NM_000405.5(GM2A):c.*724G>C
|
rs112641014
|
0.19839
|
NM_000520.5(HEXA):c.-167G>A
|
rs77707876
|
0.01456
|
NM_000520.6(HEXA):c.*575G>A
|
rs76075374
|
0.01411
|
NM_000405.5(GM2A):c.*356C>A
|
rs189626755
|
0.00491
|
NM_000520.5(HEXA):c.-59G>A
|
rs147174351
|
0.00489
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_000405.5(GM2A):c.*2519G>A
|
rs138240164
|
0.00292
|
NM_000520.6(HEXA):c.*76G>A
|
rs558918292
|
0.00277
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_000405.5(GM2A):c.*410C>T
|
rs181890739
|
0.00090
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
NM_000520.5(HEXA):c.-136G>A
|
rs561320483
|
0.00054
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_000405.5(GM2A):c.*704T>A
|
rs569818818
|
0.00049
|
NM_000520.6(HEXA):c.*436C>T
|
rs112626309
|
0.00042
|
NM_000405.5(GM2A):c.*286C>T
|
rs766120281
|
0.00039
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_000405.5(GM2A):c.*426C>T
|
rs370699960
|
0.00032
|
NM_000521.4(HEXB):c.918G>C (p.Leu306=)
|
rs140607282
|
0.00031
|
NM_000405.5(GM2A):c.*1241T>C
|
rs541818620
|
0.00030
|
NM_000520.6(HEXA):c.*355C>G
|
rs188399769
|
0.00029
|
NM_000405.5(GM2A):c.*860C>T
|
rs368971605
|
0.00022
|
NM_000405.5(GM2A):c.*241C>T
|
rs377505668
|
0.00021
|
NM_000405.5(GM2A):c.254T>G (p.Val85Gly)
|
rs143999954
|
0.00021
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys)
|
rs143635580
|
0.00016
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
0.00016
|
NM_000405.5(GM2A):c.*1899G>C
|
rs886060274
|
0.00009
|
NM_000520.5(HEXA):c.-141G>A
|
rs886051462
|
0.00009
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
NM_000521.3(HEXB):c.-52C>A
|
rs886060748
|
0.00009
|
NM_000405.5(GM2A):c.517G>A (p.Val173Ile)
|
rs532003642
|
0.00008
|
NM_000405.5(GM2A):c.*984A>G
|
rs866309305
|
0.00007
|
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly)
|
rs761692942
|
0.00007
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_000405.5(GM2A):c.*1246A>G
|
rs760209124
|
0.00004
|
NM_000405.5(GM2A):c.*1673A>G
|
rs920253935
|
0.00004
|
NM_000405.5(GM2A):c.*2363C>T
|
rs566427956
|
0.00004
|
NM_000405.5(GM2A):c.*394G>A
|
rs574467377
|
0.00004
|
NM_000405.5(GM2A):c.*91C>A
|
rs774301017
|
0.00004
|
NM_000405.5(GM2A):c.*1410A>C
|
rs181014044
|
0.00003
|
NM_000405.5(GM2A):c.*2479C>T
|
rs886060276
|
0.00003
|
NM_000520.5(HEXA):c.-181T>C
|
rs886051463
|
0.00003
|
NM_000521.3(HEXB):c.-62G>A
|
rs1045177384
|
0.00003
|
NM_000521.4(HEXB):c.-14G>A
|
rs886060749
|
0.00003
|
NM_000405.5(GM2A):c.*1708A>G
|
rs1469616524
|
0.00002
|
NM_000405.5(GM2A):c.*1927C>G
|
rs1413471325
|
0.00002
|
NM_000405.5(GM2A):c.*274A>G
|
rs886060270
|
0.00002
|
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr)
|
rs756218457
|
0.00002
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
0.00002
|
NM_000405.5(GM2A):c.*1068A>G
|
rs576574973
|
0.00001
|
NM_000405.5(GM2A):c.*1362G>C
|
rs886060273
|
0.00001
|
NM_000405.5(GM2A):c.*188A>T
|
rs886060269
|
0.00001
|
NM_000405.5(GM2A):c.*2113G>A
|
rs886060275
|
0.00001
|
NM_000405.5(GM2A):c.*2619C>T
|
rs772153529
|
0.00001
|
NM_000405.5(GM2A):c.*2695G>A
|
rs770518416
|
0.00001
|
NM_000405.5(GM2A):c.*868T>C
|
rs886060272
|
0.00001
|
NM_000405.5(GM2A):c.13A>T (p.Met5Leu)
|
rs557461469
|
0.00001
|
NM_000520.5(HEXA):c.-207A>G
|
rs886051464
|
0.00001
|
NM_000520.6(HEXA):c.*12C>T
|
rs532797279
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys)
|
rs756740656
|
0.00001
|
NM_000521.4(HEXB):c.*105T>C
|
rs777009900
|
0.00001
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln)
|
rs751678693
|
0.00001
|
NM_000405.4(GM2A):c.-104T>C
|
rs1753617546
|
|
NM_000405.4(GM2A):c.-83C>G
|
rs1753618021
|
|
NM_000405.5(GM2A):c.*133C>T
|
rs1753917282
|
|
NM_000405.5(GM2A):c.*2009A>G
|
rs1753965351
|
|
NM_000405.5(GM2A):c.*2206C>T
|
rs1753968753
|
|
NM_000405.5(GM2A):c.*2452A>C
|
rs1037658502
|
|
NM_000405.5(GM2A):c.*245G>A
|
rs542291291
|
|
NM_000405.5(GM2A):c.*2529G>A
|
rs747946670
|
|
NM_000405.5(GM2A):c.*2550C>T
|
rs886060277
|
|
NM_000405.5(GM2A):c.*257C>G
|
rs536229935
|
|
NM_000405.5(GM2A):c.*2624C>T
|
rs886060278
|
|
NM_000405.5(GM2A):c.*352C>G
|
rs564679676
|
|
NM_000405.5(GM2A):c.*568G>A
|
rs886060271
|
|
NM_000405.5(GM2A):c.*722_*723dup
|
rs35982513
|
|
NM_000405.5(GM2A):c.*862C>G
|
rs781320720
|
|
NM_000405.5(GM2A):c.*903C>T
|
rs1753937645
|
|
NM_000405.5(GM2A):c.-7C>G
|
rs371628812
|
|
NM_000405.5(GM2A):c.37C>T (p.Leu13=)
|
rs1753622145
|
|
NM_000405.5(GM2A):c.539G>A (p.Arg180His)
|
rs368576623
|
|
NM_000520.6(HEXA):c.*200T>C
|
rs886051461
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000521.3(HEXB):c.-63G>A
|
rs1748827834
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.669G>A (p.Leu223=)
|
rs773385077
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
NM_000521.4(HEXB):c.78G>A (p.Met26Ile)
|
rs886060750
|
|