Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.27362444G>A | CA494470688 | IL4R | c.1092G>A (p.Leu364=) c.1047G>A (p.Leu349=) c.229+1651G>A (n.229+1651G>A) n.502G>A c.*1135G>A (n.*1135G>A) c.612G>A (p.Leu204=) c.201G>A (p.Leu67=) c.141G>A (p.Leu47=) c.825G>A (p.Leu275=) c.795G>A (p.Leu265=) c.669G>A (p.Leu223=) c.*127G>A (n.*127G>A) | |
16 | g.27362444G>C | CA395297575 | IL4R | c.1092G>C (p.Leu364Phe) c.1047G>C (p.Leu349Phe) c.229+1651G>C (n.229+1651G>C) n.502G>C c.*1135G>C (n.*1135G>C) c.612G>C (p.Leu204Phe) c.201G>C (p.Leu67Phe) c.141G>C (p.Leu47Phe) c.825G>C (p.Leu275Phe) c.795G>C (p.Leu265Phe) c.669G>C (p.Leu223Phe) c.*127G>C (n.*127G>C) | |
16 | g.27362444G= | CA2215169381 | IL4R | c.1092G= (p.Leu364=) c.1047G= (p.Leu349=) c.229+1651G= (n.229+1651G=) n.502G= c.*1135G= (n.*1135G=) c.612G= (p.Leu204=) c.201G= (p.Leu67=) c.141G= (p.Leu47=) c.825G= (p.Leu275=) c.795G= (p.Leu265=) c.669G= (p.Leu223=) c.*127G= (n.*127G=) | |
16 | g.27362444G>T | CA395297577 | IL4R | c.1092G>T (p.Leu364Phe) c.1047G>T (p.Leu349Phe) c.229+1651G>T (n.229+1651G>T) n.502G>T c.*1135G>T (n.*1135G>T) c.612G>T (p.Leu204Phe) c.201G>T (p.Leu67Phe) c.141G>T (p.Leu47Phe) c.825G>T (p.Leu275Phe) c.795G>T (p.Leu265Phe) c.669G>T (p.Leu223Phe) c.*127G>T (n.*127G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362445T>A | CA395297581 | IL4R | c.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) | |
16 | g.27362445T>C | CA395297583 | IL4R | c.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) | |
16 | g.27362445T>G | CA395297586 | IL4R | c.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) | |
16 | g.27362446T>A | CA395297592 | IL4R | c.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) | |
16 | g.27362446T>C | CA395297588 | IL4R | c.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 |
16 | g.27362446T>G | CA395297590 | IL4R | c.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) | |
16 | g.27362447T>A | CA395297595 | IL4R | c.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) | |
16 | g.27362447T>C | CA494470707 | IL4R | c.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 |
16 | g.27362447T>G | CA395297597 | IL4R | c.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) | |
16 | g.27362448G>A | CA395297600 | IL4R | c.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 |
16 | g.27362448G>C | CA395297601 | IL4R | c.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) | |
16 | g.27362448G>T | CA395297605 | IL4R | c.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) | |
16 | g.27362449A>C | CA395297608 | IL4R | c.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) | |
16 | g.27362449A>G | CA395297612 | IL4R | c.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 |
16 | g.27362449A>T | CA395297610 | IL4R | c.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) | |
16 | g.27362450G>A | CA494470714 | IL4R | c.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 |
16 | g.27362450G>C | CA7974488 | IL4R | c.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 |
16 | g.27362450G= | CA2215169383 | IL4R | c.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=) | |
16 | g.27362450G>T | CA395297616 | IL4R | c.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) | |
16 | g.27362451G>A | CA395297619 | IL4R | c.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 |
16 | g.27362451G>C | CA395297621 | IL4R | c.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) | |
16 | g.27362451G= | CA2215169384 | IL4R | c.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=) | |
16 | g.27362451G>T | CA395297623 | IL4R | c.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 |
16 | g.27362452C>A | CA7974489 | IL4R | c.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 |
16 | g.27362452C= | CA2215169389 | IL4R | c.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=) | |
16 | g.27362452C>G | CA395297626 | IL4R | c.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 |
16 | g.27362452C>T | CA395297628 | IL4R | c.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 |
16 | g.27362453C>A | CA494470728 | IL4R | c.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) | |
16 | g.27362453C= | CA2215169391 | IL4R | c.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=) | |
16 | g.27362453C>G | CA494470730 | IL4R | c.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 |
16 | g.27362453C>T | CA494470726 | IL4R | c.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 |
16 | g.27362454C>A | CA395297631 | IL4R | c.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) | |
16 | g.27362454C= | CA2215169392 | IL4R | c.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=) | |
16 | g.27362454C>G | CA395297633 | IL4R | c.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 |
16 | g.27362454C>T | CA395297636 | IL4R | c.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) | |
16 | g.27362455C>A | CA7974490 | IL4R | c.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 |
16 | g.27362455C= | CA2215169393 | IL4R | c.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=) | |
16 | g.27362455C>G | CA395297641 | IL4R | c.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 |
16 | g.27362455C>T | CA7974491 | IL4R | c.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 |
