Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.102452127_102452131dupCA535007526IL18RAPc.1746_1750dup (p.Leu584GlnfsTer?)
c.1320_1324dup (p.Leu442GlnfsTer?)
c.888_892dup (p.Leu298GlnfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.102452130A>CCA427842982IL18RAPc.1749A>C (p.Gly583=)
c.1323A>C (p.Gly441=)
c.891A>C (p.Gly297=)
2g.102452130A>GCA427842983IL18RAPc.1749A>G (p.Gly583=)
c.1323A>G (p.Gly441=)
c.891A>G (p.Gly297=)
 gnomAD v4
2g.102452130A>TCA427842984IL18RAPc.1749A>T (p.Gly583=)
c.1323A>T (p.Gly441=)
c.891A>T (p.Gly297=)
2g.102452131C>ACA347948791IL18RAPc.1750C>A (p.Leu584Ile)
c.1324C>A (p.Leu442Ile)
c.892C>A (p.Leu298Ile)
2g.102452131C>GCA347948792IL18RAPc.1750C>G (p.Leu584Val)
c.1324C>G (p.Leu442Val)
c.892C>G (p.Leu298Val)
2g.102452131C>TCA347948793IL18RAPc.1750C>T (p.Leu584Phe)
c.1324C>T (p.Leu442Phe)
c.892C>T (p.Leu298Phe)
 dbSNP
2g.102452132T>ACA347948794IL18RAPc.1751T>A (p.Leu584His)
c.1325T>A (p.Leu442His)
c.893T>A (p.Leu298His)
2g.102452132T>CCA347948795IL18RAPc.1751T>C (p.Leu584Pro)
c.1325T>C (p.Leu442Pro)
c.893T>C (p.Leu298Pro)
 gnomAD v4
2g.102452132T>GCA347948796IL18RAPc.1751T>G (p.Leu584Arg)
c.1325T>G (p.Leu442Arg)
c.893T>G (p.Leu298Arg)
2g.102452133C>ACA427842985IL18RAPc.1752C>A (p.Leu584=)
c.1326C>A (p.Leu442=)
c.894C>A (p.Leu298=)
2g.102452133C=CA1275266974IL18RAPc.1752C= (p.Leu584=)
c.1326C= (p.Leu442=)
c.894C= (p.Leu298=)
2g.102452133C>GCA427842986IL18RAPc.1752C>G (p.Leu584=)
c.1326C>G (p.Leu442=)
c.894C>G (p.Leu298=)
2g.102452133C>TCA427842987IL18RAPc.1752C>T (p.Leu584=)
c.1326C>T (p.Leu442=)
c.894C>T (p.Leu298=)
 dbSNP gnomAD v4
2g.102452134A>CCA347948797IL18RAPc.1753A>C (p.Ser585Arg)
c.1327A>C (p.Ser443Arg)
c.895A>C (p.Ser299Arg)
2g.102452134A>GCA347948799IL18RAPc.1753A>G (p.Ser585Gly)
c.1327A>G (p.Ser443Gly)
c.895A>G (p.Ser299Gly)
2g.102452134A>TCA347948798IL18RAPc.1753A>T (p.Ser585Cys)
c.1327A>T (p.Ser443Cys)
c.895A>T (p.Ser299Cys)
2g.102452135G>ACA347948800IL18RAPc.1754G>A (p.Ser585Asn)
c.1328G>A (p.Ser443Asn)
c.896G>A (p.Ser299Asn)
2g.102452135G>CCA347948801IL18RAPc.1754G>C (p.Ser585Thr)
c.1328G>C (p.Ser443Thr)
c.896G>C (p.Ser299Thr)
2g.102452135G>TCA347948802IL18RAPc.1754G>T (p.Ser585Ile)
c.1328G>T (p.Ser443Ile)
c.896G>T (p.Ser299Ile)
2g.102452136T>ACA347948803IL18RAPc.1755T>A (p.Ser585Arg)
c.1329T>A (p.Ser443Arg)
c.897T>A (p.Ser299Arg)
2g.102452136T>CCA427842988IL18RAPc.1755T>C (p.Ser585=)
c.1329T>C (p.Ser443=)
c.897T>C (p.Ser299=)
 gnomAD v4
2g.102452136T>GCA347948804IL18RAPc.1755T>G (p.Ser585Arg)
c.1329T>G (p.Ser443Arg)
c.897T>G (p.Ser299Arg)
2g.102452137A>CCA427842989IL18RAPc.1756A>C (p.Arg586=)
c.1330A>C (p.Arg444=)
c.898A>C (p.Arg300=)
2g.102452137A>GCA347948805IL18RAPc.1756A>G (p.Arg586Gly)
c.1330A>G (p.Arg444Gly)
