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 |
|---|---|---|---|---|---|
| 9 | g.122381694C>A | CA5224890 | PTGS1 | c.709C>A (p.Leu237Met) c.382C>A (p.Leu128Met) c.400C>A (p.Leu134Met) c.634C>A (p.Leu212Met) c.565C>A (p.Leu189Met) n.803C>A n.519+3121C>A c.*554C>A (n.*554C>A) c.391C>A (p.Leu131Met) c.802C>A (p.Leu268Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381694C= | CA1877496671 | PTGS1 | c.709C= (p.Leu237=) c.382C= (p.Leu128=) c.400C= (p.Leu134=) c.634C= (p.Leu212=) c.565C= (p.Leu189=) n.803C= n.519+3121C= c.*554C= (n.*554C=) c.391C= (p.Leu131=) c.802C= (p.Leu268=) | |
| 9 | g.122381694C>G | CA374781320 | PTGS1 | c.709C>G (p.Leu237Val) c.382C>G (p.Leu128Val) c.400C>G (p.Leu134Val) c.634C>G (p.Leu212Val) c.565C>G (p.Leu189Val) n.803C>G n.519+3121C>G c.*554C>G (n.*554C>G) c.391C>G (p.Leu131Val) c.802C>G (p.Leu268Val) | |
| 9 | g.122381694C>T | CA467191141 | PTGS1 | c.709C>T (p.Leu237=) c.382C>T (p.Leu128=) c.400C>T (p.Leu134=) c.634C>T (p.Leu212=) c.565C>T (p.Leu189=) n.803C>T n.519+3121C>T c.*554C>T (n.*554C>T) c.391C>T (p.Leu131=) c.802C>T (p.Leu268=) | gnomAD v4 |
| 9 | g.122381695T>A | CA374781321 | PTGS1 | c.710T>A (p.Leu237Gln) c.383T>A (p.Leu128Gln) c.401T>A (p.Leu134Gln) c.635T>A (p.Leu212Gln) c.566T>A (p.Leu189Gln) n.804T>A n.519+3122T>A c.*555T>A (n.*555T>A) c.392T>A (p.Leu131Gln) c.803T>A (p.Leu268Gln) | |
| 9 | g.122381695T>C | CA374781323 | PTGS1 | c.710T>C (p.Leu237Pro) c.383T>C (p.Leu128Pro) c.401T>C (p.Leu134Pro) c.635T>C (p.Leu212Pro) c.566T>C (p.Leu189Pro) n.804T>C n.519+3122T>C c.*555T>C (n.*555T>C) c.392T>C (p.Leu131Pro) c.803T>C (p.Leu268Pro) | |
| 9 | g.122381695T>G | CA374781322 | PTGS1 | c.710T>G (p.Leu237Arg) c.383T>G (p.Leu128Arg) c.401T>G (p.Leu134Arg) c.635T>G (p.Leu212Arg) c.566T>G (p.Leu189Arg) n.804T>G n.519+3122T>G c.*555T>G (n.*555T>G) c.392T>G (p.Leu131Arg) c.803T>G (p.Leu268Arg) | |
| 9 | g.122381696G>A | CA467191146 | PTGS1 | c.711G>A (p.Leu237=) c.384G>A (p.Leu128=) c.402G>A (p.Leu134=) c.636G>A (p.Leu212=) c.567G>A (p.Leu189=) n.805G>A n.519+3123G>A c.*556G>A (n.*556G>A) c.393G>A (p.Leu131=) c.804G>A (p.Leu268=) | |
| 9 | g.122381696G>C | CA467191147 | PTGS1 | c.711G>C (p.Leu237=) c.384G>C (p.Leu128=) c.402G>C (p.Leu134=) c.636G>C (p.Leu212=) c.567G>C (p.Leu189=) n.805G>C n.519+3123G>C c.*556G>C (n.*556G>C) c.393G>C (p.Leu131=) c.804G>C (p.Leu268=) | |
| 9 | g.122381696G>T | CA467191148 | PTGS1 | c.711G>T (p.Leu237=) c.384G>T (p.Leu128=) c.402G>T (p.Leu134=) c.636G>T (p.Leu212=) c.567G>T (p.Leu189=) n.805G>T n.519+3123G>T c.*556G>T (n.*556G>T) c.393G>T (p.Leu131=) c.804G>T (p.Leu268=) | |
| 9 | g.122381697G>A | CA374781325 | PTGS1 | c.712G>A (p.Glu238Lys) c.385G>A (p.Glu129Lys) c.403G>A (p.Glu135Lys) c.637G>A (p.Glu213Lys) c.568G>A (p.Glu190Lys) n.806G>A n.519+3124G>A c.*557G>A (n.*557G>A) c.394G>A (p.Glu132Lys) c.805G>A (p.Glu269Lys) | |
| 9 | g.122381697G>C | CA374781326 | PTGS1 | c.712G>C (p.Glu238Gln) c.385G>C (p.Glu129Gln) c.403G>C (p.Glu135Gln) c.637G>C (p.Glu213Gln) c.568G>C (p.Glu190Gln) n.806G>C n.519+3124G>C c.*557G>C (n.*557G>C) c.394G>C (p.Glu132Gln) c.805G>C (p.Glu269Gln) | |
| 9 | g.122381697G>T | CA374781327 | PTGS1 | c.712G>T (p.Glu238Ter) c.385G>T (p.Glu129Ter) c.403G>T (p.Glu135Ter) c.637G>T (p.Glu213Ter) c.568G>T (p.Glu190Ter) n.806G>T n.519+3124G>T c.*557G>T (n.*557G>T) c.394G>T (p.Glu132Ter) c.805G>T (p.Glu269Ter) | |
| 9 | g.122381698A>C | CA374781328 | PTGS1 | c.713A>C (p.Glu238Ala) c.386A>C (p.Glu129Ala) c.404A>C (p.Glu135Ala) c.638A>C (p.Glu213Ala) c.569A>C (p.Glu190Ala) n.807A>C n.519+3125A>C c.*558A>C (n.*558A>C) c.395A>C (p.Glu132Ala) c.806A>C (p.Glu269Ala) | |
| 9 | g.122381698A>G | CA374781329 | PTGS1 | c.713A>G (p.Glu238Gly) c.386A>G (p.Glu129Gly) c.404A>G (p.Glu135Gly) c.638A>G (p.Glu213Gly) c.569A>G (p.Glu190Gly) n.807A>G n.519+3125A>G c.*558A>G (n.*558A>G) c.395A>G (p.Glu132Gly) c.806A>G (p.Glu269Gly) | |
| 9 | g.122381698A>T | CA374781330 | PTGS1 | c.713A>T (p.Glu238Val) c.386A>T (p.Glu129Val) c.404A>T (p.Glu135Val) c.638A>T (p.Glu213Val) c.569A>T (p.Glu190Val) n.807A>T n.519+3125A>T c.*558A>T (n.*558A>T) c.395A>T (p.Glu132Val) c.806A>T (p.Glu269Val) | |
| 9 | g.122381699G>A | CA467191158 | PTGS1 | c.714G>A (p.Glu238=) c.387G>A (p.Glu129=) c.405G>A (p.Glu135=) c.639G>A (p.Glu213=) c.570G>A (p.Glu190=) n.808G>A n.519+3126G>A c.*559G>A (n.*559G>A) c.396G>A (p.Glu132=) c.807G>A (p.Glu269=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.122381699G>C | CA374781331 | PTGS1 | c.714G>C (p.Glu238Asp) c.387G>C (p.Glu129Asp) c.405G>C (p.Glu135Asp) c.639G>C (p.Glu213Asp) c.570G>C (p.Glu190Asp) n.808G>C n.519+3126G>C c.*559G>C (n.*559G>C) c.396G>C (p.Glu132Asp) c.807G>C (p.Glu269Asp) | |
| 9 | g.122381699G= | CA1877496672 | PTGS1 | c.714G= (p.Glu238=) c.387G= (p.Glu129=) c.405G= (p.Glu135=) c.639G= (p.Glu213=) c.570G= (p.Glu190=) n.808G= n.519+3126G= c.*559G= (n.*559G=) c.396G= (p.Glu132=) c.807G= (p.Glu269=) | |
| 9 | g.122381699G>T | CA374781332 | PTGS1 | c.714G>T (p.Glu238Asp) c.387G>T (p.Glu129Asp) c.405G>T (p.Glu135Asp) c.639G>T (p.Glu213Asp) c.570G>T (p.Glu190Asp) n.808G>T n.519+3126G>T c.*559G>T (n.*559G>T) c.396G>T (p.Glu132Asp) c.807G>T (p.Glu269Asp) | |
| 9 | g.122381700C>A | CA374781333 | PTGS1 | c.715C>A (p.Arg239Ser) c.388C>A (p.Arg130Ser) c.406C>A (p.Arg136Ser) c.640C>A (p.Arg214Ser) c.571C>A (p.Arg191Ser) n.809C>A n.519+3127C>A c.*560C>A (n.*560C>A) c.397C>A (p.Arg133Ser) c.808C>A (p.Arg270Ser) | |
| 9 | g.122381700C= | CA1877496673 | PTGS1 | c.715C= (p.Arg239=) c.388C= (p.Arg130=) c.406C= (p.Arg136=) c.640C= (p.Arg214=) c.571C= (p.Arg191=) n.809C= n.519+3127C= c.*560C= (n.*560C=) c.397C= (p.Arg133=) c.808C= (p.Arg270=) | |
| 9 | g.122381700C>G | CA374781334 | PTGS1 | c.715C>G (p.Arg239Gly) c.388C>G (p.Arg130Gly) c.406C>G (p.Arg136Gly) c.640C>G (p.Arg214Gly) c.571C>G (p.Arg191Gly) n.809C>G n.519+3127C>G c.*560C>G (n.*560C>G) c.397C>G (p.Arg133Gly) c.808C>G (p.Arg270Gly) | |
| 9 | g.122381700C>T | CA374781335 | PTGS1 | c.715C>T (p.Arg239Cys) c.388C>T (p.Arg130Cys) c.406C>T (p.Arg136Cys) c.640C>T (p.Arg214Cys) c.571C>T (p.Arg191Cys) n.809C>T n.519+3127C>T c.*560C>T (n.*560C>T) c.397C>T (p.Arg133Cys) c.808C>T (p.Arg270Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.122381701G>A | CA5224891 | PTGS1 | c.716G>A (p.Arg239His) c.389G>A (p.Arg130His) c.407G>A (p.Arg136His) c.641G>A (p.Arg214His) c.572G>A (p.Arg191His) n.810G>A n.519+3128G>A c.*561G>A (n.*561G>A) c.398G>A (p.Arg133His) c.809G>A (p.Arg270His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381701G>C | CA374781337 | PTGS1 | c.716G>C (p.Arg239Pro) c.389G>C (p.Arg130Pro) c.407G>C (p.Arg136Pro) c.641G>C (p.Arg214Pro) c.572G>C (p.Arg191Pro) n.810G>C n.519+3128G>C c.*561G>C (n.*561G>C) c.398G>C (p.Arg133Pro) c.809G>C (p.Arg270Pro) | |
| 9 | g.122381701G= | CA1877496674 | PTGS1 | c.716G= (p.Arg239=) c.389G= (p.Arg130=) c.407G= (p.Arg136=) c.641G= (p.Arg214=) c.572G= (p.Arg191=) n.810G= n.519+3128G= c.*561G= (n.*561G=) c.398G= (p.Arg133=) c.809G= (p.Arg270=) | |
| 9 | g.122381701G>T | CA374781336 | PTGS1 | c.716G>T (p.Arg239Leu) c.389G>T (p.Arg130Leu) c.407G>T (p.Arg136Leu) c.641G>T (p.Arg214Leu) c.572G>T (p.Arg191Leu) n.810G>T n.519+3128G>T c.*561G>T (n.*561G>T) c.398G>T (p.Arg133Leu) c.809G>T (p.Arg270Leu) | |
| 9 | g.122381702T>A | CA467191168 | PTGS1 | c.717T>A (p.Arg239=) c.390T>A (p.Arg130=) c.408T>A (p.Arg136=) c.642T>A (p.Arg214=) c.573T>A (p.Arg191=) n.811T>A n.519+3129T>A c.*562T>A (n.*562T>A) c.399T>A (p.Arg133=) c.810T>A (p.Arg270=) | |
| 9 | g.122381702T>C | CA467191171 | PTGS1 | c.717T>C (p.Arg239=) c.390T>C (p.Arg130=) c.408T>C (p.Arg136=) c.642T>C (p.Arg214=) c.573T>C (p.Arg191=) n.811T>C n.519+3129T>C c.*562T>C (n.*562T>C) c.399T>C (p.Arg133=) c.810T>C (p.Arg270=) | |
| 9 | g.122381702T>G | CA467191170 | PTGS1 | c.717T>G (p.Arg239=) c.390T>G (p.Arg130=) c.408T>G (p.Arg136=) c.642T>G (p.Arg214=) c.573T>G (p.Arg191=) n.811T>G n.519+3129T>G c.*562T>G (n.*562T>G) c.399T>G (p.Arg133=) c.810T>G (p.Arg270=) | |
| 9 | g.122381703C>A | CA374781338 | PTGS1 | c.718C>A (p.Gln240Lys) c.391C>A (p.Gln131Lys) c.409C>A (p.Gln137Lys) c.643C>A (p.Gln215Lys) c.574C>A (p.Gln192Lys) n.812C>A n.519+3130C>A c.*563C>A (n.*563C>A) c.400C>A (p.Gln134Lys) c.811C>A (p.Gln271Lys) | |
| 9 | g.122381703C>G | CA374781340 | PTGS1 | c.718C>G (p.Gln240Glu) c.391C>G (p.Gln131Glu) c.409C>G (p.Gln137Glu) c.643C>G (p.Gln215Glu) c.574C>G (p.Gln192Glu) n.812C>G n.519+3130C>G c.*563C>G (n.*563C>G) c.400C>G (p.Gln134Glu) c.811C>G (p.Gln271Glu) | |
| 9 | g.122381703C>T | CA374781339 | PTGS1 | c.718C>T (p.Gln240Ter) c.391C>T (p.Gln131Ter) c.409C>T (p.Gln137Ter) c.643C>T (p.Gln215Ter) c.574C>T (p.Gln192Ter) n.812C>T n.519+3130C>T c.*563C>T (n.*563C>T) c.400C>T (p.Gln134Ter) c.811C>T (p.Gln271Ter) | |
| 9 | g.122381704A= | CA1877496675 | PTGS1 | c.719A= (p.Gln240=) c.392A= (p.Gln131=) c.410A= (p.Gln137=) c.644A= (p.Gln215=) c.575A= (p.Gln192=) n.813A= n.519+3131A= c.*564A= (n.*564A=) c.401A= (p.Gln134=) c.812A= (p.Gln271=) | |
| 9 | g.122381704A>C | CA5224892 | PTGS1 | c.719A>C (p.Gln240Pro) c.392A>C (p.Gln131Pro) c.410A>C (p.Gln137Pro) c.644A>C (p.Gln215Pro) c.575A>C (p.Gln192Pro) n.813A>C n.519+3131A>C c.*564A>C (n.*564A>C) c.401A>C (p.Gln134Pro) c.812A>C (p.Gln271Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381704A>G | CA374781341 | PTGS1 | c.719A>G (p.Gln240Arg) c.392A>G (p.Gln131Arg) c.410A>G (p.Gln137Arg) c.644A>G (p.Gln215Arg) c.575A>G (p.Gln192Arg) n.813A>G n.519+3131A>G c.*564A>G (n.*564A>G) c.401A>G (p.Gln134Arg) c.812A>G (p.Gln271Arg) | |
| 9 | g.122381704A>T | CA374781342 | PTGS1 | c.719A>T (p.Gln240Leu) c.392A>T (p.Gln131Leu) c.410A>T (p.Gln137Leu) c.644A>T (p.Gln215Leu) c.575A>T (p.Gln192Leu) n.813A>T n.519+3131A>T c.*564A>T (n.*564A>T) c.401A>T (p.Gln134Leu) c.812A>T (p.Gln271Leu) | |
| 9 | g.122381705G>A | CA5224893 | PTGS1 | c.720G>A (p.Gln240=) c.393G>A (p.Gln131=) c.411G>A (p.Gln137=) c.645G>A (p.Gln215=) c.576G>A (p.Gln192=) n.814G>A n.519+3132G>A c.*565G>A (n.*565G>A) c.402G>A (p.Gln134=) c.813G>A (p.Gln271=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381705G>C | CA374781343 | PTGS1 | c.720G>C (p.Gln240His) c.393G>C (p.Gln131His) c.411G>C (p.Gln137His) c.645G>C (p.Gln215His) c.576G>C (p.Gln192His) n.814G>C n.519+3132G>C c.*565G>C (n.*565G>C) c.402G>C (p.Gln134His) c.813G>C (p.Gln271His) | |
