Genename |
Variants |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197070313G>A,c.8068C>T,p.R2690W |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197070312C>T,c.8069G>A,p.R2690Q |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197070178A>C,c.8203T>G,p.F2735V |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197070153C>T,c.8228G>A,p.R2743Q |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197069932C>A,c.8449G>T,p.A2817S |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197069929C>A,c.8452G>T,p.A2818S |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197062324C>T,c.9152G>A,p.R3051Q |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197062222A>G,c.9254T>C,p.I3085T |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197061086A>C,c.9395T>G,p.L3132R |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197060077T>G,c.9539A>C,p.Q3180P |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197060063C>G,c.9553G>C,p.A3185P |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197060052T>C,c.9564A>G,p.I3188M |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197059425G>A,c.9730C>T,p.R3244X |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197059211A>G,c.9833T>C,p.V3278A |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197057451C>T,c.10096G>A,p.G3366R |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197056003G>T,c.10261C>A,p.Q3421K |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62559380T>C,c.548A>G,p.D183G |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62557164T>C,c.647A>G,p.E216G |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62555465G>C,c.772C>G,p.Q258E |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62550924_62550925insA,c.791-2insT,p.264Acceptorins |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62550551G>A,c.844C>T,p.P282S |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62489375G>A,c.1105C>T,p.R369C |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62479820C>T,c.1207G>A,p.E403K |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62479729A>C,c.1298T>G,p.L433R |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62460652G>A,c.1742C>T,p.T581M |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62438574T>C,c.1862A>G,p.E621G |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62438550G>A,c.1886C>T,p.T629M |
ASPH(NM_004318,aspartate beta-hydroxylase,758aa) |
g.8:62430611T>C,c.1972A>G,p.T658A |