Genename |
Variants |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38574539G>A,c.142C>T,p.R48W |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38514968C>T,c.553G>A,p.V185I |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38505819T>A,c.620A>T,p.K207I |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38502595G>A,c.868C>T,p.R290W |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38502583G>A,c.880C>T,p.P294S |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38475878C>G,c.1128G>C,p.M376I |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38471790G>A,c.1157C>T,p.T386M |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38462065A>G,c.1228T>C,p.S410P |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38433726T>G,c.1487A>C,p.K496T |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38431594T>G,c.1633A>C,p.I545L |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38431503G>A,c.1724C>T,p.P575L |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38431470G>A,c.1757C>T,p.T586M |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38424483T>C,c.2024A>G,p.Q675R |
AMPH(NM_001635,amphiphysin,695aa) |
g.7:38424430G>A,c.2077C>T,p.R693C |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10523066G>A,c.1792G>A,p.G598S |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10521792C>T,c.1738C>T,p.R580C |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10517273C>T,c.1444C>T,p.R482W |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10517213T>C,c.1384T>C,p.Y462H |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10517126C>T,c.1297C>T,p.R433W |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10515023G>A,c.1088G>A,p.R363Q |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10515022C>T,c.1087C>T,p.R363W |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10508903G>T,c.952G>T,p.V318L |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10508888C>T,c.937C>T,p.R313W |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10508808A>G,c.857A>G,p.N286S |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10506546G>C,c.790G>C,p.D264H |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10503736C>T,c.574C>T,p.R192W |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10503667C>T,c.505C>T,p.R169W |
AMPD3(NM_001025390,adenosine monophosphate deaminase 3,774aa) |
g.11:10500150C>T,c.320C>T,p.P107L |