Genename |
Variants |
AMDHD2(NM_001145815,amidohydrolase domain containing 2,594aa) |
g.16:2580279G>A,c.1304G>A,p.G435D |
AMDHD2(NM_001145815,amidohydrolase domain containing 2,594aa) |
g.16:2578599G>A,c.1009G>A,p.A337T |
AMDHD2(NM_001145815,amidohydrolase domain containing 2,594aa) |
g.16:2578569C>T,c.979C>T,p.P327S |
AMDHD2(NM_001145815,amidohydrolase domain containing 2,594aa) |
g.16:2577854G>A,c.496G>A,p.D166N |
AMDHD1(NM_152435,amidohydrolase domain containing 1,426aa) |
g.12:96360286G>A,c.1193G>A,p.R398Q |
AMDHD1(NM_152435,amidohydrolase domain containing 1,426aa) |
g.12:96360132G>A,c.1039G>A,p.V347I |
AMDHD1(NM_152435,amidohydrolase domain containing 1,426aa) |
g.12:96359501G>A,c.976G>A,p.G326R |
AMDHD1(NM_152435,amidohydrolase domain containing 1,426aa) |
g.12:96350590T>A,c.437T>A,p.M146K |
AMDHD1(NM_152435,amidohydrolase domain containing 1,426aa) |
g.12:96337183A>G,c.7A>G,p.S3G |
AMD1(NM_001634,adenosylmethionine decarboxylase 1,334aa) |
g.6:111214189C>T,c.785C>T,p.T262I |
AMD1(NM_001634,adenosylmethionine decarboxylase 1,334aa) |
g.6:111213645G>A,c.614G>A,p.R205H |
AMD1(NM_001634,adenosylmethionine decarboxylase 1,334aa) |
g.6:111196387C>G,c.79C>G,p.Q27E |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46564927G>C,c.640C>G,p.P214A |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46564053C>T,c.1244G>A,p.R415H |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46564032C>T,c.1265G>A,p.R422Q |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46515749T>C,c.2354A>G,p.N785S |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46465100T>C,c.2579A>G,p.N860S |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46456582C>T,c.2647G>A,p.V883M |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46455146T>C,c.2863A>G,p.M955V |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46430081C>A,c.3394G>T,p.A1132S |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46419430G>A,c.3476C>T,p.A1159V |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46419259C>T,c.3647G>A,p.G1216E |
AMBRA1(NM_001267782,autophagy/beclin-1 regulator 1,1301aa) |
g.11:46419241C>T,c.3665G>A,p.G1222E |
AMBP(NM_001633,alpha-1-microglobulin/bikunin precursor,352aa) |
g.9:116840453C>T,c.37G>A,p.A13T |
AMBP(NM_001633,alpha-1-microglobulin/bikunin precursor,352aa) |
g.9:116838986G>A,c.152C>T,p.S51F |
AMBP(NM_001633,alpha-1-microglobulin/bikunin precursor,352aa) |
g.9:116838885G>A,c.253C>T,p.R85C |
AMBP(NM_001633,alpha-1-microglobulin/bikunin precursor,352aa) |
g.9:116836351C>T,c.419G>A,p.R140H |
AMBP(NM_001633,alpha-1-microglobulin/bikunin precursor,352aa) |
g.9:116832007T>C,c.575A>G,p.E192G |