NM_002764.4(PRPS1):c.*762G>T
|
rs768310830
|
0.00035
|
NM_002764.4(PRPS1):c.*166G>A
|
rs371265973
|
0.00031
|
NM_002764.4(PRPS1):c.*159G>A
|
rs747334780
|
0.00019
|
NM_002764.4(PRPS1):c.*88C>T
|
rs1057515726
|
0.00015
|
NM_002764.4(PRPS1):c.*538G>T
|
rs1057515727
|
0.00005
|
NM_002764.4(PRPS1):c.*423T>A
|
rs1397267425
|
0.00004
|
NM_002764.4(PRPS1):c.*726C>T
|
rs1012116674
|
0.00004
|
NM_002764.4(PRPS1):c.611G>A (p.Arg204His)
|
rs1169615098
|
0.00003
|
NM_002764.4(PRPS1):c.*137C>T
|
rs1126445
|
|
NM_002764.4(PRPS1):c.*389G>A
|
rs5962870
|
|
NM_002764.4(PRPS1):c.*389G>C
|
rs5962870
|
|
NM_002764.4(PRPS1):c.*508G>C
|
rs1198892283
|
|
NM_002764.4(PRPS1):c.*538G>C
|
rs1057515727
|
|
NM_002764.4(PRPS1):c.*539G>C
|
rs370453137
|
|
NM_002764.4(PRPS1):c.*539G>T
|
rs370453137
|
|
NM_002764.4(PRPS1):c.*608C>T
|
rs1925809901
|
|
NM_002764.4(PRPS1):c.*938dup
|
rs1057515728
|
|
NM_002764.4(PRPS1):c.179G>A (p.Cys60Tyr)
|
rs2521336556
|
|
NM_002764.4(PRPS1):c.306+5G>T
|
|
|
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile)
|
rs2147682370
|
|
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu)
|
rs1602902855
|
|
NM_002764.4(PRPS1):c.531-15C>A
|
rs200259438
|
|
NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln)
|
rs867288458
|
|
NM_002764.4(PRPS1):c.733T>C (p.Tyr245His)
|
rs2521349509
|
|
NM_002764.4(PRPS1):c.842T>G (p.Met281Arg)
|
rs1925733763
|
|
NM_002764.4(PRPS1):c.913A>G (p.Asn305Asp)
|
|
|