| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123325376G>A | CA2577281 | ADCY5 | c.711C>T (p.Arg237=) c.999C>T (p.Arg333=) c.2034C>T (p.Arg678=) n.293C>T c.984C>T (p.Arg328=) c.933C>T (p.Arg311=) c.1035C>T (p.Arg345=) c.945C>T (p.Arg315=) c.936C>T (p.Arg312=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123325376G>C | CA435293352 | ADCY5 | c.711C>G (p.Arg237=) c.999C>G (p.Arg333=) c.2034C>G (p.Arg678=) n.293C>G c.984C>G (p.Arg328=) c.933C>G (p.Arg311=) c.1035C>G (p.Arg345=) c.945C>G (p.Arg315=) c.936C>G (p.Arg312=) | |
| 3 | g.123325376G= | CA1398346249 | ADCY5 | c.711C= (p.Arg237=) c.999C= (p.Arg333=) c.2034C= (p.Arg678=) n.293C= c.984C= (p.Arg328=) c.933C= (p.Arg311=) c.1035C= (p.Arg345=) c.945C= (p.Arg315=) c.936C= (p.Arg312=) | |
| 3 | g.123325376G>T | CA435293353 | ADCY5 | c.711C>A (p.Arg237=) c.999C>A (p.Arg333=) c.2034C>A (p.Arg678=) n.293C>A c.984C>A (p.Arg328=) c.933C>A (p.Arg311=) c.1035C>A (p.Arg345=) c.945C>A (p.Arg315=) c.936C>A (p.Arg312=) | |
| 3 | g.123325377C>A | CA354218453 | ADCY5 | c.710G>T (p.Arg237Leu) c.998G>T (p.Arg333Leu) c.2033G>T (p.Arg678Leu) n.292G>T c.983G>T (p.Arg328Leu) c.932G>T (p.Arg311Leu) c.1034G>T (p.Arg345Leu) c.944G>T (p.Arg315Leu) c.935G>T (p.Arg312Leu) | gnomAD v4 |
| 3 | g.123325377C= | CA1398346250 | ADCY5 | c.710G= (p.Arg237=) c.998G= (p.Arg333=) c.2033G= (p.Arg678=) n.292G= c.983G= (p.Arg328=) c.932G= (p.Arg311=) c.1034G= (p.Arg345=) c.944G= (p.Arg315=) c.935G= (p.Arg312=) | |
| 3 | g.123325377C>G | CA354218454 | ADCY5 | c.710G>C (p.Arg237Pro) c.998G>C (p.Arg333Pro) c.2033G>C (p.Arg678Pro) n.292G>C c.983G>C (p.Arg328Pro) c.932G>C (p.Arg311Pro) c.1034G>C (p.Arg345Pro) c.944G>C (p.Arg315Pro) c.935G>C (p.Arg312Pro) | |
| 3 | g.123325377C>T | CA2577282 | ADCY5 | c.710G>A (p.Arg237His) c.998G>A (p.Arg333His) c.2033G>A (p.Arg678His) n.292G>A c.983G>A (p.Arg328His) c.932G>A (p.Arg311His) c.1034G>A (p.Arg345His) c.944G>A (p.Arg315His) c.935G>A (p.Arg312His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325378G>A | CA2577283 | ADCY5 | c.709C>T (p.Arg237Cys) c.997C>T (p.Arg333Cys) c.2032C>T (p.Arg678Cys) n.291C>T c.982C>T (p.Arg328Cys) c.931C>T (p.Arg311Cys) c.1033C>T (p.Arg345Cys) c.943C>T (p.Arg315Cys) c.934C>T (p.Arg312Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325378G>C | CA354218455 | ADCY5 | c.709C>G (p.Arg237Gly) c.997C>G (p.Arg333Gly) c.2032C>G (p.Arg678Gly) n.291C>G c.982C>G (p.Arg328Gly) c.931C>G (p.Arg311Gly) c.1033C>G (p.Arg345Gly) c.943C>G (p.Arg315Gly) c.934C>G (p.Arg312Gly) | |
| 3 | g.123325378G= | CA1398346251 | ADCY5 | c.709C= (p.Arg237=) c.997C= (p.Arg333=) c.2032C= (p.Arg678=) n.291C= c.982C= (p.Arg328=) c.931C= (p.Arg311=) c.1033C= (p.Arg345=) c.943C= (p.Arg315=) c.934C= (p.Arg312=) | |
| 3 | g.123325378G>T | CA354218456 | ADCY5 | c.709C>A (p.Arg237Ser) c.997C>A (p.Arg333Ser) c.2032C>A (p.Arg678Ser) n.291C>A c.982C>A (p.Arg328Ser) c.931C>A (p.Arg311Ser) c.1033C>A (p.Arg345Ser) c.943C>A (p.Arg315Ser) c.934C>A (p.Arg312Ser) | |
| 3 | g.123325379C>A | CA354218457 | ADCY5 | c.708G>T (p.Glu236Asp) c.996G>T (p.Glu332Asp) c.2031G>T (p.Glu677Asp) n.290G>T c.981G>T (p.Glu327Asp) c.930G>T (p.Glu310Asp) c.1032G>T (p.Glu344Asp) c.942G>T (p.Glu314Asp) c.933G>T (p.Glu311Asp) | |
| 3 | g.123325379C= | CA1398346252 | ADCY5 | c.708G= (p.Glu236=) c.996G= (p.Glu332=) c.2031G= (p.Glu677=) n.290G= c.981G= (p.Glu327=) c.930G= (p.Glu310=) c.1032G= (p.Glu344=) c.942G= (p.Glu314=) c.933G= (p.Glu311=) | |
| 3 | g.123325379C>G | CA354218458 | ADCY5 | c.708G>C (p.Glu236Asp) c.996G>C (p.Glu332Asp) c.2031G>C (p.Glu677Asp) n.290G>C c.981G>C (p.Glu327Asp) c.930G>C (p.Glu310Asp) c.1032G>C (p.Glu344Asp) c.942G>C (p.Glu314Asp) c.933G>C (p.Glu311Asp) | |
| 3 | g.123325379C>T | CA435293354 | ADCY5 | c.708G>A (p.Glu236=) c.996G>A (p.Glu332=) c.2031G>A (p.Glu677=) n.290G>A c.981G>A (p.Glu327=) c.930G>A (p.Glu310=) c.1032G>A (p.Glu344=) c.942G>A (p.Glu314=) c.933G>A (p.Glu311=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123325380T>A | CA354218461 | ADCY5 | c.707A>T (p.Glu236Val) c.995A>T (p.Glu332Val) c.2030A>T (p.Glu677Val) n.289A>T c.980A>T (p.Glu327Val) c.929A>T (p.Glu310Val) c.1031A>T (p.Glu344Val) c.941A>T (p.Glu314Val) c.932A>T (p.Glu311Val) | |
| 3 | g.123325380T>C | CA354218460 | ADCY5 | c.707A>G (p.Glu236Gly) c.995A>G (p.Glu332Gly) c.2030A>G (p.Glu677Gly) n.289A>G c.980A>G (p.Glu327Gly) c.929A>G (p.Glu310Gly) c.1031A>G (p.Glu344Gly) c.941A>G (p.Glu314Gly) c.932A>G (p.Glu311Gly) | |
| 3 | g.123325380T>G | CA354218459 | ADCY5 | c.707A>C (p.Glu236Ala) c.995A>C (p.Glu332Ala) c.2030A>C (p.Glu677Ala) n.289A>C c.980A>C (p.Glu327Ala) c.929A>C (p.Glu310Ala) c.1031A>C (p.Glu344Ala) c.941A>C (p.Glu314Ala) c.932A>C (p.Glu311Ala) | |
| 3 | g.123325381C>A | CA354218462 | ADCY5 | c.706G>T (p.Glu236Ter) c.994G>T (p.Glu332Ter) c.2029G>T (p.Glu677Ter) n.288G>T c.979G>T (p.Glu327Ter) c.928G>T (p.Glu310Ter) c.1030G>T (p.Glu344Ter) c.940G>T (p.Glu314Ter) c.931G>T (p.Glu311Ter) | dbSNP |
| 3 | g.123325381C= | CA1398346253 | ADCY5 | c.706G= (p.Glu236=) c.994G= (p.Glu332=) c.2029G= (p.Glu677=) n.288G= c.979G= (p.Glu327=) c.928G= (p.Glu310=) c.1030G= (p.Glu344=) c.940G= (p.Glu314=) c.931G= (p.Glu311=) | |
| 3 | g.123325381C>G | CA354218464 | ADCY5 | c.706G>C (p.Glu236Gln) c.994G>C (p.Glu332Gln) c.2029G>C (p.Glu677Gln) n.288G>C c.979G>C (p.Glu327Gln) c.928G>C (p.Glu310Gln) c.1030G>C (p.Glu344Gln) c.940G>C (p.Glu314Gln) c.931G>C (p.Glu311Gln) | |
| 3 | g.123325381C>T | CA354218463 | ADCY5 | c.706G>A (p.Glu236Lys) c.994G>A (p.Glu332Lys) c.2029G>A (p.Glu677Lys) n.288G>A c.979G>A (p.Glu327Lys) c.928G>A (p.Glu310Lys) c.1030G>A (p.Glu344Lys) c.940G>A (p.Glu314Lys) c.931G>A (p.Glu311Lys) | dbSNP |
| 3 | g.123325382A>C | CA435293355 | ADCY5 | c.705T>G (p.Ala235=) c.993T>G (p.Ala331=) c.2028T>G (p.Ala676=) n.287T>G c.978T>G (p.Ala326=) c.927T>G (p.Ala309=) c.1029T>G (p.Ala343=) c.939T>G (p.Ala313=) c.930T>G (p.Ala310=) | |
| 3 | g.123325382A>G | CA435293357 | ADCY5 | c.705T>C (p.Ala235=) c.993T>C (p.Ala331=) c.2028T>C (p.Ala676=) n.287T>C c.978T>C (p.Ala326=) c.927T>C (p.Ala309=) c.1029T>C (p.Ala343=) c.939T>C (p.Ala313=) c.930T>C (p.Ala310=) | |
| 3 | g.123325382A>T | CA435293356 | ADCY5 | c.705T>A (p.Ala235=) c.993T>A (p.Ala331=) c.2028T>A (p.Ala676=) n.287T>A c.978T>A (p.Ala326=) c.927T>A (p.Ala309=) c.1029T>A (p.Ala343=) c.939T>A (p.Ala313=) c.930T>A (p.Ala310=) | |
| 3 | g.123325383G>A | CA354218465 | ADCY5 | c.704C>T (p.Ala235Val) c.992C>T (p.Ala331Val) c.2027C>T (p.Ala676Val) n.286C>T c.977C>T (p.Ala326Val) c.926C>T (p.Ala309Val) c.1028C>T (p.Ala343Val) c.938C>T (p.Ala313Val) c.929C>T (p.Ala310Val) | COSMIC |
| 3 | g.123325383G>C | CA354218466 | ADCY5 | c.704C>G (p.Ala235Gly) c.992C>G (p.Ala331Gly) c.2027C>G (p.Ala676Gly) n.286C>G c.977C>G (p.Ala326Gly) c.926C>G (p.Ala309Gly) c.1028C>G (p.Ala343Gly) c.938C>G (p.Ala313Gly) c.929C>G (p.Ala310Gly) | |
| 3 | g.123325383G>T | CA354218467 | ADCY5 | c.704C>A (p.Ala235Asp) c.992C>A (p.Ala331Asp) c.2027C>A (p.Ala676Asp) n.286C>A c.977C>A (p.Ala326Asp) c.926C>A (p.Ala309Asp) c.1028C>A (p.Ala343Asp) c.938C>A (p.Ala313Asp) c.929C>A (p.Ala310Asp) | |
| 3 | g.123325383_123325384delinsGC | CA1398346254 | ADCY5 | c.703_704delinsGC (p.Ala235=) c.991_992delinsGC (p.Ala331=) c.2026_2027delinsGC (p.Ala676=) n.285_286delinsGC c.976_977delinsGC (p.Ala326=) c.925_926delinsGC (p.Ala309=) c.1027_1028delinsGC (p.Ala343=) c.937_938delinsGC (p.Ala313=) c.928_929delinsGC (p.Ala310=) | |
| 3 | g.123325384C>A | CA354218468 | ADCY5 | c.703G>T (p.Ala235Ser) c.991G>T (p.Ala331Ser) c.2026G>T (p.Ala676Ser) n.285G>T c.976G>T (p.Ala326Ser) c.925G>T (p.Ala309Ser) c.1027G>T (p.Ala343Ser) c.937G>T (p.Ala313Ser) c.928G>T (p.Ala310Ser) | gnomAD v4 COSMIC |
| 3 | g.123325384C= | CA1398346255 | ADCY5 | c.703G= (p.Ala235=) c.991G= (p.Ala331=) c.2026G= (p.Ala676=) n.285G= c.976G= (p.Ala326=) c.925G= (p.Ala309=) c.1027G= (p.Ala343=) c.937G= (p.Ala313=) c.928G= (p.Ala310=) | |
| 3 | g.123325384C>G | CA354218469 | ADCY5 | c.703G>C (p.Ala235Pro) c.991G>C (p.Ala331Pro) c.2026G>C (p.Ala676Pro) n.285G>C c.976G>C (p.Ala326Pro) c.925G>C (p.Ala309Pro) c.1027G>C (p.Ala343Pro) c.937G>C (p.Ala313Pro) c.928G>C (p.Ala310Pro) | gnomAD v4 |
| 3 | g.123325384C>T | CA354218470 | ADCY5 | c.703G>A (p.Ala235Thr) c.991G>A (p.Ala331Thr) c.2026G>A (p.Ala676Thr) n.285G>A c.976G>A (p.Ala326Thr) c.925G>A (p.Ala309Thr) c.1027G>A (p.Ala343Thr) c.937G>A (p.Ala313Thr) c.928G>A (p.Ala310Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123325389dup | CA16617820 | ADCY5 | c.703dup (p.Ala235GlyfsTer2) c.991dup (p.Ala331GlyfsTer2) c.2026dup (p.Ala676GlyfsTer2) n.285dup c.976dup (p.Ala326GlyfsTer2) c.925dup (p.Ala309GlyfsTer2) c.1027dup (p.Ala343GlyfsTer2) c.937dup (p.Ala313GlyfsTer2) c.928dup (p.Ala310GlyfsTer2) | ClinVar dbSNP |
| 3 | g.123325389del | CA545686503 | ADCY5 | c.703del (p.Ala235LeufsTer18) c.991del (p.Ala331LeufsTer18) c.2026del (p.Ala676LeufsTer18) n.285del c.976del (p.Ala326LeufsTer18) c.925del (p.Ala309LeufsTer18) c.1027del (p.Ala343LeufsTer18) c.937del (p.Ala313LeufsTer18) c.928del (p.Ala310LeufsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123325385C>A | CA435293358 | ADCY5 | c.702G>T (p.Gly234=) c.990G>T (p.Gly330=) c.2025G>T (p.Gly675=) n.284G>T c.975G>T (p.Gly325=) c.924G>T (p.Gly308=) c.1026G>T (p.Gly342=) c.936G>T (p.Gly312=) c.927G>T (p.Gly309=) | gnomAD v4 |
| 3 | g.123325385C= | CA1398346256 | ADCY5 | c.702G= (p.Gly234=) c.990G= (p.Gly330=) c.2025G= (p.Gly675=) n.284G= c.975G= (p.Gly325=) c.924G= (p.Gly308=) c.1026G= (p.Gly342=) c.936G= (p.Gly312=) c.927G= (p.Gly309=) | |
| 3 | g.123325385C>G | CA435293359 | ADCY5 | c.702G>C (p.Gly234=) c.990G>C (p.Gly330=) c.2025G>C (p.Gly675=) n.284G>C c.975G>C (p.Gly325=) c.924G>C (p.Gly308=) c.1026G>C (p.Gly342=) c.936G>C (p.Gly312=) c.927G>C (p.Gly309=) | dbSNP gnomAD v4 |
| 3 | g.123325385C>T | CA435293360 | ADCY5 | c.702G>A (p.Gly234=) c.990G>A (p.Gly330=) c.2025G>A (p.Gly675=) n.284G>A c.975G>A (p.Gly325=) c.924G>A (p.Gly308=) c.1026G>A (p.Gly342=) c.936G>A (p.Gly312=) c.927G>A (p.Gly309=) | gnomAD v4 |
| 3 | g.123325386C>A | CA354218473 | ADCY5 | c.701G>T (p.Gly234Val) c.989G>T (p.Gly330Val) c.2024G>T (p.Gly675Val) n.283G>T c.974G>T (p.Gly325Val) c.923G>T (p.Gly308Val) c.1025G>T (p.Gly342Val) c.935G>T (p.Gly312Val) c.926G>T (p.Gly309Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123325386C= | CA1398346257 | ADCY5 | c.701G= (p.Gly234=) c.989G= (p.Gly330=) c.2024G= (p.Gly675=) n.283G= c.974G= (p.Gly325=) c.923G= (p.Gly308=) c.1025G= (p.Gly342=) c.935G= (p.Gly312=) c.926G= (p.Gly309=) | |
