| 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.68522764A>C | CA501527559 | PRKAR1A | c.186A>C (p.Ala62=) n.305A>C n.319A>C c.176A>C (p.Gln59Pro) n.311A>C | |
| 17 | g.68522764A>G | CA501527560 | PRKAR1A | c.186A>G (p.Ala62=) n.305A>G n.319A>G c.176A>G (p.Gln59Arg) n.311A>G | |
| 17 | g.68522764A>T | CA501527561 | PRKAR1A | c.186A>T (p.Ala62=) n.305A>T n.319A>T c.176A>T (p.Gln59Leu) n.311A>T | |
| 17 | g.68522765A>C | CA400752171 | PRKAR1A | c.187A>C (p.Lys63Gln) n.306A>C n.320A>C c.177A>C (p.Gln59His) n.312A>C | |
| 17 | g.68522765A>G | CA400752173 | PRKAR1A | c.187A>G (p.Lys63Glu) n.306A>G n.320A>G c.177A>G (p.Gln59=) n.312A>G | ClinVar |
| 17 | g.68522765A>T | CA400752172 | PRKAR1A | c.187A>T (p.Lys63Ter) n.306A>T n.320A>T c.177A>T (p.Gln59His) n.312A>T | |
| 17 | g.68522766A>C | CA400752174 | PRKAR1A | c.188A>C (p.Lys63Thr) n.307A>C n.321A>C c.178A>C (p.Asn60His) n.313A>C | |
| 17 | g.68522766A>G | CA400752175 | PRKAR1A | c.188A>G (p.Lys63Arg) n.307A>G n.321A>G c.178A>G (p.Asn60Asp) n.313A>G | |
| 17 | g.68522766A>T | CA400752176 | PRKAR1A | c.188A>T (p.Lys63Ile) n.307A>T n.321A>T c.178A>T (p.Asn60Tyr) n.313A>T | |
| 17 | g.68522767A= | CA2272255745 | PRKAR1A | c.189A= (p.Lys63=) n.308A= n.322A= c.179A= (p.Asn60=) n.314A= | |
| 17 | g.68522767A>C | CA400752177 | PRKAR1A | c.189A>C (p.Lys63Asn) n.308A>C n.322A>C c.179A>C (p.Asn60Thr) n.314A>C | |
| 17 | g.68522767A>G | CA16615667 | PRKAR1A | c.189A>G (p.Lys63=) n.308A>G n.322A>G c.179A>G (p.Asn60Ser) n.314A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.68522767A>T | CA400752178 | PRKAR1A | c.189A>T (p.Lys63Asn) n.308A>T n.322A>T c.179A>T (p.Asn60Ile) n.314A>T | |
| 17 | g.68522768C>A | CA400752179 | PRKAR1A | c.190C>A (p.Gln64Lys) n.309C>A n.323C>A c.180C>A (p.Asn60Lys) n.315C>A | |
| 17 | g.68522768C>G | CA400752180 | PRKAR1A | c.190C>G (p.Gln64Glu) n.309C>G n.323C>G c.180C>G (p.Asn60Lys) n.315C>G | |
| 17 | g.68522768C>T | CA400752181 | PRKAR1A | c.190C>T (p.Gln64Ter) n.309C>T n.323C>T c.180C>T (p.Asn60=) n.315C>T | |
| 17 | g.68522768_68522781del | CA2573154759 | PRKAR1A | c.190_203del (p.Gln64AlafsTer13) n.309_322del n.323_336del c.180_193del (p.Asn60LysfsTer?) n.315_328del | ClinVar dbSNP |
| 17 | g.68522769A>C | CA400752182 | PRKAR1A | c.191A>C (p.Gln64Pro) n.310A>C n.324A>C c.181A>C (p.Arg61=) n.316A>C | |
| 17 | g.68522769A>G | CA400752183 | PRKAR1A | c.191A>G (p.Gln64Arg) n.310A>G n.324A>G c.181A>G (p.Arg61Gly) n.316A>G | |
| 17 | g.68522769A>T | CA400752184 | PRKAR1A | c.191A>T (p.Gln64Leu) n.310A>T n.324A>T c.181A>T (p.Arg61Ter) n.316A>T | |
| 17 | g.68522770G>A | CA501527562 | PRKAR1A | c.192G>A (p.Gln64=) n.311G>A n.325G>A c.182G>A (p.Arg61Lys) n.317G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.68522770G>C | CA400752186 | PRKAR1A | c.192G>C (p.Gln64His) n.311G>C n.325G>C c.182G>C (p.Arg61Thr) n.317G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.68522770G= | CA2272255746 | PRKAR1A | c.192G= (p.Gln64=) n.311G= n.325G= c.182G= (p.Arg61=) n.317G= | |
| 17 | g.68522770G>T | CA400752185 | PRKAR1A | c.192G>T (p.Gln64His) n.311G>T n.325G>T c.182G>T (p.Arg61Ile) n.317G>T | |
