| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154448124G>A | CA342621579 | IL6R | c.950-1G>A (n.950-1G>A) c.766-1G>A n.148-1G>A c.358-1G>A c.808-1G>A (n.808-1G>A) c.998-1G>A (n.998-1G>A) c.1043-1G>A (n.1043-1G>A) c.944-1G>A (n.944-1G>A) c.590-1G>A (n.590-1G>A) | |
| 1 | g.154448124G>C | CA342621580 | IL6R | c.950-1G>C (n.950-1G>C) c.766-1G>C n.148-1G>C c.358-1G>C c.808-1G>C (n.808-1G>C) c.998-1G>C (n.998-1G>C) c.1043-1G>C (n.1043-1G>C) c.944-1G>C (n.944-1G>C) c.590-1G>C (n.590-1G>C) | |
| 1 | g.154448124G>T | CA342621583 | IL6R | c.950-1G>T (n.950-1G>T) c.766-1G>T n.148-1G>T c.358-1G>T c.808-1G>T (n.808-1G>T) c.998-1G>T (n.998-1G>T) c.1043-1G>T (n.1043-1G>T) c.944-1G>T (n.944-1G>T) c.590-1G>T (n.590-1G>T) | |
| 1 | g.154448125A>C | CA342621587 | IL6R | c.950A>C (p.Glu317Ala) c.766A>C n.148A>C c.358A>C c.808A>C (p.Asn270His) c.998A>C (p.Glu333Ala) c.1043A>C (p.Glu348Ala) c.944A>C (p.Glu315Ala) c.590A>C (p.Glu197Ala) | |
| 1 | g.154448125A>G | CA342621589 | IL6R | c.950A>G (p.Glu317Gly) c.766A>G n.148A>G c.358A>G c.808A>G (p.Asn270Asp) c.998A>G (p.Glu333Gly) c.1043A>G (p.Glu348Gly) c.944A>G (p.Glu315Gly) c.590A>G (p.Glu197Gly) | |
| 1 | g.154448125A>T | CA342621592 | IL6R | c.950A>T (p.Glu317Val) c.766A>T n.148A>T c.358A>T c.808A>T (p.Asn270Tyr) c.998A>T (p.Glu333Val) c.1043A>T (p.Glu348Val) c.944A>T (p.Glu315Val) c.590A>T (p.Glu197Val) | |
| 1 | g.154448126A>C | CA342621596 | IL6R | c.951A>C (p.Glu317Asp) c.767A>C n.149A>C c.359A>C c.809A>C (p.Asn270Thr) c.999A>C (p.Glu333Asp) c.1044A>C (p.Glu348Asp) c.945A>C (p.Glu315Asp) c.591A>C (p.Glu197Asp) | |
| 1 | g.154448126A>G | CA420974941 | IL6R | c.951A>G (p.Glu317=) c.767A>G n.149A>G c.359A>G c.809A>G (p.Asn270Ser) c.999A>G (p.Glu333=) c.1044A>G (p.Glu348=) c.945A>G (p.Glu315=) c.591A>G (p.Glu197=) | |
| 1 | g.154448126A>T | CA342621597 | IL6R | c.951A>T (p.Glu317Asp) c.767A>T n.149A>T c.359A>T c.809A>T (p.Asn270Ile) c.999A>T (p.Glu333Asp) c.1044A>T (p.Glu348Asp) c.945A>T (p.Glu315Asp) c.591A>T (p.Glu197Asp) | |
| 1 | g.154448127T>A | CA342621601 | IL6R | c.952T>A (p.Ser318Thr) c.768T>A n.150T>A c.360T>A c.810T>A (p.Asn270Lys) c.1000T>A (p.Ser334Thr) c.1045T>A (p.Ser349Thr) c.946T>A (p.Ser316Thr) c.592T>A (p.Ser198Thr) | |
| 1 | g.154448127T>C | CA342621603 | IL6R | c.952T>C (p.Ser318Pro) c.768T>C n.150T>C c.360T>C c.810T>C (p.Asn270=) c.1000T>C (p.Ser334Pro) c.1045T>C (p.Ser349Pro) c.946T>C (p.Ser316Pro) c.592T>C (p.Ser198Pro) | |
| 1 | g.154448127T>G | CA342621606 | IL6R | c.952T>G (p.Ser318Ala) c.768T>G n.150T>G c.360T>G c.810T>G (p.Asn270Lys) c.1000T>G (p.Ser334Ala) c.1045T>G (p.Ser349Ala) c.946T>G (p.Ser316Ala) c.592T>G (p.Ser198Ala) | |
| 1 | g.154448128C>A | CA342621608 | IL6R | c.953C>A (p.Ser318Tyr) c.769C>A n.151C>A c.361C>A c.811C>A (p.Pro271Thr) c.1001C>A (p.Ser334Tyr) c.1046C>A (p.Ser349Tyr) c.947C>A (p.Ser316Tyr) c.593C>A (p.Ser198Tyr) | |