| 3 | g.123325386C>G | CA354218472 | ADCY5 | c.701G>C (p.Gly234Ala) c.989G>C (p.Gly330Ala) c.2024G>C (p.Gly675Ala) n.283G>C c.974G>C (p.Gly325Ala) c.923G>C (p.Gly308Ala) c.1025G>C (p.Gly342Ala) c.935G>C (p.Gly312Ala) c.926G>C (p.Gly309Ala) | |
| 3 | g.123325386C>T | CA354218471 | ADCY5 | c.701G>A (p.Gly234Glu) c.989G>A (p.Gly330Glu) c.2024G>A (p.Gly675Glu) n.283G>A c.974G>A (p.Gly325Glu) c.923G>A (p.Gly308Glu) c.1025G>A (p.Gly342Glu) c.935G>A (p.Gly312Glu) c.926G>A (p.Gly309Glu) | |
| 3 | g.123325387C>A | CA354218474 | ADCY5 | c.700G>T (p.Gly234Trp) c.988G>T (p.Gly330Trp) c.2023G>T (p.Gly675Trp) n.282G>T c.973G>T (p.Gly325Trp) c.922G>T (p.Gly308Trp) c.1024G>T (p.Gly342Trp) c.934G>T (p.Gly312Trp) c.925G>T (p.Gly309Trp) | |
| 3 | g.123325387C>G | CA354218475 | ADCY5 | c.700G>C (p.Gly234Arg) c.988G>C (p.Gly330Arg) c.2023G>C (p.Gly675Arg) n.282G>C c.973G>C (p.Gly325Arg) c.922G>C (p.Gly308Arg) c.1024G>C (p.Gly342Arg) c.934G>C (p.Gly312Arg) c.925G>C (p.Gly309Arg) | |
| 3 | g.123325387C>T | CA354218476 | ADCY5 | c.700G>A (p.Gly234Arg) c.988G>A (p.Gly330Arg) c.2023G>A (p.Gly675Arg) n.282G>A c.973G>A (p.Gly325Arg) c.922G>A (p.Gly308Arg) c.1024G>A (p.Gly342Arg) c.934G>A (p.Gly312Arg) c.925G>A (p.Gly309Arg) | |
| 3 | g.123325388C>A | CA354218477 | ADCY5 | c.699G>T (p.Trp233Cys) c.987G>T (p.Trp329Cys) c.2022G>T (p.Trp674Cys) n.281G>T c.972G>T (p.Trp324Cys) c.921G>T (p.Trp307Cys) c.1023G>T (p.Trp341Cys) c.933G>T (p.Trp311Cys) c.924G>T (p.Trp308Cys) | |
| 3 | g.123325388C= | CA1398346258 | ADCY5 | c.699G= (p.Trp233=) c.987G= (p.Trp329=) c.2022G= (p.Trp674=) n.281G= c.972G= (p.Trp324=) c.921G= (p.Trp307=) c.1023G= (p.Trp341=) c.933G= (p.Trp311=) c.924G= (p.Trp308=) | |
| 3 | g.123325388C>G | CA354218478 | ADCY5 | c.699G>C (p.Trp233Cys) c.987G>C (p.Trp329Cys) c.2022G>C (p.Trp674Cys) n.281G>C c.972G>C (p.Trp324Cys) c.921G>C (p.Trp307Cys) c.1023G>C (p.Trp341Cys) c.933G>C (p.Trp311Cys) c.924G>C (p.Trp308Cys) | |
| 3 | g.123325388C>T | CA354218479 | ADCY5 | c.699G>A (p.Trp233Ter) c.987G>A (p.Trp329Ter) c.2022G>A (p.Trp674Ter) n.281G>A c.972G>A (p.Trp324Ter) c.921G>A (p.Trp307Ter) c.1023G>A (p.Trp341Ter) c.933G>A (p.Trp311Ter) c.924G>A (p.Trp308Ter) | dbSNP |
| 3 | g.123325389C>A | CA354218480 | ADCY5 | c.698G>T (p.Trp233Leu) c.986G>T (p.Trp329Leu) c.2021G>T (p.Trp674Leu) n.280G>T c.971G>T (p.Trp324Leu) c.920G>T (p.Trp307Leu) c.1022G>T (p.Trp341Leu) c.932G>T (p.Trp311Leu) c.923G>T (p.Trp308Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325389C= | CA1398346259 | ADCY5 | c.698G= (p.Trp233=) c.986G= (p.Trp329=) c.2021G= (p.Trp674=) n.280G= c.971G= (p.Trp324=) c.920G= (p.Trp307=) c.1022G= (p.Trp341=) c.932G= (p.Trp311=) c.923G= (p.Trp308=) | |
| 3 | g.123325389C>G | CA354218481 | ADCY5 | c.698G>C (p.Trp233Ser) c.986G>C (p.Trp329Ser) c.2021G>C (p.Trp674Ser) n.280G>C c.971G>C (p.Trp324Ser) c.920G>C (p.Trp307Ser) c.1022G>C (p.Trp341Ser) c.932G>C (p.Trp311Ser) c.923G>C (p.Trp308Ser) | |
| 3 | g.123325389C>T | CA82899296 | ADCY5 | c.698G>A (p.Trp233Ter) c.986G>A (p.Trp329Ter) c.2021G>A (p.Trp674Ter) n.280G>A c.971G>A (p.Trp324Ter) c.920G>A (p.Trp307Ter) c.1022G>A (p.Trp341Ter) c.932G>A (p.Trp311Ter) c.923G>A (p.Trp308Ter) | dbSNP gnomAD v4 |
| 3 | g.123325390A>C | CA354218482 | ADCY5 | c.697T>G (p.Trp233Gly) c.985T>G (p.Trp329Gly) c.2020T>G (p.Trp674Gly) n.279T>G c.970T>G (p.Trp324Gly) c.919T>G (p.Trp307Gly) c.1021T>G (p.Trp341Gly) c.931T>G (p.Trp311Gly) c.922T>G (p.Trp308Gly) | |
| 3 | g.123325390A>G | CA354218483 | ADCY5 | c.697T>C (p.Trp233Arg) c.985T>C (p.Trp329Arg) c.2020T>C (p.Trp674Arg) n.279T>C c.970T>C (p.Trp324Arg) c.919T>C (p.Trp307Arg) c.1021T>C (p.Trp341Arg) c.931T>C (p.Trp311Arg) c.922T>C (p.Trp308Arg) | |
| 3 | g.123325390A>T | CA354218484 | ADCY5 | c.697T>A (p.Trp233Arg) c.985T>A (p.Trp329Arg) c.2020T>A (p.Trp674Arg) n.279T>A c.970T>A (p.Trp324Arg) c.919T>A (p.Trp307Arg) c.1021T>A (p.Trp341Arg) c.931T>A (p.Trp311Arg) c.922T>A (p.Trp308Arg) | |
| 3 | g.123325391G>A | CA435293361 | ADCY5 | c.696C>T (p.His232=) c.984C>T (p.His328=) c.2019C>T (p.His673=) n.278C>T c.969C>T (p.His323=) c.918C>T (p.His306=) c.1020C>T (p.His340=) c.930C>T (p.His310=) c.921C>T (p.His307=) | gnomAD v4 |
| 3 | g.123325391G>C | CA354218485 | ADCY5 | c.696C>G (p.His232Gln) c.984C>G (p.His328Gln) c.2019C>G (p.His673Gln) n.278C>G c.969C>G (p.His323Gln) c.918C>G (p.His306Gln) c.1020C>G (p.His340Gln) c.930C>G (p.His310Gln) c.921C>G (p.His307Gln) | |
| 3 | g.123325391G>T | CA354218486 | ADCY5 | c.696C>A (p.His232Gln) c.984C>A (p.His328Gln) c.2019C>A (p.His673Gln) n.278C>A c.969C>A (p.His323Gln) c.918C>A (p.His306Gln) c.1020C>A (p.His340Gln) c.930C>A (p.His310Gln) c.921C>A (p.His307Gln) | |
| 3 | g.123325392T>A | CA354218487 | ADCY5 | c.695A>T (p.His232Leu) c.983A>T (p.His328Leu) c.2018A>T (p.His673Leu) n.277A>T c.968A>T (p.His323Leu) c.917A>T (p.His306Leu) c.1019A>T (p.His340Leu) c.929A>T (p.His310Leu) c.920A>T (p.His307Leu) | |
| 3 | g.123325392T>C | CA354218488 | ADCY5 | c.695A>G (p.His232Arg) c.983A>G (p.His328Arg) c.2018A>G (p.His673Arg) n.277A>G c.968A>G (p.His323Arg) c.917A>G (p.His306Arg) c.1019A>G (p.His340Arg) c.929A>G (p.His310Arg) c.920A>G (p.His307Arg) | |
| 3 | g.123325392T>G | CA354218489 | ADCY5 | c.695A>C (p.His232Pro) c.983A>C (p.His328Pro) c.2018A>C (p.His673Pro) n.277A>C c.968A>C (p.His323Pro) c.917A>C (p.His306Pro) c.1019A>C (p.His340Pro) c.929A>C (p.His310Pro) c.920A>C (p.His307Pro) | |
| 3 | g.123325393G>A | CA354218490 | ADCY5 | c.694C>T (p.His232Tyr) c.982C>T (p.His328Tyr) c.2017C>T (p.His673Tyr) n.276C>T c.967C>T (p.His323Tyr) c.916C>T (p.His306Tyr) c.1018C>T (p.His340Tyr) c.928C>T (p.His310Tyr) c.919C>T (p.His307Tyr) | dbSNP |
| 3 | g.123325393G>C | CA354218491 | ADCY5 | c.694C>G (p.His232Asp) c.982C>G (p.His328Asp) c.2017C>G (p.His673Asp) n.276C>G c.967C>G (p.His323Asp) c.916C>G (p.His306Asp) c.1018C>G (p.His340Asp) c.928C>G (p.His310Asp) c.919C>G (p.His307Asp) | |
| 3 | g.123325393G= | CA1398346260 | ADCY5 | c.694C= (p.His232=) c.982C= (p.His328=) c.2017C= (p.His673=) n.276C= c.967C= (p.His323=) c.916C= (p.His306=) c.1018C= (p.His340=) c.928C= (p.His310=) c.919C= (p.His307=) | |
| 3 | g.123325393G>T | CA354218492 | ADCY5 | c.694C>A (p.His232Asn) c.982C>A (p.His328Asn) c.2017C>A (p.His673Asn) n.276C>A c.967C>A (p.His323Asn) c.916C>A (p.His306Asn) c.1018C>A (p.His340Asn) c.928C>A (p.His310Asn) c.919C>A (p.His307Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325394T>A | CA435293362 | ADCY5 | c.693A>T (p.Pro231=) c.981A>T (p.Pro327=) c.2016A>T (p.Pro672=) n.275A>T c.966A>T (p.Pro322=) c.915A>T (p.Pro305=) c.1017A>T (p.Pro339=) c.927A>T (p.Pro309=) c.918A>T (p.Pro306=) | |
| 3 | g.123325394T>C | CA435293363 | ADCY5 | c.693A>G (p.Pro231=) c.981A>G (p.Pro327=) c.2016A>G (p.Pro672=) n.275A>G c.966A>G (p.Pro322=) c.915A>G (p.Pro305=) c.1017A>G (p.Pro339=) c.927A>G (p.Pro309=) c.918A>G (p.Pro306=) | |
| 3 | g.123325394T>G | CA435293364 | ADCY5 | c.693A>C (p.Pro231=) c.981A>C (p.Pro327=) c.2016A>C (p.Pro672=) n.275A>C c.966A>C (p.Pro322=) c.915A>C (p.Pro305=) c.1017A>C (p.Pro339=) c.927A>C (p.Pro309=) c.918A>C (p.Pro306=) | |
| 3 | g.123325395G>A | CA2577284 | ADCY5 | c.692C>T (p.Pro231Leu) c.980C>T (p.Pro327Leu) c.2015C>T (p.Pro672Leu) n.274C>T c.965C>T (p.Pro322Leu) c.914C>T (p.Pro305Leu) c.1016C>T (p.Pro339Leu) c.926C>T (p.Pro309Leu) c.917C>T (p.Pro306Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123325395G>C | CA2577285 | ADCY5 | c.692C>G (p.Pro231Arg) c.980C>G (p.Pro327Arg) c.2015C>G (p.Pro672Arg) n.274C>G c.965C>G (p.Pro322Arg) c.914C>G (p.Pro305Arg) c.1016C>G (p.Pro339Arg) c.926C>G (p.Pro309Arg) c.917C>G (p.Pro306Arg) | dbSNP ExAC gnomAD v2 |
| 3 | g.123325395G= | CA1398346261 | ADCY5 | c.692C= (p.Pro231=) c.980C= (p.Pro327=) c.2015C= (p.Pro672=) n.274C= c.965C= (p.Pro322=) c.914C= (p.Pro305=) c.1016C= (p.Pro339=) c.926C= (p.Pro309=) c.917C= (p.Pro306=) | |
| 3 | g.123325395G>T | CA354218493 | ADCY5 | c.692C>A (p.Pro231Gln) c.980C>A (p.Pro327Gln) c.2015C>A (p.Pro672Gln) n.274C>A c.965C>A (p.Pro322Gln) c.914C>A (p.Pro305Gln) c.1016C>A (p.Pro339Gln) c.926C>A (p.Pro309Gln) c.917C>A (p.Pro306Gln) | gnomAD v4 |
| 3 | g.123325396G>A | CA2577286 | ADCY5 | c.691C>T (p.Pro231Ser) c.979C>T (p.Pro327Ser) c.2014C>T (p.Pro672Ser) n.273C>T c.964C>T (p.Pro322Ser) c.913C>T (p.Pro305Ser) c.1015C>T (p.Pro339Ser) c.925C>T (p.Pro309Ser) c.916C>T (p.Pro306Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123325396G>C | CA354218494 | ADCY5 | c.691C>G (p.Pro231Ala) c.979C>G (p.Pro327Ala) c.2014C>G (p.Pro672Ala) n.273C>G c.964C>G (p.Pro322Ala) c.913C>G (p.Pro305Ala) c.1015C>G (p.Pro339Ala) c.925C>G (p.Pro309Ala) c.916C>G (p.Pro306Ala) | |
| 3 | g.123325396G= | CA1398346262 | ADCY5 | c.691C= (p.Pro231=) c.979C= (p.Pro327=) c.2014C= (p.Pro672=) n.273C= c.964C= (p.Pro322=) c.913C= (p.Pro305=) c.1015C= (p.Pro339=) c.925C= (p.Pro309=) c.916C= (p.Pro306=) | |
| 3 | g.123325396G>T | CA354218495 | ADCY5 | c.691C>A (p.Pro231Thr) c.979C>A (p.Pro327Thr) c.2014C>A (p.Pro672Thr) n.273C>A c.964C>A (p.Pro322Thr) c.913C>A (p.Pro305Thr) c.1015C>A (p.Pro339Thr) c.925C>A (p.Pro309Thr) c.916C>A (p.Pro306Thr) | |
| 3 | g.123325397T>A | CA435293367 | ADCY5 | c.690A>T (p.Pro230=) c.978A>T (p.Pro326=) c.2013A>T (p.Pro671=) n.272A>T c.963A>T (p.Pro321=) c.912A>T (p.Pro304=) c.1014A>T (p.Pro338=) c.924A>T (p.Pro308=) c.915A>T (p.Pro305=) | |
| 3 | g.123325397T>C | CA435293365 | ADCY5 | c.690A>G (p.Pro230=) c.978A>G (p.Pro326=) c.2013A>G (p.Pro671=) n.272A>G c.963A>G (p.Pro321=) c.912A>G (p.Pro304=) c.1014A>G (p.Pro338=) c.924A>G (p.Pro308=) c.915A>G (p.Pro305=) | |
| 3 | g.123325397T>G | CA435293366 | ADCY5 | c.690A>C (p.Pro230=) c.978A>C (p.Pro326=) c.2013A>C (p.Pro671=) n.272A>C c.963A>C (p.Pro321=) c.912A>C (p.Pro304=) c.1014A>C (p.Pro338=) c.924A>C (p.Pro308=) c.915A>C (p.Pro305=) | |
| 3 | g.123325398G>A | CA354218496 | ADCY5 | c.689C>T (p.Pro230Leu) c.977C>T (p.Pro326Leu) c.2012C>T (p.Pro671Leu) n.271C>T c.962C>T (p.Pro321Leu) c.911C>T (p.Pro304Leu) c.1013C>T (p.Pro338Leu) c.923C>T (p.Pro308Leu) c.914C>T (p.Pro305Leu) | |
| 3 | g.123325398G>C | CA354218497 | ADCY5 | c.689C>G (p.Pro230Arg) c.977C>G (p.Pro326Arg) c.2012C>G (p.Pro671Arg) n.271C>G c.962C>G (p.Pro321Arg) c.911C>G (p.Pro304Arg) c.1013C>G (p.Pro338Arg) c.923C>G (p.Pro308Arg) c.914C>G (p.Pro305Arg) | |
| 3 | g.123325398G>T | CA354218498 | ADCY5 | c.689C>A (p.Pro230Gln) c.977C>A (p.Pro326Gln) c.2012C>A (p.Pro671Gln) n.271C>A c.962C>A (p.Pro321Gln) c.911C>A (p.Pro304Gln) c.1013C>A (p.Pro338Gln) c.923C>A (p.Pro308Gln) c.914C>A (p.Pro305Gln) | |
