Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.102452010del | CA2577058076 | IL18RAP | c.1629del (p.Lys543AsnfsTer19) c.1203del (p.Lys401AsnfsTer19) c.771del (p.Lys257AsnfsTer19) | |
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) | |
2 | g.102452057T>A | CA347948514 | IL18RAP | c.1676T>A (p.Met559Lys) c.1250T>A (p.Met417Lys) c.818T>A (p.Met273Lys) | |
2 | g.102452057T>C | CA347948515 | IL18RAP | c.1676T>C (p.Met559Thr) c.1250T>C (p.Met417Thr) c.818T>C (p.Met273Thr) | |
2 | g.102452057T>G | CA347948516 | IL18RAP | c.1676T>G (p.Met559Arg) c.1250T>G (p.Met417Arg) c.818T>G (p.Met273Arg) | |
2 | g.102452058G>A | CA347948517 | IL18RAP | c.1677G>A (p.Met559Ile) c.1251G>A (p.Met417Ile) c.819G>A (p.Met273Ile) | |
2 | g.102452058G>C | CA347948523 | IL18RAP | c.1677G>C (p.Met559Ile) c.1251G>C (p.Met417Ile) c.819G>C (p.Met273Ile) | |
2 | g.102452058G>T | CA347948525 | IL18RAP | c.1677G>T (p.Met559Ile) c.1251G>T (p.Met417Ile) c.819G>T (p.Met273Ile) | |
2 | g.102452059C>A | CA347948530 | IL18RAP | c.1678C>A (p.Pro560Thr) c.1252C>A (p.Pro418Thr) c.820C>A (p.Pro274Thr) | |
2 | g.102452059C>G | CA347948532 | IL18RAP | c.1678C>G (p.Pro560Ala) c.1252C>G (p.Pro418Ala) c.820C>G (p.Pro274Ala) | |
2 | g.102452059C>T | CA347948528 | IL18RAP | c.1678C>T (p.Pro560Ser) c.1252C>T (p.Pro418Ser) c.820C>T (p.Pro274Ser) | |
2 | g.102452060C>A | CA347948535 | IL18RAP | c.1679C>A (p.Pro560His) c.1253C>A (p.Pro418His) c.821C>A (p.Pro274His) | |
2 | g.102452060C= | CA1275266878 | IL18RAP | c.1679C= (p.Pro560=) c.1253C= (p.Pro418=) c.821C= (p.Pro274=) | |
2 | g.102452060C>G | CA347948537 | IL18RAP | c.1679C>G (p.Pro560Arg) c.1253C>G (p.Pro418Arg) c.821C>G (p.Pro274Arg) | |
2 | g.102452060C>T | CA347948539 | IL18RAP | c.1679C>T (p.Pro560Leu) c.1253C>T (p.Pro418Leu) c.821C>T (p.Pro274Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102452061T>A | CA427843999 | IL18RAP | c.1680T>A (p.Pro560=) c.1254T>A (p.Pro418=) c.822T>A (p.Pro274=) | |
2 | g.102452061T>C | CA427844000 | IL18RAP | c.1680T>C (p.Pro560=) c.1254T>C (p.Pro418=) c.822T>C (p.Pro274=) | |
2 | g.102452061T>G | CA427843997 | IL18RAP | c.1680T>G (p.Pro560=) c.1254T>G (p.Pro418=) c.822T>G (p.Pro274=) | |
2 | g.102452062G>A | CA347948542 | IL18RAP | c.1681G>A (p.Val561Met) c.1255G>A (p.Val419Met) c.823G>A (p.Val275Met) | |
2 | g.102452062G>C | CA347948545 | IL18RAP | c.1681G>C (p.Val561Leu) c.1255G>C (p.Val419Leu) c.823G>C (p.Val275Leu) | |
2 | g.102452062G>T | CA347948547 | IL18RAP | c.1681G>T (p.Val561Leu) c.1255G>T (p.Val419Leu) c.823G>T (p.Val275Leu) | |
2 | g.102452063T>A | CA347948550 | IL18RAP | c.1682T>A (p.Val561Glu) c.1256T>A (p.Val419Glu) c.824T>A (p.Val275Glu) | |
2 | g.102452063T>C | CA347948552 | IL18RAP | c.1682T>C (p.Val561Ala) c.1256T>C (p.Val419Ala) c.824T>C (p.Val275Ala) | |
2 | g.102452063T>G | CA347948554 | IL18RAP | c.1682T>G (p.Val561Gly) c.1256T>G (p.Val419Gly) c.824T>G (p.Val275Gly) | |
