UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.113127561_113134033del | CA235502 | ClinVar | ||
| 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=) | |
| 2 | g.113132824G>A | CA348296295 | IL1RN | c.385G>A (p.Asp129Asn) c.*257G>A (n.*257G>A) n.432G>A c.487G>A (p.Asp163Asn) c.496G>A (p.Asp166Asn) c.433G>A (p.Asp145Asn) | |
| 2 | g.113132824G>C | CA348296296 | IL1RN | c.385G>C (p.Asp129His) c.*257G>C (n.*257G>C) n.432G>C c.487G>C (p.Asp163His) c.496G>C (p.Asp166His) c.433G>C (p.Asp145His) | |
| 2 | g.113132824G>T | CA348296297 | IL1RN | c.385G>T (p.Asp129Tyr) c.*257G>T (n.*257G>T) n.432G>T c.487G>T (p.Asp163Tyr) c.496G>T (p.Asp166Tyr) c.433G>T (p.Asp145Tyr) | |
| 2 | g.113132825A>C | CA348296298 | IL1RN | c.386A>C (p.Asp129Ala) c.*258A>C (n.*258A>C) n.433A>C c.488A>C (p.Asp163Ala) c.497A>C (p.Asp166Ala) c.434A>C (p.Asp145Ala) | |
| 2 | g.113132825A>G | CA348296299 | IL1RN | c.386A>G (p.Asp129Gly) c.*258A>G (n.*258A>G) n.433A>G c.488A>G (p.Asp163Gly) c.497A>G (p.Asp166Gly) c.434A>G (p.Asp145Gly) | |
| 2 | g.113132825A>T | CA348296300 | IL1RN | c.386A>T (p.Asp129Val) c.*258A>T (n.*258A>T) n.433A>T c.488A>T (p.Asp163Val) c.497A>T (p.Asp166Val) c.434A>T (p.Asp145Val) | |
| 2 | g.113132826C>A | CA53697909 | IL1RN | c.387C>A (p.Asp129Glu) c.*259C>A (n.*259C>A) n.434C>A c.489C>A (p.Asp163Glu) c.498C>A (p.Asp166Glu) c.435C>A (p.Asp145Glu) | dbSNP |
| 2 | g.113132826C= | CA1280073360 | IL1RN | c.387C= (p.Asp129=) c.*259C= (n.*259C=) n.434C= c.489C= (p.Asp163=) c.498C= (p.Asp166=) c.435C= (p.Asp145=) | |
| 2 | g.113132826C>G | CA348296301 | IL1RN | c.387C>G (p.Asp129Glu) c.*259C>G (n.*259C>G) n.434C>G c.489C>G (p.Asp163Glu) c.498C>G (p.Asp166Glu) c.435C>G (p.Asp145Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132826C>T | CA1838914 | IL1RN | c.387C>T (p.Asp129=) c.*259C>T (n.*259C>T) n.434C>T c.489C>T (p.Asp163=) c.498C>T (p.Asp166=) c.435C>T (p.Asp145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132827G>A | CA348296302 | IL1RN | c.388G>A (p.Glu130Lys) c.*260G>A (n.*260G>A) n.435G>A c.490G>A (p.Glu164Lys) c.499G>A (p.Glu167Lys) c.436G>A (p.Glu146Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.113132827G>C | CA348296303 | IL1RN | c.388G>C (p.Glu130Gln) c.*260G>C (n.*260G>C) n.435G>C c.490G>C (p.Glu164Gln) c.499G>C (p.Glu167Gln) c.436G>C (p.Glu146Gln) | |
| 2 | g.113132827G= | CA1280073361 | IL1RN | c.388G= (p.Glu130=) c.*260G= (n.*260G=) n.435G= c.490G= (p.Glu164=) c.499G= (p.Glu167=) c.436G= (p.Glu146=) | |
| 2 | g.113132827G>T | CA53697923 | IL1RN | c.388G>T (p.Glu130Ter) c.*260G>T (n.*260G>T) n.435G>T c.490G>T (p.Glu164Ter) c.499G>T (p.Glu167Ter) c.436G>T (p.Glu146Ter) | dbSNP |
| 2 | g.113132828A>C | CA348296304 | IL1RN | c.389A>C (p.Glu130Ala) c.*261A>C (n.*261A>C) n.436A>C c.491A>C (p.Glu164Ala) c.500A>C (p.Glu167Ala) c.437A>C (p.Glu146Ala) | |
| 2 | g.113132828A>G | CA348296305 | IL1RN | c.389A>G (p.Glu130Gly) c.*261A>G (n.*261A>G) n.436A>G c.491A>G (p.Glu164Gly) c.500A>G (p.Glu167Gly) c.437A>G (p.Glu146Gly) | |
| 2 | g.113132828A>T | CA348296306 | IL1RN | c.389A>T (p.Glu130Val) c.*261A>T (n.*261A>T) n.436A>T c.491A>T (p.Glu164Val) c.500A>T (p.Glu167Val) c.437A>T (p.Glu146Val) | |
| 2 | g.113132829A>C | CA348296307 | IL1RN | c.390A>C (p.Glu130Asp) c.*262A>C (n.*262A>C) n.437A>C c.492A>C (p.Glu164Asp) c.501A>C (p.Glu167Asp) c.438A>C (p.Glu146Asp) | |
| 2 | g.113132829A>G | CA428554642 | IL1RN | c.390A>G (p.Glu130=) c.*262A>G (n.*262A>G) n.437A>G c.492A>G (p.Glu164=) c.501A>G (p.Glu167=) c.438A>G (p.Glu146=) | |
| 2 | g.113132829A>T | CA348296308 | IL1RN | c.390A>T (p.Glu130Asp) c.*262A>T (n.*262A>T) n.437A>T c.492A>T (p.Glu164Asp) c.501A>T (p.Glu167Asp) c.438A>T (p.Glu146Asp) | |
| 2 | g.113132830G>A | CA348296309 | IL1RN | c.391G>A (p.Gly131Ser) c.*263G>A (n.*263G>A) n.438G>A c.493G>A (p.Gly165Ser) c.502G>A (p.Gly168Ser) c.439G>A (p.Gly147Ser) | |
| 2 | g.113132830G>C | CA348296310 | IL1RN | c.391G>C (p.Gly131Arg) c.*263G>C (n.*263G>C) n.438G>C c.493G>C (p.Gly165Arg) c.502G>C (p.Gly168Arg) c.439G>C (p.Gly147Arg) | |
| 2 | g.113132830G>T | CA348296311 | IL1RN | c.391G>T (p.Gly131Cys) c.*263G>T (n.*263G>T) n.438G>T c.493G>T (p.Gly165Cys) c.502G>T (p.Gly168Cys) c.439G>T (p.Gly147Cys) | |