| 3 | g.123325399G>A | CA354218499 | ADCY5 | c.688C>T (p.Pro230Ser) c.976C>T (p.Pro326Ser) c.2011C>T (p.Pro671Ser) n.270C>T c.961C>T (p.Pro321Ser) c.910C>T (p.Pro304Ser) c.1012C>T (p.Pro338Ser) c.922C>T (p.Pro308Ser) c.913C>T (p.Pro305Ser) | |
| 3 | g.123325399G>C | CA354218500 | ADCY5 | c.688C>G (p.Pro230Ala) c.976C>G (p.Pro326Ala) c.2011C>G (p.Pro671Ala) n.270C>G c.961C>G (p.Pro321Ala) c.910C>G (p.Pro304Ala) c.1012C>G (p.Pro338Ala) c.922C>G (p.Pro308Ala) c.913C>G (p.Pro305Ala) | |
| 3 | g.123325399G>T | CA354218501 | ADCY5 | c.688C>A (p.Pro230Thr) c.976C>A (p.Pro326Thr) c.2011C>A (p.Pro671Thr) n.270C>A c.961C>A (p.Pro321Thr) c.910C>A (p.Pro304Thr) c.1012C>A (p.Pro338Thr) c.922C>A (p.Pro308Thr) c.913C>A (p.Pro305Thr) | |
| 3 | g.123325400G>A | CA82899314 | ADCY5 | c.687C>T (p.Asn229=) c.975C>T (p.Asn325=) c.2010C>T (p.Asn670=) n.269C>T c.960C>T (p.Asn320=) c.909C>T (p.Asn303=) c.1011C>T (p.Asn337=) c.921C>T (p.Asn307=) c.912C>T (p.Asn304=) | dbSNP gnomAD v4 |
| 3 | g.123325400G>C | CA354218502 | ADCY5 | c.687C>G (p.Asn229Lys) c.975C>G (p.Asn325Lys) c.2010C>G (p.Asn670Lys) n.269C>G c.960C>G (p.Asn320Lys) c.909C>G (p.Asn303Lys) c.1011C>G (p.Asn337Lys) c.921C>G (p.Asn307Lys) c.912C>G (p.Asn304Lys) | |
| 3 | g.123325400G= | CA1398346263 | ADCY5 | c.687C= (p.Asn229=) c.975C= (p.Asn325=) c.2010C= (p.Asn670=) n.269C= c.960C= (p.Asn320=) c.909C= (p.Asn303=) c.1011C= (p.Asn337=) c.921C= (p.Asn307=) c.912C= (p.Asn304=) | |
| 3 | g.123325400G>T | CA354218503 | ADCY5 | c.687C>A (p.Asn229Lys) c.975C>A (p.Asn325Lys) c.2010C>A (p.Asn670Lys) n.269C>A c.960C>A (p.Asn320Lys) c.909C>A (p.Asn303Lys) c.1011C>A (p.Asn337Lys) c.921C>A (p.Asn307Lys) c.912C>A (p.Asn304Lys) | gnomAD v4 |
| 3 | g.123325401T>A | CA354218506 | ADCY5 | c.686A>T (p.Asn229Ile) c.974A>T (p.Asn325Ile) c.2009A>T (p.Asn670Ile) n.268A>T c.959A>T (p.Asn320Ile) c.908A>T (p.Asn303Ile) c.1010A>T (p.Asn337Ile) c.920A>T (p.Asn307Ile) c.911A>T (p.Asn304Ile) | |
| 3 | g.123325401T>C | CA354218505 | ADCY5 | c.686A>G (p.Asn229Ser) c.974A>G (p.Asn325Ser) c.2009A>G (p.Asn670Ser) n.268A>G c.959A>G (p.Asn320Ser) c.908A>G (p.Asn303Ser) c.1010A>G (p.Asn337Ser) c.920A>G (p.Asn307Ser) c.911A>G (p.Asn304Ser) | |
| 3 | g.123325401T>G | CA354218504 | ADCY5 | c.686A>C (p.Asn229Thr) c.974A>C (p.Asn325Thr) c.2009A>C (p.Asn670Thr) n.268A>C c.959A>C (p.Asn320Thr) c.908A>C (p.Asn303Thr) c.1010A>C (p.Asn337Thr) c.920A>C (p.Asn307Thr) c.911A>C (p.Asn304Thr) | |
| 3 | g.123325402T>A | CA354218507 | ADCY5 | c.685A>T (p.Asn229Tyr) c.973A>T (p.Asn325Tyr) c.2008A>T (p.Asn670Tyr) n.267A>T c.958A>T (p.Asn320Tyr) c.907A>T (p.Asn303Tyr) c.1009A>T (p.Asn337Tyr) c.919A>T (p.Asn307Tyr) c.910A>T (p.Asn304Tyr) | |
| 3 | g.123325402T>C | CA354218508 | ADCY5 | c.685A>G (p.Asn229Asp) c.973A>G (p.Asn325Asp) c.2008A>G (p.Asn670Asp) n.267A>G c.958A>G (p.Asn320Asp) c.907A>G (p.Asn303Asp) c.1009A>G (p.Asn337Asp) c.919A>G (p.Asn307Asp) c.910A>G (p.Asn304Asp) | |
| 3 | g.123325402T>G | CA354218509 | ADCY5 | c.685A>C (p.Asn229His) c.973A>C (p.Asn325His) c.2008A>C (p.Asn670His) n.267A>C c.958A>C (p.Asn320His) c.907A>C (p.Asn303His) c.1009A>C (p.Asn337His) c.919A>C (p.Asn307His) c.910A>C (p.Asn304His) | |
| 3 | g.123325403G>A | CA435293368 | ADCY5 | c.684C>T (p.His228=) c.972C>T (p.His324=) c.2007C>T (p.His669=) n.266C>T c.957C>T (p.His319=) c.906C>T (p.His302=) c.1008C>T (p.His336=) c.918C>T (p.His306=) c.909C>T (p.His303=) | |
| 3 | g.123325403G>C | CA354218510 | ADCY5 | c.684C>G (p.His228Gln) c.972C>G (p.His324Gln) c.2007C>G (p.His669Gln) n.266C>G c.957C>G (p.His319Gln) c.906C>G (p.His302Gln) c.1008C>G (p.His336Gln) c.918C>G (p.His306Gln) c.909C>G (p.His303Gln) | gnomAD v4 |
| 3 | g.123325403G>T | CA354218511 | ADCY5 | c.684C>A (p.His228Gln) c.972C>A (p.His324Gln) c.2007C>A (p.His669Gln) n.266C>A c.957C>A (p.His319Gln) c.906C>A (p.His302Gln) c.1008C>A (p.His336Gln) c.918C>A (p.His306Gln) c.909C>A (p.His303Gln) | gnomAD v4 |
| 3 | g.123325404T>A | CA354218512 | ADCY5 | c.683A>T (p.His228Leu) c.971A>T (p.His324Leu) c.2006A>T (p.His669Leu) n.265A>T c.956A>T (p.His319Leu) c.905A>T (p.His302Leu) c.1007A>T (p.His336Leu) c.917A>T (p.His306Leu) c.908A>T (p.His303Leu) | |
| 3 | g.123325404T>C | CA354218513 | ADCY5 | c.683A>G (p.His228Arg) c.971A>G (p.His324Arg) c.2006A>G (p.His669Arg) n.265A>G c.956A>G (p.His319Arg) c.905A>G (p.His302Arg) c.1007A>G (p.His336Arg) c.917A>G (p.His306Arg) c.908A>G (p.His303Arg) | |
| 3 | g.123325404T>G | CA354218514 | ADCY5 | c.683A>C (p.His228Pro) c.971A>C (p.His324Pro) c.2006A>C (p.His669Pro) n.265A>C c.956A>C (p.His319Pro) c.905A>C (p.His302Pro) c.1007A>C (p.His336Pro) c.917A>C (p.His306Pro) c.908A>C (p.His303Pro) | |
| 3 | g.123325405G>A | CA354218515 | ADCY5 | c.682C>T (p.His228Tyr) c.970C>T (p.His324Tyr) c.2005C>T (p.His669Tyr) n.264C>T c.955C>T (p.His319Tyr) c.904C>T (p.His302Tyr) c.1006C>T (p.His336Tyr) c.916C>T (p.His306Tyr) c.907C>T (p.His303Tyr) | gnomAD v4 COSMIC |
| 3 | g.123325405G>C | CA354218516 | ADCY5 | c.682C>G (p.His228Asp) c.970C>G (p.His324Asp) c.2005C>G (p.His669Asp) n.264C>G c.955C>G (p.His319Asp) c.904C>G (p.His302Asp) c.1006C>G (p.His336Asp) c.916C>G (p.His306Asp) c.907C>G (p.His303Asp) | |
| 3 | g.123325405G>T | CA354218517 | ADCY5 | c.682C>A (p.His228Asn) c.970C>A (p.His324Asn) c.2005C>A (p.His669Asn) n.264C>A c.955C>A (p.His319Asn) c.904C>A (p.His302Asn) c.1006C>A (p.His336Asn) c.916C>A (p.His306Asn) c.907C>A (p.His303Asn) | |
| 3 | g.123325406C>A | CA435293369 | ADCY5 | c.681G>T (p.Gly227=) c.969G>T (p.Gly323=) c.2004G>T (p.Gly668=) n.263G>T c.954G>T (p.Gly318=) c.903G>T (p.Gly301=) c.1005G>T (p.Gly335=) c.915G>T (p.Gly305=) c.906G>T (p.Gly302=) | gnomAD v4 |
| 3 | g.123325406C>G | CA435293370 | ADCY5 | c.681G>C (p.Gly227=) c.969G>C (p.Gly323=) c.2004G>C (p.Gly668=) n.263G>C c.954G>C (p.Gly318=) c.903G>C (p.Gly301=) c.1005G>C (p.Gly335=) c.915G>C (p.Gly305=) c.906G>C (p.Gly302=) | |
| 3 | g.123325406C>T | CA435293371 | ADCY5 | c.681G>A (p.Gly227=) c.969G>A (p.Gly323=) c.2004G>A (p.Gly668=) n.263G>A c.954G>A (p.Gly318=) c.903G>A (p.Gly301=) c.1005G>A (p.Gly335=) c.915G>A (p.Gly305=) c.906G>A (p.Gly302=) | |
| 3 | g.123325407C>A | CA354218520 | ADCY5 | c.680G>T (p.Gly227Val) c.968G>T (p.Gly323Val) c.2003G>T (p.Gly668Val) n.262G>T c.953G>T (p.Gly318Val) c.902G>T (p.Gly301Val) c.1004G>T (p.Gly335Val) c.914G>T (p.Gly305Val) c.905G>T (p.Gly302Val) | |
| 3 | g.123325407C>G | CA354218519 | ADCY5 | c.680G>C (p.Gly227Ala) c.968G>C (p.Gly323Ala) c.2003G>C (p.Gly668Ala) n.262G>C c.953G>C (p.Gly318Ala) c.902G>C (p.Gly301Ala) c.1004G>C (p.Gly335Ala) c.914G>C (p.Gly305Ala) c.905G>C (p.Gly302Ala) | |
| 3 | g.123325407C>T | CA354218518 | ADCY5 | c.680G>A (p.Gly227Glu) c.968G>A (p.Gly323Glu) c.2003G>A (p.Gly668Glu) n.262G>A c.953G>A (p.Gly318Glu) c.902G>A (p.Gly301Glu) c.1004G>A (p.Gly335Glu) c.914G>A (p.Gly305Glu) c.905G>A (p.Gly302Glu) | |
| 3 | g.123325408C>A | CA354218521 | ADCY5 | c.679G>T (p.Gly227Trp) c.967G>T (p.Gly323Trp) c.2002G>T (p.Gly668Trp) n.261G>T c.952G>T (p.Gly318Trp) c.901G>T (p.Gly301Trp) c.1003G>T (p.Gly335Trp) c.913G>T (p.Gly305Trp) c.904G>T (p.Gly302Trp) | |
| 3 | g.123325408C= | CA1398346264 | ADCY5 | c.679G= (p.Gly227=) c.967G= (p.Gly323=) c.2002G= (p.Gly668=) n.261G= c.952G= (p.Gly318=) c.901G= (p.Gly301=) c.1003G= (p.Gly335=) c.913G= (p.Gly305=) c.904G= (p.Gly302=) | |
| 3 | g.123325408C>G | CA354218523 | ADCY5 | c.679G>C (p.Gly227Arg) c.967G>C (p.Gly323Arg) c.2002G>C (p.Gly668Arg) n.261G>C c.952G>C (p.Gly318Arg) c.901G>C (p.Gly301Arg) c.1003G>C (p.Gly335Arg) c.913G>C (p.Gly305Arg) c.904G>C (p.Gly302Arg) | |
| 3 | g.123325408C>T | CA354218522 | ADCY5 | c.679G>A (p.Gly227Arg) c.967G>A (p.Gly323Arg) c.2002G>A (p.Gly668Arg) n.261G>A c.952G>A (p.Gly318Arg) c.901G>A (p.Gly301Arg) c.1003G>A (p.Gly335Arg) c.913G>A (p.Gly305Arg) c.904G>A (p.Gly302Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.123325409G>A | CA2577287 | ADCY5 | c.678C>T (p.Ile226=) c.966C>T (p.Ile322=) c.2001C>T (p.Ile667=) n.260C>T c.951C>T (p.Ile317=) c.900C>T (p.Ile300=) c.1002C>T (p.Ile334=) c.912C>T (p.Ile304=) c.903C>T (p.Ile301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325409G>C | CA354218524 | ADCY5 | c.678C>G (p.Ile226Met) c.966C>G (p.Ile322Met) c.2001C>G (p.Ile667Met) n.260C>G c.951C>G (p.Ile317Met) c.900C>G (p.Ile300Met) c.1002C>G (p.Ile334Met) c.912C>G (p.Ile304Met) c.903C>G (p.Ile301Met) | |
| 3 | g.123325409G= | CA1398346265 | ADCY5 | c.678C= (p.Ile226=) c.966C= (p.Ile322=) c.2001C= (p.Ile667=) n.260C= c.951C= (p.Ile317=) c.900C= (p.Ile300=) c.1002C= (p.Ile334=) c.912C= (p.Ile304=) c.903C= (p.Ile301=) | |
| 3 | g.123325409G>T | CA435293372 | ADCY5 | c.678C>A (p.Ile226=) c.966C>A (p.Ile322=) c.2001C>A (p.Ile667=) n.260C>A c.951C>A (p.Ile317=) c.900C>A (p.Ile300=) c.1002C>A (p.Ile334=) c.912C>A (p.Ile304=) c.903C>A (p.Ile301=) | |
| 3 | g.123325410A= | CA1398346266 | ADCY5 | c.677T= (p.Ile226=) c.965T= (p.Ile322=) c.2000T= (p.Ile667=) n.259T= c.950T= (p.Ile317=) c.899T= (p.Ile300=) c.1001T= (p.Ile334=) c.911T= (p.Ile304=) c.902T= (p.Ile301=) | |
| 3 | g.123325410A>C | CA354218525 | ADCY5 | c.677T>G (p.Ile226Ser) c.965T>G (p.Ile322Ser) c.2000T>G (p.Ile667Ser) n.259T>G c.950T>G (p.Ile317Ser) c.899T>G (p.Ile300Ser) c.1001T>G (p.Ile334Ser) c.911T>G (p.Ile304Ser) c.902T>G (p.Ile301Ser) | |
| 3 | g.123325410A>G | CA354218526 | ADCY5 | c.677T>C (p.Ile226Thr) c.965T>C (p.Ile322Thr) c.2000T>C (p.Ile667Thr) n.259T>C c.950T>C (p.Ile317Thr) c.899T>C (p.Ile300Thr) c.1001T>C (p.Ile334Thr) c.911T>C (p.Ile304Thr) c.902T>C (p.Ile301Thr) | |
| 3 | g.123325410A>T | CA16604356 | ADCY5 | c.677T>A (p.Ile226Asn) c.965T>A (p.Ile322Asn) c.2000T>A (p.Ile667Asn) n.259T>A c.950T>A (p.Ile317Asn) c.899T>A (p.Ile300Asn) c.1001T>A (p.Ile334Asn) c.911T>A (p.Ile304Asn) c.902T>A (p.Ile301Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.123325411T>A | CA354218527 | ADCY5 | c.676A>T (p.Ile226Phe) c.964A>T (p.Ile322Phe) c.1999A>T (p.Ile667Phe) n.258A>T c.949A>T (p.Ile317Phe) c.898A>T (p.Ile300Phe) c.1000A>T (p.Ile334Phe) c.910A>T (p.Ile304Phe) c.901A>T (p.Ile301Phe) | |
| 3 | g.123325411T>C | CA354218528 | ADCY5 | c.676A>G (p.Ile226Val) c.964A>G (p.Ile322Val) c.1999A>G (p.Ile667Val) n.258A>G c.949A>G (p.Ile317Val) c.898A>G (p.Ile300Val) c.1000A>G (p.Ile334Val) c.910A>G (p.Ile304Val) c.901A>G (p.Ile301Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123325411T>G | CA354218529 | ADCY5 | c.676A>C (p.Ile226Leu) c.964A>C (p.Ile322Leu) c.1999A>C (p.Ile667Leu) n.258A>C c.949A>C (p.Ile317Leu) c.898A>C (p.Ile300Leu) c.1000A>C (p.Ile334Leu) c.910A>C (p.Ile304Leu) c.901A>C (p.Ile301Leu) | |
