Genename |
Variants |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56202470G>A,c.4949C>T,p.A1650V |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56202338C>T,c.5081G>A,p.R1694Q |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56202231T>C,c.5188A>G,p.K1730E |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56202188T>A,c.5231A>T,p.E1744V |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56202184C>A,c.5235G>T,p.K1745N |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56202120G>A,c.5299C>T,p.H1767Y |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56191247G>A,c.5549C>T,p.P1850L |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56191239G>C,c.5557C>G,p.Q1853E |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56191053G>A,c.5650C>T,p.R1884C |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56184343G>A,c.5737C>T,p.R1913C |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56184325C>T,c.5755G>A,p.A1919T |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56184148C>T,c.5932G>A,p.A1978T |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56171309A>G,c.6101T>C,p.I2034T |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56171225C>G,c.6185G>C,p.C2062S |
ALPK2(NM_052947,alpha-kinase 2,2170aa) |
g.18:56149099T>C,c.6469A>G,p.I2157V |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113360940_113360941del,c.3450_3451del,p.1150fs |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113360884C>A,c.3394C>A,p.P1132T |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113359801T>C,c.3350T>C,p.L1117P |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113359794A>G,c.3343A>G,p.I1115V |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113359752G>A,c.3301G>A,p.E1101K |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113356346C>T,c.3077C>T,p.T1026M |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353657C>T,c.2954C>T,p.A985V |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353620C>T,c.2917C>T,p.R973C |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353523_113353525del,c.2820_2822del,p.940_941del |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353449A>G,c.2746A>G,p.N916D |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353433A>C,c.2730A>C,p.E910D |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353383G>A,c.2680G>A,p.G894S |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353321G>T,c.2618G>T,p.R873I |