16 | g.27362455_27362456delinsCG | CA2215169394 | IL4R | c.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) | |
16 | g.27362456G>A | CA7974492 | IL4R | c.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 |
16 | g.27362456G>C | CA494470737 | IL4R | c.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) | |
16 | g.27362456G= | CA2215169397 | IL4R | c.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=) | |
16 | g.27362456G>T | CA494470738 | IL4R | c.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 |
16 | g.27362457del | CA621769808 | IL4R | c.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 |
16 | g.27362457G>A | CA395297647 | IL4R | c.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 |
16 | g.27362457G>C | CA395297648 | IL4R | c.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) | |
16 | g.27362457G>T | CA395297651 | IL4R | c.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) | |
16 | g.27362458T>A | CA395297653 | IL4R | c.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) | |
16 | g.27362458T>C | CA395297655 | IL4R | c.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) | |
16 | g.27362458T>G | CA395297657 | IL4R | c.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) | |
16 | g.27362459G>A | CA494470742 | IL4R | c.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) | |
16 | g.27362459G>C | CA494470744 | IL4R | c.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) | |
16 | g.27362459G>T | CA494470746 | IL4R | c.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) | |
16 | g.27362460G>A | CA395297665 | IL4R | c.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) | |
16 | g.27362460G>C | CA395297660 | IL4R | c.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) | |
16 | g.27362460G>T | CA395297662 | IL4R | c.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) | |
16 | g.27362463_27362468del | CA2540339782 | IL4R | c.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) | |
16 | g.27362461A= | CA2215169399 | IL4R | c.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=) | |
16 | g.27362461A>C | CA395297668 | IL4R | c.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) | |
16 | g.27362461A>G | CA395297670 | IL4R | c.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 |
16 | g.27362461A>T | CA395297672 | IL4R | c.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) | |
16 | g.27362462G>A | CA494470750 | IL4R | c.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 |
16 | g.27362462G>C | CA395297674 | IL4R | c.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) | |
16 | g.27362462G>T | CA395297675 | IL4R | c.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) | |
16 | g.27362463T>A | CA395297678 | IL4R | c.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) | |
16 | g.27362463T>C | CA395297685 | IL4R | c.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) | |
16 | g.27362463T>G | CA395297683 | IL4R | c.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) | |
16 | g.27362464G>A | CA395297689 | IL4R | c.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 |
16 | g.27362464G>C | CA395297690 | IL4R | c.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) | |
16 | g.27362464G>T | CA395297693 | IL4R | c.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) | |
16 | g.27362465T>A | CA395297697 | IL4R | c.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) | |
16 | g.27362465T>C | CA494470764 | IL4R | c.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) | |
16 | g.27362465T>G | CA395297699 | IL4R | c.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) | |
16 | g.27362465_27362471delinsTGAGGAG | CA2215169404 | IL4R | c.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) | |
16 | g.27362466G>A | CA395297704 | IL4R | c.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) | |
16 | g.27362466G>C | CA395297707 | IL4R | c.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) | |
16 | g.27362466G>T | CA395297709 | IL4R | c.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) | |
16 | g.27362479_27362481dup | CA7974494 | IL4R | c.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 |
16 | g.27362479_27362481del | CA7974493 | IL4R | c.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 |
16 | g.27362476_27362481del | CA621769809 | IL4R | c.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 |
16 | g.27362467A>C | CA395297718 | IL4R | c.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) | |
16 | g.27362467A>G | CA395297715 | IL4R | c.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) | |
16 | g.27362467A>T | CA395297713 | IL4R | c.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) | |
16 | g.27362468G>A | CA494470778 | IL4R | c.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 |
16 | g.27362468G>C | CA395297720 | IL4R | c.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) | |
16 | g.27362468G= | CA2215169409 | IL4R | c.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=) | |
16 | g.27362468G>T | CA395297721 | IL4R | c.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 |
16 | g.27362469G>A | CA395297724 | IL4R | c.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 |
16 | g.27362469G>C | CA395297726 | IL4R | c.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) | |