2 | g.102452064G>A | CA427844003 | IL18RAP | c.1683G>A (p.Val561=) c.1257G>A (p.Val419=) c.825G>A (p.Val275=) | gnomAD v4 COSMIC |
2 | g.102452064G>C | CA427844004 | IL18RAP | c.1683G>C (p.Val561=) c.1257G>C (p.Val419=) c.825G>C (p.Val275=) | |
2 | g.102452064G>T | CA427844005 | IL18RAP | c.1683G>T (p.Val561=) c.1257G>T (p.Val419=) c.825G>T (p.Val275=) | |
2 | g.102452065A>C | CA347948557 | IL18RAP | c.1684A>C (p.Lys562Gln) c.1258A>C (p.Lys420Gln) c.826A>C (p.Lys276Gln) | |
2 | g.102452065A>G | CA347948558 | IL18RAP | c.1684A>G (p.Lys562Glu) c.1258A>G (p.Lys420Glu) c.826A>G (p.Lys276Glu) | |
2 | g.102452065A>T | CA347948559 | IL18RAP | c.1684A>T (p.Lys562Ter) c.1258A>T (p.Lys420Ter) c.826A>T (p.Lys276Ter) | |
2 | g.102452069del | CA427844007 | IL18RAP | c.1688del (p.Asn563ThrfsTer?) c.1262del (p.Asn421ThrfsTer?) c.830del (p.Asn277ThrfsTer?) | |
2 | g.102452066A= | CA1275266882 | IL18RAP | c.1685A= (p.Lys562=) c.1259A= (p.Lys420=) c.827A= (p.Lys276=) | |
2 | g.102452066A>C | CA347948561 | IL18RAP | c.1685A>C (p.Lys562Thr) c.1259A>C (p.Lys420Thr) c.827A>C (p.Lys276Thr) | |
2 | g.102452066A>G | CA347948564 | IL18RAP | c.1685A>G (p.Lys562Arg) c.1259A>G (p.Lys420Arg) c.827A>G (p.Lys276Arg) | |
2 | g.102452066A>T | CA347948560 | IL18RAP | c.1685A>T (p.Lys562Ile) c.1259A>T (p.Lys420Ile) c.827A>T (p.Lys276Ile) | dbSNP |
2 | g.102452067A>C | CA347948567 | IL18RAP | c.1686A>C (p.Lys562Asn) c.1260A>C (p.Lys420Asn) c.828A>C (p.Lys276Asn) | |
2 | g.102452067A>G | CA427844008 | IL18RAP | c.1686A>G (p.Lys562=) c.1260A>G (p.Lys420=) c.828A>G (p.Lys276=) | |
2 | g.102452067A>T | CA347948569 | IL18RAP | c.1686A>T (p.Lys562Asn) c.1260A>T (p.Lys420Asn) c.828A>T (p.Lys276Asn) | |
2 | g.102452068A>C | CA347948576 | IL18RAP | c.1687A>C (p.Asn563His) c.1261A>C (p.Asn421His) c.829A>C (p.Asn277His) | |
2 | g.102452068A>G | CA347948578 | IL18RAP | c.1687A>G (p.Asn563Asp) c.1261A>G (p.Asn421Asp) c.829A>G (p.Asn277Asp) | |
2 | g.102452068A>T | CA347948579 | IL18RAP | c.1687A>T (p.Asn563Tyr) c.1261A>T (p.Asn421Tyr) c.829A>T (p.Asn277Tyr) | |
2 | g.102452069A= | CA1275266884 | IL18RAP | c.1688A= (p.Asn563=) c.1262A= (p.Asn421=) c.830A= (p.Asn277=) | |
2 | g.102452069A>C | CA347948585 | IL18RAP | c.1688A>C (p.Asn563Thr) c.1262A>C (p.Asn421Thr) c.830A>C (p.Asn277Thr) | |
2 | g.102452069A>G | CA347948581 | IL18RAP | c.1688A>G (p.Asn563Ser) c.1262A>G (p.Asn421Ser) c.830A>G (p.Asn277Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102452069A>T | CA347948583 | IL18RAP | c.1688A>T (p.Asn563Ile) c.1262A>T (p.Asn421Ile) c.830A>T (p.Asn277Ile) | |
2 | g.102452070del | CA2660480967 | IL18RAP | c.1689del (p.Ser564LeufsTer?) c.1263del (p.Ser422LeufsTer?) c.831del (p.Ser278LeufsTer?) | gnomAD v4 |
2 | g.102452070C>A | CA347948588 | IL18RAP | c.1689C>A (p.Asn563Lys) c.1263C>A (p.Asn421Lys) c.831C>A (p.Asn277Lys) | |
2 | g.102452070C= | CA1275266886 | IL18RAP | c.1689C= (p.Asn563=) c.1263C= (p.Asn421=) c.831C= (p.Asn277=) | |
