Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.102451936G>A | CA347947782 | IL18RAP | c.1555G>A (p.Glu519Lys) c.1129G>A (p.Glu377Lys) c.697G>A (p.Glu233Lys) | dbSNP |
2 | g.102451936G>C | CA347947784 | IL18RAP | c.1555G>C (p.Glu519Gln) c.1129G>C (p.Glu377Gln) c.697G>C (p.Glu233Gln) | |
2 | g.102451936G= | CA1275266730 | IL18RAP | c.1555G= (p.Glu519=) c.1129G= (p.Glu377=) c.697G= (p.Glu233=) | |
2 | g.102451936G>T | CA347947787 | IL18RAP | c.1555G>T (p.Glu519Ter) c.1129G>T (p.Glu377Ter) c.697G>T (p.Glu233Ter) | |
2 | g.102451936_102451937delinsGA | CA1275266729 | IL18RAP | c.1555_1556delinsGA (p.Glu519=) c.1129_1130delinsGA (p.Glu377=) c.697_698delinsGA (p.Glu233=) | |
2 | g.102451937del | CA535106270 | IL18RAP | c.1556del (p.Glu519GlyfsTer9) c.1130del (p.Glu377GlyfsTer9) c.698del (p.Glu233GlyfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451937A>C | CA347947791 | IL18RAP | c.1556A>C (p.Glu519Ala) c.1130A>C (p.Glu377Ala) c.698A>C (p.Glu233Ala) | |
2 | g.102451937A>G | CA347947794 | IL18RAP | c.1556A>G (p.Glu519Gly) c.1130A>G (p.Glu377Gly) c.698A>G (p.Glu233Gly) | |
2 | g.102451937A>T | CA347947790 | IL18RAP | c.1556A>T (p.Glu519Val) c.1130A>T (p.Glu377Val) c.698A>T (p.Glu233Val) | |
2 | g.102451938G>A | CA427843848 | IL18RAP | c.1557G>A (p.Glu519=) c.1131G>A (p.Glu377=) c.699G>A (p.Glu233=) | |
2 | g.102451938G>C | CA347947796 | IL18RAP | c.1557G>C (p.Glu519Asp) c.1131G>C (p.Glu377Asp) c.699G>C (p.Glu233Asp) | |
2 | g.102451938G>T | CA347947797 | IL18RAP | c.1557G>T (p.Glu519Asp) c.1131G>T (p.Glu377Asp) c.699G>T (p.Glu233Asp) | gnomAD v4 |
2 | g.102451939C>A | CA347947801 | IL18RAP | c.1558C>A (p.Pro520Thr) c.1132C>A (p.Pro378Thr) c.700C>A (p.Pro234Thr) | gnomAD v4 |
2 | g.102451939C= | CA1275266733 | IL18RAP | c.1558C= (p.Pro520=) c.1132C= (p.Pro378=) c.700C= (p.Pro234=) | |
2 | g.102451939C>G | CA1810653 | IL18RAP | c.1558C>G (p.Pro520Ala) c.1132C>G (p.Pro378Ala) c.700C>G (p.Pro234Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102451939C>T | CA347947805 | IL18RAP | c.1558C>T (p.Pro520Ser) c.1132C>T (p.Pro378Ser) c.700C>T (p.Pro234Ser) | |
2 | g.102451940C>A | CA347947809 | IL18RAP | c.1559C>A (p.Pro520Gln) c.1133C>A (p.Pro378Gln) c.701C>A (p.Pro234Gln) | gnomAD v4 |
2 | g.102451940C= | CA1275266737 | IL18RAP | c.1559C= (p.Pro520=) c.1133C= (p.Pro378=) c.701C= (p.Pro234=) | |
2 | g.102451940C>G | CA347947810 | IL18RAP | c.1559C>G (p.Pro520Arg) c.1133C>G (p.Pro378Arg) c.701C>G (p.Pro234Arg) | |
2 | g.102451940C>T | CA347947812 | IL18RAP | c.1559C>T (p.Pro520Leu) c.1133C>T (p.Pro378Leu) c.701C>T (p.Pro234Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102451941A>C | CA427843849 | IL18RAP | c.1560A>C (p.Pro520=) c.1134A>C (p.Pro378=) c.702A>C (p.Pro234=) | |
2 | g.102451941A>G | CA427843851 | IL18RAP | c.1560A>G (p.Pro520=) c.1134A>G (p.Pro378=) c.702A>G (p.Pro234=) | COSMIC |
2 | g.102451941A>T | CA427843850 | IL18RAP | c.1560A>T (p.Pro520=) c.1134A>T (p.Pro378=) c.702A>T (p.Pro234=) | |
