| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.68522757_68522927del | CA344429 | PRKAR1A | c.179_348+1del n.298_467+1del n.312_481+1del c.169_338+1del n.304_473+1del | ClinVar |
| 17 | g.68522793_68522804del | CA2580095035 | PRKAR1A | c.215_226del (p.Gly72_Thr75del) n.334_345del n.348_359del c.205_216del (p.Ala69_Gln72del) n.340_351del | ClinVar |
| 17 | g.68522790_68522825delinsCAGGCACTCGTACAGACTCAAGGGAGGATGAGATTT | CA2272255753 | PRKAR1A | c.212_247delinsCAGGCACTCGTACAGACTCAAGGGAGGATGAGATTT (p.Ala71=) n.331_366delinsCAGGCACTCGTACAGACTCAAGGGAGGATGAGATTT n.345_380delinsCAGGCACTCGTACAGACTCAAGGGAGGATGAGATTT c.202_237delinsCAGGCACTCGTACAGACTCAAGGGAGGATGAGATTT (p.Gln68=) n.337_372delinsCAGGCACTCGTACAGACTCAAGGGAGGATGAGATTT | |
| 17 | g.68522791_68522825del | CA16620591 | PRKAR1A | c.213_247del (p.Gly72SerfsTer9) n.332_366del n.346_380del c.203_237del (p.Gln68ProfsTer?) n.338_372del | ClinVar dbSNP |
| 17 | g.68522794_68522804delinsCACTCGTACAG | CA2272255756 | PRKAR1A | c.216_226delinsCACTCGTACAG (p.Gly72=) n.335_345delinsCACTCGTACAG n.349_359delinsCACTCGTACAG c.206_216delinsCACTCGTACAG (p.Ala69=) n.341_351delinsCACTCGTACAG | |
| 17 | g.68522799_68522808del | CA1139665856 | PRKAR1A | c.221_230del (p.Arg74GlnfsTer?) n.340_349del n.354_363del c.211_220del (p.Val71LysfsTer4) n.346_355del | ClinVar dbSNP |
| 17 | g.68522799_68522831del | CA2573154760 | PRKAR1A | c.221_253del (p.Arg74_Pro84del) n.340_372del n.354_386del c.211_243del (p.Val71_Leu81del) n.346_378del | ClinVar dbSNP |
| 17 | g.68522798C>A | CA400752247 | PRKAR1A | c.220C>A (p.Arg74Ser) n.339C>A n.353C>A c.210C>A (p.Leu70=) n.345C>A | gnomAD v4 |
| 17 | g.68522798C= | CA2272255760 | PRKAR1A | c.220C= (p.Arg74=) n.339C= n.353C= c.210C= (p.Leu70=) n.345C= | |
| 17 | g.68522798C>G | CA400752248 | PRKAR1A | c.220C>G (p.Arg74Gly) n.339C>G n.353C>G c.210C>G (p.Leu70=) n.345C>G | |
| 17 | g.68522798C>T | CA256533 | PRKAR1A | c.220C>T (p.Arg74Cys) n.339C>T n.353C>T c.210C>T (p.Leu70=) n.345C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.68522798_68522799del | CA2695226838 | PRKAR1A | c.220_221del (p.Arg74TyrfsTer7) n.339_340del n.353_354del c.210_211del (p.Val71ThrfsTer?) n.345_346del | |
| 17 | g.68522799G>A | CA8729195 | PRKAR1A | c.221G>A (p.Arg74His) n.340G>A n.354G>A c.211G>A (p.Val71Ile) n.346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.68522799G>C | CA400752249 | PRKAR1A | c.221G>C (p.Arg74Pro) n.340G>C n.354G>C c.211G>C (p.Val71Leu) n.346G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.68522799G= | CA2272255761 | PRKAR1A | c.221G= (p.Arg74=) n.340G= n.354G= c.211G= (p.Val71=) n.346G= | |
| 17 | g.68522799G>T | CA400752250 | PRKAR1A | c.221G>T (p.Arg74Leu) n.340G>T n.354G>T c.211G>T (p.Val71Leu) n.346G>T | |
| 17 | g.68522800T>A | CA501527583 | PRKAR1A | c.222T>A (p.Arg74=) n.341T>A n.355T>A c.212T>A (p.Val71Glu) n.347T>A | |
| 17 | g.68522800T>C | CA501527581 | PRKAR1A | c.222T>C (p.Arg74=) n.341T>C n.355T>C c.212T>C (p.Val71Ala) n.347T>C | |
| 17 | g.68522800T>G | CA501527582 | PRKAR1A | c.222T>G (p.Arg74=) n.341T>G n.355T>G c.212T>G (p.Val71Gly) n.347T>G | |
| 17 | g.68522801A= | CA2272255762 | PRKAR1A | c.223A= (p.Thr75=) n.342A= n.356A= c.213A= (p.Val71=) n.348A= | |
| 17 | g.68522801A>C | CA400752251 | PRKAR1A | c.223A>C (p.Thr75Pro) n.342A>C n.356A>C c.213A>C (p.Val71=) n.348A>C | |
| 17 | g.68522801A>G | CA400752252 | PRKAR1A | c.223A>G (p.Thr75Ala) n.342A>G n.356A>G c.213A>G (p.Val71=) n.348A>G | dbSNP gnomAD v4 |
| 17 | g.68522801A>T | CA400752253 | PRKAR1A | c.223A>T (p.Thr75Ser) n.342A>T n.356A>T c.213A>T (p.Val71=) n.348A>T | |
