| 基因名 | 突变 |
|---|---|
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56204796T>G,c.2623A>C,p.T875P |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56204768G>A,c.2651C>T,p.S884L |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56204747G>A,c.2672C>T,p.T891I |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56204671A>T,c.2748T>A,p.N916K |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56204489C>G,c.2930G>C,p.S977T |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56204388_56204402del,c.3017_3031del,p.1006_1011del |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56204250A>C,c.3169T>G,p.L1057V |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56204167G>T,c.3252C>A,p.H1084Q |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203944T>C,c.3475A>G,p.T1159A |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203898T>G,c.3521A>C,p.H1174P |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203836C>T,c.3583G>A,p.V1195M |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203682G>T,c.3737C>A,p.S1246Y |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203629C>T,c.3790G>A,p.G1264S |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203583A>G,c.3836T>C,p.L1279P |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203556A>G,c.3863T>C,p.L1288S |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203485C>G,c.3934G>C,p.E1312Q |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203365A>G,c.4054T>C,p.S1352P |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203253_56203255del,c.4164_4166del,p.1388_1389del |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203146T>C,c.4273A>G,p.T1425A |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203136T>C,c.4283A>G,p.Q1428R |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203089C>T,c.4330G>A,p.E1444K |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203074G>A,c.4345C>T,p.P1449S |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203073G>A,c.4346C>T,p.P1449L |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56203067A>G,c.4352T>C,p.I1451T |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56202924C>T,c.4495G>A,p.E1499K |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56202900C>T,c.4519G>A,p.G1507R |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56202768C>A,c.4651G>T,p.A1551S |
| ALPK2(NM_052947,alpha-kinase 2,2170aa) | g.18:56202683T>C,c.4736A>G,p.Q1579R |