| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.113127561_113134033del | CA235502 | ClinVar | ||
| 2 | g.113132723_113132726del | CA2499214957 | IL1RN | c.284_287del (p.Asp95ValfsTer?) c.*156_*159del (n.*156_*159del) n.331_334del c.386_389del (p.Asp129ValfsTer?) c.395_398del (p.Asp132ValfsTer?) c.332_335del (p.Asp111ValfsTer?) | ClinVar dbSNP |
| 2 | g.113132723del | CA2660765819 | IL1RN | c.284del (p.Asp95AlafsTer?) c.*156del (n.*156del) n.331del c.386del (p.Asp129AlafsTer?) c.395del (p.Asp132AlafsTer?) c.332del (p.Asp111AlafsTer?) | gnomAD v4 |
| 2 | g.113132723A>C | CA348296066 | IL1RN | c.284A>C (p.Asp95Ala) c.*156A>C (n.*156A>C) n.331A>C c.386A>C (p.Asp129Ala) c.395A>C (p.Asp132Ala) c.332A>C (p.Asp111Ala) | |
| 2 | g.113132723A>G | CA348296068 | IL1RN | c.284A>G (p.Asp95Gly) c.*156A>G (n.*156A>G) n.331A>G c.386A>G (p.Asp129Gly) c.395A>G (p.Asp132Gly) c.332A>G (p.Asp111Gly) | |
| 2 | g.113132723A>T | CA348296065 | IL1RN | c.284A>T (p.Asp95Val) c.*156A>T (n.*156A>T) n.331A>T c.386A>T (p.Asp129Val) c.395A>T (p.Asp132Val) c.332A>T (p.Asp111Val) | COSMIC COSMIC COSMIC |
| 2 | g.113132724C>A | CA348296069 | IL1RN | c.285C>A (p.Asp95Glu) c.*157C>A (n.*157C>A) n.332C>A c.387C>A (p.Asp129Glu) c.396C>A (p.Asp132Glu) c.333C>A (p.Asp111Glu) | |
| 2 | g.113132724C= | CA1280073322 | IL1RN | c.285C= (p.Asp95=) c.*157C= (n.*157C=) n.332C= c.387C= (p.Asp129=) c.396C= (p.Asp132=) c.333C= (p.Asp111=) | |
| 2 | g.113132724C>G | CA53697692 | IL1RN | c.285C>G (p.Asp95Glu) c.*157C>G (n.*157C>G) n.332C>G c.387C>G (p.Asp129Glu) c.396C>G (p.Asp132Glu) c.333C>G (p.Asp111Glu) | dbSNP gnomAD v4 |
| 2 | g.113132724C>T | CA428554451 | IL1RN | c.285C>T (p.Asp95=) c.*157C>T (n.*157C>T) n.332C>T c.387C>T (p.Asp129=) c.396C>T (p.Asp132=) c.333C>T (p.Asp111=) | |
| 2 | g.113132725A= | CA1280073323 | IL1RN | c.286A= (p.Ser96=) c.*158A= (n.*158A=) n.333A= c.388A= (p.Ser130=) c.397A= (p.Ser133=) c.334A= (p.Ser112=) | |
| 2 | g.113132725A>C | CA348296072 | IL1RN | c.286A>C (p.Ser96Arg) c.*158A>C (n.*158A>C) n.333A>C c.388A>C (p.Ser130Arg) c.397A>C (p.Ser133Arg) c.334A>C (p.Ser112Arg) | gnomAD v4 |
| 2 | g.113132725A>G | CA348296073 | IL1RN | c.286A>G (p.Ser96Gly) c.*158A>G (n.*158A>G) n.333A>G c.388A>G (p.Ser130Gly) c.397A>G (p.Ser133Gly) c.334A>G (p.Ser112Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132725A>T | CA348296075 | IL1RN | c.286A>T (p.Ser96Cys) c.*158A>T (n.*158A>T) n.333A>T c.388A>T (p.Ser130Cys) c.397A>T (p.Ser133Cys) c.334A>T (p.Ser112Cys) | |
| 2 | g.113132726G>A | CA348296080 | IL1RN | c.287G>A (p.Ser96Asn) c.*159G>A (n.*159G>A) n.334G>A c.389G>A (p.Ser130Asn) c.398G>A (p.Ser133Asn) c.335G>A (p.Ser112Asn) | dbSNP gnomAD v4 |
| 2 | g.113132726G>C | CA348296079 | IL1RN | c.287G>C (p.Ser96Thr) c.*159G>C (n.*159G>C) n.334G>C c.389G>C (p.Ser130Thr) c.398G>C (p.Ser133Thr) c.335G>C (p.Ser112Thr) | gnomAD v4 |
| 2 | g.113132726G= | CA1280073324 | IL1RN | c.287G= (p.Ser96=) c.*159G= (n.*159G=) n.334G= c.389G= (p.Ser130=) c.398G= (p.Ser133=) c.335G= (p.Ser112=) | |
| 2 | g.113132726G>T | CA348296078 | IL1RN | c.287G>T (p.Ser96Ile) c.*159G>T (n.*159G>T) n.334G>T c.389G>T (p.Ser130Ile) c.398G>T (p.Ser133Ile) c.335G>T (p.Ser112Ile) | |
| 2 | g.113132726_113132727insCGGC | CA2660765820 | IL1RN | c.287_288insCGGC (p.Pro98TrpfsTer7) c.*159_*160insCGGC (n.*159_*160insCGGC) n.334_335insCGGC c.389_390insCGGC (p.Pro132TrpfsTer7) c.398_399insCGGC (p.Pro135TrpfsTer7) c.335_336insCGGC (p.Pro114TrpfsTer7) | gnomAD v4 |
| 2 | g.113132727T>A | CA1838891 | IL1RN | c.288T>A (p.Ser96Arg) c.*160T>A (n.*160T>A) n.335T>A c.390T>A (p.Ser130Arg) c.399T>A (p.Ser133Arg) c.336T>A (p.Ser112Arg) | dbSNP ExAC |
| 2 | g.113132727T>C | CA1838890 | IL1RN | c.288T>C (p.Ser96=) c.*160T>C (n.*160T>C) n.335T>C c.390T>C (p.Ser130=) c.399T>C (p.Ser133=) c.336T>C (p.Ser112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132727T>G | CA348296084 | IL1RN | c.288T>G (p.Ser96Arg) c.*160T>G (n.*160T>G) n.335T>G c.390T>G (p.Ser130Arg) c.399T>G (p.Ser133Arg) c.336T>G (p.Ser112Arg) | |
| 2 | g.113132727T= | CA1280073325 | IL1RN | c.288T= (p.Ser96=) c.*160T= (n.*160T=) n.335T= c.390T= (p.Ser130=) c.399T= (p.Ser133=) c.336T= (p.Ser112=) | |
| 2 | g.113132727_113132728delinsCA | CA2580063758 | IL1RN | c.288_289delinsCA (p.Gly97Ser) c.*160_*161delinsCA (n.*160_*161delinsCA) n.335_336delinsCA c.390_391delinsCA (p.Gly131Ser) c.399_400delinsCA (p.Gly134Ser) c.336_337delinsCA (p.Gly113Ser) | ClinVar |
| 2 | g.113132728G>A | CA348296086 | IL1RN | c.289G>A (p.Gly97Ser) c.*161G>A (n.*161G>A) n.336G>A c.391G>A (p.Gly131Ser) c.400G>A (p.Gly134Ser) c.337G>A (p.Gly113Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.113132728G>C | CA348296087 | IL1RN | c.289G>C (p.Gly97Arg) c.*161G>C (n.*161G>C) n.336G>C c.391G>C (p.Gly131Arg) c.400G>C (p.Gly134Arg) c.337G>C (p.Gly113Arg) | |
| 2 | g.113132728G= | CA1280073326 | IL1RN | c.289G= (p.Gly97=) c.*161G= (n.*161G=) n.336G= c.391G= (p.Gly131=) c.400G= (p.Gly134=) c.337G= (p.Gly113=) | |
| 2 | g.113132728G>T | CA348296088 | IL1RN | c.289G>T (p.Gly97Cys) c.*161G>T (n.*161G>T) n.336G>T c.391G>T (p.Gly131Cys) c.400G>T (p.Gly134Cys) c.337G>T (p.Gly113Cys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.113132729G>A | CA348296089 | IL1RN | c.290G>A (p.Gly97Asp) c.*162G>A (n.*162G>A) n.337G>A c.392G>A (p.Gly131Asp) c.401G>A (p.Gly134Asp) c.338G>A (p.Gly113Asp) | |
| 2 | g.113132729G>C | CA348296091 | IL1RN | c.290G>C (p.Gly97Ala) c.*162G>C (n.*162G>C) n.337G>C c.392G>C (p.Gly131Ala) c.401G>C (p.Gly134Ala) c.338G>C (p.Gly113Ala) | |
| 2 | g.113132729G>T | CA348296090 | IL1RN | c.290G>T (p.Gly97Val) c.*162G>T (n.*162G>T) n.337G>T c.392G>T (p.Gly131Val) c.401G>T (p.Gly134Val) c.338G>T (p.Gly113Val) | |
| 2 | g.113132730C>A | CA428554455 | IL1RN | c.291C>A (p.Gly97=) c.*163C>A (n.*163C>A) n.338C>A c.393C>A (p.Gly131=) c.402C>A (p.Gly134=) c.339C>A (p.Gly113=) | |
| 2 | g.113132730C= | CA1280073327 | IL1RN | c.291C= (p.Gly97=) c.*163C= (n.*163C=) n.338C= c.393C= (p.Gly131=) c.402C= (p.Gly134=) c.339C= (p.Gly113=) | |
| 2 | g.113132730C>G | CA428554456 | IL1RN | c.291C>G (p.Gly97=) c.*163C>G (n.*163C>G) n.338C>G c.393C>G (p.Gly131=) c.402C>G (p.Gly134=) c.339C>G (p.Gly113=) | gnomAD v4 |
| 2 | g.113132730C>T | CA428554457 | IL1RN | c.291C>T (p.Gly97=) c.*163C>T (n.*163C>T) n.338C>T c.393C>T (p.Gly131=) c.402C>T (p.Gly134=) c.339C>T (p.Gly113=) | dbSNP gnomAD v4 |
| 2 | g.113132733del | CA2660765821 | IL1RN | c.294del (p.Thr99ProfsTer?) c.*166del (n.*166del) n.341del c.396del (p.Thr133ProfsTer?) c.405del (p.Thr136ProfsTer?) c.342del (p.Thr115ProfsTer?) | gnomAD v4 |
| 2 | g.113132731C>A | CA348296092 | IL1RN | c.292C>A (p.Pro98Thr) c.*164C>A (n.*164C>A) n.339C>A c.394C>A (p.Pro132Thr) c.403C>A (p.Pro135Thr) c.340C>A (p.Pro114Thr) | |
| 2 | g.113132731C>G | CA348296093 | IL1RN | c.292C>G (p.Pro98Ala) c.*164C>G (n.*164C>G) n.339C>G c.394C>G (p.Pro132Ala) c.403C>G (p.Pro135Ala) c.340C>G (p.Pro114Ala) | |
| 2 | g.113132731C>T | CA348296094 | IL1RN | c.292C>T (p.Pro98Ser) c.*164C>T (n.*164C>T) n.339C>T c.394C>T (p.Pro132Ser) c.403C>T (p.Pro135Ser) c.340C>T (p.Pro114Ser) | |
| 2 | g.113132732C>A | CA348296095 | IL1RN | c.293C>A (p.Pro98His) c.*165C>A (n.*165C>A) n.340C>A c.395C>A (p.Pro132His) c.404C>A (p.Pro135His) c.341C>A (p.Pro114His) | |
| 2 | g.113132732C>G | CA348296096 | IL1RN | c.293C>G (p.Pro98Arg) c.*165C>G (n.*165C>G) n.340C>G c.395C>G (p.Pro132Arg) c.404C>G (p.Pro135Arg) c.341C>G (p.Pro114Arg) | |
| 2 | g.113132732C>T | CA348296097 | IL1RN | c.293C>T (p.Pro98Leu) c.*165C>T (n.*165C>T) n.340C>T c.395C>T (p.Pro132Leu) c.404C>T (p.Pro135Leu) c.341C>T (p.Pro114Leu) | |
