NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_000153.4(GALC):c.*1451C>A
|
rs138919458
|
0.00054
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)
|
rs146286491
|
0.00019
|
NM_000153.4(GALC):c.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000153.4(GALC):c.328+6A>G
|
rs201977747
|
0.00011
|
NM_000153.4(GALC):c.82G>A (p.Ala28Thr)
|
rs776663863
|
0.00011
|
NM_000153.4(GALC):c.*405A>G
|
rs143839879
|
0.00008
|
NM_000153.4(GALC):c.*1458T>C
|
rs757918900
|
0.00006
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)
|
rs755139799
|
0.00006
|
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile)
|
rs557464603
|
0.00004
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
NM_000153.4(GALC):c.434C>T (p.Thr145Ile)
|
rs781281519
|
0.00003
|
NM_000153.4(GALC):c.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
NM_000153.3(GALC):c.-21C>T
|
rs768255795
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
NM_000153.4(GALC):c.1418G>A (p.Arg473His)
|
rs374868151
|
0.00001
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
NM_000153.4(GALC):c.40G>A (p.Ala14Thr)
|
rs1180517690
|
0.00001
|
NM_000153.4(GALC):c.443-12T>G
|
rs886038261
|
0.00001
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000153.3(GALC):c.-31delC
|
rs886050869
|
|
NM_000153.3(GALC):c.-73G>A
|
rs1887315658
|
|
NM_000153.3(GALC):c.-85T>A
|
rs886050870
|
|
NM_000153.4(GALC):c.*1584G>A
|
rs893698376
|
|
NM_000153.4(GALC):c.*1598G>A
|
rs574189020
|
|
NM_000153.4(GALC):c.*1625A>G
|
rs188934153
|
|
NM_000153.4(GALC):c.*363A>G
|
rs539617222
|
|
NM_000153.4(GALC):c.*366A>G
|
rs1884480659
|
|
NM_000153.4(GALC):c.*375A>G
|
rs1884480331
|
|
NM_000153.4(GALC):c.*389G>T
|
rs1884479809
|
|
NM_000153.4(GALC):c.*455A>G
|
rs1884476134
|
|
NM_000153.4(GALC):c.*486C>G
|
rs1280004708
|
|
NM_000153.4(GALC):c.*499T>C
|
rs1226531123
|
|
NM_000153.4(GALC):c.*591G>A
|
rs886050863
|
|
NM_000153.4(GALC):c.*877T>A
|
rs185181747
|
|
NM_000153.4(GALC):c.*994C>A
|
rs1884455084
|
|
NM_000153.4(GALC):c.*999T>C
|
rs1267707327
|
|
NM_000153.4(GALC):c.-68C>T
|
rs369469562
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala)
|
rs886050864
|
|
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser)
|
rs756141815
|
|
NM_000153.4(GALC):c.313G>A (p.Asp105Asn)
|
rs1361755363
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.3G>T (p.Met1Ile)
|
rs758685128
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.442+4A>G
|
rs753169234
|
|
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
|
|
|
NM_000153.4(GALC):c.583-11T>C
|
rs886050865
|
|
NM_000153.4(GALC):c.64G>C (p.Gly22Arg)
|
rs768031195
|
|
NM_000153.4(GALC):c.752+8A>C
|
rs750292340
|
|