NM_000405.5(GM2A):c.205A>G (p.Met69Val)
|
rs153478
|
0.73795
|
NM_000405.5(GM2A):c.*944T>C
|
rs149174
|
0.64518
|
NM_000405.5(GM2A):c.175A>G (p.Ile59Val)
|
rs153477
|
0.62259
|
NM_000405.5(GM2A):c.*227A>G
|
rs989
|
0.40371
|
NM_000405.5(GM2A):c.*2141C>T
|
rs153449
|
0.36881
|
NM_000405.5(GM2A):c.*1445G>A
|
rs153450
|
0.25029
|
NM_000405.5(GM2A):c.582A>G (p.Ter194=)
|
rs1048723
|
0.23979
|
NM_000405.5(GM2A):c.*1994A>G
|
rs12516391
|
0.21184
|
NM_000405.5(GM2A):c.*1866C>T
|
rs3806953
|
0.21159
|
NM_000405.5(GM2A):c.*724G>C
|
rs112641014
|
0.19839
|
NM_000405.5(GM2A):c.*2849G>A
|
rs10076053
|
0.11816
|
NM_000405.5(GM2A):c.*938G>A
|
rs1130163
|
0.09731
|
NM_000405.5(GM2A):c.*144T>C
|
rs9324686
|
0.08805
|
NM_000405.5(GM2A):c.*28C>T
|
rs9324685
|
0.08802
|
NM_000405.5(GM2A):c.458T>C (p.Val153Ala)
|
rs61740602
|
0.07011
|
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)
|
rs1048719
|
0.03595
|
NM_000405.5(GM2A):c.*2801A>G
|
rs111935946
|
0.02697
|
NM_000405.5(GM2A):c.*401G>A
|
rs116809628
|
0.02370
|
NM_000405.5(GM2A):c.*2643G>T
|
rs114108271
|
0.01991
|
NM_000405.5(GM2A):c.*1695C>A
|
rs115956086
|
0.01829
|
NM_000405.4(GM2A):c.-44G>A
|
rs144932594
|
0.01013
|
NM_000405.5(GM2A):c.*536G>T
|
rs151210034
|
0.00992
|
NM_000405.5(GM2A):c.*824C>A
|
rs186626408
|
0.00796
|
NM_000405.5(GM2A):c.*790C>T
|
rs181571430
|
0.00637
|
NM_000405.5(GM2A):c.*356C>A
|
rs189626755
|
0.00491
|
NM_000405.5(GM2A):c.*2519G>A
|
rs138240164
|
0.00292
|
NM_000405.5(GM2A):c.*226C>T
|
rs537947985
|
0.00255
|
NM_000405.5(GM2A):c.*2430T>C
|
rs3734041
|
0.00252
|
NM_000405.5(GM2A):c.*2767C>T
|
rs117832237
|
0.00252
|
NM_000405.5(GM2A):c.*1829C>T
|
rs3806952
|
0.00250
|
NM_000405.5(GM2A):c.*864C>T
|
rs191120902
|
0.00151
|
NM_000405.5(GM2A):c.33C>T (p.Ile11=)
|
rs143867953
|
0.00096
|
NM_000405.5(GM2A):c.*410C>T
|
rs181890739
|
0.00090
|
NM_000405.5(GM2A):c.*704T>A
|
rs569818818
|
0.00049
|
NM_000405.5(GM2A):c.126G>A (p.Gly42=)
|
rs113271740
|
0.00041
|
NM_000405.5(GM2A):c.*286C>T
|
rs766120281
|
0.00039
|
NM_000405.5(GM2A):c.*426C>T
|
rs370699960
|
0.00032
|
NM_000405.5(GM2A):c.*1241T>C
|
rs541818620
|
0.00030
|
NM_000405.5(GM2A):c.244G>C (p.Val82Leu)
|
rs139014924
|
0.00023
|
NM_000405.5(GM2A):c.506G>A (p.Arg169His)
|
rs104893892
|
0.00023
|
NM_000405.5(GM2A):c.575G>T (p.Gly192Val)
|
rs751291017
|
0.00023
|
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_000405.5(GM2A):c.*255C>T
|
rs75026189
|
0.00016
|
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn)
|
rs28365994
|
0.00013
|
NM_000405.5(GM2A):c.*629C>T
|
rs184763035
|
0.00012
|
NM_000405.5(GM2A):c.*1899G>C
|
rs886060274
|
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_000405.5(GM2A):c.427-4G>A
|
rs761411485
|
0.00006
|
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.138G>A (p.Ala46=)
|
rs147511920
|
0.00004
|
NM_000405.5(GM2A):c.177C>T (p.Ile59=)
|
rs745799277
|
0.00004
|
NM_000405.5(GM2A):c.82-15C>T
|