| 2 | g.113132733C>A | CA428554461 | IL1RN | c.294C>A (p.Pro98=) c.*166C>A (n.*166C>A) n.341C>A c.396C>A (p.Pro132=) c.405C>A (p.Pro135=) c.342C>A (p.Pro114=) | |
| 2 | g.113132733C>G | CA428554462 | IL1RN | c.294C>G (p.Pro98=) c.*166C>G (n.*166C>G) n.341C>G c.396C>G (p.Pro132=) c.405C>G (p.Pro135=) c.342C>G (p.Pro114=) | ClinVar |
| 2 | g.113132733C>T | CA428554460 | IL1RN | c.294C>T (p.Pro98=) c.*166C>T (n.*166C>T) n.341C>T c.396C>T (p.Pro132=) c.405C>T (p.Pro135=) c.342C>T (p.Pro114=) | |
| 2 | g.113132734A= | CA1280073328 | IL1RN | c.295A= (p.Thr99=) c.*167A= (n.*167A=) n.342A= c.397A= (p.Thr133=) c.406A= (p.Thr136=) c.343A= (p.Thr115=) | |
| 2 | g.113132734A>C | CA348296098 | IL1RN | c.295A>C (p.Thr99Pro) c.*167A>C (n.*167A>C) n.342A>C c.397A>C (p.Thr133Pro) c.406A>C (p.Thr136Pro) c.343A>C (p.Thr115Pro) | |
| 2 | g.113132734A>G | CA1838892 | IL1RN | c.295A>G (p.Thr99Ala) c.*167A>G (n.*167A>G) n.342A>G c.397A>G (p.Thr133Ala) c.406A>G (p.Thr136Ala) c.343A>G (p.Thr115Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132734A>T | CA348296099 | IL1RN | c.295A>T (p.Thr99Ser) c.*167A>T (n.*167A>T) n.342A>T c.397A>T (p.Thr133Ser) c.406A>T (p.Thr136Ser) c.343A>T (p.Thr115Ser) | |
| 2 | g.113132735C>A | CA348296100 | IL1RN | c.296C>A (p.Thr99Asn) c.*168C>A (n.*168C>A) n.343C>A c.398C>A (p.Thr133Asn) c.407C>A (p.Thr136Asn) c.344C>A (p.Thr115Asn) | |
| 2 | g.113132735C>G | CA348296101 | IL1RN | c.296C>G (p.Thr99Ser) c.*168C>G (n.*168C>G) n.343C>G c.398C>G (p.Thr133Ser) c.407C>G (p.Thr136Ser) c.344C>G (p.Thr115Ser) | |
| 2 | g.113132735C>T | CA348296102 | IL1RN | c.296C>T (p.Thr99Ile) c.*168C>T (n.*168C>T) n.343C>T c.398C>T (p.Thr133Ile) c.407C>T (p.Thr136Ile) c.344C>T (p.Thr115Ile) | |
| 2 | g.113132736C>A | CA428554465 | IL1RN | c.297C>A (p.Thr99=) c.*169C>A (n.*169C>A) n.344C>A c.399C>A (p.Thr133=) c.408C>A (p.Thr136=) c.345C>A (p.Thr115=) | |
| 2 | g.113132736C>G | CA428554464 | IL1RN | c.297C>G (p.Thr99=) c.*169C>G (n.*169C>G) n.344C>G c.399C>G (p.Thr133=) c.408C>G (p.Thr136=) c.345C>G (p.Thr115=) | |
| 2 | g.113132736C>T | CA428554463 | IL1RN | c.297C>T (p.Thr99=) c.*169C>T (n.*169C>T) n.344C>T c.399C>T (p.Thr133=) c.408C>T (p.Thr136=) c.345C>T (p.Thr115=) | |
| 2 | g.113132737A>C | CA348296103 | IL1RN | c.298A>C (p.Thr100Pro) c.*170A>C (n.*170A>C) n.345A>C c.400A>C (p.Thr134Pro) c.409A>C (p.Thr137Pro) c.346A>C (p.Thr116Pro) | |
| 2 | g.113132737A>G | CA348296105 | IL1RN | c.298A>G (p.Thr100Ala) c.*170A>G (n.*170A>G) n.345A>G c.400A>G (p.Thr134Ala) c.409A>G (p.Thr137Ala) c.346A>G (p.Thr116Ala) | |
| 2 | g.113132737A>T | CA348296104 | IL1RN | c.298A>T (p.Thr100Ser) c.*170A>T (n.*170A>T) n.345A>T c.400A>T (p.Thr134Ser) c.409A>T (p.Thr137Ser) c.346A>T (p.Thr116Ser) | |
| 2 | g.113132738C>A | CA348296106 | IL1RN | c.299C>A (p.Thr100Asn) c.*171C>A (n.*171C>A) n.346C>A c.401C>A (p.Thr134Asn) c.410C>A (p.Thr137Asn) c.347C>A (p.Thr116Asn) | |
| 2 | g.113132738C= | CA1280073329 | IL1RN | c.299C= (p.Thr100=) c.*171C= (n.*171C=) n.346C= c.401C= (p.Thr134=) c.410C= (p.Thr137=) c.347C= (p.Thr116=) | |
| 2 | g.113132738C>G | CA348296107 | IL1RN | c.299C>G (p.Thr100Ser) c.*171C>G (n.*171C>G) n.346C>G c.401C>G (p.Thr134Ser) c.410C>G (p.Thr137Ser) c.347C>G (p.Thr116Ser) | |
| 2 | g.113132738C>T | CA1838893 | IL1RN | c.299C>T (p.Thr100Ile) c.*171C>T (n.*171C>T) n.346C>T c.401C>T (p.Thr134Ile) c.410C>T (p.Thr137Ile) c.347C>T (p.Thr116Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132739C>A | CA428554468 | IL1RN | c.300C>A (p.Thr100=) c.*172C>A (n.*172C>A) n.347C>A c.402C>A (p.Thr134=) c.411C>A (p.Thr137=) c.348C>A (p.Thr116=) | gnomAD v4 |
| 2 | g.113132739C= | CA1280073330 | IL1RN | c.300C= (p.Thr100=) c.*172C= (n.*172C=) n.347C= c.402C= (p.Thr134=) c.411C= (p.Thr137=) c.348C= (p.Thr116=) | |
| 2 | g.113132739C>G | CA428554470 | IL1RN | c.300C>G (p.Thr100=) c.*172C>G (n.*172C>G) n.347C>G c.402C>G (p.Thr134=) c.411C>G (p.Thr137=) c.348C>G (p.Thr116=) | gnomAD v4 |
| 2 | g.113132739C>T | CA428554469 | IL1RN | c.300C>T (p.Thr100=) c.*172C>T (n.*172C>T) n.347C>T c.402C>T (p.Thr134=) c.411C>T (p.Thr137=) c.348C>T (p.Thr116=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132740A>C | CA348296108 | IL1RN | c.301A>C (p.Ser101Arg) c.*173A>C (n.*173A>C) n.348A>C c.403A>C (p.Ser135Arg) c.412A>C (p.Ser138Arg) c.349A>C (p.Ser117Arg) | |
| 2 | g.113132740A>G | CA348296110 | IL1RN | c.301A>G (p.Ser101Gly) c.*173A>G (n.*173A>G) n.348A>G c.403A>G (p.Ser135Gly) c.412A>G (p.Ser138Gly) c.349A>G (p.Ser117Gly) | |
| 2 | g.113132740A>T | CA348296109 | IL1RN | c.301A>T (p.Ser101Cys) c.*173A>T (n.*173A>T) n.348A>T c.403A>T (p.Ser135Cys) c.412A>T (p.Ser138Cys) c.349A>T (p.Ser117Cys) | |
| 2 | g.113132741G>A | CA348296111 | IL1RN | c.302G>A (p.Ser101Asn) c.*174G>A (n.*174G>A) n.349G>A c.404G>A (p.Ser135Asn) c.413G>A (p.Ser138Asn) c.350G>A (p.Ser117Asn) | |
| 2 | g.113132741G>C | CA348296113 | IL1RN | c.302G>C (p.Ser101Thr) c.*174G>C (n.*174G>C) n.349G>C c.404G>C (p.Ser135Thr) c.413G>C (p.Ser138Thr) c.350G>C (p.Ser117Thr) | |
| 2 | g.113132741G>T | CA348296112 | IL1RN | c.302G>T (p.Ser101Ile) c.*174G>T (n.*174G>T) n.349G>T c.404G>T (p.Ser135Ile) c.413G>T (p.Ser138Ile) c.350G>T (p.Ser117Ile) | |
| 2 | g.113132742T>A | CA348296114 | IL1RN | c.303T>A (p.Ser101Arg) c.*175T>A (n.*175T>A) n.350T>A c.405T>A (p.Ser135Arg) c.414T>A (p.Ser138Arg) c.351T>A (p.Ser117Arg) | |
| 2 | g.113132742T>C | CA428554473 | IL1RN | c.303T>C (p.Ser101=) c.*175T>C (n.*175T>C) n.350T>C c.405T>C (p.Ser135=) c.414T>C (p.Ser138=) c.351T>C (p.Ser117=) | |
| 2 | g.113132742T>G | CA348296115 | IL1RN | c.303T>G (p.Ser101Arg) c.*175T>G (n.*175T>G) n.350T>G c.405T>G (p.Ser135Arg) c.414T>G (p.Ser138Arg) c.351T>G (p.Ser117Arg) | |
| 2 | g.113132743T>A | CA348296116 | IL1RN | c.304T>A (p.Phe102Ile) c.*176T>A (n.*176T>A) n.351T>A c.406T>A (p.Phe136Ile) c.415T>A (p.Phe139Ile) c.352T>A (p.Phe118Ile) | |
| 2 | g.113132743T>C | CA348296117 | IL1RN | c.304T>C (p.Phe102Leu) c.*176T>C (n.*176T>C) n.351T>C c.406T>C (p.Phe136Leu) c.415T>C (p.Phe139Leu) c.352T>C (p.Phe118Leu) | |
| 2 | g.113132743T>G | CA348296118 | IL1RN | c.304T>G (p.Phe102Val) c.*176T>G (n.*176T>G) n.351T>G c.406T>G (p.Phe136Val) c.415T>G (p.Phe139Val) c.352T>G (p.Phe118Val) | |
| 2 | g.113132744T>A | CA348296119 | IL1RN | c.305T>A (p.Phe102Tyr) c.*177T>A (n.*177T>A) n.352T>A c.407T>A (p.Phe136Tyr) c.416T>A (p.Phe139Tyr) c.353T>A (p.Phe118Tyr) | |
| 2 | g.113132744T>C | CA348296120 | IL1RN | c.305T>C (p.Phe102Ser) c.*177T>C (n.*177T>C) n.352T>C c.407T>C (p.Phe136Ser) c.416T>C (p.Phe139Ser) c.353T>C (p.Phe118Ser) | |
| 2 | g.113132744T>G | CA348296121 | IL1RN | c.305T>G (p.Phe102Cys) c.*177T>G (n.*177T>G) n.352T>G c.407T>G (p.Phe136Cys) c.416T>G (p.Phe139Cys) c.353T>G (p.Phe118Cys) | |
| 2 | g.113132745T>A | CA348296122 | IL1RN | c.306T>A (p.Phe102Leu) c.*178T>A (n.*178T>A) n.353T>A c.408T>A (p.Phe136Leu) c.417T>A (p.Phe139Leu) c.354T>A (p.Phe118Leu) | |
| 2 | g.113132745T>C | CA428554474 | IL1RN | c.306T>C (p.Phe102=) c.*178T>C (n.*178T>C) n.353T>C c.408T>C (p.Phe136=) c.417T>C (p.Phe139=) c.354T>C (p.Phe118=) | gnomAD v4 |
| 2 | g.113132745T>G | CA348296123 | IL1RN | c.306T>G (p.Phe102Leu) c.*178T>G (n.*178T>G) n.353T>G c.408T>G (p.Phe136Leu) c.417T>G (p.Phe139Leu) c.354T>G (p.Phe118Leu) | gnomAD v4 |
| 2 | g.113132746G>A | CA348296124 | IL1RN | c.307G>A (p.Glu103Lys) c.*179G>A (n.*179G>A) n.354G>A c.409G>A (p.Glu137Lys) c.418G>A (p.Glu140Lys) c.355G>A (p.Glu119Lys) | gnomAD v4 |
| 2 | g.113132746G>C | CA348296125 | IL1RN | c.307G>C (p.Glu103Gln) c.*179G>C (n.*179G>C) n.354G>C c.409G>C (p.Glu137Gln) c.418G>C (p.Glu140Gln) c.355G>C (p.Glu119Gln) | |
| 2 | g.113132746G>T | CA348296126 | IL1RN | c.307G>T (p.Glu103Ter) c.*179G>T (n.*179G>T) n.354G>T c.409G>T (p.Glu137Ter) c.418G>T (p.Glu140Ter) c.355G>T (p.Glu119Ter) | |