| 2 | g.113132831G>A | CA348296312 | IL1RN | c.392G>A (p.Gly131Asp) c.*264G>A (n.*264G>A) n.439G>A c.494G>A (p.Gly165Asp) c.503G>A (p.Gly168Asp) c.440G>A (p.Gly147Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.113132831G>C | CA1838915 | IL1RN | c.392G>C (p.Gly131Ala) c.*264G>C (n.*264G>C) n.439G>C c.494G>C (p.Gly165Ala) c.503G>C (p.Gly168Ala) c.440G>C (p.Gly147Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132831G= | CA1280073362 | IL1RN | c.392G= (p.Gly131=) c.*264G= (n.*264G=) n.439G= c.494G= (p.Gly165=) c.503G= (p.Gly168=) c.440G= (p.Gly147=) | |
| 2 | g.113132831G>T | CA53697930 | IL1RN | c.392G>T (p.Gly131Val) c.*264G>T (n.*264G>T) n.439G>T c.494G>T (p.Gly165Val) c.503G>T (p.Gly168Val) c.440G>T (p.Gly147Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132832C>A | CA428554648 | IL1RN | c.393C>A (p.Gly131=) c.*265C>A (n.*265C>A) n.440C>A c.495C>A (p.Gly165=) c.504C>A (p.Gly168=) c.441C>A (p.Gly147=) | |
| 2 | g.113132832C= | CA1280073363 | IL1RN | c.393C= (p.Gly131=) c.*265C= (n.*265C=) n.440C= c.495C= (p.Gly165=) c.504C= (p.Gly168=) c.441C= (p.Gly147=) | |
| 2 | g.113132832C>G | CA428554650 | IL1RN | c.393C>G (p.Gly131=) c.*265C>G (n.*265C>G) n.440C>G c.495C>G (p.Gly165=) c.504C>G (p.Gly168=) c.441C>G (p.Gly147=) | |
| 2 | g.113132832C>T | CA1838916 | IL1RN | c.393C>T (p.Gly131=) c.*265C>T (n.*265C>T) n.440C>T c.495C>T (p.Gly165=) c.504C>T (p.Gly168=) c.441C>T (p.Gly147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132833G>A | CA1838917 | IL1RN | c.394G>A (p.Val132Ile) c.*266G>A (n.*266G>A) n.441G>A c.496G>A (p.Val166Ile) c.505G>A (p.Val169Ile) c.442G>A (p.Val148Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.113132833G>C | CA348296313 | IL1RN | c.394G>C (p.Val132Leu) c.*266G>C (n.*266G>C) n.441G>C c.496G>C (p.Val166Leu) c.505G>C (p.Val169Leu) c.442G>C (p.Val148Leu) | |
| 2 | g.113132833G= | CA1280073364 | IL1RN | c.394G= (p.Val132=) c.*266G= (n.*266G=) n.441G= c.496G= (p.Val166=) c.505G= (p.Val169=) c.442G= (p.Val148=) | |
| 2 | g.113132833G>T | CA348296314 | IL1RN | c.394G>T (p.Val132Phe) c.*266G>T (n.*266G>T) n.441G>T c.496G>T (p.Val166Phe) c.505G>T (p.Val169Phe) c.442G>T (p.Val148Phe) | |
| 2 | g.113132834T>A | CA348296315 | IL1RN | c.395T>A (p.Val132Asp) c.*267T>A (n.*267T>A) n.442T>A c.497T>A (p.Val166Asp) c.506T>A (p.Val169Asp) c.443T>A (p.Val148Asp) | |
| 2 | g.113132834T>C | CA1838918 | IL1RN | c.395T>C (p.Val132Ala) c.*267T>C (n.*267T>C) n.442T>C c.497T>C (p.Val166Ala) c.506T>C (p.Val169Ala) c.443T>C (p.Val148Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132834T>G | CA348296316 | IL1RN | c.395T>G (p.Val132Gly) c.*267T>G (n.*267T>G) n.442T>G c.497T>G (p.Val166Gly) c.506T>G (p.Val169Gly) c.443T>G (p.Val148Gly) | |
| 2 | g.113132834T= | CA1280073365 | IL1RN | c.395T= (p.Val132=) c.*267T= (n.*267T=) n.442T= c.497T= (p.Val166=) c.506T= (p.Val169=) c.443T= (p.Val148=) | |
| 2 | g.113132835C>A | CA428554657 | IL1RN | c.396C>A (p.Val132=) c.*268C>A (n.*268C>A) n.443C>A c.498C>A (p.Val166=) c.507C>A (p.Val169=) c.444C>A (p.Val148=) | gnomAD v4 |
| 2 | g.113132835C>G | CA428554658 | IL1RN | c.396C>G (p.Val132=) c.*268C>G (n.*268C>G) n.443C>G c.498C>G (p.Val166=) c.507C>G (p.Val169=) c.444C>G (p.Val148=) | |
| 2 | g.113132835C>T | CA428554659 | IL1RN | c.396C>T (p.Val132=) c.*268C>T (n.*268C>T) n.443C>T c.498C>T (p.Val166=) c.507C>T (p.Val169=) c.444C>T (p.Val148=) | |
| 2 | g.113132836A= | CA1280073366 | IL1RN | c.397A= (p.Met133=) c.*269A= (n.*269A=) n.444A= c.499A= (p.Met167=) c.508A= (p.Met170=) c.445A= (p.Met149=) | |
| 2 | g.113132836A>C | CA348296317 | IL1RN | c.397A>C (p.Met133Leu) c.*269A>C (n.*269A>C) n.444A>C c.499A>C (p.Met167Leu) c.508A>C (p.Met170Leu) c.445A>C (p.Met149Leu) | |
| 2 | g.113132836A>G | CA348296318 | IL1RN | c.397A>G (p.Met133Val) c.*269A>G (n.*269A>G) n.444A>G c.499A>G (p.Met167Val) c.508A>G (p.Met170Val) c.445A>G (p.Met149Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132836A>T | CA348296319 | IL1RN | c.397A>T (p.Met133Leu) c.*269A>T (n.*269A>T) n.444A>T c.499A>T (p.Met167Leu) c.508A>T (p.Met170Leu) c.445A>T (p.Met149Leu) | |
| 2 | g.113132837T>A | CA1838919 | IL1RN | c.398T>A (p.Met133Lys) c.*270T>A (n.*270T>A) n.445T>A c.500T>A (p.Met167Lys) c.509T>A (p.Met170Lys) c.446T>A (p.Met149Lys) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.113132837T>C | CA53697957 | IL1RN | c.398T>C (p.Met133Thr) c.*270T>C (n.*270T>C) n.445T>C c.500T>C (p.Met167Thr) c.509T>C (p.Met170Thr) c.446T>C (p.Met149Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132837T>G | CA348296320 | IL1RN | c.398T>G (p.Met133Arg) c.*270T>G (n.*270T>G) n.445T>G c.500T>G (p.Met167Arg) c.509T>G (p.Met170Arg) c.446T>G (p.Met149Arg) | |
