234A= (p.Lys412=) c.802A= (p.Lys268=) | |
2 | g.102452041A>C | CA347948428 | IL18RAP | c.1660A>C (p.Lys554Gln) c.1234A>C (p.Lys412Gln) c.802A>C (p.Lys268Gln) | |
2 | g.102452041A>G | CA347948436 | IL18RAP | c.1660A>G (p.Lys554Glu) c.1234A>G (p.Lys412Glu) c.802A>G (p.Lys268Glu) | dbSNP |
2 | g.102452041A>T | CA347948437 | IL18RAP | c.1660A>T (p.Lys554Ter) c.1234A>T (p.Lys412Ter) c.802A>T (p.Lys268Ter) | |
2 | g.102452042A>C | CA347948442 | IL18RAP | c.1661A>C (p.Lys554Thr) c.1235A>C (p.Lys412Thr) c.803A>C (p.Lys268Thr) | |
2 | g.102452042A>G | CA347948438 | IL18RAP | c.1661A>G (p.Lys554Arg) c.1235A>G (p.Lys412Arg) c.803A>G (p.Lys268Arg) | |
2 | g.102452042A>T | CA347948441 | IL18RAP | c.1661A>T (p.Lys554Ile) c.1235A>T (p.Lys412Ile) c.803A>T (p.Lys268Ile) | |
2 | g.102452043A>C | CA347948450 | IL18RAP | c.1662A>C (p.Lys554Asn) c.1236A>C (p.Lys412Asn) c.804A>C (p.Lys268Asn) | |
2 | g.102452043A>G | CA427843975 | IL18RAP | c.1662A>G (p.Lys554=) c.1236A>G (p.Lys412=) c.804A>G (p.Lys268=) | |
2 | g.102452043A>T | CA347948452 | IL18RAP | c.1662A>T (p.Lys554Asn) c.1236A>T (p.Lys412Asn) c.804A>T (p.Lys268Asn) | |
2 | g.102452044A>C | CA347948453 | IL18RAP | c.1663A>C (p.Met555Leu) c.1237A>C (p.Met413Leu) c.805A>C (p.Met269Leu) | |
2 | g.102452044A>G | CA347948455 | IL18RAP | c.1663A>G (p.Met555Val) c.1237A>G (p.Met413Val) c.805A>G (p.Met269Val) | |
2 | g.102452044A>T | CA347948457 | IL18RAP | c.1663A>T (p.Met555Leu) c.1237A>T (p.Met413Leu) c.805A>T (p.Met269Leu) | |
2 | g.102452045T>A | CA347948458 | IL18RAP | c.1664T>A (p.Met555Lys) c.1238T>A (p.Met413Lys) c.806T>A (p.Met269Lys) | |
2 | g.102452045T>C | CA347948459 | IL18RAP | c.1664T>C (p.Met555Thr) c.1238T>C (p.Met413Thr) c.806T>C (p.Met269Thr) | |
2 | g.102452045T>G | CA347948460 | IL18RAP | c.1664T>G (p.Met555Arg) c.1238T>G (p.Met413Arg) c.806T>G (p.Met269Arg) | |
2 | g.102452046G>A | CA1810669 | IL18RAP | c.1665G>A (p.Met555Ile) c.1239G>A (p.Met413Ile) c.807G>A (p.Met269Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452046G>C | CA347948463 | IL18RAP | c.1665G>C (p.Met555Ile) c.1239G>C (p.Met413Ile) c.807G>C (p.Met269Ile) | |
2 | g.102452046G= | CA1275266855 | IL18RAP | c.1665G= (p.Met555=) c.1239G= (p.Met413=) c.807G= (p.Met269=) | |
2 | g.102452046G>T | CA347948465 | IL18RAP | c.1665G>T (p.Met555Ile) c.1239G>T (p.Met413Ile) c.807G>T (p.Met269Ile) | COSMIC |
2 | g.102452047C>A | CA347948474 | IL18RAP | c.1666C>A (p.Arg556Ser) c.1240C>A (p.Arg414Ser) c.808C>A (p.Arg270Ser) | |
2 | g.102452047C= | CA1275266859 | IL18RAP | c.1666C= (p.Arg556=) c.1240C= (p.Arg414=) c.808C= (p.Arg270=) | |
2 | g.102452047C>G | CA347948471 | IL18RAP | c.1666C>G (p.Arg556Gly) c.1240C>G (p.Arg414Gly) c.808C>G (p.Arg270Gly) | dbSNP |
2 | g.102452047C>T | CA1810670 | IL18RAP | c.1666C>T (p.Arg556Cys) c.1240C>T (p.Arg414Cys) c.808C>T (p.Arg270Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.102452048G>A | CA1810671 | IL18RAP | c.1667G>A (p.Arg556His) c.1241G>A (p.Arg414His) c.809G>A (p.Arg270His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.102452048G>C | CA347948481 | IL18RAP | c.1667G>C (p.Arg556Pro) c.1241G>C (p.Arg414Pro) c.809G>C (p.Arg270Pro) | |
2 | g.102452048G= | CA1275266863 | IL18RAP | c.1667G= (p.Arg556=) c.1241G= (p.Arg414=) c.809G= (p.Arg270=) | |