| 2 | g.113132747A= | CA1280073331 | IL1RN | c.308A= (p.Glu103=) c.*180A= (n.*180A=) n.355A= c.410A= (p.Glu137=) c.419A= (p.Glu140=) c.356A= (p.Glu119=) | |
| 2 | g.113132747A>C | CA348296127 | IL1RN | c.308A>C (p.Glu103Ala) c.*180A>C (n.*180A>C) n.355A>C c.410A>C (p.Glu137Ala) c.419A>C (p.Glu140Ala) c.356A>C (p.Glu119Ala) | |
| 2 | g.113132747A>G | CA348296129 | IL1RN | c.308A>G (p.Glu103Gly) c.*180A>G (n.*180A>G) n.355A>G c.410A>G (p.Glu137Gly) c.419A>G (p.Glu140Gly) c.356A>G (p.Glu119Gly) | |
| 2 | g.113132747A>T | CA348296128 | IL1RN | c.308A>T (p.Glu103Val) c.*180A>T (n.*180A>T) n.355A>T c.410A>T (p.Glu137Val) c.419A>T (p.Glu140Val) c.356A>T (p.Glu119Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132748G>A | CA428554480 | IL1RN | c.309G>A (p.Glu103=) c.*181G>A (n.*181G>A) n.356G>A c.411G>A (p.Glu137=) c.420G>A (p.Glu140=) c.357G>A (p.Glu119=) | |
| 2 | g.113132748G>C | CA348296130 | IL1RN | c.309G>C (p.Glu103Asp) c.*181G>C (n.*181G>C) n.356G>C c.411G>C (p.Glu137Asp) c.420G>C (p.Glu140Asp) c.357G>C (p.Glu119Asp) | |
| 2 | g.113132748G>T | CA348296131 | IL1RN | c.309G>T (p.Glu103Asp) c.*181G>T (n.*181G>T) n.356G>T c.411G>T (p.Glu137Asp) c.420G>T (p.Glu140Asp) c.357G>T (p.Glu119Asp) | |
| 2 | g.113132749T>A | CA348296132 | IL1RN | c.310T>A (p.Ser104Thr) c.*182T>A (n.*182T>A) n.357T>A c.412T>A (p.Ser138Thr) c.421T>A (p.Ser141Thr) c.358T>A (p.Ser120Thr) | |
| 2 | g.113132749T>C | CA348296133 | IL1RN | c.310T>C (p.Ser104Pro) c.*182T>C (n.*182T>C) n.357T>C c.412T>C (p.Ser138Pro) c.421T>C (p.Ser141Pro) c.358T>C (p.Ser120Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132749T>G | CA348296134 | IL1RN | c.310T>G (p.Ser104Ala) c.*182T>G (n.*182T>G) n.357T>G c.412T>G (p.Ser138Ala) c.421T>G (p.Ser141Ala) c.358T>G (p.Ser120Ala) | dbSNP gnomAD v4 |
| 2 | g.113132749T= | CA1280073332 | IL1RN | c.310T= (p.Ser104=) c.*182T= (n.*182T=) n.357T= c.412T= (p.Ser138=) c.421T= (p.Ser141=) c.358T= (p.Ser120=) | |
| 2 | g.113132750C>A | CA348296135 | IL1RN | c.311C>A (p.Ser104Tyr) c.*183C>A (n.*183C>A) n.358C>A c.413C>A (p.Ser138Tyr) c.422C>A (p.Ser141Tyr) c.359C>A (p.Ser120Tyr) | |
| 2 | g.113132750C>G | CA348296136 | IL1RN | c.311C>G (p.Ser104Cys) c.*183C>G (n.*183C>G) n.358C>G c.413C>G (p.Ser138Cys) c.422C>G (p.Ser141Cys) c.359C>G (p.Ser120Cys) | |
| 2 | g.113132750C>T | CA348296137 | IL1RN | c.311C>T (p.Ser104Phe) c.*183C>T (n.*183C>T) n.358C>T c.413C>T (p.Ser138Phe) c.422C>T (p.Ser141Phe) c.359C>T (p.Ser120Phe) | |
| 2 | g.113132751T>A | CA428554483 | IL1RN | c.312T>A (p.Ser104=) c.*184T>A (n.*184T>A) n.359T>A c.414T>A (p.Ser138=) c.423T>A (p.Ser141=) c.360T>A (p.Ser120=) | |
| 2 | g.113132751T>C | CA1838894 | IL1RN | c.312T>C (p.Ser104=) c.*184T>C (n.*184T>C) n.359T>C c.414T>C (p.Ser138=) c.423T>C (p.Ser141=) c.360T>C (p.Ser120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132751T>G | CA428554484 | IL1RN | c.312T>G (p.Ser104=) c.*184T>G (n.*184T>G) n.359T>G c.414T>G (p.Ser138=) c.423T>G (p.Ser141=) c.360T>G (p.Ser120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132751T= | CA1280073333 | IL1RN | c.312T= (p.Ser104=) c.*184T= (n.*184T=) n.359T= c.414T= (p.Ser138=) c.423T= (p.Ser141=) c.360T= (p.Ser120=) | |
| 2 | g.113132752G>A | CA348296140 | IL1RN | c.313G>A (p.Ala105Thr) c.*185G>A (n.*185G>A) n.360G>A c.415G>A (p.Ala139Thr) c.424G>A (p.Ala142Thr) c.361G>A (p.Ala121Thr) | dbSNP |
| 2 | g.113132752G>C | CA348296139 | IL1RN | c.313G>C (p.Ala105Pro) c.*185G>C (n.*185G>C) n.360G>C c.415G>C (p.Ala139Pro) c.424G>C (p.Ala142Pro) c.361G>C (p.Ala121Pro) | |
| 2 | g.113132752G>T | CA348296138 | IL1RN | c.313G>T (p.Ala105Ser) c.*185G>T (n.*185G>T) n.360G>T c.415G>T (p.Ala139Ser) c.424G>T (p.Ala142Ser) c.361G>T (p.Ala121Ser) | |
| 2 | g.113132753C>A | CA348296141 | IL1RN | c.314C>A (p.Ala105Asp) c.*186C>A (n.*186C>A) n.361C>A c.416C>A (p.Ala139Asp) c.425C>A (p.Ala142Asp) c.362C>A (p.Ala121Asp) | COSMIC COSMIC |
| 2 | g.113132753C>G | CA348296142 | IL1RN | c.314C>G (p.Ala105Gly) c.*186C>G (n.*186C>G) n.361C>G c.416C>G (p.Ala139Gly) c.425C>G (p.Ala142Gly) c.362C>G (p.Ala121Gly) | |
| 2 | g.113132753C>T | CA348296143 | IL1RN | c.314C>T (p.Ala105Val) c.*186C>T (n.*186C>T) n.361C>T c.416C>T (p.Ala139Val) c.425C>T (p.Ala142Val) c.362C>T (p.Ala121Val) | |
| 2 | g.113132754C>A | CA428554490 | IL1RN | c.315C>A (p.Ala105=) c.*187C>A (n.*187C>A) n.362C>A c.417C>A (p.Ala139=) c.426C>A (p.Ala142=) c.363C>A (p.Ala121=) | |
| 2 | g.113132754C= | CA1280073334 | IL1RN | c.315C= (p.Ala105=) c.*187C= (n.*187C=) n.362C= c.417C= (p.Ala139=) c.426C= (p.Ala142=) c.363C= (p.Ala121=) | |
| 2 | g.113132754C>G | CA428554491 | IL1RN | c.315C>G (p.Ala105=) c.*187C>G (n.*187C>G) n.362C>G c.417C>G (p.Ala139=) c.426C>G (p.Ala142=) c.363C>G (p.Ala121=) | |
| 2 | g.113132754C>T | CA1838895 | IL1RN | c.315C>T (p.Ala105=) c.*187C>T (n.*187C>T) n.362C>T c.417C>T (p.Ala139=) c.426C>T (p.Ala142=) c.363C>T (p.Ala121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132755G>A | CA1838896 | IL1RN | c.316G>A (p.Ala106Thr) c.*188G>A (n.*188G>A) n.363G>A c.418G>A (p.Ala140Thr) c.427G>A (p.Ala143Thr) c.364G>A (p.Ala122Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132755G>C | CA348296144 | IL1RN | c.316G>C (p.Ala106Pro) c.*188G>C (n.*188G>C) n.363G>C c.418G>C (p.Ala140Pro) c.427G>C (p.Ala143Pro) c.364G>C (p.Ala122Pro) | |
| 2 | g.113132755G= | CA1280073335 | IL1RN | c.316G= (p.Ala106=) c.*188G= (n.*188G=) n.363G= c.418G= (p.Ala140=) c.427G= (p.Ala143=) c.364G= (p.Ala122=) | |
| 2 | g.113132755G>T | CA348296145 | IL1RN | c.316G>T (p.Ala106Ser) c.*188G>T (n.*188G>T) n.363G>T c.418G>T (p.Ala140Ser) c.427G>T (p.Ala143Ser) c.364G>T (p.Ala122Ser) | gnomAD v4 |
| 2 | g.113132756C>A | CA348296146 | IL1RN | c.317C>A (p.Ala106Asp) c.*189C>A (n.*189C>A) n.364C>A c.419C>A (p.Ala140Asp) c.428C>A (p.Ala143Asp) c.365C>A (p.Ala122Asp) | |
| 2 | g.113132756C= | CA1280073336 | IL1RN | c.317C= (p.Ala106=) c.*189C= (n.*189C=) n.364C= c.419C= (p.Ala140=) c.428C= (p.Ala143=) c.365C= (p.Ala122=) | |
| 2 | g.113132756C>G | CA348296147 | IL1RN | c.317C>G (p.Ala106Gly) c.*189C>G (n.*189C>G) n.364C>G c.419C>G (p.Ala140Gly) c.428C>G (p.Ala143Gly) c.365C>G (p.Ala122Gly) | |
| 2 | g.113132756C>T | CA348296148 | IL1RN | c.317C>T (p.Ala106Val) c.*189C>T (n.*189C>T) n.364C>T c.419C>T (p.Ala140Val) c.428C>T (p.Ala143Val) c.365C>T (p.Ala122Val) | dbSNP gnomAD v4 |
| 2 | g.113132757C>A | CA428554496 | IL1RN | c.318C>A (p.Ala106=) c.*190C>A (n.*190C>A) n.365C>A c.420C>A (p.Ala140=) c.429C>A (p.Ala143=) c.366C>A (p.Ala122=) | |
| 2 | g.113132757C>G | CA428554498 | IL1RN | c.318C>G (p.Ala106=) c.*190C>G (n.*190C>G) n.365C>G c.420C>G (p.Ala140=) c.429C>G (p.Ala143=) c.366C>G (p.Ala122=) | |
| 2 | g.113132757C>T | CA428554501 | IL1RN | c.318C>T (p.Ala106=) c.*190C>T (n.*190C>T) n.365C>T c.420C>T (p.Ala140=) c.429C>T (p.Ala143=) c.366C>T (p.Ala122=) | gnomAD v4 |
| 2 | g.113132758T>A | CA348296149 | IL1RN | c.319T>A (p.Cys107Ser) c.*191T>A (n.*191T>A) n.366T>A c.421T>A (p.Cys141Ser) c.430T>A (p.Cys144Ser) c.367T>A (p.Cys123Ser) | |
| 2 | g.113132758T>C | CA348296150 | IL1RN | c.319T>C (p.Cys107Arg) c.*191T>C (n.*191T>C) n.366T>C c.421T>C (p.Cys141Arg) c.430T>C (p.Cys144Arg) c.367T>C (p.Cys123Arg) | |
| 2 | g.113132758T>G | CA348296151 | IL1RN | c.319T>G (p.Cys107Gly) c.*191T>G (n.*191T>G) n.366T>G c.421T>G (p.Cys141Gly) c.430T>G (p.Cys144Gly) c.367T>G (p.Cys123Gly) | |
| 2 | g.113132759G>A | CA348296152 | IL1RN | c.320G>A (p.Cys107Tyr) c.*192G>A (n.*192G>A) n.367G>A c.422G>A (p.Cys141Tyr) c.431G>A (p.Cys144Tyr) c.368G>A (p.Cys123Tyr) | |