| 2 | g.113132837T= | CA1280073367 | IL1RN | c.398T= (p.Met133=) c.*270T= (n.*270T=) n.445T= c.500T= (p.Met167=) c.509T= (p.Met170=) c.446T= (p.Met149=) | |
| 2 | g.113132838G>A | CA348296321 | IL1RN | c.399G>A (p.Met133Ile) c.*271G>A (n.*271G>A) n.446G>A c.501G>A (p.Met167Ile) c.510G>A (p.Met170Ile) c.447G>A (p.Met149Ile) | |
| 2 | g.113132838G>C | CA348296322 | IL1RN | c.399G>C (p.Met133Ile) c.*271G>C (n.*271G>C) n.446G>C c.501G>C (p.Met167Ile) c.510G>C (p.Met170Ile) c.447G>C (p.Met149Ile) | |
| 2 | g.113132838G= | CA1280073368 | IL1RN | c.399G= (p.Met133=) c.*271G= (n.*271G=) n.446G= c.501G= (p.Met167=) c.510G= (p.Met170=) c.447G= (p.Met149=) | |
| 2 | g.113132838G>T | CA348296323 | IL1RN | c.399G>T (p.Met133Ile) c.*271G>T (n.*271G>T) n.446G>T c.501G>T (p.Met167Ile) c.510G>T (p.Met170Ile) c.447G>T (p.Met149Ile) | dbSNP gnomAD v4 |
| 2 | g.113132839del | CA2700213190 | IL1RN | c.400del (p.Val134SerfsTer?) c.*272del (n.*272del) n.447del c.502del (p.Val168SerfsTer?) c.511del (p.Val171SerfsTer?) c.448del (p.Val150SerfsTer?) | dbSNP |
| 2 | g.113132839G>A | CA348296325 | IL1RN | c.400G>A (p.Val134Ile) c.*272G>A (n.*272G>A) n.447G>A c.502G>A (p.Val168Ile) c.511G>A (p.Val171Ile) c.448G>A (p.Val150Ile) | COSMIC COSMIC |
| 2 | g.113132839G>C | CA1838920 | IL1RN | c.400G>C (p.Val134Leu) c.*272G>C (n.*272G>C) n.447G>C c.502G>C (p.Val168Leu) c.511G>C (p.Val171Leu) c.448G>C (p.Val150Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132839G= | CA1280073369 | IL1RN | c.400G= (p.Val134=) c.*272G= (n.*272G=) n.447G= c.502G= (p.Val168=) c.511G= (p.Val171=) c.448G= (p.Val150=) | |
| 2 | g.113132839G>T | CA348296324 | IL1RN | c.400G>T (p.Val134Phe) c.*272G>T (n.*272G>T) n.447G>T c.502G>T (p.Val168Phe) c.511G>T (p.Val171Phe) c.448G>T (p.Val150Phe) | |
| 2 | g.113132840T>A | CA348296327 | IL1RN | c.401T>A (p.Val134Asp) c.*273T>A (n.*273T>A) n.448T>A c.503T>A (p.Val168Asp) c.512T>A (p.Val171Asp) c.449T>A (p.Val150Asp) | |
| 2 | g.113132840T>C | CA348296326 | IL1RN | c.401T>C (p.Val134Ala) c.*273T>C (n.*273T>C) n.448T>C c.503T>C (p.Val168Ala) c.512T>C (p.Val171Ala) c.449T>C (p.Val150Ala) | gnomAD v4 |
| 2 | g.113132840T>G | CA348296328 | IL1RN | c.401T>G (p.Val134Gly) c.*273T>G (n.*273T>G) n.448T>G c.503T>G (p.Val168Gly) c.512T>G (p.Val171Gly) c.449T>G (p.Val150Gly) | |
| 2 | g.113132841C>A | CA1838921 | IL1RN | c.402C>A (p.Val134=) c.*274C>A (n.*274C>A) n.449C>A c.504C>A (p.Val168=) c.513C>A (p.Val171=) c.450C>A (p.Val150=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132841C= | CA1280073370 | IL1RN | c.402C= (p.Val134=) c.*274C= (n.*274C=) n.449C= c.504C= (p.Val168=) c.513C= (p.Val171=) c.450C= (p.Val150=) | |
| 2 | g.113132841C>G | CA428554670 | IL1RN | c.402C>G (p.Val134=) c.*274C>G (n.*274C>G) n.449C>G c.504C>G (p.Val168=) c.513C>G (p.Val171=) c.450C>G (p.Val150=) | |
| 2 | g.113132841C>T | CA428554671 | IL1RN | c.402C>T (p.Val134=) c.*274C>T (n.*274C>T) n.449C>T c.504C>T (p.Val168=) c.513C>T (p.Val171=) c.450C>T (p.Val150=) | |
| 2 | g.113132842A>C | CA348296330 | IL1RN | c.403A>C (p.Thr135Pro) c.*275A>C (n.*275A>C) n.450A>C c.505A>C (p.Thr169Pro) c.514A>C (p.Thr172Pro) c.451A>C (p.Thr151Pro) | |
| 2 | g.113132842A>G | CA348296329 | IL1RN | c.403A>G (p.Thr135Ala) c.*275A>G (n.*275A>G) n.450A>G c.505A>G (p.Thr169Ala) c.514A>G (p.Thr172Ala) c.451A>G (p.Thr151Ala) | |
| 2 | g.113132842A>T | CA348296331 | IL1RN | c.403A>T (p.Thr135Ser) c.*275A>T (n.*275A>T) n.450A>T c.505A>T (p.Thr169Ser) c.514A>T (p.Thr172Ser) c.451A>T (p.Thr151Ser) | |
| 2 | g.113132843C>A | CA348296332 | IL1RN | c.404C>A (p.Thr135Asn) c.*276C>A (n.*276C>A) n.451C>A c.506C>A (p.Thr169Asn) c.515C>A (p.Thr172Asn) c.452C>A (p.Thr151Asn) | |
| 2 | g.113132843C>G | CA348296334 | IL1RN | c.404C>G (p.Thr135Ser) c.*276C>G (n.*276C>G) n.451C>G c.506C>G (p.Thr169Ser) c.515C>G (p.Thr172Ser) c.452C>G (p.Thr151Ser) | |
| 2 | g.113132843C>T | CA348296333 | IL1RN | c.404C>T (p.Thr135Ile) c.*276C>T (n.*276C>T) n.451C>T c.506C>T (p.Thr169Ile) c.515C>T (p.Thr172Ile) c.452C>T (p.Thr151Ile) | |
| 2 | g.113132844C>A | CA428554673 | IL1RN | c.405C>A (p.Thr135=) c.*277C>A (n.*277C>A) n.452C>A c.507C>A (p.Thr169=) c.516C>A (p.Thr172=) c.453C>A (p.Thr151=) | gnomAD v4 |
