Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27362445T>ACA395297581IL4Rc.1093T>A (p.Phe365Ile)
c.1048T>A (p.Phe350Ile)
c.229+1652T>A (n.229+1652T>A)
n.503T>A
c.*1136T>A (n.*1136T>A)
c.613T>A (p.Phe205Ile)
c.202T>A (p.Phe68Ile)
c.142T>A (p.Phe48Ile)
c.826T>A (p.Phe276Ile)
c.796T>A (p.Phe266Ile)
c.670T>A (p.Phe224Ile)
c.*128T>A (n.*128T>A)
16g.27362445T>CCA395297583IL4Rc.1093T>C (p.Phe365Leu)
c.1048T>C (p.Phe350Leu)
c.229+1652T>C (n.229+1652T>C)
n.503T>C
c.*1136T>C (n.*1136T>C)
c.613T>C (p.Phe205Leu)
c.202T>C (p.Phe68Leu)
c.142T>C (p.Phe48Leu)
c.826T>C (p.Phe276Leu)
c.796T>C (p.Phe266Leu)
c.670T>C (p.Phe224Leu)
c.*128T>C (n.*128T>C)
16g.27362445T>GCA395297586IL4Rc.1093T>G (p.Phe365Val)
c.1048T>G (p.Phe350Val)
c.229+1652T>G (n.229+1652T>G)
n.503T>G
c.*1136T>G (n.*1136T>G)
c.613T>G (p.Phe205Val)
c.202T>G (p.Phe68Val)
c.142T>G (p.Phe48Val)
c.826T>G (p.Phe276Val)
c.796T>G (p.Phe266Val)
c.670T>G (p.Phe224Val)
c.*128T>G (n.*128T>G)
16g.27362446T>ACA395297592IL4Rc.1094T>A (p.Phe365Tyr)
c.1049T>A (p.Phe350Tyr)
c.229+1653T>A (n.229+1653T>A)
n.504T>A
c.*1137T>A (n.*1137T>A)
c.614T>A (p.Phe205Tyr)
c.203T>A (p.Phe68Tyr)
c.143T>A (p.Phe48Tyr)
c.827T>A (p.Phe276Tyr)
c.797T>A (p.Phe266Tyr)
c.671T>A (p.Phe224Tyr)
c.*129T>A (n.*129T>A)
16g.27362446T>CCA395297588IL4Rc.1094T>C (p.Phe365Ser)
c.1049T>C (p.Phe350Ser)
c.229+1653T>C (n.229+1653T>C)
n.504T>C
c.*1137T>C (n.*1137T>C)
c.614T>C (p.Phe205Ser)
c.203T>C (p.Phe68Ser)
c.143T>C (p.Phe48Ser)
c.827T>C (p.Phe276Ser)
c.797T>C (p.Phe266Ser)
c.671T>C (p.Phe224Ser)
c.*129T>C (n.*129T>C)
 gnomAD v4
16g.27362446T>GCA395297590IL4Rc.1094T>G (p.Phe365Cys)
c.1049T>G (p.Phe350Cys)
c.229+1653T>G (n.229+1653T>G)
n.504T>G
c.*1137T>G (n.*1137T>G)
c.614T>G (p.Phe205Cys)
c.203T>G (p.Phe68Cys)
c.143T>G (p.Phe48Cys)
c.827T>G (p.Phe276Cys)
c.797T>G (p.Phe266Cys)
c.671T>G (p.Phe224Cys)
c.*129T>G (n.*129T>G)
16g.27362447T>ACA395297595IL4Rc.1095T>A (p.Phe365Leu)
c.1050T>A (p.Phe350Leu)
c.229+1654T>A (n.229+1654T>A)
n.505T>A
c.*1138T>A (n.*1138T>A)
c.615T>A (p.Phe205Leu)
c.204T>A (p.Phe68Leu)
c.144T>A (p.Phe48Leu)
c.828T>A (p.Phe276Leu)
c.798T>A (p.Phe266Leu)
c.672T>A (p.Phe224Leu)
c.*130T>A (n.*130T>A)
16g.27362447T>CCA494470707IL4Rc.1095T>C (p.Phe365=)
c.1050T>C (p.Phe350=)
c.229+1654T>C (n.229+1654T>C)
n.505T>C
c.*1138T>C (n.*1138T>C)
c.615T>C (p.Phe205=)
c.204T>C (p.Phe68=)
c.144T>C (p.Phe48=)
c.828T>C (p.Phe276=)
c.798T>C (p.Phe266=)
c.672T>C (p.Phe224=)
c.*130T>C (n.*130T>C)
 gnomAD v4
16g.27362447T>GCA395297597IL4Rc.1095T>G (p.Phe365Leu)
c.1050T>G (p.Phe350Leu)
c.229+1654T>G (n.229+1654T>G)
n.505T>G
c.*1138T>G (n.*1138T>G)
c.615T>G (p.Phe205Leu)
c.204T>G (p.Phe68Leu)
c.144T>G (p.Phe48Leu)
c.828T>G (p.Phe276Leu)
c.798T>G (p.Phe266Leu)
c.672T>G (p.Phe224Leu)
c.*130T>G (n.*130T>G)
16g.27362448G>ACA395297600IL4Rc.1096G>A (p.Glu366Lys)
c.1051G>A (p.Glu351Lys)
c.230-1655G>A (n.230-1655G>A)
n.506G>A
c.*1139G>A (n.*1139G>A)
c.616G>A (p.Glu206Lys)
c.205G>A (p.Glu69Lys)
c.145G>A (p.Glu49Lys)
c.829G>A (p.Glu277Lys)
c.799G>A (p.Glu267Lys)
c.673G>A (p.Glu225Lys)
c.*131G>A (n.*131G>A)
 gnomAD v4
16g.27362448G>CCA395297601IL4Rc.1096G>C (p.Glu366Gln)
c.1051G>C (p.Glu351Gln)
c.230-1655G>C (n.230-1655G>C)
n.506G>C
c.*1139G>C (n.*1139G>C)
c.616G>C (p.Glu206Gln)
c.205G>C (p.Glu69Gln)
c.145G>C (p.Glu49Gln)
c.829G>C (p.Glu277Gln)
c.799G>C (p.Glu267Gln)
c.673G>C (p.Glu225Gln)
c.*131G>C (n.*131G>C)
16g.27362448G>TCA395297605IL4Rc.1096G>T (p.Glu366Ter)
c.1051G>T (p.Glu351Ter)
c.230-1655G>T (n.230-1655G>T)
n.506G>T
c.*1139G>T (n.*1139G>T)
c.616G>T (p.Glu206Ter)
c.205G>T (p.Glu69Ter)
c.145G>T (p.Glu49Ter)
c.829G>T (p.Glu277Ter)
c.799G>T (p.Glu267Ter)
c.673G>T (p.Glu225Ter)
c.*131G>T (n.*131G>T)
16g.27362449A>CCA395297608IL4Rc.1097A>C (p.Glu366Ala)
c.1052A>C (p.Glu351Ala)
c.230-1654A>C (n.230-1654A>C)
n.507A>C
c.*1140A>C (n.*1140A>C)
c.617A>C (p.Glu206Ala)
c.206A>C (p.Glu69Ala)
c.146A>C (p.Glu49Ala)
c.830A>C (p.Glu277Ala)
c.800A>C (p.Glu267Ala)
c.674A>C (p.Glu225Ala)
c.*132A>C (n.*132A>C)
16g.27362449A>GCA395297612IL4Rc.1097A>G (p.Glu366Gly)
c.1052A>G (p.Glu351Gly)
c.230-1654A>G (n.230-1654A>G)
n.507A>G
c.*1140A>G (n.*1140A>G)
c.617A>G (p.Glu206Gly)
c.206A>G (p.Glu69Gly)
c.146A>G (p.Glu49Gly)
c.830A>G (p.Glu277Gly)
c.800A>G (p.Glu267Gly)
c.674A>G (p.Glu225Gly)
c.*132A>G (n.*132A>G)
 gnomAD v4
16g.27362449A>TCA395297610IL4Rc.1097A>T (p.Glu366Val)
c.1052A>T (p.Glu351Val)
c.230-1654A>T (n.230-1654A>T)
n.507A>T
c.*1140A>T (n.*1140A>T)
c.617A>T (p.Glu206Val)
c.206A>T (p.Glu69Val)
c.146A>T (p.Glu49Val)
c.830A>T (p.Glu277Val)
c.800A>T (p.Glu267Val)
c.674A>T (p.Glu225Val)
c.*132A>T (n.*132A>T)
16g.27362450G>ACA494470714IL4Rc.1098G>A (p.Glu366=)
c.1053G>A (p.Glu351=)
c.230-1653G>A (n.230-1653G>A)
n.508G>A
c.*1141G>A (n.*1141G>A)
c.618G>A (p.Glu206=)
c.207G>A (p.Glu69=)
c.147G>A (p.Glu49=)
c.831G>A (p.Glu277=)
c.801G>A (p.Glu267=)
c.675G>A (p.Glu225=)
c.*133G>A (n.*133G>A)
 dbSNP
16g.27362450G>CCA7974488IL4Rc.1098G>C (p.Glu366Asp)
c.1053G>C (p.Glu351Asp)
c.230-1653G>C (n.230-1653G>C)
n.508G>C
c.*1141G>C (n.*1141G>C)
c.618G>C (p.Glu206Asp)
c.207G>C (p.Glu69Asp)
c.147G>C (p.Glu49Asp)
c.831G>C (p.Glu277Asp)
c.801G>C (p.Glu267Asp)
c.675G>C (p.Glu225Asp)
c.*133G>C (n.*133G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362450G=CA2215169383IL4Rc.1098G= (p.Glu366=)
c.1053G= (p.Glu351=)
c.230-1653G= (n.230-1653G=)
n.508G=
c.*1141G= (n.*1141G=)
c.618G= (p.Glu206=)
c.207G= (p.Glu69=)
c.147G= (p.Glu49=)
c.831G= (p.Glu277=)
c.801G= (p.Glu267=)
c.675G= (p.Glu225=)
c.*133G= (n.*133G=)
16g.27362450G>TCA395297616IL4Rc.1098G>T (p.Glu366Asp)
c.1053G>T (p.Glu351Asp)
c.230-1653G>T (n.230-1653G>T)
n.508G>T
c.*1141G>T (n.*1141G>T)
c.618G>T (p.Glu206Asp)
c.207G>T (p.Glu69Asp)
c.147G>T (p.Glu49Asp)
c.831G>T (p.Glu277Asp)
c.801G>T (p.Glu267Asp)
c.675G>T (p.Glu225Asp)
c.*133G>T (n.*133G>T)
16g.27362451G>ACA395297619IL4Rc.1099G>A (p.Ala367Thr)
c.1054G>A (p.Ala352Thr)
c.230-1652G>A (n.230-1652G>A)
n.509G>A
c.*1142G>A (n.*1142G>A)
c.619G>A (p.Ala207Thr)
c.208G>A (p.Ala70Thr)
c.148G>A (p.Ala50Thr)
c.832G>A (p.Ala278Thr)
c.802G>A (p.Ala268Thr)
c.676G>A (p.Ala226Thr)
c.*134G>A (n.*134G>A)
 gnomAD v4
16g.27362451G>CCA395297621IL4Rc.1099G>C (p.Ala367Pro)
c.1054G>C (p.Ala352Pro)
c.230-1652G>C (n.230-1652G>C)
n.509G>C
c.*1142G>C (n.*1142G>C)
c.619G>C (p.Ala207Pro)
c.208G>C (p.Ala70Pro)
c.148G>C (p.Ala50Pro)
c.832G>C (p.Ala278Pro)
c.802G>C (p.Ala268Pro)
c.676G>C (p.Ala226Pro)
c.*134G>C (n.*134G>C)
16g.27362451G=CA2215169384IL4Rc.1099G= (p.Ala367=)
c.1054G= (p.Ala352=)
c.230-1652G= (n.230-1652G=)
n.509G=
c.*1142G= (n.*1142G=)
c.619G= (p.Ala207=)
c.208G= (p.Ala70=)
c.148G= (p.Ala50=)
c.832G= (p.Ala278=)
c.802G= (p.Ala268=)
c.676G= (p.Ala226=)
c.*134G= (n.*134G=)
16g.27362451G>TCA395297623IL4Rc.1099G>T (p.Ala367Ser)
c.1054G>T (p.Ala352Ser)
c.230-1652G>T (n.230-1652G>T)
n.509G>T
c.*1142G>T (n.*1142G>T)
c.619G>T (p.Ala207Ser)
c.208G>T (p.Ala70Ser)
c.148G>T (p.Ala50Ser)
c.832G>T (p.Ala278Ser)
c.802G>T (p.Ala268Ser)
c.676G>T (p.Ala226Ser)
c.*134G>T (n.*134G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.27362452C>ACA7974489IL4Rc.1100C>A (p.Ala367Asp)
c.1055C>A (p.Ala352Asp)
c.230-1651C>A (n.230-1651C>A)
n.510C>A
c.*1143C>A (n.*1143C>A)
c.620C>A (p.Ala207Asp)
c.209C>A (p.Ala70Asp)
c.149C>A (p.Ala50Asp)
c.833C>A (p.Ala278Asp)
c.803C>A (p.Ala268Asp)
c.677C>A (p.Ala226Asp)
c.*135C>A (n.*135C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362452C=CA2215169389IL4Rc.1100C= (p.Ala367=)
c.1055C= (p.Ala352=)
c.230-1651C= (n.230-1651C=)
n.510C=
c.*1143C= (n.*1143C=)
c.620C= (p.Ala207=)
c.209C= (p.Ala70=)
c.149C= (p.Ala50=)
c.833C= (p.Ala278=)
c.803C= (p.Ala268=)
c.677C= (p.Ala226=)
c.*135C= (n.*135C=)
16g.27362452C>GCA395297626IL4Rc.1100C>G (p.Ala367Gly)
c.1055C>G (p.Ala352Gly)
c.230-1651C>G (n.230-1651C>G)
n.510C>G
c.*1143C>G (n.*1143C>G)
c.620C>G (p.Ala207Gly)
c.209C>G (p.Ala70Gly)
c.149C>G (p.Ala50Gly)
c.833C>G (p.Ala278Gly)
c.803C>G (p.Ala268Gly)
c.677C>G (p.Ala226Gly)
c.*135C>G (n.*135C>G)
 dbSNP
16g.27362452C>TCA395297628IL4Rc.1100C>T (p.Ala367Val)
c.1055C>T (p.Ala352Val)
c.230-1651C>T (n.230-1651C>T)
n.510C>T
c.*1143C>T (n.*1143C>T)
c.620C>T (p.Ala207Val)
c.209C>T (p.Ala70Val)
c.149C>T (p.Ala50Val)
c.833C>T (p.Ala278Val)
c.803C>T (p.Ala268Val)
c.677C>T (p.Ala226Val)
c.*135C>T (n.*135C>T)
 gnomAD v4 COSMIC
16g.27362453C>ACA494470728IL4Rc.1101C>A (p.Ala367=)
c.1056C>A (p.Ala352=)
c.230-1650C>A (n.230-1650C>A)
n.511C>A
c.*1144C>A (n.*1144C>A)
c.621C>A (p.Ala207=)
c.210C>A (p.Ala70=)
c.150C>A (p.Ala50=)
c.834C>A (p.Ala278=)
c.804C>A (p.Ala268=)
c.678C>A (p.Ala226=)
c.*136C>A (n.*136C>A)
16g.27362453C=CA2215169391IL4Rc.1101C= (p.Ala367=)
c.1056C= (p.Ala352=)
c.230-1650C= (n.230-1650C=)
n.511C=
c.*1144C= (n.*1144C=)
c.621C= (p.Ala207=)
c.210C= (p.Ala70=)
c.150C= (p.Ala50=)
c.834C= (p.Ala278=)
c.804C= (p.Ala268=)
c.678C= (p.Ala226=)
c.*136C= (n.*136C=)
16g.27362453C>GCA494470730IL4Rc.1101C>G (p.Ala367=)
c.1056C>G (p.Ala352=)
c.230-1650C>G (n.230-1650C>G)
n.511C>G
c.*1144C>G (n.*1144C>G)
c.621C>G (p.Ala207=)
c.210C>G (p.Ala70=)
c.150C>G (p.Ala50=)
c.834C>G (p.Ala278=)
c.804C>G (p.Ala268=)
c.678C>G (p.Ala226=)
c.*136C>G (n.*136C>G)
 dbSNP gnomAD v4
16g.27362453C>TCA494470726IL4Rc.1101C>T (p.Ala367=)
c.1056C>T (p.Ala352=)
c.230-1650C>T (n.230-1650C>T)
n.511C>T
c.*1144C>T (n.*1144C>T)
c.621C>T (p.Ala207=)
c.210C>T (p.Ala70=)
c.150C>T (p.Ala50=)
c.834C>T (p.Ala278=)
c.804C>T (p.Ala268=)
c.678C>T (p.Ala226=)
c.*136C>T (n.*136C>T)
 gnomAD v4
16g.27362454C>ACA395297631IL4Rc.1102C>A (p.Pro368Thr)
c.1057C>A (p.Pro353Thr)
c.230-1649C>A (n.230-1649C>A)
n.512C>A
c.*1145C>A (n.*1145C>A)
c.622C>A (p.Pro208Thr)
c.211C>A (p.Pro71Thr)
c.151C>A (p.Pro51Thr)
c.835C>A (p.Pro279Thr)
c.805C>A (p.Pro269Thr)
c.679C>A (p.Pro227Thr)
c.*137C>A (n.*137C>A)
16g.27362454C=CA2215169392IL4Rc.1102C= (p.Pro368=)
c.1057C= (p.Pro353=)
c.230-1649C= (n.230-1649C=)
n.512C=
c.*1145C= (n.*1145C=)
c.622C= (p.Pro208=)
c.211C= (p.Pro71=)
c.151C= (p.Pro51=)
c.835C= (p.Pro279=)
c.805C= (p.Pro269=)
c.679C= (p.Pro227=)
c.*137C= (n.*137C=)
16g.27362454C>GCA395297633IL4Rc.1102C>G (p.Pro368Ala)
c.1057C>G (p.Pro353Ala)
c.230-1649C>G (n.230-1649C>G)
n.512C>G
c.*1145C>G (n.*1145C>G)
c.622C>G (p.Pro208Ala)
c.211C>G (p.Pro71Ala)
c.151C>G (p.Pro51Ala)
c.835C>G (p.Pro279Ala)
c.805C>G (p.Pro269Ala)
c.679C>G (p.Pro227Ala)
c.*137C>G (n.*137C>G)
 dbSNP
16g.27362454C>TCA395297636IL4Rc.1102C>T (p.Pro368Ser)
c.1057C>T (p.Pro353Ser)
c.230-1649C>T (n.230-1649C>T)
n.512C>T
c.*1145C>T (n.*1145C>T)
c.622C>T (p.Pro208Ser)
c.211C>T (p.Pro71Ser)
c.151C>T (p.Pro51Ser)
c.835C>T (p.Pro279Ser)
c.805C>T (p.Pro269Ser)
c.679C>T (p.Pro227Ser)
c.*137C>T (n.*137C>T)
16g.27362455C>ACA7974490IL4Rc.1103C>A (p.Pro368Gln)
c.1058C>A (p.Pro353Gln)
c.230-1648C>A (n.230-1648C>A)
n.513C>A
c.*1146C>A (n.*1146C>A)
c.623C>A (p.Pro208Gln)
c.212C>A (p.Pro71Gln)
c.152C>A (p.Pro51Gln)
c.836C>A (p.Pro279Gln)
c.806C>A (p.Pro269Gln)
c.680C>A (p.Pro227Gln)
c.*138C>A (n.*138C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362455C=CA2215169393IL4Rc.1103C= (p.Pro368=)
c.1058C= (p.Pro353=)
c.230-1648C= (n.230-1648C=)
n.513C=
c.*1146C= (n.*1146C=)
c.623C= (p.Pro208=)
c.212C= (p.Pro71=)
c.152C= (p.Pro51=)
c.836C= (p.Pro279=)
c.806C= (p.Pro269=)
c.680C= (p.Pro227=)
c.*138C= (n.*138C=)
16g.27362455C>GCA395297641IL4Rc.1103C>G (p.Pro368Arg)
c.1058C>G (p.Pro353Arg)
c.230-1648C>G (n.230-1648C>G)
n.513C>G
c.*1146C>G (n.*1146C>G)
c.623C>G (p.Pro208Arg)
c.212C>G (p.Pro71Arg)
c.152C>G (p.Pro51Arg)
c.836C>G (p.Pro279Arg)
c.806C>G (p.Pro269Arg)
c.680C>G (p.Pro227Arg)
c.*138C>G (n.*138C>G)
 dbSNP gnomAD v4 COSMIC
16g.27362455C>TCA7974491IL4Rc.1103C>T (p.Pro368Leu)
c.1058C>T (p.Pro353Leu)
c.230-1648C>T (n.230-1648C>T)
n.513C>T
c.*1146C>T (n.*1146C>T)
c.623C>T (p.Pro208Leu)
c.212C>T (p.Pro71Leu)
c.152C>T (p.Pro51Leu)
c.836C>T (p.Pro279Leu)
c.806C>T (p.Pro269Leu)
c.680C>T (p.Pro227Leu)
c.*138C>T (n.*138C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362455_27362456delinsCGCA2215169394IL4Rc.1103_1104delinsCG (p.Pro368=)
c.1058_1059delinsCG (p.Pro353=)
c.230-1648_230-1647delinsCG (n.230-1648_230-1647delinsCG)
n.513_514delinsCG
c.*1146_*1147delinsCG (n.*1146_*1147delinsCG)
c.623_624delinsCG (p.Pro208=)
c.212_213delinsCG (p.Pro71=)
c.152_153delinsCG (p.Pro51=)
c.836_837delinsCG (p.Pro279=)
c.806_807delinsCG (p.Pro269=)
c.680_681delinsCG (p.Pro227=)
c.*138_*139delinsCG (n.*138_*139delinsCG)
16g.27362456G>ACA7974492IL4Rc.1104G>A (p.Pro368=)
c.1059G>A (p.Pro353=)
c.230-1647G>A (n.230-1647G>A)
n.514G>A
c.*1147G>A (n.*1147G>A)
c.624G>A (p.Pro208=)
c.213G>A (p.Pro71=)
c.153G>A (p.Pro51=)
c.837G>A (p.Pro279=)
c.807G>A (p.Pro269=)
c.681G>A (p.Pro227=)
c.*139G>A (n.*139G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362456G>CCA494470737IL4Rc.1104G>C (p.Pro368=)
c.1059G>C (p.Pro353=)
c.230-1647G>C (n.230-1647G>C)
n.514G>C
c.*1147G>C (n.*1147G>C)
c.624G>C (p.Pro208=)
c.213G>C (p.Pro71=)
c.153G>C (p.Pro51=)
c.837G>C (p.Pro279=)
c.807G>C (p.Pro269=)
c.681G>C (p.Pro227=)
c.*139G>C (n.*139G>C)