| 9 | g.122381705G= | CA1877496676 | PTGS1 | c.720G= (p.Gln240=) c.393G= (p.Gln131=) c.411G= (p.Gln137=) c.645G= (p.Gln215=) c.576G= (p.Gln192=) n.814G= n.519+3132G= c.*565G= (n.*565G=) c.402G= (p.Gln134=) c.813G= (p.Gln271=) | |
| 9 | g.122381705G>T | CA374781344 | PTGS1 | c.720G>T (p.Gln240His) c.393G>T (p.Gln131His) c.411G>T (p.Gln137His) c.645G>T (p.Gln215His) c.576G>T (p.Gln192His) n.814G>T n.519+3132G>T c.*565G>T (n.*565G>T) c.402G>T (p.Gln134His) c.813G>T (p.Gln271His) | |
| 9 | g.122381706T>A | CA374781345 | PTGS1 | c.721T>A (p.Tyr241Asn) c.394T>A (p.Tyr132Asn) c.412T>A (p.Tyr138Asn) c.646T>A (p.Tyr216Asn) c.577T>A (p.Tyr193Asn) n.815T>A n.519+3133T>A c.*566T>A (n.*566T>A) c.403T>A (p.Tyr135Asn) c.814T>A (p.Tyr272Asn) | |
| 9 | g.122381706T>C | CA374781346 | PTGS1 | c.721T>C (p.Tyr241His) c.394T>C (p.Tyr132His) c.412T>C (p.Tyr138His) c.646T>C (p.Tyr216His) c.577T>C (p.Tyr193His) n.815T>C n.519+3133T>C c.*566T>C (n.*566T>C) c.403T>C (p.Tyr135His) c.814T>C (p.Tyr272His) | |
| 9 | g.122381706T>G | CA374781347 | PTGS1 | c.721T>G (p.Tyr241Asp) c.394T>G (p.Tyr132Asp) c.412T>G (p.Tyr138Asp) c.646T>G (p.Tyr216Asp) c.577T>G (p.Tyr193Asp) n.815T>G n.519+3133T>G c.*566T>G (n.*566T>G) c.403T>G (p.Tyr135Asp) c.814T>G (p.Tyr272Asp) | gnomAD v4 |
| 9 | g.122381707A>C | CA374781348 | PTGS1 | c.722A>C (p.Tyr241Ser) c.395A>C (p.Tyr132Ser) c.413A>C (p.Tyr138Ser) c.647A>C (p.Tyr216Ser) c.578A>C (p.Tyr193Ser) n.816A>C n.519+3134A>C c.*567A>C (n.*567A>C) c.404A>C (p.Tyr135Ser) c.815A>C (p.Tyr272Ser) | |
| 9 | g.122381707A>G | CA374781349 | PTGS1 | c.722A>G (p.Tyr241Cys) c.395A>G (p.Tyr132Cys) c.413A>G (p.Tyr138Cys) c.647A>G (p.Tyr216Cys) c.578A>G (p.Tyr193Cys) n.816A>G n.519+3134A>G c.*567A>G (n.*567A>G) c.404A>G (p.Tyr135Cys) c.815A>G (p.Tyr272Cys) | |
| 9 | g.122381707A>T | CA374781350 | PTGS1 | c.722A>T (p.Tyr241Phe) c.395A>T (p.Tyr132Phe) c.413A>T (p.Tyr138Phe) c.647A>T (p.Tyr216Phe) c.578A>T (p.Tyr193Phe) n.816A>T n.519+3134A>T c.*567A>T (n.*567A>T) c.404A>T (p.Tyr135Phe) c.815A>T (p.Tyr272Phe) | |
| 9 | g.122381708T>A | CA374781352 | PTGS1 | c.723T>A (p.Tyr241Ter) c.396T>A (p.Tyr132Ter) c.414T>A (p.Tyr138Ter) c.648T>A (p.Tyr216Ter) c.579T>A (p.Tyr193Ter) n.817T>A n.519+3135T>A c.*568T>A (n.*568T>A) c.405T>A (p.Tyr135Ter) c.816T>A (p.Tyr272Ter) | |
| 9 | g.122381708T>C | CA467191186 | PTGS1 | c.723T>C (p.Tyr241=) c.396T>C (p.Tyr132=) c.414T>C (p.Tyr138=) c.648T>C (p.Tyr216=) c.579T>C (p.Tyr193=) n.817T>C n.519+3135T>C c.*568T>C (n.*568T>C) c.405T>C (p.Tyr135=) c.816T>C (p.Tyr272=) | |
| 9 | g.122381708T>G | CA374781351 | PTGS1 | c.723T>G (p.Tyr241Ter) c.396T>G (p.Tyr132Ter) c.414T>G (p.Tyr138Ter) c.648T>G (p.Tyr216Ter) c.579T>G (p.Tyr193Ter) n.817T>G n.519+3135T>G c.*568T>G (n.*568T>G) c.405T>G (p.Tyr135Ter) c.816T>G (p.Tyr272Ter) | |
| 9 | g.122381709C>A | CA374781353 | PTGS1 | c.724C>A (p.Gln242Lys) c.397C>A (p.Gln133Lys) c.415C>A (p.Gln139Lys) c.649C>A (p.Gln217Lys) c.580C>A (p.Gln194Lys) n.818C>A n.519+3136C>A c.*569C>A (n.*569C>A) c.406C>A (p.Gln136Lys) c.817C>A (p.Gln273Lys) | |
| 9 | g.122381709C>G | CA374781354 | PTGS1 | c.724C>G (p.Gln242Glu) c.397C>G (p.Gln133Glu) c.415C>G (p.Gln139Glu) c.649C>G (p.Gln217Glu) c.580C>G (p.Gln194Glu) n.818C>G n.519+3136C>G c.*569C>G (n.*569C>G) c.406C>G (p.Gln136Glu) c.817C>G (p.Gln273Glu) | |
| 9 | g.122381709C>T | CA374781355 | PTGS1 | c.724C>T (p.Gln242Ter) c.397C>T (p.Gln133Ter) c.415C>T (p.Gln139Ter) c.649C>T (p.Gln217Ter) c.580C>T (p.Gln194Ter) n.818C>T n.519+3136C>T c.*569C>T (n.*569C>T) c.406C>T (p.Gln136Ter) c.817C>T (p.Gln273Ter) | |
| 9 | g.122381710A>C | CA374781356 | PTGS1 | c.725A>C (p.Gln242Pro) c.398A>C (p.Gln133Pro) c.416A>C (p.Gln139Pro) c.650A>C (p.Gln217Pro) c.581A>C (p.Gln194Pro) n.819A>C n.519+3137A>C c.*570A>C (n.*570A>C) c.407A>C (p.Gln136Pro) c.818A>C (p.Gln273Pro) | |
| 9 | g.122381710A>G | CA374781357 | PTGS1 | c.725A>G (p.Gln242Arg) c.398A>G (p.Gln133Arg) c.416A>G (p.Gln139Arg) c.650A>G (p.Gln217Arg) c.581A>G (p.Gln194Arg) n.819A>G n.519+3137A>G c.*570A>G (n.*570A>G) c.407A>G (p.Gln136Arg) c.818A>G (p.Gln273Arg) | |
| 9 | g.122381710A>T | CA374781358 | PTGS1 | c.725A>T (p.Gln242Leu) c.398A>T (p.Gln133Leu) c.416A>T (p.Gln139Leu) c.650A>T (p.Gln217Leu) c.581A>T (p.Gln194Leu) n.819A>T n.519+3137A>T c.*570A>T (n.*570A>T) c.407A>T (p.Gln136Leu) c.818A>T (p.Gln273Leu) | |
| 9 | g.122381711A= | CA1877496677 | PTGS1 | c.726A= (p.Gln242=) c.399A= (p.Gln133=) c.417A= (p.Gln139=) c.651A= (p.Gln217=) c.582A= (p.Gln194=) n.820A= n.519+3138A= c.*571A= (n.*571A=) c.408A= (p.Gln136=) c.819A= (p.Gln273=) | |
| 9 | g.122381711A>C | CA374781359 | PTGS1 | c.726A>C (p.Gln242His) c.399A>C (p.Gln133His) c.417A>C (p.Gln139His) c.651A>C (p.Gln217His) c.582A>C (p.Gln194His) n.820A>C n.519+3138A>C c.*571A>C (n.*571A>C) c.408A>C (p.Gln136His) c.819A>C (p.Gln273His) | gnomAD v4 |
| 9 | g.122381711A>G | CA5224894 | PTGS1 | c.726A>G (p.Gln242=) c.399A>G (p.Gln133=) c.417A>G (p.Gln139=) c.651A>G (p.Gln217=) c.582A>G (p.Gln194=) n.820A>G n.519+3138A>G c.*571A>G (n.*571A>G) c.408A>G (p.Gln136=) c.819A>G (p.Gln273=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.122381711A>T | CA374781360 | PTGS1 | c.726A>T (p.Gln242His) c.399A>T (p.Gln133His) c.417A>T (p.Gln139His) c.651A>T (p.Gln217His) c.582A>T (p.Gln194His) n.820A>T n.519+3138A>T c.*571A>T (n.*571A>T) c.408A>T (p.Gln136His) c.819A>T (p.Gln273His) | |
| 9 | g.122381712C>A | CA374781361 | PTGS1 | c.727C>A (p.Leu243Met) c.400C>A (p.Leu134Met) c.418C>A (p.Leu140Met) c.652C>A (p.Leu218Met) c.583C>A (p.Leu195Met) n.821C>A n.519+3139C>A c.*572C>A (n.*572C>A) c.409C>A (p.Leu137Met) c.820C>A (p.Leu274Met) | |
| 9 | g.122381712C= | CA1877496678 | PTGS1 | c.727C= (p.Leu243=) c.400C= (p.Leu134=) c.418C= (p.Leu140=) c.652C= (p.Leu218=) c.583C= (p.Leu195=) n.821C= n.519+3139C= c.*572C= (n.*572C=) c.409C= (p.Leu137=) c.820C= (p.Leu274=) | |
| 9 | g.122381712C>G | CA374781362 | PTGS1 | c.727C>G (p.Leu243Val) c.400C>G (p.Leu134Val) c.418C>G (p.Leu140Val) c.652C>G (p.Leu218Val) c.583C>G (p.Leu195Val) n.821C>G n.519+3139C>G c.*572C>G (n.*572C>G) c.409C>G (p.Leu137Val) c.820C>G (p.Leu274Val) | |
| 9 | g.122381712C>T | CA5224895 | PTGS1 | c.727C>T (p.Leu243=) c.400C>T (p.Leu134=) c.418C>T (p.Leu140=) c.652C>T (p.Leu218=) c.583C>T (p.Leu195=) n.821C>T n.519+3139C>T c.*572C>T (n.*572C>T) c.409C>T (p.Leu137=) c.820C>T (p.Leu274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381713T>A | CA374781364 | PTGS1 | c.728T>A (p.Leu243Gln) c.401T>A (p.Leu134Gln) c.419T>A (p.Leu140Gln) c.653T>A (p.Leu218Gln) c.584T>A (p.Leu195Gln) n.822T>A n.519+3140T>A c.*573T>A (n.*573T>A) c.410T>A (p.Leu137Gln) c.821T>A (p.Leu274Gln) | |
| 9 | g.122381713T>C | CA199479062 | PTGS1 | c.728T>C (p.Leu243Pro) c.401T>C (p.Leu134Pro) c.419T>C (p.Leu140Pro) c.653T>C (p.Leu218Pro) c.584T>C (p.Leu195Pro) n.822T>C n.519+3140T>C c.*573T>C (n.*573T>C) c.410T>C (p.Leu137Pro) c.821T>C (p.Leu274Pro) | dbSNP |
| 9 | g.122381713T>G | CA374781363 | PTGS1 | c.728T>G (p.Leu243Arg) c.401T>G (p.Leu134Arg) c.419T>G (p.Leu140Arg) c.653T>G (p.Leu218Arg) c.584T>G (p.Leu195Arg) n.822T>G n.519+3140T>G c.*573T>G (n.*573T>G) c.410T>G (p.Leu137Arg) c.821T>G (p.Leu274Arg) | |
| 9 | g.122381713T= | CA1877496679 | PTGS1 | c.728T= (p.Leu243=) c.401T= (p.Leu134=) c.419T= (p.Leu140=) c.653T= (p.Leu218=) c.584T= (p.Leu195=) n.822T= n.519+3140T= c.*573T= (n.*573T=) c.410T= (p.Leu137=) c.821T= (p.Leu274=) | |
| 9 | g.122381714G>A | CA467191194 | PTGS1 | c.729G>A (p.Leu243=) c.402G>A (p.Leu134=) c.420G>A (p.Leu140=) c.654G>A (p.Leu218=) c.585G>A (p.Leu195=) n.823G>A n.519+3141G>A c.*574G>A (n.*574G>A) c.411G>A (p.Leu137=) c.822G>A (p.Leu274=) | dbSNP gnomAD v2 |
| 9 | g.122381714G>C | CA467191196 | PTGS1 | c.729G>C (p.Leu243=) c.402G>C (p.Leu134=) c.420G>C (p.Leu140=) c.654G>C (p.Leu218=) c.585G>C (p.Leu195=) n.823G>C n.519+3141G>C c.*574G>C (n.*574G>C) c.411G>C (p.Leu137=) c.822G>C (p.Leu274=) | |
| 9 | g.122381714G= | CA1877496680 | PTGS1 | c.729G= (p.Leu243=) c.402G= (p.Leu134=) c.420G= (p.Leu140=) c.654G= (p.Leu218=) c.585G= (p.Leu195=) n.823G= n.519+3141G= c.*574G= (n.*574G=) c.411G= (p.Leu137=) c.822G= (p.Leu274=) | |
| 9 | g.122381714G>T | CA467191195 | PTGS1 | c.729G>T (p.Leu243=) c.402G>T (p.Leu134=) c.420G>T (p.Leu140=) c.654G>T (p.Leu218=) c.585G>T (p.Leu195=) n.823G>T n.519+3141G>T c.*574G>T (n.*574G>T) c.411G>T (p.Leu137=) c.822G>T (p.Leu274=) | |
| 9 | g.122381715C>A | CA467191197 | PTGS1 | c.730C>A (p.Arg244=) c.403C>A (p.Arg135=) c.421C>A (p.Arg141=) c.655C>A (p.Arg219=) c.586C>A (p.Arg196=) n.824C>A n.519+3142C>A c.*575C>A (n.*575C>A) c.412C>A (p.Arg138=) c.823C>A (p.Arg275=) | |
| 9 | g.122381715C= | CA1877496681 | PTGS1 | c.730C= (p.Arg244=) c.403C= (p.Arg135=) c.421C= (p.Arg141=) c.655C= (p.Arg219=) c.586C= (p.Arg196=) n.824C= n.519+3142C= c.*575C= (n.*575C=) c.412C= (p.Arg138=) c.823C= (p.Arg275=) | |
| 9 | g.122381715C>G | CA374781365 | PTGS1 | c.730C>G (p.Arg244Gly) c.403C>G (p.Arg135Gly) c.421C>G (p.Arg141Gly) c.655C>G (p.Arg219Gly) c.586C>G (p.Arg196Gly) n.824C>G n.519+3142C>G c.*575C>G (n.*575C>G) c.412C>G (p.Arg138Gly) c.823C>G (p.Arg275Gly) | |
| 9 | g.122381715C>T | CA5224896 | PTGS1 | c.730C>T (p.Arg244Trp) c.403C>T (p.Arg135Trp) c.421C>T (p.Arg141Trp) c.655C>T (p.Arg219Trp) c.586C>T (p.Arg196Trp) n.824C>T n.519+3142C>T c.*575C>T (n.*575C>T) c.412C>T (p.Arg138Trp) c.823C>T (p.Arg275Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381716G>A | CA5224897 | PTGS1 | c.731G>A (p.Arg244Gln) c.404G>A (p.Arg135Gln) c.422G>A (p.Arg141Gln) c.656G>A (p.Arg219Gln) c.587G>A (p.Arg196Gln) n.825G>A n.519+3143G>A c.*576G>A (n.*576G>A) c.413G>A (p.Arg138Gln) c.824G>A (p.Arg275Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381716G>C | CA374781366 | PTGS1 | c.731G>C (p.Arg244Pro) c.404G>C (p.Arg135Pro) c.422G>C (p.Arg141Pro) c.656G>C (p.Arg219Pro) c.587G>C (p.Arg196Pro) n.825G>C n.519+3143G>C c.*576G>C (n.*576G>C) c.413G>C (p.Arg138Pro) c.824G>C (p.Arg275Pro) | |
| 9 | g.122381716G= | CA1877496682 | PTGS1 | c.731G= (p.Arg244=) c.404G= (p.Arg135=) c.422G= (p.Arg141=) c.656G= (p.Arg219=) c.587G= (p.Arg196=) n.825G= n.519+3143G= c.*576G= (n.*576G=) c.413G= (p.Arg138=) c.824G= (p.Arg275=) | |
| 9 | g.122381716G>T | CA374781367 | PTGS1 | c.731G>T (p.Arg244Leu) c.404G>T (p.Arg135Leu) c.422G>T (p.Arg141Leu) c.656G>T (p.Arg219Leu) c.587G>T (p.Arg196Leu) n.825G>T n.519+3143G>T c.*576G>T (n.*576G>T) c.413G>T (p.Arg138Leu) c.824G>T (p.Arg275Leu) | |
