NM_000153.4(GALC):c.397T>C (p.Leu133=)
|
rs56194647
|
0.02565
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_000153.4(GALC):c.195+19G>A
|
rs189853941
|
0.00198
|
NM_000153.4(GALC):c.-327G>T
|
rs185943390
|
0.00120
|
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr)
|
rs370952794
|
0.00013
|
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)
|
rs200516260
|
0.00009
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000153.4(GALC):c.909-4T>G
|
rs201884281
|
0.00009
|
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys)
|
rs148519599
|
0.00007
|
NM_002778.4(PSAP):c.695G>A (p.Arg232His)
|
rs147265566
|
0.00006
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000153.4(GALC):c.226G>A (p.Glu76Lys)
|
rs778447883
|
0.00004
|
NM_000153.4(GALC):c.500A>G (p.Asn167Ser)
|
rs768993170
|
0.00004
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_002778.4(PSAP):c.679_681del (p.Lys227del)
|
rs1431844269
|
0.00003
|
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)
|
rs748573754
|
0.00001
|
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys)
|
rs367958957
|
0.00001
|
NM_000153.4(GALC):c.582+5G>A
|
rs757016859
|
0.00001
|
NM_000153.4(GALC):c.621+1G>A
|
rs759511006
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)
|
rs758904079
|
0.00001
|
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile)
|
rs759178813
|
0.00001
|
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu)
|
rs143016278
|
0.00001
|
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr)
|
rs759286485
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.1577A>G (p.His526Arg)
|
rs2139951434
|
|
NM_000153.4(GALC):c.442+4A>G
|
rs753169234
|
|
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
|
rs745620101
|
|
NM_000153.4(GALC):c.521del (p.Tyr174fs)
|
rs1555383517
|
|
NM_000153.4(GALC):c.581G>C (p.Gly194Ala)
|
rs963756824
|
|
NM_000153.4(GALC):c.953C>G (p.Pro318Arg)
|
rs387906954
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|