| 基因名 | 突变 |
|---|---|
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219688556C>T,c.1399G>A,p.V467M |
| PRKAG3(NM_017431,protein kinase, AMP-activated, gamma 3 non-catalytic subunit,489aa) | g.2:219688502C>T,c.1453G>A,p.D485N |
| PRKAG2(NM_016203,protein kinase, AMP-activated, gamma 2 non-catalytic subunit,569aa) | g.7:151483612C>T,c.130G>A,p.A44T |
| PRKAG2(NM_016203,protein kinase, AMP-activated, gamma 2 non-catalytic subunit,569aa) | g.7:151478453C>T,c.251G>A,p.R84Q |
| PRKAG2(NM_016203,protein kinase, AMP-activated, gamma 2 non-catalytic subunit,569aa) | g.7:151478406C>T,c.298G>A,p.G100S |
| PRKAG2(NM_016203,protein kinase, AMP-activated, gamma 2 non-catalytic subunit,569aa) | g.7:151372573G>A,c.617C>T,p.P206L |
| PRKAG2(NM_016203,protein kinase, AMP-activated, gamma 2 non-catalytic subunit,569aa) | g.7:151261273A>T,c.1475T>A,p.I492N |
| PRKAG1(NM_001206710,protein kinase, AMP-activated, gamma 1 non-catalytic subunit,299aa) | g.12:49399132G>C,c.170C>G,p.T57S |
| PRKAG1(NM_001206710,protein kinase, AMP-activated, gamma 1 non-catalytic subunit,299aa) | g.12:49398388G>A,c.343C>T,p.R115W |
| PRKAG1(NM_001206710,protein kinase, AMP-activated, gamma 1 non-catalytic subunit,299aa) | g.12:49397602T>C,c.545A>G,p.Y182C |
| PRKACG(NM_002732,protein kinase, cAMP-dependent, catalytic, gamma,351aa) | g.9:71628257A>T,c.752T>A,p.I251N |
| PRKACG(NM_002732,protein kinase, cAMP-dependent, catalytic, gamma,351aa) | g.9:71628213G>A,c.796C>T,p.L266F |
| PRKACG(NM_002732,protein kinase, cAMP-dependent, catalytic, gamma,351aa) | g.9:71628207G>C,c.802C>G,p.H268D |
| PRKACB(NM_002731,protein kinase, cAMP-dependent, catalytic, beta,351aa) | g.1:84544027G>C,c.19G>C,p.A7P |
| PRKACA(NM_002730,protein kinase, cAMP-dependent, catalytic, alpha,351aa) | g.19:14204444C>T,c.926G>A,p.R309K |
| PRKAB1(NM_006253,protein kinase, AMP-activated, beta 1 non-catalytic subunit,270aa) | g.12:120114465C>T,c.656C>T,p.T219M |
| PRKAB1(NM_006253,protein kinase, AMP-activated, beta 1 non-catalytic subunit,270aa) | g.12:120114398G>A,c.589G>A,p.E197K |
| PRKAB1(NM_006253,protein kinase, AMP-activated, beta 1 non-catalytic subunit,270aa) | g.12:120110179G>A,c.233G>A,p.R78Q |
| PRKAA1(NM_206907,protein kinase, AMP-activated, alpha 1 catalytic subunit,574aa) | g.5:40798234C>G,c.58G>C,p.G20R |
| PRKAA1(NM_206907,protein kinase, AMP-activated, alpha 1 catalytic subunit,574aa) | g.5:40764876T>C,c.1331A>G,p.K444R |
| PRKAA1(NM_206907,protein kinase, AMP-activated, alpha 1 catalytic subunit,574aa) | g.5:40763109G>C,c.1496C>G,p.A499G |
| PRIMA1(NM_178013,proline rich membrane anchor 1,153aa) | g.14:94187801C>T,c.451G>A,p.A151T |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57512565T>C,c.1393T>C,p.S465P |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57512529C>A,c.1357C>A,p.R453S |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57512510T>G,c.1338T>G,p.H446Q |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57512476G>A,c.1304G>A,p.G435D |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57472406C>G,c.1195C>G,p.Q399E |
| PRIM2(NM_000947,primase, DNA, polypeptide 2 (58kDa),509aa) | g.6:57467107C>T,c.1048C>T,p.R350C |