| 9 | g.122381717G>A | CA467191202 | PTGS1 | c.732G>A (p.Arg244=) c.405G>A (p.Arg135=) c.423G>A (p.Arg141=) c.657G>A (p.Arg219=) c.588G>A (p.Arg196=) n.826G>A n.519+3144G>A c.*577G>A (n.*577G>A) c.414G>A (p.Arg138=) c.825G>A (p.Arg275=) | |
| 9 | g.122381717G>C | CA467191204 | PTGS1 | c.732G>C (p.Arg244=) c.405G>C (p.Arg135=) c.423G>C (p.Arg141=) c.657G>C (p.Arg219=) c.588G>C (p.Arg196=) n.826G>C n.519+3144G>C c.*577G>C (n.*577G>C) c.414G>C (p.Arg138=) c.825G>C (p.Arg275=) | |
| 9 | g.122381717G>T | CA467191206 | PTGS1 | c.732G>T (p.Arg244=) c.405G>T (p.Arg135=) c.423G>T (p.Arg141=) c.657G>T (p.Arg219=) c.588G>T (p.Arg196=) n.826G>T n.519+3144G>T c.*577G>T (n.*577G>T) c.414G>T (p.Arg138=) c.825G>T (p.Arg275=) | gnomAD v4 |
| 9 | g.122381718C>A | CA374781369 | PTGS1 | c.733C>A (p.Leu245Ile) c.406C>A (p.Leu136Ile) c.424C>A (p.Leu142Ile) c.658C>A (p.Leu220Ile) c.589C>A (p.Leu197Ile) n.827C>A n.519+3145C>A c.*578C>A (n.*578C>A) c.415C>A (p.Leu139Ile) c.826C>A (p.Leu276Ile) | |
| 9 | g.122381718C= | CA1877496683 | PTGS1 | c.733C= (p.Leu245=) c.406C= (p.Leu136=) c.424C= (p.Leu142=) c.658C= (p.Leu220=) c.589C= (p.Leu197=) n.827C= n.519+3145C= c.*578C= (n.*578C=) c.415C= (p.Leu139=) c.826C= (p.Leu276=) | |
| 9 | g.122381718C>G | CA374781368 | PTGS1 | c.733C>G (p.Leu245Val) c.406C>G (p.Leu136Val) c.424C>G (p.Leu142Val) c.658C>G (p.Leu220Val) c.589C>G (p.Leu197Val) n.827C>G n.519+3145C>G c.*578C>G (n.*578C>G) c.415C>G (p.Leu139Val) c.826C>G (p.Leu276Val) | |
| 9 | g.122381718C>T | CA5224898 | PTGS1 | c.733C>T (p.Leu245Phe) c.406C>T (p.Leu136Phe) c.424C>T (p.Leu142Phe) c.658C>T (p.Leu220Phe) c.589C>T (p.Leu197Phe) n.827C>T n.519+3145C>T c.*578C>T (n.*578C>T) c.415C>T (p.Leu139Phe) c.826C>T (p.Leu276Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381719T>A | CA374781370 | PTGS1 | c.734T>A (p.Leu245His) c.407T>A (p.Leu136His) c.425T>A (p.Leu142His) c.659T>A (p.Leu220His) c.590T>A (p.Leu197His) n.828T>A n.519+3146T>A c.*579T>A (n.*579T>A) c.416T>A (p.Leu139His) c.827T>A (p.Leu276His) | |
| 9 | g.122381719T>C | CA374781371 | PTGS1 | c.734T>C (p.Leu245Pro) c.407T>C (p.Leu136Pro) c.425T>C (p.Leu142Pro) c.659T>C (p.Leu220Pro) c.590T>C (p.Leu197Pro) n.828T>C n.519+3146T>C c.*579T>C (n.*579T>C) c.416T>C (p.Leu139Pro) c.827T>C (p.Leu276Pro) | |
| 9 | g.122381719T>G | CA374781372 | PTGS1 | c.734T>G (p.Leu245Arg) c.407T>G (p.Leu136Arg) c.425T>G (p.Leu142Arg) c.659T>G (p.Leu220Arg) c.590T>G (p.Leu197Arg) n.828T>G n.519+3146T>G c.*579T>G (n.*579T>G) c.416T>G (p.Leu139Arg) c.827T>G (p.Leu276Arg) | |
| 9 | g.122381720C>A | CA467191214 | PTGS1 | c.735C>A (p.Leu245=) c.408C>A (p.Leu136=) c.426C>A (p.Leu142=) c.660C>A (p.Leu220=) c.591C>A (p.Leu197=) n.829C>A n.519+3147C>A c.*580C>A (n.*580C>A) c.417C>A (p.Leu139=) c.828C>A (p.Leu276=) | |
| 9 | g.122381720C= | CA1877496684 | PTGS1 | c.735C= (p.Leu245=) c.408C= (p.Leu136=) c.426C= (p.Leu142=) c.660C= (p.Leu220=) c.591C= (p.Leu197=) n.829C= n.519+3147C= c.*580C= (n.*580C=) c.417C= (p.Leu139=) c.828C= (p.Leu276=) | |
| 9 | g.122381720C>G | CA467191215 | PTGS1 | c.735C>G (p.Leu245=) c.408C>G (p.Leu136=) c.426C>G (p.Leu142=) c.660C>G (p.Leu220=) c.591C>G (p.Leu197=) n.829C>G n.519+3147C>G c.*580C>G (n.*580C>G) c.417C>G (p.Leu139=) c.828C>G (p.Leu276=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381720C>T | CA467191217 | PTGS1 | c.735C>T (p.Leu245=) c.408C>T (p.Leu136=) c.426C>T (p.Leu142=) c.660C>T (p.Leu220=) c.591C>T (p.Leu197=) n.829C>T n.519+3147C>T c.*580C>T (n.*580C>T) c.417C>T (p.Leu139=) c.828C>T (p.Leu276=) | |
| 9 | g.122381721T>A | CA374781373 | PTGS1 | c.736T>A (p.Phe246Ile) c.409T>A (p.Phe137Ile) c.427T>A (p.Phe143Ile) c.661T>A (p.Phe221Ile) c.592T>A (p.Phe198Ile) n.830T>A n.519+3148T>A c.*581T>A (n.*581T>A) c.418T>A (p.Phe140Ile) c.829T>A (p.Phe277Ile) | |
| 9 | g.122381721T>C | CA374781374 | PTGS1 | c.736T>C (p.Phe246Leu) c.409T>C (p.Phe137Leu) c.427T>C (p.Phe143Leu) c.661T>C (p.Phe221Leu) c.592T>C (p.Phe198Leu) n.830T>C n.519+3148T>C c.*581T>C (n.*581T>C) c.418T>C (p.Phe140Leu) c.829T>C (p.Phe277Leu) | |
| 9 | g.122381721T>G | CA374781375 | PTGS1 | c.736T>G (p.Phe246Val) c.409T>G (p.Phe137Val) c.427T>G (p.Phe143Val) c.661T>G (p.Phe221Val) c.592T>G (p.Phe198Val) n.830T>G n.519+3148T>G c.*581T>G (n.*581T>G) c.418T>G (p.Phe140Val) c.829T>G (p.Phe277Val) | |
| 9 | g.122381722T>A | CA199479078 | PTGS1 | c.737T>A (p.Phe246Tyr) c.410T>A (p.Phe137Tyr) c.428T>A (p.Phe143Tyr) c.662T>A (p.Phe221Tyr) c.593T>A (p.Phe198Tyr) n.831T>A n.519+3149T>A c.*582T>A (n.*582T>A) c.419T>A (p.Phe140Tyr) c.830T>A (p.Phe277Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.122381722T>C | CA374781377 | PTGS1 | c.737T>C (p.Phe246Ser) c.410T>C (p.Phe137Ser) c.428T>C (p.Phe143Ser) c.662T>C (p.Phe221Ser) c.593T>C (p.Phe198Ser) n.831T>C n.519+3149T>C c.*582T>C (n.*582T>C) c.419T>C (p.Phe140Ser) c.830T>C (p.Phe277Ser) | |
| 9 | g.122381722T>G | CA374781376 | PTGS1 | c.737T>G (p.Phe246Cys) c.410T>G (p.Phe137Cys) c.428T>G (p.Phe143Cys) c.662T>G (p.Phe221Cys) c.593T>G (p.Phe198Cys) n.831T>G n.519+3149T>G c.*582T>G (n.*582T>G) c.419T>G (p.Phe140Cys) c.830T>G (p.Phe277Cys) | |
| 9 | g.122381722T= | CA1877496685 | PTGS1 | c.737T= (p.Phe246=) c.410T= (p.Phe137=) c.428T= (p.Phe143=) c.662T= (p.Phe221=) c.593T= (p.Phe198=) n.831T= n.519+3149T= c.*582T= (n.*582T=) c.419T= (p.Phe140=) c.830T= (p.Phe277=) | |
| 9 | g.122381723T>A | CA374781378 | PTGS1 | c.738T>A (p.Phe246Leu) c.411T>A (p.Phe137Leu) c.429T>A (p.Phe143Leu) c.663T>A (p.Phe221Leu) c.594T>A (p.Phe198Leu) n.832T>A n.519+3150T>A c.*583T>A (n.*583T>A) c.420T>A (p.Phe140Leu) c.831T>A (p.Phe277Leu) | |
| 9 | g.122381723T>C | CA467191218 | PTGS1 | c.738T>C (p.Phe246=) c.411T>C (p.Phe137=) c.429T>C (p.Phe143=) c.663T>C (p.Phe221=) c.594T>C (p.Phe198=) n.832T>C n.519+3150T>C c.*583T>C (n.*583T>C) c.420T>C (p.Phe140=) c.831T>C (p.Phe277=) | |
| 9 | g.122381723T>G | CA374781379 | PTGS1 | c.738T>G (p.Phe246Leu) c.411T>G (p.Phe137Leu) c.429T>G (p.Phe143Leu) c.663T>G (p.Phe221Leu) c.594T>G (p.Phe198Leu) n.832T>G n.519+3150T>G c.*583T>G (n.*583T>G) c.420T>G (p.Phe140Leu) c.831T>G (p.Phe277Leu) | |
| 9 | g.122381724A>C | CA374781380 | PTGS1 | c.739A>C (p.Lys247Gln) c.412A>C (p.Lys138Gln) c.430A>C (p.Lys144Gln) c.664A>C (p.Lys222Gln) c.595A>C (p.Lys199Gln) n.833A>C n.519+3151A>C c.*584A>C (n.*584A>C) c.421A>C (p.Lys141Gln) c.832A>C (p.Lys278Gln) | |
| 9 | g.122381724A>G | CA374781381 | PTGS1 | c.739A>G (p.Lys247Glu) c.412A>G (p.Lys138Glu) c.430A>G (p.Lys144Glu) c.664A>G (p.Lys222Glu) c.595A>G (p.Lys199Glu) n.833A>G n.519+3151A>G c.*584A>G (n.*584A>G) c.421A>G (p.Lys141Glu) c.832A>G (p.Lys278Glu) | |
| 9 | g.122381724A>T | CA374781382 | PTGS1 | c.739A>T (p.Lys247Ter) c.412A>T (p.Lys138Ter) c.430A>T (p.Lys144Ter) c.664A>T (p.Lys222Ter) c.595A>T (p.Lys199Ter) n.833A>T n.519+3151A>T c.*584A>T (n.*584A>T) c.421A>T (p.Lys141Ter) c.832A>T (p.Lys278Ter) | |
| 9 | g.122381725A= | CA1877496686 | PTGS1 | c.740A= (p.Lys247=) c.413A= (p.Lys138=) c.431A= (p.Lys144=) c.665A= (p.Lys222=) c.596A= (p.Lys199=) n.834A= n.519+3152A= c.*585A= (n.*585A=) c.422A= (p.Lys141=) c.833A= (p.Lys278=) | |
| 9 | g.122381725A>C | CA374781383 | PTGS1 | c.740A>C (p.Lys247Thr) c.413A>C (p.Lys138Thr) c.431A>C (p.Lys144Thr) c.665A>C (p.Lys222Thr) c.596A>C (p.Lys199Thr) n.834A>C n.519+3152A>C c.*585A>C (n.*585A>C) c.422A>C (p.Lys141Thr) c.833A>C (p.Lys278Thr) | |
| 9 | g.122381725A>G | CA5224899 | PTGS1 | c.740A>G (p.Lys247Arg) c.413A>G (p.Lys138Arg) c.431A>G (p.Lys144Arg) c.665A>G (p.Lys222Arg) c.596A>G (p.Lys199Arg) n.834A>G n.519+3152A>G c.*585A>G (n.*585A>G) c.422A>G (p.Lys141Arg) c.833A>G (p.Lys278Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381725A>T | CA374781384 | PTGS1 | c.740A>T (p.Lys247Met) c.413A>T (p.Lys138Met) c.431A>T (p.Lys144Met) c.665A>T (p.Lys222Met) c.596A>T (p.Lys199Met) n.834A>T n.519+3152A>T c.*585A>T (n.*585A>T) c.422A>T (p.Lys141Met) c.833A>T (p.Lys278Met) | |
| 9 | g.122381726G>A | CA467191220 | PTGS1 | c.741G>A (p.Lys247=) c.414G>A (p.Lys138=) c.432G>A (p.Lys144=) c.666G>A (p.Lys222=) c.597G>A (p.Lys199=) n.835G>A n.519+3153G>A c.*586G>A (n.*586G>A) c.423G>A (p.Lys141=) c.834G>A (p.Lys278=) | COSMIC |
| 9 | g.122381726G>C | CA374781385 | PTGS1 | c.741G>C (p.Lys247Asn) c.414G>C (p.Lys138Asn) c.432G>C (p.Lys144Asn) c.666G>C (p.Lys222Asn) c.597G>C (p.Lys199Asn) n.835G>C n.519+3153G>C c.*586G>C (n.*586G>C) c.423G>C (p.Lys141Asn) c.834G>C (p.Lys278Asn) | gnomAD v4 |
| 9 | g.122381726G>T | CA374781386 | PTGS1 | c.741G>T (p.Lys247Asn) c.414G>T (p.Lys138Asn) c.432G>T (p.Lys144Asn) c.666G>T (p.Lys222Asn) c.597G>T (p.Lys199Asn) n.835G>T n.519+3153G>T c.*586G>T (n.*586G>T) c.423G>T (p.Lys141Asn) c.834G>T (p.Lys278Asn) | COSMIC |
| 9 | g.122381727G>A | CA374781387 | PTGS1 | c.742G>A (p.Asp248Asn) c.415G>A (p.Asp139Asn) c.433G>A (p.Asp145Asn) c.667G>A (p.Asp223Asn) c.598G>A (p.Asp200Asn) n.836G>A n.519+3154G>A c.*587G>A (n.*587G>A) c.424G>A (p.Asp142Asn) c.835G>A (p.Asp279Asn) | COSMIC |
| 9 | g.122381727G>C | CA374781389 | PTGS1 | c.742G>C (p.Asp248His) c.415G>C (p.Asp139His) c.433G>C (p.Asp145His) c.667G>C (p.Asp223His) c.598G>C (p.Asp200His) n.836G>C n.519+3154G>C c.*587G>C (n.*587G>C) c.424G>C (p.Asp142His) c.835G>C (p.Asp279His) | gnomAD v4 |
| 9 | g.122381727G= | CA1877496687 | PTGS1 | c.742G= (p.Asp248=) c.415G= (p.Asp139=) c.433G= (p.Asp145=) c.667G= (p.Asp223=) c.598G= (p.Asp200=) n.836G= n.519+3154G= c.*587G= (n.*587G=) c.424G= (p.Asp142=) c.835G= (p.Asp279=) | |
| 9 | g.122381727G>T | CA374781388 | PTGS1 | c.742G>T (p.Asp248Tyr) c.415G>T (p.Asp139Tyr) c.433G>T (p.Asp145Tyr) c.667G>T (p.Asp223Tyr) c.598G>T (p.Asp200Tyr) n.836G>T n.519+3154G>T c.*587G>T (n.*587G>T) c.424G>T (p.Asp142Tyr) c.835G>T (p.Asp279Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381728A= | CA1877496688 | PTGS1 | c.743A= (p.Asp248=) c.416A= (p.Asp139=) c.434A= (p.Asp145=) c.668A= (p.Asp223=) c.599A= (p.Asp200=) n.837A= n.519+3155A= c.*588A= (n.*588A=) c.425A= (p.Asp142=) c.836A= (p.Asp279=) | |
| 9 | g.122381728A>C | CA374781390 | PTGS1 | c.743A>C (p.Asp248Ala) c.416A>C (p.Asp139Ala) c.434A>C (p.Asp145Ala) c.668A>C (p.Asp223Ala) c.599A>C (p.Asp200Ala) n.837A>C n.519+3155A>C c.*588A>C (n.*588A>C) c.425A>C (p.Asp142Ala) c.836A>C (p.Asp279Ala) | |