2 | g.102452070C>G | CA347948590 | IL18RAP | c.1689C>G (p.Asn563Lys) c.1263C>G (p.Asn421Lys) c.831C>G (p.Asn277Lys) | |
2 | g.102452070C>T | CA427844013 | IL18RAP | c.1689C>T (p.Asn563=) c.1263C>T (p.Asn421=) c.831C>T (p.Asn277=) | dbSNP gnomAD v4 |
2 | g.102452071T>A | CA347948591 | IL18RAP | c.1690T>A (p.Ser564Thr) c.1264T>A (p.Ser422Thr) c.832T>A (p.Ser278Thr) | |
2 | g.102452071T>C | CA347948592 | IL18RAP | c.1690T>C (p.Ser564Pro) c.1264T>C (p.Ser422Pro) c.832T>C (p.Ser278Pro) | |
2 | g.102452071T>G | CA347948593 | IL18RAP | c.1690T>G (p.Ser564Ala) c.1264T>G (p.Ser422Ala) c.832T>G (p.Ser278Ala) | dbSNP gnomAD v2 COSMIC |
2 | g.102452071T= | CA1275266888 | IL18RAP | c.1690T= (p.Ser564=) c.1264T= (p.Ser422=) c.832T= (p.Ser278=) | |
2 | g.102452072C>A | CA347948596 | IL18RAP | c.1691C>A (p.Ser564Tyr) c.1265C>A (p.Ser422Tyr) c.833C>A (p.Ser278Tyr) | |
2 | g.102452072C= | CA1275266891 | IL18RAP | c.1691C= (p.Ser564=) c.1265C= (p.Ser422=) c.833C= (p.Ser278=) | |
2 | g.102452072C>G | CA347948595 | IL18RAP | c.1691C>G (p.Ser564Cys) c.1265C>G (p.Ser422Cys) c.833C>G (p.Ser278Cys) | |
2 | g.102452072C>T | CA347948594 | IL18RAP | c.1691C>T (p.Ser564Phe) c.1265C>T (p.Ser422Phe) c.833C>T (p.Ser278Phe) | dbSNP gnomAD v2 |
2 | g.102452073T>A | CA427844015 | IL18RAP | c.1692T>A (p.Ser564=) c.1266T>A (p.Ser422=) c.834T>A (p.Ser278=) | |
2 | g.102452073T>C | CA427844016 | IL18RAP | c.1692T>C (p.Ser564=) c.1266T>C (p.Ser422=) c.834T>C (p.Ser278=) | |
2 | g.102452073T>G | CA427844017 | IL18RAP | c.1692T>G (p.Ser564=) c.1266T>G (p.Ser422=) c.834T>G (p.Ser278=) | |
2 | g.102452074C>A | CA347948597 | IL18RAP | c.1693C>A (p.Gln565Lys) c.1267C>A (p.Gln423Lys) c.835C>A (p.Gln279Lys) | |
2 | g.102452074C>G | CA347948599 | IL18RAP | c.1693C>G (p.Gln565Glu) c.1267C>G (p.Gln423Glu) c.835C>G (p.Gln279Glu) | gnomAD v4 |
2 | g.102452074C>T | CA347948598 | IL18RAP | c.1693C>T (p.Gln565Ter) c.1267C>T (p.Gln423Ter) c.835C>T (p.Gln279Ter) | |
2 | g.102452075A= | CA1275266893 | IL18RAP | c.1694A= (p.Gln565=) c.1268A= (p.Gln423=) c.836A= (p.Gln279=) | |
2 | g.102452075A>C | CA347948600 | IL18RAP | c.1694A>C (p.Gln565Pro) c.1268A>C (p.Gln423Pro) c.836A>C (p.Gln279Pro) | |
2 | g.102452075A>G | CA347948602 | IL18RAP | c.1694A>G (p.Gln565Arg) c.1268A>G (p.Gln423Arg) c.836A>G (p.Gln279Arg) | gnomAD v4 |
2 | g.102452075A>T | CA347948604 | IL18RAP | c.1694A>T (p.Gln565Leu) c.1268A>T (p.Gln423Leu) c.836A>T (p.Gln279Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102452076G>A | CA427844022 | IL18RAP | c.1695G>A (p.Gln565=) c.1269G>A (p.Gln423=) c.837G>A (p.Gln279=) | dbSNP |
2 | g.102452076G>C | CA347948607 | IL18RAP | c.1695G>C (p.Gln565His) c.1269G>C (p.Gln423His) c.837G>C (p.Gln279His) | gnomAD v4 |
2 | g.102452076G= | CA1275266896 | IL18RAP | c.1695G= (p.Gln565=) c.1269G= (p.Gln423=) c.837G= (p.Gln279=) | |