2 | g.102451943_102451944dup | CA52936164 | IL18RAP | c.1562_1563dup (p.Pro524TyrfsTer5) c.1136_1137dup (p.Pro382TyrfsTer5) c.704_705dup (p.Pro238TyrfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102451942G>A | CA347947818 | IL18RAP | c.1561G>A (p.Glu521Lys) c.1135G>A (p.Glu379Lys) c.703G>A (p.Glu235Lys) | gnomAD v4 |
2 | g.102451942G>C | CA347947822 | IL18RAP | c.1561G>C (p.Glu521Gln) c.1135G>C (p.Glu379Gln) c.703G>C (p.Glu235Gln) | |
2 | g.102451942G>T | CA347947824 | IL18RAP | c.1561G>T (p.Glu521Ter) c.1135G>T (p.Glu379Ter) c.703G>T (p.Glu235Ter) | |
2 | g.102451943A= | CA1275266742 | IL18RAP | c.1562A= (p.Glu521=) c.1136A= (p.Glu379=) c.704A= (p.Glu235=) | |
2 | g.102451943A>C | CA52936177 | IL18RAP | c.1562A>C (p.Glu521Ala) c.1136A>C (p.Glu379Ala) c.704A>C (p.Glu235Ala) | dbSNP |
2 | g.102451943A>G | CA347947827 | IL18RAP | c.1562A>G (p.Glu521Gly) c.1136A>G (p.Glu379Gly) c.704A>G (p.Glu235Gly) | dbSNP gnomAD v4 |
2 | g.102451943A>T | CA347947830 | IL18RAP | c.1562A>T (p.Glu521Val) c.1136A>T (p.Glu379Val) c.704A>T (p.Glu235Val) | |
2 | g.102451944G>A | CA1810654 | IL18RAP | c.1563G>A (p.Glu521=) c.1137G>A (p.Glu379=) c.705G>A (p.Glu235=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451944G>C | CA347947836 | IL18RAP | c.1563G>C (p.Glu521Asp) c.1137G>C (p.Glu379Asp) c.705G>C (p.Glu235Asp) | |
2 | g.102451944G= | CA1275266744 | IL18RAP | c.1563G= (p.Glu521=) c.1137G= (p.Glu379=) c.705G= (p.Glu235=) | |
2 | g.102451944G>T | CA347947833 | IL18RAP | c.1563G>T (p.Glu521Asp) c.1137G>T (p.Glu379Asp) c.705G>T (p.Glu235Asp) | dbSNP gnomAD v4 |
2 | g.102451945T>A | CA347947840 | IL18RAP | c.1564T>A (p.Ser522Thr) c.1138T>A (p.Ser380Thr) c.706T>A (p.Ser236Thr) | gnomAD v4 |
2 | g.102451945T>C | CA347947842 | IL18RAP | c.1564T>C (p.Ser522Pro) c.1138T>C (p.Ser380Pro) c.706T>C (p.Ser236Pro) | |
2 | g.102451945T>G | CA1810655 | IL18RAP | c.1564T>G (p.Ser522Ala) c.1138T>G (p.Ser380Ala) c.706T>G (p.Ser236Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451945T= | CA1275266748 | IL18RAP | c.1564T= (p.Ser522=) c.1138T= (p.Ser380=) c.706T= (p.Ser236=) | |
2 | g.102451946C>A | CA347947848 | IL18RAP | c.1565C>A (p.Ser522Tyr) c.1139C>A (p.Ser380Tyr) c.707C>A (p.Ser236Tyr) | |
2 | g.102451946C>G | CA347947849 | IL18RAP | c.1565C>G (p.Ser522Cys) c.1139C>G (p.Ser380Cys) c.707C>G (p.Ser236Cys) | |
2 | g.102451946C>T | CA347947850 | IL18RAP | c.1565C>T (p.Ser522Phe) c.1139C>T (p.Ser380Phe) c.707C>T (p.Ser236Phe) | gnomAD v4 |
2 | g.102451947T>A | CA427843856 | IL18RAP | c.1566T>A (p.Ser522=) c.1140T>A (p.Ser380=) c.708T>A (p.Ser236=) | |
2 | g.102451947T>C | CA427843857 | IL18RAP | c.1566T>C (p.Ser522=) c.1140T>C (p.Ser380=) c.708T>C (p.Ser236=) | |
2 | g.102451947T>G | CA427843858 | IL18RAP | c.1566T>G (p.Ser522=) c.1140T>G (p.Ser380=) c.708T>G (p.Ser236=) | gnomAD v4 |
2 | g.102451948C>A | CA347947853 | IL18RAP | c.1567C>A (p.Leu523Ile) c.1141C>A (p.Leu381Ile) c.709C>A (p.Leu237Ile) | |
2 | g.102451948C>G | CA347947855 | IL18RAP | c.1567C>G (p.Leu523Val) c.1141C>G (p.Leu381Val) c.709C>G (p.Leu237Val) | |
2 | g.102451948C>T | CA427843861 | IL18RAP | c.1567C>T (p.Leu523=) c.1141C>T (p.Leu381=) c.709C>T (p.Leu237=) | |
2 | g.102451949T>A | CA347947860 | IL18RAP | c.1568T>A (p.Leu523Gln) c.1142T>A (p.Leu381Gln) c.710T>A (p.Leu237Gln) | |
