Genename |
Variants |
ANKRD44(NM_001195144,ankyrin repeat domain 44,993aa) |
g.2:197990741A>C,c.282T>G,p.I94M |
ANKRD44(NM_001195144,ankyrin repeat domain 44,993aa) |
g.2:197990607C>G,c.416G>C,p.G139A |
ANKRD44(NM_001195144,ankyrin repeat domain 44,993aa) |
g.2:197872574C>T,c.2086G>A,p.V696I |
ANKRD44(NM_001195144,ankyrin repeat domain 44,993aa) |
g.2:197870520C>T,c.2245G>A,p.A749T |
ANKRD44(NM_001195144,ankyrin repeat domain 44,993aa) |
g.2:197860140C>T,c.2794G>A,p.E932K |
ANKRD42(NM_182603,ankyrin repeat domain 42,389aa) |
g.11:82959029G>A,c.1156G>A,p.V386I |
ANKRD42(NM_182603,ankyrin repeat domain 42,389aa) |
g.11:82935986A>G,c.592A>G,p.N198D |
ANKRD42(NM_182603,ankyrin repeat domain 42,389aa) |
g.11:82935966C>T,c.572C>T,p.T191M |
ANKRD42(NM_182603,ankyrin repeat domain 42,389aa) |
g.11:82935963C>T,c.569C>T,p.A190V |
ANKRD40(NM_052855,ankyrin repeat domain 40,368aa) |
g.17:48784934T>C,c.82A>G,p.K28E |
ANKRD40(NM_052855,ankyrin repeat domain 40,368aa) |
g.17:48777244T>A,c.294A>T,p.E98D |
ANKRD40(NM_052855,ankyrin repeat domain 40,368aa) |
g.17:48777241A>T,c.297T>A,p.D99E |
ANKRD40(NM_052855,ankyrin repeat domain 40,368aa) |
g.17:48777220_48777221insTCA,c.317_318insTGA,p.106ins1aa |
ANKRD40(NM_052855,ankyrin repeat domain 40,368aa) |
g.17:48776886A>G,c.652T>C,p.S218P |
ANKRD40(NM_052855,ankyrin repeat domain 40,368aa) |
g.17:48776874A>G,c.664T>C,p.S222P |
ANKRD39(NM_016466,ankyrin repeat domain 39,183aa) |
g.2:97523720G>A,c.5C>T,p.A2V |
ANKRD39(NM_016466,ankyrin repeat domain 39,183aa) |
g.2:97520094G>A,c.185C>T,p.S62L |
ANKRD39(NM_016466,ankyrin repeat domain 39,183aa) |
g.2:97514111C>T,c.479G>A,p.R160Q |
ANKRD37(NM_181726,ankyrin repeat domain 37,158aa) |
g.4:186320906C>G,c.455C>G,p.T152S |
ANKRD37(NM_181726,ankyrin repeat domain 37,158aa) |
g.4:186320890G>A,c.439G>A,p.G147R |
ANKRD37(NM_181726,ankyrin repeat domain 37,158aa) |
g.4:186320761G>A,c.310G>A,p.A104T |
ANKRD37(NM_181726,ankyrin repeat domain 37,158aa) |
g.4:186320740G>A,c.289G>A,p.G97R |
ANKRD37(NM_181726,ankyrin repeat domain 37,158aa) |
g.4:186318430C>T,c.154C>T,p.Q52X |
ANKRD37(NM_181726,ankyrin repeat domain 37,158aa) |
g.4:186318414T>G,c.138T>G,p.F46L |
ANKRD36(NM_001164315,ankyrin repeat domain 36,1941aa) |
g.2:97911153G>A,c.4829G>A,p.R1610H |
ANKRD36(NM_001164315,ankyrin repeat domain 36,1941aa) |
g.2:97911105G>C,c.4781G>C,p.C1594S |
ANKRD36(NM_001164315,ankyrin repeat domain 36,1941aa) |
g.2:97884950A>G,c.3922A>G,p.T1308A |
ANKRD36(NM_001164315,ankyrin repeat domain 36,1941aa) |
g.2:97883094T>G,c.3838T>G,p.W1280G |