| 1 | g.154448128C>G | CA342621609 | IL6R | c.953C>G (p.Ser318Cys) c.769C>G n.151C>G c.361C>G c.811C>G (p.Pro271Ala) c.1001C>G (p.Ser334Cys) c.1046C>G (p.Ser349Cys) c.947C>G (p.Ser316Cys) c.593C>G (p.Ser198Cys) | |
| 1 | g.154448128C>T | CA342621610 | IL6R | c.953C>T (p.Ser318Phe) c.769C>T n.151C>T c.361C>T c.811C>T (p.Pro271Ser) c.1001C>T (p.Ser334Phe) c.1046C>T (p.Ser349Phe) c.947C>T (p.Ser316Phe) c.593C>T (p.Ser198Phe) | |
| 1 | g.154448129C>A | CA420974944 | IL6R | c.954C>A (p.Ser318=) c.770C>A n.152C>A c.362C>A c.812C>A (p.Pro271Gln) c.1002C>A (p.Ser334=) c.1047C>A (p.Ser349=) c.948C>A (p.Ser316=) c.594C>A (p.Ser198=) | |
| 1 | g.154448129C>G | CA420974946 | IL6R | c.954C>G (p.Ser318=) c.770C>G n.152C>G c.362C>G c.812C>G (p.Pro271Arg) c.1002C>G (p.Ser334=) c.1047C>G (p.Ser349=) c.948C>G (p.Ser316=) c.594C>G (p.Ser198=) | |
| 1 | g.154448129C>T | CA420974949 | IL6R | c.954C>T (p.Ser318=) c.770C>T n.152C>T c.362C>T c.812C>T (p.Pro271Leu) c.1002C>T (p.Ser334=) c.1047C>T (p.Ser349=) c.948C>T (p.Ser316=) c.594C>T (p.Ser198=) | |
| 1 | g.154448130A>C | CA420974952 | IL6R | c.955A>C (p.Arg319=) c.771A>C n.153A>C c.363A>C c.813A>C (p.Pro271=) c.1003A>C (p.Arg335=) c.1048A>C (p.Arg350=) c.949A>C (p.Arg317=) c.595A>C (p.Arg199=) | |
| 1 | g.154448130A>G | CA342621613 | IL6R | c.955A>G (p.Arg319Gly) c.771A>G n.153A>G c.363A>G c.813A>G (p.Pro271=) c.1003A>G (p.Arg335Gly) c.1048A>G (p.Arg350Gly) c.949A>G (p.Arg317Gly) c.595A>G (p.Arg199Gly) | |
| 1 | g.154448130A>T | CA342621612 | IL6R | c.955A>T (p.Arg319Trp) c.771A>T n.153A>T c.363A>T c.813A>T (p.Pro271=) c.1003A>T (p.Arg335Trp) c.1048A>T (p.Arg350Trp) c.949A>T (p.Arg317Trp) c.595A>T (p.Arg199Trp) | gnomAD v4 |
| 1 | g.154448131G>A | CA342621618 | IL6R | c.956G>A (p.Arg319Lys) c.772G>A n.154G>A c.364G>A c.814G>A (p.Gly272Arg) c.1004G>A (p.Arg335Lys) c.1049G>A (p.Arg350Lys) c.950G>A (p.Arg317Lys) c.596G>A (p.Arg199Lys) | |
| 1 | g.154448131G>C | CA342621620 | IL6R | c.956G>C (p.Arg319Thr) c.772G>C n.154G>C c.364G>C c.814G>C (p.Gly272Arg) c.1004G>C (p.Arg335Thr) c.1049G>C (p.Arg350Thr) c.950G>C (p.Arg317Thr) c.596G>C (p.Arg199Thr) | |
| 1 | g.154448131G>T | CA342621621 | IL6R | c.956G>T (p.Arg319Met) c.772G>T n.154G>T c.364G>T c.814G>T (p.Gly272Ter) c.1004G>T (p.Arg335Met) c.1049G>T (p.Arg350Met) c.950G>T (p.Arg317Met) c.596G>T (p.Arg199Met) | |
| 1 | g.154448132G>A | CA30807299 | IL6R | c.957G>A (p.Arg319=) c.773G>A n.155G>A c.365G>A c.815G>A (p.Gly272Glu) c.1005G>A (p.Arg335=) c.1050G>A (p.Arg350=) c.951G>A (p.Arg317=) c.597G>A (p.Arg199=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.154448132G>C | CA342621624 | IL6R | c.957G>C (p.Arg319Ser) c.773G>C n.155G>C c.365G>C c.815G>C (p.Gly272Ala) c.1005G>C (p.Arg335Ser) c.1050G>C (p.Arg350Ser) c.951G>C (p.Arg317Ser) c.597G>C (p.Arg199Ser) | |