2 | g.102452076G>T | CA1810673 | IL18RAP | c.1695G>T (p.Gln565His) c.1269G>T (p.Gln423His) c.837G>T (p.Gln279His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.102452077G>A | CA347948614 | IL18RAP | c.1696G>A (p.Gly566Arg) c.1270G>A (p.Gly424Arg) c.838G>A (p.Gly280Arg) | |
2 | g.102452077G>C | CA347948616 | IL18RAP | c.1696G>C (p.Gly566Arg) c.1270G>C (p.Gly424Arg) c.838G>C (p.Gly280Arg) | gnomAD v4 |
2 | g.102452077G>T | CA347948618 | IL18RAP | c.1696G>T (p.Gly566Ter) c.1270G>T (p.Gly424Ter) c.838G>T (p.Gly280Ter) | |
2 | g.102452078G>A | CA1810674 | IL18RAP | c.1697G>A (p.Gly566Glu) c.1271G>A (p.Gly424Glu) c.839G>A (p.Gly280Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452078G>C | CA347948619 | IL18RAP | c.1697G>C (p.Gly566Ala) c.1271G>C (p.Gly424Ala) c.839G>C (p.Gly280Ala) | |
2 | g.102452078G= | CA1275266899 | IL18RAP | c.1697G= (p.Gly566=) c.1271G= (p.Gly424=) c.839G= (p.Gly280=) | |
2 | g.102452078G>T | CA347948620 | IL18RAP | c.1697G>T (p.Gly566Val) c.1271G>T (p.Gly424Val) c.839G>T (p.Gly280Val) | |
2 | g.102452079A= | CA1275266903 | IL18RAP | c.1698A= (p.Gly566=) c.1272A= (p.Gly424=) c.840A= (p.Gly280=) | |
2 | g.102452079A>C | CA427844024 | IL18RAP | c.1698A>C (p.Gly566=) c.1272A>C (p.Gly424=) c.840A>C (p.Gly280=) | |
2 | g.102452079A>G | CA11254157 | IL18RAP | c.1698A>G (p.Gly566=) c.1272A>G (p.Gly424=) c.840A>G (p.Gly280=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102452079A>T | CA427844023 | IL18RAP | c.1698A>T (p.Gly566=) c.1272A>T (p.Gly424=) c.840A>T (p.Gly280=) | gnomAD v4 |
2 | g.102452080T>A | CA347948627 | IL18RAP | c.1699T>A (p.Phe567Ile) c.1273T>A (p.Phe425Ile) c.841T>A (p.Phe281Ile) | |
2 | g.102452080T>C | CA347948624 | IL18RAP | c.1699T>C (p.Phe567Leu) c.1273T>C (p.Phe425Leu) c.841T>C (p.Phe281Leu) | |
2 | g.102452080T>G | CA347948622 | IL18RAP | c.1699T>G (p.Phe567Val) c.1273T>G (p.Phe425Val) c.841T>G (p.Phe281Val) | |
2 | g.102452081T>A | CA347948630 | IL18RAP | c.1700T>A (p.Phe567Tyr) c.1274T>A (p.Phe425Tyr) c.842T>A (p.Phe281Tyr) | |
2 | g.102452081T>C | CA347948634 | IL18RAP | c.1700T>C (p.Phe567Ser) c.1274T>C (p.Phe425Ser) c.842T>C (p.Phe281Ser) | |
2 | g.102452081T>G | CA347948636 | IL18RAP | c.1700T>G (p.Phe567Cys) c.1274T>G (p.Phe425Cys) c.842T>G (p.Phe281Cys) | |
2 | g.102452082C>A | CA347948641 | IL18RAP | c.1701C>A (p.Phe567Leu) c.1275C>A (p.Phe425Leu) c.843C>A (p.Phe281Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102452082C= | CA1275266907 | IL18RAP | c.1701C= (p.Phe567=) c.1275C= (p.Phe425=) c.843C= (p.Phe281=) | |
2 | g.102452082C>G | CA347948643 | IL18RAP | c.1701C>G (p.Phe567Leu) c.1275C>G (p.Phe425Leu) c.843C>G (p.Phe281Leu) | |
2 | g.102452082C>T | CA1810675 | IL18RAP | c.1701C>T (p.Phe567=) c.1275C>T (p.Phe425=) c.843C>T (p.Phe281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452083A>C | CA347948646 | IL18RAP | c.1702A>C (p.Thr568Pro) c.1276A>C (p.Thr426Pro) c.844A>C (p.Thr282Pro) | |
2 | g.102452083A>G | CA347948650 | IL18RAP | c.1702A>G (p.Thr568Ala) c.1276A>G (p.Thr426Ala) c.844A>G (p.Thr282Ala) | |