16g.27362456G=CA2215169397IL4Rc.1104G= (p.Pro368=)
c.1059G= (p.Pro353=)
c.230-1647G= (n.230-1647G=)
n.514G=
c.*1147G= (n.*1147G=)
c.624G= (p.Pro208=)
c.213G= (p.Pro71=)
c.153G= (p.Pro51=)
c.837G= (p.Pro279=)
c.807G= (p.Pro269=)
c.681G= (p.Pro227=)
c.*139G= (n.*139G=)
16g.27362456G>TCA494470738IL4Rc.1104G>T (p.Pro368=)
c.1059G>T (p.Pro353=)
c.230-1647G>T (n.230-1647G>T)
n.514G>T
c.*1147G>T (n.*1147G>T)
c.624G>T (p.Pro208=)
c.213G>T (p.Pro71=)
c.153G>T (p.Pro51=)
c.837G>T (p.Pro279=)
c.807G>T (p.Pro269=)
c.681G>T (p.Pro227=)
c.*139G>T (n.*139G>T)
 dbSNP
16g.27362457delCA621769808IL4Rc.1105del (p.Val369TrpfsTer9)
c.1060del (p.Val354TrpfsTer9)
c.230-1646del (n.230-1646del)
n.515del
c.*1148del (n.*1148del)
c.625del (p.Val209TrpfsTer9)
c.214del (p.Val72TrpfsTer9)
c.154del (p.Val52TrpfsTer9)
c.838del (p.Val280TrpfsTer9)
c.808del (p.Val270TrpfsTer9)
c.682del (p.Val228TrpfsTer9)
c.*140del (n.*140del)
 dbSNP gnomAD v2
16g.27362457G>ACA395297647IL4Rc.1105G>A (p.Val369Met)
c.1060G>A (p.Val354Met)
c.230-1646G>A (n.230-1646G>A)
n.515G>A
c.*1148G>A (n.*1148G>A)
c.625G>A (p.Val209Met)
c.214G>A (p.Val72Met)
c.154G>A (p.Val52Met)
c.838G>A (p.Val280Met)
c.808G>A (p.Val270Met)
c.682G>A (p.Val228Met)
c.*140G>A (n.*140G>A)
 gnomAD v4
16g.27362457G>CCA395297648IL4Rc.1105G>C (p.Val369Leu)
c.1060G>C (p.Val354Leu)
c.230-1646G>C (n.230-1646G>C)
n.515G>C
c.*1148G>C (n.*1148G>C)
c.625G>C (p.Val209Leu)
c.214G>C (p.Val72Leu)
c.154G>C (p.Val52Leu)
c.838G>C (p.Val280Leu)
c.808G>C (p.Val270Leu)
c.682G>C (p.Val228Leu)
c.*140G>C (n.*140G>C)
16g.27362457G>TCA395297651IL4Rc.1105G>T (p.Val369Leu)
c.1060G>T (p.Val354Leu)
c.230-1646G>T (n.230-1646G>T)
n.515G>T
c.*1148G>T (n.*1148G>T)
c.625G>T (p.Val209Leu)
c.214G>T (p.Val72Leu)
c.154G>T (p.Val52Leu)
c.838G>T (p.Val280Leu)
c.808G>T (p.Val270Leu)
c.682G>T (p.Val228Leu)
c.*140G>T (n.*140G>T)
16g.27362458T>ACA395297653IL4Rc.1106T>A (p.Val369Glu)
c.1061T>A (p.Val354Glu)
c.230-1645T>A (n.230-1645T>A)
n.516T>A
c.*1149T>A (n.*1149T>A)
c.626T>A (p.Val209Glu)
c.215T>A (p.Val72Glu)
c.155T>A (p.Val52Glu)
c.839T>A (p.Val280Glu)
c.809T>A (p.Val270Glu)
c.683T>A (p.Val228Glu)
c.*141T>A (n.*141T>A)
16g.27362458T>CCA395297655IL4Rc.1106T>C (p.Val369Ala)
c.1061T>C (p.Val354Ala)
c.230-1645T>C (n.230-1645T>C)
n.516T>C
c.*1149T>C (n.*1149T>C)
c.626T>C (p.Val209Ala)
c.215T>C (p.Val72Ala)
c.155T>C (p.Val52Ala)
c.839T>C (p.Val280Ala)
c.809T>C (p.Val270Ala)
c.683T>C (p.Val228Ala)
c.*141T>C (n.*141T>C)
16g.27362458T>GCA395297657IL4Rc.1106T>G (p.Val369Gly)
c.1061T>G (p.Val354Gly)
c.230-1645T>G (n.230-1645T>G)
n.516T>G
c.*1149T>G (n.*1149T>G)
c.626T>G (p.Val209Gly)
c.215T>G (p.Val72Gly)
c.155T>G (p.Val52Gly)
c.839T>G (p.Val280Gly)
c.809T>G (p.Val270Gly)
c.683T>G (p.Val228Gly)
c.*141T>G (n.*141T>G)
16g.27362459G>ACA494470742IL4Rc.1107G>A (p.Val369=)
c.1062G>A (p.Val354=)
c.230-1644G>A (n.230-1644G>A)
n.517G>A
c.*1150G>A (n.*1150G>A)
c.627G>A (p.Val209=)
c.216G>A (p.Val72=)
c.156G>A (p.Val52=)
c.840G>A (p.Val280=)
c.810G>A (p.Val270=)
c.684G>A (p.Val228=)
c.*142G>A (n.*142G>A)
16g.27362459G>CCA494470744IL4Rc.1107G>C (p.Val369=)
c.1062G>C (p.Val354=)
c.230-1644G>C (n.230-1644G>C)
n.517G>C
c.*1150G>C (n.*1150G>C)
c.627G>C (p.Val209=)
c.216G>C (p.Val72=)
c.156G>C (p.Val52=)
c.840G>C (p.Val280=)
c.810G>C (p.Val270=)
c.684G>C (p.Val228=)
c.*142G>C (n.*142G>C)
16g.27362459G>TCA494470746IL4Rc.1107G>T (p.Val369=)
c.1062G>T (p.Val354=)
c.230-1644G>T (n.230-1644G>T)
n.517G>T
c.*1150G>T (n.*1150G>T)
c.627G>T (p.Val209=)
c.216G>T (p.Val72=)
c.156G>T (p.Val52=)
c.840G>T (p.Val280=)
c.810G>T (p.Val270=)
c.684G>T (p.Val228=)
c.*142G>T (n.*142G>T)
16g.27362460G>ACA395297665IL4Rc.1108G>A (p.Glu370Lys)
c.1063G>A (p.Glu355Lys)
c.230-1643G>A (n.230-1643G>A)
n.518G>A
c.*1151G>A (n.*1151G>A)
c.628G>A (p.Glu210Lys)
c.217G>A (p.Glu73Lys)
c.157G>A (p.Glu53Lys)
c.841G>A (p.Glu281Lys)
c.811G>A (p.Glu271Lys)
c.685G>A (p.Glu229Lys)
c.*143G>A (n.*143G>A)
16g.27362460G>CCA395297660IL4Rc.1108G>C (p.Glu370Gln)
c.1063G>C (p.Glu355Gln)
c.230-1643G>C (n.230-1643G>C)
n.518G>C
c.*1151G>C (n.*1151G>C)
c.628G>C (p.Glu210Gln)
c.217G>C (p.Glu73Gln)
c.157G>C (p.Glu53Gln)
c.841G>C (p.Glu281Gln)
c.811G>C (p.Glu271Gln)
c.685G>C (p.Glu229Gln)
c.*143G>C (n.*143G>C)
16g.27362460G>TCA395297662IL4Rc.1108G>T (p.Glu370Ter)
c.1063G>T (p.Glu355Ter)
c.230-1643G>T (n.230-1643G>T)
n.518G>T
c.*1151G>T (n.*1151G>T)
c.628G>T (p.Glu210Ter)
c.217G>T (p.Glu73Ter)
c.157G>T (p.Glu53Ter)
c.841G>T (p.Glu281Ter)
c.811G>T (p.Glu271Ter)
c.685G>T (p.Glu229Ter)
c.*143G>T (n.*143G>T)
16g.27362463_27362468delCA2540339782IL4Rc.1111_1116del (p.Cys371_Glu372del)
c.1066_1071del (p.Cys356_Glu357del)
c.230-1640_230-1635del (n.230-1640_230-1635del)
n.521_526del
c.*1154_*1159del (n.*1154_*1159del)
c.631_636del (p.Cys211_Glu212del)
c.220_225del (p.Cys74_Glu75del)
c.160_165del (p.Cys54_Glu55del)
c.844_849del (p.Cys282_Glu283del)
c.814_819del (p.Cys272_Glu273del)
c.688_693del (p.Cys230_Glu231del)
c.*146_*151del (n.*146_*151del)
16g.27362461A=CA2215169399IL4Rc.1109A= (p.Glu370=)
c.1064A= (p.Glu355=)
c.230-1642A= (n.230-1642A=)
n.519A=
c.*1152A= (n.*1152A=)
c.629A= (p.Glu210=)
c.218A= (p.Glu73=)
c.158A= (p.Glu53=)
c.842A= (p.Glu281=)
c.812A= (p.Glu271=)
c.686A= (p.Glu229=)
c.*144A= (n.*144A=)
16g.27362461A>CCA395297668IL4Rc.1109A>C (p.Glu370Ala)
c.1064A>C (p.Glu355Ala)
c.230-1642A>C (n.230-1642A>C)
n.519A>C
c.*1152A>C (n.*1152A>C)
c.629A>C (p.Glu210Ala)
c.218A>C (p.Glu73Ala)
c.158A>C (p.Glu53Ala)
c.842A>C (p.Glu281Ala)
c.812A>C (p.Glu271Ala)
c.686A>C (p.Glu229Ala)
c.*144A>C (n.*144A>C)
16g.27362461A>GCA395297670IL4Rc.1109A>G (p.Glu370Gly)
c.1064A>G (p.Glu355Gly)
c.230-1642A>G (n.230-1642A>G)
n.519A>G
c.*1152A>G (n.*1152A>G)
c.629A>G (p.Glu210Gly)
c.218A>G (p.Glu73Gly)
c.158A>G (p.Glu53Gly)
c.842A>G (p.Glu281Gly)
c.812A>G (p.Glu271Gly)
c.686A>G (p.Glu229Gly)
c.*144A>G (n.*144A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362461A>TCA395297672IL4Rc.1109A>T (p.Glu370Val)
c.1064A>T (p.Glu355Val)
c.230-1642A>T (n.230-1642A>T)
n.519A>T
c.*1152A>T (n.*1152A>T)
c.629A>T (p.Glu210Val)
c.218A>T (p.Glu73Val)
c.158A>T (p.Glu53Val)
c.842A>T (p.Glu281Val)
c.812A>T (p.Glu271Val)
c.686A>T (p.Glu229Val)
c.*144A>T (n.*144A>T)
16g.27362462G>ACA494470750IL4Rc.1110G>A (p.Glu370=)
c.1065G>A (p.Glu355=)
c.230-1641G>A (n.230-1641G>A)
n.520G>A
c.*1153G>A (n.*1153G>A)
c.630G>A (p.Glu210=)
c.219G>A (p.Glu73=)
c.159G>A (p.Glu53=)
c.843G>A (p.Glu281=)
c.813G>A (p.Glu271=)
c.687G>A (p.Glu229=)
c.*145G>A (n.*145G>A)
 gnomAD v4
16g.27362462G>CCA395297674IL4Rc.1110G>C (p.Glu370Asp)
c.1065G>C (p.Glu355Asp)
c.230-1641G>C (n.230-1641G>C)
n.520G>C
c.*1153G>C (n.*1153G>C)
c.630G>C (p.Glu210Asp)
c.219G>C (p.Glu73Asp)
c.159G>C (p.Glu53Asp)
c.843G>C (p.Glu281Asp)
c.813G>C (p.Glu271Asp)
c.687G>C (p.Glu229Asp)
c.*145G>C (n.*145G>C)
16g.27362462G>TCA395297675IL4Rc.1110G>T (p.Glu370Asp)
c.1065G>T (p.Glu355Asp)
c.230-1641G>T (n.230-1641G>T)
n.520G>T
c.*1153G>T (n.*1153G>T)
c.630G>T (p.Glu210Asp)
c.219G>T (p.Glu73Asp)
c.159G>T (p.Glu53Asp)
c.843G>T (p.Glu281Asp)
c.813G>T (p.Glu271Asp)
c.687G>T (p.Glu229Asp)
c.*145G>T (n.*145G>T)
16g.27362463T>ACA395297678IL4Rc.1111T>A (p.Cys371Ser)
c.1066T>A (p.Cys356Ser)
c.230-1640T>A (n.230-1640T>A)
n.521T>A
c.*1154T>A (n.*1154T>A)
c.631T>A (p.Cys211Ser)
c.220T>A (p.Cys74Ser)
c.160T>A (p.Cys54Ser)
c.844T>A (p.Cys282Ser)
c.814T>A (p.Cys272Ser)
c.688T>A (p.Cys230Ser)
c.*146T>A (n.*146T>A)
16g.27362463T>CCA395297685IL4Rc.1111T>C (p.Cys371Arg)
c.1066T>C (p.Cys356Arg)
c.230-1640T>C (n.230-1640T>C)
n.521T>C
c.*1154T>C (n.*1154T>C)
c.631T>C (p.Cys211Arg)
c.220T>C (p.Cys74Arg)
c.160T>C (p.Cys54Arg)
c.844T>C (p.Cys282Arg)
c.814T>C (p.Cys272Arg)
c.688T>C (p.Cys230Arg)
c.*146T>C (n.*146T>C)
16g.27362463T>GCA395297683IL4Rc.1111T>G (p.Cys371Gly)
c.1066T>G (p.Cys356Gly)
c.230-1640T>G (n.230-1640T>G)
n.521T>G
c.*1154T>G (n.*1154T>G)
c.631T>G (p.Cys211Gly)
c.220T>G (p.Cys74Gly)
c.160T>G (p.Cys54Gly)
c.844T>G (p.Cys282Gly)
c.814T>G (p.Cys272Gly)
c.688T>G (p.Cys230Gly)
c.*146T>G (n.*146T>G)
16g.27362464G>ACA395297689IL4Rc.1112G>A (p.Cys371Tyr)
c.1067G>A (p.Cys356Tyr)
c.230-1639G>A (n.230-1639G>A)
n.522G>A
c.*1155G>A (n.*1155G>A)
c.632G>A (p.Cys211Tyr)
c.221G>A (p.Cys74Tyr)
c.161G>A (p.Cys54Tyr)
c.845G>A (p.Cys282Tyr)
c.815G>A (p.Cys272Tyr)
c.689G>A (p.Cys230Tyr)
c.*147G>A (n.*147G>A)
 gnomAD v4
16g.27362464G>CCA395297690IL4Rc.1112G>C (p.Cys371Ser)
c.1067G>C (p.Cys356Ser)
c.230-1639G>C (n.230-1639G>C)
n.522G>C
c.*1155G>C (n.*1155G>C)
c.632G>C (p.Cys211Ser)
c.221G>C (p.Cys74Ser)
c.161G>C (p.Cys54Ser)
c.845G>C (p.Cys282Ser)
c.815G>C (p.Cys272Ser)
c.689G>C (p.Cys230Ser)
c.*147G>C (n.*147G>C)
16g.27362464G>TCA395297693IL4Rc.1112G>T (p.Cys371Phe)
c.1067G>T (p.Cys356Phe)
c.230-1639G>T (n.230-1639G>T)
n.522G>T
c.*1155G>T (n.*1155G>T)
c.632G>T (p.Cys211Phe)
c.221G>T (p.Cys74Phe)
c.161G>T (p.Cys54Phe)
c.845G>T (p.Cys282Phe)
c.815G>T (p.Cys272Phe)
c.689G>T (p.Cys230Phe)
c.*147G>T (n.*147G>T)
16g.27362465T>ACA395297697IL4Rc.1113T>A (p.Cys371Ter)
c.1068T>A (p.Cys356Ter)
c.230-1638T>A (n.230-1638T>A)
n.523T>A
c.*1156T>A (n.*1156T>A)
c.633T>A (p.Cys211Ter)
c.222T>A (p.Cys74Ter)
c.162T>A (p.Cys54Ter)
c.846T>A (p.Cys282Ter)
c.816T>A (p.Cys272Ter)
c.690T>A (p.Cys230Ter)
c.*148T>A (n.*148T>A)
16g.27362465T>CCA494470764IL4Rc.1113T>C (p.Cys371=)
c.1068T>C (p.Cys356=)
c.230-1638T>C (n.230-1638T>C)
n.523T>C
c.*1156T>C (n.*1156T>C)
c.633T>C (p.Cys211=)
c.222T>C (p.Cys74=)
c.162T>C (p.Cys54=)
c.846T>C (p.Cys282=)
c.816T>C (p.Cys272=)
c.690T>C (p.Cys230=)
c.*148T>C (n.*148T>C)
16g.27362465T>GCA395297699IL4Rc.1113T>G (p.Cys371Trp)
c.1068T>G (p.Cys356Trp)
c.230-1638T>G (n.230-1638T>G)
n.523T>G
c.*1156T>G (n.*1156T>G)
c.633T>G (p.Cys211Trp)
c.222T>G (p.Cys74Trp)
c.162T>G (p.Cys54Trp)
c.846T>G (p.Cys282Trp)
c.816T>G (p.Cys272Trp)
c.690T>G (p.Cys230Trp)
c.*148T>G (n.*148T>G)
16g.27362465_27362471delinsTGAGGAGCA2215169404IL4Rc.1113_1119delinsTGAGGAG (p.Cys371=)
c.1068_1074delinsTGAGGAG (p.Cys356=)
c.230-1638_230-1632delinsTGAGGAG (n.230-1638_230-1632delinsTGAGGAG)
n.523_529delinsTGAGGAG
c.*1156_*1162delinsTGAGGAG (n.*1156_*1162delinsTGAGGAG)
c.633_639delinsTGAGGAG (p.Cys211=)
c.222_228delinsTGAGGAG (p.Cys74=)
c.162_168delinsTGAGGAG (p.Cys54=)
c.846_852delinsTGAGGAG (p.Cys282=)
c.816_822delinsTGAGGAG (p.Cys272=)
c.690_696delinsTGAGGAG (p.Cys230=)
c.*148_*154delinsTGAGGAG (n.*148_*154delinsTGAGGAG)
16g.27362466G>ACA395297704IL4Rc.1114G>A (p.Glu372Lys)
c.1069G>A (p.Glu357Lys)
c.230-1637G>A (n.230-1637G>A)
n.524G>A
c.*1157G>A (n.*1157G>A)
c.634G>A (p.Glu212Lys)
c.223G>A (p.Glu75Lys)
c.163G>A (p.Glu55Lys)
c.847G>A (p.Glu283Lys)
c.817G>A (p.Glu273Lys)
c.691G>A (p.Glu231Lys)
c.*149G>A (n.*149G>A)
16g.27362466G>CCA395297707IL4Rc.1114G>C (p.Glu372Gln)
c.1069G>C (p.Glu357Gln)
c.230-1637G>C (n.230-1637G>C)
n.524G>C
c.*1157G>C (n.*1157G>C)
c.634G>C (p.Glu212Gln)
c.223G>C (p.Glu75Gln)
c.163G>C (p.Glu55Gln)
c.847G>C (p.Glu283Gln)
c.817G>C (p.Glu273Gln)
c.691G>C (p.Glu231Gln)
c.*149G>C (n.*149G>C)
16g.27362466G>TCA395297709IL4Rc.1114G>T (p.Glu372Ter)
c.1069G>T (p.Glu357Ter)
c.230-1637G>T (n.230-1637G>T)
n.524G>T
c.*1157G>T (n.*1157G>T)
c.634G>T (p.Glu212Ter)
c.223G>T (p.Glu75Ter)
c.163G>T (p.Glu55Ter)
c.847G>T (p.Glu283Ter)
c.817G>T (p.Glu273Ter)
c.691G>T (p.Glu231Ter)
c.*149G>T (n.*149G>T)
16g.27362479_27362481dupCA7974494IL4Rc.1127_1129dup (p.Glu376_Val377insGlu)
c.1082_1084dup (p.Glu361_Val362insGlu)
c.230-1624_230-1622dup (n.230-1624_230-1622dup)
n.537_539dup
c.*1170_*1172dup (n.*1170_*1172dup)
c.647_649dup (p.Glu216_Val217insGlu)
c.236_238dup (p.Glu79_Val80insGlu)
c.176_178dup (p.Glu59_Val60insGlu)
c.860_862dup (p.Glu287_Val288insGlu)
c.830_832dup (p.Glu277_Val278insGlu)
c.704_706dup (p.Glu235_Val236insGlu)
c.*162_*164dup (n.*162_*164dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362479_27362481delCA7974493IL4Rc.1127_1129del (p.Glu376del)
c.1082_1084del (p.Glu361del)
c.230-1624_230-1622del (n.230-1624_230-1622del)
n.537_539del
c.*1170_*1172del (n.*1170_*1172del)
c.647_649del (p.Glu216del)
c.236_238del (p.Glu79del)
c.176_178del (p.Glu59del)
c.860_862del (p.Glu287del)
c.830_832del (p.Glu277del)
c.704_706del (p.Glu235del)
c.*162_*164del (n.*162_*164del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.27362476_27362481delCA621769809IL4Rc.1124_1129del (p.Glu375_Glu376del)
c.1079_1084del (p.Glu360_Glu361del)
c.230-1627_230-1622del (n.230-1627_230-1622del)
n.534_539del
c.*1167_*1172del (n.*1167_*1172del)
c.644_649del (p.Glu215_Glu216del)
c.233_238del (p.Glu78_Glu79del)
c.173_178del (p.Glu58_Glu59del)
c.857_862del (p.Glu286_Glu287del)
c.827_832del (p.Glu276_Glu277del)
c.701_706del (p.Glu234_Glu235del)
c.*159_*164del (n.*159_*164del)
 dbSNP gnomAD v2 gnomAD v4
16g.27362467A>CCA395297718IL4Rc.1115A>C (p.Glu372Ala)
c.1070A>C (p.Glu357Ala)
c.230-1636A>C (n.230-1636A>C)
n.525A>C
c.*1158A>C (n.*1158A>C)
c.635A>C (p.Glu212Ala)
c.224A>C (p.Glu75Ala)
c.164A>C (p.Glu55Ala)
c.848A>C (p.Glu283Ala)
c.818A>C (p.Glu273Ala)
c.692A>C (p.Glu231Ala)
c.*150A>C (n.*150A>C)
16g.27362467A>GCA395297715IL4Rc.1115A>G (p.Glu372Gly)