| 9 | g.122381728A>G | CA5224900 | PTGS1 | c.743A>G (p.Asp248Gly) c.416A>G (p.Asp139Gly) c.434A>G (p.Asp145Gly) c.668A>G (p.Asp223Gly) c.599A>G (p.Asp200Gly) n.837A>G n.519+3155A>G c.*588A>G (n.*588A>G) c.425A>G (p.Asp142Gly) c.836A>G (p.Asp279Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381728A>T | CA199479102 | PTGS1 | c.743A>T (p.Asp248Val) c.416A>T (p.Asp139Val) c.434A>T (p.Asp145Val) c.668A>T (p.Asp223Val) c.599A>T (p.Asp200Val) n.837A>T n.519+3155A>T c.*588A>T (n.*588A>T) c.425A>T (p.Asp142Val) c.836A>T (p.Asp279Val) | dbSNP |
| 9 | g.122381729T>A | CA374781391 | PTGS1 | c.744T>A (p.Asp248Glu) c.417T>A (p.Asp139Glu) c.435T>A (p.Asp145Glu) c.669T>A (p.Asp223Glu) c.600T>A (p.Asp200Glu) n.838T>A n.519+3156T>A c.*589T>A (n.*589T>A) c.426T>A (p.Asp142Glu) c.837T>A (p.Asp279Glu) | |
| 9 | g.122381729T>C | CA467191225 | PTGS1 | c.744T>C (p.Asp248=) c.417T>C (p.Asp139=) c.435T>C (p.Asp145=) c.669T>C (p.Asp223=) c.600T>C (p.Asp200=) n.838T>C n.519+3156T>C c.*589T>C (n.*589T>C) c.426T>C (p.Asp142=) c.837T>C (p.Asp279=) | |
| 9 | g.122381729T>G | CA374781392 | PTGS1 | c.744T>G (p.Asp248Glu) c.417T>G (p.Asp139Glu) c.435T>G (p.Asp145Glu) c.669T>G (p.Asp223Glu) c.600T>G (p.Asp200Glu) n.838T>G n.519+3156T>G c.*589T>G (n.*589T>G) c.426T>G (p.Asp142Glu) c.837T>G (p.Asp279Glu) | gnomAD v4 |
| 9 | g.122381730G>A | CA374781393 | PTGS1 | c.745G>A (p.Gly249Arg) c.418G>A (p.Gly140Arg) c.436G>A (p.Gly146Arg) c.670G>A (p.Gly224Arg) c.601G>A (p.Gly201Arg) n.839G>A n.519+3157G>A c.*590G>A (n.*590G>A) c.427G>A (p.Gly143Arg) c.838G>A (p.Gly280Arg) | dbSNP |
| 9 | g.122381730G>C | CA374781394 | PTGS1 | c.745G>C (p.Gly249Arg) c.418G>C (p.Gly140Arg) c.436G>C (p.Gly146Arg) c.670G>C (p.Gly224Arg) c.601G>C (p.Gly201Arg) n.839G>C n.519+3157G>C c.*590G>C (n.*590G>C) c.427G>C (p.Gly143Arg) c.838G>C (p.Gly280Arg) | |
| 9 | g.122381730G= | CA1877496689 | PTGS1 | c.745G= (p.Gly249=) c.418G= (p.Gly140=) c.436G= (p.Gly146=) c.670G= (p.Gly224=) c.601G= (p.Gly201=) n.839G= n.519+3157G= c.*590G= (n.*590G=) c.427G= (p.Gly143=) c.838G= (p.Gly280=) | |
| 9 | g.122381730G>T | CA374781395 | PTGS1 | c.745G>T (p.Gly249Trp) c.418G>T (p.Gly140Trp) c.436G>T (p.Gly146Trp) c.670G>T (p.Gly224Trp) c.601G>T (p.Gly201Trp) n.839G>T n.519+3157G>T c.*590G>T (n.*590G>T) c.427G>T (p.Gly143Trp) c.838G>T (p.Gly280Trp) | |
| 9 | g.122381731G>A | CA374781396 | PTGS1 | c.746G>A (p.Gly249Glu) c.419G>A (p.Gly140Glu) c.437G>A (p.Gly146Glu) c.671G>A (p.Gly224Glu) c.602G>A (p.Gly201Glu) n.840G>A n.519+3158G>A c.*591G>A (n.*591G>A) c.428G>A (p.Gly143Glu) c.839G>A (p.Gly280Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.122381731G>C | CA374781397 | PTGS1 | c.746G>C (p.Gly249Ala) c.419G>C (p.Gly140Ala) c.437G>C (p.Gly146Ala) c.671G>C (p.Gly224Ala) c.602G>C (p.Gly201Ala) n.840G>C n.519+3158G>C c.*591G>C (n.*591G>C) c.428G>C (p.Gly143Ala) c.839G>C (p.Gly280Ala) | |
| 9 | g.122381731G= | CA1877496690 | PTGS1 | c.746G= (p.Gly249=) c.419G= (p.Gly140=) c.437G= (p.Gly146=) c.671G= (p.Gly224=) c.602G= (p.Gly201=) n.840G= n.519+3158G= c.*591G= (n.*591G=) c.428G= (p.Gly143=) c.839G= (p.Gly280=) | |
| 9 | g.122381731G>T | CA374781398 | PTGS1 | c.746G>T (p.Gly249Val) c.419G>T (p.Gly140Val) c.437G>T (p.Gly146Val) c.671G>T (p.Gly224Val) c.602G>T (p.Gly201Val) n.840G>T n.519+3158G>T c.*591G>T (n.*591G>T) c.428G>T (p.Gly143Val) c.839G>T (p.Gly280Val) | |
| 9 | g.122381732G>A | CA467191235 | PTGS1 | c.747G>A (p.Gly249=) c.420G>A (p.Gly140=) c.438G>A (p.Gly146=) c.672G>A (p.Gly224=) c.603G>A (p.Gly201=) n.841G>A n.519+3159G>A c.*592G>A (n.*592G>A) c.429G>A (p.Gly143=) c.840G>A (p.Gly280=) | |
| 9 | g.122381732G>C | CA467191237 | PTGS1 | c.747G>C (p.Gly249=) c.420G>C (p.Gly140=) c.438G>C (p.Gly146=) c.672G>C (p.Gly224=) c.603G>C (p.Gly201=) n.841G>C n.519+3159G>C c.*592G>C (n.*592G>C) c.429G>C (p.Gly143=) c.840G>C (p.Gly280=) | |
| 9 | g.122381732G>T | CA467191239 | PTGS1 | c.747G>T (p.Gly249=) c.420G>T (p.Gly140=) c.438G>T (p.Gly146=) c.672G>T (p.Gly224=) c.603G>T (p.Gly201=) n.841G>T n.519+3159G>T c.*592G>T (n.*592G>T) c.429G>T (p.Gly143=) c.840G>T (p.Gly280=) | |
| 9 | g.122381733A>C | CA374781399 | PTGS1 | c.748A>C (p.Lys250Gln) c.421A>C (p.Lys141Gln) c.439A>C (p.Lys147Gln) c.673A>C (p.Lys225Gln) c.604A>C (p.Lys202Gln) n.842A>C n.519+3160A>C c.*593A>C (n.*593A>C) c.430A>C (p.Lys144Gln) c.841A>C (p.Lys281Gln) | |
| 9 | g.122381733A>G | CA374781400 | PTGS1 | c.748A>G (p.Lys250Glu) c.421A>G (p.Lys141Glu) c.439A>G (p.Lys147Glu) c.673A>G (p.Lys225Glu) c.604A>G (p.Lys202Glu) n.842A>G n.519+3160A>G c.*593A>G (n.*593A>G) c.430A>G (p.Lys144Glu) c.841A>G (p.Lys281Glu) | |
| 9 | g.122381733A>T | CA374781401 | PTGS1 | c.748A>T (p.Lys250Ter) c.421A>T (p.Lys141Ter) c.439A>T (p.Lys147Ter) c.673A>T (p.Lys225Ter) c.604A>T (p.Lys202Ter) n.842A>T n.519+3160A>T c.*593A>T (n.*593A>T) c.430A>T (p.Lys144Ter) c.841A>T (p.Lys281Ter) | |
| 9 | g.122381734A>C | CA374781402 | PTGS1 | c.749A>C (p.Lys250Thr) c.422A>C (p.Lys141Thr) c.440A>C (p.Lys147Thr) c.674A>C (p.Lys225Thr) c.605A>C (p.Lys202Thr) n.843A>C n.519+3161A>C c.*594A>C (n.*594A>C) c.431A>C (p.Lys144Thr) c.842A>C (p.Lys281Thr) | |
| 9 | g.122381734A>G | CA374781403 | PTGS1 | c.749A>G (p.Lys250Arg) c.422A>G (p.Lys141Arg) c.440A>G (p.Lys147Arg) c.674A>G (p.Lys225Arg) c.605A>G (p.Lys202Arg) n.843A>G n.519+3161A>G c.*594A>G (n.*594A>G) c.431A>G (p.Lys144Arg) c.842A>G (p.Lys281Arg) | |
| 9 | g.122381734A>T | CA374781404 | PTGS1 | c.749A>T (p.Lys250Ile) c.422A>T (p.Lys141Ile) c.440A>T (p.Lys147Ile) c.674A>T (p.Lys225Ile) c.605A>T (p.Lys202Ile) n.843A>T n.519+3161A>T c.*594A>T (n.*594A>T) c.431A>T (p.Lys144Ile) c.842A>T (p.Lys281Ile) | |
| 9 | g.122381735A= | CA1877496691 | PTGS1 | c.750A= (p.Lys250=) c.423A= (p.Lys141=) c.441A= (p.Lys147=) c.675A= (p.Lys225=) c.606A= (p.Lys202=) n.844A= n.519+3162A= c.*595A= (n.*595A=) c.432A= (p.Lys144=) c.843A= (p.Lys281=) | |
| 9 | g.122381735A>C | CA374781405 | PTGS1 | c.750A>C (p.Lys250Asn) c.423A>C (p.Lys141Asn) c.441A>C (p.Lys147Asn) c.675A>C (p.Lys225Asn) c.606A>C (p.Lys202Asn) n.844A>C n.519+3162A>C c.*595A>C (n.*595A>C) c.432A>C (p.Lys144Asn) c.843A>C (p.Lys281Asn) | |
| 9 | g.122381735A>G | CA467191241 | PTGS1 | c.750A>G (p.Lys250=) c.423A>G (p.Lys141=) c.441A>G (p.Lys147=) c.675A>G (p.Lys225=) c.606A>G (p.Lys202=) n.844A>G n.519+3162A>G c.*595A>G (n.*595A>G) c.432A>G (p.Lys144=) c.843A>G (p.Lys281=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381735A>T | CA374781406 | PTGS1 | c.750A>T (p.Lys250Asn) c.423A>T (p.Lys141Asn) c.441A>T (p.Lys147Asn) c.675A>T (p.Lys225Asn) c.606A>T (p.Lys202Asn) n.844A>T n.519+3162A>T c.*595A>T (n.*595A>T) c.432A>T (p.Lys144Asn) c.843A>T (p.Lys281Asn) | |
| 9 | g.122381736C>A | CA374781407 | PTGS1 | c.751C>A (p.Leu251Ile) c.424C>A (p.Leu142Ile) c.442C>A (p.Leu148Ile) c.676C>A (p.Leu226Ile) c.607C>A (p.Leu203Ile) n.845C>A n.519+3163C>A c.*596C>A (n.*596C>A) c.433C>A (p.Leu145Ile) c.844C>A (p.Leu282Ile) | |
| 9 | g.122381736C>G | CA374781408 | PTGS1 | c.751C>G (p.Leu251Val) c.424C>G (p.Leu142Val) c.442C>G (p.Leu148Val) c.676C>G (p.Leu226Val) c.607C>G (p.Leu203Val) n.845C>G n.519+3163C>G c.*596C>G (n.*596C>G) c.433C>G (p.Leu145Val) c.844C>G (p.Leu282Val) | |
| 9 | g.122381736C>T | CA374781409 | PTGS1 | c.751C>T (p.Leu251Phe) c.424C>T (p.Leu142Phe) c.442C>T (p.Leu148Phe) c.676C>T (p.Leu226Phe) c.607C>T (p.Leu203Phe) n.845C>T n.519+3163C>T c.*596C>T (n.*596C>T) c.433C>T (p.Leu145Phe) c.844C>T (p.Leu282Phe) | |
| 9 | g.122381737T>A | CA374781410 | PTGS1 | c.752T>A (p.Leu251His) c.425T>A (p.Leu142His) c.443T>A (p.Leu148His) c.677T>A (p.Leu226His) c.608T>A (p.Leu203His) n.846T>A n.519+3164T>A c.*597T>A (n.*597T>A) c.434T>A (p.Leu145His) c.845T>A (p.Leu282His) | |
| 9 | g.122381737T>C | CA374781411 | PTGS1 | c.752T>C (p.Leu251Pro) c.425T>C (p.Leu142Pro) c.443T>C (p.Leu148Pro) c.677T>C (p.Leu226Pro) c.608T>C (p.Leu203Pro) n.846T>C n.519+3164T>C c.*597T>C (n.*597T>C) c.434T>C (p.Leu145Pro) c.845T>C (p.Leu282Pro) | |
| 9 | g.122381737T>G | CA374781412 | PTGS1 | c.752T>G (p.Leu251Arg) c.425T>G (p.Leu142Arg) c.443T>G (p.Leu148Arg) c.677T>G (p.Leu226Arg) c.608T>G (p.Leu203Arg) n.846T>G n.519+3164T>G c.*597T>G (n.*597T>G) c.434T>G (p.Leu145Arg) c.845T>G (p.Leu282Arg) | |
| 9 | g.122381738C>A | CA467191247 | PTGS1 | c.753C>A (p.Leu251=) c.426C>A (p.Leu142=) c.444C>A (p.Leu148=) c.678C>A (p.Leu226=) c.609C>A (p.Leu203=) n.847C>A n.519+3165C>A c.*598C>A (n.*598C>A) c.435C>A (p.Leu145=) c.846C>A (p.Leu282=) | |
| 9 | g.122381738C= | CA1877496692 | PTGS1 | c.753C= (p.Leu251=) c.426C= (p.Leu142=) c.444C= (p.Leu148=) c.678C= (p.Leu226=) c.609C= (p.Leu203=) n.847C= n.519+3165C= c.*598C= (n.*598C=) c.435C= (p.Leu145=) c.846C= (p.Leu282=) | |
| 9 | g.122381738C>G | CA467191248 | PTGS1 | c.753C>G (p.Leu251=) c.426C>G (p.Leu142=) c.444C>G (p.Leu148=) c.678C>G (p.Leu226=) c.609C>G (p.Leu203=) n.847C>G n.519+3165C>G c.*598C>G (n.*598C>G) c.435C>G (p.Leu145=) c.846C>G (p.Leu282=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.122381738C>T | CA467191249 | PTGS1 | c.753C>T (p.Leu251=) c.426C>T (p.Leu142=) c.444C>T (p.Leu148=) c.678C>T (p.Leu226=) c.609C>T (p.Leu203=) n.847C>T n.519+3165C>T c.*598C>T (n.*598C>T) c.435C>T (p.Leu145=) c.846C>T (p.Leu282=) | dbSNP gnomAD v2 |
| 9 | g.122381739A= | CA1877496693 | PTGS1 | c.754A= (p.Lys252=) c.427A= (p.Lys143=) c.445A= (p.Lys149=) c.679A= (p.Lys227=) c.610A= (p.Lys204=) n.848A= n.519+3166A= c.*599A= (n.*599A=) c.436A= (p.Lys146=) c.847A= (p.Lys283=) | |
| 9 | g.122381739A>C | CA5224901 | PTGS1 | c.754A>C (p.Lys252Gln) c.427A>C (p.Lys143Gln) c.445A>C (p.Lys149Gln) c.679A>C (p.Lys227Gln) c.610A>C (p.Lys204Gln) n.848A>C n.519+3166A>C c.*599A>C (n.*599A>C) c.436A>C (p.Lys146Gln) c.847A>C (p.Lys283Gln) | dbSNP ExAC gnomAD v4 |
| 9 | g.122381739A>G | CA374781413 | PTGS1 | c.754A>G (p.Lys252Glu) c.427A>G (p.Lys143Glu) c.445A>G (p.Lys149Glu) c.679A>G (p.Lys227Glu) c.610A>G (p.Lys204Glu) n.848A>G n.519+3166A>G c.*599A>G (n.*599A>G) c.436A>G (p.Lys146Glu) c.847A>G (p.Lys283Glu) | dbSNP gnomAD v2 |
| 9 | g.122381739A>T | CA374781414 | PTGS1 | c.754A>T (p.Lys252Ter) c.427A>T (p.Lys143Ter) c.445A>T (p.Lys149Ter) c.679A>T (p.Lys227Ter) c.610A>T (p.Lys204Ter) n.848A>T n.519+3166A>T c.*599A>T (n.*599A>T) c.436A>T (p.Lys146Ter) c.847A>T (p.Lys283Ter) | |