16 | g.27362469G>T | CA395297729 | IL4R | c.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 |
16 | g.27362470A>C | CA395297732 | IL4R | c.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) | |
16 | g.27362470A>G | CA395297734 | IL4R | c.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) | |
16 | g.27362470A>T | CA395297736 | IL4R | c.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) | |
16 | g.27362471G>A | CA494470783 | IL4R | c.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) | |
16 | g.27362471G>C | CA395297738 | IL4R | c.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 |
16 | g.27362471G>T | CA395297739 | IL4R | c.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) | |
16 | g.27362472G>A | CA395297740 | IL4R | c.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) | |
16 | g.27362472G>C | CA395297742 | IL4R | c.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) | |
16 | g.27362472G>T | CA395297744 | IL4R | c.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) | |
16 | g.27362473A>C | CA395297748 | IL4R | c.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) | |
16 | g.27362473A>G | CA395297746 | IL4R | c.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) | |
16 | g.27362473A>T | CA395297747 | IL4R | c.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) | |
16 | g.27362474G>A | CA494470792 | IL4R | c.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 |
16 | g.27362474G>C | CA395297749 | IL4R | c.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) | |
16 | g.27362474G= | CA2215169415 | IL4R | c.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=) | |
16 | g.27362474G>T | CA395297750 | IL4R | c.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) | |
16 | g.27362475G>A | CA395297751 | IL4R | c.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) | |
16 | g.27362475G>C | CA395297752 | IL4R | c.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 |
16 | g.27362475G= | CA2215169416 | IL4R | c.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=) | |
16 | g.27362475G>T | CA395297753 | IL4R | c.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) | |
16 | g.27362476A>C | CA395297754 | IL4R | c.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) | |
16 | g.27362476A>G | CA395297755 | IL4R | c.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) | |
16 | g.27362476A>T | CA395297756 | IL4R | c.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) | |
16 | g.27362477G>A | CA494470798 | IL4R | c.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) | |
16 | g.27362477G>C | CA395297757 | IL4R | c.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) | |
16 | g.27362477G>T | CA395297758 | IL4R | c.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) | |
16 | g.27362478G>A | CA395297759 | IL4R | c.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) | |
16 | g.27362478G>C | CA395297760 | IL4R | c.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) | |
16 | g.27362478G>T | CA395297761 | IL4R | c.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) | |
16 | g.27362479A>C | CA395297763 | IL4R | c.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) | |
16 | g.27362479A>G | CA395297764 | IL4R | c.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) | |
16 | g.27362479A>T | CA395297762 | IL4R | c.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) | |
16 | g.27362480G>A | CA494470804 | IL4R | c.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) | |
16 | g.27362480G>C | CA395297766 | IL4R | c.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) | |
16 | g.27362480G>T | CA395297765 | IL4R | c.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) | |
16 | g.27362481G>A | CA7974495 | IL4R | c.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 |
16 | g.27362481G>C | CA395297767 | IL4R | c.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) | |
16 | g.27362481G= | CA2215169417 | IL4R | c.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=) | |
16 | g.27362481G>T | CA395297768 | IL4R | c.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) | |
16 | g.27362482T>A | CA395297769 | IL4R | c.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 |
16 | g.27362482T>C | CA7974496 | IL4R | c.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 |
16 | g.27362482T>G | CA395297772 | IL4R | c.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) | |
16 | g.27362482T= | CA2215169421 | IL4R | c.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=) | |
16 | g.27362482_27362488delinsTAGAGGA | CA2215169423 | IL4R | c.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) | |
16 | g.27362483A>C | CA494470819 | IL4R | c.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) | |
16 | g.27362483A>G | CA494470818 | IL4R | c.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) | |
16 | g.27362483A>T | CA494470817 | IL4R | c.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) | |
16 | g.27362486_27362491del | CA621769810 | IL4R | c.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 |
16 | g.27362484G>A | CA395297780 | IL4R | c.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) | |
16 | g.27362484G>C | CA395297778 | IL4R | c.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) | |
