Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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) |