| 9 | g.122381740A>C | CA374781415 | PTGS1 | c.755A>C (p.Lys252Thr) c.428A>C (p.Lys143Thr) c.446A>C (p.Lys149Thr) c.680A>C (p.Lys227Thr) c.611A>C (p.Lys204Thr) n.849A>C n.519+3167A>C c.*600A>C (n.*600A>C) c.437A>C (p.Lys146Thr) c.848A>C (p.Lys283Thr) | |
| 9 | g.122381740A>G | CA374781416 | PTGS1 | c.755A>G (p.Lys252Arg) c.428A>G (p.Lys143Arg) c.446A>G (p.Lys149Arg) c.680A>G (p.Lys227Arg) c.611A>G (p.Lys204Arg) n.849A>G n.519+3167A>G c.*600A>G (n.*600A>G) c.437A>G (p.Lys146Arg) c.848A>G (p.Lys283Arg) | |
| 9 | g.122381740A>T | CA374781417 | PTGS1 | c.755A>T (p.Lys252Met) c.428A>T (p.Lys143Met) c.446A>T (p.Lys149Met) c.680A>T (p.Lys227Met) c.611A>T (p.Lys204Met) n.849A>T n.519+3167A>T c.*600A>T (n.*600A>T) c.437A>T (p.Lys146Met) c.848A>T (p.Lys283Met) | |
| 9 | g.122381741G>A | CA5224902 | PTGS1 | c.756G>A (p.Lys252=) c.429G>A (p.Lys143=) c.447G>A (p.Lys149=) c.681G>A (p.Lys227=) c.612G>A (p.Lys204=) n.850G>A n.519+3168G>A c.*601G>A (n.*601G>A) c.438G>A (p.Lys146=) c.849G>A (p.Lys283=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381741G>C | CA374781419 | PTGS1 | c.756G>C (p.Lys252Asn) c.429G>C (p.Lys143Asn) c.447G>C (p.Lys149Asn) c.681G>C (p.Lys227Asn) c.612G>C (p.Lys204Asn) n.850G>C n.519+3168G>C c.*601G>C (n.*601G>C) c.438G>C (p.Lys146Asn) c.849G>C (p.Lys283Asn) | |
| 9 | g.122381741G= | CA1877496694 | PTGS1 | c.756G= (p.Lys252=) c.429G= (p.Lys143=) c.447G= (p.Lys149=) c.681G= (p.Lys227=) c.612G= (p.Lys204=) n.850G= n.519+3168G= c.*601G= (n.*601G=) c.438G= (p.Lys146=) c.849G= (p.Lys283=) | |
| 9 | g.122381741G>T | CA374781418 | PTGS1 | c.756G>T (p.Lys252Asn) c.429G>T (p.Lys143Asn) c.447G>T (p.Lys149Asn) c.681G>T (p.Lys227Asn) c.612G>T (p.Lys204Asn) n.850G>T n.519+3168G>T c.*601G>T (n.*601G>T) c.438G>T (p.Lys146Asn) c.849G>T (p.Lys283Asn) | |
| 9 | g.122381742T>A | CA374781420 | PTGS1 | c.757T>A (p.Tyr253Asn) c.430T>A (p.Tyr144Asn) c.448T>A (p.Tyr150Asn) c.682T>A (p.Tyr228Asn) c.613T>A (p.Tyr205Asn) n.851T>A n.519+3169T>A c.*602T>A (n.*602T>A) c.439T>A (p.Tyr147Asn) c.850T>A (p.Tyr284Asn) | |
| 9 | g.122381742T>C | CA374781421 | PTGS1 | c.757T>C (p.Tyr253His) c.430T>C (p.Tyr144His) c.448T>C (p.Tyr150His) c.682T>C (p.Tyr228His) c.613T>C (p.Tyr205His) n.851T>C n.519+3169T>C c.*602T>C (n.*602T>C) c.439T>C (p.Tyr147His) c.850T>C (p.Tyr284His) | |
| 9 | g.122381742T>G | CA374781422 | PTGS1 | c.757T>G (p.Tyr253Asp) c.430T>G (p.Tyr144Asp) c.448T>G (p.Tyr150Asp) c.682T>G (p.Tyr228Asp) c.613T>G (p.Tyr205Asp) n.851T>G n.519+3169T>G c.*602T>G (n.*602T>G) c.439T>G (p.Tyr147Asp) c.850T>G (p.Tyr284Asp) | |
| 9 | g.122381743A>C | CA374781423 | PTGS1 | c.758A>C (p.Tyr253Ser) c.431A>C (p.Tyr144Ser) c.449A>C (p.Tyr150Ser) c.683A>C (p.Tyr228Ser) c.614A>C (p.Tyr205Ser) n.852A>C n.519+3170A>C c.*603A>C (n.*603A>C) c.440A>C (p.Tyr147Ser) c.851A>C (p.Tyr284Ser) | |
| 9 | g.122381743A>G | CA374781424 | PTGS1 | c.758A>G (p.Tyr253Cys) c.431A>G (p.Tyr144Cys) c.449A>G (p.Tyr150Cys) c.683A>G (p.Tyr228Cys) c.614A>G (p.Tyr205Cys) n.852A>G n.519+3170A>G c.*603A>G (n.*603A>G) c.440A>G (p.Tyr147Cys) c.851A>G (p.Tyr284Cys) | |
| 9 | g.122381743A>T | CA374781425 | PTGS1 | c.758A>T (p.Tyr253Phe) c.431A>T (p.Tyr144Phe) c.449A>T (p.Tyr150Phe) c.683A>T (p.Tyr228Phe) c.614A>T (p.Tyr205Phe) n.852A>T n.519+3170A>T c.*603A>T (n.*603A>T) c.440A>T (p.Tyr147Phe) c.851A>T (p.Tyr284Phe) | |
| 9 | g.122381744C>A | CA374781426 | PTGS1 | c.759C>A (p.Tyr253Ter) c.432C>A (p.Tyr144Ter) c.450C>A (p.Tyr150Ter) c.684C>A (p.Tyr228Ter) c.615C>A (p.Tyr205Ter) n.853C>A n.519+3171C>A c.*604C>A (n.*604C>A) c.441C>A (p.Tyr147Ter) c.852C>A (p.Tyr284Ter) | |
| 9 | g.122381744C= | CA1877496695 | PTGS1 | c.759C= (p.Tyr253=) c.432C= (p.Tyr144=) c.450C= (p.Tyr150=) c.684C= (p.Tyr228=) c.615C= (p.Tyr205=) n.853C= n.519+3171C= c.*604C= (n.*604C=) c.441C= (p.Tyr147=) c.852C= (p.Tyr284=) | |
| 9 | g.122381744C>G | CA374781427 | PTGS1 | c.759C>G (p.Tyr253Ter) c.432C>G (p.Tyr144Ter) c.450C>G (p.Tyr150Ter) c.684C>G (p.Tyr228Ter) c.615C>G (p.Tyr205Ter) n.853C>G n.519+3171C>G c.*604C>G (n.*604C>G) c.441C>G (p.Tyr147Ter) c.852C>G (p.Tyr284Ter) | |
| 9 | g.122381744C>T | CA467191272 | PTGS1 | c.759C>T (p.Tyr253=) c.432C>T (p.Tyr144=) c.450C>T (p.Tyr150=) c.684C>T (p.Tyr228=) c.615C>T (p.Tyr205=) n.853C>T n.519+3171C>T c.*604C>T (n.*604C>T) c.441C>T (p.Tyr147=) c.852C>T (p.Tyr284=) | dbSNP gnomAD v4 |
| 9 | g.122381745C>A | CA374781428 | PTGS1 | c.760C>A (p.Gln254Lys) c.433C>A (p.Gln145Lys) c.451C>A (p.Gln151Lys) c.685C>A (p.Gln229Lys) c.616C>A (p.Gln206Lys) n.854C>A n.519+3172C>A c.*605C>A (n.*605C>A) c.442C>A (p.Gln148Lys) c.853C>A (p.Gln285Lys) | |
| 9 | g.122381745C= | CA1877496696 | PTGS1 | c.760C= (p.Gln254=) c.433C= (p.Gln145=) c.451C= (p.Gln151=) c.685C= (p.Gln229=) c.616C= (p.Gln206=) n.854C= n.519+3172C= c.*605C= (n.*605C=) c.442C= (p.Gln148=) c.853C= (p.Gln285=) | |
| 9 | g.122381745C>G | CA374781429 | PTGS1 | c.760C>G (p.Gln254Glu) c.433C>G (p.Gln145Glu) c.451C>G (p.Gln151Glu) c.685C>G (p.Gln229Glu) c.616C>G (p.Gln206Glu) n.854C>G n.519+3172C>G c.*605C>G (n.*605C>G) c.442C>G (p.Gln148Glu) c.853C>G (p.Gln285Glu) | |
| 9 | g.122381745C>T | CA199479123 | PTGS1 | c.760C>T (p.Gln254Ter) c.433C>T (p.Gln145Ter) c.451C>T (p.Gln151Ter) c.685C>T (p.Gln229Ter) c.616C>T (p.Gln206Ter) n.854C>T n.519+3172C>T c.*605C>T (n.*605C>T) c.442C>T (p.Gln148Ter) c.853C>T (p.Gln285Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381746A>C | CA374781432 | PTGS1 | c.761A>C (p.Gln254Pro) c.434A>C (p.Gln145Pro) c.452A>C (p.Gln151Pro) c.686A>C (p.Gln229Pro) c.617A>C (p.Gln206Pro) n.855A>C n.519+3173A>C c.*606A>C (n.*606A>C) c.443A>C (p.Gln148Pro) c.854A>C (p.Gln285Pro) | |
| 9 | g.122381746A>G | CA374781431 | PTGS1 | c.761A>G (p.Gln254Arg) c.434A>G (p.Gln145Arg) c.452A>G (p.Gln151Arg) c.686A>G (p.Gln229Arg) c.617A>G (p.Gln206Arg) n.855A>G n.519+3173A>G c.*606A>G (n.*606A>G) c.443A>G (p.Gln148Arg) c.854A>G (p.Gln285Arg) | |
| 9 | g.122381746A>T | CA374781430 | PTGS1 | c.761A>T (p.Gln254Leu) c.434A>T (p.Gln145Leu) c.452A>T (p.Gln151Leu) c.686A>T (p.Gln229Leu) c.617A>T (p.Gln206Leu) n.855A>T n.519+3173A>T c.*606A>T (n.*606A>T) c.443A>T (p.Gln148Leu) c.854A>T (p.Gln285Leu) | |
| 9 | g.122381747G>A | CA467191283 | PTGS1 | c.762G>A (p.Gln254=) c.435G>A (p.Gln145=) c.453G>A (p.Gln151=) c.687G>A (p.Gln229=) c.618G>A (p.Gln206=) n.856G>A n.519+3174G>A c.*607G>A (n.*607G>A) c.444G>A (p.Gln148=) c.855G>A (p.Gln285=) | |
| 9 | g.122381747G>C | CA374781433 | PTGS1 | c.762G>C (p.Gln254His) c.435G>C (p.Gln145His) c.453G>C (p.Gln151His) c.687G>C (p.Gln229His) c.618G>C (p.Gln206His) n.856G>C n.519+3174G>C c.*607G>C (n.*607G>C) c.444G>C (p.Gln148His) c.855G>C (p.Gln285His) | |
| 9 | g.122381747G>T | CA374781434 | PTGS1 | c.762G>T (p.Gln254His) c.435G>T (p.Gln145His) c.453G>T (p.Gln151His) c.687G>T (p.Gln229His) c.618G>T (p.Gln206His) n.856G>T n.519+3174G>T c.*607G>T (n.*607G>T) c.444G>T (p.Gln148His) c.855G>T (p.Gln285His) | |
| 9 | g.122381748G>A | CA374781435 | PTGS1 | c.762+1G>A (n.762+1G>A) c.435+1G>A (n.435+1G>A) c.453+1G>A (n.453+1G>A) c.687+1G>A (n.687+1G>A) c.618+1G>A (n.618+1G>A) n.856+1G>A n.519+3175G>A c.*607+1G>A (n.*607+1G>A) c.444+1G>A (n.444+1G>A) c.855+1G>A (n.855+1G>A) | |
| 9 | g.122381748G>C | CA374781436 | PTGS1 | c.762+1G>C (n.762+1G>C) c.435+1G>C (n.435+1G>C) c.453+1G>C (n.453+1G>C) c.687+1G>C (n.687+1G>C) c.618+1G>C (n.618+1G>C) n.856+1G>C n.519+3175G>C c.*607+1G>C (n.*607+1G>C) c.444+1G>C (n.444+1G>C) c.855+1G>C (n.855+1G>C) | |
| 9 | g.122381748G>T | CA374781437 | PTGS1 | c.762+1G>T (n.762+1G>T) c.435+1G>T (n.435+1G>T) c.453+1G>T (n.453+1G>T) c.687+1G>T (n.687+1G>T) c.618+1G>T (n.618+1G>T) n.856+1G>T n.519+3175G>T c.*607+1G>T (n.*607+1G>T) c.444+1G>T (n.444+1G>T) c.855+1G>T (n.855+1G>T) | |
| 9 | g.122381749T>A | CA374781438 | PTGS1 | c.762+2T>A (n.762+2T>A) c.435+2T>A (n.435+2T>A) c.453+2T>A (n.453+2T>A) c.687+2T>A (n.687+2T>A) c.618+2T>A (n.618+2T>A) n.856+2T>A n.519+3176T>A c.*607+2T>A (n.*607+2T>A) c.444+2T>A (n.444+2T>A) c.855+2T>A (n.855+2T>A) | |
| 9 | g.122381749T>C | CA374781439 | PTGS1 | c.762+2T>C (n.762+2T>C) c.435+2T>C (n.435+2T>C) c.453+2T>C (n.453+2T>C) c.687+2T>C (n.687+2T>C) c.618+2T>C (n.618+2T>C) n.856+2T>C n.519+3176T>C c.*607+2T>C (n.*607+2T>C) c.444+2T>C (n.444+2T>C) c.855+2T>C (n.855+2T>C) | |
| 9 | g.122381749T>G | CA374781440 | PTGS1 | c.762+2T>G (n.762+2T>G) c.435+2T>G (n.435+2T>G) c.453+2T>G (n.453+2T>G) c.687+2T>G (n.687+2T>G) c.618+2T>G (n.618+2T>G) n.856+2T>G n.519+3176T>G c.*607+2T>G (n.*607+2T>G) c.444+2T>G (n.444+2T>G) c.855+2T>G (n.855+2T>G) | |
| 9 | g.122381750A= | CA1877496697 | PTGS1 | c.762+3A= (n.762+3A=) c.435+3A= (n.435+3A=) c.453+3A= (n.453+3A=) c.687+3A= (n.687+3A=) c.618+3A= (n.618+3A=) n.856+3A= n.519+3177A= c.*607+3A= (n.*607+3A=) c.444+3A= (n.444+3A=) c.855+3A= (n.855+3A=) | |
| 9 | g.122381750A>G | CA859701116 | PTGS1 | c.762+3A>G (n.762+3A>G) c.435+3A>G (n.435+3A>G) c.453+3A>G (n.453+3A>G) c.687+3A>G (n.687+3A>G) c.618+3A>G (n.618+3A>G) n.856+3A>G n.519+3177A>G c.*607+3A>G (n.*607+3A>G) c.444+3A>G (n.444+3A>G) c.855+3A>G (n.855+3A>G) | dbSNP |
| 9 | g.122381751G>A | CA590503367 | PTGS1 | c.762+4G>A (n.762+4G>A) c.435+4G>A (n.435+4G>A) c.453+4G>A (n.453+4G>A) c.687+4G>A (n.687+4G>A) c.618+4G>A (n.618+4G>A) n.856+4G>A n.519+3178G>A c.*607+4G>A (n.*607+4G>A) c.444+4G>A (n.444+4G>A) c.855+4G>A (n.855+4G>A) | dbSNP gnomAD v2 |
| 9 | g.122381751G>C | CA1877496698 | PTGS1 | c.762+4G>C (n.762+4G>C) c.435+4G>C (n.435+4G>C) c.453+4G>C (n.453+4G>C) c.687+4G>C (n.687+4G>C) c.618+4G>C (n.618+4G>C) n.856+4G>C n.519+3178G>C c.*607+4G>C (n.*607+4G>C) c.444+4G>C (n.444+4G>C) c.855+4G>C (n.855+4G>C) | dbSNP |
| 9 | g.122381751G= | CA1877496699 | PTGS1 | c.762+4G= (n.762+4G=) c.435+4G= (n.435+4G=) c.453+4G= (n.453+4G=) c.687+4G= (n.687+4G=) c.618+4G= (n.618+4G=) n.856+4G= n.519+3178G= c.*607+4G= (n.*607+4G=) c.444+4G= (n.444+4G=) c.855+4G= (n.855+4G=) | |
| 9 | g.122381751G>T | CA590503368 | PTGS1 | c.762+4G>T (n.762+4G>T) c.435+4G>T (n.435+4G>T) c.453+4G>T (n.453+4G>T) c.687+4G>T (n.687+4G>T) c.618+4G>T (n.618+4G>T) n.856+4G>T n.519+3178G>T c.*607+4G>T (n.*607+4G>T) c.444+4G>T (n.444+4G>T) c.855+4G>T (n.855+4G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381752T>G | CA2579443421 | PTGS1 | c.762+5T>G (n.762+5T>G) c.435+5T>G (n.435+5T>G) c.453+5T>G (n.453+5T>G) c.687+5T>G (n.687+5T>G) c.618+5T>G (n.618+5T>G) n.856+5T>G n.519+3179T>G c.*607+5T>G (n.*607+5T>G) c.444+5T>G (n.444+5T>G) c.855+5T>G (n.855+5T>G) | gnomAD v4 |