| 3 | g.123325411T= | CA1398346267 | ADCY5 | c.676A= (p.Ile226=) c.964A= (p.Ile322=) c.1999A= (p.Ile667=) n.258A= c.949A= (p.Ile317=) c.898A= (p.Ile300=) c.1000A= (p.Ile334=) c.910A= (p.Ile304=) c.901A= (p.Ile301=) | |
| 3 | g.123325412G>A | CA2577288 | ADCY5 | c.675C>T (p.Ser225=) c.963C>T (p.Ser321=) c.1998C>T (p.Ser666=) n.257C>T c.948C>T (p.Ser316=) c.897C>T (p.Ser299=) c.999C>T (p.Ser333=) c.909C>T (p.Ser303=) c.900C>T (p.Ser300=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123325412G>C | CA435293373 | ADCY5 | c.675C>G (p.Ser225=) c.963C>G (p.Ser321=) c.1998C>G (p.Ser666=) n.257C>G c.948C>G (p.Ser316=) c.897C>G (p.Ser299=) c.999C>G (p.Ser333=) c.909C>G (p.Ser303=) c.900C>G (p.Ser300=) | |
| 3 | g.123325412G= | CA1398346268 | ADCY5 | c.675C= (p.Ser225=) c.963C= (p.Ser321=) c.1998C= (p.Ser666=) n.257C= c.948C= (p.Ser316=) c.897C= (p.Ser299=) c.999C= (p.Ser333=) c.909C= (p.Ser303=) c.900C= (p.Ser300=) | |
| 3 | g.123325412G>T | CA435293374 | ADCY5 | c.675C>A (p.Ser225=) c.963C>A (p.Ser321=) c.1998C>A (p.Ser666=) n.257C>A c.948C>A (p.Ser316=) c.897C>A (p.Ser299=) c.999C>A (p.Ser333=) c.909C>A (p.Ser303=) c.900C>A (p.Ser300=) | |
| 3 | g.123325413G>A | CA354218530 | ADCY5 | c.674C>T (p.Ser225Phe) c.962C>T (p.Ser321Phe) c.1997C>T (p.Ser666Phe) n.256C>T c.947C>T (p.Ser316Phe) c.896C>T (p.Ser299Phe) c.998C>T (p.Ser333Phe) c.908C>T (p.Ser303Phe) c.899C>T (p.Ser300Phe) | COSMIC |
| 3 | g.123325413G>C | CA354218531 | ADCY5 | c.674C>G (p.Ser225Cys) c.962C>G (p.Ser321Cys) c.1997C>G (p.Ser666Cys) n.256C>G c.947C>G (p.Ser316Cys) c.896C>G (p.Ser299Cys) c.998C>G (p.Ser333Cys) c.908C>G (p.Ser303Cys) c.899C>G (p.Ser300Cys) | |
| 3 | g.123325413G>T | CA354218532 | ADCY5 | c.674C>A (p.Ser225Tyr) c.962C>A (p.Ser321Tyr) c.1997C>A (p.Ser666Tyr) n.256C>A c.947C>A (p.Ser316Tyr) c.896C>A (p.Ser299Tyr) c.998C>A (p.Ser333Tyr) c.908C>A (p.Ser303Tyr) c.899C>A (p.Ser300Tyr) | |
| 3 | g.123325414A>C | CA354218533 | ADCY5 | c.673T>G (p.Ser225Ala) c.961T>G (p.Ser321Ala) c.1996T>G (p.Ser666Ala) n.255T>G c.946T>G (p.Ser316Ala) c.895T>G (p.Ser299Ala) c.997T>G (p.Ser333Ala) c.907T>G (p.Ser303Ala) c.898T>G (p.Ser300Ala) | |
| 3 | g.123325414A>G | CA354218535 | ADCY5 | c.673T>C (p.Ser225Pro) c.961T>C (p.Ser321Pro) c.1996T>C (p.Ser666Pro) n.255T>C c.946T>C (p.Ser316Pro) c.895T>C (p.Ser299Pro) c.997T>C (p.Ser333Pro) c.907T>C (p.Ser303Pro) c.898T>C (p.Ser300Pro) | |
| 3 | g.123325414A>T | CA354218534 | ADCY5 | c.673T>A (p.Ser225Thr) c.961T>A (p.Ser321Thr) c.1996T>A (p.Ser666Thr) n.255T>A c.946T>A (p.Ser316Thr) c.895T>A (p.Ser299Thr) c.997T>A (p.Ser333Thr) c.907T>A (p.Ser303Thr) c.898T>A (p.Ser300Thr) | |
| 3 | g.123325415G>A | CA2577289 | ADCY5 | c.672C>T (p.Asn224=) c.960C>T (p.Asn320=) c.1995C>T (p.Asn665=) n.254C>T c.945C>T (p.Asn315=) c.894C>T (p.Asn298=) c.996C>T (p.Asn332=) c.906C>T (p.Asn302=) c.897C>T (p.Asn299=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325415G>C | CA354218536 | ADCY5 | c.672C>G (p.Asn224Lys) c.960C>G (p.Asn320Lys) c.1995C>G (p.Asn665Lys) n.254C>G c.945C>G (p.Asn315Lys) c.894C>G (p.Asn298Lys) c.996C>G (p.Asn332Lys) c.906C>G (p.Asn302Lys) c.897C>G (p.Asn299Lys) | |
| 3 | g.123325415G= | CA1398346269 | ADCY5 | c.672C= (p.Asn224=) c.960C= (p.Asn320=) c.1995C= (p.Asn665=) n.254C= c.945C= (p.Asn315=) c.894C= (p.Asn298=) c.996C= (p.Asn332=) c.906C= (p.Asn302=) c.897C= (p.Asn299=) | |
| 3 | g.123325415G>T | CA354218537 | ADCY5 | c.672C>A (p.Asn224Lys) c.960C>A (p.Asn320Lys) c.1995C>A (p.Asn665Lys) n.254C>A c.945C>A (p.Asn315Lys) c.894C>A (p.Asn298Lys) c.996C>A (p.Asn332Lys) c.906C>A (p.Asn302Lys) c.897C>A (p.Asn299Lys) | |
| 3 | g.123325416T>A | CA354218538 | ADCY5 | c.671A>T (p.Asn224Ile) c.959A>T (p.Asn320Ile) c.1994A>T (p.Asn665Ile) n.253A>T c.944A>T (p.Asn315Ile) c.893A>T (p.Asn298Ile) c.995A>T (p.Asn332Ile) c.905A>T (p.Asn302Ile) c.896A>T (p.Asn299Ile) | |
| 3 | g.123325416T>C | CA354218539 | ADCY5 | c.671A>G (p.Asn224Ser) c.959A>G (p.Asn320Ser) c.1994A>G (p.Asn665Ser) n.253A>G c.944A>G (p.Asn315Ser) c.893A>G (p.Asn298Ser) c.995A>G (p.Asn332Ser) c.905A>G (p.Asn302Ser) c.896A>G (p.Asn299Ser) | gnomAD v4 |
| 3 | g.123325416T>G | CA354218540 | ADCY5 | c.671A>C (p.Asn224Thr) c.959A>C (p.Asn320Thr) c.1994A>C (p.Asn665Thr) n.253A>C c.944A>C (p.Asn315Thr) c.893A>C (p.Asn298Thr) c.995A>C (p.Asn332Thr) c.905A>C (p.Asn302Thr) c.896A>C (p.Asn299Thr) | |
| 3 | g.123325417T>A | CA354218541 | ADCY5 | c.670A>T (p.Asn224Tyr) c.958A>T (p.Asn320Tyr) c.1993A>T (p.Asn665Tyr) n.252A>T c.943A>T (p.Asn315Tyr) c.892A>T (p.Asn298Tyr) c.994A>T (p.Asn332Tyr) c.904A>T (p.Asn302Tyr) c.895A>T (p.Asn299Tyr) | |
| 3 | g.123325417T>C | CA354218542 | ADCY5 | c.670A>G (p.Asn224Asp) c.958A>G (p.Asn320Asp) c.1993A>G (p.Asn665Asp) n.252A>G c.943A>G (p.Asn315Asp) c.892A>G (p.Asn298Asp) c.994A>G (p.Asn332Asp) c.904A>G (p.Asn302Asp) c.895A>G (p.Asn299Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123325417T>G | CA354218543 | ADCY5 | c.670A>C (p.Asn224His) c.958A>C (p.Asn320His) c.1993A>C (p.Asn665His) n.252A>C c.943A>C (p.Asn315His) c.892A>C (p.Asn298His) c.994A>C (p.Asn332His) c.904A>C (p.Asn302His) c.895A>C (p.Asn299His) | |
| 3 | g.123325417T= | CA1398346270 | ADCY5 | c.670A= (p.Asn224=) c.958A= (p.Asn320=) c.1993A= (p.Asn665=) n.252A= c.943A= (p.Asn315=) c.892A= (p.Asn298=) c.994A= (p.Asn332=) c.904A= (p.Asn302=) c.895A= (p.Asn299=) | |
| 3 | g.123325418G>A | CA435293377 | ADCY5 | c.669C>T (p.Thr223=) c.957C>T (p.Thr319=) c.1992C>T (p.Thr664=) n.251C>T c.942C>T (p.Thr314=) c.891C>T (p.Thr297=) c.993C>T (p.Thr331=) c.903C>T (p.Thr301=) c.894C>T (p.Thr298=) | |
| 3 | g.123325418G>C | CA435293375 | ADCY5 | c.669C>G (p.Thr223=) c.957C>G (p.Thr319=) c.1992C>G (p.Thr664=) n.251C>G c.942C>G (p.Thr314=) c.891C>G (p.Thr297=) c.993C>G (p.Thr331=) c.903C>G (p.Thr301=) c.894C>G (p.Thr298=) | |
| 3 | g.123325418G>T | CA435293376 | ADCY5 | c.669C>A (p.Thr223=) c.957C>A (p.Thr319=) c.1992C>A (p.Thr664=) n.251C>A c.942C>A (p.Thr314=) c.891C>A (p.Thr297=) c.993C>A (p.Thr331=) c.903C>A (p.Thr301=) c.894C>A (p.Thr298=) | |
| 3 | g.123325419G>A | CA354218545 | ADCY5 | c.668C>T (p.Thr223Ile) c.956C>T (p.Thr319Ile) c.1991C>T (p.Thr664Ile) n.250C>T c.941C>T (p.Thr314Ile) c.890C>T (p.Thr297Ile) c.992C>T (p.Thr331Ile) c.902C>T (p.Thr301Ile) c.893C>T (p.Thr298Ile) | |
| 3 | g.123325419G>C | CA354218546 | ADCY5 | c.668C>G (p.Thr223Ser) c.956C>G (p.Thr319Ser) c.1991C>G (p.Thr664Ser) n.250C>G c.941C>G (p.Thr314Ser) c.890C>G (p.Thr297Ser) c.992C>G (p.Thr331Ser) c.902C>G (p.Thr301Ser) c.893C>G (p.Thr298Ser) | |
| 3 | g.123325419G>T | CA354218544 | ADCY5 | c.668C>A (p.Thr223Asn) c.956C>A (p.Thr319Asn) c.1991C>A (p.Thr664Asn) n.250C>A c.941C>A (p.Thr314Asn) c.890C>A (p.Thr297Asn) c.992C>A (p.Thr331Asn) c.902C>A (p.Thr301Asn) c.893C>A (p.Thr298Asn) | |
| 3 | g.123325420T>A | CA354218547 | ADCY5 | c.667A>T (p.Thr223Ser) c.955A>T (p.Thr319Ser) c.1990A>T (p.Thr664Ser) n.249A>T c.940A>T (p.Thr314Ser) c.889A>T (p.Thr297Ser) c.991A>T (p.Thr331Ser) c.901A>T (p.Thr301Ser) c.892A>T (p.Thr298Ser) | |
| 3 | g.123325420T>C | CA354218548 | ADCY5 | c.667A>G (p.Thr223Ala) c.955A>G (p.Thr319Ala) c.1990A>G (p.Thr664Ala) n.249A>G c.940A>G (p.Thr314Ala) c.889A>G (p.Thr297Ala) c.991A>G (p.Thr331Ala) c.901A>G (p.Thr301Ala) c.892A>G (p.Thr298Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123325420T>G | CA354218549 | ADCY5 | c.667A>C (p.Thr223Pro) c.955A>C (p.Thr319Pro) c.1990A>C (p.Thr664Pro) n.249A>C c.940A>C (p.Thr314Pro) c.889A>C (p.Thr297Pro) c.991A>C (p.Thr331Pro) c.901A>C (p.Thr301Pro) c.892A>C (p.Thr298Pro) | |
| 3 | g.123325420T= | CA1398346271 | ADCY5 | c.667A= (p.Thr223=) c.955A= (p.Thr319=) c.1990A= (p.Thr664=) n.249A= c.940A= (p.Thr314=) c.889A= (p.Thr297=) c.991A= (p.Thr331=) c.901A= (p.Thr301=) c.892A= (p.Thr298=) | |
| 3 | g.123325421T>A | CA354218550 | ADCY5 | c.666A>T (p.Arg222Ser) c.954A>T (p.Arg318Ser) c.1989A>T (p.Arg663Ser) n.248A>T c.939A>T (p.Arg313Ser) c.888A>T (p.Arg296Ser) c.990A>T (p.Arg330Ser) c.900A>T (p.Arg300Ser) c.891A>T (p.Arg297Ser) | |
| 3 | g.123325421T>C | CA435293378 | ADCY5 | c.666A>G (p.Arg222=) c.954A>G (p.Arg318=) c.1989A>G (p.Arg663=) n.248A>G c.939A>G (p.Arg313=) c.888A>G (p.Arg296=) c.990A>G (p.Arg330=) c.900A>G (p.Arg300=) c.891A>G (p.Arg297=) | |
| 3 | g.123325421T>G | CA354218551 | ADCY5 | c.666A>C (p.Arg222Ser) c.954A>C (p.Arg318Ser) c.1989A>C (p.Arg663Ser) n.248A>C c.939A>C (p.Arg313Ser) c.888A>C (p.Arg296Ser) c.990A>C (p.Arg330Ser) c.900A>C (p.Arg300Ser) c.891A>C (p.Arg297Ser) | |
| 3 | g.123325422C>A | CA354218552 | ADCY5 | c.665G>T (p.Arg222Ile) c.953G>T (p.Arg318Ile) c.1988G>T (p.Arg663Ile) n.247G>T c.938G>T (p.Arg313Ile) c.887G>T (p.Arg296Ile) c.989G>T (p.Arg330Ile) c.899G>T (p.Arg300Ile) c.890G>T (p.Arg297Ile) | COSMIC |
| 3 | g.123325422C= | CA1398346272 | ADCY5 | c.665G= (p.Arg222=) c.953G= (p.Arg318=) c.1988G= (p.Arg663=) n.247G= c.938G= (p.Arg313=) c.887G= (p.Arg296=) c.989G= (p.Arg330=) c.899G= (p.Arg300=) c.890G= (p.Arg297=) | |
| 3 | g.123325422C>G | CA82899335 | ADCY5 | c.665G>C (p.Arg222Thr) c.953G>C (p.Arg318Thr) c.1988G>C (p.Arg663Thr) n.247G>C c.938G>C (p.Arg313Thr) c.887G>C (p.Arg296Thr) c.989G>C (p.Arg330Thr) c.899G>C (p.Arg300Thr) c.890G>C (p.Arg297Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123325422C>T | CA82899338 | ADCY5 | c.665G>A (p.Arg222Lys) c.953G>A (p.Arg318Lys) c.1988G>A (p.Arg663Lys) n.247G>A c.938G>A (p.Arg313Lys) c.887G>A (p.Arg296Lys) c.989G>A (p.Arg330Lys) c.899G>A (p.Arg300Lys) c.890G>A (p.Arg297Lys) | dbSNP gnomAD v4 |
| 3 | g.123325423T>A | CA354218553 | ADCY5 | c.664A>T (p.Arg222Ter) c.952A>T (p.Arg318Ter) c.1987A>T (p.Arg663Ter) n.246A>T c.937A>T (p.Arg313Ter) c.886A>T (p.Arg296Ter) c.988A>T (p.Arg330Ter) c.898A>T (p.Arg300Ter) c.889A>T (p.Arg297Ter) | dbSNP |
| 3 | g.123325423T>C | CA354218554 | ADCY5 | c.664A>G (p.Arg222Gly) c.952A>G (p.Arg318Gly) c.1987A>G (p.Arg663Gly) n.246A>G c.937A>G (p.Arg313Gly) c.886A>G (p.Arg296Gly) c.988A>G (p.Arg330Gly) c.898A>G (p.Arg300Gly) c.889A>G (p.Arg297Gly) | |
| 3 | g.123325423T>G | CA435293379 | ADCY5 | c.664A>C (p.Arg222=) c.952A>C (p.Arg318=) c.1987A>C (p.Arg663=) n.246A>C c.937A>C (p.Arg313=) c.886A>C (p.Arg296=) c.988A>C (p.Arg330=) c.898A>C (p.Arg300=) c.889A>C (p.Arg297=) | ClinVar |
| 3 | g.123325423T= | CA1398346273 | ADCY5 | c.664A= (p.Arg222=) c.952A= (p.Arg318=) c.1987A= (p.Arg663=) n.246A= c.937A= (p.Arg313=) c.886A= (p.Arg296=) c.988A= (p.Arg330=) c.898A= (p.Arg300=) c.889A= (p.Arg297=) | |
