NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)
|
rs543697946
|
0.00006
|
NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro)
|
rs377749094
|
0.00003
|
NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly)
|
rs1564537266
|
0.00003
|
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)
|
rs543697946
|
0.00003
|
NM_177924.5(ASAH1):c.1098+1G>T
|
rs763842677
|
0.00001
|
NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr)
|
rs746513660
|
0.00001
|
NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys)
|
rs762756953
|
0.00001
|
NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr)
|
rs1588973247
|
|
NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg)
|
rs1588973237
|
|
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)
|
rs1588973202
|
|
NM_177924.5(ASAH1):c.1186dup (p.Ter396LeuextTer?)
|
rs1588971545
|
|
NM_177924.5(ASAH1):c.174dup (p.Tyr59fs)
|
rs771718522
|
|
NM_177924.5(ASAH1):c.256dup (p.Thr86fs)
|
rs1336696568
|
|
NM_177924.5(ASAH1):c.287TGG[1] (p.Val97del)
|
rs1588989947
|
|
NM_177924.5(ASAH1):c.290T>A (p.Val97Glu)
|
rs1588989964
|
|
NM_177924.5(ASAH1):c.290T>G (p.Val97Gly)
|
rs1588989964
|
|
NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro)
|
rs1588986195
|
|
NM_177924.5(ASAH1):c.383-10_383-6del
|
rs761372687
|
|
NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu)
|
rs1588982421
|
|
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer)
|
rs1281024431
|
|
NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter)
|
rs1588982399
|
|
NM_177924.5(ASAH1):c.457+4A>G
|
rs767864356
|
|
NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp)
|
rs1421841663
|
|
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)
|
rs1588978873
|
|
NM_177924.5(ASAH1):c.593T>C (p.Val198Ala)
|
rs1588978706
|
|
NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe)
|
rs1588978684
|
|
NM_177924.5(ASAH1):c.626G>A (p.Gly209Asp)
|
rs1588978567
|
|
NM_177924.5(ASAH1):c.66G>C (p.Gln22His)
|
rs1589012017
|
|
NM_177924.5(ASAH1):c.67C>G (p.His23Asp)
|
rs1359437059
|
|
NM_177924.5(ASAH1):c.704-2A>G
|
rs1588977181
|
|
NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro)
|
rs1588977010
|
|
NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu)
|
rs895669204
|
|
NM_177924.5(ASAH1):c.917+5G>A
|
rs1588974593
|
|
NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe)
|
rs1588999402
|
|
NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser)
|
rs1588974267
|
|
NM_177924.5(ASAH1):c.991G>A (p.Asp331Asn)
|
rs1354060089
|
|
NM_177924.5(ASAH1):c.998G>A (p.Arg333His)
|
rs1588974098
|
|