| 9 | g.122381754C>G | CA2691551932 | PTGS1 | c.762+7C>G (n.762+7C>G) c.435+7C>G (n.435+7C>G) c.453+7C>G (n.453+7C>G) c.687+7C>G (n.687+7C>G) c.618+7C>G (n.618+7C>G) n.856+7C>G n.519+3181C>G c.*607+7C>G (n.*607+7C>G) c.444+7C>G (n.444+7C>G) c.855+7C>G (n.855+7C>G) | gnomAD v4 |
| 9 | g.122381756G>C | CA1877496701 | PTGS1 | c.762+9G>C (n.762+9G>C) c.435+9G>C (n.435+9G>C) c.453+9G>C (n.453+9G>C) c.687+9G>C (n.687+9G>C) c.618+9G>C (n.618+9G>C) n.856+9G>C n.519+3183G>C c.*607+9G>C (n.*607+9G>C) c.444+9G>C (n.444+9G>C) c.855+9G>C (n.855+9G>C) | dbSNP |
| 9 | g.122381756G= | CA1877496700 | PTGS1 | c.762+9G= (n.762+9G=) c.435+9G= (n.435+9G=) c.453+9G= (n.453+9G=) c.687+9G= (n.687+9G=) c.618+9G= (n.618+9G=) n.856+9G= n.519+3183G= c.*607+9G= (n.*607+9G=) c.444+9G= (n.444+9G=) c.855+9G= (n.855+9G=) | |
| 9 | g.122381757G>A | CA5224903 | PTGS1 | c.762+10G>A (n.762+10G>A) c.435+10G>A (n.435+10G>A) c.453+10G>A (n.453+10G>A) c.687+10G>A (n.687+10G>A) c.618+10G>A (n.618+10G>A) n.856+10G>A n.519+3184G>A c.*607+10G>A (n.*607+10G>A) c.444+10G>A (n.444+10G>A) c.855+10G>A (n.855+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381757G= | CA1877496702 | PTGS1 | c.762+10G= (n.762+10G=) c.435+10G= (n.435+10G=) c.453+10G= (n.453+10G=) c.687+10G= (n.687+10G=) c.618+10G= (n.618+10G=) n.856+10G= n.519+3184G= c.*607+10G= (n.*607+10G=) c.444+10G= (n.444+10G=) c.855+10G= (n.855+10G=) | |
| 9 | g.122381758G>A | CA5224905 | PTGS1 | c.762+11G>A (n.762+11G>A) c.435+11G>A (n.435+11G>A) c.453+11G>A (n.453+11G>A) c.687+11G>A (n.687+11G>A) c.618+11G>A (n.618+11G>A) n.856+11G>A n.519+3185G>A c.*607+11G>A (n.*607+11G>A) c.444+11G>A (n.444+11G>A) c.855+11G>A (n.855+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.122381758G>C | CA590503369 | PTGS1 | c.762+11G>C (n.762+11G>C) c.435+11G>C (n.435+11G>C) c.453+11G>C (n.453+11G>C) c.687+11G>C (n.687+11G>C) c.618+11G>C (n.618+11G>C) n.856+11G>C n.519+3185G>C c.*607+11G>C (n.*607+11G>C) c.444+11G>C (n.444+11G>C) c.855+11G>C (n.855+11G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381758G= | CA1877496703 | PTGS1 | c.762+11G= (n.762+11G=) c.435+11G= (n.435+11G=) c.453+11G= (n.453+11G=) c.687+11G= (n.687+11G=) c.618+11G= (n.618+11G=) n.856+11G= n.519+3185G= c.*607+11G= (n.*607+11G=) c.444+11G= (n.444+11G=) c.855+11G= (n.855+11G=) | |
| 9 | g.122381758_122381759delinsGC | CA1877496704 | PTGS1 | c.762+11_762+12delinsGC (n.762+11_762+12delinsGC) c.435+11_435+12delinsGC (n.435+11_435+12delinsGC) c.453+11_453+12delinsGC (n.453+11_453+12delinsGC) c.687+11_687+12delinsGC (n.687+11_687+12delinsGC) c.618+11_618+12delinsGC (n.618+11_618+12delinsGC) n.856+11_856+12delinsGC n.519+3185_519+3186delinsGC c.*607+11_*607+12delinsGC (n.*607+11_*607+12delinsGC) c.444+11_444+12delinsGC (n.444+11_444+12delinsGC) c.855+11_855+12delinsGC (n.855+11_855+12delinsGC) | |
| 9 | g.122381759C>A | CA2691551933 | PTGS1 | c.762+12C>A (n.762+12C>A) c.435+12C>A (n.435+12C>A) c.453+12C>A (n.453+12C>A) c.687+12C>A (n.687+12C>A) c.618+12C>A (n.618+12C>A) n.856+12C>A n.519+3186C>A c.*607+12C>A (n.*607+12C>A) c.444+12C>A (n.444+12C>A) c.855+12C>A (n.855+12C>A) | gnomAD v4 |
| 9 | g.122381759C= | CA1877496706 | PTGS1 | c.762+12C= (n.762+12C=) c.435+12C= (n.435+12C=) c.453+12C= (n.453+12C=) c.687+12C= (n.687+12C=) c.618+12C= (n.618+12C=) n.856+12C= n.519+3186C= c.*607+12C= (n.*607+12C=) c.444+12C= (n.444+12C=) c.855+12C= (n.855+12C=) | |
| 9 | g.122381759C>T | CA1877496705 | PTGS1 | c.762+12C>T (n.762+12C>T) c.435+12C>T (n.435+12C>T) c.453+12C>T (n.453+12C>T) c.687+12C>T (n.687+12C>T) c.618+12C>T (n.618+12C>T) n.856+12C>T n.519+3186C>T c.*607+12C>T (n.*607+12C>T) c.444+12C>T (n.444+12C>T) c.855+12C>T (n.855+12C>T) | dbSNP |
| 9 | g.122381760del | CA5224904 | PTGS1 | c.762+13del (n.762+13del) c.435+13del (n.435+13del) c.453+13del (n.453+13del) c.687+13del (n.687+13del) c.618+13del (n.618+13del) n.856+13del n.519+3187del c.*607+13del (n.*607+13del) c.444+13del (n.444+13del) c.855+13del (n.855+13del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381760C= | CA1877496708 | PTGS1 | c.762+13C= (n.762+13C=) c.435+13C= (n.435+13C=) c.453+13C= (n.453+13C=) c.687+13C= (n.687+13C=) c.618+13C= (n.618+13C=) n.856+13C= n.519+3187C= c.*607+13C= (n.*607+13C=) c.444+13C= (n.444+13C=) c.855+13C= (n.855+13C=) | |
| 9 | g.122381760C>T | CA2691551934 | PTGS1 | c.762+13C>T (n.762+13C>T) c.435+13C>T (n.435+13C>T) c.453+13C>T (n.453+13C>T) c.687+13C>T (n.687+13C>T) c.618+13C>T (n.618+13C>T) n.856+13C>T n.519+3187C>T c.*607+13C>T (n.*607+13C>T) c.444+13C>T (n.444+13C>T) c.855+13C>T (n.855+13C>T) | gnomAD v4 |
| 9 | g.122381760_122381761delinsCA | CA1877496707 | PTGS1 | c.762+13_762+14delinsCA (n.762+13_762+14delinsCA) c.435+13_435+14delinsCA (n.435+13_435+14delinsCA) c.453+13_453+14delinsCA (n.453+13_453+14delinsCA) c.687+13_687+14delinsCA (n.687+13_687+14delinsCA) c.618+13_618+14delinsCA (n.618+13_618+14delinsCA) n.856+13_856+14delinsCA n.519+3187_519+3188delinsCA c.*607+13_*607+14delinsCA (n.*607+13_*607+14delinsCA) c.444+13_444+14delinsCA (n.444+13_444+14delinsCA) c.855+13_855+14delinsCA (n.855+13_855+14delinsCA) | |
| 9 | g.122381761del | CA5224906 | PTGS1 | c.762+14del (n.762+14del) c.435+14del (n.435+14del) c.453+14del (n.453+14del) c.687+14del (n.687+14del) c.618+14del (n.618+14del) n.856+14del n.519+3188del c.*607+14del (n.*607+14del) c.444+14del (n.444+14del) c.855+14del (n.855+14del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.122381761A= | CA1877496710 | PTGS1 | c.762+14A= (n.762+14A=) c.435+14A= (n.435+14A=) c.453+14A= (n.453+14A=) c.687+14A= (n.687+14A=) c.618+14A= (n.618+14A=) n.856+14A= n.519+3188A= c.*607+14A= (n.*607+14A=) c.444+14A= (n.444+14A=) c.855+14A= (n.855+14A=) | |
| 9 | g.122381761A>C | CA199479173 | PTGS1 | c.762+14A>C (n.762+14A>C) c.435+14A>C (n.435+14A>C) c.453+14A>C (n.453+14A>C) c.687+14A>C (n.687+14A>C) c.618+14A>C (n.618+14A>C) n.856+14A>C n.519+3188A>C c.*607+14A>C (n.*607+14A>C) c.444+14A>C (n.444+14A>C) c.855+14A>C (n.855+14A>C) | dbSNP |
| 9 | g.122381761A>G | CA199479174 | PTGS1 | c.762+14A>G (n.762+14A>G) c.435+14A>G (n.435+14A>G) c.453+14A>G (n.453+14A>G) c.687+14A>G (n.687+14A>G) c.618+14A>G (n.618+14A>G) n.856+14A>G n.519+3188A>G c.*607+14A>G (n.*607+14A>G) c.444+14A>G (n.444+14A>G) c.855+14A>G (n.855+14A>G) | dbSNP gnomAD v4 |
| 9 | g.122381761A>T | CA5224908 | PTGS1 | c.762+14A>T (n.762+14A>T) c.435+14A>T (n.435+14A>T) c.453+14A>T (n.453+14A>T) c.687+14A>T (n.687+14A>T) c.618+14A>T (n.618+14A>T) n.856+14A>T n.519+3188A>T c.*607+14A>T (n.*607+14A>T) c.444+14A>T (n.444+14A>T) c.855+14A>T (n.855+14A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381761dup | CA199479154 | PTGS1 | c.762+14dup (n.762+14dup) c.435+14dup (n.435+14dup) c.453+14dup (n.453+14dup) c.687+14dup (n.687+14dup) c.618+14dup (n.618+14dup) n.856+14dup n.519+3188dup c.*607+14dup (n.*607+14dup) c.444+14dup (n.444+14dup) c.855+14dup (n.855+14dup) | dbSNP |
| 9 | g.122381761_122381762del | CA2691551935 | PTGS1 | c.762+14_762+15del (n.762+14_762+15del) c.435+14_435+15del (n.435+14_435+15del) c.453+14_453+15del (n.453+14_453+15del) c.687+14_687+15del (n.687+14_687+15del) c.618+14_618+15del (n.618+14_618+15del) n.856+14_856+15del n.519+3188_519+3189del c.*607+14_*607+15del (n.*607+14_*607+15del) c.444+14_444+15del (n.444+14_444+15del) c.855+14_855+15del (n.855+14_855+15del) | gnomAD v4 |
| 9 | g.122381761_122381762delinsAG | CA1877496709 | PTGS1 | c.762+14_762+15delinsAG (n.762+14_762+15delinsAG) c.435+14_435+15delinsAG (n.435+14_435+15delinsAG) c.453+14_453+15delinsAG (n.453+14_453+15delinsAG) c.687+14_687+15delinsAG (n.687+14_687+15delinsAG) c.618+14_618+15delinsAG (n.618+14_618+15delinsAG) n.856+14_856+15delinsAG n.519+3188_519+3189delinsAG c.*607+14_*607+15delinsAG (n.*607+14_*607+15delinsAG) c.444+14_444+15delinsAG (n.444+14_444+15delinsAG) c.855+14_855+15delinsAG (n.855+14_855+15delinsAG) | |
| 9 | g.122381762G>A | CA590503370 | PTGS1 | c.762+15G>A (n.762+15G>A) c.435+15G>A (n.435+15G>A) c.453+15G>A (n.453+15G>A) c.687+15G>A (n.687+15G>A) c.618+15G>A (n.618+15G>A) n.856+15G>A n.519+3189G>A c.*607+15G>A (n.*607+15G>A) c.444+15G>A (n.444+15G>A) c.855+15G>A (n.855+15G>A) | gnomAD v2 |
| 9 | g.122381762G= | CA1877496711 | PTGS1 | c.762+15G= (n.762+15G=) c.435+15G= (n.435+15G=) c.453+15G= (n.453+15G=) c.687+15G= (n.687+15G=) c.618+15G= (n.618+15G=) n.856+15G= n.519+3189G= c.*607+15G= (n.*607+15G=) c.444+15G= (n.444+15G=) c.855+15G= (n.855+15G=) | |
| 9 | g.122381762G>T | CA1877496712 | PTGS1 | c.762+15G>T (n.762+15G>T) c.435+15G>T (n.435+15G>T) c.453+15G>T (n.453+15G>T) c.687+15G>T (n.687+15G>T) c.618+15G>T (n.618+15G>T) n.856+15G>T n.519+3189G>T c.*607+15G>T (n.*607+15G>T) c.444+15G>T (n.444+15G>T) c.855+15G>T (n.855+15G>T) | dbSNP |
| 9 | g.122381766dup | CA5224907 | PTGS1 | c.762+19dup (n.762+19dup) c.435+19dup (n.435+19dup) c.453+19dup (n.453+19dup) c.687+19dup (n.687+19dup) c.618+19dup (n.618+19dup) n.856+19dup n.519+3193dup c.*607+19dup (n.*607+19dup) c.444+19dup (n.444+19dup) c.855+19dup (n.855+19dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381766del | CA5224909 | PTGS1 | c.762+19del (n.762+19del) c.435+19del (n.435+19del) c.453+19del (n.453+19del) c.687+19del (n.687+19del) c.618+19del (n.618+19del) n.856+19del n.519+3193del c.*607+19del (n.*607+19del) c.444+19del (n.444+19del) c.855+19del (n.855+19del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381763G>A | CA5224910 | PTGS1 | c.762+16G>A (n.762+16G>A) c.435+16G>A (n.435+16G>A) c.453+16G>A (n.453+16G>A) c.687+16G>A (n.687+16G>A) c.618+16G>A (n.618+16G>A) n.856+16G>A n.519+3190G>A c.*607+16G>A (n.*607+16G>A) c.444+16G>A (n.444+16G>A) c.855+16G>A (n.855+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381763G>C | CA5224911 | PTGS1 | c.762+16G>C (n.762+16G>C) c.435+16G>C (n.435+16G>C) c.453+16G>C (n.453+16G>C) c.687+16G>C (n.687+16G>C) c.618+16G>C (n.618+16G>C) n.856+16G>C n.519+3190G>C c.*607+16G>C (n.*607+16G>C) c.444+16G>C (n.444+16G>C) c.855+16G>C (n.855+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381763G= | CA1877496713 | PTGS1 | c.762+16G= (n.762+16G=) c.435+16G= (n.435+16G=) c.453+16G= (n.453+16G=) c.687+16G= (n.687+16G=) c.618+16G= (n.618+16G=) n.856+16G= n.519+3190G= c.*607+16G= (n.*607+16G=) c.444+16G= (n.444+16G=) c.855+16G= (n.855+16G=) | |