| 3 | g.123325424C>A | CA354218555 | ADCY5 | c.663G>T (p.Gln221His) c.951G>T (p.Gln317His) c.1986G>T (p.Gln662His) n.245G>T c.936G>T (p.Gln312His) c.885G>T (p.Gln295His) c.987G>T (p.Gln329His) c.897G>T (p.Gln299His) c.888G>T (p.Gln296His) | |
| 3 | g.123325424C>G | CA354218556 | ADCY5 | c.663G>C (p.Gln221His) c.951G>C (p.Gln317His) c.1986G>C (p.Gln662His) n.245G>C c.936G>C (p.Gln312His) c.885G>C (p.Gln295His) c.987G>C (p.Gln329His) c.897G>C (p.Gln299His) c.888G>C (p.Gln296His) | |
| 3 | g.123325424C>T | CA435293380 | ADCY5 | c.663G>A (p.Gln221=) c.951G>A (p.Gln317=) c.1986G>A (p.Gln662=) n.245G>A c.936G>A (p.Gln312=) c.885G>A (p.Gln295=) c.987G>A (p.Gln329=) c.897G>A (p.Gln299=) c.888G>A (p.Gln296=) | |
| 3 | g.123325425T>A | CA354218558 | ADCY5 | c.662A>T (p.Gln221Leu) c.950A>T (p.Gln317Leu) c.1985A>T (p.Gln662Leu) n.244A>T c.935A>T (p.Gln312Leu) c.884A>T (p.Gln295Leu) c.986A>T (p.Gln329Leu) c.896A>T (p.Gln299Leu) c.887A>T (p.Gln296Leu) | |
| 3 | g.123325425T>C | CA354218559 | ADCY5 | c.662A>G (p.Gln221Arg) c.950A>G (p.Gln317Arg) c.1985A>G (p.Gln662Arg) n.244A>G c.935A>G (p.Gln312Arg) c.884A>G (p.Gln295Arg) c.986A>G (p.Gln329Arg) c.896A>G (p.Gln299Arg) c.887A>G (p.Gln296Arg) | |
| 3 | g.123325425T>G | CA354218557 | ADCY5 | c.662A>C (p.Gln221Pro) c.950A>C (p.Gln317Pro) c.1985A>C (p.Gln662Pro) n.244A>C c.935A>C (p.Gln312Pro) c.884A>C (p.Gln295Pro) c.986A>C (p.Gln329Pro) c.896A>C (p.Gln299Pro) c.887A>C (p.Gln296Pro) | |
| 3 | g.123325426G>A | CA354218560 | ADCY5 | c.661C>T (p.Gln221Ter) c.949C>T (p.Gln317Ter) c.1984C>T (p.Gln662Ter) n.243C>T c.934C>T (p.Gln312Ter) c.883C>T (p.Gln295Ter) c.985C>T (p.Gln329Ter) c.895C>T (p.Gln299Ter) c.886C>T (p.Gln296Ter) | dbSNP |
| 3 | g.123325426G>C | CA354218561 | ADCY5 | c.661C>G (p.Gln221Glu) c.949C>G (p.Gln317Glu) c.1984C>G (p.Gln662Glu) n.243C>G c.934C>G (p.Gln312Glu) c.883C>G (p.Gln295Glu) c.985C>G (p.Gln329Glu) c.895C>G (p.Gln299Glu) c.886C>G (p.Gln296Glu) | |
| 3 | g.123325426G= | CA1398346274 | ADCY5 | c.661C= (p.Gln221=) c.949C= (p.Gln317=) c.1984C= (p.Gln662=) n.243C= c.934C= (p.Gln312=) c.883C= (p.Gln295=) c.985C= (p.Gln329=) c.895C= (p.Gln299=) c.886C= (p.Gln296=) | |
| 3 | g.123325426G>T | CA354218562 | ADCY5 | c.661C>A (p.Gln221Lys) c.949C>A (p.Gln317Lys) c.1984C>A (p.Gln662Lys) n.243C>A c.934C>A (p.Gln312Lys) c.883C>A (p.Gln295Lys) c.985C>A (p.Gln329Lys) c.895C>A (p.Gln299Lys) c.886C>A (p.Gln296Lys) | |
| 3 | g.123325427G>A | CA435293381 | ADCY5 | c.660C>T (p.Arg220=) c.948C>T (p.Arg316=) c.1983C>T (p.Arg661=) n.242C>T c.933C>T (p.Arg311=) c.882C>T (p.Arg294=) c.984C>T (p.Arg328=) c.894C>T (p.Arg298=) c.885C>T (p.Arg295=) | COSMIC |
| 3 | g.123325427G>C | CA435293382 | ADCY5 | c.660C>G (p.Arg220=) c.948C>G (p.Arg316=) c.1983C>G (p.Arg661=) n.242C>G c.933C>G (p.Arg311=) c.882C>G (p.Arg294=) c.984C>G (p.Arg328=) c.894C>G (p.Arg298=) c.885C>G (p.Arg295=) | |
| 3 | g.123325427G>T | CA435293383 | ADCY5 | c.660C>A (p.Arg220=) c.948C>A (p.Arg316=) c.1983C>A (p.Arg661=) n.242C>A c.933C>A (p.Arg311=) c.882C>A (p.Arg294=) c.984C>A (p.Arg328=) c.894C>A (p.Arg298=) c.885C>A (p.Arg295=) | |
| 3 | g.123325428C>A | CA354218563 | ADCY5 | c.659G>T (p.Arg220Leu) c.947G>T (p.Arg316Leu) c.1982G>T (p.Arg661Leu) n.241G>T c.932G>T (p.Arg311Leu) c.881G>T (p.Arg294Leu) c.983G>T (p.Arg328Leu) c.893G>T (p.Arg298Leu) c.884G>T (p.Arg295Leu) | gnomAD v4 |
| 3 | g.123325428C= | CA1398346275 | ADCY5 | c.659G= (p.Arg220=) c.947G= (p.Arg316=) c.1982G= (p.Arg661=) n.241G= c.932G= (p.Arg311=) c.881G= (p.Arg294=) c.983G= (p.Arg328=) c.893G= (p.Arg298=) c.884G= (p.Arg295=) | |
| 3 | g.123325428C>G | CA354218564 | ADCY5 | c.659G>C (p.Arg220Pro) c.947G>C (p.Arg316Pro) c.1982G>C (p.Arg661Pro) n.241G>C c.932G>C (p.Arg311Pro) c.881G>C (p.Arg294Pro) c.983G>C (p.Arg328Pro) c.893G>C (p.Arg298Pro) c.884G>C (p.Arg295Pro) | |
| 3 | g.123325428C>T | CA2577290 | ADCY5 | c.659G>A (p.Arg220His) c.947G>A (p.Arg316His) c.1982G>A (p.Arg661His) n.241G>A c.932G>A (p.Arg311His) c.881G>A (p.Arg294His) c.983G>A (p.Arg328His) c.893G>A (p.Arg298His) c.884G>A (p.Arg295His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123325429G>A | CA2577291 | ADCY5 | c.658C>T (p.Arg220Cys) c.946C>T (p.Arg316Cys) c.1981C>T (p.Arg661Cys) n.240C>T c.931C>T (p.Arg311Cys) c.880C>T (p.Arg294Cys) c.982C>T (p.Arg328Cys) c.892C>T (p.Arg298Cys) c.883C>T (p.Arg295Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123325429G>C | CA354218566 | ADCY5 | c.658C>G (p.Arg220Gly) c.946C>G (p.Arg316Gly) c.1981C>G (p.Arg661Gly) n.240C>G c.931C>G (p.Arg311Gly) c.880C>G (p.Arg294Gly) c.982C>G (p.Arg328Gly) c.892C>G (p.Arg298Gly) c.883C>G (p.Arg295Gly) | |
| 3 | g.123325429G= | CA1398346276 | ADCY5 | c.658C= (p.Arg220=) c.946C= (p.Arg316=) c.1981C= (p.Arg661=) n.240C= c.931C= (p.Arg311=) c.880C= (p.Arg294=) c.982C= (p.Arg328=) c.892C= (p.Arg298=) c.883C= (p.Arg295=) | |
| 3 | g.123325429G>T | CA354218565 | ADCY5 | c.658C>A (p.Arg220Ser) c.946C>A (p.Arg316Ser) c.1981C>A (p.Arg661Ser) n.240C>A c.931C>A (p.Arg311Ser) c.880C>A (p.Arg294Ser) c.982C>A (p.Arg328Ser) c.892C>A (p.Arg298Ser) c.883C>A (p.Arg295Ser) | |
| 3 | g.123325430G>A | CA435293384 | ADCY5 | c.657C>T (p.Asn219=) c.945C>T (p.Asn315=) c.1980C>T (p.Asn660=) n.239C>T c.930C>T (p.Asn310=) c.879C>T (p.Asn293=) c.981C>T (p.Asn327=) c.891C>T (p.Asn297=) c.882C>T (p.Asn294=) | |
| 3 | g.123325430G>C | CA354218567 | ADCY5 | c.657C>G (p.Asn219Lys) c.945C>G (p.Asn315Lys) c.1980C>G (p.Asn660Lys) n.239C>G c.930C>G (p.Asn310Lys) c.879C>G (p.Asn293Lys) c.981C>G (p.Asn327Lys) c.891C>G (p.Asn297Lys) c.882C>G (p.Asn294Lys) | |
| 3 | g.123325430G>T | CA354218568 | ADCY5 | c.657C>A (p.Asn219Lys) c.945C>A (p.Asn315Lys) c.1980C>A (p.Asn660Lys) n.239C>A c.930C>A (p.Asn310Lys) c.879C>A (p.Asn293Lys) c.981C>A (p.Asn327Lys) c.891C>A (p.Asn297Lys) c.882C>A (p.Asn294Lys) | |
| 3 | g.123325431T>A | CA354218569 | ADCY5 | c.656A>T (p.Asn219Ile) c.944A>T (p.Asn315Ile) c.1979A>T (p.Asn660Ile) n.238A>T c.929A>T (p.Asn310Ile) c.878A>T (p.Asn293Ile) c.980A>T (p.Asn327Ile) c.890A>T (p.Asn297Ile) c.881A>T (p.Asn294Ile) | |
| 3 | g.123325431T>C | CA354218570 | ADCY5 | c.656A>G (p.Asn219Ser) c.944A>G (p.Asn315Ser) c.1979A>G (p.Asn660Ser) n.238A>G c.929A>G (p.Asn310Ser) c.878A>G (p.Asn293Ser) c.980A>G (p.Asn327Ser) c.890A>G (p.Asn297Ser) c.881A>G (p.Asn294Ser) | |
| 3 | g.123325431T>G | CA354218571 | ADCY5 | c.656A>C (p.Asn219Thr) c.944A>C (p.Asn315Thr) c.1979A>C (p.Asn660Thr) n.238A>C c.929A>C (p.Asn310Thr) c.878A>C (p.Asn293Thr) c.980A>C (p.Asn327Thr) c.890A>C (p.Asn297Thr) c.881A>C (p.Asn294Thr) | dbSNP |
| 3 | g.123325431T= | CA1398346277 | ADCY5 | c.656A= (p.Asn219=) c.944A= (p.Asn315=) c.1979A= (p.Asn660=) n.238A= c.929A= (p.Asn310=) c.878A= (p.Asn293=) c.980A= (p.Asn327=) c.890A= (p.Asn297=) c.881A= (p.Asn294=) | |
| 3 | g.123325432T>A | CA354218573 | ADCY5 | c.655A>T (p.Asn219Tyr) c.943A>T (p.Asn315Tyr) c.1978A>T (p.Asn660Tyr) n.237A>T c.928A>T (p.Asn310Tyr) c.877A>T (p.Asn293Tyr) c.979A>T (p.Asn327Tyr) c.889A>T (p.Asn297Tyr) c.880A>T (p.Asn294Tyr) | COSMIC |
| 3 | g.123325432T>C | CA354218574 | ADCY5 | c.655A>G (p.Asn219Asp) c.943A>G (p.Asn315Asp) c.1978A>G (p.Asn660Asp) n.237A>G c.928A>G (p.Asn310Asp) c.877A>G (p.Asn293Asp) c.979A>G (p.Asn327Asp) c.889A>G (p.Asn297Asp) c.880A>G (p.Asn294Asp) | |
| 3 | g.123325432T>G | CA354218572 | ADCY5 | c.655A>C (p.Asn219His) c.943A>C (p.Asn315His) c.1978A>C (p.Asn660His) n.237A>C c.928A>C (p.Asn310His) c.877A>C (p.Asn293His) c.979A>C (p.Asn327His) c.889A>C (p.Asn297His) c.880A>C (p.Asn294His) | |
| 3 | g.123325433C>A | CA354218576 | ADCY5 | c.654G>T (p.Met218Ile) c.942G>T (p.Met314Ile) c.1977G>T (p.Met659Ile) n.236G>T c.927G>T (p.Met309Ile) c.876G>T (p.Met292Ile) c.978G>T (p.Met326Ile) c.888G>T (p.Met296Ile) c.879G>T (p.Met293Ile) | |
| 3 | g.123325433C= | CA1398346278 | ADCY5 | c.654G= (p.Met218=) c.942G= (p.Met314=) c.1977G= (p.Met659=) n.236G= c.927G= (p.Met309=) c.876G= (p.Met292=) c.978G= (p.Met326=) c.888G= (p.Met296=) c.879G= (p.Met293=) | |
| 3 | g.123325433C>G | CA354218575 | ADCY5 | c.654G>C (p.Met218Ile) c.942G>C (p.Met314Ile) c.1977G>C (p.Met659Ile) n.236G>C c.927G>C (p.Met309Ile) c.876G>C (p.Met292Ile) c.978G>C (p.Met326Ile) c.888G>C (p.Met296Ile) c.879G>C (p.Met293Ile) | |
| 3 | g.123325433C>T | CA82899348 | ADCY5 | c.654G>A (p.Met218Ile) c.942G>A (p.Met314Ile) c.1977G>A (p.Met659Ile) n.236G>A c.927G>A (p.Met309Ile) c.876G>A (p.Met292Ile) c.978G>A (p.Met326Ile) c.888G>A (p.Met296Ile) c.879G>A (p.Met293Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123325434A>C | CA354218577 | ADCY5 | c.653T>G (p.Met218Arg) c.941T>G (p.Met314Arg) c.1976T>G (p.Met659Arg) n.235T>G c.926T>G (p.Met309Arg) c.875T>G (p.Met292Arg) c.977T>G (p.Met326Arg) c.887T>G (p.Met296Arg) c.878T>G (p.Met293Arg) | |
| 3 | g.123325434A>G | CA354218579 | ADCY5 | c.653T>C (p.Met218Thr) c.941T>C (p.Met314Thr) c.1976T>C (p.Met659Thr) n.235T>C c.926T>C (p.Met309Thr) c.875T>C (p.Met292Thr) c.977T>C (p.Met326Thr) c.887T>C (p.Met296Thr) c.878T>C (p.Met293Thr) | |
| 3 | g.123325434A>T | CA354218578 | ADCY5 | c.653T>A (p.Met218Lys) c.941T>A (p.Met314Lys) c.1976T>A (p.Met659Lys) n.235T>A c.926T>A (p.Met309Lys) c.875T>A (p.Met292Lys) c.977T>A (p.Met326Lys) c.887T>A (p.Met296Lys) c.878T>A (p.Met293Lys) | |
| 3 | g.123325435T>A | CA354218580 | ADCY5 | c.652A>T (p.Met218Leu) c.940A>T (p.Met314Leu) c.1975A>T (p.Met659Leu) n.234A>T c.925A>T (p.Met309Leu) c.874A>T (p.Met292Leu) c.976A>T (p.Met326Leu) c.886A>T (p.Met296Leu) c.877A>T (p.Met293Leu) | |
| 3 | g.123325435T>C | CA2577292 | ADCY5 | c.652A>G (p.Met218Val) c.940A>G (p.Met314Val) c.1975A>G (p.Met659Val) n.234A>G c.925A>G (p.Met309Val) c.874A>G (p.Met292Val) c.976A>G (p.Met326Val) c.886A>G (p.Met296Val) c.877A>G (p.Met293Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123325435T>G | CA354218581 | ADCY5 | c.652A>C (p.Met218Leu) c.940A>C (p.Met314Leu) c.1975A>C (p.Met659Leu) n.234A>C c.925A>C (p.Met309Leu) c.874A>C (p.Met292Leu) c.976A>C (p.Met326Leu) c.886A>C (p.Met296Leu) c.877A>C (p.Met293Leu) | |
| 3 | g.123325435T= | CA1398346279 | ADCY5 | c.652A= (p.Met218=) c.940A= (p.Met314=) c.1975A= (p.Met659=) n.234A= c.925A= (p.Met309=) c.874A= (p.Met292=) c.976A= (p.Met326=) c.886A= (p.Met296=) c.877A= (p.Met293=) | |
| 3 | g.123325436C>A | CA354218582 | ADCY5 | c.651G>T (p.Lys217Asn) c.939G>T (p.Lys313Asn) c.1974G>T (p.Lys658Asn) n.233G>T c.924G>T (p.Lys308Asn) c.873G>T (p.Lys291Asn) c.975G>T (p.Lys325Asn) c.885G>T (p.Lys295Asn) c.876G>T (p.Lys292Asn) | |