c.1070A>G (p.Glu357Gly)
c.230-1636A>G (n.230-1636A>G)
n.525A>G
c.*1158A>G (n.*1158A>G)
c.635A>G (p.Glu212Gly)
c.224A>G (p.Glu75Gly)
c.164A>G (p.Glu55Gly)
c.848A>G (p.Glu283Gly)
c.818A>G (p.Glu273Gly)
c.692A>G (p.Glu231Gly)
c.*150A>G (n.*150A>G)
16g.27362467A>TCA395297713IL4Rc.1115A>T (p.Glu372Val)
c.1070A>T (p.Glu357Val)
c.230-1636A>T (n.230-1636A>T)
n.525A>T
c.*1158A>T (n.*1158A>T)
c.635A>T (p.Glu212Val)
c.224A>T (p.Glu75Val)
c.164A>T (p.Glu55Val)
c.848A>T (p.Glu283Val)
c.818A>T (p.Glu273Val)
c.692A>T (p.Glu231Val)
c.*150A>T (n.*150A>T)
16g.27362468G>ACA494470778IL4Rc.1116G>A (p.Glu372=)
c.1071G>A (p.Glu357=)
c.230-1635G>A (n.230-1635G>A)
n.526G>A
c.*1159G>A (n.*1159G>A)
c.636G>A (p.Glu212=)
c.225G>A (p.Glu75=)
c.165G>A (p.Glu55=)
c.849G>A (p.Glu283=)
c.819G>A (p.Glu273=)
c.693G>A (p.Glu231=)
c.*151G>A (n.*151G>A)
 dbSNP
16g.27362468G>CCA395297720IL4Rc.1116G>C (p.Glu372Asp)
c.1071G>C (p.Glu357Asp)
c.230-1635G>C (n.230-1635G>C)
n.526G>C
c.*1159G>C (n.*1159G>C)
c.636G>C (p.Glu212Asp)
c.225G>C (p.Glu75Asp)
c.165G>C (p.Glu55Asp)
c.849G>C (p.Glu283Asp)
c.819G>C (p.Glu273Asp)
c.693G>C (p.Glu231Asp)
c.*151G>C (n.*151G>C)
16g.27362468G=CA2215169409IL4Rc.1116G= (p.Glu372=)
c.1071G= (p.Glu357=)
c.230-1635G= (n.230-1635G=)
n.526G=
c.*1159G= (n.*1159G=)
c.636G= (p.Glu212=)
c.225G= (p.Glu75=)
c.165G= (p.Glu55=)
c.849G= (p.Glu283=)
c.819G= (p.Glu273=)
c.693G= (p.Glu231=)
c.*151G= (n.*151G=)
16g.27362468G>TCA395297721IL4Rc.1116G>T (p.Glu372Asp)
c.1071G>T (p.Glu357Asp)
c.230-1635G>T (n.230-1635G>T)
n.526G>T
c.*1159G>T (n.*1159G>T)
c.636G>T (p.Glu212Asp)
c.225G>T (p.Glu75Asp)
c.165G>T (p.Glu55Asp)
c.849G>T (p.Glu283Asp)
c.819G>T (p.Glu273Asp)
c.693G>T (p.Glu231Asp)
c.*151G>T (n.*151G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.27362469G>ACA395297724IL4Rc.1117G>A (p.Glu373Lys)
c.1072G>A (p.Glu358Lys)
c.230-1634G>A (n.230-1634G>A)
n.527G>A
c.*1160G>A (n.*1160G>A)
c.637G>A (p.Glu213Lys)
c.226G>A (p.Glu76Lys)
c.166G>A (p.Glu56Lys)
c.850G>A (p.Glu284Lys)
c.820G>A (p.Glu274Lys)
c.694G>A (p.Glu232Lys)
c.*152G>A (n.*152G>A)
 gnomAD v4 COSMIC
16g.27362469G>CCA395297726IL4Rc.1117G>C (p.Glu373Gln)
c.1072G>C (p.Glu358Gln)
c.230-1634G>C (n.230-1634G>C)
n.527G>C
c.*1160G>C (n.*1160G>C)
c.637G>C (p.Glu213Gln)
c.226G>C (p.Glu76Gln)
c.166G>C (p.Glu56Gln)
c.850G>C (p.Glu284Gln)
c.820G>C (p.Glu274Gln)
c.694G>C (p.Glu232Gln)
c.*152G>C (n.*152G>C)
16g.27362469G>TCA395297729IL4Rc.1117G>T (p.Glu373Ter)
c.1072G>T (p.Glu358Ter)
c.230-1634G>T (n.230-1634G>T)
n.527G>T
c.*1160G>T (n.*1160G>T)
c.637G>T (p.Glu213Ter)
c.226G>T (p.Glu76Ter)
c.166G>T (p.Glu56Ter)
c.850G>T (p.Glu284Ter)
c.820G>T (p.Glu274Ter)
c.694G>T (p.Glu232Ter)
c.*152G>T (n.*152G>T)
 COSMIC
16g.27362470A>CCA395297732IL4Rc.1118A>C (p.Glu373Ala)
c.1073A>C (p.Glu358Ala)
c.230-1633A>C (n.230-1633A>C)
n.528A>C
c.*1161A>C (n.*1161A>C)
c.638A>C (p.Glu213Ala)
c.227A>C (p.Glu76Ala)
c.167A>C (p.Glu56Ala)
c.851A>C (p.Glu284Ala)
c.821A>C (p.Glu274Ala)
c.695A>C (p.Glu232Ala)
c.*153A>C (n.*153A>C)
16g.27362470A>GCA395297734IL4Rc.1118A>G (p.Glu373Gly)
c.1073A>G (p.Glu358Gly)
c.230-1633A>G (n.230-1633A>G)
n.528A>G
c.*1161A>G (n.*1161A>G)
c.638A>G (p.Glu213Gly)
c.227A>G (p.Glu76Gly)
c.167A>G (p.Glu56Gly)
c.851A>G (p.Glu284Gly)
c.821A>G (p.Glu274Gly)
c.695A>G (p.Glu232Gly)
c.*153A>G (n.*153A>G)
16g.27362470A>TCA395297736IL4Rc.1118A>T (p.Glu373Val)
c.1073A>T (p.Glu358Val)
c.230-1633A>T (n.230-1633A>T)
n.528A>T
c.*1161A>T (n.*1161A>T)
c.638A>T (p.Glu213Val)
c.227A>T (p.Glu76Val)
c.167A>T (p.Glu56Val)
c.851A>T (p.Glu284Val)
c.821A>T (p.Glu274Val)
c.695A>T (p.Glu232Val)
c.*153A>T (n.*153A>T)
16g.27362471G>ACA494470783IL4Rc.1119G>A (p.Glu373=)
c.1074G>A (p.Glu358=)
c.230-1632G>A (n.230-1632G>A)
n.529G>A
c.*1162G>A (n.*1162G>A)
c.639G>A (p.Glu213=)
c.228G>A (p.Glu76=)
c.168G>A (p.Glu56=)
c.852G>A (p.Glu284=)
c.822G>A (p.Glu274=)
c.696G>A (p.Glu232=)
c.*154G>A (n.*154G>A)
16g.27362471G>CCA395297738IL4Rc.1119G>C (p.Glu373Asp)
c.1074G>C (p.Glu358Asp)
c.230-1632G>C (n.230-1632G>C)
n.529G>C
c.*1162G>C (n.*1162G>C)
c.639G>C (p.Glu213Asp)
c.228G>C (p.Glu76Asp)
c.168G>C (p.Glu56Asp)
c.852G>C (p.Glu284Asp)
c.822G>C (p.Glu274Asp)
c.696G>C (p.Glu232Asp)
c.*154G>C (n.*154G>C)
 ClinVar
16g.27362471G>TCA395297739IL4Rc.1119G>T (p.Glu373Asp)
c.1074G>T (p.Glu358Asp)
c.230-1632G>T (n.230-1632G>T)
n.529G>T
c.*1162G>T (n.*1162G>T)
c.639G>T (p.Glu213Asp)
c.228G>T (p.Glu76Asp)
c.168G>T (p.Glu56Asp)
c.852G>T (p.Glu284Asp)
c.822G>T (p.Glu274Asp)
c.696G>T (p.Glu232Asp)
c.*154G>T (n.*154G>T)
16g.27362472G>ACA395297740IL4Rc.1120G>A (p.Glu374Lys)
c.1075G>A (p.Glu359Lys)
c.230-1631G>A (n.230-1631G>A)
n.530G>A
c.*1163G>A (n.*1163G>A)
c.640G>A (p.Glu214Lys)
c.229G>A (p.Glu77Lys)
c.169G>A (p.Glu57Lys)
c.853G>A (p.Glu285Lys)
c.823G>A (p.Glu275Lys)
c.697G>A (p.Glu233Lys)
c.*155G>A (n.*155G>A)
16g.27362472G>CCA395297742IL4Rc.1120G>C (p.Glu374Gln)
c.1075G>C (p.Glu359Gln)
c.230-1631G>C (n.230-1631G>C)
n.530G>C
c.*1163G>C (n.*1163G>C)
c.640G>C (p.Glu214Gln)
c.229G>C (p.Glu77Gln)
c.169G>C (p.Glu57Gln)
c.853G>C (p.Glu285Gln)
c.823G>C (p.Glu275Gln)
c.697G>C (p.Glu233Gln)
c.*155G>C (n.*155G>C)
16g.27362472G>TCA395297744IL4Rc.1120G>T (p.Glu374Ter)
c.1075G>T (p.Glu359Ter)
c.230-1631G>T (n.230-1631G>T)
n.530G>T
c.*1163G>T (n.*1163G>T)
c.640G>T (p.Glu214Ter)
c.229G>T (p.Glu77Ter)
c.169G>T (p.Glu57Ter)
c.853G>T (p.Glu285Ter)
c.823G>T (p.Glu275Ter)
c.697G>T (p.Glu233Ter)
c.*155G>T (n.*155G>T)
16g.27362473A>CCA395297748IL4Rc.1121A>C (p.Glu374Ala)
c.1076A>C (p.Glu359Ala)
c.230-1630A>C (n.230-1630A>C)
n.531A>C
c.*1164A>C (n.*1164A>C)
c.641A>C (p.Glu214Ala)
c.230A>C (p.Glu77Ala)
c.170A>C (p.Glu57Ala)
c.854A>C (p.Glu285Ala)
c.824A>C (p.Glu275Ala)
c.698A>C (p.Glu233Ala)
c.*156A>C (n.*156A>C)
16g.27362473A>GCA395297746IL4Rc.1121A>G (p.Glu374Gly)
c.1076A>G (p.Glu359Gly)
c.230-1630A>G (n.230-1630A>G)
n.531A>G
c.*1164A>G (n.*1164A>G)
c.641A>G (p.Glu214Gly)
c.230A>G (p.Glu77Gly)
c.170A>G (p.Glu57Gly)
c.854A>G (p.Glu285Gly)
c.824A>G (p.Glu275Gly)
c.698A>G (p.Glu233Gly)
c.*156A>G (n.*156A>G)
16g.27362473A>TCA395297747IL4Rc.1121A>T (p.Glu374Val)
c.1076A>T (p.Glu359Val)
c.230-1630A>T (n.230-1630A>T)
n.531A>T
c.*1164A>T (n.*1164A>T)
c.641A>T (p.Glu214Val)
c.230A>T (p.Glu77Val)
c.170A>T (p.Glu57Val)
c.854A>T (p.Glu285Val)
c.824A>T (p.Glu275Val)
c.698A>T (p.Glu233Val)
c.*156A>T (n.*156A>T)
16g.27362474G>ACA494470792IL4Rc.1122G>A (p.Glu374=)
c.1077G>A (p.Glu359=)
c.230-1629G>A (n.230-1629G>A)
n.532G>A
c.*1165G>A (n.*1165G>A)
c.642G>A (p.Glu214=)
c.231G>A (p.Glu77=)
c.171G>A (p.Glu57=)
c.855G>A (p.Glu285=)
c.825G>A (p.Glu275=)
c.699G>A (p.Glu233=)
c.*157G>A (n.*157G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.27362474G>CCA395297749IL4Rc.1122G>C (p.Glu374Asp)
c.1077G>C (p.Glu359Asp)
c.230-1629G>C (n.230-1629G>C)
n.532G>C
c.*1165G>C (n.*1165G>C)
c.642G>C (p.Glu214Asp)
c.231G>C (p.Glu77Asp)
c.171G>C (p.Glu57Asp)
c.855G>C (p.Glu285Asp)
c.825G>C (p.Glu275Asp)
c.699G>C (p.Glu233Asp)
c.*157G>C (n.*157G>C)
16g.27362474G=CA2215169415IL4Rc.1122G= (p.Glu374=)
c.1077G= (p.Glu359=)
c.230-1629G= (n.230-1629G=)
n.532G=
c.*1165G= (n.*1165G=)
c.642G= (p.Glu214=)
c.231G= (p.Glu77=)
c.171G= (p.Glu57=)
c.855G= (p.Glu285=)
c.825G= (p.Glu275=)
c.699G= (p.Glu233=)
c.*157G= (n.*157G=)
16g.27362474G>TCA395297750IL4Rc.1122G>T (p.Glu374Asp)
c.1077G>T (p.Glu359Asp)
c.230-1629G>T (n.230-1629G>T)
n.532G>T
c.*1165G>T (n.*1165G>T)
c.642G>T (p.Glu214Asp)
c.231G>T (p.Glu77Asp)
c.171G>T (p.Glu57Asp)
c.855G>T (p.Glu285Asp)
c.825G>T (p.Glu275Asp)
c.699G>T (p.Glu233Asp)
c.*157G>T (n.*157G>T)
16g.27362475G>ACA395297751IL4Rc.1123G>A (p.Glu375Lys)
c.1078G>A (p.Glu360Lys)
c.230-1628G>A (n.230-1628G>A)
n.533G>A
c.*1166G>A (n.*1166G>A)
c.643G>A (p.Glu215Lys)
c.232G>A (p.Glu78Lys)
c.172G>A (p.Glu58Lys)
c.856G>A (p.Glu286Lys)
c.826G>A (p.Glu276Lys)
c.700G>A (p.Glu234Lys)
c.*158G>A (n.*158G>A)
16g.27362475G>CCA395297752IL4Rc.1123G>C (p.Glu375Gln)
c.1078G>C (p.Glu360Gln)
c.230-1628G>C (n.230-1628G>C)
n.533G>C
c.*1166G>C (n.*1166G>C)
c.643G>C (p.Glu215Gln)
c.232G>C (p.Glu78Gln)
c.172G>C (p.Glu58Gln)
c.856G>C (p.Glu286Gln)
c.826G>C (p.Glu276Gln)
c.700G>C (p.Glu234Gln)
c.*158G>C (n.*158G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.27362475G=CA2215169416IL4Rc.1123G= (p.Glu375=)
c.1078G= (p.Glu360=)
c.230-1628G= (n.230-1628G=)
n.533G=
c.*1166G= (n.*1166G=)
c.643G= (p.Glu215=)
c.232G= (p.Glu78=)
c.172G= (p.Glu58=)
c.856G= (p.Glu286=)
c.826G= (p.Glu276=)
c.700G= (p.Glu234=)
c.*158G= (n.*158G=)
16g.27362475G>TCA395297753IL4Rc.1123G>T (p.Glu375Ter)
c.1078G>T (p.Glu360Ter)
c.230-1628G>T (n.230-1628G>T)
n.533G>T
c.*1166G>T (n.*1166G>T)
c.643G>T (p.Glu215Ter)
c.232G>T (p.Glu78Ter)
c.172G>T (p.Glu58Ter)
c.856G>T (p.Glu286Ter)
c.826G>T (p.Glu276Ter)
c.700G>T (p.Glu234Ter)
c.*158G>T (n.*158G>T)
16g.27362476A>CCA395297754IL4Rc.1124A>C (p.Glu375Ala)
c.1079A>C (p.Glu360Ala)
c.230-1627A>C (n.230-1627A>C)
n.534A>C
c.*1167A>C (n.*1167A>C)
c.644A>C (p.Glu215Ala)
c.233A>C (p.Glu78Ala)
c.173A>C (p.Glu58Ala)
c.857A>C (p.Glu286Ala)
c.827A>C (p.Glu276Ala)
c.701A>C (p.Glu234Ala)
c.*159A>C (n.*159A>C)
16g.27362476A>GCA395297755IL4Rc.1124A>G (p.Glu375Gly)
c.1079A>G (p.Glu360Gly)
c.230-1627A>G (n.230-1627A>G)
n.534A>G
c.*1167A>G (n.*1167A>G)
c.644A>G (p.Glu215Gly)
c.233A>G (p.Glu78Gly)
c.173A>G (p.Glu58Gly)
c.857A>G (p.Glu286Gly)
c.827A>G (p.Glu276Gly)
c.701A>G (p.Glu234Gly)
c.*159A>G (n.*159A>G)
16g.27362476A>TCA395297756IL4Rc.1124A>T (p.Glu375Val)
c.1079A>T (p.Glu360Val)
c.230-1627A>T (n.230-1627A>T)
n.534A>T
c.*1167A>T (n.*1167A>T)
c.644A>T (p.Glu215Val)
c.233A>T (p.Glu78Val)
c.173A>T (p.Glu58Val)
c.857A>T (p.Glu286Val)
c.827A>T (p.Glu276Val)
c.701A>T (p.Glu234Val)
c.*159A>T (n.*159A>T)
16g.27362477G>ACA494470798IL4Rc.1125G>A (p.Glu375=)
c.1080G>A (p.Glu360=)
c.230-1626G>A (n.230-1626G>A)
n.535G>A
c.*1168G>A (n.*1168G>A)
c.645G>A (p.Glu215=)
c.234G>A (p.Glu78=)
c.174G>A (p.Glu58=)
c.858G>A (p.Glu286=)
c.828G>A (p.Glu276=)
c.702G>A (p.Glu234=)
c.*160G>A (n.*160G>A)
16g.27362477G>CCA395297757IL4Rc.1125G>C (p.Glu375Asp)
c.1080G>C (p.Glu360Asp)
c.230-1626G>C (n.230-1626G>C)
n.535G>C
c.*1168G>C (n.*1168G>C)
c.645G>C (p.Glu215Asp)
c.234G>C (p.Glu78Asp)
c.174G>C (p.Glu58Asp)
c.858G>C (p.Glu286Asp)
c.828G>C (p.Glu276Asp)
c.702G>C (p.Glu234Asp)
c.*160G>C (n.*160G>C)
16g.27362477G>TCA395297758IL4Rc.1125G>T (p.Glu375Asp)
c.1080G>T (p.Glu360Asp)
c.230-1626G>T (n.230-1626G>T)
n.535G>T
c.*1168G>T (n.*1168G>T)
c.645G>T (p.Glu215Asp)
c.234G>T (p.Glu78Asp)
c.174G>T (p.Glu58Asp)
c.858G>T (p.Glu286Asp)
c.828G>T (p.Glu276Asp)
c.702G>T (p.Glu234Asp)
c.*160G>T (n.*160G>T)
16g.27362478G>ACA395297759IL4Rc.1126G>A (p.Glu376Lys)
c.1081G>A (p.Glu361Lys)
c.230-1625G>A (n.230-1625G>A)
n.536G>A
c.*1169G>A (n.*1169G>A)
c.646G>A (p.Glu216Lys)
c.235G>A (p.Glu79Lys)
c.175G>A (p.Glu59Lys)
c.859G>A (p.Glu287Lys)
c.829G>A (p.Glu277Lys)
c.703G>A (p.Glu235Lys)
c.*161G>A (n.*161G>A)
16g.27362478G>CCA395297760IL4Rc.1126G>C (p.Glu376Gln)
c.1081G>C (p.Glu361Gln)
c.230-1625G>C (n.230-1625G>C)
n.536G>C
c.*1169G>C (n.*1169G>C)
c.646G>C (p.Glu216Gln)
c.235G>C (p.Glu79Gln)
c.175G>C (p.Glu59Gln)
c.859G>C (p.Glu287Gln)
c.829G>C (p.Glu277Gln)
c.703G>C (p.Glu235Gln)
c.*161G>C (n.*161G>C)
16g.27362478G>TCA395297761IL4Rc.1126G>T (p.Glu376Ter)
c.1081G>T (p.Glu361Ter)
c.230-1625G>T (n.230-1625G>T)
n.536G>T
c.*1169G>T (n.*1169G>T)
c.646G>T (p.Glu216Ter)
c.235G>T (p.Glu79Ter)
c.175G>T (p.Glu59Ter)
c.859G>T (p.Glu287Ter)
c.829G>T (p.Glu277Ter)
c.703G>T (p.Glu235Ter)
c.*161G>T (n.*161G>T)
16g.27362479A>CCA395297763IL4Rc.1127A>C (p.Glu376Ala)
c.1082A>C (p.Glu361Ala)
c.230-1624A>C (n.230-1624A>C)
n.537A>C
c.*1170A>C (n.*1170A>C)
c.647A>C (p.Glu216Ala)
c.236A>C (p.Glu79Ala)
c.176A>C (p.Glu59Ala)
c.860A>C (p.Glu287Ala)
c.830A>C (p.Glu277Ala)
c.704A>C (p.Glu235Ala)
c.*162A>C (n.*162A>C)
16g.27362479A>GCA395297764IL4Rc.1127A>G (p.Glu376Gly)
c.1082A>G (p.Glu361Gly)
c.230-1624A>G (n.230-1624A>G)
n.537A>G
c.*1170A>G (n.*1170A>G)
c.647A>G (p.Glu216Gly)
c.236A>G (p.Glu79Gly)
c.176A>G (p.Glu59Gly)
c.860A>G (p.Glu287Gly)
c.830A>G (p.Glu277Gly)
c.704A>G (p.Glu235Gly)
c.*162A>G (n.*162A>G)
16g.27362479A>TCA395297762IL4Rc.1127A>T (p.Glu376Val)
c.1082A>T (p.Glu361Val)
c.230-1624A>T (n.230-1624A>T)
n.537A>T
c.*1170A>T (n.*1170A>T)
c.647A>T (p.Glu216Val)
c.236A>T (p.Glu79Val)
c.176A>T (p.Glu59Val)
c.860A>T (p.Glu287Val)
c.830A>T (p.Glu277Val)
c.704A>T (p.Glu235Val)
c.*162A>T (n.*162A>T)
16g.27362480G>ACA494470804IL4Rc.1128G>A (p.Glu376=)
c.1083G>A (p.Glu361=)
c.230-1623G>A (n.230-1623G>A)
n.538G>A
c.*1171G>A (n.*1171G>A)
c.648G>A (p.Glu216=)
c.237G>A (p.Glu79=)
c.177G>A (p.Glu59=)
c.861G>A (p.Glu287=)
c.831G>A (p.Glu277=)
c.705G>A (p.Glu235=)
c.*163G>A (n.*163G>A)
16g.27362480G>CCA395297766IL4Rc.1128G>C (p.Glu376Asp)
c.1083G>C (p.Glu361Asp)
c.230-1623G>C (n.230-1623G>C)
n.538G>C
c.*1171G>C (n.*1171G>C)
c.648G>C (p.Glu216Asp)
c.237G>C (p.Glu79Asp)
c.177G>C (p.Glu59Asp)
c.861G>C (p.Glu287Asp)
c.831G>C (p.Glu277Asp)
c.705G>C (p.Glu235Asp)
c.*163G>C (n.*163G>C)
16g.27362480G>TCA395297765IL4Rc.1128G>T (p.Glu376Asp)