| 1 | g.154448132G= | CA2480873184 | IL6R | c.957G= (p.Arg319=) c.773G= n.155G= c.365G= c.815G= (p.Gly272=) c.1005G= (p.Arg335=) c.1050G= (p.Arg350=) c.951G= (p.Arg317=) c.597G= (p.Arg199=) | |
| 1 | g.154448132G>T | CA342621625 | IL6R | c.957G>T (p.Arg319Ser) c.773G>T n.155G>T c.365G>T c.815G>T (p.Gly272Val) c.1005G>T (p.Arg335Ser) c.1050G>T (p.Arg350Ser) c.951G>T (p.Arg317Ser) c.597G>T (p.Arg199Ser) | gnomAD v4 |
| 1 | g.154448133A>C | CA342621635 | IL6R | c.958A>C (p.Ser320Arg) c.774A>C n.156A>C c.366A>C c.816A>C (p.Gly272=) c.1006A>C (p.Ser336Arg) c.1051A>C (p.Ser351Arg) c.952A>C (p.Ser318Arg) c.598A>C (p.Ser200Arg) | |
| 1 | g.154448133A>G | CA342621629 | IL6R | c.958A>G (p.Ser320Gly) c.774A>G n.156A>G c.366A>G c.816A>G (p.Gly272=) c.1006A>G (p.Ser336Gly) c.1051A>G (p.Ser351Gly) c.952A>G (p.Ser318Gly) c.598A>G (p.Ser200Gly) | |
| 1 | g.154448133A>T | CA342621633 | IL6R | c.958A>T (p.Ser320Cys) c.774A>T n.156A>T c.366A>T c.816A>T (p.Gly272=) c.1006A>T (p.Ser336Cys) c.1051A>T (p.Ser351Cys) c.952A>T (p.Ser318Cys) c.598A>T (p.Ser200Cys) | |
| 1 | g.154448133_154448155delinsAGTCCTCCAGCTGAGAACGAGGT | CA2480873185 | IL6R | c.958_980delinsAGTCCTCCAGCTGAGAACGAGGT (p.Ser320=) c.774_796delinsAGTCCTCCAGCTGAGAACGAGGT n.156_178delinsAGTCCTCCAGCTGAGAACGAGGT c.366_388delinsAGTCCTCCAGCTGAGAACGAGGT c.816_838delinsAGTCCTCCAGCTGAGAACGAGGT (p.Gly272=) c.1006_1028delinsAGTCCTCCAGCTGAGAACGAGGT (p.Ser336=) c.1051_1073delinsAGTCCTCCAGCTGAGAACGAGGT (p.Ser351=) c.952_974delinsAGTCCTCCAGCTGAGAACGAGGT (p.Ser318=) c.598_620delinsAGTCCTCCAGCTGAGAACGAGGT (p.Ser200=) | |
| 1 | g.154448134G>A | CA342621643 | IL6R | c.959G>A (p.Ser320Asn) c.775G>A n.157G>A c.367G>A c.817G>A (p.Val273Ile) c.1007G>A (p.Ser336Asn) c.1052G>A (p.Ser351Asn) c.953G>A (p.Ser318Asn) c.599G>A (p.Ser200Asn) | |
| 1 | g.154448134G>C | CA342621645 | IL6R | c.959G>C (p.Ser320Thr) c.775G>C n.157G>C c.367G>C c.817G>C (p.Val273Leu) c.1007G>C (p.Ser336Thr) c.1052G>C (p.Ser351Thr) c.953G>C (p.Ser318Thr) c.599G>C (p.Ser200Thr) | |
| 1 | g.154448134G>T | CA342621646 | IL6R | c.959G>T (p.Ser320Ile) c.775G>T n.157G>T c.367G>T c.817G>T (p.Val273Phe) c.1007G>T (p.Ser336Ile) c.1052G>T (p.Ser351Ile) c.953G>T (p.Ser318Ile) c.599G>T (p.Ser200Ile) | gnomAD v4 |
| 1 | g.154448138_154448159del | CA889590685 | IL6R | c.963_984del (p.Ala323ProfsTer?) c.779_800del n.161_182del c.371_392del c.821_842del (p.Leu274HisfsTer9) c.1011_1032del (p.Ala339ProfsTer?) c.1056_1077del (p.Ala354ProfsTer?) c.957_978del (p.Ala321ProfsTer?) c.603_624del (p.Ala203ProfsTer?) | dbSNP |
| 1 | g.154448135T>A | CA342621647 | IL6R | c.960T>A (p.Ser320Arg) c.776T>A n.158T>A c.368T>A c.818T>A (p.Val273Asp) c.1008T>A (p.Ser336Arg) c.1053T>A (p.Ser351Arg) c.954T>A (p.Ser318Arg) c.600T>A (p.Ser200Arg) | |
