Genename |
Variants |
ADAD2(NM_139174,adenosine deaminase domain containing 2,665aa) |
g.16:84225156C>T,c.320C>T,p.P107L |
ADAD2(NM_139174,adenosine deaminase domain containing 2,665aa) |
g.16:84224967G>A,c.131G>A,p.G44E |
ADAD1(NM_139243,adenosine deaminase domain containing 1 (testis-specific),576aa) |
g.4:123350797A>G,c.1634A>G,p.Y545C |
ADAD1(NM_139243,adenosine deaminase domain containing 1 (testis-specific),576aa) |
g.4:123342477C>T,c.1549C>T,p.R517W |
ADAD1(NM_139243,adenosine deaminase domain containing 1 (testis-specific),576aa) |
g.4:123336725G>T,c.1441G>T,p.V481F |
ADAD1(NM_139243,adenosine deaminase domain containing 1 (testis-specific),576aa) |
g.4:123336617A>G,c.1333A>G,p.M445V |
ADAD1(NM_139243,adenosine deaminase domain containing 1 (testis-specific),576aa) |
g.4:123317455G>T,c.647G>T,p.R216I |
ADAD1(NM_139243,adenosine deaminase domain containing 1 (testis-specific),576aa) |
g.4:123302329A>G,c.355A>G,p.T119A |
ADAD1(NM_139243,adenosine deaminase domain containing 1 (testis-specific),576aa) |
g.4:123301331C>G,c.107C>G,p.P36R |
ACYP2(NM_138448,acylphosphatase 2, muscle type,99aa) |
g.2:54365810T>C,c.110T>C,p.V37A |
ACYP2(NM_138448,acylphosphatase 2, muscle type,99aa) |
g.2:54365802A>G,c.102A>G,p.I34M |
ACYP2(NM_138448,acylphosphatase 2, muscle type,99aa) |
g.2:54342846C>T,c.11C>T,p.A4V |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67414492C>T,c.23G>A,p.R8Q |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67414433C>T,c.82G>A,p.V28I |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67414358C>T,c.157G>A,p.A53T |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67414330C>T,c.185G>A,p.R62H |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67413341T>C,c.254A>G,p.D85G |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67413339C>T,c.256G>A,p.D86N |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67413314C>T,c.281G>A,p.R94Q |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67413177A>T,c.418T>A,p.C140S |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67412266C>G,c.709G>C,p.G237R |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67410325G>A,c.830C>T,p.T277M |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67410314C>T,c.841G>A,p.V281M |
ACY3(NM_080658,aspartoacylase (aminocyclase) 3,319aa) |
g.11:67410226G>A,c.929C>T,p.A310V |
ACY1(NM_000666,aminoacylase 1,408aa) |
g.3:52023042G>A,c.1178G>A,p.R393H |
ACY1(NM_000666,aminoacylase 1,408aa) |
g.3:52022926G>A,c.1063-1G>A,p.355Acceptor |
ACY1(NM_000666,aminoacylase 1,408aa) |
g.3:52022837C>T,c.1057C>T,p.R353C |
ACY1(NM_000666,aminoacylase 1,408aa) |
g.3:52021453C>T,c.836C>T,p.P279L |