Genename |
Variants |
ARSH(NM_001011719,arylsulfatase family, member H,562aa) |
g.X:2933323C>T,c.653C>T,p.T218I |
ARSH(NM_001011719,arylsulfatase family, member H,562aa) |
g.X:2933311G>A,c.641G>A,p.S214N |
ARSH(NM_001011719,arylsulfatase family, member H,562aa) |
g.X:2933233G>A,c.563G>A,p.R188H |
ARSH(NM_001011719,arylsulfatase family, member H,562aa) |
g.X:2933100C>A,c.430C>A,p.P144T |
ARSH(NM_001011719,arylsulfatase family, member H,562aa) |
g.X:2933065C>T,c.395C>T,p.P132L |
ARSH(NM_001011719,arylsulfatase family, member H,562aa) |
g.X:2928174C>T,c.196C>T,p.R66W |
ARSH(NM_001011719,arylsulfatase family, member H,562aa) |
g.X:2928108A>G,c.130A>G,p.R44G |
ARSH(NM_001011719,arylsulfatase family, member H,562aa) |
g.X:2928087C>T,c.109C>T,p.R37C |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66416527G>A,c.1501G>A,p.A501T |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66416512G>A,c.1486G>A,p.D496N |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66416504T>C,c.1478T>C,p.I493T |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66416467G>A,c.1441G>A,p.E481K |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66416357C>T,c.1331C>T,p.T444M |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66391314C>T,c.1192C>T,p.R398W |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66391276G>A,c.1154G>A,p.R385H |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66391225del,c.1103del,p.368fs |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66366659C>G,c.976C>G,p.R326G |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66364804T>C,c.820T>C,p.W274R |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66364691C>G,c.707C>G,p.T236S |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66352836G>A,c.595G>A,p.V199M |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66347800C>T,c.539C>T,p.A180V |
ARSG(NM_014960,arylsulfatase G,525aa) |
g.17:66347790C>T,c.529C>T,p.P177S |
ARSF(NM_001201539,arylsulfatase F,590aa) |
g.X:3030403C>T,c.1579C>T,p.H527Y |
ARSF(NM_001201539,arylsulfatase F,590aa) |
g.X:3021883C>T,c.1183C>T,p.R395W |
ARSF(NM_001201539,arylsulfatase F,590aa) |
g.X:3021839G>A,c.1139G>A,p.R380H |
ARSF(NM_001201539,arylsulfatase F,590aa) |
g.X:3021818G>A,c.1118G>A,p.G373E |
ARSF(NM_001201539,arylsulfatase F,590aa) |
g.X:3019164G>A,c.1004G>A,p.R335K |
ARSF(NM_001201539,arylsulfatase F,590aa) |
g.X:3002708G>A,c.830+1G>A,p.277Donor |