c.1083G>T (p.Glu361Asp)
c.230-1623G>T (n.230-1623G>T)
n.538G>T
c.*1171G>T (n.*1171G>T)
c.648G>T (p.Glu216Asp)
c.237G>T (p.Glu79Asp)
c.177G>T (p.Glu59Asp)
c.861G>T (p.Glu287Asp)
c.831G>T (p.Glu277Asp)
c.705G>T (p.Glu235Asp)
c.*163G>T (n.*163G>T)
16g.27362481G>ACA7974495IL4Rc.1129G>A (p.Val377Ile)
c.1084G>A (p.Val362Ile)
c.230-1622G>A (n.230-1622G>A)
n.539G>A
c.*1172G>A (n.*1172G>A)
c.649G>A (p.Val217Ile)
c.238G>A (p.Val80Ile)
c.178G>A (p.Val60Ile)
c.862G>A (p.Val288Ile)
c.832G>A (p.Val278Ile)
c.706G>A (p.Val236Ile)
c.*164G>A (n.*164G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362481G>CCA395297767IL4Rc.1129G>C (p.Val377Leu)
c.1084G>C (p.Val362Leu)
c.230-1622G>C (n.230-1622G>C)
n.539G>C
c.*1172G>C (n.*1172G>C)
c.649G>C (p.Val217Leu)
c.238G>C (p.Val80Leu)
c.178G>C (p.Val60Leu)
c.862G>C (p.Val288Leu)
c.832G>C (p.Val278Leu)
c.706G>C (p.Val236Leu)
c.*164G>C (n.*164G>C)
16g.27362481G=CA2215169417IL4Rc.1129G= (p.Val377=)
c.1084G= (p.Val362=)
c.230-1622G= (n.230-1622G=)
n.539G=
c.*1172G= (n.*1172G=)
c.649G= (p.Val217=)
c.238G= (p.Val80=)
c.178G= (p.Val60=)
c.862G= (p.Val288=)
c.832G= (p.Val278=)
c.706G= (p.Val236=)
c.*164G= (n.*164G=)
16g.27362481G>TCA395297768IL4Rc.1129G>T (p.Val377Leu)
c.1084G>T (p.Val362Leu)
c.230-1622G>T (n.230-1622G>T)
n.539G>T
c.*1172G>T (n.*1172G>T)
c.649G>T (p.Val217Leu)
c.238G>T (p.Val80Leu)
c.178G>T (p.Val60Leu)
c.862G>T (p.Val288Leu)
c.832G>T (p.Val278Leu)
c.706G>T (p.Val236Leu)
c.*164G>T (n.*164G>T)
16g.27362482T>ACA395297769IL4Rc.1130T>A (p.Val377Glu)
c.1085T>A (p.Val362Glu)
c.230-1621T>A (n.230-1621T>A)
n.540T>A
c.*1173T>A (n.*1173T>A)
c.650T>A (p.Val217Glu)
c.239T>A (p.Val80Glu)
c.179T>A (p.Val60Glu)
c.863T>A (p.Val288Glu)
c.833T>A (p.Val278Glu)
c.707T>A (p.Val236Glu)
c.*165T>A (n.*165T>A)
 dbSNP gnomAD v4
16g.27362482T>CCA7974496IL4Rc.1130T>C (p.Val377Ala)
c.1085T>C (p.Val362Ala)
c.230-1621T>C (n.230-1621T>C)
n.540T>C
c.*1173T>C (n.*1173T>C)
c.650T>C (p.Val217Ala)
c.239T>C (p.Val80Ala)
c.179T>C (p.Val60Ala)
c.863T>C (p.Val288Ala)
c.833T>C (p.Val278Ala)
c.707T>C (p.Val236Ala)
c.*165T>C (n.*165T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362482T>GCA395297772IL4Rc.1130T>G (p.Val377Gly)
c.1085T>G (p.Val362Gly)
c.230-1621T>G (n.230-1621T>G)
n.540T>G
c.*1173T>G (n.*1173T>G)
c.650T>G (p.Val217Gly)
c.239T>G (p.Val80Gly)
c.179T>G (p.Val60Gly)
c.863T>G (p.Val288Gly)
c.833T>G (p.Val278Gly)
c.707T>G (p.Val236Gly)
c.*165T>G (n.*165T>G)
16g.27362482T=CA2215169421IL4Rc.1130T= (p.Val377=)
c.1085T= (p.Val362=)
c.230-1621T= (n.230-1621T=)
n.540T=
c.*1173T= (n.*1173T=)
c.650T= (p.Val217=)
c.239T= (p.Val80=)
c.179T= (p.Val60=)
c.863T= (p.Val288=)
c.833T= (p.Val278=)
c.707T= (p.Val236=)
c.*165T= (n.*165T=)
16g.27362482_27362488delinsTAGAGGACA2215169423IL4Rc.1130_1136delinsTAGAGGA (p.Val377=)
c.1085_1091delinsTAGAGGA (p.Val362=)
c.230-1621_230-1615delinsTAGAGGA (n.230-1621_230-1615delinsTAGAGGA)
c.*1173_*1179delinsTAGAGGA (n.*1173_*1179delinsTAGAGGA)
c.650_656delinsTAGAGGA (p.Val217=)
c.239_245delinsTAGAGGA (p.Val80=)
c.179_185delinsTAGAGGA (p.Val60=)
c.863_869delinsTAGAGGA (p.Val288=)
c.833_839delinsTAGAGGA (p.Val278=)
c.707_713delinsTAGAGGA (p.Val236=)
c.*165_*171delinsTAGAGGA (n.*165_*171delinsTAGAGGA)
16g.27362483A>CCA494470819IL4Rc.1131A>C (p.Val377=)
c.1086A>C (p.Val362=)
c.230-1620A>C (n.230-1620A>C)
n.541A>C
c.*1174A>C (n.*1174A>C)
c.651A>C (p.Val217=)
c.240A>C (p.Val80=)
c.180A>C (p.Val60=)
c.864A>C (p.Val288=)
c.834A>C (p.Val278=)
c.708A>C (p.Val236=)
c.*166A>C (n.*166A>C)
16g.27362483A>GCA494470818IL4Rc.1131A>G (p.Val377=)
c.1086A>G (p.Val362=)
c.230-1620A>G (n.230-1620A>G)
n.541A>G
c.*1174A>G (n.*1174A>G)
c.651A>G (p.Val217=)
c.240A>G (p.Val80=)
c.180A>G (p.Val60=)
c.864A>G (p.Val288=)
c.834A>G (p.Val278=)
c.708A>G (p.Val236=)
c.*166A>G (n.*166A>G)
16g.27362483A>TCA494470817IL4Rc.1131A>T (p.Val377=)
c.1086A>T (p.Val362=)
c.230-1620A>T (n.230-1620A>T)
n.541A>T
c.*1174A>T (n.*1174A>T)
c.651A>T (p.Val217=)
c.240A>T (p.Val80=)
c.180A>T (p.Val60=)
c.864A>T (p.Val288=)
c.834A>T (p.Val278=)
c.708A>T (p.Val236=)
c.*166A>T (n.*166A>T)
16g.27362486_27362491delCA621769810IL4Rc.1134_1139del (p.Glu379_Glu380del)
c.1089_1094del (p.Glu364_Glu365del)
c.230-1617_230-1612del (n.230-1617_230-1612del)
c.*1177_*1182del (n.*1177_*1182del)
c.654_659del (p.Glu219_Glu220del)
c.243_248del (p.Glu82_Glu83del)
c.183_188del (p.Glu62_Glu63del)
c.867_872del (p.Glu290_Glu291del)
c.837_842del (p.Glu280_Glu281del)
c.711_716del (p.Glu238_Glu239del)
c.*169_*174del (n.*169_*174del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362484G>ACA395297780IL4Rc.1132G>A (p.Glu378Lys)
c.1087G>A (p.Glu363Lys)
c.230-1619G>A (n.230-1619G>A)
c.*1175G>A (n.*1175G>A)
c.652G>A (p.Glu218Lys)
c.241G>A (p.Glu81Lys)
c.181G>A (p.Glu61Lys)
c.865G>A (p.Glu289Lys)
c.835G>A (p.Glu279Lys)
c.709G>A (p.Glu237Lys)
c.*167G>A (n.*167G>A)
16g.27362484G>CCA395297778IL4Rc.1132G>C (p.Glu378Gln)
c.1087G>C (p.Glu363Gln)
c.230-1619G>C (n.230-1619G>C)
c.*1175G>C (n.*1175G>C)
c.652G>C (p.Glu218Gln)
c.241G>C (p.Glu81Gln)
c.181G>C (p.Glu61Gln)
c.865G>C (p.Glu289Gln)
c.835G>C (p.Glu279Gln)
c.709G>C (p.Glu237Gln)
c.*167G>C (n.*167G>C)
16g.27362484G>TCA395297776IL4Rc.1132G>T (p.Glu378Ter)
c.1087G>T (p.Glu363Ter)
c.230-1619G>T (n.230-1619G>T)
c.*1175G>T (n.*1175G>T)
c.652G>T (p.Glu218Ter)
c.241G>T (p.Glu81Ter)
c.181G>T (p.Glu61Ter)
c.865G>T (p.Glu289Ter)
c.835G>T (p.Glu279Ter)
c.709G>T (p.Glu237Ter)
c.*167G>T (n.*167G>T)
16g.27362485A>CCA395297783IL4Rc.1133A>C (p.Glu378Ala)
c.1088A>C (p.Glu363Ala)
c.230-1618A>C (n.230-1618A>C)
c.*1176A>C (n.*1176A>C)
c.653A>C (p.Glu218Ala)
c.242A>C (p.Glu81Ala)
c.182A>C (p.Glu61Ala)
c.866A>C (p.Glu289Ala)
c.836A>C (p.Glu279Ala)
c.710A>C (p.Glu237Ala)
c.*168A>C (n.*168A>C)
16g.27362485A>GCA395297785IL4Rc.1133A>G (p.Glu378Gly)
c.1088A>G (p.Glu363Gly)
c.230-1618A>G (n.230-1618A>G)
c.*1176A>G (n.*1176A>G)
c.653A>G (p.Glu218Gly)
c.242A>G (p.Glu81Gly)
c.182A>G (p.Glu61Gly)
c.866A>G (p.Glu289Gly)
c.836A>G (p.Glu279Gly)
c.710A>G (p.Glu237Gly)
c.*168A>G (n.*168A>G)
16g.27362485A>TCA395297787IL4Rc.1133A>T (p.Glu378Val)
c.1088A>T (p.Glu363Val)
c.230-1618A>T (n.230-1618A>T)
c.*1176A>T (n.*1176A>T)
c.653A>T (p.Glu218Val)
c.242A>T (p.Glu81Val)
c.182A>T (p.Glu61Val)
c.866A>T (p.Glu289Val)
c.836A>T (p.Glu279Val)
c.710A>T (p.Glu237Val)
c.*168A>T (n.*168A>T)
 gnomAD v4
16g.27362486G>ACA7974497IL4Rc.1134G>A (p.Glu378=)
c.1089G>A (p.Glu363=)
c.230-1617G>A (n.230-1617G>A)
c.*1177G>A (n.*1177G>A)
c.654G>A (p.Glu218=)
c.243G>A (p.Glu81=)
c.183G>A (p.Glu61=)
c.867G>A (p.Glu289=)
c.837G>A (p.Glu279=)
c.711G>A (p.Glu237=)
c.*169G>A (n.*169G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362486G>CCA395297791IL4Rc.1134G>C (p.Glu378Asp)
c.1089G>C (p.Glu363Asp)
c.230-1617G>C (n.230-1617G>C)
c.*1177G>C (n.*1177G>C)
c.654G>C (p.Glu218Asp)
c.243G>C (p.Glu81Asp)
c.183G>C (p.Glu61Asp)
c.867G>C (p.Glu289Asp)
c.837G>C (p.Glu279Asp)
c.711G>C (p.Glu237Asp)
c.*169G>C (n.*169G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.27362486G=CA2215169428IL4Rc.1134G= (p.Glu378=)
c.1089G= (p.Glu363=)
c.230-1617G= (n.230-1617G=)
c.*1177G= (n.*1177G=)
c.654G= (p.Glu218=)
c.243G= (p.Glu81=)
c.183G= (p.Glu61=)
c.867G= (p.Glu289=)
c.837G= (p.Glu279=)
c.711G= (p.Glu237=)
c.*169G= (n.*169G=)
16g.27362486G>TCA395297793IL4Rc.1134G>T (p.Glu378Asp)
c.1089G>T (p.Glu363Asp)
c.230-1617G>T (n.230-1617G>T)
c.*1177G>T (n.*1177G>T)
c.654G>T (p.Glu218Asp)
c.243G>T (p.Glu81Asp)
c.183G>T (p.Glu61Asp)
c.867G>T (p.Glu289Asp)
c.837G>T (p.Glu279Asp)
c.711G>T (p.Glu237Asp)
c.*169G>T (n.*169G>T)
16g.27362487G>ACA395297796IL4Rc.1135G>A (p.Glu379Lys)
c.1090G>A (p.Glu364Lys)
c.230-1616G>A (n.230-1616G>A)
c.*1178G>A (n.*1178G>A)
c.655G>A (p.Glu219Lys)
c.244G>A (p.Glu82Lys)
c.184G>A (p.Glu62Lys)
c.868G>A (p.Glu290Lys)
c.838G>A (p.Glu280Lys)
c.712G>A (p.Glu238Lys)
c.*170G>A (n.*170G>A)
16g.27362487G>CCA395297800IL4Rc.1135G>C (p.Glu379Gln)
c.1090G>C (p.Glu364Gln)
c.230-1616G>C (n.230-1616G>C)
c.*1178G>C (n.*1178G>C)
c.655G>C (p.Glu219Gln)
c.244G>C (p.Glu82Gln)
c.184G>C (p.Glu62Gln)
c.868G>C (p.Glu290Gln)
c.838G>C (p.Glu280Gln)
c.712G>C (p.Glu238Gln)
c.*170G>C (n.*170G>C)
16g.27362487G>TCA395297798IL4Rc.1135G>T (p.Glu379Ter)
c.1090G>T (p.Glu364Ter)
c.230-1616G>T (n.230-1616G>T)
c.*1178G>T (n.*1178G>T)
c.655G>T (p.Glu219Ter)
c.244G>T (p.Glu82Ter)
c.184G>T (p.Glu62Ter)
c.868G>T (p.Glu290Ter)
c.838G>T (p.Glu280Ter)
c.712G>T (p.Glu238Ter)
c.*170G>T (n.*170G>T)
16g.27362488A>CCA395297802IL4Rc.1136A>C (p.Glu379Ala)
c.1091A>C (p.Glu364Ala)
c.230-1615A>C (n.230-1615A>C)
c.*1179A>C (n.*1179A>C)
c.656A>C (p.Glu219Ala)
c.245A>C (p.Glu82Ala)
c.185A>C (p.Glu62Ala)
c.869A>C (p.Glu290Ala)
c.839A>C (p.Glu280Ala)
c.713A>C (p.Glu238Ala)
c.*171A>C (n.*171A>C)
16g.27362488A>GCA395297803IL4Rc.1136A>G (p.Glu379Gly)
c.1091A>G (p.Glu364Gly)
c.230-1615A>G (n.230-1615A>G)
c.*1179A>G (n.*1179A>G)
c.656A>G (p.Glu219Gly)
c.245A>G (p.Glu82Gly)
c.185A>G (p.Glu62Gly)
c.869A>G (p.Glu290Gly)
c.839A>G (p.Glu280Gly)
c.713A>G (p.Glu238Gly)
c.*171A>G (n.*171A>G)
16g.27362488A>TCA395297804IL4Rc.1136A>T (p.Glu379Val)
c.1091A>T (p.Glu364Val)
c.230-1615A>T (n.230-1615A>T)
c.*1179A>T (n.*1179A>T)
c.656A>T (p.Glu219Val)
c.245A>T (p.Glu82Val)
c.185A>T (p.Glu62Val)
c.869A>T (p.Glu290Val)
c.839A>T (p.Glu280Val)
c.713A>T (p.Glu238Val)
c.*171A>T (n.*171A>T)
16g.27362489A>CCA395297805IL4Rc.1137A>C (p.Glu379Asp)
c.1092A>C (p.Glu364Asp)
c.230-1614A>C (n.230-1614A>C)
c.*1180A>C (n.*1180A>C)
c.657A>C (p.Glu219Asp)
c.246A>C (p.Glu82Asp)
c.186A>C (p.Glu62Asp)
c.870A>C (p.Glu290Asp)
c.840A>C (p.Glu280Asp)
c.714A>C (p.Glu238Asp)
c.*172A>C (n.*172A>C)
16g.27362489A>GCA494470837IL4Rc.1137A>G (p.Glu379=)
c.1092A>G (p.Glu364=)
c.230-1614A>G (n.230-1614A>G)
c.*1180A>G (n.*1180A>G)
c.657A>G (p.Glu219=)
c.246A>G (p.Glu82=)
c.186A>G (p.Glu62=)
c.870A>G (p.Glu290=)
c.840A>G (p.Glu280=)
c.714A>G (p.Glu238=)
c.*172A>G (n.*172A>G)
16g.27362489A>TCA395297806IL4Rc.1137A>T (p.Glu379Asp)
c.1092A>T (p.Glu364Asp)
c.230-1614A>T (n.230-1614A>T)
c.*1180A>T (n.*1180A>T)
c.657A>T (p.Glu219Asp)
c.246A>T (p.Glu82Asp)
c.186A>T (p.Glu62Asp)
c.870A>T (p.Glu290Asp)
c.840A>T (p.Glu280Asp)
c.714A>T (p.Glu238Asp)
c.*172A>T (n.*172A>T)
16g.27362490G>ACA395297807IL4Rc.1138G>A (p.Glu380Lys)
c.1093G>A (p.Glu365Lys)
c.230-1613G>A (n.230-1613G>A)
c.*1181G>A (n.*1181G>A)
c.658G>A (p.Glu220Lys)
c.247G>A (p.Glu83Lys)
c.187G>A (p.Glu63Lys)
c.871G>A (p.Glu291Lys)
c.841G>A (p.Glu281Lys)
c.715G>A (p.Glu239Lys)
c.*173G>A (n.*173G>A)
16g.27362490G>CCA395297808IL4Rc.1138G>C (p.Glu380Gln)
c.1093G>C (p.Glu365Gln)
c.230-1613G>C (n.230-1613G>C)
c.*1181G>C (n.*1181G>C)
c.658G>C (p.Glu220Gln)
c.247G>C (p.Glu83Gln)
c.187G>C (p.Glu63Gln)
c.871G>C (p.Glu291Gln)
c.841G>C (p.Glu281Gln)
c.715G>C (p.Glu239Gln)
c.*173G>C (n.*173G>C)
 gnomAD v4
16g.27362490G>TCA395297809IL4Rc.1138G>T (p.Glu380Ter)
c.1093G>T (p.Glu365Ter)
c.230-1613G>T (n.230-1613G>T)
c.*1181G>T (n.*1181G>T)
c.658G>T (p.Glu220Ter)
c.247G>T (p.Glu83Ter)
c.187G>T (p.Glu63Ter)
c.871G>T (p.Glu291Ter)
c.841G>T (p.Glu281Ter)
c.715G>T (p.Glu239Ter)
c.*173G>T (n.*173G>T)
16g.27362491A>CCA395297810IL4Rc.1139A>C (p.Glu380Ala)
c.1094A>C (p.Glu365Ala)
c.230-1612A>C (n.230-1612A>C)
c.*1182A>C (n.*1182A>C)
c.659A>C (p.Glu220Ala)
c.248A>C (p.Glu83Ala)
c.188A>C (p.Glu63Ala)
c.872A>C (p.Glu291Ala)
c.842A>C (p.Glu281Ala)
c.716A>C (p.Glu239Ala)
c.*174A>C (n.*174A>C)
16g.27362491A>GCA395297811IL4Rc.1139A>G (p.Glu380Gly)
c.1094A>G (p.Glu365Gly)
c.230-1612A>G (n.230-1612A>G)
c.*1182A>G (n.*1182A>G)
c.659A>G (p.Glu220Gly)
c.248A>G (p.Glu83Gly)
c.188A>G (p.Glu63Gly)
c.872A>G (p.Glu291Gly)
c.842A>G (p.Glu281Gly)
c.716A>G (p.Glu239Gly)
c.*174A>G (n.*174A>G)
16g.27362491A>TCA395297812IL4Rc.1139A>T (p.Glu380Val)
c.1094A>T (p.Glu365Val)
c.230-1612A>T (n.230-1612A>T)
c.*1182A>T (n.*1182A>T)
c.659A>T (p.Glu220Val)
c.248A>T (p.Glu83Val)
c.188A>T (p.Glu63Val)
c.872A>T (p.Glu291Val)
c.842A>T (p.Glu281Val)
c.716A>T (p.Glu239Val)
c.*174A>T (n.*174A>T)
 gnomAD v4
16g.27362491_27362499dupCA2632431241IL4Rc.1139_1147dup (p.Gly382_Ser383insLysLysGly)
c.1094_1102dup (p.Gly367_Ser368insLysLysGly)
c.230-1612_230-1604dup (n.230-1612_230-1604dup)
c.*1182_*1190dup (n.*1182_*1190dup)
c.659_667dup (p.Gly222_Ser223insLysLysGly)
c.248_256dup (p.Gly85_Ser86insLysLysGly)
c.188_196dup (p.Gly65_Ser66insLysLysGly)
c.872_880dup (p.Gly293_Ser294insLysLysGly)
c.842_850dup (p.Gly283_Ser284insLysLysGly)
c.716_724dup (p.Gly241_Ser242insLysLysGly)
c.*174_*182dup (n.*174_*182dup)
 gnomAD v4
16g.27362492A>CCA395297813IL4Rc.1140A>C (p.Glu380Asp)
c.1095A>C (p.Glu365Asp)
c.230-1611A>C (n.230-1611A>C)
c.*1183A>C (n.*1183A>C)
c.660A>C (p.Glu220Asp)
c.249A>C (p.Glu83Asp)
c.189A>C (p.Glu63Asp)
c.873A>C (p.Glu291Asp)
c.843A>C (p.Glu281Asp)
c.717A>C (p.Glu239Asp)
c.*175A>C (n.*175A>C)
16g.27362492A>GCA494470845IL4Rc.1140A>G (p.Glu380=)
c.1095A>G (p.Glu365=)
c.230-1611A>G (n.230-1611A>G)
c.*1183A>G (n.*1183A>G)
c.660A>G (p.Glu220=)
c.249A>G (p.Glu83=)
c.189A>G (p.Glu63=)
c.873A>G (p.Glu291=)
c.843A>G (p.Glu281=)
c.717A>G (p.Glu239=)