| 2 | g.113132759G>C | CA348296154 | IL1RN | c.320G>C (p.Cys107Ser) c.*192G>C (n.*192G>C) n.367G>C c.422G>C (p.Cys141Ser) c.431G>C (p.Cys144Ser) c.368G>C (p.Cys123Ser) | ClinVar dbSNP |
| 2 | g.113132759G>T | CA348296153 | IL1RN | c.320G>T (p.Cys107Phe) c.*192G>T (n.*192G>T) n.367G>T c.422G>T (p.Cys141Phe) c.431G>T (p.Cys144Phe) c.368G>T (p.Cys123Phe) | |
| 2 | g.113132760C>A | CA348296155 | IL1RN | c.321C>A (p.Cys107Ter) c.*193C>A (n.*193C>A) n.368C>A c.423C>A (p.Cys141Ter) c.432C>A (p.Cys144Ter) c.369C>A (p.Cys123Ter) | |
| 2 | g.113132760C= | CA1280073337 | IL1RN | c.321C= (p.Cys107=) c.*193C= (n.*193C=) n.368C= c.423C= (p.Cys141=) c.432C= (p.Cys144=) c.369C= (p.Cys123=) | |
| 2 | g.113132760C>G | CA348296156 | IL1RN | c.321C>G (p.Cys107Trp) c.*193C>G (n.*193C>G) n.368C>G c.423C>G (p.Cys141Trp) c.432C>G (p.Cys144Trp) c.369C>G (p.Cys123Trp) | |
| 2 | g.113132760C>T | CA1838897 | IL1RN | c.321C>T (p.Cys107=) c.*193C>T (n.*193C>T) n.368C>T c.423C>T (p.Cys141=) c.432C>T (p.Cys144=) c.369C>T (p.Cys123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132761C>A | CA53697741 | IL1RN | c.322C>A (p.Pro108Thr) c.*194C>A (n.*194C>A) n.369C>A c.424C>A (p.Pro142Thr) c.433C>A (p.Pro145Thr) c.370C>A (p.Pro124Thr) | dbSNP gnomAD v4 |
| 2 | g.113132761C= | CA1280073338 | IL1RN | c.322C= (p.Pro108=) c.*194C= (n.*194C=) n.369C= c.424C= (p.Pro142=) c.433C= (p.Pro145=) c.370C= (p.Pro124=) | |
| 2 | g.113132761C>G | CA348296157 | IL1RN | c.322C>G (p.Pro108Ala) c.*194C>G (n.*194C>G) n.369C>G c.424C>G (p.Pro142Ala) c.433C>G (p.Pro145Ala) c.370C>G (p.Pro124Ala) | |
| 2 | g.113132761C>T | CA348296158 | IL1RN | c.322C>T (p.Pro108Ser) c.*194C>T (n.*194C>T) n.369C>T c.424C>T (p.Pro142Ser) c.433C>T (p.Pro145Ser) c.370C>T (p.Pro124Ser) | |
| 2 | g.113132762C>A | CA348296159 | IL1RN | c.323C>A (p.Pro108His) c.*195C>A (n.*195C>A) n.370C>A c.425C>A (p.Pro142His) c.434C>A (p.Pro145His) c.371C>A (p.Pro124His) | |
| 2 | g.113132762C>G | CA348296160 | IL1RN | c.323C>G (p.Pro108Arg) c.*195C>G (n.*195C>G) n.370C>G c.425C>G (p.Pro142Arg) c.434C>G (p.Pro145Arg) c.371C>G (p.Pro124Arg) | |
| 2 | g.113132762C>T | CA348296161 | IL1RN | c.323C>T (p.Pro108Leu) c.*195C>T (n.*195C>T) n.370C>T c.425C>T (p.Pro142Leu) c.434C>T (p.Pro145Leu) c.371C>T (p.Pro124Leu) | |
| 2 | g.113132763C>A | CA428554507 | IL1RN | c.324C>A (p.Pro108=) c.*196C>A (n.*196C>A) n.371C>A c.426C>A (p.Pro142=) c.435C>A (p.Pro145=) c.372C>A (p.Pro124=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132763C= | CA1280073339 | IL1RN | c.324C= (p.Pro108=) c.*196C= (n.*196C=) n.371C= c.426C= (p.Pro142=) c.435C= (p.Pro145=) c.372C= (p.Pro124=) | |
| 2 | g.113132763C>G | CA428554508 | IL1RN | c.324C>G (p.Pro108=) c.*196C>G (n.*196C>G) n.371C>G c.426C>G (p.Pro142=) c.435C>G (p.Pro145=) c.372C>G (p.Pro124=) | ClinVar dbSNP |
| 2 | g.113132763C>T | CA1838898 | IL1RN | c.324C>T (p.Pro108=) c.*196C>T (n.*196C>T) n.371C>T c.426C>T (p.Pro142=) c.435C>T (p.Pro145=) c.372C>T (p.Pro124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132764G>A | CA1838899 | IL1RN | c.325G>A (p.Gly109Ser) c.*197G>A (n.*197G>A) n.372G>A c.427G>A (p.Gly143Ser) c.436G>A (p.Gly146Ser) c.373G>A (p.Gly125Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132764G>C | CA348296163 | IL1RN | c.325G>C (p.Gly109Arg) c.*197G>C (n.*197G>C) n.372G>C c.427G>C (p.Gly143Arg) c.436G>C (p.Gly146Arg) c.373G>C (p.Gly125Arg) | |
| 2 | g.113132764G= | CA1280073340 | IL1RN | c.325G= (p.Gly109=) c.*197G= (n.*197G=) n.372G= c.427G= (p.Gly143=) c.436G= (p.Gly146=) c.373G= (p.Gly125=) | |
| 2 | g.113132764G>T | CA348296162 | IL1RN | c.325G>T (p.Gly109Cys) c.*197G>T (n.*197G>T) n.372G>T c.427G>T (p.Gly143Cys) c.436G>T (p.Gly146Cys) c.373G>T (p.Gly125Cys) | gnomAD v4 |
| 2 | g.113132765G>A | CA348296164 | IL1RN | c.326G>A (p.Gly109Asp) c.*198G>A (n.*198G>A) n.373G>A c.428G>A (p.Gly143Asp) c.437G>A (p.Gly146Asp) c.374G>A (p.Gly125Asp) | |
| 2 | g.113132765G>C | CA348296166 | IL1RN | c.326G>C (p.Gly109Ala) c.*198G>C (n.*198G>C) n.373G>C c.428G>C (p.Gly143Ala) c.437G>C (p.Gly146Ala) c.374G>C (p.Gly125Ala) | |
| 2 | g.113132765G>T | CA348296165 | IL1RN | c.326G>T (p.Gly109Val) c.*198G>T (n.*198G>T) n.373G>T c.428G>T (p.Gly143Val) c.437G>T (p.Gly146Val) c.374G>T (p.Gly125Val) | |
| 2 | g.113132766T>A | CA428554510 | IL1RN | c.327T>A (p.Gly109=) c.*199T>A (n.*199T>A) n.374T>A c.429T>A (p.Gly143=) c.438T>A (p.Gly146=) c.375T>A (p.Gly125=) | |
| 2 | g.113132766T>C | CA1838900 | IL1RN | c.327T>C (p.Gly109=) c.*199T>C (n.*199T>C) n.374T>C c.429T>C (p.Gly143=) c.438T>C (p.Gly146=) c.375T>C (p.Gly125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132766T>G | CA428554512 | IL1RN | c.327T>G (p.Gly109=) c.*199T>G (n.*199T>G) n.374T>G c.429T>G (p.Gly143=) c.438T>G (p.Gly146=) c.375T>G (p.Gly125=) | gnomAD v4 |
| 2 | g.113132766T= | CA1280073341 | IL1RN | c.327T= (p.Gly109=) c.*199T= (n.*199T=) n.374T= c.429T= (p.Gly143=) c.438T= (p.Gly146=) c.375T= (p.Gly125=) | |
| 2 | g.113132767T>A | CA348296167 | IL1RN | c.328T>A (p.Trp110Arg) c.*200T>A (n.*200T>A) n.375T>A c.430T>A (p.Trp144Arg) c.439T>A (p.Trp147Arg) c.376T>A (p.Trp126Arg) | |
| 2 | g.113132767T>C | CA348296168 | IL1RN | c.328T>C (p.Trp110Arg) c.*200T>C (n.*200T>C) n.375T>C c.430T>C (p.Trp144Arg) c.439T>C (p.Trp147Arg) c.376T>C (p.Trp126Arg) | gnomAD v4 |
| 2 | g.113132767T>G | CA348296169 | IL1RN | c.328T>G (p.Trp110Gly) c.*200T>G (n.*200T>G) n.375T>G c.430T>G (p.Trp144Gly) c.439T>G (p.Trp147Gly) c.376T>G (p.Trp126Gly) | |
| 2 | g.113132768G>A | CA348296170 | IL1RN | c.329G>A (p.Trp110Ter) c.*201G>A (n.*201G>A) n.376G>A c.431G>A (p.Trp144Ter) c.440G>A (p.Trp147Ter) c.377G>A (p.Trp126Ter) | |
| 2 | g.113132768G>C | CA348296171 | IL1RN | c.329G>C (p.Trp110Ser) c.*201G>C (n.*201G>C) n.376G>C c.431G>C (p.Trp144Ser) c.440G>C (p.Trp147Ser) c.377G>C (p.Trp126Ser) | |
| 2 | g.113132768G= | CA1280073342 | IL1RN | c.329G= (p.Trp110=) c.*201G= (n.*201G=) n.376G= c.431G= (p.Trp144=) c.440G= (p.Trp147=) c.377G= (p.Trp126=) | |
| 2 | g.113132768G>T | CA1838901 | IL1RN | c.329G>T (p.Trp110Leu) c.*201G>T (n.*201G>T) n.376G>T c.431G>T (p.Trp144Leu) c.440G>T (p.Trp147Leu) c.377G>T (p.Trp126Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132768_113132769insCA | CA2660765822 | IL1RN | c.329_330insCA (p.Trp110CysfsTer?) c.*201_*202insCA (n.*201_*202insCA) n.376_377insCA c.431_432insCA (p.Trp144CysfsTer?) c.440_441insCA (p.Trp147CysfsTer?) c.377_378insCA (p.Trp126CysfsTer?) | gnomAD v4 |
| 2 | g.113132769G>A | CA348296172 | IL1RN | c.330G>A (p.Trp110Ter) c.*202G>A (n.*202G>A) n.377G>A c.432G>A (p.Trp144Ter) c.441G>A (p.Trp147Ter) c.378G>A (p.Trp126Ter) | |
| 2 | g.113132769G>C | CA348296173 | IL1RN | c.330G>C (p.Trp110Cys) c.*202G>C (n.*202G>C) n.377G>C c.432G>C (p.Trp144Cys) c.441G>C (p.Trp147Cys) c.378G>C (p.Trp126Cys) | |
| 2 | g.113132769G>T | CA348296174 | IL1RN | c.330G>T (p.Trp110Cys) c.*202G>T (n.*202G>T) n.377G>T c.432G>T (p.Trp144Cys) c.441G>T (p.Trp147Cys) c.378G>T (p.Trp126Cys) | gnomAD v4 |
| 2 | g.113132769_113132770insAGTC | CA2660765823 | IL1RN | c.330_331insAGTC (p.Phe111SerfsTer10) c.*202_*203insAGTC (n.*202_*203insAGTC) n.377_378insAGTC c.432_433insAGTC (p.Phe145SerfsTer10) c.441_442insAGTC (p.Phe148SerfsTer10) c.378_379insAGTC (p.Phe127SerfsTer10) | gnomAD v4 |
| 2 | g.113132770T>A | CA348296176 | IL1RN | c.331T>A (p.Phe111Ile) c.*203T>A (n.*203T>A) n.378T>A c.433T>A (p.Phe145Ile) c.442T>A (p.Phe148Ile) c.379T>A (p.Phe127Ile) | |
| 2 | g.113132770T>C | CA348296175 | IL1RN | c.331T>C (p.Phe111Leu) c.*203T>C (n.*203T>C) n.378T>C c.433T>C (p.Phe145Leu) c.442T>C (p.Phe148Leu) c.379T>C (p.Phe127Leu) | |
| 2 | g.113132770T>G | CA53697782 | IL1RN | c.331T>G (p.Phe111Val) c.*203T>G (n.*203T>G) n.378T>G c.433T>G (p.Phe145Val) c.442T>G (p.Phe148Val) c.379T>G (p.Phe127Val) | dbSNP COSMIC |