16 | g.27362484G>T | CA395297776 | IL4R | c.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) | |
16 | g.27362485A>C | CA395297783 | IL4R | c.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) | |
16 | g.27362485A>G | CA395297785 | IL4R | c.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) | |
16 | g.27362485A>T | CA395297787 | IL4R | c.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 |
16 | g.27362486G>A | CA7974497 | IL4R | c.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 |
16 | g.27362486G>C | CA395297791 | IL4R | c.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 |
16 | g.27362486G= | CA2215169428 | IL4R | c.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=) | |
16 | g.27362486G>T | CA395297793 | IL4R | c.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) | |
16 | g.27362487G>A | CA395297796 | IL4R | c.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) | |
16 | g.27362487G>C | CA395297800 | IL4R | c.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) | |
16 | g.27362487G>T | CA395297798 | IL4R | c.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) | |
16 | g.27362488A>C | CA395297802 | IL4R | c.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) | |
16 | g.27362488A>G | CA395297803 | IL4R | c.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) | |
16 | g.27362488A>T | CA395297804 | IL4R | c.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) | |
16 | g.27362489A>C | CA395297805 | IL4R | c.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) | |
16 | g.27362489A>G | CA494470837 | IL4R | c.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) | |
16 | g.27362489A>T | CA395297806 | IL4R | c.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) | |
16 | g.27362490G>A | CA395297807 | IL4R | c.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) | |
16 | g.27362490G>C | CA395297808 | IL4R | c.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 |
16 | g.27362490G>T | CA395297809 | IL4R | c.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) | |
16 | g.27362491A>C | CA395297810 | IL4R | c.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) | |
16 | g.27362491A>G | CA395297811 | IL4R | c.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) | |
16 | g.27362491A>T | CA395297812 | IL4R | c.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 |
16 | g.27362491_27362499dup | CA2632431241 | IL4R | c.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 |
16 | g.27362492A>C | CA395297813 | IL4R | c.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) | |
16 | g.27362492A>G | CA494470845 | IL4R | c.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) | |
16 | g.27362492A>T | CA395297814 | IL4R | c.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) | |
16 | g.27362493A>C | CA395297815 | IL4R | c.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) | |
16 | g.27362493A>G | CA395297816 | IL4R | c.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) | |
16 | g.27362493A>T | CA395297817 | IL4R | c.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) | |
16 | g.27362494A>C | CA395297818 | IL4R | c.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) | |
16 | g.27362494A>G | CA395297819 | IL4R | c.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) | |
16 | g.27362494A>T | CA395297820 | IL4R | c.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) | |
16 | g.27362495A>C | CA395297821 | IL4R | c.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) | |
16 | g.27362495A>G | CA494470854 | IL4R | c.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) | |
16 | g.27362495A>T | CA395297822 | IL4R | c.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) | |
16 | g.27362496G>A | CA7974498 | IL4R | c.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 |
16 | g.27362496G>C | CA395297823 | IL4R | c.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 |
16 | g.27362496G= | CA2215169429 | IL4R | c.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=) | |
16 | g.27362496G>T | CA395297824 | IL4R | c.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) | |
16 | g.27362498del | CA2731986803 | IL4R | c.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 |
16 | g.27362497G>A | CA395297825 | IL4R | c.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) | |
16 | g.27362497G>C | CA395297826 | IL4R | c.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) | |
16 | g.27362497G>T | CA395297827 | IL4R | c.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) | |
16 | g.27362498G>A | CA7974499 | IL4R | c.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 |
16 | g.27362498G>C | CA494470862 | IL4R | c.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) | |
16 | g.27362498G= | CA2215169430 | IL4R | c.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=) | |
16 | g.27362498G>T | CA494470864 | IL4R | c.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) | |
16 | g.27362499A>C | CA395297828 | IL4R | c.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) | |
16 | g.27362499A>G | CA395297829 | IL4R | c.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) | |
16 | g.27362499A>T | CA395297830 | IL4R | c.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 |
16 | g.27362500G>A | CA395297831 | IL4R | c.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) | |