| 2 | g.113132844C>G | CA428554674 | IL1RN | c.405C>G (p.Thr135=) c.*277C>G (n.*277C>G) n.452C>G c.507C>G (p.Thr169=) c.516C>G (p.Thr172=) c.453C>G (p.Thr151=) | |
| 2 | g.113132844C>T | CA428554675 | IL1RN | c.405C>T (p.Thr135=) c.*277C>T (n.*277C>T) n.452C>T c.507C>T (p.Thr169=) c.516C>T (p.Thr172=) c.453C>T (p.Thr151=) | |
| 2 | g.113132845A>C | CA348296335 | IL1RN | c.406A>C (p.Lys136Gln) c.*278A>C (n.*278A>C) n.453A>C c.508A>C (p.Lys170Gln) c.517A>C (p.Lys173Gln) c.454A>C (p.Lys152Gln) | |
| 2 | g.113132845A>G | CA348296336 | IL1RN | c.406A>G (p.Lys136Glu) c.*278A>G (n.*278A>G) n.453A>G c.508A>G (p.Lys170Glu) c.517A>G (p.Lys173Glu) c.454A>G (p.Lys152Glu) | |
| 2 | g.113132845A>T | CA348296337 | IL1RN | c.406A>T (p.Lys136Ter) c.*278A>T (n.*278A>T) n.453A>T c.508A>T (p.Lys170Ter) c.517A>T (p.Lys173Ter) c.454A>T (p.Lys152Ter) | |
| 2 | g.113132846A>C | CA348296338 | IL1RN | c.407A>C (p.Lys136Thr) c.*279A>C (n.*279A>C) n.454A>C c.509A>C (p.Lys170Thr) c.518A>C (p.Lys173Thr) c.455A>C (p.Lys152Thr) | |
| 2 | g.113132846A>G | CA348296339 | IL1RN | c.407A>G (p.Lys136Arg) c.*279A>G (n.*279A>G) n.454A>G c.509A>G (p.Lys170Arg) c.518A>G (p.Lys173Arg) c.455A>G (p.Lys152Arg) | |
| 2 | g.113132846A>T | CA348296340 | IL1RN | c.407A>T (p.Lys136Ile) c.*279A>T (n.*279A>T) n.454A>T c.509A>T (p.Lys170Ile) c.518A>T (p.Lys173Ile) c.455A>T (p.Lys152Ile) | |
| 2 | g.113132847A>C | CA348296341 | IL1RN | c.408A>C (p.Lys136Asn) c.*280A>C (n.*280A>C) n.455A>C c.510A>C (p.Lys170Asn) c.519A>C (p.Lys173Asn) c.456A>C (p.Lys152Asn) | |
| 2 | g.113132847A>G | CA428554679 | IL1RN | c.408A>G (p.Lys136=) c.*280A>G (n.*280A>G) n.455A>G c.510A>G (p.Lys170=) c.519A>G (p.Lys173=) c.456A>G (p.Lys152=) | |
| 2 | g.113132847A>T | CA348296342 | IL1RN | c.408A>T (p.Lys136Asn) c.*280A>T (n.*280A>T) n.455A>T c.510A>T (p.Lys170Asn) c.519A>T (p.Lys173Asn) c.456A>T (p.Lys152Asn) | |
| 2 | g.113132848T>A | CA348296343 | IL1RN | c.409T>A (p.Phe137Ile) c.*281T>A (n.*281T>A) n.456T>A c.511T>A (p.Phe171Ile) c.520T>A (p.Phe174Ile) c.457T>A (p.Phe153Ile) | |
| 2 | g.113132848T>C | CA348296344 | IL1RN | c.409T>C (p.Phe137Leu) c.*281T>C (n.*281T>C) n.456T>C c.511T>C (p.Phe171Leu) c.520T>C (p.Phe174Leu) c.457T>C (p.Phe153Leu) | |
| 2 | g.113132848T>G | CA348296345 | IL1RN | c.409T>G (p.Phe137Val) c.*281T>G (n.*281T>G) n.456T>G c.511T>G (p.Phe171Val) c.520T>G (p.Phe174Val) c.457T>G (p.Phe153Val) | |
| 2 | g.113132849T>A | CA348296348 | IL1RN | c.410T>A (p.Phe137Tyr) c.*282T>A (n.*282T>A) n.457T>A c.512T>A (p.Phe171Tyr) c.521T>A (p.Phe174Tyr) c.458T>A (p.Phe153Tyr) | |
| 2 | g.113132849T>C | CA348296346 | IL1RN | c.410T>C (p.Phe137Ser) c.*282T>C (n.*282T>C) n.457T>C c.512T>C (p.Phe171Ser) c.521T>C (p.Phe174Ser) c.458T>C (p.Phe153Ser) | |
| 2 | g.113132849T>G | CA348296347 | IL1RN | c.410T>G (p.Phe137Cys) c.*282T>G (n.*282T>G) n.457T>G c.512T>G (p.Phe171Cys) c.521T>G (p.Phe174Cys) c.458T>G (p.Phe153Cys) | |
| 2 | g.113132850C>A | CA348296349 | IL1RN | c.411C>A (p.Phe137Leu) c.*283C>A (n.*283C>A) n.458C>A c.513C>A (p.Phe171Leu) c.522C>A (p.Phe174Leu) c.459C>A (p.Phe153Leu) | |
| 2 | g.113132850C>G | CA348296350 | IL1RN | c.411C>G (p.Phe137Leu) c.*283C>G (n.*283C>G) n.458C>G c.513C>G (p.Phe171Leu) c.522C>G (p.Phe174Leu) c.459C>G (p.Phe153Leu) | |
| 2 | g.113132850C>T | CA428554684 | IL1RN | c.411C>T (p.Phe137=) c.*283C>T (n.*283C>T) n.458C>T c.513C>T (p.Phe171=) c.522C>T (p.Phe174=) c.459C>T (p.Phe153=) | |
| 2 | g.113132851T>A | CA348296351 | IL1RN | c.412T>A (p.Tyr138Asn) c.*284T>A (n.*284T>A) n.459T>A c.514T>A (p.Tyr172Asn) c.523T>A (p.Tyr175Asn) c.460T>A (p.Tyr154Asn) | |
| 2 | g.113132851T>C | CA348296352 | IL1RN | c.412T>C (p.Tyr138His) c.*284T>C (n.*284T>C) n.459T>C c.514T>C (p.Tyr172His) c.523T>C (p.Tyr175His) c.460T>C (p.Tyr154His) | gnomAD v4 |
| 2 | g.113132851T>G | CA348296353 | IL1RN | c.412T>G (p.Tyr138Asp) c.*284T>G (n.*284T>G) n.459T>G c.514T>G (p.Tyr172Asp) c.523T>G (p.Tyr175Asp) c.460T>G (p.Tyr154Asp) | |
| 2 | g.113132852A>C | CA348296354 | IL1RN | c.413A>C (p.Tyr138Ser) c.*285A>C (n.*285A>C) n.460A>C c.515A>C (p.Tyr172Ser) c.524A>C (p.Tyr175Ser) c.461A>C (p.Tyr154Ser) | |
| 2 | g.113132852A>G | CA348296355 | IL1RN | c.413A>G (p.Tyr138Cys) c.*285A>G (n.*285A>G) n.460A>G c.515A>G (p.Tyr172Cys) c.524A>G (p.Tyr175Cys) c.461A>G (p.Tyr154Cys) | |