| 2 | g.113132770T= | CA1280073343 | IL1RN | c.331T= (p.Phe111=) c.*203T= (n.*203T=) n.378T= c.433T= (p.Phe145=) c.442T= (p.Phe148=) c.379T= (p.Phe127=) | |
| 2 | g.113132771T>A | CA348296177 | IL1RN | c.332T>A (p.Phe111Tyr) c.*204T>A (n.*204T>A) n.379T>A c.434T>A (p.Phe145Tyr) c.443T>A (p.Phe148Tyr) c.380T>A (p.Phe127Tyr) | |
| 2 | g.113132771T>C | CA348296178 | IL1RN | c.332T>C (p.Phe111Ser) c.*204T>C (n.*204T>C) n.379T>C c.434T>C (p.Phe145Ser) c.443T>C (p.Phe148Ser) c.380T>C (p.Phe127Ser) | |
| 2 | g.113132771T>G | CA348296179 | IL1RN | c.332T>G (p.Phe111Cys) c.*204T>G (n.*204T>G) n.379T>G c.434T>G (p.Phe145Cys) c.443T>G (p.Phe148Cys) c.380T>G (p.Phe127Cys) | gnomAD v4 |
| 2 | g.113132772C>A | CA348296180 | IL1RN | c.333C>A (p.Phe111Leu) c.*205C>A (n.*205C>A) n.380C>A c.435C>A (p.Phe145Leu) c.444C>A (p.Phe148Leu) c.381C>A (p.Phe127Leu) | |
| 2 | g.113132772C>G | CA348296181 | IL1RN | c.333C>G (p.Phe111Leu) c.*205C>G (n.*205C>G) n.380C>G c.435C>G (p.Phe145Leu) c.444C>G (p.Phe148Leu) c.381C>G (p.Phe127Leu) | |
| 2 | g.113132772C>T | CA428554520 | IL1RN | c.333C>T (p.Phe111=) c.*205C>T (n.*205C>T) n.380C>T c.435C>T (p.Phe145=) c.444C>T (p.Phe148=) c.381C>T (p.Phe127=) | COSMIC COSMIC COSMIC |
| 2 | g.113132773C>A | CA348296182 | IL1RN | c.334C>A (p.Leu112Ile) c.*206C>A (n.*206C>A) n.381C>A c.436C>A (p.Leu146Ile) c.445C>A (p.Leu149Ile) c.382C>A (p.Leu128Ile) | |
| 2 | g.113132773C>G | CA348296183 | IL1RN | c.334C>G (p.Leu112Val) c.*206C>G (n.*206C>G) n.381C>G c.436C>G (p.Leu146Val) c.445C>G (p.Leu149Val) c.382C>G (p.Leu128Val) | |
| 2 | g.113132773C>T | CA348296184 | IL1RN | c.334C>T (p.Leu112Phe) c.*206C>T (n.*206C>T) n.381C>T c.436C>T (p.Leu146Phe) c.445C>T (p.Leu149Phe) c.382C>T (p.Leu128Phe) | |
| 2 | g.113132774T>A | CA348296185 | IL1RN | c.335T>A (p.Leu112His) c.*207T>A (n.*207T>A) n.382T>A c.437T>A (p.Leu146His) c.446T>A (p.Leu149His) c.383T>A (p.Leu128His) | |
| 2 | g.113132774T>C | CA348296186 | IL1RN | c.335T>C (p.Leu112Pro) c.*207T>C (n.*207T>C) n.382T>C c.437T>C (p.Leu146Pro) c.446T>C (p.Leu149Pro) c.383T>C (p.Leu128Pro) | |
| 2 | g.113132774T>G | CA348296187 | IL1RN | c.335T>G (p.Leu112Arg) c.*207T>G (n.*207T>G) n.382T>G c.437T>G (p.Leu146Arg) c.446T>G (p.Leu149Arg) c.383T>G (p.Leu128Arg) | |
| 2 | g.113132775C>A | CA428554523 | IL1RN | c.336C>A (p.Leu112=) c.*208C>A (n.*208C>A) n.383C>A c.438C>A (p.Leu146=) c.447C>A (p.Leu149=) c.384C>A (p.Leu128=) | |
| 2 | g.113132775C>G | CA428554524 | IL1RN | c.336C>G (p.Leu112=) c.*208C>G (n.*208C>G) n.383C>G c.438C>G (p.Leu146=) c.447C>G (p.Leu149=) c.384C>G (p.Leu128=) | |
| 2 | g.113132775C>T | CA428554522 | IL1RN | c.336C>T (p.Leu112=) c.*208C>T (n.*208C>T) n.383C>T c.438C>T (p.Leu146=) c.447C>T (p.Leu149=) c.384C>T (p.Leu128=) | |
| 2 | g.113132776T>A | CA348296189 | IL1RN | c.337T>A (p.Cys113Ser) c.*209T>A (n.*209T>A) n.384T>A c.439T>A (p.Cys147Ser) c.448T>A (p.Cys150Ser) c.385T>A (p.Cys129Ser) | |
| 2 | g.113132776T>C | CA348296190 | IL1RN | c.337T>C (p.Cys113Arg) c.*209T>C (n.*209T>C) n.384T>C c.439T>C (p.Cys147Arg) c.448T>C (p.Cys150Arg) c.385T>C (p.Cys129Arg) | |
| 2 | g.113132776T>G | CA348296188 | IL1RN | c.337T>G (p.Cys113Gly) c.*209T>G (n.*209T>G) n.384T>G c.439T>G (p.Cys147Gly) c.448T>G (p.Cys150Gly) c.385T>G (p.Cys129Gly) | |
| 2 | g.113132777G>A | CA348296191 | IL1RN | c.338G>A (p.Cys113Tyr) c.*210G>A (n.*210G>A) n.385G>A c.440G>A (p.Cys147Tyr) c.449G>A (p.Cys150Tyr) c.386G>A (p.Cys129Tyr) | |
| 2 | g.113132777G>C | CA348296192 | IL1RN | c.338G>C (p.Cys113Ser) c.*210G>C (n.*210G>C) n.385G>C c.440G>C (p.Cys147Ser) c.449G>C (p.Cys150Ser) c.386G>C (p.Cys129Ser) | |
| 2 | g.113132777G>T | CA348296193 | IL1RN | c.338G>T (p.Cys113Phe) c.*210G>T (n.*210G>T) n.385G>T c.440G>T (p.Cys147Phe) c.449G>T (p.Cys150Phe) c.386G>T (p.Cys129Phe) | |
| 2 | g.113132778C>A | CA348296194 | IL1RN | c.339C>A (p.Cys113Ter) c.*211C>A (n.*211C>A) n.386C>A c.441C>A (p.Cys147Ter) c.450C>A (p.Cys150Ter) c.387C>A (p.Cys129Ter) | |
| 2 | g.113132778C>G | CA348296195 | IL1RN | c.339C>G (p.Cys113Trp) c.*211C>G (n.*211C>G) n.386C>G c.441C>G (p.Cys147Trp) c.450C>G (p.Cys150Trp) c.387C>G (p.Cys129Trp) | |
| 2 | g.113132778C>T | CA428554530 | IL1RN | c.339C>T (p.Cys113=) c.*211C>T (n.*211C>T) n.386C>T c.441C>T (p.Cys147=) c.450C>T (p.Cys150=) c.387C>T (p.Cys129=) | gnomAD v4 |
| 2 | g.113132779A>C | CA348296196 | IL1RN | c.340A>C (p.Thr114Pro) c.*212A>C (n.*212A>C) n.387A>C c.442A>C (p.Thr148Pro) c.451A>C (p.Thr151Pro) c.388A>C (p.Thr130Pro) | |
| 2 | g.113132779A>G | CA348296197 | IL1RN | c.340A>G (p.Thr114Ala) c.*212A>G (n.*212A>G) n.387A>G c.442A>G (p.Thr148Ala) c.451A>G (p.Thr151Ala) c.388A>G (p.Thr130Ala) | |
| 2 | g.113132779A>T | CA348296198 | IL1RN | c.340A>T (p.Thr114Ser) c.*212A>T (n.*212A>T) n.387A>T c.442A>T (p.Thr148Ser) c.451A>T (p.Thr151Ser) c.388A>T (p.Thr130Ser) | |
| 2 | g.113132780C>A | CA348296199 | IL1RN | c.341C>A (p.Thr114Lys) c.*213C>A (n.*213C>A) n.388C>A c.443C>A (p.Thr148Lys) c.452C>A (p.Thr151Lys) c.389C>A (p.Thr130Lys) | |
| 2 | g.113132780C>G | CA348296200 | IL1RN | c.341C>G (p.Thr114Arg) c.*213C>G (n.*213C>G) n.388C>G c.443C>G (p.Thr148Arg) c.452C>G (p.Thr151Arg) c.389C>G (p.Thr130Arg) | |
| 2 | g.113132780C>T | CA348296201 | IL1RN | c.341C>T (p.Thr114Ile) c.*213C>T (n.*213C>T) n.388C>T c.443C>T (p.Thr148Ile) c.452C>T (p.Thr151Ile) c.389C>T (p.Thr130Ile) | |
| 2 | g.113132781A= | CA1280073344 | IL1RN | c.342A= (p.Thr114=) c.*214A= (n.*214A=) n.389A= c.444A= (p.Thr148=) c.453A= (p.Thr151=) c.390A= (p.Thr130=) | |
| 2 | g.113132781A>C | CA428554538 | IL1RN | c.342A>C (p.Thr114=) c.*214A>C (n.*214A>C) n.389A>C c.444A>C (p.Thr148=) c.453A>C (p.Thr151=) c.390A>C (p.Thr130=) | |
| 2 | g.113132781A>G | CA1838902 | IL1RN | c.342A>G (p.Thr114=) c.*214A>G (n.*214A>G) n.389A>G c.444A>G (p.Thr148=) c.453A>G (p.Thr151=) c.390A>G (p.Thr130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132781A>T | CA428554540 | IL1RN | c.342A>T (p.Thr114=) c.*214A>T (n.*214A>T) n.389A>T c.444A>T (p.Thr148=) c.453A>T (p.Thr151=) c.390A>T (p.Thr130=) | |
| 2 | g.113132782G>A | CA348296203 | IL1RN | c.343G>A (p.Ala115Thr) c.*215G>A (n.*215G>A) n.390G>A c.445G>A (p.Ala149Thr) c.454G>A (p.Ala152Thr) c.391G>A (p.Ala131Thr) | |
| 2 | g.113132782G>C | CA348296204 | IL1RN | c.343G>C (p.Ala115Pro) c.*215G>C (n.*215G>C) n.390G>C c.445G>C (p.Ala149Pro) c.454G>C (p.Ala152Pro) c.391G>C (p.Ala131Pro) | |
| 2 | g.113132782G>T | CA348296202 | IL1RN | c.343G>T (p.Ala115Ser) c.*215G>T (n.*215G>T) n.390G>T c.445G>T (p.Ala149Ser) c.454G>T (p.Ala152Ser) c.391G>T (p.Ala131Ser) | |
| 2 | g.113132783C>A | CA348296205 | IL1RN | c.344C>A (p.Ala115Glu) c.*216C>A (n.*216C>A) n.391C>A c.446C>A (p.Ala149Glu) c.455C>A (p.Ala152Glu) c.392C>A (p.Ala131Glu) | |
| 2 | g.113132783C= | CA1280073345 | IL1RN | c.344C= (p.Ala115=) c.*216C= (n.*216C=) n.391C= c.446C= (p.Ala149=) c.455C= (p.Ala152=) c.392C= (p.Ala131=) | |
| 2 | g.113132783C>G | CA348296206 | IL1RN | c.344C>G (p.Ala115Gly) c.*216C>G (n.*216C>G) n.391C>G c.446C>G (p.Ala149Gly) c.455C>G (p.Ala152Gly) c.392C>G (p.Ala131Gly) | |
| 2 | g.113132783C>T | CA1838903 | IL1RN | c.344C>T (p.Ala115Val) c.*216C>T (n.*216C>T) n.391C>T c.446C>T (p.Ala149Val) c.455C>T (p.Ala152Val) c.392C>T (p.Ala131Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132784G>A | CA1838904 | IL1RN | c.345G>A (p.Ala115=) c.*217G>A (n.*217G>A) n.392G>A c.447G>A (p.Ala149=) c.456G>A (p.Ala152=) c.393G>A (p.Ala131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132784G>C | CA428554544 | IL1RN | c.345G>C (p.Ala115=) c.*217G>C (n.*217G>C) n.392G>C c.447G>C (p.Ala149=) c.456G>C (p.Ala152=) c.393G>C (p.Ala131=) | |