| 3 | g.123325436C= | CA1398346280 | ADCY5 | c.651G= (p.Lys217=) c.939G= (p.Lys313=) c.1974G= (p.Lys658=) n.233G= c.924G= (p.Lys308=) c.873G= (p.Lys291=) c.975G= (p.Lys325=) c.885G= (p.Lys295=) c.876G= (p.Lys292=) | |
| 3 | g.123325436C>G | CA354218583 | ADCY5 | c.651G>C (p.Lys217Asn) c.939G>C (p.Lys313Asn) c.1974G>C (p.Lys658Asn) n.233G>C c.924G>C (p.Lys308Asn) c.873G>C (p.Lys291Asn) c.975G>C (p.Lys325Asn) c.885G>C (p.Lys295Asn) c.876G>C (p.Lys292Asn) | |
| 3 | g.123325436C>T | CA2577293 | ADCY5 | c.651G>A (p.Lys217=) c.939G>A (p.Lys313=) c.1974G>A (p.Lys658=) n.233G>A c.924G>A (p.Lys308=) c.873G>A (p.Lys291=) c.975G>A (p.Lys325=) c.885G>A (p.Lys295=) c.876G>A (p.Lys292=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325437T>A | CA354218584 | ADCY5 | c.650A>T (p.Lys217Met) c.938A>T (p.Lys313Met) c.1973A>T (p.Lys658Met) n.232A>T c.923A>T (p.Lys308Met) c.872A>T (p.Lys291Met) c.974A>T (p.Lys325Met) c.884A>T (p.Lys295Met) c.875A>T (p.Lys292Met) | |
| 3 | g.123325437T>C | CA354218585 | ADCY5 | c.650A>G (p.Lys217Arg) c.938A>G (p.Lys313Arg) c.1973A>G (p.Lys658Arg) n.232A>G c.923A>G (p.Lys308Arg) c.872A>G (p.Lys291Arg) c.974A>G (p.Lys325Arg) c.884A>G (p.Lys295Arg) c.875A>G (p.Lys292Arg) | dbSNP |
| 3 | g.123325437T>G | CA354218586 | ADCY5 | c.650A>C (p.Lys217Thr) c.938A>C (p.Lys313Thr) c.1973A>C (p.Lys658Thr) n.232A>C c.923A>C (p.Lys308Thr) c.872A>C (p.Lys291Thr) c.974A>C (p.Lys325Thr) c.884A>C (p.Lys295Thr) c.875A>C (p.Lys292Thr) | |
| 3 | g.123325437T= | CA1398346281 | ADCY5 | c.650A= (p.Lys217=) c.938A= (p.Lys313=) c.1973A= (p.Lys658=) n.232A= c.923A= (p.Lys308=) c.872A= (p.Lys291=) c.974A= (p.Lys325=) c.884A= (p.Lys295=) c.875A= (p.Lys292=) | |
| 3 | g.123325438T>A | CA354218587 | ADCY5 | c.649A>T (p.Lys217Ter) c.937A>T (p.Lys313Ter) c.1972A>T (p.Lys658Ter) n.231A>T c.922A>T (p.Lys308Ter) c.871A>T (p.Lys291Ter) c.973A>T (p.Lys325Ter) c.883A>T (p.Lys295Ter) c.874A>T (p.Lys292Ter) | dbSNP |
| 3 | g.123325438T>C | CA354218588 | ADCY5 | c.649A>G (p.Lys217Glu) c.937A>G (p.Lys313Glu) c.1972A>G (p.Lys658Glu) n.231A>G c.922A>G (p.Lys308Glu) c.871A>G (p.Lys291Glu) c.973A>G (p.Lys325Glu) c.883A>G (p.Lys295Glu) c.874A>G (p.Lys292Glu) | |
| 3 | g.123325438T>G | CA354218589 | ADCY5 | c.649A>C (p.Lys217Gln) c.937A>C (p.Lys313Gln) c.1972A>C (p.Lys658Gln) n.231A>C c.922A>C (p.Lys308Gln) c.871A>C (p.Lys291Gln) c.973A>C (p.Lys325Gln) c.883A>C (p.Lys295Gln) c.874A>C (p.Lys292Gln) | |
| 3 | g.123325438T= | CA1398346282 | ADCY5 | c.649A= (p.Lys217=) c.937A= (p.Lys313=) c.1972A= (p.Lys658=) n.231A= c.922A= (p.Lys308=) c.871A= (p.Lys291=) c.973A= (p.Lys325=) c.883A= (p.Lys295=) c.874A= (p.Lys292=) | |
| 3 | g.123325439G>A | CA435293387 | ADCY5 | c.648C>T (p.Ala216=) c.936C>T (p.Ala312=) c.1971C>T (p.Ala657=) n.230C>T c.921C>T (p.Ala307=) c.870C>T (p.Ala290=) c.972C>T (p.Ala324=) c.882C>T (p.Ala294=) c.873C>T (p.Ala291=) | |
| 3 | g.123325439G>C | CA435293386 | ADCY5 | c.648C>G (p.Ala216=) c.936C>G (p.Ala312=) c.1971C>G (p.Ala657=) n.230C>G c.921C>G (p.Ala307=) c.870C>G (p.Ala290=) c.972C>G (p.Ala324=) c.882C>G (p.Ala294=) c.873C>G (p.Ala291=) | |
| 3 | g.123325439G= | CA1398346283 | ADCY5 | c.648C= (p.Ala216=) c.936C= (p.Ala312=) c.1971C= (p.Ala657=) n.230C= c.921C= (p.Ala307=) c.870C= (p.Ala290=) c.972C= (p.Ala324=) c.882C= (p.Ala294=) c.873C= (p.Ala291=) | |
| 3 | g.123325439G>T | CA82899373 | ADCY5 | c.648C>A (p.Ala216=) c.936C>A (p.Ala312=) c.1971C>A (p.Ala657=) n.230C>A c.921C>A (p.Ala307=) c.870C>A (p.Ala290=) c.972C>A (p.Ala324=) c.882C>A (p.Ala294=) c.873C>A (p.Ala291=) | dbSNP |
| 3 | g.123325440G>A | CA354218590 | ADCY5 | c.647C>T (p.Ala216Val) c.935C>T (p.Ala312Val) c.1970C>T (p.Ala657Val) n.229C>T c.920C>T (p.Ala307Val) c.869C>T (p.Ala290Val) c.971C>T (p.Ala324Val) c.881C>T (p.Ala294Val) c.872C>T (p.Ala291Val) | dbSNP gnomAD v2 |
| 3 | g.123325440G>C | CA354218591 | ADCY5 | c.647C>G (p.Ala216Gly) c.935C>G (p.Ala312Gly) c.1970C>G (p.Ala657Gly) n.229C>G c.920C>G (p.Ala307Gly) c.869C>G (p.Ala290Gly) c.971C>G (p.Ala324Gly) c.881C>G (p.Ala294Gly) c.872C>G (p.Ala291Gly) | |
| 3 | g.123325440G= | CA1398346284 | ADCY5 | c.647C= (p.Ala216=) c.935C= (p.Ala312=) c.1970C= (p.Ala657=) n.229C= c.920C= (p.Ala307=) c.869C= (p.Ala290=) c.971C= (p.Ala324=) c.881C= (p.Ala294=) c.872C= (p.Ala291=) | |
| 3 | g.123325440G>T | CA354218592 | ADCY5 | c.647C>A (p.Ala216Asp) c.935C>A (p.Ala312Asp) c.1970C>A (p.Ala657Asp) n.229C>A c.920C>A (p.Ala307Asp) c.869C>A (p.Ala290Asp) c.971C>A (p.Ala324Asp) c.881C>A (p.Ala294Asp) c.872C>A (p.Ala291Asp) | |
| 3 | g.123325441C>A | CA354218593 | ADCY5 | c.646G>T (p.Ala216Ser) c.934G>T (p.Ala312Ser) c.1969G>T (p.Ala657Ser) n.228G>T c.919G>T (p.Ala307Ser) c.868G>T (p.Ala290Ser) c.970G>T (p.Ala324Ser) c.880G>T (p.Ala294Ser) c.871G>T (p.Ala291Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123325441C= | CA1398346285 | ADCY5 | c.646G= (p.Ala216=) c.934G= (p.Ala312=) c.1969G= (p.Ala657=) n.228G= c.919G= (p.Ala307=) c.868G= (p.Ala290=) c.970G= (p.Ala324=) c.880G= (p.Ala294=) c.871G= (p.Ala291=) | |
| 3 | g.123325441C>G | CA354218594 | ADCY5 | c.646G>C (p.Ala216Pro) c.934G>C (p.Ala312Pro) c.1969G>C (p.Ala657Pro) n.228G>C c.919G>C (p.Ala307Pro) c.868G>C (p.Ala290Pro) c.970G>C (p.Ala324Pro) c.880G>C (p.Ala294Pro) c.871G>C (p.Ala291Pro) | |
| 3 | g.123325441C>T | CA2577294 | ADCY5 | c.646G>A (p.Ala216Thr) c.934G>A (p.Ala312Thr) c.1969G>A (p.Ala657Thr) n.228G>A c.919G>A (p.Ala307Thr) c.868G>A (p.Ala290Thr) c.970G>A (p.Ala324Thr) c.880G>A (p.Ala294Thr) c.871G>A (p.Ala291Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123325442G>A | CA2577295 | ADCY5 | c.645C>T (p.Ile215=) c.933C>T (p.Ile311=) c.1968C>T (p.Ile656=) n.227C>T c.918C>T (p.Ile306=) c.867C>T (p.Ile289=) c.969C>T (p.Ile323=) c.879C>T (p.Ile293=) c.870C>T (p.Ile290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123325442G>C | CA354218595 | ADCY5 | c.645C>G (p.Ile215Met) c.933C>G (p.Ile311Met) c.1968C>G (p.Ile656Met) n.227C>G c.918C>G (p.Ile306Met) c.867C>G (p.Ile289Met) c.969C>G (p.Ile323Met) c.879C>G (p.Ile293Met) c.870C>G (p.Ile290Met) | gnomAD v4 |
| 3 | g.123325442G= | CA1398346286 | ADCY5 | c.645C= (p.Ile215=) c.933C= (p.Ile311=) c.1968C= (p.Ile656=) n.227C= c.918C= (p.Ile306=) c.867C= (p.Ile289=) c.969C= (p.Ile323=) c.879C= (p.Ile293=) c.870C= (p.Ile290=) | |
| 3 | g.123325442G>T | CA435293388 | ADCY5 | c.645C>A (p.Ile215=) c.933C>A (p.Ile311=) c.1968C>A (p.Ile656=) n.227C>A c.918C>A (p.Ile306=) c.867C>A (p.Ile289=) c.969C>A (p.Ile323=) c.879C>A (p.Ile293=) c.870C>A (p.Ile290=) | |
| 3 | g.123325443A>C | CA354218596 | ADCY5 | c.644T>G (p.Ile215Ser) c.932T>G (p.Ile311Ser) c.1967T>G (p.Ile656Ser) n.226T>G c.917T>G (p.Ile306Ser) c.866T>G (p.Ile289Ser) c.968T>G (p.Ile323Ser) c.878T>G (p.Ile293Ser) c.869T>G (p.Ile290Ser) | |
| 3 | g.123325443A>G | CA354218597 | ADCY5 | c.644T>C (p.Ile215Thr) c.932T>C (p.Ile311Thr) c.1967T>C (p.Ile656Thr) n.226T>C c.917T>C (p.Ile306Thr) c.866T>C (p.Ile289Thr) c.968T>C (p.Ile323Thr) c.878T>C (p.Ile293Thr) c.869T>C (p.Ile290Thr) | |
| 3 | g.123325443A>T | CA354218598 | ADCY5 | c.644T>A (p.Ile215Asn) c.932T>A (p.Ile311Asn) c.1967T>A (p.Ile656Asn) n.226T>A c.917T>A (p.Ile306Asn) c.866T>A (p.Ile289Asn) c.968T>A (p.Ile323Asn) c.878T>A (p.Ile293Asn) c.869T>A (p.Ile290Asn) | |
| 3 | g.123325444T>A | CA354218599 | ADCY5 | c.643A>T (p.Ile215Phe) c.931A>T (p.Ile311Phe) c.1966A>T (p.Ile656Phe) n.225A>T c.916A>T (p.Ile306Phe) c.865A>T (p.Ile289Phe) c.967A>T (p.Ile323Phe) c.877A>T (p.Ile293Phe) c.868A>T (p.Ile290Phe) | |
| 3 | g.123325444T>C | CA354218600 | ADCY5 | c.643A>G (p.Ile215Val) c.931A>G (p.Ile311Val) c.1966A>G (p.Ile656Val) n.225A>G c.916A>G (p.Ile306Val) c.865A>G (p.Ile289Val) c.967A>G (p.Ile323Val) c.877A>G (p.Ile293Val) c.868A>G (p.Ile290Val) | gnomAD v4 |
| 3 | g.123325444T>G | CA354218601 | ADCY5 | c.643A>C (p.Ile215Leu) c.931A>C (p.Ile311Leu) c.1966A>C (p.Ile656Leu) n.225A>C c.916A>C (p.Ile306Leu) c.865A>C (p.Ile289Leu) c.967A>C (p.Ile323Leu) c.877A>C (p.Ile293Leu) c.868A>C (p.Ile290Leu) | |
| 3 | g.123325445C>A | CA354218602 | ADCY5 | c.642G>T (p.Met214Ile) c.930G>T (p.Met310Ile) c.1965G>T (p.Met655Ile) n.224G>T c.915G>T (p.Met305Ile) c.864G>T (p.Met288Ile) c.966G>T (p.Met322Ile) c.876G>T (p.Met292Ile) c.867G>T (p.Met289Ile) | |
| 3 | g.123325445C>G | CA354218604 | ADCY5 | c.642G>C (p.Met214Ile) c.930G>C (p.Met310Ile) c.1965G>C (p.Met655Ile) n.224G>C c.915G>C (p.Met305Ile) c.864G>C (p.Met288Ile) c.966G>C (p.Met322Ile) c.876G>C (p.Met292Ile) c.867G>C (p.Met289Ile) | |
| 3 | g.123325445C>T | CA354218603 | ADCY5 | c.642G>A (p.Met214Ile) c.930G>A (p.Met310Ile) c.1965G>A (p.Met655Ile) n.224G>A c.915G>A (p.Met305Ile) c.864G>A (p.Met288Ile) c.966G>A (p.Met322Ile) c.876G>A (p.Met292Ile) c.867G>A (p.Met289Ile) | |
| 3 | g.123325446A= | CA1398346287 | ADCY5 | c.641T= (p.Met214=) c.929T= (p.Met310=) c.1964T= (p.Met655=) n.223T= c.914T= (p.Met305=) c.863T= (p.Met288=) c.965T= (p.Met322=) c.875T= (p.Met292=) c.866T= (p.Met289=) | |
| 3 | g.123325446A>C | CA354218605 | ADCY5 | c.641T>G (p.Met214Arg) c.929T>G (p.Met310Arg) c.1964T>G (p.Met655Arg) n.223T>G c.914T>G (p.Met305Arg) c.863T>G (p.Met288Arg) c.965T>G (p.Met322Arg) c.875T>G (p.Met292Arg) c.866T>G (p.Met289Arg) | |
| 3 | g.123325446A>G | CA354218606 | ADCY5 | c.641T>C (p.Met214Thr) c.929T>C (p.Met310Thr) c.1964T>C (p.Met655Thr) n.223T>C c.914T>C (p.Met305Thr) c.863T>C (p.Met288Thr) c.965T>C (p.Met322Thr) c.875T>C (p.Met292Thr) c.866T>C (p.Met289Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123325446A>T | CA354218607 | ADCY5 | c.641T>A (p.Met214Lys) c.929T>A (p.Met310Lys) c.1964T>A (p.Met655Lys) n.223T>A c.914T>A (p.Met305Lys) c.863T>A (p.Met288Lys) c.965T>A (p.Met322Lys) c.875T>A (p.Met292Lys) c.866T>A (p.Met289Lys) | gnomAD v4 |
| 3 | g.123325447T>A | CA354218608 | ADCY5 | c.640A>T (p.Met214Leu) c.928A>T (p.Met310Leu) c.1963A>T (p.Met655Leu) n.222A>T c.913A>T (p.Met305Leu) c.862A>T (p.Met288Leu) c.964A>T (p.Met322Leu) c.874A>T (p.Met292Leu) c.865A>T (p.Met289Leu) | |
| 3 | g.123325447T>C | CA2577296 | ADCY5 | c.640A>G (p.Met214Val) c.928A>G (p.Met310Val) c.1963A>G (p.Met655Val) n.222A>G c.913A>G (p.Met305Val) c.862A>G (p.Met288Val) c.964A>G (p.Met322Val) c.874A>G (p.Met292Val) c.865A>G (p.Met289Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123325447T>G | CA354218609 | ADCY5 | c.640A>C (p.Met214Leu) c.928A>C (p.Met310Leu) c.1963A>C (p.Met655Leu) n.222A>C c.913A>C (p.Met305Leu) c.862A>C (p.Met288Leu) c.964A>C (p.Met322Leu) c.874A>C (p.Met292Leu) c.865A>C (p.Met289Leu) | |