| 2 | g.113132852A>T | CA348296356 | IL1RN | c.413A>T (p.Tyr138Phe) c.*285A>T (n.*285A>T) n.460A>T c.515A>T (p.Tyr172Phe) c.524A>T (p.Tyr175Phe) c.461A>T (p.Tyr154Phe) | |
| 2 | g.113132853C>A | CA348296357 | IL1RN | c.414C>A (p.Tyr138Ter) c.*286C>A (n.*286C>A) n.461C>A c.516C>A (p.Tyr172Ter) c.525C>A (p.Tyr175Ter) c.462C>A (p.Tyr154Ter) | gnomAD v4 |
| 2 | g.113132853C= | CA1280073371 | IL1RN | c.414C= (p.Tyr138=) c.*286C= (n.*286C=) n.461C= c.516C= (p.Tyr172=) c.525C= (p.Tyr175=) c.462C= (p.Tyr154=) | |
| 2 | g.113132853C>G | CA348296358 | IL1RN | c.414C>G (p.Tyr138Ter) c.*286C>G (n.*286C>G) n.461C>G c.516C>G (p.Tyr172Ter) c.525C>G (p.Tyr175Ter) c.462C>G (p.Tyr154Ter) | |
| 2 | g.113132853C>T | CA428554690 | IL1RN | c.414C>T (p.Tyr138=) c.*286C>T (n.*286C>T) n.461C>T c.516C>T (p.Tyr172=) c.525C>T (p.Tyr175=) c.462C>T (p.Tyr154=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132854T>A | CA348296360 | IL1RN | c.415T>A (p.Phe139Ile) c.*287T>A (n.*287T>A) n.462T>A c.517T>A (p.Phe173Ile) c.526T>A (p.Phe176Ile) c.463T>A (p.Phe155Ile) | |
| 2 | g.113132854T>C | CA348296361 | IL1RN | c.415T>C (p.Phe139Leu) c.*287T>C (n.*287T>C) n.462T>C c.517T>C (p.Phe173Leu) c.526T>C (p.Phe176Leu) c.463T>C (p.Phe155Leu) | |
| 2 | g.113132854T>G | CA348296359 | IL1RN | c.415T>G (p.Phe139Val) c.*287T>G (n.*287T>G) n.462T>G c.517T>G (p.Phe173Val) c.526T>G (p.Phe176Val) c.463T>G (p.Phe155Val) | |
| 2 | g.113132855T>A | CA348296362 | IL1RN | c.416T>A (p.Phe139Tyr) c.*288T>A (n.*288T>A) n.463T>A c.518T>A (p.Phe173Tyr) c.527T>A (p.Phe176Tyr) c.464T>A (p.Phe155Tyr) | |
| 2 | g.113132855T>C | CA348296363 | IL1RN | c.416T>C (p.Phe139Ser) c.*288T>C (n.*288T>C) n.463T>C c.518T>C (p.Phe173Ser) c.527T>C (p.Phe176Ser) c.464T>C (p.Phe155Ser) | |
| 2 | g.113132855T>G | CA348296364 | IL1RN | c.416T>G (p.Phe139Cys) c.*288T>G (n.*288T>G) n.463T>G c.518T>G (p.Phe173Cys) c.527T>G (p.Phe176Cys) c.464T>G (p.Phe155Cys) | |
| 2 | g.113132856C>A | CA348296365 | IL1RN | c.417C>A (p.Phe139Leu) c.*289C>A (n.*289C>A) n.464C>A c.519C>A (p.Phe173Leu) c.528C>A (p.Phe176Leu) c.465C>A (p.Phe155Leu) | |
| 2 | g.113132856C= | CA1280073372 | IL1RN | c.417C= (p.Phe139=) c.*289C= (n.*289C=) n.464C= c.519C= (p.Phe173=) c.528C= (p.Phe176=) c.465C= (p.Phe155=) | |
| 2 | g.113132856C>G | CA348296366 | IL1RN | c.417C>G (p.Phe139Leu) c.*289C>G (n.*289C>G) n.464C>G c.519C>G (p.Phe173Leu) c.528C>G (p.Phe176Leu) c.465C>G (p.Phe155Leu) | COSMIC COSMIC COSMIC |
| 2 | g.113132856C>T | CA1838922 | IL1RN | c.417C>T (p.Phe139=) c.*289C>T (n.*289C>T) n.464C>T c.519C>T (p.Phe173=) c.528C>T (p.Phe176=) c.465C>T (p.Phe155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.113132857C>A | CA348296367 | IL1RN | c.418C>A (p.Gln140Lys) c.*290C>A (n.*290C>A) n.465C>A c.520C>A (p.Gln174Lys) c.529C>A (p.Gln177Lys) c.466C>A (p.Gln156Lys) | |
| 2 | g.113132857C= | CA1280073373 | IL1RN | c.418C= (p.Gln140=) c.*290C= (n.*290C=) n.465C= c.520C= (p.Gln174=) c.529C= (p.Gln177=) c.466C= (p.Gln156=) | |
| 2 | g.113132857C>G | CA348296368 | IL1RN | c.418C>G (p.Gln140Glu) c.*290C>G (n.*290C>G) n.465C>G c.520C>G (p.Gln174Glu) c.529C>G (p.Gln177Glu) c.466C>G (p.Gln156Glu) | |
| 2 | g.113132857C>T | CA348296369 | IL1RN | c.418C>T (p.Gln140Ter) c.*290C>T (n.*290C>T) n.465C>T c.520C>T (p.Gln174Ter) c.529C>T (p.Gln177Ter) c.466C>T (p.Gln156Ter) | dbSNP |
| 2 | g.113132858A>C | CA348296370 | IL1RN | c.419A>C (p.Gln140Pro) c.*291A>C (n.*291A>C) n.466A>C c.521A>C (p.Gln174Pro) c.530A>C (p.Gln177Pro) c.467A>C (p.Gln156Pro) | |
| 2 | g.113132858A>G | CA348296371 | IL1RN | c.419A>G (p.Gln140Arg) c.*291A>G (n.*291A>G) n.466A>G c.521A>G (p.Gln174Arg) c.530A>G (p.Gln177Arg) c.467A>G (p.Gln156Arg) | |
| 2 | g.113132858A>T | CA348296372 | IL1RN | c.419A>T (p.Gln140Leu) c.*291A>T (n.*291A>T) n.466A>T c.521A>T (p.Gln174Leu) c.530A>T (p.Gln177Leu) c.467A>T (p.Gln156Leu) | |
| 2 | g.113132859G>A | CA428554699 | IL1RN | c.420G>A (p.Gln140=) c.*292G>A (n.*292G>A) n.467G>A c.522G>A (p.Gln174=) c.531G>A (p.Gln177=) c.468G>A (p.Gln156=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132859G>C | CA348296374 | IL1RN | c.420G>C (p.Gln140His) c.*292G>C (n.*292G>C) n.467G>C c.522G>C (p.Gln174His) c.531G>C (p.Gln177His) c.468G>C (p.Gln156His) | |
| 2 | g.113132859G= | CA1280073374 | IL1RN | c.420G= (p.Gln140=) c.*292G= (n.*292G=) n.467G= c.522G= (p.Gln174=) c.531G= (p.Gln177=) c.468G= (p.Gln156=) | |
