| 基因名 | 突变 |
|---|---|
| PRKCDBP(NM_145040,protein kinase C, delta binding protein,261aa) | g.11:6340405C>G,c.774G>C,p.E258D |
| PRKCB(NM_002738,protein kinase C, beta,673aa) | g.16:24124365A>G,c.893A>G,p.N298S |
| PRKCB(NM_002738,protein kinase C, beta,673aa) | g.16:24046832C>G,c.493C>G,p.Q165E |
| PRKCA(NM_002737,protein kinase C, alpha,672aa) | g.17:64800042G>A,c.1906G>A,p.V636I |
| PRKCA(NM_002737,protein kinase C, alpha,672aa) | g.17:64783081G>A,c.1702G>A,p.V568I |
| PRKCA(NM_002737,protein kinase C, alpha,672aa) | g.17:64685124del,c.877del,p.293fs |
| PRKAR2A(NM_004157,protein kinase, cAMP-dependent, regulatory, type II, alpha,404aa) | g.3:48884873C>A,c.157G>T,p.A53S |
| PRKAR2A(NM_004157,protein kinase, cAMP-dependent, regulatory, type II, alpha,404aa) | g.3:48828011C>T,c.401G>A,p.C134Y |
| PRKAR2A(NM_004157,protein kinase, cAMP-dependent, regulatory, type II, alpha,404aa) | g.3:48810500C>T,c.584G>A,p.R195H |
| PRKAR2A(NM_004157,protein kinase, cAMP-dependent, regulatory, type II, alpha,404aa) | g.3:48789660T>C,c.1030A>G,p.N344D |
| PRKAR2A(NM_004157,protein kinase, cAMP-dependent, regulatory, type II, alpha,404aa) | g.3:48789026C>T,c.1207G>A,p.G403R |
| PRKAR1B(NM_001164761,protein kinase, cAMP-dependent, regulatory, type I, beta,381aa) | g.7:751025T>C,c.118A>G,p.I40V |
| PRKAR1B(NM_001164761,protein kinase, cAMP-dependent, regulatory, type I, beta,381aa) | g.7:720341G>A,c.200C>T,p.A67V |
| PRKAR1B(NM_001164761,protein kinase, cAMP-dependent, regulatory, type I, beta,381aa) | g.7:720338C>T,c.203G>A,p.R68Q |
| PRKAR1B(NM_001164761,protein kinase, cAMP-dependent, regulatory, type I, beta,381aa) | g.7:720326T>C,c.215A>G,p.N72S |
| PRKAR1B(NM_001164761,protein kinase, cAMP-dependent, regulatory, type I, beta,381aa) | g.7:716891C>A,c.415G>T,p.A139S |
| PRKAR1B(NM_001164761,protein kinase, cAMP-dependent, regulatory, type I, beta,381aa) | g.7:591062C>T,c.937G>A,p.V313M |
| PRKAR1B(NM_001164761,protein kinase, cAMP-dependent, regulatory, type I, beta,381aa) | g.7:590215C>T,c.998G>A,p.R333Q |
| PRKAR1A(NM_212471,protein kinase, cAMP-dependent, regulatory, type I, alpha,381aa) | g.17:66521899A>G,c.554A>G,p.Y185C |
| PRKAR1A(NM_212471,protein kinase, cAMP-dependent, regulatory, type I, alpha,381aa) | g.17:66518940G>A,c.221G>A,p.R74H |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219696465C>T,c.29G>A,p.R10H |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219695487G>C,c.211C>G,p.P71A |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219694877G>C,c.457C>G,p.L153V |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219694811C>T,c.523G>A,p.E175K |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219693290C>T,c.667G>A,p.G223S |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219692747G>A,c.754C>T,p.R252C |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219692597T>C,c.779A>G,p.Q260R |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219691801G>A,c.1018C>T,p.R340W |