2 | g.102452048G>T | CA347948478 | IL18RAP | c.1667G>T (p.Arg556Leu) c.1241G>T (p.Arg414Leu) c.809G>T (p.Arg270Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102452049C>A | CA427843986 | IL18RAP | c.1668C>A (p.Arg556=) c.1242C>A (p.Arg414=) c.810C>A (p.Arg270=) | |
2 | g.102452049C= | CA1275266867 | IL18RAP | c.1668C= (p.Arg556=) c.1242C= (p.Arg414=) c.810C= (p.Arg270=) | |
2 | g.102452049C>G | CA427843987 | IL18RAP | c.1668C>G (p.Arg556=) c.1242C>G (p.Arg414=) c.810C>G (p.Arg270=) | dbSNP |
2 | g.102452049C>T | CA427843988 | IL18RAP | c.1668C>T (p.Arg556=) c.1242C>T (p.Arg414=) c.810C>T (p.Arg270=) | |
2 | g.102452050T>A | CA347948483 | IL18RAP | c.1669T>A (p.Tyr557Asn) c.1243T>A (p.Tyr415Asn) c.811T>A (p.Tyr271Asn) | gnomAD v4 |
2 | g.102452050T>C | CA347948485 | IL18RAP | c.1669T>C (p.Tyr557His) c.1243T>C (p.Tyr415His) c.811T>C (p.Tyr271His) | dbSNP |
2 | g.102452050T>G | CA347948487 | IL18RAP | c.1669T>G (p.Tyr557Asp) c.1243T>G (p.Tyr415Asp) c.811T>G (p.Tyr271Asp) | |
2 | g.102452051A>C | CA347948488 | IL18RAP | c.1670A>C (p.Tyr557Ser) c.1244A>C (p.Tyr415Ser) c.812A>C (p.Tyr271Ser) | |
2 | g.102452051A>G | CA347948489 | IL18RAP | c.1670A>G (p.Tyr557Cys) c.1244A>G (p.Tyr415Cys) c.812A>G (p.Tyr271Cys) | |
2 | g.102452051A>T | CA347948490 | IL18RAP | c.1670A>T (p.Tyr557Phe) c.1244A>T (p.Tyr415Phe) c.812A>T (p.Tyr271Phe) | |
2 | g.102452052C>A | CA347948491 | IL18RAP | c.1671C>A (p.Tyr557Ter) c.1245C>A (p.Tyr415Ter) c.813C>A (p.Tyr271Ter) | |
2 | g.102452052C>G | CA347948492 | IL18RAP | c.1671C>G (p.Tyr557Ter) c.1245C>G (p.Tyr415Ter) c.813C>G (p.Tyr271Ter) | |
2 | g.102452052C>T | CA427843989 | IL18RAP | c.1671C>T (p.Tyr557=) c.1245C>T (p.Tyr415=) c.813C>T (p.Tyr271=) | gnomAD v4 |
2 | g.102452053C>A | CA347948493 | IL18RAP | c.1672C>A (p.His558Asn) c.1246C>A (p.His416Asn) c.814C>A (p.His272Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452053C= | CA1275266874 | IL18RAP | c.1672C= (p.His558=) c.1246C= (p.His416=) c.814C= (p.His272=) | |
2 | g.102452053C>G | CA347948494 | IL18RAP | c.1672C>G (p.His558Asp) c.1246C>G (p.His416Asp) c.814C>G (p.His272Asp) | |
2 | g.102452053C>T | CA1810672 | IL18RAP | c.1672C>T (p.His558Tyr) c.1246C>T (p.His416Tyr) c.814C>T (p.His272Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.102452054A= | CA1275266876 | IL18RAP | c.1673A= (p.His558=) c.1247A= (p.His416=) c.815A= (p.His272=) | |
2 | g.102452054A>C | CA347948501 | IL18RAP | c.1673A>C (p.His558Pro) c.1247A>C (p.His416Pro) c.815A>C (p.His272Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452054A>G | CA347948497 | IL18RAP | c.1673A>G (p.His558Arg) c.1247A>G (p.His416Arg) c.815A>G (p.His272Arg) | |
2 | g.102452054A>T | CA347948498 | IL18RAP | c.1673A>T (p.His558Leu) c.1247A>T (p.His416Leu) c.815A>T (p.His272Leu) | |
2 | g.102452055C>A | CA347948502 | IL18RAP | c.1674C>A (p.His558Gln) c.1248C>A (p.His416Gln) c.816C>A (p.His272Gln) | |
2 | g.102452055C>G | CA347948504 | IL18RAP | c.1674C>G (p.His558Gln) c.1248C>G (p.His416Gln) c.816C>G (p.His272Gln) | |
2 | g.102452055C>T | CA427843992 | IL18RAP | c.1674C>T (p.His558=) c.1248C>T (p.His416=) c.816C>T (p.His272=) | |
2 | g.102452056A>C | CA347948507 | IL18RAP | c.1675A>C (p.Met559Leu) c.1249A>C (p.Met417Leu) c.817A>C (p.Met273Leu) | |
2 | g.102452056A>G | CA347948509 | IL18RAP | c.1675A>G (p.Met559Val) c.1249A>G (p.Met417Val) c.817A>G (p.Met273Val) | COSMIC |
2 | g.102452056A>T | CA347948511 | IL18RAP | c.1675A>T (p.Met559Leu) c.1249A>T (p.Met417Leu) c.817A>T (p.Met273Leu) |