Genename |
Variants |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124382159_124382161del,c.831_833del,p.277_278del |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124382158T>A,c.834A>T,p.E278D |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124382158_124382159insTCA,c.833_834insTGA,p.278ins1aa |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124381335C>T,c.1012G>A,p.A338T |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124371855T>C,c.1228A>G,p.S410G |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124371536G>A,c.1307C>T,p.A436V |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124357252C>T,c.2590G>A,p.V864M |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124357190A>C,c.2652T>G,p.I884M |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124348685T>C,c.3139A>G,p.K1047E |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124338171G>A,c.3964C>T,p.P1322S |
ATAD2(NM_014109,ATPase family, AAA domain containing 2,1390aa) |
g.8:124335225A>G,c.4084T>C,p.C1362R |
ATAD2B(NM_017552,ATPase family, AAA domain containing 2B,1458aa) |
g.2:24108652T>C,c.620A>G,p.Q207R |
ATAD2B(NM_017552,ATPase family, AAA domain containing 2B,1458aa) |
g.2:24090806T>C,c.1087A>G,p.M363V |
ATAD2B(NM_017552,ATPase family, AAA domain containing 2B,1458aa) |
g.2:24086345T>C,c.1385A>G,p.D462G |
ATAD2B(NM_017552,ATPase family, AAA domain containing 2B,1458aa) |
g.2:24042689T>C,c.2195A>G,p.N732S |
ATAD2B(NM_017552,ATPase family, AAA domain containing 2B,1458aa) |
g.2:23980759T>C,c.3607A>G,p.M1203V |
ATAD2B(NM_017552,ATPase family, AAA domain containing 2B,1458aa) |
g.2:23980698T>C,c.3668A>G,p.N1223S |
ATAD2B(NM_017552,ATPase family, AAA domain containing 2B,1458aa) |
g.2:23980449T>C,c.3917A>G,p.Q1306R |
ATAD2B(NM_017552,ATPase family, AAA domain containing 2B,1458aa) |
g.2:23980315C>T,c.4051G>A,p.V1351I |
ATAD1(NM_032810,ATPase family, AAA domain containing 1,361aa) |
g.10:89530722T>A,c.767A>T,p.H256L |
ATAD1(NM_032810,ATPase family, AAA domain containing 1,361aa) |
g.10:89514563G>C,c.967C>G,p.H323D |
ASZ1(NM_130768,ankyrin repeat, SAM and basic leucine zipper domain containing 1,475aa) |
g.7:117067420C>T,c.95G>A,p.R32Q |
ASZ1(NM_130768,ankyrin repeat, SAM and basic leucine zipper domain containing 1,475aa) |
g.7:117066949T>G,c.146A>C,p.K49T |
ASZ1(NM_130768,ankyrin repeat, SAM and basic leucine zipper domain containing 1,475aa) |
g.7:117062341T>A,c.278A>T,p.E93V |
ASZ1(NM_130768,ankyrin repeat, SAM and basic leucine zipper domain containing 1,475aa) |
g.7:117025850G>C,c.454C>G,p.P152A |
ASZ1(NM_130768,ankyrin repeat, SAM and basic leucine zipper domain containing 1,475aa) |
g.7:117024907G>A,c.560C>T,p.T187M |
ASZ1(NM_130768,ankyrin repeat, SAM and basic leucine zipper domain containing 1,475aa) |
g.7:117024820T>G,c.647A>C,p.K216T |
ASZ1(NM_130768,ankyrin repeat, SAM and basic leucine zipper domain containing 1,475aa) |
g.7:117021108G>A,c.902C>T,p.T301M |