2 | g.102452083A>T | CA347948653 | IL18RAP | c.1702A>T (p.Thr568Ser) c.1276A>T (p.Thr426Ser) c.844A>T (p.Thr282Ser) | |
2 | g.102452084C>A | CA347948659 | IL18RAP | c.1703C>A (p.Thr568Lys) c.1277C>A (p.Thr426Lys) c.845C>A (p.Thr282Lys) | gnomAD v4 |
2 | g.102452084C= | CA1275266911 | IL18RAP | c.1703C= (p.Thr568=) c.1277C= (p.Thr426=) c.845C= (p.Thr282=) | |
2 | g.102452084C>G | CA347948660 | IL18RAP | c.1703C>G (p.Thr568Arg) c.1277C>G (p.Thr426Arg) c.845C>G (p.Thr282Arg) | |
2 | g.102452084C>T | CA1810676 | IL18RAP | c.1703C>T (p.Thr568Met) c.1277C>T (p.Thr426Met) c.845C>T (p.Thr282Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452085G>A | CA1810677 | IL18RAP | c.1704G>A (p.Thr568=) c.1278G>A (p.Thr426=) c.846G>A (p.Thr282=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452085G>C | CA427844030 | IL18RAP | c.1704G>C (p.Thr568=) c.1278G>C (p.Thr426=) c.846G>C (p.Thr282=) | |
2 | g.102452085G= | CA1275266913 | IL18RAP | c.1704G= (p.Thr568=) c.1278G= (p.Thr426=) c.846G= (p.Thr282=) | |
2 | g.102452085G>T | CA427844031 | IL18RAP | c.1704G>T (p.Thr568=) c.1278G>T (p.Thr426=) c.846G>T (p.Thr282=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.102452086T>A | CA347948664 | IL18RAP | c.1705T>A (p.Trp569Arg) c.1279T>A (p.Trp427Arg) c.847T>A (p.Trp283Arg) | |
2 | g.102452086T>C | CA347948662 | IL18RAP | c.1705T>C (p.Trp569Arg) c.1279T>C (p.Trp427Arg) c.847T>C (p.Trp283Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102452086T>G | CA347948661 | IL18RAP | c.1705T>G (p.Trp569Gly) c.1279T>G (p.Trp427Gly) c.847T>G (p.Trp283Gly) | |
2 | g.102452086T= | CA1275266917 | IL18RAP | c.1705T= (p.Trp569=) c.1279T= (p.Trp427=) c.847T= (p.Trp283=) | |
2 | g.102452087G>A | CA347948669 | IL18RAP | c.1706G>A (p.Trp569Ter) c.1280G>A (p.Trp427Ter) c.848G>A (p.Trp283Ter) | |
2 | g.102452087G>C | CA347948666 | IL18RAP | c.1706G>C (p.Trp569Ser) c.1280G>C (p.Trp427Ser) c.848G>C (p.Trp283Ser) | |
2 | g.102452087G>T | CA347948667 | IL18RAP | c.1706G>T (p.Trp569Leu) c.1280G>T (p.Trp427Leu) c.848G>T (p.Trp283Leu) | |
2 | g.102452088G>A | CA347948672 | IL18RAP | c.1707G>A (p.Trp569Ter) c.1281G>A (p.Trp427Ter) c.849G>A (p.Trp283Ter) | |
2 | g.102452088G>C | CA1810678 | IL18RAP | c.1707G>C (p.Trp569Cys) c.1281G>C (p.Trp427Cys) c.849G>C (p.Trp283Cys) | dbSNP ExAC |
2 | g.102452088G= | CA1275266921 | IL18RAP | c.1707G= (p.Trp569=) c.1281G= (p.Trp427=) c.849G= (p.Trp283=) | |
2 | g.102452088G>T | CA347948673 | IL18RAP | c.1707G>T (p.Trp569Cys) c.1281G>T (p.Trp427Cys) c.849G>T (p.Trp283Cys) | |
2 | g.102452089A>C | CA347948675 | IL18RAP | c.1708A>C (p.Asn570His) c.1282A>C (p.Asn428His) c.850A>C (p.Asn284His) | |
2 | g.102452089A>G | CA347948676 | IL18RAP | c.1708A>G (p.Asn570Asp) c.1282A>G (p.Asn428Asp) c.850A>G (p.Asn284Asp) | |
2 | g.102452089A>T | CA347948679 | IL18RAP | c.1708A>T (p.Asn570Tyr) c.1282A>T (p.Asn428Tyr) c.850A>T (p.Asn284Tyr) | |