| 1 | g.154448135T>C | CA420974961 | IL6R | c.960T>C (p.Ser320=) c.776T>C n.158T>C c.368T>C c.818T>C (p.Val273Ala) c.1008T>C (p.Ser336=) c.1053T>C (p.Ser351=) c.954T>C (p.Ser318=) c.600T>C (p.Ser200=) | |
| 1 | g.154448135T>G | CA342621648 | IL6R | c.960T>G (p.Ser320Arg) c.776T>G n.158T>G c.368T>G c.818T>G (p.Val273Gly) c.1008T>G (p.Ser336Arg) c.1053T>G (p.Ser351Arg) c.954T>G (p.Ser318Arg) c.600T>G (p.Ser200Arg) | |
| 1 | g.154448136C>A | CA342621652 | IL6R | c.961C>A (p.Pro321Thr) c.777C>A n.159C>A c.369C>A c.819C>A (p.Val273=) c.1009C>A (p.Pro337Thr) c.1054C>A (p.Pro352Thr) c.955C>A (p.Pro319Thr) c.601C>A (p.Pro201Thr) | |
| 1 | g.154448136C= | CA2480873186 | IL6R | c.961C= (p.Pro321=) c.777C= n.159C= c.369C= c.819C= (p.Val273=) c.1009C= (p.Pro337=) c.1054C= (p.Pro352=) c.955C= (p.Pro319=) c.601C= (p.Pro201=) | |
| 1 | g.154448136C>G | CA342621663 | IL6R | c.961C>G (p.Pro321Ala) c.777C>G n.159C>G c.369C>G c.819C>G (p.Val273=) c.1009C>G (p.Pro337Ala) c.1054C>G (p.Pro352Ala) c.955C>G (p.Pro319Ala) c.601C>G (p.Pro201Ala) | |
| 1 | g.154448136C>T | CA1129210 | IL6R | c.961C>T (p.Pro321Ser) c.777C>T n.159C>T c.369C>T c.819C>T (p.Val273=) c.1009C>T (p.Pro337Ser) c.1054C>T (p.Pro352Ser) c.955C>T (p.Pro319Ser) c.601C>T (p.Pro201Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154448137C>A | CA342621665 | IL6R | c.962C>A (p.Pro321His) c.778C>A n.160C>A c.370C>A c.820C>A (p.Leu274Ile) c.1010C>A (p.Pro337His) c.1055C>A (p.Pro352His) c.956C>A (p.Pro319His) c.602C>A (p.Pro201His) | |
| 1 | g.154448137C= | CA2480873187 | IL6R | c.962C= (p.Pro321=) c.778C= n.160C= c.370C= c.820C= (p.Leu274=) c.1010C= (p.Pro337=) c.1055C= (p.Pro352=) c.956C= (p.Pro319=) c.602C= (p.Pro201=) | |
| 1 | g.154448137C>G | CA342621667 | IL6R | c.962C>G (p.Pro321Arg) c.778C>G n.160C>G c.370C>G c.820C>G (p.Leu274Val) c.1010C>G (p.Pro337Arg) c.1055C>G (p.Pro352Arg) c.956C>G (p.Pro319Arg) c.602C>G (p.Pro201Arg) | |
| 1 | g.154448137C>T | CA1129211 | IL6R | c.962C>T (p.Pro321Leu) c.778C>T n.160C>T c.370C>T c.820C>T (p.Leu274Phe) c.1010C>T (p.Pro337Leu) c.1055C>T (p.Pro352Leu) c.956C>T (p.Pro319Leu) c.602C>T (p.Pro201Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154448138T>A | CA420974963 | IL6R | c.963T>A (p.Pro321=) c.779T>A n.161T>A c.371T>A c.821T>A (p.Leu274His) c.1011T>A (p.Pro337=) c.1056T>A (p.Pro352=) c.957T>A (p.Pro319=) c.603T>A (p.Pro201=) | |
| 1 | g.154448138T>C | CA420974964 | IL6R | c.963T>C (p.Pro321=) c.779T>C n.161T>C c.371T>C c.821T>C (p.Leu274Pro) c.1011T>C (p.Pro337=) c.1056T>C (p.Pro352=) c.957T>C (p.Pro319=) c.603T>C (p.Pro201=) | |
| 1 | g.154448138T>G | CA420974965 | IL6R | c.963T>G (p.Pro321=) c.779T>G n.161T>G c.371T>G c.821T>G (p.Leu274Arg) c.1011T>G (p.Pro337=) c.1056T>G (p.Pro352=) c.957T>G (p.Pro319=) c.603T>G (p.Pro201=) |