| 17 | g.68522771A>C | CA400752187 | PRKAR1A | c.193A>C (p.Ile65Leu) n.312A>C n.326A>C c.183A>C (p.Arg61Ser) n.318A>C | |
| 17 | g.68522771A>G | CA400752188 | PRKAR1A | c.193A>G (p.Ile65Val) n.312A>G n.326A>G c.183A>G (p.Arg61=) n.318A>G | |
| 17 | g.68522771A>T | CA400752189 | PRKAR1A | c.193A>T (p.Ile65Phe) n.312A>T n.326A>T c.183A>T (p.Arg61Ser) n.318A>T | |
| 17 | g.68522772T>A | CA400752190 | PRKAR1A | c.194T>A (p.Ile65Asn) n.313T>A n.327T>A c.184T>A (p.Phe62Ile) n.319T>A | |
| 17 | g.68522772T>C | CA400752191 | PRKAR1A | c.194T>C (p.Ile65Thr) n.313T>C n.327T>C c.184T>C (p.Phe62Leu) n.319T>C | |
| 17 | g.68522772T>G | CA400752192 | PRKAR1A | c.194T>G (p.Ile65Ser) n.313T>G n.327T>G c.184T>G (p.Phe62Val) n.319T>G | |
| 17 | g.68522773T>A | CA501527563 | PRKAR1A | c.195T>A (p.Ile65=) n.314T>A n.328T>A c.185T>A (p.Phe62Tyr) n.320T>A | gnomAD v4 |
| 17 | g.68522773T>C | CA501527564 | PRKAR1A | c.195T>C (p.Ile65=) n.314T>C n.328T>C c.185T>C (p.Phe62Ser) n.320T>C | |
| 17 | g.68522773T>G | CA400752193 | PRKAR1A | c.195T>G (p.Ile65Met) n.314T>G n.328T>G c.185T>G (p.Phe62Cys) n.320T>G | ClinVar |
| 17 | g.68522774C>A | CA400752196 | PRKAR1A | c.196C>A (p.Gln66Lys) n.315C>A n.329C>A c.186C>A (p.Phe62Leu) n.321C>A c.196C>A | ClinVar dbSNP |
| 17 | g.68522774C= | CA2272255747 | PRKAR1A | c.196C= (p.Gln66=) n.315C= n.329C= c.186C= (p.Phe62=) n.321C= c.196C= | |
| 17 | g.68522774C>G | CA400752194 | PRKAR1A | c.196C>G (p.Gln66Glu) n.315C>G n.329C>G c.186C>G (p.Phe62Leu) n.321C>G c.196C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.68522774C>T | CA400752195 | PRKAR1A | c.196C>T (p.Gln66Ter) n.315C>T n.329C>T c.186C>T (p.Phe62=) n.321C>T c.196C>T | |
| 17 | g.68522775A>C | CA400752197 | PRKAR1A | c.197A>C (p.Gln66Pro) n.316A>C n.330A>C c.187A>C (p.Arg63=) n.322A>C | |
| 17 | g.68522775A>G | CA400752198 | PRKAR1A | c.197A>G (p.Gln66Arg) n.316A>G n.330A>G c.187A>G (p.Arg63Gly) n.322A>G | |
| 17 | g.68522775A>T | CA400752199 | PRKAR1A | c.197A>T (p.Gln66Leu) n.316A>T n.330A>T c.187A>T (p.Arg63Ter) n.322A>T | |
| 17 | g.68522776G>A | CA501527565 | PRKAR1A | c.198G>A (p.Gln66=) n.317G>A n.331G>A c.188G>A (p.Arg63Lys) n.323G>A | ClinVar dbSNP |
| 17 | g.68522776G>C | CA400752200 | PRKAR1A | c.198G>C (p.Gln66His) n.317G>C n.331G>C c.188G>C (p.Arg63Thr) n.323G>C | |
| 17 | g.68522776G= | CA2272255748 | PRKAR1A | c.198G= (p.Gln66=) n.317G= n.331G= c.188G= (p.Arg63=) n.323G= | |
| 17 | g.68522776G>T | CA400752201 | PRKAR1A | c.198G>T (p.Gln66His) n.317G>T n.331G>T c.188G>T (p.Arg63Ile) n.323G>T | ClinVar |
| 17 | g.68522777A>C | CA400752202 | PRKAR1A | c.199A>C (p.Asn67His) n.318A>C n.332A>C c.189A>C (p.Arg63Ser) n.324A>C | |
| 17 | g.68522777A>G | CA400752204 | PRKAR1A | c.199A>G (p.Asn67Asp) n.318A>G n.332A>G c.189A>G (p.Arg63=) n.324A>G | |
| 17 | g.68522777A>T | CA400752203 | PRKAR1A | c.199A>T (p.Asn67Tyr) n.318A>T n.332A>T c.189A>T (p.Arg63Ser) n.324A>T | |
| 17 | g.68522778A>C | CA400752205 | PRKAR1A | c.200A>C (p.Asn67Thr) n.319A>C n.333A>C c.190A>C (p.Ile64Leu) n.325A>C | |
| 17 | g.68522778A>G | CA400752206 | PRKAR1A | c.200A>G (p.Asn67Ser) n.319A>G n.333A>G c.190A>G (p.Ile64Val) n.325A>G | ClinVar dbSNP |