Genename |
Variants |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353311G>A,c.2608G>A,p.G870S |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113353285T>C,c.2582T>C,p.M861T |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352999G>C,c.2296G>C,p.G766R |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352955C>T,c.2252C>T,p.P751L |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352899G>A,c.2196G>A,p.M732I |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352832C>T,c.2129C>T,p.S710F |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352745G>A,c.2042G>A,p.G681D |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352682C>T,c.1979C>T,p.P660L |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352628A>G,c.1925A>G,p.H642R |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352597G>C,c.1894G>C,p.D632H |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352446T>A,c.1743T>A,p.S581R |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352397G>A,c.1694G>A,p.G565D |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113352075A>G,c.1372A>G,p.T458A |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113351850A>G,c.1147A>G,p.K383E |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113350395G>A,c.886G>A,p.V296M |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113350384C>T,c.875C>T,p.T292M |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113345147A>G,c.523A>G,p.N175D |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113303632A>G,c.200A>G,p.Q67R |
ALPK1(NM_025144,alpha-kinase 1,1244aa) |
g.4:113303616G>A,c.184G>A,p.V62M |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233323635G>A,c.1366G>A,p.V456M |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233323460T>A,c.1300+2T>A,p.434Donor |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233323052G>A,c.1117G>A,p.V373I |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233321982G>A,c.598G>A,p.E200K |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233321916A>G,c.532A>G,p.T178A |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233321913G>A,c.529G>A,p.G177S |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233321390C>G,c.285C>G,p.Y95X |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233321305C>T,c.200C>T,p.T67M |
ALPI(NM_001631,alkaline phosphatase, intestinal,528aa) |
g.2:233321074C>T,c.83C>T,p.P28L |