| 2 | g.113132784G= | CA1280073346 | IL1RN | c.345G= (p.Ala115=) c.*217G= (n.*217G=) n.392G= c.447G= (p.Ala149=) c.456G= (p.Ala152=) c.393G= (p.Ala131=) | |
| 2 | g.113132784G>T | CA428554545 | IL1RN | c.345G>T (p.Ala115=) c.*217G>T (n.*217G>T) n.392G>T c.447G>T (p.Ala149=) c.456G>T (p.Ala152=) c.393G>T (p.Ala131=) | |
| 2 | g.113132785A>C | CA348296209 | IL1RN | c.346A>C (p.Met116Leu) c.*218A>C (n.*218A>C) n.393A>C c.448A>C (p.Met150Leu) c.457A>C (p.Met153Leu) c.394A>C (p.Met132Leu) | |
| 2 | g.113132785A>G | CA348296208 | IL1RN | c.346A>G (p.Met116Val) c.*218A>G (n.*218A>G) n.393A>G c.448A>G (p.Met150Val) c.457A>G (p.Met153Val) c.394A>G (p.Met132Val) | |
| 2 | g.113132785A>T | CA348296207 | IL1RN | c.346A>T (p.Met116Leu) c.*218A>T (n.*218A>T) n.393A>T c.448A>T (p.Met150Leu) c.457A>T (p.Met153Leu) c.394A>T (p.Met132Leu) | |
| 2 | g.113132786T>A | CA348296210 | IL1RN | c.347T>A (p.Met116Lys) c.*219T>A (n.*219T>A) n.394T>A c.449T>A (p.Met150Lys) c.458T>A (p.Met153Lys) c.395T>A (p.Met132Lys) | |
| 2 | g.113132786T>C | CA1838905 | IL1RN | c.347T>C (p.Met116Thr) c.*219T>C (n.*219T>C) n.394T>C c.449T>C (p.Met150Thr) c.458T>C (p.Met153Thr) c.395T>C (p.Met132Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132786T>G | CA348296211 | IL1RN | c.347T>G (p.Met116Arg) c.*219T>G (n.*219T>G) n.394T>G c.449T>G (p.Met150Arg) c.458T>G (p.Met153Arg) c.395T>G (p.Met132Arg) | |
| 2 | g.113132786T= | CA1280073347 | IL1RN | c.347T= (p.Met116=) c.*219T= (n.*219T=) n.394T= c.449T= (p.Met150=) c.458T= (p.Met153=) c.395T= (p.Met132=) | |
| 2 | g.113132787G>A | CA348296212 | IL1RN | c.348G>A (p.Met116Ile) c.*220G>A (n.*220G>A) n.395G>A c.450G>A (p.Met150Ile) c.459G>A (p.Met153Ile) c.396G>A (p.Met132Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132787G>C | CA348296213 | IL1RN | c.348G>C (p.Met116Ile) c.*220G>C (n.*220G>C) n.395G>C c.450G>C (p.Met150Ile) c.459G>C (p.Met153Ile) c.396G>C (p.Met132Ile) | |
| 2 | g.113132787G= | CA1280073348 | IL1RN | c.348G= (p.Met116=) c.*220G= (n.*220G=) n.395G= c.450G= (p.Met150=) c.459G= (p.Met153=) c.396G= (p.Met132=) | |
| 2 | g.113132787G>T | CA348296214 | IL1RN | c.348G>T (p.Met116Ile) c.*220G>T (n.*220G>T) n.395G>T c.450G>T (p.Met150Ile) c.459G>T (p.Met153Ile) c.396G>T (p.Met132Ile) | |
| 2 | g.113132788G>A | CA348296217 | IL1RN | c.349G>A (p.Glu117Lys) c.*221G>A (n.*221G>A) n.396G>A c.451G>A (p.Glu151Lys) c.460G>A (p.Glu154Lys) c.397G>A (p.Glu133Lys) | COSMIC COSMIC COSMIC |
| 2 | g.113132788G>C | CA348296216 | IL1RN | c.349G>C (p.Glu117Gln) c.*221G>C (n.*221G>C) n.396G>C c.451G>C (p.Glu151Gln) c.460G>C (p.Glu154Gln) c.397G>C (p.Glu133Gln) | |
| 2 | g.113132788G>T | CA348296215 | IL1RN | c.349G>T (p.Glu117Ter) c.*221G>T (n.*221G>T) n.396G>T c.451G>T (p.Glu151Ter) c.460G>T (p.Glu154Ter) c.397G>T (p.Glu133Ter) | |
| 2 | g.113132789A>C | CA348296218 | IL1RN | c.350A>C (p.Glu117Ala) c.*222A>C (n.*222A>C) n.397A>C c.452A>C (p.Glu151Ala) c.461A>C (p.Glu154Ala) c.398A>C (p.Glu133Ala) | |
| 2 | g.113132789A>G | CA348296220 | IL1RN | c.350A>G (p.Glu117Gly) c.*222A>G (n.*222A>G) n.397A>G c.452A>G (p.Glu151Gly) c.461A>G (p.Glu154Gly) c.398A>G (p.Glu133Gly) | gnomAD v4 |
| 2 | g.113132789A>T | CA348296219 | IL1RN | c.350A>T (p.Glu117Val) c.*222A>T (n.*222A>T) n.397A>T c.452A>T (p.Glu151Val) c.461A>T (p.Glu154Val) c.398A>T (p.Glu133Val) | |
| 2 | g.113132790A>C | CA348296221 | IL1RN | c.351A>C (p.Glu117Asp) c.*223A>C (n.*223A>C) n.398A>C c.453A>C (p.Glu151Asp) c.462A>C (p.Glu154Asp) c.399A>C (p.Glu133Asp) | |
| 2 | g.113132790A>G | CA428554554 | IL1RN | c.351A>G (p.Glu117=) c.*223A>G (n.*223A>G) n.398A>G c.453A>G (p.Glu151=) c.462A>G (p.Glu154=) c.399A>G (p.Glu133=) | gnomAD v4 |
| 2 | g.113132790A>T | CA348296222 | IL1RN | c.351A>T (p.Glu117Asp) c.*223A>T (n.*223A>T) n.398A>T c.453A>T (p.Glu151Asp) c.462A>T (p.Glu154Asp) c.399A>T (p.Glu133Asp) | |
| 2 | g.113132791G>A | CA348296223 | IL1RN | c.352G>A (p.Ala118Thr) c.*224G>A (n.*224G>A) n.399G>A c.454G>A (p.Ala152Thr) c.463G>A (p.Ala155Thr) c.400G>A (p.Ala134Thr) | dbSNP gnomAD v4 |
| 2 | g.113132791G>C | CA348296224 | IL1RN | c.352G>C (p.Ala118Pro) c.*224G>C (n.*224G>C) n.399G>C c.454G>C (p.Ala152Pro) c.463G>C (p.Ala155Pro) c.400G>C (p.Ala134Pro) | |
| 2 | g.113132791G= | CA1280073349 | IL1RN | c.352G= (p.Ala118=) c.*224G= (n.*224G=) n.399G= c.454G= (p.Ala152=) c.463G= (p.Ala155=) c.400G= (p.Ala134=) | |
| 2 | g.113132791G>T | CA348296225 | IL1RN | c.352G>T (p.Ala118Ser) c.*224G>T (n.*224G>T) n.399G>T c.454G>T (p.Ala152Ser) c.463G>T (p.Ala155Ser) c.400G>T (p.Ala134Ser) | |
| 2 | g.113132792C>A | CA348296226 | IL1RN | c.353C>A (p.Ala118Asp) c.*225C>A (n.*225C>A) n.400C>A c.455C>A (p.Ala152Asp) c.464C>A (p.Ala155Asp) c.401C>A (p.Ala134Asp) | |
| 2 | g.113132792C>G | CA348296227 | IL1RN | c.353C>G (p.Ala118Gly) c.*225C>G (n.*225C>G) n.400C>G c.455C>G (p.Ala152Gly) c.464C>G (p.Ala155Gly) c.401C>G (p.Ala134Gly) | |
| 2 | g.113132792C>T | CA348296228 | IL1RN | c.353C>T (p.Ala118Val) c.*225C>T (n.*225C>T) n.400C>T c.455C>T (p.Ala152Val) c.464C>T (p.Ala155Val) c.401C>T (p.Ala134Val) | gnomAD v4 |
| 2 | g.113132793T>A | CA428554562 | IL1RN | c.354T>A (p.Ala118=) c.*226T>A (n.*226T>A) n.401T>A c.456T>A (p.Ala152=) c.465T>A (p.Ala155=) c.402T>A (p.Ala134=) | |
| 2 | g.113132793T>C | CA428554563 | IL1RN | c.354T>C (p.Ala118=) c.*226T>C (n.*226T>C) n.401T>C c.456T>C (p.Ala152=) c.465T>C (p.Ala155=) c.402T>C (p.Ala134=) | dbSNP |
| 2 | g.113132793T>G | CA428554564 | IL1RN | c.354T>G (p.Ala118=) c.*226T>G (n.*226T>G) n.401T>G c.456T>G (p.Ala152=) c.465T>G (p.Ala155=) c.402T>G (p.Ala134=) | |
| 2 | g.113132793T= | CA1280073350 | IL1RN | c.354T= (p.Ala118=) c.*226T= (n.*226T=) n.401T= c.456T= (p.Ala152=) c.465T= (p.Ala155=) c.402T= (p.Ala134=) | |
| 2 | g.113132794G>A | CA348296229 | IL1RN | c.355G>A (p.Asp119Asn) c.*227G>A (n.*227G>A) n.402G>A c.457G>A (p.Asp153Asn) c.466G>A (p.Asp156Asn) c.403G>A (p.Asp135Asn) | |
| 2 | g.113132794G>C | CA348296230 | IL1RN | c.355G>C (p.Asp119His) c.*227G>C (n.*227G>C) n.402G>C c.457G>C (p.Asp153His) c.466G>C (p.Asp156His) c.403G>C (p.Asp135His) | dbSNP |
| 2 | g.113132794G>T | CA348296231 | IL1RN | c.355G>T (p.Asp119Tyr) c.*227G>T (n.*227G>T) n.402G>T c.457G>T (p.Asp153Tyr) c.466G>T (p.Asp156Tyr) c.403G>T (p.Asp135Tyr) | |
| 2 | g.113132795A>C | CA348296232 | IL1RN | c.356A>C (p.Asp119Ala) c.*228A>C (n.*228A>C) n.403A>C c.458A>C (p.Asp153Ala) c.467A>C (p.Asp156Ala) c.404A>C (p.Asp135Ala) | |
| 2 | g.113132795A>G | CA348296233 | IL1RN | c.356A>G (p.Asp119Gly) c.*228A>G (n.*228A>G) n.403A>G c.458A>G (p.Asp153Gly) c.467A>G (p.Asp156Gly) c.404A>G (p.Asp135Gly) | gnomAD v4 |
| 2 | g.113132795A>T | CA348296234 | IL1RN | c.356A>T (p.Asp119Val) c.*228A>T (n.*228A>T) n.403A>T c.458A>T (p.Asp153Val) c.467A>T (p.Asp156Val) c.404A>T (p.Asp135Val) | |
| 2 | g.113132796C>A | CA348296236 | IL1RN | c.357C>A (p.Asp119Glu) c.*229C>A (n.*229C>A) n.404C>A c.459C>A (p.Asp153Glu) c.468C>A (p.Asp156Glu) c.405C>A (p.Asp135Glu) | |
| 2 | g.113132796C= | CA1280073351 | IL1RN | c.357C= (p.Asp119=) c.*229C= (n.*229C=) n.404C= c.459C= (p.Asp153=) c.468C= (p.Asp156=) c.405C= (p.Asp135=) | |
| 2 | g.113132796C>G | CA348296235 | IL1RN | c.357C>G (p.Asp119Glu) c.*229C>G (n.*229C>G) n.404C>G c.459C>G (p.Asp153Glu) c.468C>G (p.Asp156Glu) c.405C>G (p.Asp135Glu) | |
| 2 | g.113132796C>T | CA1838906 | IL1RN | c.357C>T (p.Asp119=) c.*229C>T (n.*229C>T) n.404C>T c.459C>T (p.Asp153=) c.468C>T (p.Asp156=) c.405C>T (p.Asp135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132797C>A | CA348296237 | IL1RN | c.358C>A (p.Gln120Lys) c.*230C>A (n.*230C>A) n.405C>A c.460C>A (p.Gln154Lys) c.469C>A (p.Gln157Lys) c.406C>A (p.Gln136Lys) | |