c.*175A>G (n.*175A>G)
16g.27362492A>TCA395297814IL4Rc.1140A>T (p.Glu380Asp)
c.1095A>T (p.Glu365Asp)
c.230-1611A>T (n.230-1611A>T)
c.*1183A>T (n.*1183A>T)
c.660A>T (p.Glu220Asp)
c.249A>T (p.Glu83Asp)
c.189A>T (p.Glu63Asp)
c.873A>T (p.Glu291Asp)
c.843A>T (p.Glu281Asp)
c.717A>T (p.Glu239Asp)
c.*175A>T (n.*175A>T)
16g.27362493A>CCA395297815IL4Rc.1141A>C (p.Lys381Gln)
c.1096A>C (p.Lys366Gln)
c.230-1610A>C (n.230-1610A>C)
c.*1184A>C (n.*1184A>C)
c.661A>C (p.Lys221Gln)
c.250A>C (p.Lys84Gln)
c.190A>C (p.Lys64Gln)
c.874A>C (p.Lys292Gln)
c.844A>C (p.Lys282Gln)
c.718A>C (p.Lys240Gln)
c.*176A>C (n.*176A>C)
16g.27362493A>GCA395297816IL4Rc.1141A>G (p.Lys381Glu)
c.1096A>G (p.Lys366Glu)
c.230-1610A>G (n.230-1610A>G)
c.*1184A>G (n.*1184A>G)
c.661A>G (p.Lys221Glu)
c.250A>G (p.Lys84Glu)
c.190A>G (p.Lys64Glu)
c.874A>G (p.Lys292Glu)
c.844A>G (p.Lys282Glu)
c.718A>G (p.Lys240Glu)
c.*176A>G (n.*176A>G)
16g.27362493A>TCA395297817IL4Rc.1141A>T (p.Lys381Ter)
c.1096A>T (p.Lys366Ter)
c.230-1610A>T (n.230-1610A>T)
c.*1184A>T (n.*1184A>T)
c.661A>T (p.Lys221Ter)
c.250A>T (p.Lys84Ter)
c.190A>T (p.Lys64Ter)
c.874A>T (p.Lys292Ter)
c.844A>T (p.Lys282Ter)
c.718A>T (p.Lys240Ter)
c.*176A>T (n.*176A>T)
16g.27362494A>CCA395297818IL4Rc.1142A>C (p.Lys381Thr)
c.1097A>C (p.Lys366Thr)
c.230-1609A>C (n.230-1609A>C)
c.*1185A>C (n.*1185A>C)
c.662A>C (p.Lys221Thr)
c.251A>C (p.Lys84Thr)
c.191A>C (p.Lys64Thr)
c.875A>C (p.Lys292Thr)
c.845A>C (p.Lys282Thr)
c.719A>C (p.Lys240Thr)
c.*177A>C (n.*177A>C)
16g.27362494A>GCA395297819IL4Rc.1142A>G (p.Lys381Arg)
c.1097A>G (p.Lys366Arg)
c.230-1609A>G (n.230-1609A>G)
c.*1185A>G (n.*1185A>G)
c.662A>G (p.Lys221Arg)
c.251A>G (p.Lys84Arg)
c.191A>G (p.Lys64Arg)
c.875A>G (p.Lys292Arg)
c.845A>G (p.Lys282Arg)
c.719A>G (p.Lys240Arg)
c.*177A>G (n.*177A>G)
16g.27362494A>TCA395297820IL4Rc.1142A>T (p.Lys381Ile)
c.1097A>T (p.Lys366Ile)
c.230-1609A>T (n.230-1609A>T)
c.*1185A>T (n.*1185A>T)
c.662A>T (p.Lys221Ile)
c.251A>T (p.Lys84Ile)
c.191A>T (p.Lys64Ile)
c.875A>T (p.Lys292Ile)
c.845A>T (p.Lys282Ile)
c.719A>T (p.Lys240Ile)
c.*177A>T (n.*177A>T)
16g.27362495A>CCA395297821IL4Rc.1143A>C (p.Lys381Asn)
c.1098A>C (p.Lys366Asn)
c.230-1608A>C (n.230-1608A>C)
c.*1186A>C (n.*1186A>C)
c.663A>C (p.Lys221Asn)
c.252A>C (p.Lys84Asn)
c.192A>C (p.Lys64Asn)
c.876A>C (p.Lys292Asn)
c.846A>C (p.Lys282Asn)
c.720A>C (p.Lys240Asn)
c.*178A>C (n.*178A>C)
16g.27362495A>GCA494470854IL4Rc.1143A>G (p.Lys381=)
c.1098A>G (p.Lys366=)
c.230-1608A>G (n.230-1608A>G)
c.*1186A>G (n.*1186A>G)
c.663A>G (p.Lys221=)
c.252A>G (p.Lys84=)
c.192A>G (p.Lys64=)
c.876A>G (p.Lys292=)
c.846A>G (p.Lys282=)
c.720A>G (p.Lys240=)
c.*178A>G (n.*178A>G)
16g.27362495A>TCA395297822IL4Rc.1143A>T (p.Lys381Asn)
c.1098A>T (p.Lys366Asn)
c.230-1608A>T (n.230-1608A>T)
c.*1186A>T (n.*1186A>T)
c.663A>T (p.Lys221Asn)
c.252A>T (p.Lys84Asn)
c.192A>T (p.Lys64Asn)
c.876A>T (p.Lys292Asn)
c.846A>T (p.Lys282Asn)
c.720A>T (p.Lys240Asn)
c.*178A>T (n.*178A>T)
16g.27362496G>ACA7974498IL4Rc.1144G>A (p.Gly382Arg)
c.1099G>A (p.Gly367Arg)
c.230-1607G>A (n.230-1607G>A)
c.*1187G>A (n.*1187G>A)
c.664G>A (p.Gly222Arg)
c.253G>A (p.Gly85Arg)
c.193G>A (p.Gly65Arg)
c.877G>A (p.Gly293Arg)
c.847G>A (p.Gly283Arg)
c.721G>A (p.Gly241Arg)
c.*179G>A (n.*179G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362496G>CCA395297823IL4Rc.1144G>C (p.Gly382Arg)
c.1099G>C (p.Gly367Arg)
c.230-1607G>C (n.230-1607G>C)
c.*1187G>C (n.*1187G>C)
c.664G>C (p.Gly222Arg)
c.253G>C (p.Gly85Arg)
c.193G>C (p.Gly65Arg)
c.877G>C (p.Gly293Arg)
c.847G>C (p.Gly283Arg)
c.721G>C (p.Gly241Arg)
c.*179G>C (n.*179G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362496G=CA2215169429IL4Rc.1144G= (p.Gly382=)
c.1099G= (p.Gly367=)
c.230-1607G= (n.230-1607G=)
c.*1187G= (n.*1187G=)
c.664G= (p.Gly222=)
c.253G= (p.Gly85=)
c.193G= (p.Gly65=)
c.877G= (p.Gly293=)
c.847G= (p.Gly283=)
c.721G= (p.Gly241=)
c.*179G= (n.*179G=)
16g.27362496G>TCA395297824IL4Rc.1144G>T (p.Gly382Trp)
c.1099G>T (p.Gly367Trp)
c.230-1607G>T (n.230-1607G>T)
c.*1187G>T (n.*1187G>T)
c.664G>T (p.Gly222Trp)
c.253G>T (p.Gly85Trp)
c.193G>T (p.Gly65Trp)
c.877G>T (p.Gly293Trp)
c.847G>T (p.Gly283Trp)
c.721G>T (p.Gly241Trp)
c.*179G>T (n.*179G>T)
16g.27362498delCA2731986803IL4Rc.1146del (p.Ser383AlafsTer24)
c.1101del (p.Ser368AlafsTer24)
c.230-1605del (n.230-1605del)
c.*1189del (n.*1189del)
c.666del (p.Ser223AlafsTer24)
c.255del (p.Ser86AlafsTer24)
c.195del (p.Ser66AlafsTer24)
c.879del (p.Ser294AlafsTer24)
c.849del (p.Ser284AlafsTer24)
c.723del (p.Ser242AlafsTer24)
c.*181del (n.*181del)
 dbSNP
16g.27362497G>ACA395297825IL4Rc.1145G>A (p.Gly382Glu)
c.1100G>A (p.Gly367Glu)
c.230-1606G>A (n.230-1606G>A)
c.*1188G>A (n.*1188G>A)
c.665G>A (p.Gly222Glu)
c.254G>A (p.Gly85Glu)
c.194G>A (p.Gly65Glu)
c.878G>A (p.Gly293Glu)
c.848G>A (p.Gly283Glu)
c.722G>A (p.Gly241Glu)
c.*180G>A (n.*180G>A)
16g.27362497G>CCA395297826IL4Rc.1145G>C (p.Gly382Ala)
c.1100G>C (p.Gly367Ala)
c.230-1606G>C (n.230-1606G>C)
c.*1188G>C (n.*1188G>C)
c.665G>C (p.Gly222Ala)
c.254G>C (p.Gly85Ala)
c.194G>C (p.Gly65Ala)
c.878G>C (p.Gly293Ala)
c.848G>C (p.Gly283Ala)
c.722G>C (p.Gly241Ala)
c.*180G>C (n.*180G>C)
16g.27362497G>TCA395297827IL4Rc.1145G>T (p.Gly382Val)
c.1100G>T (p.Gly367Val)
c.230-1606G>T (n.230-1606G>T)
c.*1188G>T (n.*1188G>T)
c.665G>T (p.Gly222Val)
c.254G>T (p.Gly85Val)
c.194G>T (p.Gly65Val)
c.878G>T (p.Gly293Val)
c.848G>T (p.Gly283Val)
c.722G>T (p.Gly241Val)
c.*180G>T (n.*180G>T)
16g.27362498G>ACA7974499IL4Rc.1146G>A (p.Gly382=)
c.1101G>A (p.Gly367=)
c.230-1605G>A (n.230-1605G>A)
c.*1189G>A (n.*1189G>A)
c.666G>A (p.Gly222=)
c.255G>A (p.Gly85=)
c.195G>A (p.Gly65=)
c.879G>A (p.Gly293=)
c.849G>A (p.Gly283=)
c.723G>A (p.Gly241=)
c.*181G>A (n.*181G>A)
 dbSNP ExAC gnomAD v2
16g.27362498G>CCA494470862IL4Rc.1146G>C (p.Gly382=)
c.1101G>C (p.Gly367=)
c.230-1605G>C (n.230-1605G>C)
c.*1189G>C (n.*1189G>C)
c.666G>C (p.Gly222=)
c.255G>C (p.Gly85=)
c.195G>C (p.Gly65=)
c.879G>C (p.Gly293=)
c.849G>C (p.Gly283=)
c.723G>C (p.Gly241=)
c.*181G>C (n.*181G>C)
16g.27362498G=CA2215169430IL4Rc.1146G= (p.Gly382=)
c.1101G= (p.Gly367=)
c.230-1605G= (n.230-1605G=)
c.*1189G= (n.*1189G=)
c.666G= (p.Gly222=)
c.255G= (p.Gly85=)
c.195G= (p.Gly65=)
c.879G= (p.Gly293=)
c.849G= (p.Gly283=)
c.723G= (p.Gly241=)
c.*181G= (n.*181G=)
16g.27362498G>TCA494470864IL4Rc.1146G>T (p.Gly382=)
c.1101G>T (p.Gly367=)
c.230-1605G>T (n.230-1605G>T)
c.*1189G>T (n.*1189G>T)
c.666G>T (p.Gly222=)
c.255G>T (p.Gly85=)
c.195G>T (p.Gly65=)
c.879G>T (p.Gly293=)
c.849G>T (p.Gly283=)
c.723G>T (p.Gly241=)
c.*181G>T (n.*181G>T)
16g.27362499A>CCA395297828IL4Rc.1147A>C (p.Ser383Arg)
c.1102A>C (p.Ser368Arg)
c.230-1604A>C (n.230-1604A>C)
c.*1190A>C (n.*1190A>C)
c.667A>C (p.Ser223Arg)
c.256A>C (p.Ser86Arg)
c.196A>C (p.Ser66Arg)
c.880A>C (p.Ser294Arg)
c.850A>C (p.Ser284Arg)
c.724A>C (p.Ser242Arg)
c.*182A>C (n.*182A>C)
16g.27362499A>GCA395297829IL4Rc.1147A>G (p.Ser383Gly)
c.1102A>G (p.Ser368Gly)
c.230-1604A>G (n.230-1604A>G)
c.*1190A>G (n.*1190A>G)
c.667A>G (p.Ser223Gly)
c.256A>G (p.Ser86Gly)
c.196A>G (p.Ser66Gly)
c.880A>G (p.Ser294Gly)
c.850A>G (p.Ser284Gly)
c.724A>G (p.Ser242Gly)
c.*182A>G (n.*182A>G)
16g.27362499A>TCA395297830IL4Rc.1147A>T (p.Ser383Cys)
c.1102A>T (p.Ser368Cys)
c.230-1604A>T (n.230-1604A>T)
c.*1190A>T (n.*1190A>T)
c.667A>T (p.Ser223Cys)
c.256A>T (p.Ser86Cys)
c.196A>T (p.Ser66Cys)
c.880A>T (p.Ser294Cys)
c.850A>T (p.Ser284Cys)
c.724A>T (p.Ser242Cys)
c.*182A>T (n.*182A>T)
 gnomAD v4
16g.27362500G>ACA395297831IL4Rc.1148G>A (p.Ser383Asn)
c.1103G>A (p.Ser368Asn)
c.230-1603G>A (n.230-1603G>A)
c.*1191G>A (n.*1191G>A)
c.668G>A (p.Ser223Asn)
c.257G>A (p.Ser86Asn)
c.197G>A (p.Ser66Asn)
c.881G>A (p.Ser294Asn)
c.851G>A (p.Ser284Asn)
c.725G>A (p.Ser242Asn)
c.*183G>A (n.*183G>A)
16g.27362500G>CCA395297832IL4Rc.1148G>C (p.Ser383Thr)
c.1103G>C (p.Ser368Thr)
c.230-1603G>C (n.230-1603G>C)
c.*1191G>C (n.*1191G>C)
c.668G>C (p.Ser223Thr)
c.257G>C (p.Ser86Thr)
c.197G>C (p.Ser66Thr)
c.881G>C (p.Ser294Thr)
c.851G>C (p.Ser284Thr)
c.725G>C (p.Ser242Thr)
c.*183G>C (n.*183G>C)
16g.27362500G>TCA395297833IL4Rc.1148G>T (p.Ser383Ile)
c.1103G>T (p.Ser368Ile)
c.230-1603G>T (n.230-1603G>T)
c.*1191G>T (n.*1191G>T)
c.668G>T (p.Ser223Ile)
c.257G>T (p.Ser86Ile)
c.197G>T (p.Ser66Ile)
c.881G>T (p.Ser294Ile)
c.851G>T (p.Ser284Ile)
c.725G>T (p.Ser242Ile)
c.*183G>T (n.*183G>T)
16g.27362501C>ACA395297834IL4Rc.1149C>A (p.Ser383Arg)
c.1104C>A (p.Ser368Arg)
c.230-1602C>A (n.230-1602C>A)
c.*1192C>A (n.*1192C>A)
c.669C>A (p.Ser223Arg)
c.258C>A (p.Ser86Arg)
c.198C>A (p.Ser66Arg)
c.882C>A (p.Ser294Arg)
c.852C>A (p.Ser284Arg)
c.726C>A (p.Ser242Arg)
c.*184C>A (n.*184C>A)
16g.27362501C>GCA395297835IL4Rc.1149C>G (p.Ser383Arg)
c.1104C>G (p.Ser368Arg)
c.230-1602C>G (n.230-1602C>G)
c.*1192C>G (n.*1192C>G)
c.669C>G (p.Ser223Arg)
c.258C>G (p.Ser86Arg)
c.198C>G (p.Ser66Arg)
c.882C>G (p.Ser294Arg)
c.852C>G (p.Ser284Arg)
c.726C>G (p.Ser242Arg)
c.*184C>G (n.*184C>G)
16g.27362501C>TCA494470871IL4Rc.1149C>T (p.Ser383=)
c.1104C>T (p.Ser368=)
c.230-1602C>T (n.230-1602C>T)
c.*1192C>T (n.*1192C>T)
c.669C>T (p.Ser223=)
c.258C>T (p.Ser86=)
c.198C>T (p.Ser66=)
c.882C>T (p.Ser294=)
c.852C>T (p.Ser284=)
c.726C>T (p.Ser242=)
c.*184C>T (n.*184C>T)
16g.27362502T>ACA395297836IL4Rc.1150T>A (p.Phe384Ile)
c.1105T>A (p.Phe369Ile)
c.230-1601T>A (n.230-1601T>A)
c.*1193T>A (n.*1193T>A)
c.670T>A (p.Phe224Ile)
c.259T>A (p.Phe87Ile)
c.199T>A (p.Phe67Ile)
c.883T>A (p.Phe295Ile)
c.853T>A (p.Phe285Ile)
c.727T>A (p.Phe243Ile)
c.*185T>A (n.*185T>A)
16g.27362502T>CCA395297837IL4Rc.1150T>C (p.Phe384Leu)
c.1105T>C (p.Phe369Leu)
c.230-1601T>C (n.230-1601T>C)
c.*1193T>C (n.*1193T>C)
c.670T>C (p.Phe224Leu)
c.259T>C (p.Phe87Leu)
c.199T>C (p.Phe67Leu)
c.883T>C (p.Phe295Leu)
c.853T>C (p.Phe285Leu)
c.727T>C (p.Phe243Leu)
c.*185T>C (n.*185T>C)
 gnomAD v4
16g.27362502T>GCA395297838IL4Rc.1150T>G (p.Phe384Val)
c.1105T>G (p.Phe369Val)
c.230-1601T>G (n.230-1601T>G)
c.*1193T>G (n.*1193T>G)
c.670T>G (p.Phe224Val)
c.259T>G (p.Phe87Val)
c.199T>G (p.Phe67Val)
c.883T>G (p.Phe295Val)
c.853T>G (p.Phe285Val)
c.727T>G (p.Phe243Val)
c.*185T>G (n.*185T>G)
16g.27362503T>ACA395297839IL4Rc.1151T>A (p.Phe384Tyr)
c.1106T>A (p.Phe369Tyr)
c.230-1600T>A (n.230-1600T>A)
c.*1194T>A (n.*1194T>A)
c.671T>A (p.Phe224Tyr)
c.260T>A (p.Phe87Tyr)
c.200T>A (p.Phe67Tyr)
c.884T>A (p.Phe295Tyr)
c.854T>A (p.Phe285Tyr)
c.728T>A (p.Phe243Tyr)
c.*186T>A (n.*186T>A)
 COSMIC
16g.27362503T>CCA395297840IL4Rc.1151T>C (p.Phe384Ser)
c.1106T>C (p.Phe369Ser)
c.230-1600T>C (n.230-1600T>C)
c.*1194T>C (n.*1194T>C)
c.671T>C (p.Phe224Ser)
c.260T>C (p.Phe87Ser)
c.200T>C (p.Phe67Ser)
c.884T>C (p.Phe295Ser)
c.854T>C (p.Phe285Ser)
c.728T>C (p.Phe243Ser)
c.*186T>C (n.*186T>C)
16g.27362503T>GCA395297841IL4Rc.1151T>G (p.Phe384Cys)
c.1106T>G (p.Phe369Cys)
c.230-1600T>G (n.230-1600T>G)
c.*1194T>G (n.*1194T>G)
c.671T>G (p.Phe224Cys)
c.260T>G (p.Phe87Cys)
c.200T>G (p.Phe67Cys)
c.884T>G (p.Phe295Cys)
c.854T>G (p.Phe285Cys)
c.728T>G (p.Phe243Cys)
c.*186T>G (n.*186T>G)
16g.27362504C>ACA395297842IL4Rc.1152C>A (p.Phe384Leu)
c.1107C>A (p.Phe369Leu)
c.230-1599C>A (n.230-1599C>A)
c.*1195C>A (n.*1195C>A)
c.672C>A (p.Phe224Leu)
c.261C>A (p.Phe87Leu)
c.201C>A (p.Phe67Leu)
c.885C>A (p.Phe295Leu)
c.855C>A (p.Phe285Leu)
c.729C>A (p.Phe243Leu)
c.*187C>A (n.*187C>A)
16g.27362504C>GCA395297843IL4Rc.1152C>G (p.Phe384Leu)
c.1107C>G (p.Phe369Leu)
c.230-1599C>G (n.230-1599C>G)
c.*1195C>G (n.*1195C>G)
c.672C>G (p.Phe224Leu)
c.261C>G (p.Phe87Leu)
c.201C>G (p.Phe67Leu)
c.885C>G (p.Phe295Leu)
c.855C>G (p.Phe285Leu)
c.729C>G (p.Phe243Leu)
c.*187C>G (n.*187C>G)
16g.27362504C>TCA494470874IL4Rc.1152C>T (p.Phe384=)
c.1107C>T (p.Phe369=)
c.230-1599C>T (n.230-1599C>T)
c.*1195C>T (n.*1195C>T)
c.672C>T (p.Phe224=)
c.261C>T (p.Phe87=)
c.201C>T (p.Phe67=)
c.885C>T (p.Phe295=)
c.855C>T (p.Phe285=)
c.729C>T (p.Phe243=)
c.*187C>T (n.*187C>T)
16g.27362505T>ACA395297844IL4Rc.1153T>A (p.Cys385Ser)
c.1108T>A (p.Cys370Ser)
c.230-1598T>A (n.230-1598T>A)
c.*1196T>A (n.*1196T>A)
c.673T>A (p.Cys225Ser)
c.262T>A (p.Cys88Ser)
c.202T>A (p.Cys68Ser)
c.886T>A (p.Cys296Ser)
c.856T>A (p.Cys286Ser)
c.730T>A (p.Cys244Ser)
c.*188T>A (n.*188T>A)
16g.27362505T>CCA395297846IL4Rc.1153T>C (p.Cys385Arg)
c.1108T>C (p.Cys370Arg)
c.230-1598T>C (n.230-1598T>C)
c.*1196T>C (n.*1196T>C)
c.673T>C (p.Cys225Arg)
c.262T>C (p.Cys88Arg)
c.202T>C (p.Cys68Arg)
c.886T>C (p.Cys296Arg)
c.856T>C (p.Cys286Arg)
c.730T>C (p.Cys244Arg)
c.*188T>C (n.*188T>C)
16g.27362505T>GCA395297845IL4Rc.1153T>G (p.Cys385Gly)
c.1108T>G (p.Cys370Gly)
c.230-1598T>G (n.230-1598T>G)
c.*1196T>G (n.*1196T>G)
c.673T>G (p.Cys225Gly)
c.262T>G (p.Cys88Gly)
c.202T>G (p.Cys68Gly)
c.886T>G (p.Cys296Gly)
c.856T>G (p.Cys286Gly)
c.730T>G (p.Cys244Gly)
c.*188T>G (n.*188T>G)
16g.27362506G>ACA395297847IL4Rc.1154G>A (p.Cys385Tyr)
c.1109G>A (p.Cys370Tyr)
c.230-1597G>A (n.230-1597G>A)
c.*1197G>A (n.*1197G>A)
c.674G>A (p.Cys225Tyr)
c.263G>A (p.Cys88Tyr)
c.203G>A (p.Cys68Tyr)
c.887G>A (p.Cys296Tyr)
c.857G>A (p.Cys286Tyr)
c.731G>A (p.Cys244Tyr)
c.*189G>A (n.*189G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362506G>CCA395297848IL4Rc.1154G>C (p.Cys385Ser)