| 9 | g.122381763G>T | CA2536729298 | PTGS1 | c.762+16G>T (n.762+16G>T) c.435+16G>T (n.435+16G>T) c.453+16G>T (n.453+16G>T) c.687+16G>T (n.687+16G>T) c.618+16G>T (n.618+16G>T) n.856+16G>T n.519+3190G>T c.*607+16G>T (n.*607+16G>T) c.444+16G>T (n.444+16G>T) c.855+16G>T (n.855+16G>T) | |
| 9 | g.122381768_122381784dup | CA590503371 | PTGS1 | c.762+21_762+37dup (n.762+21_762+37dup) c.435+21_435+37dup (n.435+21_435+37dup) c.453+21_453+37dup (n.453+21_453+37dup) c.687+21_687+37dup (n.687+21_687+37dup) c.618+21_618+37dup (n.618+21_618+37dup) n.856+21_856+37dup n.519+3195_519+3211dup c.*607+21_*607+37dup (n.*607+21_*607+37dup) c.444+21_444+37dup (n.444+21_444+37dup) c.855+21_855+37dup (n.855+21_855+37dup) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381764G>C | CA5224912 | PTGS1 | c.762+17G>C (n.762+17G>C) c.435+17G>C (n.435+17G>C) c.453+17G>C (n.453+17G>C) c.687+17G>C (n.687+17G>C) c.618+17G>C (n.618+17G>C) n.856+17G>C n.519+3191G>C c.*607+17G>C (n.*607+17G>C) c.444+17G>C (n.444+17G>C) c.855+17G>C (n.855+17G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381764G= | CA1877496714 | PTGS1 | c.762+17G= (n.762+17G=) c.435+17G= (n.435+17G=) c.453+17G= (n.453+17G=) c.687+17G= (n.687+17G=) c.618+17G= (n.618+17G=) n.856+17G= n.519+3191G= c.*607+17G= (n.*607+17G=) c.444+17G= (n.444+17G=) c.855+17G= (n.855+17G=) | |
| 9 | g.122381764G>T | CA199479225 | PTGS1 | c.762+17G>T (n.762+17G>T) c.435+17G>T (n.435+17G>T) c.453+17G>T (n.453+17G>T) c.687+17G>T (n.687+17G>T) c.618+17G>T (n.618+17G>T) n.856+17G>T n.519+3191G>T c.*607+17G>T (n.*607+17G>T) c.444+17G>T (n.444+17G>T) c.855+17G>T (n.855+17G>T) | dbSNP gnomAD v4 |
| 9 | g.122381766G>A | CA2691551936 | PTGS1 | c.762+19G>A (n.762+19G>A) c.435+19G>A (n.435+19G>A) c.453+19G>A (n.453+19G>A) c.687+19G>A (n.687+19G>A) c.618+19G>A (n.618+19G>A) n.856+19G>A n.519+3193G>A c.*607+19G>A (n.*607+19G>A) c.444+19G>A (n.444+19G>A) c.855+19G>A (n.855+19G>A) | gnomAD v4 |
| 9 | g.122381766G= | CA1877496715 | PTGS1 | c.762+19G= (n.762+19G=) c.435+19G= (n.435+19G=) c.453+19G= (n.453+19G=) c.687+19G= (n.687+19G=) c.618+19G= (n.618+19G=) n.856+19G= n.519+3193G= c.*607+19G= (n.*607+19G=) c.444+19G= (n.444+19G=) c.855+19G= (n.855+19G=) | |
| 9 | g.122381766G>T | CA1877496716 | PTGS1 | c.762+19G>T (n.762+19G>T) c.435+19G>T (n.435+19G>T) c.453+19G>T (n.453+19G>T) c.687+19G>T (n.687+19G>T) c.618+19G>T (n.618+19G>T) n.856+19G>T n.519+3193G>T c.*607+19G>T (n.*607+19G>T) c.444+19G>T (n.444+19G>T) c.855+19G>T (n.855+19G>T) | dbSNP gnomAD v4 |
| 9 | g.122381767T>A | CA859701139 | PTGS1 | c.762+20T>A (n.762+20T>A) c.435+20T>A (n.435+20T>A) c.453+20T>A (n.453+20T>A) c.687+20T>A (n.687+20T>A) c.618+20T>A (n.618+20T>A) n.856+20T>A n.519+3194T>A c.*607+20T>A (n.*607+20T>A) c.444+20T>A (n.444+20T>A) c.855+20T>A (n.855+20T>A) | dbSNP |
| 9 | g.122381767T>C | CA5224913 | PTGS1 | c.762+20T>C (n.762+20T>C) c.435+20T>C (n.435+20T>C) c.453+20T>C (n.453+20T>C) c.687+20T>C (n.687+20T>C) c.618+20T>C (n.618+20T>C) n.856+20T>C n.519+3194T>C c.*607+20T>C (n.*607+20T>C) c.444+20T>C (n.444+20T>C) c.855+20T>C (n.855+20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381767T= | CA1877496717 | PTGS1 | c.762+20T= (n.762+20T=) c.435+20T= (n.435+20T=) c.453+20T= (n.453+20T=) c.687+20T= (n.687+20T=) c.618+20T= (n.618+20T=) n.856+20T= n.519+3194T= c.*607+20T= (n.*607+20T=) c.444+20T= (n.444+20T=) c.855+20T= (n.855+20T=) | |
| 9 | g.122381768A= | CA1877496718 | PTGS1 | c.762+21A= (n.762+21A=) c.435+21A= (n.435+21A=) c.453+21A= (n.453+21A=) c.687+21A= (n.687+21A=) c.618+21A= (n.618+21A=) n.856+21A= n.519+3195A= c.*607+21A= (n.*607+21A=) c.444+21A= (n.444+21A=) c.855+21A= (n.855+21A=) | |
| 9 | g.122381768A>G | CA5224915 | PTGS1 | c.762+21A>G (n.762+21A>G) c.435+21A>G (n.435+21A>G) c.453+21A>G (n.453+21A>G) c.687+21A>G (n.687+21A>G) c.618+21A>G (n.618+21A>G) n.856+21A>G n.519+3195A>G c.*607+21A>G (n.*607+21A>G) c.444+21A>G (n.444+21A>G) c.855+21A>G (n.855+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381768A>T | CA5224914 | PTGS1 | c.762+21A>T (n.762+21A>T) c.435+21A>T (n.435+21A>T) c.453+21A>T (n.453+21A>T) c.687+21A>T (n.687+21A>T) c.618+21A>T (n.618+21A>T) n.856+21A>T n.519+3195A>T c.*607+21A>T (n.*607+21A>T) c.444+21A>T (n.444+21A>T) c.855+21A>T (n.855+21A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381769G>C | CA2691551937 | PTGS1 | c.762+22G>C (n.762+22G>C) c.435+22G>C (n.435+22G>C) c.453+22G>C (n.453+22G>C) c.687+22G>C (n.687+22G>C) c.618+22G>C (n.618+22G>C) n.856+22G>C n.519+3196G>C c.*607+22G>C (n.*607+22G>C) c.444+22G>C (n.444+22G>C) c.855+22G>C (n.855+22G>C) | gnomAD v4 |
| 9 | g.122381770G>A | CA590503372 | PTGS1 | c.762+23G>A (n.762+23G>A) c.435+23G>A (n.435+23G>A) c.453+23G>A (n.453+23G>A) c.687+23G>A (n.687+23G>A) c.618+23G>A (n.618+23G>A) n.856+23G>A n.519+3197G>A c.*607+23G>A (n.*607+23G>A) c.444+23G>A (n.444+23G>A) c.855+23G>A (n.855+23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381770G= | CA1877496719 | PTGS1 | c.762+23G= (n.762+23G=) c.435+23G= (n.435+23G=) c.453+23G= (n.453+23G=) c.687+23G= (n.687+23G=) c.618+23G= (n.618+23G=) n.856+23G= n.519+3197G= c.*607+23G= (n.*607+23G=) c.444+23G= (n.444+23G=) c.855+23G= (n.855+23G=) | |
| 9 | g.122381770G>T | CA1877496720 | PTGS1 | c.762+23G>T (n.762+23G>T) c.435+23G>T (n.435+23G>T) c.453+23G>T (n.453+23G>T) c.687+23G>T (n.687+23G>T) c.618+23G>T (n.618+23G>T) n.856+23G>T n.519+3197G>T c.*607+23G>T (n.*607+23G>T) c.444+23G>T (n.444+23G>T) c.855+23G>T (n.855+23G>T) | dbSNP gnomAD v4 |
| 9 | g.122381771G>A | CA2691551938 | PTGS1 | c.762+24G>A (n.762+24G>A) c.435+24G>A (n.435+24G>A) c.453+24G>A (n.453+24G>A) c.687+24G>A (n.687+24G>A) c.618+24G>A (n.618+24G>A) n.856+24G>A n.519+3198G>A c.*607+24G>A (n.*607+24G>A) c.444+24G>A (n.444+24G>A) c.855+24G>A (n.855+24G>A) | gnomAD v4 |
| 9 | g.122381772C>A | CA590503373 | PTGS1 | c.762+25C>A (n.762+25C>A) c.435+25C>A (n.435+25C>A) c.453+25C>A (n.453+25C>A) c.687+25C>A (n.687+25C>A) c.618+25C>A (n.618+25C>A) n.856+25C>A n.519+3199C>A c.*607+25C>A (n.*607+25C>A) c.444+25C>A (n.444+25C>A) c.855+25C>A (n.855+25C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381772C= | CA1877496721 | PTGS1 | c.762+25C= (n.762+25C=) c.435+25C= (n.435+25C=) c.453+25C= (n.453+25C=) c.687+25C= (n.687+25C=) c.618+25C= (n.618+25C=) n.856+25C= n.519+3199C= c.*607+25C= (n.*607+25C=) c.444+25C= (n.444+25C=) c.855+25C= (n.855+25C=) | |
| 9 | g.122381772_122381773delinsCA | CA1877496722 | PTGS1 | c.762+25_762+26delinsCA (n.762+25_762+26delinsCA) c.435+25_435+26delinsCA (n.435+25_435+26delinsCA) c.453+25_453+26delinsCA (n.453+25_453+26delinsCA) c.687+25_687+26delinsCA (n.687+25_687+26delinsCA) c.618+25_618+26delinsCA (n.618+25_618+26delinsCA) n.856+25_856+26delinsCA n.519+3199_519+3200delinsCA c.*607+25_*607+26delinsCA (n.*607+25_*607+26delinsCA) c.444+25_444+26delinsCA (n.444+25_444+26delinsCA) c.855+25_855+26delinsCA (n.855+25_855+26delinsCA) | |
| 9 | g.122381773del | CA859701142 | PTGS1 | c.762+26del (n.762+26del) c.435+26del (n.435+26del) c.453+26del (n.453+26del) c.687+26del (n.687+26del) c.618+26del (n.618+26del) n.856+26del n.519+3200del c.*607+26del (n.*607+26del) c.444+26del (n.444+26del) c.855+26del (n.855+26del) | dbSNP gnomAD v4 |
| 9 | g.122381773A>G | CA2785850565 | PTGS1 | c.762+26A>G (n.762+26A>G) c.435+26A>G (n.435+26A>G) c.453+26A>G (n.453+26A>G) c.687+26A>G (n.687+26A>G) c.618+26A>G (n.618+26A>G) n.856+26A>G n.519+3200A>G c.*607+26A>G (n.*607+26A>G) c.444+26A>G (n.444+26A>G) c.855+26A>G (n.855+26A>G) | |
| 9 | g.122381774G>A | CA1128881787 | PTGS1 | c.762+27G>A (n.762+27G>A) c.435+27G>A (n.435+27G>A) c.453+27G>A (n.453+27G>A) c.687+27G>A (n.687+27G>A) c.618+27G>A (n.618+27G>A) n.856+27G>A n.519+3201G>A c.*607+27G>A (n.*607+27G>A) c.444+27G>A (n.444+27G>A) c.855+27G>A (n.855+27G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.122381774G= | CA1877496723 | PTGS1 | c.762+27G= (n.762+27G=) c.435+27G= (n.435+27G=) c.453+27G= (n.453+27G=) c.687+27G= (n.687+27G=) c.618+27G= (n.618+27G=) n.856+27G= n.519+3201G= c.*607+27G= (n.*607+27G=) c.444+27G= (n.444+27G=) c.855+27G= (n.855+27G=) | |
| 9 | g.122381776G>A | CA1877496725 | PTGS1 | c.762+29G>A (n.762+29G>A) c.435+29G>A (n.435+29G>A) c.453+29G>A (n.453+29G>A) c.687+29G>A (n.687+29G>A) c.618+29G>A (n.618+29G>A) n.856+29G>A n.519+3203G>A c.*607+29G>A (n.*607+29G>A) c.444+29G>A (n.444+29G>A) c.855+29G>A (n.855+29G>A) | dbSNP |
| 9 | g.122381776G= | CA1877496724 | PTGS1 | c.762+29G= (n.762+29G=) c.435+29G= (n.435+29G=) c.453+29G= (n.453+29G=) c.687+29G= (n.687+29G=) c.618+29G= (n.618+29G=) n.856+29G= n.519+3203G= c.*607+29G= (n.*607+29G=) c.444+29G= (n.444+29G=) c.855+29G= (n.855+29G=) | |
| 9 | g.122381777G>A | CA590503374 | PTGS1 | c.762+30G>A (n.762+30G>A) c.435+30G>A (n.435+30G>A) c.453+30G>A (n.453+30G>A) c.687+30G>A (n.687+30G>A) c.618+30G>A (n.618+30G>A) n.856+30G>A n.519+3204G>A c.*607+30G>A (n.*607+30G>A) c.444+30G>A (n.444+30G>A) c.855+30G>A (n.855+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381777G>C | CA2691551940 | PTGS1 | c.762+30G>C (n.762+30G>C) c.435+30G>C (n.435+30G>C) c.453+30G>C (n.453+30G>C) c.687+30G>C (n.687+30G>C) c.618+30G>C (n.618+30G>C) n.856+30G>C n.519+3204G>C c.*607+30G>C (n.*607+30G>C) c.444+30G>C (n.444+30G>C) c.855+30G>C (n.855+30G>C) | gnomAD v4 |
| 9 | g.122381777G= | CA1877496726 | PTGS1 | c.762+30G= (n.762+30G=) c.435+30G= (n.435+30G=) c.453+30G= (n.453+30G=) c.687+30G= (n.687+30G=) c.618+30G= (n.618+30G=) n.856+30G= n.519+3204G= c.*607+30G= (n.*607+30G=) c.444+30G= (n.444+30G=) c.855+30G= (n.855+30G=) | |
| 9 | g.122381777G>T | CA2691551939 | PTGS1 | c.762+30G>T (n.762+30G>T) c.435+30G>T (n.435+30G>T) c.453+30G>T (n.453+30G>T) c.687+30G>T (n.687+30G>T) c.618+30G>T (n.618+30G>T) n.856+30G>T n.519+3204G>T c.*607+30G>T (n.*607+30G>T) c.444+30G>T (n.444+30G>T) c.855+30G>T (n.855+30G>T) | gnomAD v4 |
| 9 | g.122381778G>A | CA1877496728 | PTGS1 | c.762+31G>A (n.762+31G>A) c.435+31G>A (n.435+31G>A) c.453+31G>A (n.453+31G>A) c.687+31G>A (n.687+31G>A) c.618+31G>A (n.618+31G>A) n.856+31G>A n.519+3205G>A c.*607+31G>A (n.*607+31G>A) c.444+31G>A (n.444+31G>A) c.855+31G>A (n.855+31G>A) | dbSNP |
| 9 | g.122381778G= | CA1877496727 | PTGS1 | c.762+31G= (n.762+31G=) c.435+31G= (n.435+31G=) c.453+31G= (n.453+31G=) c.687+31G= (n.687+31G=) c.618+31G= (n.618+31G=) n.856+31G= n.519+3205G= c.*607+31G= (n.*607+31G=) c.444+31G= (n.444+31G=) c.855+31G= (n.855+31G=) | |