| 2 | g.113132797C>G | CA348296238 | IL1RN | c.358C>G (p.Gln120Glu) c.*230C>G (n.*230C>G) n.405C>G c.460C>G (p.Gln154Glu) c.469C>G (p.Gln157Glu) c.406C>G (p.Gln136Glu) | |
| 2 | g.113132797C>T | CA348296239 | IL1RN | c.358C>T (p.Gln120Ter) c.*230C>T (n.*230C>T) n.405C>T c.460C>T (p.Gln154Ter) c.469C>T (p.Gln157Ter) c.406C>T (p.Gln136Ter) | |
| 2 | g.113132798A>C | CA348296240 | IL1RN | c.359A>C (p.Gln120Pro) c.*231A>C (n.*231A>C) n.406A>C c.461A>C (p.Gln154Pro) c.470A>C (p.Gln157Pro) c.407A>C (p.Gln136Pro) | |
| 2 | g.113132798A>G | CA348296241 | IL1RN | c.359A>G (p.Gln120Arg) c.*231A>G (n.*231A>G) n.406A>G c.461A>G (p.Gln154Arg) c.470A>G (p.Gln157Arg) c.407A>G (p.Gln136Arg) | gnomAD v4 |
| 2 | g.113132798A>T | CA348296242 | IL1RN | c.359A>T (p.Gln120Leu) c.*231A>T (n.*231A>T) n.406A>T c.461A>T (p.Gln154Leu) c.470A>T (p.Gln157Leu) c.407A>T (p.Gln136Leu) | gnomAD v4 |
| 2 | g.113132799G>A | CA428554569 | IL1RN | c.360G>A (p.Gln120=) c.*232G>A (n.*232G>A) n.407G>A c.462G>A (p.Gln154=) c.471G>A (p.Gln157=) c.408G>A (p.Gln136=) | |
| 2 | g.113132799G>C | CA348296243 | IL1RN | c.360G>C (p.Gln120His) c.*232G>C (n.*232G>C) n.407G>C c.462G>C (p.Gln154His) c.471G>C (p.Gln157His) c.408G>C (p.Gln136His) | |
| 2 | g.113132799G>T | CA348296244 | IL1RN | c.360G>T (p.Gln120His) c.*232G>T (n.*232G>T) n.407G>T c.462G>T (p.Gln154His) c.471G>T (p.Gln157His) c.408G>T (p.Gln136His) | |
| 2 | g.113132800C>A | CA348296245 | IL1RN | c.361C>A (p.Pro121Thr) c.*233C>A (n.*233C>A) n.408C>A c.463C>A (p.Pro155Thr) c.472C>A (p.Pro158Thr) c.409C>A (p.Pro137Thr) | |
| 2 | g.113132800C>G | CA348296246 | IL1RN | c.361C>G (p.Pro121Ala) c.*233C>G (n.*233C>G) n.408C>G c.463C>G (p.Pro155Ala) c.472C>G (p.Pro158Ala) c.409C>G (p.Pro137Ala) | |
| 2 | g.113132800C>T | CA348296247 | IL1RN | c.361C>T (p.Pro121Ser) c.*233C>T (n.*233C>T) n.408C>T c.463C>T (p.Pro155Ser) c.472C>T (p.Pro158Ser) c.409C>T (p.Pro137Ser) | |
| 2 | g.113132801C>A | CA348296250 | IL1RN | c.362C>A (p.Pro121His) c.*234C>A (n.*234C>A) n.409C>A c.464C>A (p.Pro155His) c.473C>A (p.Pro158His) c.410C>A (p.Pro137His) | |
| 2 | g.113132801C>G | CA348296249 | IL1RN | c.362C>G (p.Pro121Arg) c.*234C>G (n.*234C>G) n.409C>G c.464C>G (p.Pro155Arg) c.473C>G (p.Pro158Arg) c.410C>G (p.Pro137Arg) | |
| 2 | g.113132801C>T | CA348296248 | IL1RN | c.362C>T (p.Pro121Leu) c.*234C>T (n.*234C>T) n.409C>T c.464C>T (p.Pro155Leu) c.473C>T (p.Pro158Leu) c.410C>T (p.Pro137Leu) | |
| 2 | g.113132802C>A | CA428554576 | IL1RN | c.363C>A (p.Pro121=) c.*235C>A (n.*235C>A) n.410C>A c.465C>A (p.Pro155=) c.474C>A (p.Pro158=) c.411C>A (p.Pro137=) | |
| 2 | g.113132802C= | CA1280073352 | IL1RN | c.363C= (p.Pro121=) c.*235C= (n.*235C=) n.410C= c.465C= (p.Pro155=) c.474C= (p.Pro158=) c.411C= (p.Pro137=) | |
| 2 | g.113132802C>G | CA428554577 | IL1RN | c.363C>G (p.Pro121=) c.*235C>G (n.*235C>G) n.410C>G c.465C>G (p.Pro155=) c.474C>G (p.Pro158=) c.411C>G (p.Pro137=) | gnomAD v4 |
| 2 | g.113132802C>T | CA1838907 | IL1RN | c.363C>T (p.Pro121=) c.*235C>T (n.*235C>T) n.410C>T c.465C>T (p.Pro155=) c.474C>T (p.Pro158=) c.411C>T (p.Pro137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132803G>A | CA1838908 | IL1RN | c.364G>A (p.Val122Ile) c.*236G>A (n.*236G>A) n.411G>A c.466G>A (p.Val156Ile) c.475G>A (p.Val159Ile) c.412G>A (p.Val138Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132803G>C | CA348296251 | IL1RN | c.364G>C (p.Val122Leu) c.*236G>C (n.*236G>C) n.411G>C c.466G>C (p.Val156Leu) c.475G>C (p.Val159Leu) c.412G>C (p.Val138Leu) | |
| 2 | g.113132803G= | CA1280073353 | IL1RN | c.364G= (p.Val122=) c.*236G= (n.*236G=) n.411G= c.466G= (p.Val156=) c.475G= (p.Val159=) c.412G= (p.Val138=) | |
| 2 | g.113132803G>T | CA348296252 | IL1RN | c.364G>T (p.Val122Phe) c.*236G>T (n.*236G>T) n.411G>T c.466G>T (p.Val156Phe) c.475G>T (p.Val159Phe) c.412G>T (p.Val138Phe) | |
| 2 | g.113132804T>A | CA348296253 | IL1RN | c.365T>A (p.Val122Asp) c.*237T>A (n.*237T>A) n.412T>A c.467T>A (p.Val156Asp) c.476T>A (p.Val159Asp) c.413T>A (p.Val138Asp) | |
| 2 | g.113132804T>C | CA348296254 | IL1RN | c.365T>C (p.Val122Ala) c.*237T>C (n.*237T>C) n.412T>C c.467T>C (p.Val156Ala) c.476T>C (p.Val159Ala) c.413T>C (p.Val138Ala) | |
| 2 | g.113132804T>G | CA348296255 | IL1RN | c.365T>G (p.Val122Gly) c.*237T>G (n.*237T>G) n.412T>G c.467T>G (p.Val156Gly) c.476T>G (p.Val159Gly) c.413T>G (p.Val138Gly) | |
| 2 | g.113132805C>A | CA428554581 | IL1RN | c.366C>A (p.Val122=) c.*238C>A (n.*238C>A) n.413C>A c.468C>A (p.Val156=) c.477C>A (p.Val159=) c.414C>A (p.Val138=) | |
| 2 | g.113132805C>G | CA428554584 | IL1RN | c.366C>G (p.Val122=) c.*238C>G (n.*238C>G) n.413C>G c.468C>G (p.Val156=) c.477C>G (p.Val159=) c.414C>G (p.Val138=) | |
| 2 | g.113132805C>T | CA428554588 | IL1RN | c.366C>T (p.Val122=) c.*238C>T (n.*238C>T) n.413C>T c.468C>T (p.Val156=) c.477C>T (p.Val159=) c.414C>T (p.Val138=) | |
| 2 | g.113132806A= | CA1280073354 | IL1RN | c.367A= (p.Ser123=) c.*239A= (n.*239A=) n.414A= c.469A= (p.Ser157=) c.478A= (p.Ser160=) c.415A= (p.Ser139=) | |
| 2 | g.113132806A>C | CA348296256 | IL1RN | c.367A>C (p.Ser123Arg) c.*239A>C (n.*239A>C) n.414A>C c.469A>C (p.Ser157Arg) c.478A>C (p.Ser160Arg) c.415A>C (p.Ser139Arg) | |
| 2 | g.113132806A>G | CA1838909 | IL1RN | c.367A>G (p.Ser123Gly) c.*239A>G (n.*239A>G) n.414A>G c.469A>G (p.Ser157Gly) c.478A>G (p.Ser160Gly) c.415A>G (p.Ser139Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132806A>T | CA348296257 | IL1RN | c.367A>T (p.Ser123Cys) c.*239A>T (n.*239A>T) n.414A>T c.469A>T (p.Ser157Cys) c.478A>T (p.Ser160Cys) c.415A>T (p.Ser139Cys) | |
| 2 | g.113132807G>A | CA1838910 | IL1RN | c.368G>A (p.Ser123Asn) c.*240G>A (n.*240G>A) n.415G>A c.470G>A (p.Ser157Asn) c.479G>A (p.Ser160Asn) c.416G>A (p.Ser139Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132807G>C | CA348296258 | IL1RN | c.368G>C (p.Ser123Thr) c.*240G>C (n.*240G>C) n.415G>C c.470G>C (p.Ser157Thr) c.479G>C (p.Ser160Thr) c.416G>C (p.Ser139Thr) | |
| 2 | g.113132807G= | CA1280073355 | IL1RN | c.368G= (p.Ser123=) c.*240G= (n.*240G=) n.415G= c.470G= (p.Ser157=) c.479G= (p.Ser160=) c.416G= (p.Ser139=) | |
| 2 | g.113132807G>T | CA348296259 | IL1RN | c.368G>T (p.Ser123Ile) c.*240G>T (n.*240G>T) n.415G>T c.470G>T (p.Ser157Ile) c.479G>T (p.Ser160Ile) c.416G>T (p.Ser139Ile) | |
| 2 | g.113132808C>A | CA348296261 | IL1RN | c.369C>A (p.Ser123Arg) c.*241C>A (n.*241C>A) n.416C>A c.471C>A (p.Ser157Arg) c.480C>A (p.Ser160Arg) c.417C>A (p.Ser139Arg) | |
| 2 | g.113132808C>G | CA348296260 | IL1RN | c.369C>G (p.Ser123Arg) c.*241C>G (n.*241C>G) n.416C>G c.471C>G (p.Ser157Arg) c.480C>G (p.Ser160Arg) c.417C>G (p.Ser139Arg) | |
| 2 | g.113132808C>T | CA428554598 | IL1RN | c.369C>T (p.Ser123=) c.*241C>T (n.*241C>T) n.416C>T c.471C>T (p.Ser157=) c.480C>T (p.Ser160=) c.417C>T (p.Ser139=) | |
| 2 | g.113132809C>A | CA348296262 | IL1RN | c.370C>A (p.Leu124Ile) c.*242C>A (n.*242C>A) n.417C>A c.472C>A (p.Leu158Ile) c.481C>A (p.Leu161Ile) c.418C>A (p.Leu140Ile) | |
| 2 | g.113132809C>G | CA348296263 | IL1RN | c.370C>G (p.Leu124Val) c.*242C>G (n.*242C>G) n.417C>G c.472C>G (p.Leu158Val) c.481C>G (p.Leu161Val) c.418C>G (p.Leu140Val) | |
| 2 | g.113132809C>T | CA348296264 | IL1RN | c.370C>T (p.Leu124Phe) c.*242C>T (n.*242C>T) n.417C>T c.472C>T (p.Leu158Phe) c.481C>T (p.Leu161Phe) c.418C>T (p.Leu140Phe) | gnomAD v4 |
| 2 | g.113132810T>A | CA348296265 | IL1RN | c.371T>A (p.Leu124His) c.*243T>A (n.*243T>A) n.418T>A c.473T>A (p.Leu158His) c.482T>A (p.Leu161His) c.419T>A (p.Leu140His) | |
| 2 | g.113132810T>C | CA348296266 | IL1RN | c.371T>C (p.Leu124Pro) c.*243T>C (n.*243T>C) n.418T>C c.473T>C (p.Leu158Pro) c.482T>C (p.Leu161Pro) c.419T>C (p.Leu140Pro) | |