| 3 | g.123325447T= | CA1398346288 | ADCY5 | c.640A= (p.Met214=) c.928A= (p.Met310=) c.1963A= (p.Met655=) n.222A= c.913A= (p.Met305=) c.862A= (p.Met288=) c.964A= (p.Met322=) c.874A= (p.Met292=) c.865A= (p.Met289=) | |
| 3 | g.123325448G>A | CA435293389 | ADCY5 | c.639C>T (p.Ala213=) c.927C>T (p.Ala309=) c.1962C>T (p.Ala654=) n.221C>T c.912C>T (p.Ala304=) c.861C>T (p.Ala287=) c.963C>T (p.Ala321=) c.873C>T (p.Ala291=) c.864C>T (p.Ala288=) | |
| 3 | g.123325448G>C | CA435293390 | ADCY5 | c.639C>G (p.Ala213=) c.927C>G (p.Ala309=) c.1962C>G (p.Ala654=) n.221C>G c.912C>G (p.Ala304=) c.861C>G (p.Ala287=) c.963C>G (p.Ala321=) c.873C>G (p.Ala291=) c.864C>G (p.Ala288=) | |
| 3 | g.123325448G>T | CA435293391 | ADCY5 | c.639C>A (p.Ala213=) c.927C>A (p.Ala309=) c.1962C>A (p.Ala654=) n.221C>A c.912C>A (p.Ala304=) c.861C>A (p.Ala287=) c.963C>A (p.Ala321=) c.873C>A (p.Ala291=) c.864C>A (p.Ala288=) | |
| 3 | g.123325449G>A | CA354218610 | ADCY5 | c.638C>T (p.Ala213Val) c.926C>T (p.Ala309Val) c.1961C>T (p.Ala654Val) n.220C>T c.911C>T (p.Ala304Val) c.860C>T (p.Ala287Val) c.962C>T (p.Ala321Val) c.872C>T (p.Ala291Val) c.863C>T (p.Ala288Val) | |
| 3 | g.123325449G>C | CA354218611 | ADCY5 | c.638C>G (p.Ala213Gly) c.926C>G (p.Ala309Gly) c.1961C>G (p.Ala654Gly) n.220C>G c.911C>G (p.Ala304Gly) c.860C>G (p.Ala287Gly) c.962C>G (p.Ala321Gly) c.872C>G (p.Ala291Gly) c.863C>G (p.Ala288Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123325449G= | CA1398346289 | ADCY5 | c.638C= (p.Ala213=) c.926C= (p.Ala309=) c.1961C= (p.Ala654=) n.220C= c.911C= (p.Ala304=) c.860C= (p.Ala287=) c.962C= (p.Ala321=) c.872C= (p.Ala291=) c.863C= (p.Ala288=) | |
| 3 | g.123325449G>T | CA354218612 | ADCY5 | c.638C>A (p.Ala213Asp) c.926C>A (p.Ala309Asp) c.1961C>A (p.Ala654Asp) n.220C>A c.911C>A (p.Ala304Asp) c.860C>A (p.Ala287Asp) c.962C>A (p.Ala321Asp) c.872C>A (p.Ala291Asp) c.863C>A (p.Ala288Asp) | |
| 3 | g.123325450C>A | CA354218613 | ADCY5 | c.637G>T (p.Ala213Ser) c.925G>T (p.Ala309Ser) c.1960G>T (p.Ala654Ser) n.219G>T c.910G>T (p.Ala304Ser) c.859G>T (p.Ala287Ser) c.961G>T (p.Ala321Ser) c.871G>T (p.Ala291Ser) c.862G>T (p.Ala288Ser) | |
| 3 | g.123325450C= | CA1398346290 | ADCY5 | c.637G= (p.Ala213=) c.925G= (p.Ala309=) c.1960G= (p.Ala654=) n.219G= c.910G= (p.Ala304=) c.859G= (p.Ala287=) c.961G= (p.Ala321=) c.871G= (p.Ala291=) c.862G= (p.Ala288=) | |
| 3 | g.123325450C>G | CA354218614 | ADCY5 | c.637G>C (p.Ala213Pro) c.925G>C (p.Ala309Pro) c.1960G>C (p.Ala654Pro) n.219G>C c.910G>C (p.Ala304Pro) c.859G>C (p.Ala287Pro) c.961G>C (p.Ala321Pro) c.871G>C (p.Ala291Pro) c.862G>C (p.Ala288Pro) | dbSNP |
| 3 | g.123325450C>T | CA2577297 | ADCY5 | c.637G>A (p.Ala213Thr) c.925G>A (p.Ala309Thr) c.1960G>A (p.Ala654Thr) n.219G>A c.910G>A (p.Ala304Thr) c.859G>A (p.Ala287Thr) c.961G>A (p.Ala321Thr) c.871G>A (p.Ala291Thr) c.862G>A (p.Ala288Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123325451C>A | CA354218616 | ADCY5 | c.636G>T (p.Lys212Asn) c.924G>T (p.Lys308Asn) c.1959G>T (p.Lys653Asn) n.218G>T c.909G>T (p.Lys303Asn) c.858G>T (p.Lys286Asn) c.960G>T (p.Lys320Asn) c.870G>T (p.Lys290Asn) c.861G>T (p.Lys287Asn) | COSMIC |
| 3 | g.123325451C>G | CA354218615 | ADCY5 | c.636G>C (p.Lys212Asn) c.924G>C (p.Lys308Asn) c.1959G>C (p.Lys653Asn) n.218G>C c.909G>C (p.Lys303Asn) c.858G>C (p.Lys286Asn) c.960G>C (p.Lys320Asn) c.870G>C (p.Lys290Asn) c.861G>C (p.Lys287Asn) | |
| 3 | g.123325451C>T | CA435293393 | ADCY5 | c.636G>A (p.Lys212=) c.924G>A (p.Lys308=) c.1959G>A (p.Lys653=) n.218G>A c.909G>A (p.Lys303=) c.858G>A (p.Lys286=) c.960G>A (p.Lys320=) c.870G>A (p.Lys290=) c.861G>A (p.Lys287=) | |
| 3 | g.123325452T>A | CA354218617 | ADCY5 | c.635A>T (p.Lys212Met) c.923A>T (p.Lys308Met) c.1958A>T (p.Lys653Met) n.217A>T c.908A>T (p.Lys303Met) c.857A>T (p.Lys286Met) c.959A>T (p.Lys320Met) c.869A>T (p.Lys290Met) c.860A>T (p.Lys287Met) | |
| 3 | g.123325452T>C | CA354218618 | ADCY5 | c.635A>G (p.Lys212Arg) c.923A>G (p.Lys308Arg) c.1958A>G (p.Lys653Arg) n.217A>G c.908A>G (p.Lys303Arg) c.857A>G (p.Lys286Arg) c.959A>G (p.Lys320Arg) c.869A>G (p.Lys290Arg) c.860A>G (p.Lys287Arg) | |
| 3 | g.123325452T>G | CA2577298 | ADCY5 | c.635A>C (p.Lys212Thr) c.923A>C (p.Lys308Thr) c.1958A>C (p.Lys653Thr) n.217A>C c.908A>C (p.Lys303Thr) c.857A>C (p.Lys286Thr) c.959A>C (p.Lys320Thr) c.869A>C (p.Lys290Thr) c.860A>C (p.Lys287Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325452T= | CA1398346291 | ADCY5 | c.635A= (p.Lys212=) c.923A= (p.Lys308=) c.1958A= (p.Lys653=) n.217A= c.908A= (p.Lys303=) c.857A= (p.Lys286=) c.959A= (p.Lys320=) c.869A= (p.Lys290=) c.860A= (p.Lys287=) | |
| 3 | g.123325453T>A | CA354218619 | ADCY5 | c.634A>T (p.Lys212Ter) c.922A>T (p.Lys308Ter) c.1957A>T (p.Lys653Ter) n.216A>T c.907A>T (p.Lys303Ter) c.856A>T (p.Lys286Ter) c.958A>T (p.Lys320Ter) c.868A>T (p.Lys290Ter) c.859A>T (p.Lys287Ter) | dbSNP |
| 3 | g.123325453T>C | CA2577299 | ADCY5 | c.634A>G (p.Lys212Glu) c.922A>G (p.Lys308Glu) c.1957A>G (p.Lys653Glu) n.216A>G c.907A>G (p.Lys303Glu) c.856A>G (p.Lys286Glu) c.958A>G (p.Lys320Glu) c.868A>G (p.Lys290Glu) c.859A>G (p.Lys287Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325453T>G | CA354218620 | ADCY5 | c.634A>C (p.Lys212Gln) c.922A>C (p.Lys308Gln) c.1957A>C (p.Lys653Gln) n.216A>C c.907A>C (p.Lys303Gln) c.856A>C (p.Lys286Gln) c.958A>C (p.Lys320Gln) c.868A>C (p.Lys290Gln) c.859A>C (p.Lys287Gln) | |
| 3 | g.123325453T= | CA1398346292 | ADCY5 | c.634A= (p.Lys212=) c.922A= (p.Lys308=) c.1957A= (p.Lys653=) n.216A= c.907A= (p.Lys303=) c.856A= (p.Lys286=) c.958A= (p.Lys320=) c.868A= (p.Lys290=) c.859A= (p.Lys287=) | |
| 3 | g.123325454C>A | CA354218621 | ADCY5 | c.633G>T (p.Glu211Asp) c.921G>T (p.Glu307Asp) c.1956G>T (p.Glu652Asp) n.215G>T c.906G>T (p.Glu302Asp) c.855G>T (p.Glu285Asp) c.957G>T (p.Glu319Asp) c.867G>T (p.Glu289Asp) c.858G>T (p.Glu286Asp) | |
| 3 | g.123325454C= | CA1398346293 | ADCY5 | c.633G= (p.Glu211=) c.921G= (p.Glu307=) c.1956G= (p.Glu652=) n.215G= c.906G= (p.Glu302=) c.855G= (p.Glu285=) c.957G= (p.Glu319=) c.867G= (p.Glu289=) c.858G= (p.Glu286=) | |
| 3 | g.123325454C>G | CA354218622 | ADCY5 | c.633G>C (p.Glu211Asp) c.921G>C (p.Glu307Asp) c.1956G>C (p.Glu652Asp) n.215G>C c.906G>C (p.Glu302Asp) c.855G>C (p.Glu285Asp) c.957G>C (p.Glu319Asp) c.867G>C (p.Glu289Asp) c.858G>C (p.Glu286Asp) | |
| 3 | g.123325454C>T | CA2577300 | ADCY5 | c.633G>A (p.Glu211=) c.921G>A (p.Glu307=) c.1956G>A (p.Glu652=) n.215G>A c.906G>A (p.Glu302=) c.855G>A (p.Glu285=) c.957G>A (p.Glu319=) c.867G>A (p.Glu289=) c.858G>A (p.Glu286=) | dbSNP ExAC gnomAD v2 |
| 3 | g.123325455T>A | CA354218623 | ADCY5 | c.632A>T (p.Glu211Val) c.920A>T (p.Glu307Val) c.1955A>T (p.Glu652Val) n.214A>T c.905A>T (p.Glu302Val) c.854A>T (p.Glu285Val) c.956A>T (p.Glu319Val) c.866A>T (p.Glu289Val) c.857A>T (p.Glu286Val) | |
| 3 | g.123325455T>C | CA2577301 | ADCY5 | c.632A>G (p.Glu211Gly) c.920A>G (p.Glu307Gly) c.1955A>G (p.Glu652Gly) n.214A>G c.905A>G (p.Glu302Gly) c.854A>G (p.Glu285Gly) c.956A>G (p.Glu319Gly) c.866A>G (p.Glu289Gly) c.857A>G (p.Glu286Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123325455T>G | CA354218624 | ADCY5 | c.632A>C (p.Glu211Ala) c.920A>C (p.Glu307Ala) c.1955A>C (p.Glu652Ala) n.214A>C c.905A>C (p.Glu302Ala) c.854A>C (p.Glu285Ala) c.956A>C (p.Glu319Ala) c.866A>C (p.Glu289Ala) c.857A>C (p.Glu286Ala) | |
| 3 | g.123325455T= | CA1398346294 | ADCY5 | c.632A= (p.Glu211=) c.920A= (p.Glu307=) c.1955A= (p.Glu652=) n.214A= c.905A= (p.Glu302=) c.854A= (p.Glu285=) c.956A= (p.Glu319=) c.866A= (p.Glu289=) c.857A= (p.Glu286=) | |
| 3 | g.123325456C>A | CA354218627 | ADCY5 | c.631G>T (p.Glu211Ter) c.919G>T (p.Glu307Ter) c.1954G>T (p.Glu652Ter) n.213G>T c.904G>T (p.Glu302Ter) c.853G>T (p.Glu285Ter) c.955G>T (p.Glu319Ter) c.865G>T (p.Glu289Ter) c.856G>T (p.Glu286Ter) | dbSNP |
| 3 | g.123325456C= | CA1398346295 | ADCY5 | c.631G= (p.Glu211=) c.919G= (p.Glu307=) c.1954G= (p.Glu652=) n.213G= c.904G= (p.Glu302=) c.853G= (p.Glu285=) c.955G= (p.Glu319=) c.865G= (p.Glu289=) c.856G= (p.Glu286=) | |
| 3 | g.123325456C>G | CA354218626 | ADCY5 | c.631G>C (p.Glu211Gln) c.919G>C (p.Glu307Gln) c.1954G>C (p.Glu652Gln) n.213G>C c.904G>C (p.Glu302Gln) c.853G>C (p.Glu285Gln) c.955G>C (p.Glu319Gln) c.865G>C (p.Glu289Gln) c.856G>C (p.Glu286Gln) | |
| 3 | g.123325456C>T | CA354218625 | ADCY5 | c.631G>A (p.Glu211Lys) c.919G>A (p.Glu307Lys) c.1954G>A (p.Glu652Lys) n.213G>A c.904G>A (p.Glu302Lys) c.853G>A (p.Glu285Lys) c.955G>A (p.Glu319Lys) c.865G>A (p.Glu289Lys) c.856G>A (p.Glu286Lys) | |
| 3 | g.123325457T>A | CA354218628 | ADCY5 | c.630A>T (p.Glu210Asp) c.918A>T (p.Glu306Asp) c.1953A>T (p.Glu651Asp) n.212A>T c.903A>T (p.Glu301Asp) c.852A>T (p.Glu284Asp) c.954A>T (p.Glu318Asp) c.864A>T (p.Glu288Asp) c.855A>T (p.Glu285Asp) | |
| 3 | g.123325457T>C | CA435293394 | ADCY5 | c.630A>G (p.Glu210=) c.918A>G (p.Glu306=) c.1953A>G (p.Glu651=) n.212A>G c.903A>G (p.Glu301=) c.852A>G (p.Glu284=) c.954A>G (p.Glu318=) c.864A>G (p.Glu288=) c.855A>G (p.Glu285=) | ClinVar |
| 3 | g.123325457T>G | CA354218629 | ADCY5 | c.630A>C (p.Glu210Asp) c.918A>C (p.Glu306Asp) c.1953A>C (p.Glu651Asp) n.212A>C c.903A>C (p.Glu301Asp) c.852A>C (p.Glu284Asp) c.954A>C (p.Glu318Asp) c.864A>C (p.Glu288Asp) c.855A>C (p.Glu285Asp) | |
| 3 | g.123325458T>A | CA354218630 | ADCY5 | c.629A>T (p.Glu210Val) c.917A>T (p.Glu306Val) c.1952A>T (p.Glu651Val) n.211A>T c.902A>T (p.Glu301Val) c.851A>T (p.Glu284Val) c.953A>T (p.Glu318Val) c.863A>T (p.Glu288Val) c.854A>T (p.Glu285Val) | |
| 3 | g.123325458T>C | CA354218631 | ADCY5 | c.629A>G (p.Glu210Gly) c.917A>G (p.Glu306Gly) c.1952A>G (p.Glu651Gly) n.211A>G c.902A>G (p.Glu301Gly) c.851A>G (p.Glu284Gly) c.953A>G (p.Glu318Gly) c.863A>G (p.Glu288Gly) c.854A>G (p.Glu285Gly) | |
| 3 | g.123325458T>G | CA354218632 | ADCY5 | c.629A>C (p.Glu210Ala) c.917A>C (p.Glu306Ala) c.1952A>C (p.Glu651Ala) n.211A>C c.902A>C (p.Glu301Ala) c.851A>C (p.Glu284Ala) c.953A>C (p.Glu318Ala) c.863A>C (p.Glu288Ala) c.854A>C (p.Glu285Ala) | dbSNP |
| 3 | g.123325458T= | CA1398346296 | ADCY5 | c.629A= (p.Glu210=) c.917A= (p.Glu306=) c.1952A= (p.Glu651=) n.211A= c.902A= (p.Glu301=) c.851A= (p.Glu284=) c.953A= (p.Glu318=) c.863A= (p.Glu288=) c.854A= (p.Glu285=) | |
| 3 | g.123325459C>A | CA354218633 | ADCY5 | c.628G>T (p.Glu210Ter) c.916G>T (p.Glu306Ter) c.1951G>T (p.Glu651Ter) n.210G>T c.901G>T (p.Glu301Ter) c.850G>T (p.Glu284Ter) c.952G>T (p.Glu318Ter) c.862G>T (p.Glu288Ter) c.853G>T (p.Glu285Ter) | dbSNP |
| 3 | g.123325459C= | CA1398346297 | ADCY5 | c.628G= (p.Glu210=) c.916G= (p.Glu306=) c.1951G= (p.Glu651=) n.210G= c.901G= (p.Glu301=) c.850G= (p.Glu284=) c.952G= (p.Glu318=) c.862G= (p.Glu288=) c.853G= (p.Glu285=) | |