| 9 | g.122381778G>T | CA2691551941 | PTGS1 | c.762+31G>T (n.762+31G>T) c.435+31G>T (n.435+31G>T) c.453+31G>T (n.453+31G>T) c.687+31G>T (n.687+31G>T) c.618+31G>T (n.618+31G>T) n.856+31G>T n.519+3205G>T c.*607+31G>T (n.*607+31G>T) c.444+31G>T (n.444+31G>T) c.855+31G>T (n.855+31G>T) | gnomAD v4 |
| 9 | g.122381779A>G | CA2691551942 | PTGS1 | c.762+32A>G (n.762+32A>G) c.435+32A>G (n.435+32A>G) c.453+32A>G (n.453+32A>G) c.687+32A>G (n.687+32A>G) c.618+32A>G (n.618+32A>G) n.856+32A>G n.519+3206A>G c.*607+32A>G (n.*607+32A>G) c.444+32A>G (n.444+32A>G) c.855+32A>G (n.855+32A>G) | gnomAD v4 |
| 9 | g.122381780G>T | CA2691551944 | PTGS1 | c.762+33G>T (n.762+33G>T) c.435+33G>T (n.435+33G>T) c.453+33G>T (n.453+33G>T) c.687+33G>T (n.687+33G>T) c.618+33G>T (n.618+33G>T) n.856+33G>T n.519+3207G>T c.*607+33G>T (n.*607+33G>T) c.444+33G>T (n.444+33G>T) c.855+33G>T (n.855+33G>T) | gnomAD v4 |
| 9 | g.122381782_122381783del | CA2691551943 | PTGS1 | c.762+35_762+36del (n.762+35_762+36del) c.435+35_435+36del (n.435+35_435+36del) c.453+35_453+36del (n.453+35_453+36del) c.687+35_687+36del (n.687+35_687+36del) c.618+35_618+36del (n.618+35_618+36del) n.856+35_856+36del n.519+3209_519+3210del c.*607+35_*607+36del (n.*607+35_*607+36del) c.444+35_444+36del (n.444+35_444+36del) c.855+35_855+36del (n.855+35_855+36del) | gnomAD v4 |
| 9 | g.122381782G>A | CA199479261 | PTGS1 | c.762+35G>A (n.762+35G>A) c.435+35G>A (n.435+35G>A) c.453+35G>A (n.453+35G>A) c.687+35G>A (n.687+35G>A) c.618+35G>A (n.618+35G>A) n.856+35G>A n.519+3209G>A c.*607+35G>A (n.*607+35G>A) c.444+35G>A (n.444+35G>A) c.855+35G>A (n.855+35G>A) | dbSNP |
| 9 | g.122381782G= | CA1877496729 | PTGS1 | c.762+35G= (n.762+35G=) c.435+35G= (n.435+35G=) c.453+35G= (n.453+35G=) c.687+35G= (n.687+35G=) c.618+35G= (n.618+35G=) n.856+35G= n.519+3209G= c.*607+35G= (n.*607+35G=) c.444+35G= (n.444+35G=) c.855+35G= (n.855+35G=) | |
| 9 | g.122381782G>T | CA2508345769 | PTGS1 | c.762+35G>T (n.762+35G>T) c.435+35G>T (n.435+35G>T) c.453+35G>T (n.453+35G>T) c.687+35G>T (n.687+35G>T) c.618+35G>T (n.618+35G>T) n.856+35G>T n.519+3209G>T c.*607+35G>T (n.*607+35G>T) c.444+35G>T (n.444+35G>T) c.855+35G>T (n.855+35G>T) | gnomAD v4 |
| 9 | g.122381783G>A | CA590503375 | PTGS1 | c.762+36G>A (n.762+36G>A) c.435+36G>A (n.435+36G>A) c.453+36G>A (n.453+36G>A) c.687+36G>A (n.687+36G>A) c.618+36G>A (n.618+36G>A) n.856+36G>A n.519+3210G>A c.*607+36G>A (n.*607+36G>A) c.444+36G>A (n.444+36G>A) c.855+36G>A (n.855+36G>A) | dbSNP gnomAD v2 |
| 9 | g.122381783G= | CA1877496730 | PTGS1 | c.762+36G= (n.762+36G=) c.435+36G= (n.435+36G=) c.453+36G= (n.453+36G=) c.687+36G= (n.687+36G=) c.618+36G= (n.618+36G=) n.856+36G= n.519+3210G= c.*607+36G= (n.*607+36G=) c.444+36G= (n.444+36G=) c.855+36G= (n.855+36G=) | |
| 9 | g.122381783G>T | CA2691551945 | PTGS1 | c.762+36G>T (n.762+36G>T) c.435+36G>T (n.435+36G>T) c.453+36G>T (n.453+36G>T) c.687+36G>T (n.687+36G>T) c.618+36G>T (n.618+36G>T) n.856+36G>T n.519+3210G>T c.*607+36G>T (n.*607+36G>T) c.444+36G>T (n.444+36G>T) c.855+36G>T (n.855+36G>T) | gnomAD v4 |
| 9 | g.122381784T>A | CA199479268 | PTGS1 | c.762+37T>A (n.762+37T>A) c.435+37T>A (n.435+37T>A) c.453+37T>A (n.453+37T>A) c.687+37T>A (n.687+37T>A) c.618+37T>A (n.618+37T>A) n.856+37T>A n.519+3211T>A c.*607+37T>A (n.*607+37T>A) c.444+37T>A (n.444+37T>A) c.855+37T>A (n.855+37T>A) | dbSNP gnomAD v4 |
| 9 | g.122381784T>C | CA2691551946 | PTGS1 | c.762+37T>C (n.762+37T>C) c.435+37T>C (n.435+37T>C) c.453+37T>C (n.453+37T>C) c.687+37T>C (n.687+37T>C) c.618+37T>C (n.618+37T>C) n.856+37T>C n.519+3211T>C c.*607+37T>C (n.*607+37T>C) c.444+37T>C (n.444+37T>C) c.855+37T>C (n.855+37T>C) | gnomAD v4 |
| 9 | g.122381784T= | CA1877496731 | PTGS1 | c.762+37T= (n.762+37T=) c.435+37T= (n.435+37T=) c.453+37T= (n.453+37T=) c.687+37T= (n.687+37T=) c.618+37T= (n.618+37T=) n.856+37T= n.519+3211T= c.*607+37T= (n.*607+37T=) c.444+37T= (n.444+37T=) c.855+37T= (n.855+37T=) | |
| 9 | g.122381785C>A | CA2691551947 | PTGS1 | c.762+38C>A (n.762+38C>A) c.435+38C>A (n.435+38C>A) c.453+38C>A (n.453+38C>A) c.687+38C>A (n.687+38C>A) c.618+38C>A (n.618+38C>A) n.856+38C>A n.519+3212C>A c.*607+38C>A (n.*607+38C>A) c.444+38C>A (n.444+38C>A) c.855+38C>A (n.855+38C>A) | gnomAD v4 |
| 9 | g.122381786T>C | CA590503376 | PTGS1 | c.762+39T>C (n.762+39T>C) c.435+39T>C (n.435+39T>C) c.453+39T>C (n.453+39T>C) c.687+39T>C (n.687+39T>C) c.618+39T>C (n.618+39T>C) n.856+39T>C n.519+3213T>C c.*607+39T>C (n.*607+39T>C) c.444+39T>C (n.444+39T>C) c.855+39T>C (n.855+39T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381786T= | CA1877496732 | PTGS1 | c.762+39T= (n.762+39T=) c.435+39T= (n.435+39T=) c.453+39T= (n.453+39T=) c.687+39T= (n.687+39T=) c.618+39T= (n.618+39T=) n.856+39T= n.519+3213T= c.*607+39T= (n.*607+39T=) c.444+39T= (n.444+39T=) c.855+39T= (n.855+39T=) | |
| 9 | g.122381787C>T | CA2691551948 | PTGS1 | c.762+40C>T (n.762+40C>T) c.435+40C>T (n.435+40C>T) c.453+40C>T (n.453+40C>T) c.687+40C>T (n.687+40C>T) c.618+40C>T (n.618+40C>T) n.856+40C>T n.519+3214C>T c.*607+40C>T (n.*607+40C>T) c.444+40C>T (n.444+40C>T) c.855+40C>T (n.855+40C>T) | gnomAD v4 |
| 9 | g.122381789del | CA2720581025 | PTGS1 | c.762+42del (n.762+42del) c.435+42del (n.435+42del) c.453+42del (n.453+42del) c.687+42del (n.687+42del) c.618+42del (n.618+42del) n.856+42del n.519+3216del c.*607+42del (n.*607+42del) c.444+42del (n.444+42del) c.855+42del (n.855+42del) | dbSNP |
| 9 | g.122381787_122381788insT | CA2691551949 | PTGS1 | c.762+40_762+41insT (n.762+40_762+41insT) c.435+40_435+41insT (n.435+40_435+41insT) c.453+40_453+41insT (n.453+40_453+41insT) c.687+40_687+41insT (n.687+40_687+41insT) c.618+40_618+41insT (n.618+40_618+41insT) n.856+40_856+41insT n.519+3214_519+3215insT c.*607+40_*607+41insT (n.*607+40_*607+41insT) c.444+40_444+41insT (n.444+40_444+41insT) c.855+40_855+41insT (n.855+40_855+41insT) | gnomAD v4 |
| 9 | g.122381788C= | CA1877496733 | PTGS1 | c.762+41C= (n.762+41C=) c.435+41C= (n.435+41C=) c.453+41C= (n.453+41C=) c.687+41C= (n.687+41C=) c.618+41C= (n.618+41C=) n.856+41C= n.519+3215C= c.*607+41C= (n.*607+41C=) c.444+41C= (n.444+41C=) c.855+41C= (n.855+41C=) | |
| 9 | g.122381788C>G | CA590503377 | PTGS1 | c.762+41C>G (n.762+41C>G) c.435+41C>G (n.435+41C>G) c.453+41C>G (n.453+41C>G) c.687+41C>G (n.687+41C>G) c.618+41C>G (n.618+41C>G) n.856+41C>G n.519+3215C>G c.*607+41C>G (n.*607+41C>G) c.444+41C>G (n.444+41C>G) c.855+41C>G (n.855+41C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381788C>T | CA590503378 | PTGS1 | c.762+41C>T (n.762+41C>T) c.435+41C>T (n.435+41C>T) c.453+41C>T (n.453+41C>T) c.687+41C>T (n.687+41C>T) c.618+41C>T (n.618+41C>T) n.856+41C>T n.519+3215C>T c.*607+41C>T (n.*607+41C>T) c.444+41C>T (n.444+41C>T) c.855+41C>T (n.855+41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381789C>A | CA1128881791 | PTGS1 | c.762+42C>A (n.762+42C>A) c.435+42C>A (n.435+42C>A) c.453+42C>A (n.453+42C>A) c.687+42C>A (n.687+42C>A) c.618+42C>A (n.618+42C>A) n.856+42C>A n.519+3216C>A c.*607+42C>A (n.*607+42C>A) c.444+42C>A (n.444+42C>A) c.855+42C>A (n.855+42C>A) | gnomAD v3 gnomAD v4 |
| 9 | g.122381790A= | CA1877496734 | PTGS1 | c.762+43A= (n.762+43A=) c.435+43A= (n.435+43A=) c.453+43A= (n.453+43A=) c.687+43A= (n.687+43A=) c.618+43A= (n.618+43A=) n.856+43A= n.519+3217A= c.*607+43A= (n.*607+43A=) c.444+43A= (n.444+43A=) c.855+43A= (n.855+43A=) | |
| 9 | g.122381790A>C | CA2579443422 | PTGS1 | c.762+43A>C (n.762+43A>C) c.435+43A>C (n.435+43A>C) c.453+43A>C (n.453+43A>C) c.687+43A>C (n.687+43A>C) c.618+43A>C (n.618+43A>C) n.856+43A>C n.519+3217A>C c.*607+43A>C (n.*607+43A>C) c.444+43A>C (n.444+43A>C) c.855+43A>C (n.855+43A>C) | |
| 9 | g.122381790A>G | CA5224916 | PTGS1 | c.762+43A>G (n.762+43A>G) c.435+43A>G (n.435+43A>G) c.453+43A>G (n.453+43A>G) c.687+43A>G (n.687+43A>G) c.618+43A>G (n.618+43A>G) n.856+43A>G n.519+3217A>G c.*607+43A>G (n.*607+43A>G) c.444+43A>G (n.444+43A>G) c.855+43A>G (n.855+43A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381791T>C | CA2691551950 | PTGS1 | c.762+44T>C (n.762+44T>C) c.435+44T>C (n.435+44T>C) c.453+44T>C (n.453+44T>C) c.687+44T>C (n.687+44T>C) c.618+44T>C (n.618+44T>C) n.856+44T>C n.519+3218T>C c.*607+44T>C (n.*607+44T>C) c.444+44T>C (n.444+44T>C) c.855+44T>C (n.855+44T>C) | gnomAD v4 |
| 9 | g.122381792G= | CA1877496735 | PTGS1 | c.762+45G= (n.762+45G=) c.435+45G= (n.435+45G=) c.453+45G= (n.453+45G=) c.687+45G= (n.687+45G=) c.618+45G= (n.618+45G=) n.856+45G= n.519+3219G= c.*607+45G= (n.*607+45G=) c.444+45G= (n.444+45G=) c.855+45G= (n.855+45G=) | |
| 9 | g.122381792G>T | CA5224917 | PTGS1 | c.762+45G>T (n.762+45G>T) c.435+45G>T (n.435+45G>T) c.453+45G>T (n.453+45G>T) c.687+45G>T (n.687+45G>T) c.618+45G>T (n.618+45G>T) n.856+45G>T n.519+3219G>T c.*607+45G>T (n.*607+45G>T) c.444+45G>T (n.444+45G>T) c.855+45G>T (n.855+45G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381793G>A | CA5224918 | PTGS1 | c.762+46G>A (n.762+46G>A) c.435+46G>A (n.435+46G>A) c.453+46G>A (n.453+46G>A) c.687+46G>A (n.687+46G>A) c.618+46G>A (n.618+46G>A) n.856+46G>A n.519+3220G>A c.*607+46G>A (n.*607+46G>A) c.444+46G>A (n.444+46G>A) c.855+46G>A (n.855+46G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381793G>C | CA2579443423 | PTGS1 | c.762+46G>C (n.762+46G>C) c.435+46G>C (n.435+46G>C) c.453+46G>C (n.453+46G>C) c.687+46G>C (n.687+46G>C) c.618+46G>C (n.618+46G>C) n.856+46G>C n.519+3220G>C c.*607+46G>C (n.*607+46G>C) c.444+46G>C (n.444+46G>C) c.855+46G>C (n.855+46G>C) | |
| 9 | g.122381793G= | CA1877496736 | PTGS1 | c.762+46G= (n.762+46G=) c.435+46G= (n.435+46G=) c.453+46G= (n.453+46G=) c.687+46G= (n.687+46G=) c.618+46G= (n.618+46G=) n.856+46G= n.519+3220G= c.*607+46G= (n.*607+46G=) c.444+46G= (n.444+46G=) c.855+46G= (n.855+46G=) | |
| 9 | g.122381794del | CA2691551951 | PTGS1 | c.762+47del (n.762+47del) c.435+47del (n.435+47del) c.453+47del (n.453+47del) c.687+47del (n.687+47del) c.618+47del (n.618+47del) n.856+47del n.519+3221del c.*607+47del (n.*607+47del) c.444+47del (n.444+47del) c.855+47del (n.855+47del) | gnomAD v4 |
| 9 | g.122381794T>C | CA2691551952 | PTGS1 | c.762+47T>C (n.762+47T>C) c.435+47T>C (n.435+47T>C) c.453+47T>C (n.453+47T>C) c.687+47T>C (n.687+47T>C) c.618+47T>C (n.618+47T>C) n.856+47T>C n.519+3221T>C c.*607+47T>C (n.*607+47T>C) c.444+47T>C (n.444+47T>C) c.855+47T>C (n.855+47T>C) | gnomAD v4 |