c.1109G>C (p.Cys370Ser)
c.230-1597G>C (n.230-1597G>C)
c.*1197G>C (n.*1197G>C)
c.674G>C (p.Cys225Ser)
c.263G>C (p.Cys88Ser)
c.203G>C (p.Cys68Ser)
c.887G>C (p.Cys296Ser)
c.857G>C (p.Cys286Ser)
c.731G>C (p.Cys244Ser)
c.*189G>C (n.*189G>C)
16g.27362506G=CA2215169431IL4Rc.1154G= (p.Cys385=)
c.1109G= (p.Cys370=)
c.230-1597G= (n.230-1597G=)
c.*1197G= (n.*1197G=)
c.674G= (p.Cys225=)
c.263G= (p.Cys88=)
c.203G= (p.Cys68=)
c.887G= (p.Cys296=)
c.857G= (p.Cys286=)
c.731G= (p.Cys244=)
c.*189G= (n.*189G=)
16g.27362506G>TCA395297849IL4Rc.1154G>T (p.Cys385Phe)
c.1109G>T (p.Cys370Phe)
c.230-1597G>T (n.230-1597G>T)
c.*1197G>T (n.*1197G>T)
c.674G>T (p.Cys225Phe)
c.263G>T (p.Cys88Phe)
c.203G>T (p.Cys68Phe)
c.887G>T (p.Cys296Phe)
c.857G>T (p.Cys286Phe)
c.731G>T (p.Cys244Phe)
c.*189G>T (n.*189G>T)
16g.27362507T>ACA395297850IL4Rc.1155T>A (p.Cys385Ter)
c.1110T>A (p.Cys370Ter)
c.230-1596T>A (n.230-1596T>A)
c.*1198T>A (n.*1198T>A)
c.675T>A (p.Cys225Ter)
c.264T>A (p.Cys88Ter)
c.204T>A (p.Cys68Ter)
c.888T>A (p.Cys296Ter)
c.858T>A (p.Cys286Ter)
c.732T>A (p.Cys244Ter)
c.*190T>A (n.*190T>A)
16g.27362507T>CCA494470888IL4Rc.1155T>C (p.Cys385=)
c.1110T>C (p.Cys370=)
c.230-1596T>C (n.230-1596T>C)
c.*1198T>C (n.*1198T>C)
c.675T>C (p.Cys225=)
c.264T>C (p.Cys88=)
c.204T>C (p.Cys68=)
c.888T>C (p.Cys296=)
c.858T>C (p.Cys286=)
c.732T>C (p.Cys244=)
c.*190T>C (n.*190T>C)
16g.27362507T>GCA395297851IL4Rc.1155T>G (p.Cys385Trp)
c.1110T>G (p.Cys370Trp)
c.230-1596T>G (n.230-1596T>G)
c.*1198T>G (n.*1198T>G)
c.675T>G (p.Cys225Trp)
c.264T>G (p.Cys88Trp)
c.204T>G (p.Cys68Trp)
c.888T>G (p.Cys296Trp)
c.858T>G (p.Cys286Trp)
c.732T>G (p.Cys244Trp)
c.*190T>G (n.*190T>G)
16g.27362508G>ACA395297852IL4Rc.1156G>A (p.Ala386Thr)
c.1111G>A (p.Ala371Thr)
c.230-1595G>A (n.230-1595G>A)
c.*1199G>A (n.*1199G>A)
c.676G>A (p.Ala226Thr)
c.265G>A (p.Ala89Thr)
c.205G>A (p.Ala69Thr)
c.889G>A (p.Ala297Thr)
c.859G>A (p.Ala287Thr)
c.733G>A (p.Ala245Thr)
c.*191G>A (n.*191G>A)
 gnomAD v4
16g.27362508G>CCA395297853IL4Rc.1156G>C (p.Ala386Pro)
c.1111G>C (p.Ala371Pro)
c.230-1595G>C (n.230-1595G>C)
c.*1199G>C (n.*1199G>C)
c.676G>C (p.Ala226Pro)
c.265G>C (p.Ala89Pro)
c.205G>C (p.Ala69Pro)
c.889G>C (p.Ala297Pro)
c.859G>C (p.Ala287Pro)
c.733G>C (p.Ala245Pro)
c.*191G>C (n.*191G>C)
16g.27362508G>TCA395297854IL4Rc.1156G>T (p.Ala386Ser)
c.1111G>T (p.Ala371Ser)
c.230-1595G>T (n.230-1595G>T)
c.*1199G>T (n.*1199G>T)
c.676G>T (p.Ala226Ser)
c.265G>T (p.Ala89Ser)
c.205G>T (p.Ala69Ser)
c.889G>T (p.Ala297Ser)
c.859G>T (p.Ala287Ser)
c.733G>T (p.Ala245Ser)
c.*191G>T (n.*191G>T)
16g.27362509C>ACA395297855IL4Rc.1157C>A (p.Ala386Glu)
c.1112C>A (p.Ala371Glu)
c.230-1594C>A (n.230-1594C>A)
c.*1200C>A (n.*1200C>A)
c.677C>A (p.Ala226Glu)
c.266C>A (p.Ala89Glu)
c.206C>A (p.Ala69Glu)
c.890C>A (p.Ala297Glu)
c.860C>A (p.Ala287Glu)
c.734C>A (p.Ala245Glu)
c.*192C>A (n.*192C>A)
16g.27362509C>GCA395297856IL4Rc.1157C>G (p.Ala386Gly)
c.1112C>G (p.Ala371Gly)
c.230-1594C>G (n.230-1594C>G)
c.*1200C>G (n.*1200C>G)
c.677C>G (p.Ala226Gly)
c.266C>G (p.Ala89Gly)
c.206C>G (p.Ala69Gly)
c.890C>G (p.Ala297Gly)
c.860C>G (p.Ala287Gly)
c.734C>G (p.Ala245Gly)
c.*192C>G (n.*192C>G)
16g.27362509C>TCA395297857IL4Rc.1157C>T (p.Ala386Val)
c.1112C>T (p.Ala371Val)
c.230-1594C>T (n.230-1594C>T)
c.*1200C>T (n.*1200C>T)
c.677C>T (p.Ala226Val)
c.266C>T (p.Ala89Val)
c.206C>T (p.Ala69Val)
c.890C>T (p.Ala297Val)
c.860C>T (p.Ala287Val)
c.734C>T (p.Ala245Val)
c.*192C>T (n.*192C>T)
16g.27362510A=CA2215169433IL4Rc.1158A= (p.Ala386=)
c.1113A= (p.Ala371=)
c.230-1593A= (n.230-1593A=)
c.*1201A= (n.*1201A=)
c.678A= (p.Ala226=)
c.267A= (p.Ala89=)
c.207A= (p.Ala69=)
c.891A= (p.Ala297=)
c.861A= (p.Ala287=)
c.735A= (p.Ala245=)
c.*193A= (n.*193A=)
16g.27362510A>CCA494470902IL4Rc.1158A>C (p.Ala386=)
c.1113A>C (p.Ala371=)
c.230-1593A>C (n.230-1593A>C)
c.*1201A>C (n.*1201A>C)
c.678A>C (p.Ala226=)
c.267A>C (p.Ala89=)
c.207A>C (p.Ala69=)
c.891A>C (p.Ala297=)
c.861A>C (p.Ala287=)
c.735A>C (p.Ala245=)
c.*193A>C (n.*193A>C)
16g.27362510A>GCA7974500IL4Rc.1158A>G (p.Ala386=)
c.1113A>G (p.Ala371=)
c.230-1593A>G (n.230-1593A>G)
c.*1201A>G (n.*1201A>G)
c.678A>G (p.Ala226=)
c.267A>G (p.Ala89=)
c.207A>G (p.Ala69=)
c.891A>G (p.Ala297=)
c.861A>G (p.Ala287=)
c.735A>G (p.Ala245=)
c.*193A>G (n.*193A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362510A>TCA494470900IL4Rc.1158A>T (p.Ala386=)
c.1113A>T (p.Ala371=)
c.230-1593A>T (n.230-1593A>T)
c.*1201A>T (n.*1201A>T)
c.678A>T (p.Ala226=)
c.267A>T (p.Ala89=)
c.207A>T (p.Ala69=)
c.891A>T (p.Ala297=)
c.861A>T (p.Ala287=)
c.735A>T (p.Ala245=)
c.*193A>T (n.*193A>T)
16g.27362511T>ACA395297858IL4Rc.1159T>A (p.Ser387Thr)
c.1114T>A (p.Ser372Thr)
c.230-1592T>A (n.230-1592T>A)
c.*1202T>A (n.*1202T>A)
c.679T>A (p.Ser227Thr)
c.268T>A (p.Ser90Thr)
c.208T>A (p.Ser70Thr)
c.892T>A (p.Ser298Thr)
c.862T>A (p.Ser288Thr)
c.736T>A (p.Ser246Thr)
c.*194T>A (n.*194T>A)
16g.27362511T>CCA395297860IL4Rc.1159T>C (p.Ser387Pro)
c.1114T>C (p.Ser372Pro)
c.230-1592T>C (n.230-1592T>C)
c.*1202T>C (n.*1202T>C)
c.679T>C (p.Ser227Pro)
c.268T>C (p.Ser90Pro)
c.208T>C (p.Ser70Pro)
c.892T>C (p.Ser298Pro)
c.862T>C (p.Ser288Pro)
c.736T>C (p.Ser246Pro)
c.*194T>C (n.*194T>C)
16g.27362511T>GCA395297859IL4Rc.1159T>G (p.Ser387Ala)
c.1114T>G (p.Ser372Ala)
c.230-1592T>G (n.230-1592T>G)
c.*1202T>G (n.*1202T>G)
c.679T>G (p.Ser227Ala)
c.268T>G (p.Ser90Ala)
c.208T>G (p.Ser70Ala)
c.892T>G (p.Ser298Ala)
c.862T>G (p.Ser288Ala)
c.736T>G (p.Ser246Ala)
c.*194T>G (n.*194T>G)
16g.27362512C>ACA395297861IL4Rc.1160C>A (p.Ser387Ter)
c.1115C>A (p.Ser372Ter)
c.230-1591C>A (n.230-1591C>A)
c.*1203C>A (n.*1203C>A)
c.680C>A (p.Ser227Ter)
c.269C>A (p.Ser90Ter)
c.209C>A (p.Ser70Ter)
c.893C>A (p.Ser298Ter)
c.863C>A (p.Ser288Ter)
c.737C>A (p.Ser246Ter)
c.*195C>A (n.*195C>A)
16g.27362512C=CA2215169437IL4Rc.1160C= (p.Ser387=)
c.1115C= (p.Ser372=)
c.230-1591C= (n.230-1591C=)
c.*1203C= (n.*1203C=)
c.680C= (p.Ser227=)
c.269C= (p.Ser90=)
c.209C= (p.Ser70=)
c.893C= (p.Ser298=)
c.863C= (p.Ser288=)
c.737C= (p.Ser246=)
c.*195C= (n.*195C=)
16g.27362512C>GCA395297862IL4Rc.1160C>G (p.Ser387Trp)
c.1115C>G (p.Ser372Trp)
c.230-1591C>G (n.230-1591C>G)
c.*1203C>G (n.*1203C>G)
c.680C>G (p.Ser227Trp)
c.269C>G (p.Ser90Trp)
c.209C>G (p.Ser70Trp)
c.893C>G (p.Ser298Trp)
c.863C>G (p.Ser288Trp)
c.737C>G (p.Ser246Trp)
c.*195C>G (n.*195C>G)
 gnomAD v4
16g.27362512C>TCA7974501IL4Rc.1160C>T (p.Ser387Leu)
c.1115C>T (p.Ser372Leu)
c.230-1591C>T (n.230-1591C>T)
c.*1203C>T (n.*1203C>T)
c.680C>T (p.Ser227Leu)
c.269C>T (p.Ser90Leu)
c.209C>T (p.Ser70Leu)
c.893C>T (p.Ser298Leu)
c.863C>T (p.Ser288Leu)
c.737C>T (p.Ser246Leu)
c.*195C>T (n.*195C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362513G>ACA7974502IL4Rc.1161G>A (p.Ser387=)
c.1116G>A (p.Ser372=)
c.230-1590G>A (n.230-1590G>A)
c.*1204G>A (n.*1204G>A)
c.681G>A (p.Ser227=)
c.270G>A (p.Ser90=)
c.210G>A (p.Ser70=)
c.894G>A (p.Ser298=)
c.864G>A (p.Ser288=)
c.738G>A (p.Ser246=)
c.*196G>A (n.*196G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.27362513G>CCA494470908IL4Rc.1161G>C (p.Ser387=)
c.1116G>C (p.Ser372=)
c.230-1590G>C (n.230-1590G>C)
c.*1204G>C (n.*1204G>C)
c.681G>C (p.Ser227=)
c.270G>C (p.Ser90=)
c.210G>C (p.Ser70=)
c.894G>C (p.Ser298=)
c.864G>C (p.Ser288=)
c.738G>C (p.Ser246=)
c.*196G>C (n.*196G>C)
16g.27362513G=CA2215169443IL4Rc.1161G= (p.Ser387=)
c.1116G= (p.Ser372=)
c.230-1590G= (n.230-1590G=)
c.*1204G= (n.*1204G=)
c.681G= (p.Ser227=)
c.270G= (p.Ser90=)
c.210G= (p.Ser70=)
c.894G= (p.Ser298=)
c.864G= (p.Ser288=)
c.738G= (p.Ser246=)
c.*196G= (n.*196G=)
16g.27362513G>TCA494470912IL4Rc.1161G>T (p.Ser387=)
c.1116G>T (p.Ser372=)
c.230-1590G>T (n.230-1590G>T)
c.*1204G>T (n.*1204G>T)
c.681G>T (p.Ser227=)
c.270G>T (p.Ser90=)
c.210G>T (p.Ser70=)
c.894G>T (p.Ser298=)
c.864G>T (p.Ser288=)
c.738G>T (p.Ser246=)
c.*196G>T (n.*196G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.27362514C>ACA395297863IL4Rc.1162C>A (p.Pro388Thr)
c.1117C>A (p.Pro373Thr)
c.230-1589C>A (n.230-1589C>A)
c.*1205C>A (n.*1205C>A)
c.682C>A (p.Pro228Thr)
c.271C>A (p.Pro91Thr)
c.211C>A (p.Pro71Thr)
c.895C>A (p.Pro299Thr)
c.865C>A (p.Pro289Thr)
c.739C>A (p.Pro247Thr)
c.*197C>A (n.*197C>A)
16g.27362514C=CA2215169448IL4Rc.1162C= (p.Pro388=)
c.1117C= (p.Pro373=)
c.230-1589C= (n.230-1589C=)
c.*1205C= (n.*1205C=)
c.682C= (p.Pro228=)
c.271C= (p.Pro91=)
c.211C= (p.Pro71=)
c.895C= (p.Pro299=)
c.865C= (p.Pro289=)
c.739C= (p.Pro247=)
c.*197C= (n.*197C=)
16g.27362514C>GCA395297864IL4Rc.1162C>G (p.Pro388Ala)
c.1117C>G (p.Pro373Ala)
c.230-1589C>G (n.230-1589C>G)
c.*1205C>G (n.*1205C>G)
c.682C>G (p.Pro228Ala)
c.271C>G (p.Pro91Ala)
c.211C>G (p.Pro71Ala)
c.895C>G (p.Pro299Ala)
c.865C>G (p.Pro289Ala)
c.739C>G (p.Pro247Ala)
c.*197C>G (n.*197C>G)
16g.27362514C>TCA395297865IL4Rc.1162C>T (p.Pro388Ser)
c.1117C>T (p.Pro373Ser)
c.230-1589C>T (n.230-1589C>T)
c.*1205C>T (n.*1205C>T)
c.682C>T (p.Pro228Ser)
c.271C>T (p.Pro91Ser)
c.211C>T (p.Pro71Ser)
c.895C>T (p.Pro299Ser)
c.865C>T (p.Pro289Ser)
c.739C>T (p.Pro247Ser)
c.*197C>T (n.*197C>T)
 dbSNP gnomAD v4
16g.27362515C>ACA395297866IL4Rc.1163C>A (p.Pro388His)
c.1118C>A (p.Pro373His)
c.230-1588C>A (n.230-1588C>A)
c.*1206C>A (n.*1206C>A)
c.683C>A (p.Pro228His)
c.272C>A (p.Pro91His)
c.212C>A (p.Pro71His)
c.896C>A (p.Pro299His)
c.866C>A (p.Pro289His)
c.740C>A (p.Pro247His)
c.*198C>A (n.*198C>A)
16g.27362515C>GCA395297867IL4Rc.1163C>G (p.Pro388Arg)
c.1118C>G (p.Pro373Arg)
c.230-1588C>G (n.230-1588C>G)
c.*1206C>G (n.*1206C>G)
c.683C>G (p.Pro228Arg)
c.272C>G (p.Pro91Arg)
c.212C>G (p.Pro71Arg)
c.896C>G (p.Pro299Arg)
c.866C>G (p.Pro289Arg)
c.740C>G (p.Pro247Arg)
c.*198C>G (n.*198C>G)
16g.27362515C>TCA395297868IL4Rc.1163C>T (p.Pro388Leu)
c.1118C>T (p.Pro373Leu)
c.230-1588C>T (n.230-1588C>T)
c.*1206C>T (n.*1206C>T)
c.683C>T (p.Pro228Leu)
c.272C>T (p.Pro91Leu)
c.212C>T (p.Pro71Leu)
c.896C>T (p.Pro299Leu)
c.866C>T (p.Pro289Leu)
c.740C>T (p.Pro247Leu)
c.*198C>T (n.*198C>T)
16g.27362516T>ACA494470925IL4Rc.1164T>A (p.Pro388=)
c.1119T>A (p.Pro373=)
c.230-1587T>A (n.230-1587T>A)
c.*1207T>A (n.*1207T>A)
c.684T>A (p.Pro228=)
c.273T>A (p.Pro91=)
c.213T>A (p.Pro71=)
c.897T>A (p.Pro299=)
c.867T>A (p.Pro289=)
c.741T>A (p.Pro247=)
c.*199T>A (n.*199T>A)
16g.27362516T>CCA494470919IL4Rc.1164T>C (p.Pro388=)
c.1119T>C (p.Pro373=)
c.230-1587T>C (n.230-1587T>C)
c.*1207T>C (n.*1207T>C)
c.684T>C (p.Pro228=)
c.273T>C (p.Pro91=)
c.213T>C (p.Pro71=)
c.897T>C (p.Pro299=)
c.867T>C (p.Pro289=)
c.741T>C (p.Pro247=)
c.*199T>C (n.*199T>C)
16g.27362516T>GCA494470922IL4Rc.1164T>G (p.Pro388=)
c.1119T>G (p.Pro373=)
c.230-1587T>G (n.230-1587T>G)
c.*1207T>G (n.*1207T>G)
c.684T>G (p.Pro228=)
c.273T>G (p.Pro91=)
c.213T>G (p.Pro71=)
c.897T>G (p.Pro299=)
c.867T>G (p.Pro289=)
c.741T>G (p.Pro247=)
c.*199T>G (n.*199T>G)
16g.27362517G>ACA395297870IL4Rc.1165G>A (p.Glu389Lys)
c.1120G>A (p.Glu374Lys)
c.230-1586G>A (n.230-1586G>A)
c.*1208G>A (n.*1208G>A)
c.685G>A (p.Glu229Lys)
c.274G>A (p.Glu92Lys)
c.214G>A (p.Glu72Lys)
c.898G>A (p.Glu300Lys)
c.868G>A (p.Glu290Lys)
c.742G>A (p.Glu248Lys)
c.*200G>A (n.*200G>A)
16g.27362517G>CCA395297871IL4Rc.1165G>C (p.Glu389Gln)
c.1120G>C (p.Glu374Gln)
c.230-1586G>C (n.230-1586G>C)
c.*1208G>C (n.*1208G>C)
c.685G>C (p.Glu229Gln)
c.274G>C (p.Glu92Gln)
c.214G>C (p.Glu72Gln)
c.898G>C (p.Glu300Gln)
c.868G>C (p.Glu290Gln)
c.742G>C (p.Glu248Gln)
c.*200G>C (n.*200G>C)
16g.27362517G>TCA395297869IL4Rc.1165G>T (p.Glu389Ter)
c.1120G>T (p.Glu374Ter)
c.230-1586G>T (n.230-1586G>T)
c.*1208G>T (n.*1208G>T)
c.685G>T (p.Glu229Ter)
c.274G>T (p.Glu92Ter)
c.214G>T (p.Glu72Ter)
c.898G>T (p.Glu300Ter)
c.868G>T (p.Glu290Ter)
c.742G>T (p.Glu248Ter)
c.*200G>T (n.*200G>T)
16g.27362518A>CCA395297872IL4Rc.1166A>C (p.Glu389Ala)
c.1121A>C (p.Glu374Ala)
c.230-1585A>C (n.230-1585A>C)
c.*1209A>C (n.*1209A>C)
c.686A>C (p.Glu229Ala)
c.275A>C (p.Glu92Ala)
c.215A>C (p.Glu72Ala)
c.899A>C (p.Glu300Ala)
c.869A>C (p.Glu290Ala)
c.743A>C (p.Glu248Ala)
c.*201A>C (n.*201A>C)
 gnomAD v4
16g.27362518A>GCA395297873IL4Rc.1166A>G (p.Glu389Gly)
c.1121A>G (p.Glu374Gly)
c.230-1585A>G (n.230-1585A>G)
c.*1209A>G (n.*1209A>G)
c.686A>G (p.Glu229Gly)
c.275A>G (p.Glu92Gly)
c.215A>G (p.Glu72Gly)
c.899A>G (p.Glu300Gly)
c.869A>G (p.Glu290Gly)
c.743A>G (p.Glu248Gly)
c.*201A>G (n.*201A>G)
16g.27362518A>TCA395297874IL4Rc.1166A>T (p.Glu389Val)
c.1121A>T (p.Glu374Val)
c.230-1585A>T (n.230-1585A>T)
c.*1209A>T (n.*1209A>T)
c.686A>T (p.Glu229Val)
c.275A>T (p.Glu92Val)
c.215A>T (p.Glu72Val)
c.899A>T (p.Glu300Val)
c.869A>T (p.Glu290Val)
c.743A>T (p.Glu248Val)
c.*201A>T (n.*201A>T)
16g.27362519G>ACA494470926IL4Rc.1167G>A (p.Glu389=)
c.1122G>A (p.Glu374=)
c.230-1584G>A (n.230-1584G>A)
c.*1210G>A (n.*1210G>A)
c.687G>A (p.Glu229=)
c.276G>A (p.Glu92=)
c.216G>A (p.Glu72=)
c.900G>A (p.Glu300=)
c.870G>A (p.Glu290=)
c.744G>A (p.Glu248=)
c.*202G>A (n.*202G>A)
16g.27362519G>CCA395297875IL4Rc.1167G>C (p.Glu389Asp)
c.1122G>C (p.Glu374Asp)
c.230-1584G>C (n.230-1584G>C)
c.*1210G>C (n.*1210G>C)
c.687G>C (p.Glu229Asp)
c.276G>C (p.Glu92Asp)
c.216G>C (p.Glu72Asp)
c.900G>C (p.Glu300Asp)