16 | g.27362500G>C | CA395297832 | IL4R | c.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) | |
16 | g.27362500G>T | CA395297833 | IL4R | c.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) | |
16 | g.27362501C>A | CA395297834 | IL4R | c.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) | |
16 | g.27362501C>G | CA395297835 | IL4R | c.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) | |
16 | g.27362501C>T | CA494470871 | IL4R | c.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) | |
16 | g.27362502T>A | CA395297836 | IL4R | c.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) | |
16 | g.27362502T>C | CA395297837 | IL4R | c.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 |
16 | g.27362502T>G | CA395297838 | IL4R | c.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) | |
16 | g.27362503T>A | CA395297839 | IL4R | c.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 |
16 | g.27362503T>C | CA395297840 | IL4R | c.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) | |
16 | g.27362503T>G | CA395297841 | IL4R | c.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) | |
16 | g.27362504C>A | CA395297842 | IL4R | c.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) | |
16 | g.27362504C>G | CA395297843 | IL4R | c.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) | |
16 | g.27362504C>T | CA494470874 | IL4R | c.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) | |
16 | g.27362505T>A | CA395297844 | IL4R | c.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) | |
16 | g.27362505T>C | CA395297846 | IL4R | c.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) | |
16 | g.27362505T>G | CA395297845 | IL4R | c.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) | |
16 | g.27362506G>A | CA395297847 | IL4R | c.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 |
16 | g.27362506G>C | CA395297848 | IL4R | c.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) | |
16 | g.27362506G= | CA2215169431 | IL4R | c.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=) | |
16 | g.27362506G>T | CA395297849 | IL4R | c.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) | |
16 | g.27362507T>A | CA395297850 | IL4R | c.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) | |
16 | g.27362507T>C | CA494470888 | IL4R | c.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) | |
16 | g.27362507T>G | CA395297851 | IL4R | c.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) | |
16 | g.27362508G>A | CA395297852 | IL4R | c.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 |
16 | g.27362508G>C | CA395297853 | IL4R | c.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) | |
16 | g.27362508G>T | CA395297854 | IL4R | c.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) | |
16 | g.27362509C>A | CA395297855 | IL4R | c.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) | |
16 | g.27362509C>G | CA395297856 | IL4R | c.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) | |
16 | g.27362509C>T | CA395297857 | IL4R | c.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) | |
16 | g.27362510A= | CA2215169433 | IL4R | c.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=) | |
16 | g.27362510A>C | CA494470902 | IL4R | c.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) | |
16 | g.27362510A>G | CA7974500 | IL4R | c.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 |
16 | g.27362510A>T | CA494470900 | IL4R | c.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) | |
16 | g.27362511T>A | CA395297858 | IL4R | c.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) | |
16 | g.27362511T>C | CA395297860 | IL4R | c.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) | |
16 | g.27362511T>G | CA395297859 | IL4R | c.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) | |
16 | g.27362512C>A | CA395297861 | IL4R | c.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) | |
16 | g.27362512C= | CA2215169437 | IL4R | c.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=) | |
16 | g.27362512C>G | CA395297862 | IL4R | c.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 |
16 | g.27362512C>T | CA7974501 | IL4R | c.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 |
16 | g.27362513G>A | CA7974502 | IL4R | c.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 |
16 | g.27362513G>C | CA494470908 | IL4R | c.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) | |
16 | g.27362513G= | CA2215169443 | IL4R | c.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=) | |
16 | g.27362513G>T | CA494470912 | IL4R | c.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 |
16 | g.27362513dup | CA2839157482 | IL4R | c.1161dup (p.Pro388AlafsTer2) c.1116dup (p.Pro373AlafsTer2) c.230-1590dup (n.230-1590dup) c.*1204dup (n.*1204dup) c.681dup (p.Pro228AlafsTer2) c.270dup (p.Pro91AlafsTer2) c.210dup (p.Pro71AlafsTer2) c.894dup (p.Pro299AlafsTer2) c.864dup (p.Pro289AlafsTer2) c.738dup (p.Pro247AlafsTer2) c.*196dup (n.*196dup) | |
16 | g.27362514C>A | CA395297863 | IL4R | c.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) | |
16 | g.27362514C= | CA2215169448 | IL4R | c.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=) | |