c.898A>G (p.Arg300Gly)
 gnomAD v4
2g.102452137A>TCA347948806IL18RAPc.1756A>T (p.Arg586Ter)
c.1330A>T (p.Arg444Ter)
c.898A>T (p.Arg300Ter)
2g.102452138G>ACA347948807IL18RAPc.1757G>A (p.Arg586Lys)
c.1331G>A (p.Arg444Lys)
c.899G>A (p.Arg300Lys)
2g.102452138G>CCA347948808IL18RAPc.1757G>C (p.Arg586Thr)
c.1331G>C (p.Arg444Thr)
c.899G>C (p.Arg300Thr)
2g.102452138G>TCA347948809IL18RAPc.1757G>T (p.Arg586Ile)
c.1331G>T (p.Arg444Ile)
c.899G>T (p.Arg300Ile)
2g.102452139A=CA1275266977IL18RAPc.1758A= (p.Arg586=)
c.1332A= (p.Arg444=)
c.900A= (p.Arg300=)
2g.102452139A>CCA347948811IL18RAPc.1758A>C (p.Arg586Ser)
c.1332A>C (p.Arg444Ser)
c.900A>C (p.Arg300Ser)
 dbSNP gnomAD v4
2g.102452139A>GCA427842990IL18RAPc.1758A>G (p.Arg586=)
c.1332A>G (p.Arg444=)
c.900A>G (p.Arg300=)
2g.102452139A>TCA347948810IL18RAPc.1758A>T (p.Arg586Ser)
c.1332A>T (p.Arg444Ser)
c.900A>T (p.Arg300Ser)
2g.102452140A>CCA347948812IL18RAPc.1759A>C (p.Thr587Pro)
c.1333A>C (p.Thr445Pro)
c.901A>C (p.Thr301Pro)
2g.102452140A>GCA347948813IL18RAPc.1759A>G (p.Thr587Ala)
c.1333A>G (p.Thr445Ala)
c.901A>G (p.Thr301Ala)
 gnomAD v4
2g.102452140A>TCA347948814IL18RAPc.1759A>T (p.Thr587Ser)
c.1333A>T (p.Thr445Ser)
c.901A>T (p.Thr301Ser)
2g.102452141C>ACA347948815IL18RAPc.1760C>A (p.Thr587Lys)
c.1334C>A (p.Thr445Lys)
c.902C>A (p.Thr301Lys)
 dbSNP
2g.102452141C=CA1275266980IL18RAPc.1760C= (p.Thr587=)
c.1334C= (p.Thr445=)
c.902C= (p.Thr301=)
2g.102452141C>GCA347948817IL18RAPc.1760C>G (p.Thr587Arg)
c.1334C>G (p.Thr445Arg)
c.902C>G (p.Thr301Arg)
 COSMIC
2g.102452141C>TCA347948819IL18RAPc.1760C>T (p.Thr587Ile)
c.1334C>T (p.Thr445Ile)
c.902C>T (p.Thr301Ile)
2g.102452142A>CCA427842993IL18RAPc.1761A>C (p.Thr587=)
c.1335A>C (p.Thr445=)
c.903A>C (p.Thr301=)
2g.102452142A>GCA427842992IL18RAPc.1761A>G (p.Thr587=)
c.1335A>G (p.Thr445=)
c.903A>G (p.Thr301=)
2g.102452142A>TCA427842991IL18RAPc.1761A>T (p.Thr587=)
c.1335A>T (p.Thr445=)
c.903A>T (p.Thr301=)
2g.102452143G>ACA347948821IL18RAPc.1762G>A (p.Glu588Lys)
c.1336G>A (p.Glu446Lys)
c.904G>A (p.Glu302Lys)
2g.102452143G>CCA347948822IL18RAPc.1762G>C (p.Glu588Gln)
c.1336G>C (p.Glu446Gln)
c.904G>C (p.Glu302Gln)
2g.102452143G=CA1275266982IL18RAPc.1762G= (p.Glu588=)
c.1336G= (p.Glu446=)
c.904G= (p.Glu302=)
2g.102452143G>TCA52936298IL18RAPc.1762G>T (p.Glu588Ter)
c.1336G>T (p.Glu446Ter)
c.904G>T (p.Glu302Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.102452143_102452144delinsGACA1275266983IL18RAPc.1762_1763delinsGA (p.Glu588=)
c.1336_1337delinsGA (p.Glu446=)
c.904_905delinsGA (p.Glu302=)
2g.102452144A>CCA347948827IL18RAPc.1763A>C (p.Glu588Ala)
c.1337A>C (p.Glu446Ala)
c.905A>C (p.Glu302Ala)
2g.102452144A>GCA347948829IL18RAPc.1763A>G (p.Glu588Gly)
c.1337A>G (p.Glu446Gly)
c.905A>G (p.Glu302Gly)

Number of alleles fetched