2 | g.102452089_102452090del | CA2660480968 | IL18RAP | c.1708_1709del (p.Asn570ProfsTer7) c.1282_1283del (p.Asn428ProfsTer7) c.850_851del (p.Asn284ProfsTer7) | gnomAD v4 |
2 | g.102452090A= | CA1275266923 | IL18RAP | c.1709A= (p.Asn570=) c.1283A= (p.Asn428=) c.851A= (p.Asn284=) | |
2 | g.102452090A>C | CA347948683 | IL18RAP | c.1709A>C (p.Asn570Thr) c.1283A>C (p.Asn428Thr) c.851A>C (p.Asn284Thr) | |
2 | g.102452090A>G | CA347948685 | IL18RAP | c.1709A>G (p.Asn570Ser) c.1283A>G (p.Asn428Ser) c.851A>G (p.Asn284Ser) | |
2 | g.102452090A>T | CA347948688 | IL18RAP | c.1709A>T (p.Asn570Ile) c.1283A>T (p.Asn428Ile) c.851A>T (p.Asn284Ile) | |
2 | g.102452091C>A | CA347948691 | IL18RAP | c.1710C>A (p.Asn570Lys) c.1284C>A (p.Asn428Lys) c.852C>A (p.Asn284Lys) | dbSNP |
2 | g.102452091C= | CA1275266926 | IL18RAP | c.1710C= (p.Asn570=) c.1284C= (p.Asn428=) c.852C= (p.Asn284=) | |
2 | g.102452091C>G | CA347948693 | IL18RAP | c.1710C>G (p.Asn570Lys) c.1284C>G (p.Asn428Lys) c.852C>G (p.Asn284Lys) | |
2 | g.102452091C>T | CA427844035 | IL18RAP | c.1710C>T (p.Asn570=) c.1284C>T (p.Asn428=) c.852C>T (p.Asn284=) | dbSNP |
2 | g.102452092dup | CA535106272 | IL18RAP | c.1711dup (p.Gln571ProfsTer7) c.1285dup (p.Gln429ProfsTer7) c.853dup (p.Gln285ProfsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102452092C>A | CA347948701 | IL18RAP | c.1711C>A (p.Gln571Lys) c.1285C>A (p.Gln429Lys) c.853C>A (p.Gln285Lys) | |
2 | g.102452092C>G | CA347948697 | IL18RAP | c.1711C>G (p.Gln571Glu) c.1285C>G (p.Gln429Glu) c.853C>G (p.Gln285Glu) | gnomAD v4 |
2 | g.102452092C>T | CA347948699 | IL18RAP | c.1711C>T (p.Gln571Ter) c.1285C>T (p.Gln429Ter) c.853C>T (p.Gln285Ter) | |
2 | g.102452093A>C | CA347948704 | IL18RAP | c.1712A>C (p.Gln571Pro) c.1286A>C (p.Gln429Pro) c.854A>C (p.Gln285Pro) | |
2 | g.102452093A>G | CA347948705 | IL18RAP | c.1712A>G (p.Gln571Arg) c.1286A>G (p.Gln429Arg) c.854A>G (p.Gln285Arg) | COSMIC |
2 | g.102452093A>T | CA347948706 | IL18RAP | c.1712A>T (p.Gln571Leu) c.1286A>T (p.Gln429Leu) c.854A>T (p.Gln285Leu) | |
2 | g.102452094G>A | CA427844039 | IL18RAP | c.1713G>A (p.Gln571=) c.1287G>A (p.Gln429=) c.855G>A (p.Gln285=) | |
2 | g.102452094G>C | CA347948707 | IL18RAP | c.1713G>C (p.Gln571His) c.1287G>C (p.Gln429His) c.855G>C (p.Gln285His) | |
2 | g.102452094G>T | CA347948708 | IL18RAP | c.1713G>T (p.Gln571His) c.1287G>T (p.Gln429His) c.855G>T (p.Gln285His) | |
2 | g.102452095C>A | CA347948709 | IL18RAP | c.1714C>A (p.Leu572Ile) c.1288C>A (p.Leu430Ile) c.856C>A (p.Leu286Ile) | |
2 | g.102452095C>G | CA347948710 | IL18RAP | c.1714C>G (p.Leu572Val) c.1288C>G (p.Leu430Val) c.856C>G (p.Leu286Val) | |
2 | g.102452095C>T | CA347948711 | IL18RAP | c.1714C>T (p.Leu572Phe) c.1288C>T (p.Leu430Phe) c.856C>T (p.Leu286Phe) | gnomAD v4 |
2 | g.102452096T>A | CA347948712 | IL18RAP | c.1715T>A (p.Leu572His) c.1289T>A (p.Leu430His) c.857T>A (p.Leu286His) | COSMIC |