| 2 | g.113132859G>T | CA348296373 | IL1RN | c.420G>T (p.Gln140His) c.*292G>T (n.*292G>T) n.467G>T c.522G>T (p.Gln174His) c.531G>T (p.Gln177His) c.468G>T (p.Gln156His) | |
| 2 | g.113132860G>A | CA348296375 | IL1RN | c.421G>A (p.Glu141Lys) c.*293G>A (n.*293G>A) n.468G>A c.523G>A (p.Glu175Lys) c.532G>A (p.Glu178Lys) c.469G>A (p.Glu157Lys) | COSMIC COSMIC COSMIC |
| 2 | g.113132860G>C | CA348296376 | IL1RN | c.421G>C (p.Glu141Gln) c.*293G>C (n.*293G>C) n.468G>C c.523G>C (p.Glu175Gln) c.532G>C (p.Glu178Gln) c.469G>C (p.Glu157Gln) | |
| 2 | g.113132860G>T | CA348296377 | IL1RN | c.421G>T (p.Glu141Ter) c.*293G>T (n.*293G>T) n.468G>T c.523G>T (p.Glu175Ter) c.532G>T (p.Glu178Ter) c.469G>T (p.Glu157Ter) | |
| 2 | g.113132861A>C | CA348296378 | IL1RN | c.422A>C (p.Glu141Ala) c.*294A>C (n.*294A>C) n.469A>C c.524A>C (p.Glu175Ala) c.533A>C (p.Glu178Ala) c.470A>C (p.Glu157Ala) | gnomAD v4 |
| 2 | g.113132861A>G | CA348296379 | IL1RN | c.422A>G (p.Glu141Gly) c.*294A>G (n.*294A>G) n.469A>G c.524A>G (p.Glu175Gly) c.533A>G (p.Glu178Gly) c.470A>G (p.Glu157Gly) | |
| 2 | g.113132861A>T | CA348296380 | IL1RN | c.422A>T (p.Glu141Val) c.*294A>T (n.*294A>T) n.469A>T c.524A>T (p.Glu175Val) c.533A>T (p.Glu178Val) c.470A>T (p.Glu157Val) | |
| 2 | g.113132862G>A | CA428554704 | IL1RN | c.423G>A (p.Glu141=) c.*295G>A (n.*295G>A) n.470G>A c.525G>A (p.Glu175=) c.534G>A (p.Glu178=) c.471G>A (p.Glu157=) | gnomAD v4 |
| 2 | g.113132862G>C | CA348296381 | IL1RN | c.423G>C (p.Glu141Asp) c.*295G>C (n.*295G>C) n.470G>C c.525G>C (p.Glu175Asp) c.534G>C (p.Glu178Asp) c.471G>C (p.Glu157Asp) | |
| 2 | g.113132862G>T | CA348296382 | IL1RN | c.423G>T (p.Glu141Asp) c.*295G>T (n.*295G>T) n.470G>T c.525G>T (p.Glu175Asp) c.534G>T (p.Glu178Asp) c.471G>T (p.Glu157Asp) | |
| 2 | g.113132863G>A | CA348296383 | IL1RN | c.424G>A (p.Asp142Asn) c.*296G>A (n.*296G>A) n.471G>A c.526G>A (p.Asp176Asn) c.535G>A (p.Asp179Asn) c.472G>A (p.Asp158Asn) | ClinVar dbSNP gnomAD v4 |
| 2 | g.113132863G>C | CA348296384 | IL1RN | c.424G>C (p.Asp142His) c.*296G>C (n.*296G>C) n.471G>C c.526G>C (p.Asp176His) c.535G>C (p.Asp179His) c.472G>C (p.Asp158His) | |
| 2 | g.113132863G= | CA1280073375 | IL1RN | c.424G= (p.Asp142=) c.*296G= (n.*296G=) n.471G= c.526G= (p.Asp176=) c.535G= (p.Asp179=) c.472G= (p.Asp158=) | |
| 2 | g.113132863G>T | CA348296385 | IL1RN | c.424G>T (p.Asp142Tyr) c.*296G>T (n.*296G>T) n.471G>T c.526G>T (p.Asp176Tyr) c.535G>T (p.Asp179Tyr) c.472G>T (p.Asp158Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132864A>C | CA348296386 | IL1RN | c.425A>C (p.Asp142Ala) c.*297A>C (n.*297A>C) n.472A>C c.527A>C (p.Asp176Ala) c.536A>C (p.Asp179Ala) c.473A>C (p.Asp158Ala) | |
| 2 | g.113132864A>G | CA348296387 | IL1RN | c.425A>G (p.Asp142Gly) c.*297A>G (n.*297A>G) n.472A>G c.527A>G (p.Asp176Gly) c.536A>G (p.Asp179Gly) c.473A>G (p.Asp158Gly) | gnomAD v4 |
| 2 | g.113132864A>T | CA348296388 | IL1RN | c.425A>T (p.Asp142Val) c.*297A>T (n.*297A>T) n.472A>T c.527A>T (p.Asp176Val) c.536A>T (p.Asp179Val) c.473A>T (p.Asp158Val) | |
| 2 | g.113132865C>A | CA348296389 | IL1RN | c.426C>A (p.Asp142Glu) c.*298C>A (n.*298C>A) n.473C>A c.528C>A (p.Asp176Glu) c.537C>A (p.Asp179Glu) c.474C>A (p.Asp158Glu) | gnomAD v4 |
| 2 | g.113132865C= | CA1280073376 | IL1RN | c.426C= (p.Asp142=) c.*298C= (n.*298C=) n.473C= c.528C= (p.Asp176=) c.537C= (p.Asp179=) c.474C= (p.Asp158=) | |
| 2 | g.113132865C>G | CA348296390 | IL1RN | c.426C>G (p.Asp142Glu) c.*298C>G (n.*298C>G) n.473C>G c.528C>G (p.Asp176Glu) c.537C>G (p.Asp179Glu) c.474C>G (p.Asp158Glu) | |
| 2 | g.113132865C>T | CA1838923 | IL1RN | c.426C>T (p.Asp142=) c.*298C>T (n.*298C>T) n.473C>T c.528C>T (p.Asp176=) c.537C>T (p.Asp179=) c.474C>T (p.Asp158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132866G>A | CA1838924 | IL1RN | c.427G>A (p.Glu143Lys) c.*299G>A (n.*299G>A) n.474G>A c.529G>A (p.Glu177Lys) c.538G>A (p.Glu180Lys) c.475G>A (p.Glu159Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132866G>C | CA348296391 | IL1RN | c.427G>C (p.Glu143Gln) c.*299G>C (n.*299G>C) n.474G>C c.529G>C (p.Glu177Gln) c.538G>C (p.Glu180Gln) c.475G>C (p.Glu159Gln) | |
| 2 | g.113132866G= | CA1280073377 | IL1RN | c.427G= (p.Glu143=) c.*299G= (n.*299G=) n.474G= c.529G= (p.Glu177=) c.538G= (p.Glu180=) c.475G= (p.Glu159=) | |