c.870G>C (p.Glu290Asp)
c.744G>C (p.Glu248Asp)
c.*202G>C (n.*202G>C)
16g.27362519G>TCA395297876IL4Rc.1167G>T (p.Glu389Asp)
c.1122G>T (p.Glu374Asp)
c.230-1584G>T (n.230-1584G>T)
c.*1210G>T (n.*1210G>T)
c.687G>T (p.Glu229Asp)
c.276G>T (p.Glu92Asp)
c.216G>T (p.Glu72Asp)
c.900G>T (p.Glu300Asp)
c.870G>T (p.Glu290Asp)
c.744G>T (p.Glu248Asp)
c.*202G>T (n.*202G>T)
16g.27362520A>CCA395297877IL4Rc.1168A>C (p.Ser390Arg)
c.1123A>C (p.Ser375Arg)
c.230-1583A>C (n.230-1583A>C)
c.*1211A>C (n.*1211A>C)
c.688A>C (p.Ser230Arg)
c.277A>C (p.Ser93Arg)
c.217A>C (p.Ser73Arg)
c.901A>C (p.Ser301Arg)
c.871A>C (p.Ser291Arg)
c.745A>C (p.Ser249Arg)
c.*203A>C (n.*203A>C)
16g.27362520A>GCA395297878IL4Rc.1168A>G (p.Ser390Gly)
c.1123A>G (p.Ser375Gly)
c.230-1583A>G (n.230-1583A>G)
c.*1211A>G (n.*1211A>G)
c.688A>G (p.Ser230Gly)
c.277A>G (p.Ser93Gly)
c.217A>G (p.Ser73Gly)
c.901A>G (p.Ser301Gly)
c.871A>G (p.Ser291Gly)
c.745A>G (p.Ser249Gly)
c.*203A>G (n.*203A>G)
16g.27362520A>TCA395297879IL4Rc.1168A>T (p.Ser390Cys)
c.1123A>T (p.Ser375Cys)
c.230-1583A>T (n.230-1583A>T)
c.*1211A>T (n.*1211A>T)
c.688A>T (p.Ser230Cys)
c.277A>T (p.Ser93Cys)
c.217A>T (p.Ser73Cys)
c.901A>T (p.Ser301Cys)
c.871A>T (p.Ser291Cys)
c.745A>T (p.Ser249Cys)
c.*203A>T (n.*203A>T)
16g.27362521G>ACA395297880IL4Rc.1169G>A (p.Ser390Asn)
c.1124G>A (p.Ser375Asn)
c.230-1582G>A (n.230-1582G>A)
c.*1212G>A (n.*1212G>A)
c.689G>A (p.Ser230Asn)
c.278G>A (p.Ser93Asn)
c.218G>A (p.Ser73Asn)
c.902G>A (p.Ser301Asn)
c.872G>A (p.Ser291Asn)
c.746G>A (p.Ser249Asn)
c.*204G>A (n.*204G>A)
16g.27362521G>CCA395297881IL4Rc.1169G>C (p.Ser390Thr)
c.1124G>C (p.Ser375Thr)
c.230-1582G>C (n.230-1582G>C)
c.*1212G>C (n.*1212G>C)
c.689G>C (p.Ser230Thr)
c.278G>C (p.Ser93Thr)
c.218G>C (p.Ser73Thr)
c.902G>C (p.Ser301Thr)
c.872G>C (p.Ser291Thr)
c.746G>C (p.Ser249Thr)
c.*204G>C (n.*204G>C)
16g.27362521G>TCA395297882IL4Rc.1169G>T (p.Ser390Ile)
c.1124G>T (p.Ser375Ile)
c.230-1582G>T (n.230-1582G>T)
c.*1212G>T (n.*1212G>T)
c.689G>T (p.Ser230Ile)
c.278G>T (p.Ser93Ile)
c.218G>T (p.Ser73Ile)
c.902G>T (p.Ser301Ile)
c.872G>T (p.Ser291Ile)
c.746G>T (p.Ser249Ile)
c.*204G>T (n.*204G>T)
16g.27362522C>ACA395297883IL4Rc.1170C>A (p.Ser390Arg)
c.1125C>A (p.Ser375Arg)
c.230-1581C>A (n.230-1581C>A)
c.*1213C>A (n.*1213C>A)
c.690C>A (p.Ser230Arg)
c.279C>A (p.Ser93Arg)
c.219C>A (p.Ser73Arg)
c.903C>A (p.Ser301Arg)
c.873C>A (p.Ser291Arg)
c.747C>A (p.Ser249Arg)
c.*205C>A (n.*205C>A)
16g.27362522C=CA2215169449IL4Rc.1170C= (p.Ser390=)
c.1125C= (p.Ser375=)
c.230-1581C= (n.230-1581C=)
c.*1213C= (n.*1213C=)
c.690C= (p.Ser230=)
c.279C= (p.Ser93=)
c.219C= (p.Ser73=)
c.903C= (p.Ser301=)
c.873C= (p.Ser291=)
c.747C= (p.Ser249=)
c.*205C= (n.*205C=)
16g.27362522C>GCA7974503IL4Rc.1170C>G (p.Ser390Arg)
c.1125C>G (p.Ser375Arg)
c.230-1581C>G (n.230-1581C>G)
c.*1213C>G (n.*1213C>G)
c.690C>G (p.Ser230Arg)
c.279C>G (p.Ser93Arg)
c.219C>G (p.Ser73Arg)
c.903C>G (p.Ser301Arg)
c.873C>G (p.Ser291Arg)
c.747C>G (p.Ser249Arg)
c.*205C>G (n.*205C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362522C>TCA494470933IL4Rc.1170C>T (p.Ser390=)
c.1125C>T (p.Ser375=)
c.230-1581C>T (n.230-1581C>T)
c.*1213C>T (n.*1213C>T)
c.690C>T (p.Ser230=)
c.279C>T (p.Ser93=)
c.219C>T (p.Ser73=)
c.903C>T (p.Ser301=)
c.873C>T (p.Ser291=)
c.747C>T (p.Ser249=)
c.*205C>T (n.*205C>T)
16g.27362523A=CA2215169450IL4Rc.1171A= (p.Ser391=)
c.1126A= (p.Ser376=)
c.230-1580A= (n.230-1580A=)
c.*1214A= (n.*1214A=)
c.691A= (p.Ser231=)
c.280A= (p.Ser94=)
c.220A= (p.Ser74=)
c.904A= (p.Ser302=)
c.874A= (p.Ser292=)
c.748A= (p.Ser250=)
c.*206A= (n.*206A=)
16g.27362523A>CCA395297886IL4Rc.1171A>C (p.Ser391Arg)
c.1126A>C (p.Ser376Arg)
c.230-1580A>C (n.230-1580A>C)
c.*1214A>C (n.*1214A>C)
c.691A>C (p.Ser231Arg)
c.280A>C (p.Ser94Arg)
c.220A>C (p.Ser74Arg)
c.904A>C (p.Ser302Arg)
c.874A>C (p.Ser292Arg)
c.748A>C (p.Ser250Arg)
c.*206A>C (n.*206A>C)
 dbSNP gnomAD v2 gnomAD v4
16g.27362523A>GCA395297885IL4Rc.1171A>G (p.Ser391Gly)
c.1126A>G (p.Ser376Gly)
c.230-1580A>G (n.230-1580A>G)
c.*1214A>G (n.*1214A>G)
c.691A>G (p.Ser231Gly)
c.280A>G (p.Ser94Gly)
c.220A>G (p.Ser74Gly)
c.904A>G (p.Ser302Gly)
c.874A>G (p.Ser292Gly)
c.748A>G (p.Ser250Gly)
c.*206A>G (n.*206A>G)
16g.27362523A>TCA395297884IL4Rc.1171A>T (p.Ser391Cys)
c.1126A>T (p.Ser376Cys)
c.230-1580A>T (n.230-1580A>T)
c.*1214A>T (n.*1214A>T)
c.691A>T (p.Ser231Cys)
c.280A>T (p.Ser94Cys)
c.220A>T (p.Ser74Cys)
c.904A>T (p.Ser302Cys)
c.874A>T (p.Ser292Cys)
c.748A>T (p.Ser250Cys)
c.*206A>T (n.*206A>T)
16g.27362524G>ACA395297887IL4Rc.1172G>A (p.Ser391Asn)
c.1127G>A (p.Ser376Asn)
c.230-1579G>A (n.230-1579G>A)
c.*1215G>A (n.*1215G>A)
c.692G>A (p.Ser231Asn)
c.281G>A (p.Ser94Asn)
c.221G>A (p.Ser74Asn)
c.905G>A (p.Ser302Asn)
c.875G>A (p.Ser292Asn)
c.749G>A (p.Ser250Asn)
c.*207G>A (n.*207G>A)
16g.27362524G>CCA395297888IL4Rc.1172G>C (p.Ser391Thr)
c.1127G>C (p.Ser376Thr)
c.230-1579G>C (n.230-1579G>C)
c.*1215G>C (n.*1215G>C)
c.692G>C (p.Ser231Thr)
c.281G>C (p.Ser94Thr)
c.221G>C (p.Ser74Thr)
c.905G>C (p.Ser302Thr)
c.875G>C (p.Ser292Thr)
c.749G>C (p.Ser250Thr)
c.*207G>C (n.*207G>C)
16g.27362524G>TCA395297889IL4Rc.1172G>T (p.Ser391Ile)
c.1127G>T (p.Ser376Ile)
c.230-1579G>T (n.230-1579G>T)
c.*1215G>T (n.*1215G>T)
c.692G>T (p.Ser231Ile)
c.281G>T (p.Ser94Ile)
c.221G>T (p.Ser74Ile)
c.905G>T (p.Ser302Ile)
c.875G>T (p.Ser292Ile)
c.749G>T (p.Ser250Ile)
c.*207G>T (n.*207G>T)
 gnomAD v4
16g.27362525C>ACA395297890IL4Rc.1173C>A (p.Ser391Arg)
c.1128C>A (p.Ser376Arg)
c.230-1578C>A (n.230-1578C>A)
c.*1216C>A (n.*1216C>A)
c.693C>A (p.Ser231Arg)
c.282C>A (p.Ser94Arg)
c.222C>A (p.Ser74Arg)
c.906C>A (p.Ser302Arg)
c.876C>A (p.Ser292Arg)
c.750C>A (p.Ser250Arg)
c.*208C>A (n.*208C>A)
16g.27362525C>GCA395297891IL4Rc.1173C>G (p.Ser391Arg)
c.1128C>G (p.Ser376Arg)
c.230-1578C>G (n.230-1578C>G)
c.*1216C>G (n.*1216C>G)
c.693C>G (p.Ser231Arg)
c.282C>G (p.Ser94Arg)
c.222C>G (p.Ser74Arg)
c.906C>G (p.Ser302Arg)
c.876C>G (p.Ser292Arg)
c.750C>G (p.Ser250Arg)
c.*208C>G (n.*208C>G)
16g.27362525C>TCA494470938IL4Rc.1173C>T (p.Ser391=)
c.1128C>T (p.Ser376=)
c.230-1578C>T (n.230-1578C>T)
c.*1216C>T (n.*1216C>T)
c.693C>T (p.Ser231=)
c.282C>T (p.Ser94=)
c.222C>T (p.Ser74=)
c.906C>T (p.Ser302=)
c.876C>T (p.Ser292=)
c.750C>T (p.Ser250=)
c.*208C>T (n.*208C>T)
16g.27362526A>CCA494470939IL4Rc.1174A>C (p.Arg392=)
c.1129A>C (p.Arg377=)
c.230-1577A>C (n.230-1577A>C)
c.*1217A>C (n.*1217A>C)
c.694A>C (p.Arg232=)
c.283A>C (p.Arg95=)
c.223A>C (p.Arg75=)
c.907A>C (p.Arg303=)
c.877A>C (p.Arg293=)
c.751A>C (p.Arg251=)
c.*209A>C (n.*209A>C)
16g.27362526A>GCA395297892IL4Rc.1174A>G (p.Arg392Gly)
c.1129A>G (p.Arg377Gly)
c.230-1577A>G (n.230-1577A>G)
c.*1217A>G (n.*1217A>G)
c.694A>G (p.Arg232Gly)
c.283A>G (p.Arg95Gly)
c.223A>G (p.Arg75Gly)
c.907A>G (p.Arg303Gly)
c.877A>G (p.Arg293Gly)
c.751A>G (p.Arg251Gly)
c.*209A>G (n.*209A>G)
16g.27362526A>TCA395297893IL4Rc.1174A>T (p.Arg392Trp)
c.1129A>T (p.Arg377Trp)
c.230-1577A>T (n.230-1577A>T)
c.*1217A>T (n.*1217A>T)
c.694A>T (p.Arg232Trp)
c.283A>T (p.Arg95Trp)
c.223A>T (p.Arg75Trp)
c.907A>T (p.Arg303Trp)
c.877A>T (p.Arg293Trp)
c.751A>T (p.Arg251Trp)
c.*209A>T (n.*209A>T)
16g.27362527G>ACA395297894IL4Rc.1175G>A (p.Arg392Lys)
c.1130G>A (p.Arg377Lys)
c.230-1576G>A (n.230-1576G>A)
c.*1218G>A (n.*1218G>A)
c.695G>A (p.Arg232Lys)
c.284G>A (p.Arg95Lys)
c.224G>A (p.Arg75Lys)
c.908G>A (p.Arg303Lys)
c.878G>A (p.Arg293Lys)
c.752G>A (p.Arg251Lys)
c.*210G>A (n.*210G>A)
16g.27362527G>CCA395297895IL4Rc.1175G>C (p.Arg392Thr)
c.1130G>C (p.Arg377Thr)
c.230-1576G>C (n.230-1576G>C)
c.*1218G>C (n.*1218G>C)
c.695G>C (p.Arg232Thr)
c.284G>C (p.Arg95Thr)
c.224G>C (p.Arg75Thr)
c.908G>C (p.Arg303Thr)
c.878G>C (p.Arg293Thr)
c.752G>C (p.Arg251Thr)
c.*210G>C (n.*210G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.27362527G=CA2215169452IL4Rc.1175G= (p.Arg392=)
c.1130G= (p.Arg377=)
c.230-1576G= (n.230-1576G=)
c.*1218G= (n.*1218G=)
c.695G= (p.Arg232=)
c.284G= (p.Arg95=)
c.224G= (p.Arg75=)
c.908G= (p.Arg303=)
c.878G= (p.Arg293=)
c.752G= (p.Arg251=)
c.*210G= (n.*210G=)
16g.27362527G>TCA395297896IL4Rc.1175G>T (p.Arg392Met)
c.1130G>T (p.Arg377Met)
c.230-1576G>T (n.230-1576G>T)
c.*1218G>T (n.*1218G>T)
c.695G>T (p.Arg232Met)
c.284G>T (p.Arg95Met)
c.224G>T (p.Arg75Met)
c.908G>T (p.Arg303Met)
c.878G>T (p.Arg293Met)
c.752G>T (p.Arg251Met)
c.*210G>T (n.*210G>T)
 gnomAD v4
16g.27362528G>ACA7974504IL4Rc.1176G>A (p.Arg392=)
c.1131G>A (p.Arg377=)
c.230-1575G>A (n.230-1575G>A)
c.*1219G>A (n.*1219G>A)
c.696G>A (p.Arg232=)
c.285G>A (p.Arg95=)
c.225G>A (p.Arg75=)
c.909G>A (p.Arg303=)
c.879G>A (p.Arg293=)
c.753G>A (p.Arg251=)
c.*211G>A (n.*211G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362528G>CCA395297897IL4Rc.1176G>C (p.Arg392Ser)
c.1131G>C (p.Arg377Ser)
c.230-1575G>C (n.230-1575G>C)
c.*1219G>C (n.*1219G>C)
c.696G>C (p.Arg232Ser)
c.285G>C (p.Arg95Ser)
c.225G>C (p.Arg75Ser)
c.909G>C (p.Arg303Ser)
c.879G>C (p.Arg293Ser)
c.753G>C (p.Arg251Ser)
c.*211G>C (n.*211G>C)
16g.27362528G=CA2215169456IL4Rc.1176G= (p.Arg392=)
c.1131G= (p.Arg377=)
c.230-1575G= (n.230-1575G=)
c.*1219G= (n.*1219G=)
c.696G= (p.Arg232=)
c.285G= (p.Arg95=)
c.225G= (p.Arg75=)
c.909G= (p.Arg303=)
c.879G= (p.Arg293=)
c.753G= (p.Arg251=)
c.*211G= (n.*211G=)
16g.27362528G>TCA279686428IL4Rc.1176G>T (p.Arg392Ser)
c.1131G>T (p.Arg377Ser)
c.230-1575G>T (n.230-1575G>T)
c.*1219G>T (n.*1219G>T)
c.696G>T (p.Arg232Ser)
c.285G>T (p.Arg95Ser)
c.225G>T (p.Arg75Ser)
c.909G>T (p.Arg303Ser)
c.879G>T (p.Arg293Ser)
c.753G>T (p.Arg251Ser)
c.*211G>T (n.*211G>T)
 dbSNP gnomAD v4
16g.27362529G>ACA395297900IL4Rc.1177G>A (p.Asp393Asn)
c.1132G>A (p.Asp378Asn)
c.230-1574G>A (n.230-1574G>A)
c.*1220G>A (n.*1220G>A)
c.697G>A (p.Asp233Asn)
c.286G>A (p.Asp96Asn)
c.226G>A (p.Asp76Asn)
c.910G>A (p.Asp304Asn)
c.880G>A (p.Asp294Asn)
c.754G>A (p.Asp252Asn)
c.*212G>A (n.*212G>A)
16g.27362529G>CCA395297899IL4Rc.1177G>C (p.Asp393His)
c.1132G>C (p.Asp378His)
c.230-1574G>C (n.230-1574G>C)
c.*1220G>C (n.*1220G>C)
c.697G>C (p.Asp233His)
c.286G>C (p.Asp96His)
c.226G>C (p.Asp76His)
c.910G>C (p.Asp304His)
c.880G>C (p.Asp294His)
c.754G>C (p.Asp252His)
c.*212G>C (n.*212G>C)
16g.27362529G>TCA395297898IL4Rc.1177G>T (p.Asp393Tyr)
c.1132G>T (p.Asp378Tyr)
c.230-1574G>T (n.230-1574G>T)
c.*1220G>T (n.*1220G>T)
c.697G>T (p.Asp233Tyr)
c.286G>T (p.Asp96Tyr)
c.226G>T (p.Asp76Tyr)
c.910G>T (p.Asp304Tyr)
c.880G>T (p.Asp294Tyr)
c.754G>T (p.Asp252Tyr)
c.*212G>T (n.*212G>T)
16g.27362530A>CCA395297901IL4Rc.1178A>C (p.Asp393Ala)
c.1133A>C (p.Asp378Ala)
c.230-1573A>C (n.230-1573A>C)
c.*1221A>C (n.*1221A>C)
c.698A>C (p.Asp233Ala)
c.287A>C (p.Asp96Ala)
c.227A>C (p.Asp76Ala)
c.911A>C (p.Asp304Ala)
c.881A>C (p.Asp294Ala)
c.755A>C (p.Asp252Ala)
c.*213A>C (n.*213A>C)
16g.27362530A>GCA395297903IL4Rc.1178A>G (p.Asp393Gly)
c.1133A>G (p.Asp378Gly)
c.230-1573A>G (n.230-1573A>G)
c.*1221A>G (n.*1221A>G)
c.698A>G (p.Asp233Gly)
c.287A>G (p.Asp96Gly)
c.227A>G (p.Asp76Gly)
c.911A>G (p.Asp304Gly)
c.881A>G (p.Asp294Gly)
c.755A>G (p.Asp252Gly)
c.*213A>G (n.*213A>G)
16g.27362530A>TCA395297902IL4Rc.1178A>T (p.Asp393Val)
c.1133A>T (p.Asp378Val)
c.230-1573A>T (n.230-1573A>T)
c.*1221A>T (n.*1221A>T)
c.698A>T (p.Asp233Val)
c.287A>T (p.Asp96Val)
c.227A>T (p.Asp76Val)
c.911A>T (p.Asp304Val)
c.881A>T (p.Asp294Val)
c.755A>T (p.Asp252Val)
c.*213A>T (n.*213A>T)
 ClinVar gnomAD v4
16g.27362531T>ACA395297904IL4Rc.1179T>A (p.Asp393Glu)
c.1134T>A (p.Asp378Glu)
c.230-1572T>A (n.230-1572T>A)
c.*1222T>A (n.*1222T>A)
c.699T>A (p.Asp233Glu)
c.288T>A (p.Asp96Glu)
c.228T>A (p.Asp76Glu)
c.912T>A (p.Asp304Glu)
c.882T>A (p.Asp294Glu)
c.756T>A (p.Asp252Glu)
c.*214T>A (n.*214T>A)
16g.27362531T>CCA494470945IL4Rc.1179T>C (p.Asp393=)
c.1134T>C (p.Asp378=)
c.230-1572T>C (n.230-1572T>C)
c.*1222T>C (n.*1222T>C)
c.699T>C (p.Asp233=)
c.288T>C (p.Asp96=)
c.228T>C (p.Asp76=)
c.912T>C (p.Asp304=)
c.882T>C (p.Asp294=)
c.756T>C (p.Asp252=)
c.*214T>C (n.*214T>C)
16g.27362531T>GCA395297905IL4Rc.1179T>G (p.Asp393Glu)
c.1134T>G (p.Asp378Glu)
c.230-1572T>G (n.230-1572T>G)
c.*1222T>G (n.*1222T>G)
c.699T>G (p.Asp233Glu)
c.288T>G (p.Asp96Glu)
c.228T>G (p.Asp76Glu)
c.912T>G (p.Asp304Glu)
c.882T>G (p.Asp294Glu)
c.756T>G (p.Asp252Glu)
c.*214T>G (n.*214T>G)
16g.27362532G>ACA395297906IL4Rc.1180G>A (p.Asp394Asn)
c.1135G>A (p.Asp379Asn)
c.230-1571G>A (n.230-1571G>A)
c.*1223G>A (n.*1223G>A)
c.700G>A (p.Asp234Asn)
c.289G>A (p.Asp97Asn)
c.229G>A (p.Asp77Asn)
c.913G>A (p.Asp305Asn)
c.883G>A (p.Asp295Asn)
c.757G>A (p.Asp253Asn)
c.*215G>A (n.*215G>A)
 gnomAD v4
16g.27362532G>CCA395297908IL4Rc.1180G>C (p.Asp394His)
c.1135G>C (p.Asp379His)
c.230-1571G>C (n.230-1571G>C)
c.*1223G>C (n.*1223G>C)
c.700G>C (p.Asp234His)
c.289G>C (p.Asp97His)
c.229G>C (p.Asp77His)
c.913G>C (p.Asp305His)
c.883G>C (p.Asp295His)
c.757G>C (p.Asp253His)
c.*215G>C (n.*215G>C)
16g.27362532G>TCA395297907IL4Rc.1180G>T (p.Asp394Tyr)
c.1135G>T (p.Asp379Tyr)
c.230-1571G>T (n.230-1571G>T)
c.*1223G>T (n.*1223G>T)
c.700G>T (p.Asp234Tyr)
c.289G>T (p.Asp97Tyr)
c.229G>T (p.Asp77Tyr)
c.913G>T (p.Asp305Tyr)
c.883G>T (p.Asp295Tyr)
c.757G>T (p.Asp253Tyr)
c.*215G>T (n.*215G>T)