2 | g.102452096T>C | CA347948713 | IL18RAP | c.1715T>C (p.Leu572Pro) c.1289T>C (p.Leu430Pro) c.857T>C (p.Leu286Pro) | |
2 | g.102452096T>G | CA347948714 | IL18RAP | c.1715T>G (p.Leu572Arg) c.1289T>G (p.Leu430Arg) c.857T>G (p.Leu286Arg) | |
2 | g.102452097C>A | CA427844043 | IL18RAP | c.1716C>A (p.Leu572=) c.1290C>A (p.Leu430=) c.858C>A (p.Leu286=) | |
2 | g.102452097C= | CA1275266931 | IL18RAP | c.1716C= (p.Leu572=) c.1290C= (p.Leu430=) c.858C= (p.Leu286=) | |
2 | g.102452097C>G | CA427844042 | IL18RAP | c.1716C>G (p.Leu572=) c.1290C>G (p.Leu430=) c.858C>G (p.Leu286=) | |
2 | g.102452097C>T | CA427844041 | IL18RAP | c.1716C>T (p.Leu572=) c.1290C>T (p.Leu430=) c.858C>T (p.Leu286=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.102452098A>C | CA427844045 | IL18RAP | c.1717A>C (p.Arg573=) c.1291A>C (p.Arg431=) c.859A>C (p.Arg287=) | |
2 | g.102452098A>G | CA347948715 | IL18RAP | c.1717A>G (p.Arg573Gly) c.1291A>G (p.Arg431Gly) c.859A>G (p.Arg287Gly) | |
2 | g.102452098A>T | CA347948716 | IL18RAP | c.1717A>T (p.Arg573Ter) c.1291A>T (p.Arg431Ter) c.859A>T (p.Arg287Ter) | |
2 | g.102452099G>A | CA347948718 | IL18RAP | c.1718G>A (p.Arg573Lys) c.1292G>A (p.Arg431Lys) c.860G>A (p.Arg287Lys) | |
2 | g.102452099G>C | CA347948719 | IL18RAP | c.1718G>C (p.Arg573Thr) c.1292G>C (p.Arg431Thr) c.860G>C (p.Arg287Thr) | |
2 | g.102452099G>T | CA347948717 | IL18RAP | c.1718G>T (p.Arg573Ile) c.1292G>T (p.Arg431Ile) c.860G>T (p.Arg287Ile) | |
2 | g.102452100A>C | CA347948720 | IL18RAP | c.1719A>C (p.Arg573Ser) c.1293A>C (p.Arg431Ser) c.861A>C (p.Arg287Ser) | |
2 | g.102452100A>G | CA427842964 | IL18RAP | c.1719A>G (p.Arg573=) c.1293A>G (p.Arg431=) c.861A>G (p.Arg287=) | |
2 | g.102452100A>T | CA347948721 | IL18RAP | c.1719A>T (p.Arg573Ser) c.1293A>T (p.Arg431Ser) c.861A>T (p.Arg287Ser) | gnomAD v4 |
2 | g.102452101A>C | CA347948722 | IL18RAP | c.1720A>C (p.Ile574Leu) c.1294A>C (p.Ile432Leu) c.862A>C (p.Ile288Leu) | |
2 | g.102452101A>G | CA347948723 | IL18RAP | c.1720A>G (p.Ile574Val) c.1294A>G (p.Ile432Val) c.862A>G (p.Ile288Val) | |
2 | g.102452101A>T | CA347948724 | IL18RAP | c.1720A>T (p.Ile574Phe) c.1294A>T (p.Ile432Phe) c.862A>T (p.Ile288Phe) | |
2 | g.102452102T>A | CA347948725 | IL18RAP | c.1721T>A (p.Ile574Asn) c.1295T>A (p.Ile432Asn) c.863T>A (p.Ile288Asn) | |
2 | g.102452102T>C | CA347948726 | IL18RAP | c.1721T>C (p.Ile574Thr) c.1295T>C (p.Ile432Thr) c.863T>C (p.Ile288Thr) | |
2 | g.102452102T>G | CA347948727 | IL18RAP | c.1721T>G (p.Ile574Ser) c.1295T>G (p.Ile432Ser) c.863T>G (p.Ile288Ser) | |
2 | g.102452103T>A | CA427842965 | IL18RAP | c.1722T>A (p.Ile574=) c.1296T>A (p.Ile432=) c.864T>A (p.Ile288=) | |
2 | g.102452103T>C | CA427842966 | IL18RAP | c.1722T>C (p.Ile574=) c.1296T>C (p.Ile432=) c.864T>C (p.Ile288=) | |
2 | g.102452103T>G | CA347948728 | IL18RAP | c.1722T>G (p.Ile574Met) c.1296T>G (p.Ile432Met) c.864T>G (p.Ile288Met) | |