| 2 | g.113132866G>T | CA348296392 | IL1RN | c.427G>T (p.Glu143Ter) c.*299G>T (n.*299G>T) n.474G>T c.529G>T (p.Glu177Ter) c.538G>T (p.Glu180Ter) c.475G>T (p.Glu159Ter) | |
| 2 | g.113132867A>C | CA348296393 | IL1RN | c.428A>C (p.Glu143Ala) c.*300A>C (n.*300A>C) n.475A>C c.530A>C (p.Glu177Ala) c.539A>C (p.Glu180Ala) c.476A>C (p.Glu159Ala) | |
| 2 | g.113132867A>G | CA348296394 | IL1RN | c.428A>G (p.Glu143Gly) c.*300A>G (n.*300A>G) n.475A>G c.530A>G (p.Glu177Gly) c.539A>G (p.Glu180Gly) c.476A>G (p.Glu159Gly) | |
| 2 | g.113132867A>T | CA348296395 | IL1RN | c.428A>T (p.Glu143Val) c.*300A>T (n.*300A>T) n.475A>T c.530A>T (p.Glu177Val) c.539A>T (p.Glu180Val) c.476A>T (p.Glu159Val) | |
| 2 | g.113132868G>A | CA428554710 | IL1RN | c.429G>A (p.Glu143=) c.*301G>A (n.*301G>A) n.476G>A c.531G>A (p.Glu177=) c.540G>A (p.Glu180=) c.477G>A (p.Glu159=) | |
| 2 | g.113132868G>C | CA53698008 | IL1RN | c.429G>C (p.Glu143Asp) c.*301G>C (n.*301G>C) n.476G>C c.531G>C (p.Glu177Asp) c.540G>C (p.Glu180Asp) c.477G>C (p.Glu159Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132868G= | CA1280073378 | IL1RN | c.429G= (p.Glu143=) c.*301G= (n.*301G=) n.476G= c.531G= (p.Glu177=) c.540G= (p.Glu180=) c.477G= (p.Glu159=) | |
| 2 | g.113132868G>T | CA348296396 | IL1RN | c.429G>T (p.Glu143Asp) c.*301G>T (n.*301G>T) n.476G>T c.531G>T (p.Glu177Asp) c.540G>T (p.Glu180Asp) c.477G>T (p.Glu159Asp) | dbSNP gnomAD v4 |
| 2 | g.113132869T>A | CA348296397 | IL1RN | c.430T>A (p.Ter144Lys) c.*302T>A (n.*302T>A) n.477T>A c.532T>A (p.Ter178Lys) c.541T>A (p.Ter181Lys) c.478T>A (p.Ter160Lys) | |
| 2 | g.113132869T>C | CA348296398 | IL1RN | c.430T>C (p.Ter144Gln) c.*302T>C (n.*302T>C) n.477T>C c.532T>C (p.Ter178Gln) c.541T>C (p.Ter181Gln) c.478T>C (p.Ter160Gln) | gnomAD v4 |
| 2 | g.113132869T>G | CA348296399 | IL1RN | c.430T>G (p.Ter144Glu) c.*302T>G (n.*302T>G) n.477T>G c.532T>G (p.Ter178Glu) c.541T>G (p.Ter181Glu) c.478T>G (p.Ter160Glu) | |
| 2 | g.113132870A= | CA1280073379 | IL1RN | c.431A= (p.Ter144=) c.*303A= (n.*303A=) n.478A= c.533A= (p.Ter178=) c.542A= (p.Ter181=) c.479A= (p.Ter160=) | |
| 2 | g.113132870A>C | CA348296400 | IL1RN | c.431A>C (p.Ter144Ser) c.*303A>C (n.*303A>C) n.478A>C c.533A>C (p.Ter178Ser) c.542A>C (p.Ter181Ser) c.479A>C (p.Ter160Ser) | |
| 2 | g.113132870A>G | CA348296401 | IL1RN | c.431A>G (p.Ter144Trp) c.*303A>G (n.*303A>G) n.478A>G c.533A>G (p.Ter178Trp) c.542A>G (p.Ter181Trp) c.479A>G (p.Ter160Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.113132870A>T | CA348296402 | IL1RN | c.431A>T (p.Ter144Leu) c.*303A>T (n.*303A>T) n.478A>T c.533A>T (p.Ter178Leu) c.542A>T (p.Ter181Leu) c.479A>T (p.Ter160Leu) | |
| 2 | g.113132871G>A | CA53698028 | IL1RN | c.432G>A (p.Ter144=) c.*304G>A (n.*304G>A) n.479G>A c.534G>A (p.Ter178=) c.543G>A (p.Ter181=) c.480G>A (p.Ter160=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132871G>C | CA348296403 | IL1RN | c.432G>C (p.Ter144Tyr) c.*304G>C (n.*304G>C) n.479G>C c.534G>C (p.Ter178Tyr) c.543G>C (p.Ter181Tyr) c.480G>C (p.Ter160Tyr) | |
| 2 | g.113132871G= | CA1280073380 | IL1RN | c.432G= (p.Ter144=) c.*304G= (n.*304G=) n.479G= c.534G= (p.Ter178=) c.543G= (p.Ter181=) c.480G= (p.Ter160=) | |
| 2 | g.113132871G>T | CA348296404 | IL1RN | c.432G>T (p.Ter144Tyr) c.*304G>T (n.*304G>T) n.479G>T c.534G>T (p.Ter178Tyr) c.543G>T (p.Ter181Tyr) c.480G>T (p.Ter160Tyr) | |
| 2 | g.113132874C>A | CA2751751122 | IL1RN | c.*3C>A (n.*3C>A) c.*307C>A (n.*307C>A) n.482C>A | |
| 2 | g.113132875T>A | CA2660765824 | IL1RN | c.*4T>A (n.*4T>A) c.*308T>A (n.*308T>A) n.483T>A | gnomAD v4 |
| 2 | g.113132876G= | CA1280073382 | IL1RN | c.*5G= (n.*5G=) c.*309G= (n.*309G=) n.484G= | |
| 2 | g.113132876G>T | CA1280073383 | IL1RN | c.*5G>T (n.*5G>T) c.*309G>T (n.*309G>T) n.484G>T | dbSNP |
| 2 | g.113132876_113132877delinsGC | CA1280073381 | IL1RN | c.*5_*6delinsGC (n.*5_*6delinsGC) c.*309_*310delinsGC (n.*309_*310delinsGC) n.484_485delinsGC | |
| 2 | g.113132877C= | CA1280073384 | IL1RN | c.*6C= (n.*6C=) c.*310C= (n.*310C=) n.485C= | |
| 2 | g.113132877C>T | CA53698033 | IL1RN | c.*6C>T (n.*6C>T) c.*310C>T (n.*310C>T) n.485C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132879del | CA755277966 | IL1RN | c.*8del (n.*8del) c.*312del (n.*312del) n.487del | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132878C>A | CA2577074966 | IL1RN | c.*7C>A (n.*7C>A) c.*311C>A (n.*311C>A) n.486C>A | |