| 2 | g.113132810T>G | CA348296267 | IL1RN | c.371T>G (p.Leu124Arg) c.*243T>G (n.*243T>G) n.418T>G c.473T>G (p.Leu158Arg) c.482T>G (p.Leu161Arg) c.419T>G (p.Leu140Arg) | |
| 2 | g.113132811C>A | CA428554600 | IL1RN | c.372C>A (p.Leu124=) c.*244C>A (n.*244C>A) n.419C>A c.474C>A (p.Leu158=) c.483C>A (p.Leu161=) c.420C>A (p.Leu140=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132811C= | CA1280073356 | IL1RN | c.372C= (p.Leu124=) c.*244C= (n.*244C=) n.419C= c.474C= (p.Leu158=) c.483C= (p.Leu161=) c.420C= (p.Leu140=) | |
| 2 | g.113132811C>G | CA428554602 | IL1RN | c.372C>G (p.Leu124=) c.*244C>G (n.*244C>G) n.419C>G c.474C>G (p.Leu158=) c.483C>G (p.Leu161=) c.420C>G (p.Leu140=) | |
| 2 | g.113132811C>T | CA428554605 | IL1RN | c.372C>T (p.Leu124=) c.*244C>T (n.*244C>T) n.419C>T c.474C>T (p.Leu158=) c.483C>T (p.Leu161=) c.420C>T (p.Leu140=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132812A>C | CA348296268 | IL1RN | c.373A>C (p.Thr125Pro) c.*245A>C (n.*245A>C) n.420A>C c.475A>C (p.Thr159Pro) c.484A>C (p.Thr162Pro) c.421A>C (p.Thr141Pro) | |
| 2 | g.113132812A>G | CA348296269 | IL1RN | c.373A>G (p.Thr125Ala) c.*245A>G (n.*245A>G) n.420A>G c.475A>G (p.Thr159Ala) c.484A>G (p.Thr162Ala) c.421A>G (p.Thr141Ala) | |
| 2 | g.113132812A>T | CA348296270 | IL1RN | c.373A>T (p.Thr125Ser) c.*245A>T (n.*245A>T) n.420A>T c.475A>T (p.Thr159Ser) c.484A>T (p.Thr162Ser) c.421A>T (p.Thr141Ser) | |
| 2 | g.113132813C>A | CA348296271 | IL1RN | c.374C>A (p.Thr125Asn) c.*246C>A (n.*246C>A) n.421C>A c.476C>A (p.Thr159Asn) c.485C>A (p.Thr162Asn) c.422C>A (p.Thr141Asn) | dbSNP gnomAD v2 |
| 2 | g.113132813C= | CA1280073357 | IL1RN | c.374C= (p.Thr125=) c.*246C= (n.*246C=) n.421C= c.476C= (p.Thr159=) c.485C= (p.Thr162=) c.422C= (p.Thr141=) | |
| 2 | g.113132813C>G | CA348296272 | IL1RN | c.374C>G (p.Thr125Ser) c.*246C>G (n.*246C>G) n.421C>G c.476C>G (p.Thr159Ser) c.485C>G (p.Thr162Ser) c.422C>G (p.Thr141Ser) | |
| 2 | g.113132813C>T | CA1838911 | IL1RN | c.374C>T (p.Thr125Ile) c.*246C>T (n.*246C>T) n.421C>T c.476C>T (p.Thr159Ile) c.485C>T (p.Thr162Ile) c.422C>T (p.Thr141Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132814C>A | CA428554612 | IL1RN | c.375C>A (p.Thr125=) c.*247C>A (n.*247C>A) n.422C>A c.477C>A (p.Thr159=) c.486C>A (p.Thr162=) c.423C>A (p.Thr141=) | |
| 2 | g.113132814C>G | CA428554609 | IL1RN | c.375C>G (p.Thr125=) c.*247C>G (n.*247C>G) n.422C>G c.477C>G (p.Thr159=) c.486C>G (p.Thr162=) c.423C>G (p.Thr141=) | |
| 2 | g.113132814C>T | CA428554608 | IL1RN | c.375C>T (p.Thr125=) c.*247C>T (n.*247C>T) n.422C>T c.477C>T (p.Thr159=) c.486C>T (p.Thr162=) c.423C>T (p.Thr141=) | |
| 2 | g.113132815A>C | CA348296275 | IL1RN | c.376A>C (p.Asn126His) c.*248A>C (n.*248A>C) n.423A>C c.478A>C (p.Asn160His) c.487A>C (p.Asn163His) c.424A>C (p.Asn142His) | |
| 2 | g.113132815A>G | CA348296274 | IL1RN | c.376A>G (p.Asn126Asp) c.*248A>G (n.*248A>G) n.423A>G c.478A>G (p.Asn160Asp) c.487A>G (p.Asn163Asp) c.424A>G (p.Asn142Asp) | COSMIC COSMIC COSMIC |
| 2 | g.113132815A>T | CA348296273 | IL1RN | c.376A>T (p.Asn126Tyr) c.*248A>T (n.*248A>T) n.423A>T c.478A>T (p.Asn160Tyr) c.487A>T (p.Asn163Tyr) c.424A>T (p.Asn142Tyr) | |
| 2 | g.113132816A>C | CA348296276 | IL1RN | c.377A>C (p.Asn126Thr) c.*249A>C (n.*249A>C) n.424A>C c.479A>C (p.Asn160Thr) c.488A>C (p.Asn163Thr) c.425A>C (p.Asn142Thr) | |
| 2 | g.113132816A>G | CA348296277 | IL1RN | c.377A>G (p.Asn126Ser) c.*249A>G (n.*249A>G) n.424A>G c.479A>G (p.Asn160Ser) c.488A>G (p.Asn163Ser) c.425A>G (p.Asn142Ser) | gnomAD v4 |
| 2 | g.113132816A>T | CA348296278 | IL1RN | c.377A>T (p.Asn126Ile) c.*249A>T (n.*249A>T) n.424A>T c.479A>T (p.Asn160Ile) c.488A>T (p.Asn163Ile) c.425A>T (p.Asn142Ile) | |
| 2 | g.113132817T>A | CA348296279 | IL1RN | c.378T>A (p.Asn126Lys) c.*250T>A (n.*250T>A) n.425T>A c.480T>A (p.Asn160Lys) c.489T>A (p.Asn163Lys) c.426T>A (p.Asn142Lys) | |
| 2 | g.113132817T>C | CA428554621 | IL1RN | c.378T>C (p.Asn126=) c.*250T>C (n.*250T>C) n.425T>C c.480T>C (p.Asn160=) c.489T>C (p.Asn163=) c.426T>C (p.Asn142=) | |
| 2 | g.113132817T>G | CA348296280 | IL1RN | c.378T>G (p.Asn126Lys) c.*250T>G (n.*250T>G) n.425T>G c.480T>G (p.Asn160Lys) c.489T>G (p.Asn163Lys) c.426T>G (p.Asn142Lys) | |
| 2 | g.113132818A>C | CA348296283 | IL1RN | c.379A>C (p.Met127Leu) c.*251A>C (n.*251A>C) n.426A>C c.481A>C (p.Met161Leu) c.490A>C (p.Met164Leu) c.427A>C (p.Met143Leu) | |
| 2 | g.113132818A>G | CA348296282 | IL1RN | c.379A>G (p.Met127Val) c.*251A>G (n.*251A>G) n.426A>G c.481A>G (p.Met161Val) c.490A>G (p.Met164Val) c.427A>G (p.Met143Val) | |
| 2 | g.113132818A>T | CA348296281 | IL1RN | c.379A>T (p.Met127Leu) c.*251A>T (n.*251A>T) n.426A>T c.481A>T (p.Met161Leu) c.490A>T (p.Met164Leu) c.427A>T (p.Met143Leu) | |
| 2 | g.113132819T>A | CA348296284 | IL1RN | c.380T>A (p.Met127Lys) c.*252T>A (n.*252T>A) n.427T>A c.482T>A (p.Met161Lys) c.491T>A (p.Met164Lys) c.428T>A (p.Met143Lys) | |
| 2 | g.113132819T>C | CA348296285 | IL1RN | c.380T>C (p.Met127Thr) c.*252T>C (n.*252T>C) n.427T>C c.482T>C (p.Met161Thr) c.491T>C (p.Met164Thr) c.428T>C (p.Met143Thr) | |
| 2 | g.113132819T>G | CA348296286 | IL1RN | c.380T>G (p.Met127Arg) c.*252T>G (n.*252T>G) n.427T>G c.482T>G (p.Met161Arg) c.491T>G (p.Met164Arg) c.428T>G (p.Met143Arg) | |
| 2 | g.113132820G>A | CA348296287 | IL1RN | c.381G>A (p.Met127Ile) c.*253G>A (n.*253G>A) n.428G>A c.483G>A (p.Met161Ile) c.492G>A (p.Met164Ile) c.429G>A (p.Met143Ile) | |
| 2 | g.113132820G>C | CA348296288 | IL1RN | c.381G>C (p.Met127Ile) c.*253G>C (n.*253G>C) n.428G>C c.483G>C (p.Met161Ile) c.492G>C (p.Met164Ile) c.429G>C (p.Met143Ile) | |
| 2 | g.113132820G>T | CA348296289 | IL1RN | c.381G>T (p.Met127Ile) c.*253G>T (n.*253G>T) n.428G>T c.483G>T (p.Met161Ile) c.492G>T (p.Met164Ile) c.429G>T (p.Met143Ile) | gnomAD v4 |
| 2 | g.113132821C>A | CA348296292 | IL1RN | c.382C>A (p.Pro128Thr) c.*254C>A (n.*254C>A) n.429C>A c.484C>A (p.Pro162Thr) c.493C>A (p.Pro165Thr) c.430C>A (p.Pro144Thr) | gnomAD v4 |
| 2 | g.113132821C>G | CA348296290 | IL1RN | c.382C>G (p.Pro128Ala) c.*254C>G (n.*254C>G) n.429C>G c.484C>G (p.Pro162Ala) c.493C>G (p.Pro165Ala) c.430C>G (p.Pro144Ala) | gnomAD v4 |
| 2 | g.113132821C>T | CA348296291 | IL1RN | c.382C>T (p.Pro128Ser) c.*254C>T (n.*254C>T) n.429C>T c.484C>T (p.Pro162Ser) c.493C>T (p.Pro165Ser) c.430C>T (p.Pro144Ser) | |
| 2 | g.113132822C>A | CA348296293 | IL1RN | c.383C>A (p.Pro128His) c.*255C>A (n.*255C>A) n.430C>A c.485C>A (p.Pro162His) c.494C>A (p.Pro165His) c.431C>A (p.Pro144His) | |
| 2 | g.113132822C= | CA1280073358 | IL1RN | c.383C= (p.Pro128=) c.*255C= (n.*255C=) n.430C= c.485C= (p.Pro162=) c.494C= (p.Pro165=) c.431C= (p.Pro144=) | |
| 2 | g.113132822C>G | CA348296294 | IL1RN | c.383C>G (p.Pro128Arg) c.*255C>G (n.*255C>G) n.430C>G c.485C>G (p.Pro162Arg) c.494C>G (p.Pro165Arg) c.431C>G (p.Pro144Arg) | |
| 2 | g.113132822C>T | CA1838912 | IL1RN | c.383C>T (p.Pro128Leu) c.*255C>T (n.*255C>T) n.430C>T c.485C>T (p.Pro162Leu) c.494C>T (p.Pro165Leu) c.431C>T (p.Pro144Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132823T>A | CA428554625 | IL1RN | c.384T>A (p.Pro128=) c.*256T>A (n.*256T>A) n.431T>A c.486T>A (p.Pro162=) c.495T>A (p.Pro165=) c.432T>A (p.Pro144=) | |
| 2 | g.113132823T>C | CA1838913 | IL1RN | c.384T>C (p.Pro128=) c.*256T>C (n.*256T>C) n.431T>C c.486T>C (p.Pro162=) c.495T>C (p.Pro165=) c.432T>C (p.Pro144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132823T>G | CA428554626 | IL1RN | c.384T>G (p.Pro128=) c.*256T>G (n.*256T>G) n.431T>G c.486T>G (p.Pro162=) c.495T>G (p.Pro165=) c.432T>G (p.Pro144=) | |
| 2 | g.113132823T= | CA1280073359 | IL1RN | c.384T= (p.Pro128=) c.*256T= (n.*256T=) n.431T= c.486T= (p.Pro162=) c.495T= (p.Pro165=) c.432T= (p.Pro144=) |