| 17 | g.68522802_68522803del | CA2695226839 | PRKAR1A | c.224_225del (p.Thr75ArgfsTer6) n.343_344del n.357_358del c.214_215del (p.Gln72AspfsTer?) n.349_350del | |
| 17 | g.68522801_68522802insATGATAGTCTATCT | CA2734025191 | PRKAR1A | c.223_224insATGATAGTCTATCT (p.Thr75AsnfsTer?) n.342_343insATGATAGTCTATCT n.356_357insATGATAGTCTATCT c.213_214insATGATAGTCTATCT (p.Gln72MetfsTer11) n.348_349insATGATAGTCTATCT | dbSNP |
| 17 | g.68522802C>A | CA400752254 | PRKAR1A | c.224C>A (p.Thr75Lys) n.343C>A n.357C>A c.214C>A (p.Gln72Lys) n.349C>A | |
| 17 | g.68522802C= | CA2272255763 | PRKAR1A | c.224C= (p.Thr75=) n.343C= n.357C= c.214C= (p.Gln72=) n.349C= | |
| 17 | g.68522802C>G | CA400752255 | PRKAR1A | c.224C>G (p.Thr75Arg) n.343C>G n.357C>G c.214C>G (p.Gln72Glu) n.349C>G | |
| 17 | g.68522802C>T | CA400752256 | PRKAR1A | c.224C>T (p.Thr75Ile) n.343C>T n.357C>T c.214C>T (p.Gln72Ter) n.349C>T | dbSNP |
| 17 | g.68522803A>C | CA501527584 | PRKAR1A | c.225A>C (p.Thr75=) n.344A>C n.358A>C c.215A>C (p.Gln72Pro) n.350A>C | |
| 17 | g.68522803A>G | CA501527586 | PRKAR1A | c.225A>G (p.Thr75=) n.344A>G n.358A>G c.215A>G (p.Gln72Arg) n.350A>G | ClinVar gnomAD v4 |
| 17 | g.68522803A>T | CA501527585 | PRKAR1A | c.225A>T (p.Thr75=) n.344A>T n.358A>T c.215A>T (p.Gln72Leu) n.350A>T | |
| 17 | g.68522804G>A | CA400752259 | PRKAR1A | c.226G>A (p.Asp76Asn) n.345G>A n.359G>A c.216G>A (p.Gln72=) n.351G>A | |
| 17 | g.68522804G>C | CA400752258 | PRKAR1A | c.226G>C (p.Asp76His) n.345G>C n.359G>C c.216G>C (p.Gln72His) n.351G>C | gnomAD v4 |
| 17 | g.68522804G>T | CA400752257 | PRKAR1A | c.226G>T (p.Asp76Tyr) n.345G>T n.359G>T c.216G>T (p.Gln72His) n.351G>T | |
| 17 | g.68522805A>C | CA400752260 | PRKAR1A | c.227A>C (p.Asp76Ala) n.346A>C n.360A>C c.217A>C (p.Thr73Pro) n.352A>C | |
| 17 | g.68522805A>G | CA400752261 | PRKAR1A | c.227A>G (p.Asp76Gly) n.346A>G n.360A>G c.217A>G (p.Thr73Ala) n.352A>G | ClinVar |
| 17 | g.68522805A>T | CA400752262 | PRKAR1A | c.227A>T (p.Asp76Val) n.346A>T n.360A>T c.217A>T (p.Thr73Ser) n.352A>T | |
| 17 | g.68522806C>A | CA400752263 | PRKAR1A | c.228C>A (p.Asp76Glu) n.347C>A n.361C>A c.218C>A (p.Thr73Asn) n.353C>A | dbSNP |
| 17 | g.68522806C= | CA2272255764 | PRKAR1A | c.228C= (p.Asp76=) n.347C= n.361C= c.218C= (p.Thr73=) n.353C= | |
| 17 | g.68522806C>G | CA400752264 | PRKAR1A | c.228C>G (p.Asp76Glu) n.347C>G n.361C>G c.218C>G (p.Thr73Ser) n.353C>G | dbSNP |
| 17 | g.68522806C>T | CA501527587 | PRKAR1A | c.228C>T (p.Asp76=) n.347C>T n.361C>T c.218C>T (p.Thr73Ile) n.353C>T | |
| 17 | g.68522807T>A | CA400752265 | PRKAR1A | c.229T>A (p.Ser77Thr) n.348T>A n.362T>A c.219T>A (p.Thr73=) n.354T>A | ClinVar dbSNP |
| 17 | g.68522807T>C | CA400752266 | PRKAR1A | c.229T>C (p.Ser77Pro) n.348T>C n.362T>C c.219T>C (p.Thr73=) n.354T>C | |
| 17 | g.68522807T>G | CA400752267 | PRKAR1A | c.229T>G (p.Ser77Ala) n.348T>G n.362T>G c.219T>G (p.Thr73=) n.354T>G | |
| 17 | g.68522807T= | CA2272255765 | PRKAR1A | c.229T= (p.Ser77=) n.348T= n.362T= c.219T= (p.Thr73=) n.354T= | |
| 17 | g.68522808C>A | CA400752268 | PRKAR1A | c.230C>A (p.Ser77Ter) n.349C>A n.363C>A c.220C>A (p.Gln74Lys) n.355C>A | |
| 17 | g.68522808C>G | CA400752269 | PRKAR1A | c.230C>G (p.Ser77Ter) n.349C>G n.363C>G c.220C>G (p.Gln74Glu) n.355C>G | COSMIC |
| 17 | g.68522808C>T | CA400752270 | PRKAR1A | c.230C>T (p.Ser77Leu) n.349C>T n.363C>T c.220C>T (p.Gln74Ter) n.355C>T | ClinVar gnomAD v4 COSMIC |
| 17 | g.68522809A>C | CA501527588 | PRKAR1A | c.231A>C (p.Ser77=) n.350A>C n.364A>C c.221A>C (p.Gln74Pro) n.356A>C | ClinVar dbSNP |