16 | g.27362514C>G | CA395297864 | IL4R | c.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) | |
16 | g.27362514C>T | CA395297865 | IL4R | c.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 |
16 | g.27362515C>A | CA395297866 | IL4R | c.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) | |
16 | g.27362515C>G | CA395297867 | IL4R | c.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) | |
16 | g.27362515C>T | CA395297868 | IL4R | c.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) | |
16 | g.27362516T>A | CA494470925 | IL4R | c.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) | |
16 | g.27362516T>C | CA494470919 | IL4R | c.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) | |
16 | g.27362516T>G | CA494470922 | IL4R | c.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) | |
16 | g.27362517G>A | CA395297870 | IL4R | c.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) | |
16 | g.27362517G>C | CA395297871 | IL4R | c.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) | |
16 | g.27362517G>T | CA395297869 | IL4R | c.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) | |
16 | g.27362518A>C | CA395297872 | IL4R | c.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 |
16 | g.27362518A>G | CA395297873 | IL4R | c.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) | |
16 | g.27362518A>T | CA395297874 | IL4R | c.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) | |
16 | g.27362519G>A | CA494470926 | IL4R | c.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) | |
16 | g.27362519G>C | CA395297875 | IL4R | c.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) | |
16 | g.27362519G>T | CA395297876 | IL4R | c.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) | |
16 | g.27362520A>C | CA395297877 | IL4R | c.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) | |
16 | g.27362520A>G | CA395297878 | IL4R | c.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) | |
16 | g.27362520A>T | CA395297879 | IL4R | c.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) | |
16 | g.27362521G>A | CA395297880 | IL4R | c.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) | |
16 | g.27362521G>C | CA395297881 | IL4R | c.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) | |
16 | g.27362521G>T | CA395297882 | IL4R | c.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) | |
16 | g.27362522C>A | CA395297883 | IL4R | c.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) | |
16 | g.27362522C= | CA2215169449 | IL4R | c.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=) | |
16 | g.27362522C>G | CA7974503 | IL4R | c.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 |
16 | g.27362522C>T | CA494470933 | IL4R | c.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) | |
16 | g.27362523A= | CA2215169450 | IL4R | c.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=) | |
16 | g.27362523A>C | CA395297886 | IL4R | c.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 |
16 | g.27362523A>G | CA395297885 | IL4R | c.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) | |
16 | g.27362523A>T | CA395297884 | IL4R | c.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) | |
16 | g.27362524G>A | CA395297887 | IL4R | c.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) | |
16 | g.27362524G>C | CA395297888 | IL4R | c.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) | |
16 | g.27362524G>T | CA395297889 | IL4R | c.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 |
16 | g.27362525C>A | CA395297890 | IL4R | c.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) | |
16 | g.27362525C>G | CA395297891 | IL4R | c.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) | |
16 | g.27362525C>T | CA494470938 | IL4R | c.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) | |
16 | g.27362526A>C | CA494470939 | IL4R | c.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) | |
16 | g.27362526A>G | CA395297892 | IL4R | c.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) | |
16 | g.27362526A>T | CA395297893 | IL4R | c.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) | |
16 | g.27362527G>A | CA395297894 | IL4R | c.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) | |
16 | g.27362527G>C | CA395297895 | IL4R | c.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 |
16 | g.27362527G= | CA2215169452 | IL4R | c.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=) | |
16 | g.27362527G>T | CA395297896 | IL4R | c.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 |
16 | g.27362528G>A | CA7974504 | IL4R | c.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 |
16 | g.27362528G>C | CA395297897 | IL4R | c.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) | |
16 | g.27362528G= | CA2215169456 | IL4R | c.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=) | |
16 | g.27362528G>T | CA279686428 | IL4R | c.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 |
16 | g.27362529G>A | CA395297900 | IL4R | c.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) | |
16 | g.27362529G>C | CA395297899 | IL4R | c.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) | |
16 | g.27362529G>T | CA395297898 | IL4R | c.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) | |
16 | g.27362530A>C | CA395297901 | IL4R | c.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) | |