2 | g.102452104A= | CA1275266936 | IL18RAP | c.1723A= (p.Thr575=) c.1297A= (p.Thr433=) c.865A= (p.Thr289=) | |
2 | g.102452104A>C | CA347948729 | IL18RAP | c.1723A>C (p.Thr575Pro) c.1297A>C (p.Thr433Pro) c.865A>C (p.Thr289Pro) | |
2 | g.102452104A>G | CA347948730 | IL18RAP | c.1723A>G (p.Thr575Ala) c.1297A>G (p.Thr433Ala) c.865A>G (p.Thr289Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.102452104A>T | CA347948731 | IL18RAP | c.1723A>T (p.Thr575Ser) c.1297A>T (p.Thr433Ser) c.865A>T (p.Thr289Ser) | |
2 | g.102452105C>A | CA347948732 | IL18RAP | c.1724C>A (p.Thr575Asn) c.1298C>A (p.Thr433Asn) c.866C>A (p.Thr289Asn) | |
2 | g.102452105C= | CA1275266939 | IL18RAP | c.1724C= (p.Thr575=) c.1298C= (p.Thr433=) c.866C= (p.Thr289=) | |
2 | g.102452105C>G | CA347948733 | IL18RAP | c.1724C>G (p.Thr575Ser) c.1298C>G (p.Thr433Ser) c.866C>G (p.Thr289Ser) | |
2 | g.102452105C>T | CA1810679 | IL18RAP | c.1724C>T (p.Thr575Ile) c.1298C>T (p.Thr433Ile) c.866C>T (p.Thr289Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.102452106C>A | CA427842969 | IL18RAP | c.1725C>A (p.Thr575=) c.1299C>A (p.Thr433=) c.867C>A (p.Thr289=) | |
2 | g.102452106C>G | CA427842970 | IL18RAP | c.1725C>G (p.Thr575=) c.1299C>G (p.Thr433=) c.867C>G (p.Thr289=) | |
2 | g.102452106C>T | CA427842971 | IL18RAP | c.1725C>T (p.Thr575=) c.1299C>T (p.Thr433=) c.867C>T (p.Thr289=) | gnomAD v4 |
2 | g.102452107T>A | CA347948734 | IL18RAP | c.1726T>A (p.Ser576Thr) c.1300T>A (p.Ser434Thr) c.868T>A (p.Ser290Thr) | |
2 | g.102452107T>C | CA347948736 | IL18RAP | c.1726T>C (p.Ser576Pro) c.1300T>C (p.Ser434Pro) c.868T>C (p.Ser290Pro) | |
2 | g.102452107T>G | CA347948735 | IL18RAP | c.1726T>G (p.Ser576Ala) c.1300T>G (p.Ser434Ala) c.868T>G (p.Ser290Ala) | dbSNP gnomAD v4 |
2 | g.102452107T= | CA1275266943 | IL18RAP | c.1726T= (p.Ser576=) c.1300T= (p.Ser434=) c.868T= (p.Ser290=) | |
2 | g.102452108C>A | CA347948737 | IL18RAP | c.1727C>A (p.Ser576Tyr) c.1301C>A (p.Ser434Tyr) c.869C>A (p.Ser290Tyr) | |
2 | g.102452108C>G | CA347948738 | IL18RAP | c.1727C>G (p.Ser576Cys) c.1301C>G (p.Ser434Cys) c.869C>G (p.Ser290Cys) | gnomAD v4 |
2 | g.102452108C>T | CA347948739 | IL18RAP | c.1727C>T (p.Ser576Phe) c.1301C>T (p.Ser434Phe) c.869C>T (p.Ser290Phe) | gnomAD v4 |
2 | g.102452109T>A | CA427842972 | IL18RAP | c.1728T>A (p.Ser576=) c.1302T>A (p.Ser434=) c.870T>A (p.Ser290=) | dbSNP |
2 | g.102452109T>C | CA427842973 | IL18RAP | c.1728T>C (p.Ser576=) c.1302T>C (p.Ser434=) c.870T>C (p.Ser290=) | |
2 | g.102452109T>G | CA427842974 | IL18RAP | c.1728T>G (p.Ser576=) c.1302T>G (p.Ser434=) c.870T>G (p.Ser290=) | gnomAD v4 |
2 | g.102452110A>C | CA427842975 | IL18RAP | c.1729A>C (p.Arg577=) c.1303A>C (p.Arg435=) c.871A>C (p.Arg291=) | |
2 | g.102452110A>G | CA347948740 | IL18RAP | c.1729A>G (p.Arg577Gly) c.1303A>G (p.Arg435Gly) c.871A>G (p.Arg291Gly) | |
2 | g.102452110A>T | CA347948741 | IL18RAP | c.1729A>T (p.Arg577Trp) c.1303A>T (p.Arg435Trp) c.871A>T (p.Arg291Trp) |