| 3 | g.123325459C>G | CA354218634 | ADCY5 | c.628G>C (p.Glu210Gln) c.916G>C (p.Glu306Gln) c.1951G>C (p.Glu651Gln) n.210G>C c.901G>C (p.Glu301Gln) c.850G>C (p.Glu284Gln) c.952G>C (p.Glu318Gln) c.862G>C (p.Glu288Gln) c.853G>C (p.Glu285Gln) | |
| 3 | g.123325459C>T | CA354218635 | ADCY5 | c.628G>A (p.Glu210Lys) c.916G>A (p.Glu306Lys) c.1951G>A (p.Glu651Lys) n.210G>A c.901G>A (p.Glu301Lys) c.850G>A (p.Glu284Lys) c.952G>A (p.Glu318Lys) c.862G>A (p.Glu288Lys) c.853G>A (p.Glu285Lys) | |
| 3 | g.123325460T>A | CA354218637 | ADCY5 | c.627A>T (p.Lys209Asn) c.915A>T (p.Lys305Asn) c.1950A>T (p.Lys650Asn) n.209A>T c.900A>T (p.Lys300Asn) c.849A>T (p.Lys283Asn) c.951A>T (p.Lys317Asn) c.861A>T (p.Lys287Asn) c.852A>T (p.Lys284Asn) | |
| 3 | g.123325460T>C | CA435293395 | ADCY5 | c.627A>G (p.Lys209=) c.915A>G (p.Lys305=) c.1950A>G (p.Lys650=) n.209A>G c.900A>G (p.Lys300=) c.849A>G (p.Lys283=) c.951A>G (p.Lys317=) c.861A>G (p.Lys287=) c.852A>G (p.Lys284=) | |
| 3 | g.123325460T>G | CA354218636 | ADCY5 | c.627A>C (p.Lys209Asn) c.915A>C (p.Lys305Asn) c.1950A>C (p.Lys650Asn) n.209A>C c.900A>C (p.Lys300Asn) c.849A>C (p.Lys283Asn) c.951A>C (p.Lys317Asn) c.861A>C (p.Lys287Asn) c.852A>C (p.Lys284Asn) | |
| 3 | g.123325461T>A | CA354218638 | ADCY5 | c.626A>T (p.Lys209Ile) c.914A>T (p.Lys305Ile) c.1949A>T (p.Lys650Ile) n.208A>T c.899A>T (p.Lys300Ile) c.848A>T (p.Lys283Ile) c.950A>T (p.Lys317Ile) c.860A>T (p.Lys287Ile) c.851A>T (p.Lys284Ile) | |
| 3 | g.123325461T>C | CA354218639 | ADCY5 | c.626A>G (p.Lys209Arg) c.914A>G (p.Lys305Arg) c.1949A>G (p.Lys650Arg) n.208A>G c.899A>G (p.Lys300Arg) c.848A>G (p.Lys283Arg) c.950A>G (p.Lys317Arg) c.860A>G (p.Lys287Arg) c.851A>G (p.Lys284Arg) | |
| 3 | g.123325461T>G | CA354218640 | ADCY5 | c.626A>C (p.Lys209Thr) c.914A>C (p.Lys305Thr) c.1949A>C (p.Lys650Thr) n.208A>C c.899A>C (p.Lys300Thr) c.848A>C (p.Lys283Thr) c.950A>C (p.Lys317Thr) c.860A>C (p.Lys287Thr) c.851A>C (p.Lys284Thr) | |
| 3 | g.123325462T>A | CA354218641 | ADCY5 | c.625A>T (p.Lys209Ter) c.913A>T (p.Lys305Ter) c.1948A>T (p.Lys650Ter) n.207A>T c.898A>T (p.Lys300Ter) c.847A>T (p.Lys283Ter) c.949A>T (p.Lys317Ter) c.859A>T (p.Lys287Ter) c.850A>T (p.Lys284Ter) | dbSNP |
| 3 | g.123325462T>C | CA354218642 | ADCY5 | c.625A>G (p.Lys209Glu) c.913A>G (p.Lys305Glu) c.1948A>G (p.Lys650Glu) n.207A>G c.898A>G (p.Lys300Glu) c.847A>G (p.Lys283Glu) c.949A>G (p.Lys317Glu) c.859A>G (p.Lys287Glu) c.850A>G (p.Lys284Glu) | dbSNP |
| 3 | g.123325462T>G | CA354218643 | ADCY5 | c.625A>C (p.Lys209Gln) c.913A>C (p.Lys305Gln) c.1948A>C (p.Lys650Gln) n.207A>C c.898A>C (p.Lys300Gln) c.847A>C (p.Lys283Gln) c.949A>C (p.Lys317Gln) c.859A>C (p.Lys287Gln) c.850A>C (p.Lys284Gln) | |
| 3 | g.123325462T= | CA1398346298 | ADCY5 | c.625A= (p.Lys209=) c.913A= (p.Lys305=) c.1948A= (p.Lys650=) n.207A= c.898A= (p.Lys300=) c.847A= (p.Lys283=) c.949A= (p.Lys317=) c.859A= (p.Lys287=) c.850A= (p.Lys284=) | |
| 3 | g.123325463C>A | CA354218644 | ADCY5 | c.625-1G>T (n.625-1G>T) c.913-1G>T (n.913-1G>T) c.1948-1G>T (n.1948-1G>T) n.207-1G>T c.898-1G>T (n.898-1G>T) c.847-1G>T (n.847-1G>T) c.949-1G>T (n.949-1G>T) c.859-1G>T (n.859-1G>T) c.850-1G>T (n.850-1G>T) | |
| 3 | g.123325463C>G | CA354218646 | ADCY5 | c.625-1G>C (n.625-1G>C) c.913-1G>C (n.913-1G>C) c.1948-1G>C (n.1948-1G>C) n.207-1G>C c.898-1G>C (n.898-1G>C) c.847-1G>C (n.847-1G>C) c.949-1G>C (n.949-1G>C) c.859-1G>C (n.859-1G>C) c.850-1G>C (n.850-1G>C) | |
| 3 | g.123325463C>T | CA354218645 | ADCY5 | c.625-1G>A (n.625-1G>A) c.913-1G>A (n.913-1G>A) c.1948-1G>A (n.1948-1G>A) n.207-1G>A c.898-1G>A (n.898-1G>A) c.847-1G>A (n.847-1G>A) c.949-1G>A (n.949-1G>A) c.859-1G>A (n.859-1G>A) c.850-1G>A (n.850-1G>A) | |
| 3 | g.123325464T>A | CA354218647 | ADCY5 | c.625-2A>T (n.625-2A>T) c.913-2A>T (n.913-2A>T) c.1948-2A>T (n.1948-2A>T) n.207-2A>T c.898-2A>T (n.898-2A>T) c.847-2A>T (n.847-2A>T) c.949-2A>T (n.949-2A>T) c.859-2A>T (n.859-2A>T) c.850-2A>T (n.850-2A>T) | |
| 3 | g.123325464T>C | CA354218648 | ADCY5 | c.625-2A>G (n.625-2A>G) c.913-2A>G (n.913-2A>G) c.1948-2A>G (n.1948-2A>G) n.207-2A>G c.898-2A>G (n.898-2A>G) c.847-2A>G (n.847-2A>G) c.949-2A>G (n.949-2A>G) c.859-2A>G (n.859-2A>G) c.850-2A>G (n.850-2A>G) | gnomAD v4 |
| 3 | g.123325464T>G | CA354218649 | ADCY5 | c.625-2A>C (n.625-2A>C) c.913-2A>C (n.913-2A>C) c.1948-2A>C (n.1948-2A>C) n.207-2A>C c.898-2A>C (n.898-2A>C) c.847-2A>C (n.847-2A>C) c.949-2A>C (n.949-2A>C) c.859-2A>C (n.859-2A>C) c.850-2A>C (n.850-2A>C) | |
| 3 | g.123325464_123325473del | CA2586972842 | ADCY5 | c.625-11_625-2del (n.625-11_625-2del) c.913-11_913-2del (n.913-11_913-2del) c.1948-11_1948-2del (n.1948-11_1948-2del) n.207-11_207-2del c.898-11_898-2del (n.898-11_898-2del) c.847-11_847-2del (n.847-11_847-2del) c.949-11_949-2del (n.949-11_949-2del) c.859-11_859-2del (n.859-11_859-2del) c.850-11_850-2del (n.850-11_850-2del) | |
| 3 | g.123325465G>A | CA82899441 | ADCY5 | c.625-3C>T (n.625-3C>T) c.913-3C>T (n.913-3C>T) c.1948-3C>T (n.1948-3C>T) n.207-3C>T c.898-3C>T (n.898-3C>T) c.847-3C>T (n.847-3C>T) c.949-3C>T (n.949-3C>T) c.859-3C>T (n.859-3C>T) c.850-3C>T (n.850-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123325465G= | CA1398346299 | ADCY5 | c.625-3C= (n.625-3C=) c.913-3C= (n.913-3C=) c.1948-3C= (n.1948-3C=) n.207-3C= c.898-3C= (n.898-3C=) c.847-3C= (n.847-3C=) c.949-3C= (n.949-3C=) c.859-3C= (n.859-3C=) c.850-3C= (n.850-3C=) | |
| 3 | g.123325465G>T | CA2580617516 | ADCY5 | c.625-3C>A (n.625-3C>A) c.913-3C>A (n.913-3C>A) c.1948-3C>A (n.1948-3C>A) n.207-3C>A c.898-3C>A (n.898-3C>A) c.847-3C>A (n.847-3C>A) c.949-3C>A (n.949-3C>A) c.859-3C>A (n.859-3C>A) c.850-3C>A (n.850-3C>A) | ClinVar |
| 3 | g.123325466G>A | CA82899446 | ADCY5 | c.625-4C>T (n.625-4C>T) c.913-4C>T (n.913-4C>T) c.1948-4C>T (n.1948-4C>T) n.207-4C>T c.898-4C>T (n.898-4C>T) c.847-4C>T (n.847-4C>T) c.949-4C>T (n.949-4C>T) c.859-4C>T (n.859-4C>T) c.850-4C>T (n.850-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325466G>C | CA2667293684 | ADCY5 | c.625-4C>G (n.625-4C>G) c.913-4C>G (n.913-4C>G) c.1948-4C>G (n.1948-4C>G) n.207-4C>G c.898-4C>G (n.898-4C>G) c.847-4C>G (n.847-4C>G) c.949-4C>G (n.949-4C>G) c.859-4C>G (n.859-4C>G) c.850-4C>G (n.850-4C>G) | gnomAD v4 |
| 3 | g.123325466G= | CA1398346300 | ADCY5 | c.625-4C= (n.625-4C=) c.913-4C= (n.913-4C=) c.1948-4C= (n.1948-4C=) n.207-4C= c.898-4C= (n.898-4C=) c.847-4C= (n.847-4C=) c.949-4C= (n.949-4C=) c.859-4C= (n.859-4C=) c.850-4C= (n.850-4C=) | |
| 3 | g.123325467A= | CA1398346301 | ADCY5 | c.625-5T= (n.625-5T=) c.913-5T= (n.913-5T=) c.1948-5T= (n.1948-5T=) n.207-5T= c.898-5T= (n.898-5T=) c.847-5T= (n.847-5T=) c.949-5T= (n.949-5T=) c.859-5T= (n.859-5T=) c.850-5T= (n.850-5T=) | |
| 3 | g.123325467A>G | CA545686517 | ADCY5 | c.625-5T>C (n.625-5T>C) c.913-5T>C (n.913-5T>C) c.1948-5T>C (n.1948-5T>C) n.207-5T>C c.898-5T>C (n.898-5T>C) c.847-5T>C (n.847-5T>C) c.949-5T>C (n.949-5T>C) c.859-5T>C (n.859-5T>C) c.850-5T>C (n.850-5T>C) | ClinVar dbSNP gnomAD v2 |
| 3 | g.123325469G>A | CA2577302 | ADCY5 | c.625-7C>T (n.625-7C>T) c.913-7C>T (n.913-7C>T) c.1948-7C>T (n.1948-7C>T) n.207-7C>T c.898-7C>T (n.898-7C>T) c.847-7C>T (n.847-7C>T) c.949-7C>T (n.949-7C>T) c.859-7C>T (n.859-7C>T) c.850-7C>T (n.850-7C>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.123325469G= | CA1398346302 | ADCY5 | c.625-7C= (n.625-7C=) c.913-7C= (n.913-7C=) c.1948-7C= (n.1948-7C=) n.207-7C= c.898-7C= (n.898-7C=) c.847-7C= (n.847-7C=) c.949-7C= (n.949-7C=) c.859-7C= (n.859-7C=) c.850-7C= (n.850-7C=) | |
| 3 | g.123325469G>T | CA2667293685 | ADCY5 | c.625-7C>A (n.625-7C>A) c.913-7C>A (n.913-7C>A) c.1948-7C>A (n.1948-7C>A) n.207-7C>A c.898-7C>A (n.898-7C>A) c.847-7C>A (n.847-7C>A) c.949-7C>A (n.949-7C>A) c.859-7C>A (n.859-7C>A) c.850-7C>A (n.850-7C>A) | gnomAD v4 |
| 3 | g.123325470A>G | CA2758206420 | ADCY5 | c.625-8T>C (n.625-8T>C) c.913-8T>C (n.913-8T>C) c.1948-8T>C (n.1948-8T>C) n.207-8T>C c.898-8T>C (n.898-8T>C) c.847-8T>C (n.847-8T>C) c.949-8T>C (n.949-8T>C) c.859-8T>C (n.859-8T>C) c.850-8T>C (n.850-8T>C) | |
| 3 | g.123325471C>A | CA2571933559 | ADCY5 | c.625-9G>T (n.625-9G>T) c.913-9G>T (n.913-9G>T) c.1948-9G>T (n.1948-9G>T) n.207-9G>T c.898-9G>T (n.898-9G>T) c.847-9G>T (n.847-9G>T) c.949-9G>T (n.949-9G>T) c.859-9G>T (n.859-9G>T) c.850-9G>T (n.850-9G>T) | |
| 3 | g.123325471C= | CA1398346303 | ADCY5 | c.625-9G= (n.625-9G=) c.913-9G= (n.913-9G=) c.1948-9G= (n.1948-9G=) n.207-9G= c.898-9G= (n.898-9G=) c.847-9G= (n.847-9G=) c.949-9G= (n.949-9G=) c.859-9G= (n.859-9G=) c.850-9G= (n.850-9G=) | |
| 3 | g.123325471C>T | CA2577303 | ADCY5 | c.625-9G>A (n.625-9G>A) c.913-9G>A (n.913-9G>A) c.1948-9G>A (n.1948-9G>A) n.207-9G>A c.898-9G>A (n.898-9G>A) c.847-9G>A (n.847-9G>A) c.949-9G>A (n.949-9G>A) c.859-9G>A (n.859-9G>A) c.850-9G>A (n.850-9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325472G>A | CA2577304 | ADCY5 | c.625-10C>T (n.625-10C>T) c.913-10C>T (n.913-10C>T) c.1948-10C>T (n.1948-10C>T) n.207-10C>T c.898-10C>T (n.898-10C>T) c.847-10C>T (n.847-10C>T) c.949-10C>T (n.949-10C>T) c.859-10C>T (n.859-10C>T) c.850-10C>T (n.850-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123325472G>C | CA1053006047 | ADCY5 | c.625-10C>G (n.625-10C>G) c.913-10C>G (n.913-10C>G) c.1948-10C>G (n.1948-10C>G) n.207-10C>G c.898-10C>G (n.898-10C>G) c.847-10C>G (n.847-10C>G) c.949-10C>G (n.949-10C>G) c.859-10C>G (n.859-10C>G) c.850-10C>G (n.850-10C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123325472G= | CA1398346304 | ADCY5 | c.625-10C= (n.625-10C=) c.913-10C= (n.913-10C=) c.1948-10C= (n.1948-10C=) n.207-10C= c.898-10C= (n.898-10C=) c.847-10C= (n.847-10C=) c.949-10C= (n.949-10C=) c.859-10C= (n.859-10C=) c.850-10C= (n.850-10C=) | |
| 3 | g.123325475C>T | CA2667293686 | ADCY5 | c.625-13G>A (n.625-13G>A) c.913-13G>A (n.913-13G>A) c.1948-13G>A (n.1948-13G>A) n.207-13G>A c.898-13G>A (n.898-13G>A) c.847-13G>A (n.847-13G>A) c.949-13G>A (n.949-13G>A) c.859-13G>A (n.859-13G>A) c.850-13G>A (n.850-13G>A) | gnomAD v4 |
| 3 | g.123325476A= | CA1398346305 | ADCY5 | c.625-14T= (n.625-14T=) c.913-14T= (n.913-14T=) c.1948-14T= (n.1948-14T=) n.207-14T= c.898-14T= (n.898-14T=) c.847-14T= (n.847-14T=) c.949-14T= (n.949-14T=) c.859-14T= (n.859-14T=) c.850-14T= (n.850-14T=) | |
| 3 | g.123325476A>G | CA1398346306 | ADCY5 | c.625-14T>C (n.625-14T>C) c.913-14T>C (n.913-14T>C) c.1948-14T>C (n.1948-14T>C) n.207-14T>C c.898-14T>C (n.898-14T>C) c.847-14T>C (n.847-14T>C) c.949-14T>C (n.949-14T>C) c.859-14T>C (n.859-14T>C) c.850-14T>C (n.850-14T>C) | dbSNP gnomAD v4 |