基因名 |
突变 |
ZNHIT6(NM_017953,zinc finger, HIT-type containing 6,470aa) |
g.1:86173562C>T,c.406G>A,p.E136K |
ZNHIT6(NM_017953,zinc finger, HIT-type containing 6,470aa) |
g.1:86173418C>T,c.550G>A,p.E184K |
ZNHIT6(NM_017953,zinc finger, HIT-type containing 6,470aa) |
g.1:86171945C>G,c.816G>C,p.M272I |
ZNHIT6(NM_017953,zinc finger, HIT-type containing 6,470aa) |
g.1:86167856T>C,c.1003A>G,p.T335A |
ZNHIT3(NM_001281432,zinc finger, HIT-type containing 3,148aa) |
g.17:34853569C>T,c.406C>T,p.Q136X |
ZNHIT2(NM_014205,zinc finger, HIT-type containing 2,403aa) |
g.11:64884663C>T,c.463G>A,p.E155K |
ZNHIT2(NM_014205,zinc finger, HIT-type containing 2,403aa) |
g.11:64884653G>A,c.473C>T,p.P158L |
ZNHIT2(NM_014205,zinc finger, HIT-type containing 2,403aa) |
g.11:64884599G>A,c.527C>T,p.A176V |
ZNHIT2(NM_014205,zinc finger, HIT-type containing 2,403aa) |
g.11:64884362T>C,c.764A>G,p.Q255R |
ZNHIT2(NM_014205,zinc finger, HIT-type containing 2,403aa) |
g.11:64883976G>A,c.1150C>T,p.R384W |
ZNHIT2(NM_014205,zinc finger, HIT-type containing 2,403aa) |
g.11:64883958C>T,c.1168G>A,p.V390M |
ZNHIT1(NM_006349,zinc finger, HIT-type containing 1,154aa) |
g.7:100867096G>A,c.416G>A,p.R139H |
ZNHIT1(NM_006349,zinc finger, HIT-type containing 1,154aa) |
g.7:100867081G>A,c.401G>A,p.R134Q |
ZNHIT1(NM_006349,zinc finger, HIT-type containing 1,154aa) |
g.7:100866764A>G,c.200A>G,p.K67R |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47888227T>C,c.122A>G,p.N41S |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47888096C>T,c.253G>A,p.E85K |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47887603G>T,c.746C>A,p.S249Y |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47887168C>T,c.1181G>A,p.S394N |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47886696C>G,c.1653G>C,p.M551I |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47886611G>T,c.1738C>A,p.P580T |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47874166C>T,c.2452G>A,p.E818K |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47874063T>C,c.2555A>G,p.E852G |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47874052C>T,c.2566G>A,p.A856T |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47872477C>T,c.2672G>A,p.R891H |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47872421T>C,c.2728A>G,p.T910A |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47872377C>G,c.2772G>C,p.Q924H |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47871053C>T,c.2938G>A,p.V980I |
ZNFX1(NM_021035,zinc finger, NFX1-type containing 1,1918aa) |
g.20:47869261T>C,c.3212A>G,p.Y1071C |