NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
NM_000153.4(GALC):c.157C>T (p.Arg53Trp)
|
rs752371343
|
0.00003
|
NM_000153.4(GALC):c.23C>T (p.Ala8Val)
|
rs376511103
|
0.00003
|
NM_000153.4(GALC):c.179C>T (p.Ala60Val)
|
rs759110815
|
0.00002
|
NM_000153.2(GALC):c.-261C>A
|
rs1307710694
|
0.00001
|
NM_000153.4(GALC):c.*12G>A
|
rs372641636
|
0.00001
|
NM_000153.4(GALC):c.*14A>G
|
rs143444570
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)
|
rs1418694289
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)
|
rs767286511
|
0.00001
|
NM_000153.4(GALC):c.582+5G>A
|
rs757016859
|
0.00001
|
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)
|
rs1349064845
|
0.00001
|
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)
|
rs758904079
|
0.00001
|
NC_000014.9:g.87925139C>T
|
rs1555377065
|
|
NC_000014.9:g.87925152T>C
|
rs1555377066
|
|
NC_000014.9:g.87925176G>A
|
rs1234372203
|
|
NM_000153.2(GALC):c.-218G>C
|
rs1555384433
|
|
NM_000153.2(GALC):c.-219dup
|
rs1555384436
|
|
NM_000153.2(GALC):c.-234delGinsTTCC
|
rs1555384440
|
|
NM_000153.2(GALC):c.-257dup
|
rs1555384444
|
|
NM_000153.2(GALC):c.-285dup
|
rs1482465546
|
|
NM_000153.2(GALC):c.-296dup
|
rs1555384458
|
|
NM_000153.2(GALC):c.-317delG
|
rs1555384465
|
|
NM_000153.4(GALC):c.1162-5_1162-4delinsC
|
rs1555379806
|
|
NM_000153.4(GALC):c.1162-6_1162-5delinsA
|
rs1555379811
|
|
NM_000153.4(GALC):c.119G>A (p.Gly40Asp)
|
rs572947747
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu)
|
rs1555379155
|
|
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)
|
rs794727116
|
|
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser)
|
rs1360345372
|
|
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)
|
rs1060499761
|
|
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)
|
rs1555383892
|
|
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del)
|
rs1555383500
|
|
NM_000153.4(GALC):c.583A>G (p.Ile195Val)
|
rs1555383309
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
NM_000153.4(GALC):c.691G>A (p.Glu231Lys)
|
rs542231350
|
|
NM_000153.4(GALC):c.832A>G (p.Thr278Ala)
|
rs886042645
|
|