| 2 | g.113132878C= | CA1280073385 | IL1RN | c.*7C= (n.*7C=) c.*311C= (n.*311C=) n.486C= | |
| 2 | g.113132878C>T | CA1838925 | IL1RN | c.*7C>T (n.*7C>T) c.*311C>T (n.*311C>T) n.486C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132879C= | CA1280073386 | IL1RN | c.*8C= (n.*8C=) c.*312C= (n.*312C=) n.487C= | |
| 2 | g.113132879C>G | CA53698042 | IL1RN | c.*8C>G (n.*8C>G) c.*312C>G (n.*312C>G) n.487C>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132879C>T | CA2660765825 | IL1RN | c.*8C>T (n.*8C>T) c.*312C>T (n.*312C>T) n.487C>T | gnomAD v4 |
| 2 | g.113132880A= | CA1280073387 | IL1RN | c.*9A= (n.*9A=) c.*313A= (n.*313A=) n.488A= | |
| 2 | g.113132880A>G | CA535596176 | IL1RN | c.*9A>G (n.*9A>G) c.*313A>G (n.*313A>G) n.488A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132881G>A | CA1838926 | IL1RN | c.*10G>A (n.*10G>A) c.*314G>A (n.*314G>A) n.489G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132881G= | CA1280073388 | IL1RN | c.*10G= (n.*10G=) c.*314G= (n.*314G=) n.489G= | |
| 2 | g.113132882G>A | CA1838928 | IL1RN | c.*11G>A (n.*11G>A) c.*315G>A (n.*315G>A) n.490G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132882G>C | CA2660765826 | IL1RN | c.*11G>C (n.*11G>C) c.*315G>C (n.*315G>C) n.490G>C | gnomAD v4 |
| 2 | g.113132882G= | CA1280073389 | IL1RN | c.*11G= (n.*11G=) c.*315G= (n.*315G=) n.490G= | |
| 2 | g.113132882G>T | CA1838927 | IL1RN | c.*11G>T (n.*11G>T) c.*315G>T (n.*315G>T) n.490G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132883C>A | CA1838929 | IL1RN | c.*12C>A (n.*12C>A) c.*316C>A (n.*316C>A) n.491C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132883C= | CA1280073390 | IL1RN | c.*12C= (n.*12C=) c.*316C= (n.*316C=) n.491C= | |
| 2 | g.113132883C>G | CA2660765827 | IL1RN | c.*12C>G (n.*12C>G) c.*316C>G (n.*316C>G) n.491C>G | gnomAD v4 |
| 2 | g.113132883C>T | CA2538376819 | IL1RN | c.*12C>T (n.*12C>T) c.*316C>T (n.*316C>T) n.491C>T | |
| 2 | g.113132884C>A | CA2577074967 | IL1RN | c.*13C>A (n.*13C>A) c.*317C>A (n.*317C>A) n.492C>A | |
| 2 | g.113132885T>A | CA1838930 | IL1RN | c.*14T>A (n.*14T>A) c.*318T>A (n.*318T>A) n.493T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132885T>C | CA1838931 | IL1RN | c.*14T>C (n.*14T>C) c.*318T>C (n.*318T>C) n.493T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132885T= | CA1280073391 | IL1RN | c.*14T= (n.*14T=) c.*318T= (n.*318T=) n.493T= | |
| 2 | g.113132886G>A | CA1838932 | IL1RN | c.*15G>A (n.*15G>A) c.*319G>A (n.*319G>A) n.494G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132886G= | CA1280073392 | IL1RN | c.*15G= (n.*15G=) c.*319G= (n.*319G=) n.494G= | |
| 2 | g.113132887C= | CA1280073393 | IL1RN | c.*16C= (n.*16C=) c.*320C= (n.*320C=) n.495C= | |
| 2 | g.113132887C>T | CA1035126977 | IL1RN | c.*16C>T (n.*16C>T) c.*320C>T (n.*320C>T) n.495C>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132889T>C | CA2577074968 | IL1RN | c.*18T>C (n.*18T>C) c.*322T>C (n.*322T>C) n.497T>C | |
| 2 | g.113132890G>A | CA2577074969 | IL1RN | c.*19G>A (n.*19G>A) c.*323G>A (n.*323G>A) n.498G>A | gnomAD v4 |
| 2 | g.113132890G>C | CA1838933 | IL1RN | c.*19G>C (n.*19G>C) c.*323G>C (n.*323G>C) n.498G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132890G= | CA1280073394 | IL1RN | c.*19G= (n.*19G=) c.*323G= (n.*323G=) n.498G= | |
| 2 | g.113132891T>C | CA2660765828 | IL1RN | c.*20T>C (n.*20T>C) c.*324T>C (n.*324T>C) n.499T>C | gnomAD v4 |
| 2 | g.113132893C>A | CA2660765829 | IL1RN | c.*22C>A (n.*22C>A) c.*326C>A (n.*326C>A) n.501C>A | gnomAD v4 |
| 2 | g.113132893C= | CA1280073395 | IL1RN | c.*22C= (n.*22C=) c.*326C= (n.*326C=) n.501C= | |
| 2 | g.113132893C>T | CA1838934 | IL1RN | c.*22C>T (n.*22C>T) c.*326C>T (n.*326C>T) n.501C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132894C= | CA1280073396 | IL1RN | c.*23C= (n.*23C=) c.*327C= (n.*327C=) n.502C= | |
| 2 | g.113132894C>T | CA1838935 | IL1RN | c.*23C>T (n.*23C>T) c.*327C>T (n.*327C>T) n.502C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132895C>T | CA2660765830 | IL1RN | c.*24C>T (n.*24C>T) c.*328C>T (n.*328C>T) n.503C>T | gnomAD v4 |
| 2 | g.113132896A= | CA1280073397 | IL1RN | c.*25A= (n.*25A=) c.*329A= (n.*329A=) n.504A= | |
| 2 | g.113132896A>G | CA1838936 | IL1RN | c.*25A>G (n.*25A>G) c.*329A>G (n.*329A>G) n.504A>G | dbSNP ExAC gnomAD v4 |