2 | g.102451949T>C | CA347947864 | IL18RAP | c.1568T>C (p.Leu523Pro) c.1142T>C (p.Leu381Pro) c.710T>C (p.Leu237Pro) | |
2 | g.102451949T>G | CA347947866 | IL18RAP | c.1568T>G (p.Leu523Arg) c.1142T>G (p.Leu381Arg) c.710T>G (p.Leu237Arg) | |
2 | g.102451950A= | CA1275266749 | IL18RAP | c.1569A= (p.Leu523=) c.1143A= (p.Leu381=) c.711A= (p.Leu237=) | |
2 | g.102451950A>C | CA427843865 | IL18RAP | c.1569A>C (p.Leu523=) c.1143A>C (p.Leu381=) c.711A>C (p.Leu237=) | |
2 | g.102451950A>G | CA427843864 | IL18RAP | c.1569A>G (p.Leu523=) c.1143A>G (p.Leu381=) c.711A>G (p.Leu237=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102451950A>T | CA427843863 | IL18RAP | c.1569A>T (p.Leu523=) c.1143A>T (p.Leu381=) c.711A>T (p.Leu237=) | |
2 | g.102451951C>A | CA347947884 | IL18RAP | c.1570C>A (p.Pro524Thr) c.1144C>A (p.Pro382Thr) c.712C>A (p.Pro238Thr) | gnomAD v4 |
2 | g.102451951C>G | CA347947893 | IL18RAP | c.1570C>G (p.Pro524Ala) c.1144C>G (p.Pro382Ala) c.712C>G (p.Pro238Ala) | |
2 | g.102451951C>T | CA347947890 | IL18RAP | c.1570C>T (p.Pro524Ser) c.1144C>T (p.Pro382Ser) c.712C>T (p.Pro238Ser) | COSMIC |
2 | g.102451952del | CA2660480963 | IL18RAP | c.1571del (p.Pro524LeufsTer4) c.1145del (p.Pro382LeufsTer4) c.713del (p.Pro238LeufsTer4) | gnomAD v4 |
2 | g.102451952C>A | CA347947898 | IL18RAP | c.1571C>A (p.Pro524His) c.1145C>A (p.Pro382His) c.713C>A (p.Pro238His) | |
2 | g.102451952C= | CA1275266753 | IL18RAP | c.1571C= (p.Pro524=) c.1145C= (p.Pro382=) c.713C= (p.Pro238=) | |
2 | g.102451952C>G | CA347947900 | IL18RAP | c.1571C>G (p.Pro524Arg) c.1145C>G (p.Pro382Arg) c.713C>G (p.Pro238Arg) | |
2 | g.102451952C>T | CA347947903 | IL18RAP | c.1571C>T (p.Pro524Leu) c.1145C>T (p.Pro382Leu) c.713C>T (p.Pro238Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102451953T>A | CA427843866 | IL18RAP | c.1572T>A (p.Pro524=) c.1146T>A (p.Pro382=) c.714T>A (p.Pro238=) | |
2 | g.102451953T>C | CA427843867 | IL18RAP | c.1572T>C (p.Pro524=) c.1146T>C (p.Pro382=) c.714T>C (p.Pro238=) | |
2 | g.102451953T>G | CA427843869 | IL18RAP | c.1572T>G (p.Pro524=) c.1146T>G (p.Pro382=) c.714T>G (p.Pro238=) | |
2 | g.102451954C>A | CA347947907 | IL18RAP | c.1573C>A (p.His525Asn) c.1147C>A (p.His383Asn) c.715C>A (p.His239Asn) | |
2 | g.102451954C>G | CA347947910 | IL18RAP | c.1573C>G (p.His525Asp) c.1147C>G (p.His383Asp) c.715C>G (p.His239Asp) | |
2 | g.102451954C>T | CA347947913 | IL18RAP | c.1573C>T (p.His525Tyr) c.1147C>T (p.His383Tyr) c.715C>T (p.His239Tyr) | |
2 | g.102451955A= | CA1275266757 | IL18RAP | c.1574A= (p.His525=) c.1148A= (p.His383=) c.716A= (p.His239=) | |
2 | g.102451955A>C | CA347947916 | IL18RAP | c.1574A>C (p.His525Pro) c.1148A>C (p.His383Pro) c.716A>C (p.His239Pro) | gnomAD v4 |
2 | g.102451955A>G | CA347947917 | IL18RAP | c.1574A>G (p.His525Arg) c.1148A>G (p.His383Arg) c.716A>G (p.His239Arg) | gnomAD v4 |
2 | g.102451955A>T | CA347947918 | IL18RAP | c.1574A>T (p.His525Leu) c.1148A>T (p.His383Leu) c.716A>T (p.His239Leu) | dbSNP gnomAD v2 gnomAD v4 |
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) |