16g.27362533A>CCA395297909IL4Rc.1181A>C (p.Asp394Ala)
c.1136A>C (p.Asp379Ala)
c.230-1570A>C (n.230-1570A>C)
c.*1224A>C (n.*1224A>C)
c.701A>C (p.Asp234Ala)
c.290A>C (p.Asp97Ala)
c.230A>C (p.Asp77Ala)
c.914A>C (p.Asp305Ala)
c.884A>C (p.Asp295Ala)
c.758A>C (p.Asp253Ala)
c.*216A>C (n.*216A>C)
16g.27362533A>GCA395297911IL4Rc.1181A>G (p.Asp394Gly)
c.1136A>G (p.Asp379Gly)
c.230-1570A>G (n.230-1570A>G)
c.*1224A>G (n.*1224A>G)
c.701A>G (p.Asp234Gly)
c.290A>G (p.Asp97Gly)
c.230A>G (p.Asp77Gly)
c.914A>G (p.Asp305Gly)
c.884A>G (p.Asp295Gly)
c.758A>G (p.Asp253Gly)
c.*216A>G (n.*216A>G)
16g.27362533A>TCA395297910IL4Rc.1181A>T (p.Asp394Val)
c.1136A>T (p.Asp379Val)
c.230-1570A>T (n.230-1570A>T)
c.*1224A>T (n.*1224A>T)
c.701A>T (p.Asp234Val)
c.290A>T (p.Asp97Val)
c.230A>T (p.Asp77Val)
c.914A>T (p.Asp305Val)
c.884A>T (p.Asp295Val)
c.758A>T (p.Asp253Val)
c.*216A>T (n.*216A>T)
16g.27362534C>ACA395297912IL4Rc.1182C>A (p.Asp394Glu)
c.1137C>A (p.Asp379Glu)
c.230-1569C>A (n.230-1569C>A)
c.*1225C>A (n.*1225C>A)
c.702C>A (p.Asp234Glu)
c.291C>A (p.Asp97Glu)
c.231C>A (p.Asp77Glu)
c.915C>A (p.Asp305Glu)
c.885C>A (p.Asp295Glu)
c.759C>A (p.Asp253Glu)
c.*217C>A (n.*217C>A)
16g.27362534C>GCA395297913IL4Rc.1182C>G (p.Asp394Glu)
c.1137C>G (p.Asp379Glu)
c.230-1569C>G (n.230-1569C>G)
c.*1225C>G (n.*1225C>G)
c.702C>G (p.Asp234Glu)
c.291C>G (p.Asp97Glu)
c.231C>G (p.Asp77Glu)
c.915C>G (p.Asp305Glu)
c.885C>G (p.Asp295Glu)
c.759C>G (p.Asp253Glu)
c.*217C>G (n.*217C>G)
16g.27362534C>TCA494470949IL4Rc.1182C>T (p.Asp394=)
c.1137C>T (p.Asp379=)
c.230-1569C>T (n.230-1569C>T)
c.*1225C>T (n.*1225C>T)
c.702C>T (p.Asp234=)
c.291C>T (p.Asp97=)
c.231C>T (p.Asp77=)
c.915C>T (p.Asp305=)
c.885C>T (p.Asp295=)
c.759C>T (p.Asp253=)
c.*217C>T (n.*217C>T)
16g.27362535T>ACA395297914IL4Rc.1183T>A (p.Phe395Ile)
c.1138T>A (p.Phe380Ile)
c.230-1568T>A (n.230-1568T>A)
c.*1226T>A (n.*1226T>A)
c.703T>A (p.Phe235Ile)
c.292T>A (p.Phe98Ile)
c.232T>A (p.Phe78Ile)
c.916T>A (p.Phe306Ile)
c.886T>A (p.Phe296Ile)
c.760T>A (p.Phe254Ile)
c.*218T>A (n.*218T>A)
16g.27362535T>CCA395297915IL4Rc.1183T>C (p.Phe395Leu)
c.1138T>C (p.Phe380Leu)
c.230-1568T>C (n.230-1568T>C)
c.*1226T>C (n.*1226T>C)
c.703T>C (p.Phe235Leu)
c.292T>C (p.Phe98Leu)
c.232T>C (p.Phe78Leu)
c.916T>C (p.Phe306Leu)
c.886T>C (p.Phe296Leu)
c.760T>C (p.Phe254Leu)
c.*218T>C (n.*218T>C)
16g.27362535T>GCA395297916IL4Rc.1183T>G (p.Phe395Val)
c.1138T>G (p.Phe380Val)
c.230-1568T>G (n.230-1568T>G)
c.*1226T>G (n.*1226T>G)
c.703T>G (p.Phe235Val)
c.292T>G (p.Phe98Val)
c.232T>G (p.Phe78Val)
c.916T>G (p.Phe306Val)
c.886T>G (p.Phe296Val)
c.760T>G (p.Phe254Val)
c.*218T>G (n.*218T>G)
16g.27362536T>ACA395297917IL4Rc.1184T>A (p.Phe395Tyr)
c.1139T>A (p.Phe380Tyr)
c.230-1567T>A (n.230-1567T>A)
c.*1227T>A (n.*1227T>A)
c.704T>A (p.Phe235Tyr)
c.293T>A (p.Phe98Tyr)
c.233T>A (p.Phe78Tyr)
c.917T>A (p.Phe306Tyr)
c.887T>A (p.Phe296Tyr)
c.761T>A (p.Phe254Tyr)
c.*219T>A (n.*219T>A)
16g.27362536T>CCA7974505IL4Rc.1184T>C (p.Phe395Ser)
c.1139T>C (p.Phe380Ser)
c.230-1567T>C (n.230-1567T>C)
c.*1227T>C (n.*1227T>C)
c.704T>C (p.Phe235Ser)
c.293T>C (p.Phe98Ser)
c.233T>C (p.Phe78Ser)
c.917T>C (p.Phe306Ser)
c.887T>C (p.Phe296Ser)
c.761T>C (p.Phe254Ser)
c.*219T>C (n.*219T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362536T>GCA395297918IL4Rc.1184T>G (p.Phe395Cys)
c.1139T>G (p.Phe380Cys)
c.230-1567T>G (n.230-1567T>G)
c.*1227T>G (n.*1227T>G)
c.704T>G (p.Phe235Cys)
c.293T>G (p.Phe98Cys)
c.233T>G (p.Phe78Cys)
c.917T>G (p.Phe306Cys)
c.887T>G (p.Phe296Cys)
c.761T>G (p.Phe254Cys)
c.*219T>G (n.*219T>G)
 dbSNP
16g.27362536T=CA2215169457IL4Rc.1184T= (p.Phe395=)
c.1139T= (p.Phe380=)
c.230-1567T= (n.230-1567T=)
c.*1227T= (n.*1227T=)
c.704T= (p.Phe235=)
c.293T= (p.Phe98=)
c.233T= (p.Phe78=)
c.917T= (p.Phe306=)
c.887T= (p.Phe296=)
c.761T= (p.Phe254=)
c.*219T= (n.*219T=)
16g.27362537C>ACA395297919IL4Rc.1185C>A (p.Phe395Leu)
c.1140C>A (p.Phe380Leu)
c.230-1566C>A (n.230-1566C>A)
c.*1228C>A (n.*1228C>A)
c.705C>A (p.Phe235Leu)
c.294C>A (p.Phe98Leu)
c.234C>A (p.Phe78Leu)
c.918C>A (p.Phe306Leu)
c.888C>A (p.Phe296Leu)
c.762C>A (p.Phe254Leu)
c.*220C>A (n.*220C>A)
16g.27362537C=CA2215169458IL4Rc.1185C= (p.Phe395=)
c.1140C= (p.Phe380=)
c.230-1566C= (n.230-1566C=)
c.*1228C= (n.*1228C=)
c.705C= (p.Phe235=)
c.294C= (p.Phe98=)
c.234C= (p.Phe78=)
c.918C= (p.Phe306=)
c.888C= (p.Phe296=)
c.762C= (p.Phe254=)
c.*220C= (n.*220C=)
16g.27362537C>GCA7974506IL4Rc.1185C>G (p.Phe395Leu)
c.1140C>G (p.Phe380Leu)
c.230-1566C>G (n.230-1566C>G)
c.*1228C>G (n.*1228C>G)
c.705C>G (p.Phe235Leu)
c.294C>G (p.Phe98Leu)
c.234C>G (p.Phe78Leu)
c.918C>G (p.Phe306Leu)
c.888C>G (p.Phe296Leu)
c.762C>G (p.Phe254Leu)
c.*220C>G (n.*220C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362537C>TCA494470953IL4Rc.1185C>T (p.Phe395=)
c.1140C>T (p.Phe380=)
c.230-1566C>T (n.230-1566C>T)
c.*1228C>T (n.*1228C>T)
c.705C>T (p.Phe235=)
c.294C>T (p.Phe98=)
c.234C>T (p.Phe78=)
c.918C>T (p.Phe306=)
c.888C>T (p.Phe296=)
c.762C>T (p.Phe254=)
c.*220C>T (n.*220C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.27362538C>ACA395297922IL4Rc.1186C>A (p.Gln396Lys)
c.1141C>A (p.Gln381Lys)
c.230-1565C>A (n.230-1565C>A)
c.*1229C>A (n.*1229C>A)
c.706C>A (p.Gln236Lys)
c.295C>A (p.Gln99Lys)
c.235C>A (p.Gln79Lys)
c.919C>A (p.Gln307Lys)
c.889C>A (p.Gln297Lys)
c.763C>A (p.Gln255Lys)
c.*221C>A (n.*221C>A)
16g.27362538C>GCA395297920IL4Rc.1186C>G (p.Gln396Glu)
c.1141C>G (p.Gln381Glu)
c.230-1565C>G (n.230-1565C>G)
c.*1229C>G (n.*1229C>G)
c.706C>G (p.Gln236Glu)
c.295C>G (p.Gln99Glu)
c.235C>G (p.Gln79Glu)
c.919C>G (p.Gln307Glu)
c.889C>G (p.Gln297Glu)
c.763C>G (p.Gln255Glu)
c.*221C>G (n.*221C>G)
16g.27362538C>TCA395297921IL4Rc.1186C>T (p.Gln396Ter)
c.1141C>T (p.Gln381Ter)
c.230-1565C>T (n.230-1565C>T)
c.*1229C>T (n.*1229C>T)
c.706C>T (p.Gln236Ter)
c.295C>T (p.Gln99Ter)
c.235C>T (p.Gln79Ter)
c.919C>T (p.Gln307Ter)
c.889C>T (p.Gln297Ter)
c.763C>T (p.Gln255Ter)
c.*221C>T (n.*221C>T)
16g.27362539A>CCA395297923IL4Rc.1187A>C (p.Gln396Pro)
c.1142A>C (p.Gln381Pro)
c.230-1564A>C (n.230-1564A>C)
c.*1230A>C (n.*1230A>C)
c.707A>C (p.Gln236Pro)
c.296A>C (p.Gln99Pro)
c.236A>C (p.Gln79Pro)
c.920A>C (p.Gln307Pro)
c.890A>C (p.Gln297Pro)
c.764A>C (p.Gln255Pro)
c.*222A>C (n.*222A>C)
16g.27362539A>GCA395297924IL4Rc.1187A>G (p.Gln396Arg)
c.1142A>G (p.Gln381Arg)
c.230-1564A>G (n.230-1564A>G)
c.*1230A>G (n.*1230A>G)
c.707A>G (p.Gln236Arg)
c.296A>G (p.Gln99Arg)
c.236A>G (p.Gln79Arg)
c.920A>G (p.Gln307Arg)
c.890A>G (p.Gln297Arg)
c.764A>G (p.Gln255Arg)
c.*222A>G (n.*222A>G)
16g.27362539A>TCA395297925IL4Rc.1187A>T (p.Gln396Leu)
c.1142A>T (p.Gln381Leu)
c.230-1564A>T (n.230-1564A>T)
c.*1230A>T (n.*1230A>T)
c.707A>T (p.Gln236Leu)
c.296A>T (p.Gln99Leu)
c.236A>T (p.Gln79Leu)
c.920A>T (p.Gln307Leu)
c.890A>T (p.Gln297Leu)
c.764A>T (p.Gln255Leu)
c.*222A>T (n.*222A>T)
16g.27362540G>ACA7974507IL4Rc.1188G>A (p.Gln396=)
c.1143G>A (p.Gln381=)
c.230-1563G>A (n.230-1563G>A)
c.*1231G>A (n.*1231G>A)
c.708G>A (p.Gln236=)
c.297G>A (p.Gln99=)
c.237G>A (p.Gln79=)
c.921G>A (p.Gln307=)
c.891G>A (p.Gln297=)
c.765G>A (p.Gln255=)
c.*223G>A (n.*223G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362540G>CCA395297926IL4Rc.1188G>C (p.Gln396His)
c.1143G>C (p.Gln381His)
c.230-1563G>C (n.230-1563G>C)
c.*1231G>C (n.*1231G>C)
c.708G>C (p.Gln236His)
c.297G>C (p.Gln99His)
c.237G>C (p.Gln79His)
c.921G>C (p.Gln307His)
c.891G>C (p.Gln297His)
c.765G>C (p.Gln255His)
c.*223G>C (n.*223G>C)
16g.27362540G=CA2215169459IL4Rc.1188G= (p.Gln396=)
c.1143G= (p.Gln381=)
c.230-1563G= (n.230-1563G=)
c.*1231G= (n.*1231G=)
c.708G= (p.Gln236=)
c.297G= (p.Gln99=)
c.237G= (p.Gln79=)
c.921G= (p.Gln307=)
c.891G= (p.Gln297=)
c.765G= (p.Gln255=)
c.*223G= (n.*223G=)
16g.27362540G>TCA395297927IL4Rc.1188G>T (p.Gln396His)
c.1143G>T (p.Gln381His)
c.230-1563G>T (n.230-1563G>T)
c.*1231G>T (n.*1231G>T)
c.708G>T (p.Gln236His)
c.297G>T (p.Gln99His)
c.237G>T (p.Gln79His)
c.921G>T (p.Gln307His)
c.891G>T (p.Gln297His)
c.765G>T (p.Gln255His)
c.*223G>T (n.*223G>T)
16g.27362541G>ACA395297928IL4Rc.1189G>A (p.Glu397Lys)
c.1144G>A (p.Glu382Lys)
c.230-1562G>A (n.230-1562G>A)
c.*1232G>A (n.*1232G>A)
c.709G>A (p.Glu237Lys)
c.298G>A (p.Glu100Lys)
c.238G>A (p.Glu80Lys)
c.922G>A (p.Glu308Lys)
c.892G>A (p.Glu298Lys)
c.766G>A (p.Glu256Lys)
c.*224G>A (n.*224G>A)
16g.27362541G>CCA395297929IL4Rc.1189G>C (p.Glu397Gln)
c.1144G>C (p.Glu382Gln)
c.230-1562G>C (n.230-1562G>C)
c.*1232G>C (n.*1232G>C)
c.709G>C (p.Glu237Gln)
c.298G>C (p.Glu100Gln)
c.238G>C (p.Glu80Gln)
c.922G>C (p.Glu308Gln)
c.892G>C (p.Glu298Gln)
c.766G>C (p.Glu256Gln)
c.*224G>C (n.*224G>C)
16g.27362541G>TCA395297930IL4Rc.1189G>T (p.Glu397Ter)
c.1144G>T (p.Glu382Ter)
c.230-1562G>T (n.230-1562G>T)
c.*1232G>T (n.*1232G>T)
c.709G>T (p.Glu237Ter)
c.298G>T (p.Glu100Ter)
c.238G>T (p.Glu80Ter)
c.922G>T (p.Glu308Ter)
c.892G>T (p.Glu298Ter)
c.766G>T (p.Glu256Ter)
c.*224G>T (n.*224G>T)
16g.27362542A>CCA395297932IL4Rc.1190A>C (p.Glu397Ala)
c.1145A>C (p.Glu382Ala)
c.230-1561A>C (n.230-1561A>C)
c.*1233A>C (n.*1233A>C)
c.710A>C (p.Glu237Ala)
c.299A>C (p.Glu100Ala)
c.239A>C (p.Glu80Ala)
c.923A>C (p.Glu308Ala)
c.893A>C (p.Glu298Ala)
c.767A>C (p.Glu256Ala)
c.*225A>C (n.*225A>C)
 gnomAD v4
16g.27362542A>GCA395297933IL4Rc.1190A>G (p.Glu397Gly)
c.1145A>G (p.Glu382Gly)
c.230-1561A>G (n.230-1561A>G)
c.*1233A>G (n.*1233A>G)
c.710A>G (p.Glu237Gly)
c.299A>G (p.Glu100Gly)
c.239A>G (p.Glu80Gly)
c.923A>G (p.Glu308Gly)
c.893A>G (p.Glu298Gly)
c.767A>G (p.Glu256Gly)
c.*225A>G (n.*225A>G)
16g.27362542A>TCA395297931IL4Rc.1190A>T (p.Glu397Val)
c.1145A>T (p.Glu382Val)
c.230-1561A>T (n.230-1561A>T)
c.*1233A>T (n.*1233A>T)
c.710A>T (p.Glu237Val)
c.299A>T (p.Glu100Val)
c.239A>T (p.Glu80Val)
c.923A>T (p.Glu308Val)
c.893A>T (p.Glu298Val)
c.767A>T (p.Glu256Val)
c.*225A>T (n.*225A>T)
 gnomAD v4
16g.27362543G>ACA494470967IL4Rc.1191G>A (p.Glu397=)
c.1146G>A (p.Glu382=)
c.230-1560G>A (n.230-1560G>A)
c.*1234G>A (n.*1234G>A)
c.711G>A (p.Glu237=)
c.300G>A (p.Glu100=)
c.240G>A (p.Glu80=)
c.924G>A (p.Glu308=)
c.894G>A (p.Glu298=)
c.768G>A (p.Glu256=)
c.*226G>A (n.*226G>A)
16g.27362543G>CCA395297934IL4Rc.1191G>C (p.Glu397Asp)
c.1146G>C (p.Glu382Asp)
c.230-1560G>C (n.230-1560G>C)
c.*1234G>C (n.*1234G>C)
c.711G>C (p.Glu237Asp)
c.300G>C (p.Glu100Asp)
c.240G>C (p.Glu80Asp)
c.924G>C (p.Glu308Asp)
c.894G>C (p.Glu298Asp)
c.768G>C (p.Glu256Asp)
c.*226G>C (n.*226G>C)
16g.27362543G>TCA395297935IL4Rc.1191G>T (p.Glu397Asp)
c.1146G>T (p.Glu382Asp)
c.230-1560G>T (n.230-1560G>T)
c.*1234G>T (n.*1234G>T)
c.711G>T (p.Glu237Asp)
c.300G>T (p.Glu100Asp)
c.240G>T (p.Glu80Asp)
c.924G>T (p.Glu308Asp)
c.894G>T (p.Glu298Asp)
c.768G>T (p.Glu256Asp)
c.*226G>T (n.*226G>T)
16g.27362544G>ACA395297936IL4Rc.1192G>A (p.Gly398Arg)
c.1147G>A (p.Gly383Arg)
c.230-1559G>A (n.230-1559G>A)
c.*1235G>A (n.*1235G>A)
c.712G>A (p.Gly238Arg)
c.301G>A (p.Gly101Arg)
c.241G>A (p.Gly81Arg)
c.925G>A (p.Gly309Arg)
c.895G>A (p.Gly299Arg)
c.769G>A (p.Gly257Arg)
c.*227G>A (n.*227G>A)
16g.27362544G>CCA7974508IL4Rc.1192G>C (p.Gly398Arg)
c.1147G>C (p.Gly383Arg)
c.230-1559G>C (n.230-1559G>C)
c.*1235G>C (n.*1235G>C)
c.712G>C (p.Gly238Arg)
c.301G>C (p.Gly101Arg)
c.241G>C (p.Gly81Arg)
c.925G>C (p.Gly309Arg)
c.895G>C (p.Gly299Arg)
c.769G>C (p.Gly257Arg)
c.*227G>C (n.*227G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362544G=CA2215169460IL4Rc.1192G= (p.Gly398=)
c.1147G= (p.Gly383=)
c.230-1559G= (n.230-1559G=)
c.*1235G= (n.*1235G=)
c.712G= (p.Gly238=)
c.301G= (p.Gly101=)
c.241G= (p.Gly81=)
c.925G= (p.Gly309=)
c.895G= (p.Gly299=)
c.769G= (p.Gly257=)
c.*227G= (n.*227G=)
16g.27362544G>TCA395297937IL4Rc.1192G>T (p.Gly398Ter)
c.1147G>T (p.Gly383Ter)
c.230-1559G>T (n.230-1559G>T)
c.*1235G>T (n.*1235G>T)
c.712G>T (p.Gly238Ter)
c.301G>T (p.Gly101Ter)
c.241G>T (p.Gly81Ter)
c.925G>T (p.Gly309Ter)
c.895G>T (p.Gly299Ter)
c.769G>T (p.Gly257Ter)
c.*227G>T (n.*227G>T)
16g.27362545G>ACA7974509IL4Rc.1193G>A (p.Gly398Glu)
c.1148G>A (p.Gly383Glu)
c.230-1558G>A (n.230-1558G>A)
c.*1236G>A (n.*1236G>A)
c.713G>A (p.Gly238Glu)
c.302G>A (p.Gly101Glu)
c.242G>A (p.Gly81Glu)
c.926G>A (p.Gly309Glu)
c.896G>A (p.Gly299Glu)
c.770G>A (p.Gly257Glu)
c.*228G>A (n.*228G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362545G>CCA395297938IL4Rc.1193G>C (p.Gly398Ala)
c.1148G>C (p.Gly383Ala)
c.230-1558G>C (n.230-1558G>C)
c.*1236G>C (n.*1236G>C)
c.713G>C (p.Gly238Ala)
c.302G>C (p.Gly101Ala)
c.242G>C (p.Gly81Ala)
c.926G>C (p.Gly309Ala)
c.896G>C (p.Gly299Ala)
c.770G>C (p.Gly257Ala)
c.*228G>C (n.*228G>C)
 COSMIC
16g.27362545G=CA2215169461IL4Rc.1193G= (p.Gly398=)
c.1148G= (p.Gly383=)
c.230-1558G= (n.230-1558G=)
c.*1236G= (n.*1236G=)
c.713G= (p.Gly238=)
c.302G= (p.Gly101=)
c.242G= (p.Gly81=)
c.926G= (p.Gly309=)
c.896G= (p.Gly299=)
c.770G= (p.Gly257=)
c.*228G= (n.*228G=)
16g.27362545G>TCA395297939IL4Rc.1193G>T (p.Gly398Val)
c.1148G>T (p.Gly383Val)
c.230-1558G>T (n.230-1558G>T)
c.*1236G>T (n.*1236G>T)
c.713G>T (p.Gly238Val)
c.302G>T (p.Gly101Val)
c.242G>T (p.Gly81Val)
c.926G>T (p.Gly309Val)
c.896G>T (p.Gly299Val)
c.770G>T (p.Gly257Val)
c.*228G>T (n.*228G>T)

Number of alleles fetched