16 | g.27362530A>G | CA395297903 | IL4R | c.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) | |
16 | g.27362530A>T | CA395297902 | IL4R | c.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 |
16 | g.27362531T>A | CA395297904 | IL4R | c.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) | |
16 | g.27362531T>C | CA494470945 | IL4R | c.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) | |
16 | g.27362531T>G | CA395297905 | IL4R | c.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) | |
16 | g.27362532G>A | CA395297906 | IL4R | c.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 |
16 | g.27362532G>C | CA395297908 | IL4R | c.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) | |
16 | g.27362532G>T | CA395297907 | IL4R | c.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) | |
16 | g.27362533A>C | CA395297909 | IL4R | c.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) | |
16 | g.27362533A>G | CA395297911 | IL4R | c.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) | |
16 | g.27362533A>T | CA395297910 | IL4R | c.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) | |
16 | g.27362534C>A | CA395297912 | IL4R | c.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) | |
16 | g.27362534C>G | CA395297913 | IL4R | c.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) | |
16 | g.27362534C>T | CA494470949 | IL4R | c.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) | |
16 | g.27362535T>A | CA395297914 | IL4R | c.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) | |
16 | g.27362535T>C | CA395297915 | IL4R | c.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) | |
16 | g.27362535T>G | CA395297916 | IL4R | c.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) | |
16 | g.27362536T>A | CA395297917 | IL4R | c.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) | |
16 | g.27362536T>C | CA7974505 | IL4R | c.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 |
16 | g.27362536T>G | CA395297918 | IL4R | c.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 |
16 | g.27362536T= | CA2215169457 | IL4R | c.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=) | |
16 | g.27362537C>A | CA395297919 | IL4R | c.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) | |
16 | g.27362537C= | CA2215169458 | IL4R | c.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=) | |
16 | g.27362537C>G | CA7974506 | IL4R | c.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 |
16 | g.27362537C>T | CA494470953 | IL4R | c.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 |
16 | g.27362538C>A | CA395297922 | IL4R | c.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) | |
16 | g.27362538C>G | CA395297920 | IL4R | c.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) | |
16 | g.27362538C>T | CA395297921 | IL4R | c.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) | |
16 | g.27362539A>C | CA395297923 | IL4R | c.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) | |
16 | g.27362539A>G | CA395297924 | IL4R | c.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) | |
16 | g.27362539A>T | CA395297925 | IL4R | c.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) | |
16 | g.27362540G>A | CA7974507 | IL4R | c.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 |
16 | g.27362540G>C | CA395297926 | IL4R | c.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) | |
16 | g.27362540G= | CA2215169459 | IL4R | c.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=) | |
16 | g.27362540G>T | CA395297927 | IL4R | c.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) | |
16 | g.27362541G>A | CA395297928 | IL4R | c.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) | |
16 | g.27362541G>C | CA395297929 | IL4R | c.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) | |
16 | g.27362541G>T | CA395297930 | IL4R | c.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) | |
16 | g.27362542A>C | CA395297932 | IL4R | c.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 |
16 | g.27362542A>G | CA395297933 | IL4R | c.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) | |
16 | g.27362542A>T | CA395297931 | IL4R | c.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 |
16 | g.27362543G>A | CA494470967 | IL4R | c.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) | |
16 | g.27362543G>C | CA395297934 | IL4R | c.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) | |
16 | g.27362543G>T | CA395297935 | IL4R | c.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) | |
16 | g.27362545dup | CA2839663206 | IL4R | c.1193dup (p.Arg399LysfsTer?) c.1148dup (p.Arg384LysfsTer?) c.230-1558dup (n.230-1558dup) c.*1236dup (n.*1236dup) c.713dup (p.Arg239LysfsTer?) c.302dup (p.Arg102LysfsTer?) c.242dup (p.Arg82LysfsTer?) c.926dup (p.Arg310LysfsTer?) c.896dup (p.Arg300LysfsTer?) c.770dup (p.Arg258LysfsTer?) c.*228dup (n.*228dup) | |
16 | g.27362544G>A | CA395297936 | IL4R | c.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) | |
16 | g.27362544G>C | CA7974508 | IL4R | c.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 |
16 | g.27362544G= | CA2215169460 | IL4R | c.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=) | |
16 | g.27362544G>T | CA395297937 | IL4R | c.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) |