Genename |
Variants |
AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) |
g.6:44272473C>T,c.1661G>A,p.R554H |
AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) |
g.6:44270870C>T,c.2188G>A,p.V730M |
AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) |
g.6:44270597C>T,c.2306G>A,p.R769H |
AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) |
g.6:44270199G>A,c.2416C>T,p.R806W |
AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) |
g.6:44270198C>T,c.2417G>A,p.R806Q |
AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) |
g.6:44270189A>T,c.2426T>A,p.L809Q |
AARS2(NM_020745,alanyl-tRNA synthetase 2, mitochondrial,985aa) |
g.6:44270175C>T,c.2440G>A,p.V814M |
AARD(NM_001025357,alanine and arginine rich domain containing protein,155aa) |
g.8:117954840T>C,c.368T>C,p.L123P |
AARD(NM_001025357,alanine and arginine rich domain containing protein,155aa) |
g.8:117954810T>C,c.338T>C,p.F113S |
AARD(NM_001025357,alanine and arginine rich domain containing protein,155aa) |
g.8:117950768G>C,c.286G>C,p.G96R |
AARD(NM_001025357,alanine and arginine rich domain containing protein,155aa) |
g.8:117950758G>T,c.276G>T,p.Q92H |
AAR2(NM_015511,AAR2 splicing factor homolog (S. cerevisiae),384aa) |
g.20:34843656G>A,c.1144G>A,p.E382K |
AAR2(NM_015511,AAR2 splicing factor homolog (S. cerevisiae),384aa) |
g.20:34843605G>A,c.1093G>A,p.A365T |
AAR2(NM_015511,AAR2 splicing factor homolog (S. cerevisiae),384aa) |
g.20:34832804G>A,c.943G>A,p.V315I |
AAR2(NM_015511,AAR2 splicing factor homolog (S. cerevisiae),384aa) |
g.20:34832709G>A,c.848G>A,p.R283Q |
AAR2(NM_015511,AAR2 splicing factor homolog (S. cerevisiae),384aa) |
g.20:34832666G>A,c.805G>A,p.E269K |
AAR2(NM_015511,AAR2 splicing factor homolog (S. cerevisiae),384aa) |
g.20:34828370C>T,c.580C>T,p.R194W |
AAR2(NM_015511,AAR2 splicing factor homolog (S. cerevisiae),384aa) |
g.20:34828338T>C,c.548T>C,p.I183T |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74465916C>T,c.623C>T,p.A208V |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74465904T>C,c.611T>C,p.M204T |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74465813G>A,c.520G>A,p.A174T |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74465352G>T,c.396G>T,p.E132D |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74465275G>A,c.319G>A,p.V107I |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74464985C>T,c.292C>T,p.R98C |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74464967A>C,c.274A>C,p.S92R |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74464843C>G,c.150C>G,p.S50R |
AANAT(NM_001166579,aralkylamine N-acetyltransferase,252aa) |
g.17:74464836C>T,c.143C>T,p.T48M |
AAMP(NM_001087,angio-associated, migratory cell protein,434aa) |
g.2:219131270C>G,c.575G>C,p.G192A |