Genename |
Variants |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10477939G>T,c.6G>T,p.E2D |
AMPD2(NM_001257360,adenosine monophosphate deaminase 2,879aa) |
g.1:110172455T>C,c.2062T>C,p.C688R |
AMPD2(NM_001257360,adenosine monophosphate deaminase 2,879aa) |
g.1:110170804G>A,c.1342G>A,p.V448M |
AMPD2(NM_001257360,adenosine monophosphate deaminase 2,879aa) |
g.1:110163879G>A,c.244G>A,p.A82T |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115236057G>A,c.133C>T,p.Q45X |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115231254G>A,c.242C>T,p.P81L |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115229524G>A,c.322C>T,p.R108C |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115229523C>T,c.323G>A,p.R108H |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115226899C>A,c.567G>T,p.Q189H |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115223070C>T,c.676G>A,p.D226N |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115222237T>A,c.959A>T,p.K320I |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115220658C>T,c.1196G>A,p.R399H |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115220593G>A,c.1261C>T,p.R421W |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115220086C>T,c.1373G>A,p.R458H |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115219994T>A,c.1465A>T,p.M489L |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115218613C>T,c.1499G>A,p.R500H |
AMPD1(NM_000036,adenosine monophosphate deaminase 1,780aa) |
g.1:115217465G>A,c.1807C>T,p.R603X |
AMOT(NM_001113490,angiomotin,1084aa) |
g.X:112065558T>A,c.797A>T,p.H266L |
AMOT(NM_001113490,angiomotin,1084aa) |
g.X:112048257T>C,c.1694A>G,p.N565S |
AMOT(NM_001113490,angiomotin,1084aa) |
g.X:112022894C>T,c.2488G>A,p.G830R |
AMOT(NM_001113490,angiomotin,1084aa) |
g.X:112022699C>T,c.2683G>A,p.A895T |
AMOT(NM_001113490,angiomotin,1084aa) |
g.X:112022644A>G,c.2738T>C,p.V913A |
AMOT(NM_001113490,angiomotin,1084aa) |
g.X:112022455G>A,c.2927C>T,p.P976L |
AMOT(NM_001113490,angiomotin,1084aa) |
g.X:112022297_112022298insAGG,c.3084_3085insCCT,p.1028_1029ins1aa |
AMOT(NM_001113490,angiomotin,1084aa) |
g.X:112021839G>C,c.3211C>G,p.L1071V |
AMOTL2(NM_016201,angiomotin like 2,780aa) |
g.3:134090083C>T,c.193G>A,p.V65M |
AMOTL2(NM_016201,angiomotin like 2,780aa) |
g.3:134089923G>C,c.353C>G,p.A118G |
AMOTL2(NM_016201,angiomotin like 2,780aa) |
g.3:134089834G>A,c.442C>T,p.R148W |