rs369106753
|
0.00004
|
NM_000405.5(GM2A):c.*1410A>C
|
rs181014044
|
0.00003
|
NM_000405.5(GM2A):c.*2479C>T
|
rs886060276
|
0.00003
|
NM_000405.5(GM2A):c.244-13T>G
|
rs772862761
|
0.00003
|
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys)
|
rs761084552
|
0.00003
|
NM_000405.5(GM2A):c.450C>T (p.Ser150=)
|
rs755569739
|
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_000405.5(GM2A):c.496G>A (p.Gly166Arg)
|
rs764022955
|
0.00002
|
NM_000405.5(GM2A):c.516C>T (p.Ser172=)
|
rs754452771
|
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.139G>A (p.Val47Met)
|
rs1269101684
|
0.00001
|
NM_000405.5(GM2A):c.13A>T (p.Met5Leu)
|
rs557461469
|
0.00001
|
NM_000405.5(GM2A):c.195C>T (p.Thr65=)
|
rs768523926
|
0.00001
|
NM_000405.5(GM2A):c.24C>T (p.Pro8=)
|
rs752323907
|
0.00001
|
NM_000405.5(GM2A):c.39G>A (p.Leu13=)
|
rs374161170
|
0.00001
|
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)
|
rs137852797
|
0.00001
|
NM_000405.5(GM2A):c.495C>T (p.Thr165=)
|
rs759623712
|
0.00001
|
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)
|
rs775585062
|
0.00001
|
NM_000405.5(GM2A):c.522G>C (p.Leu174=)
|
rs778176491
|
0.00001
|
NM_000405.5(GM2A):c.82-8G>C
|
rs376211344
|
0.00001
|
NC_000005.9:g.(?_150632778)_(150646494_?)dup
|
|
|
NM_000405.5(GM2A):c.*1239dup
|
rs397883774
|
|
NM_000405.5(GM2A):c.*1274dup
|
rs397716595
|
|
NM_000405.5(GM2A):c.*1312G>T
|
rs541345989
|
|
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.*2717_*2720del
|
rs35384604
|
|
NM_000405.5(GM2A):c.*352C>G
|
rs564679676
|
|
NM_000405.5(GM2A):c.*376del
|
rs397712620
|
|
NM_000405.5(GM2A):c.*568G>A
|
rs886060271
|
|
NM_000405.5(GM2A):c.*722_*723dup
|
rs35982513
|
|
NM_000405.5(GM2A):c.*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.11T>A (p.Leu4Gln)
|
rs762676667
|
|
NM_000405.5(GM2A):c.137C>A (p.Ala46Glu)
|
|
|
NM_000405.5(GM2A):c.13A>C (p.Met5Leu)
|
|
|
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter)
|
rs104893897
|
|
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)
|
rs730882196
|
|
NM_000405.5(GM2A):c.172A>T (p.Ile58Phe)
|
|
|
NM_000405.5(GM2A):c.178G>A (p.Val60Ile)
|
rs201829650
|
|
NM_000405.5(GM2A):c.178G>C (p.Val60Leu)
|
rs201829650
|
|
NM_000405.5(GM2A):c.182C>G (p.Pro61Arg)
|
|
|
NM_000405.5(GM2A):c.184G>A (p.Gly62Arg)
|
|
|
NM_000405.5(GM2A):c.203T>C (p.Val68Ala)
|
|
|
NM_000405.5(GM2A):c.204_205inv (p.Met69Val)
|
|
|
NM_000405.5(GM2A):c.205_206delinsGC (p.Met69Ala)
|
|
|
NM_000405.5(GM2A):c.207G>A (p.Met69Ile)
|
rs2114032524
|
|
NM_000405.5(GM2A):c.207G>C (p.Met69Ile)
|
|
|
NM_000405.5(GM2A):c.209del (p.Gly70fs)
|
rs2114032531
|
|
NM_000405.5(GM2A):c.243+10G>A
|
|
|
NM_000405.5(GM2A):c.243+9G>A
|
|
|
NM_000405.5(GM2A):c.244-15A>T
|
|
|
NM_000405.5(GM2A):c.244-2A>T
|
rs1057519022
|
|
NM_000405.5(GM2A):c.244-6T>C
|
rs2127240577
|
|
NM_000405.5(GM2A):c.244-6del
|
|
|
NM_000405.5(GM2A):c.244-6dup
|
|
|
NM_000405.5(GM2A):c.261G>A (p.Glu87=)
|
|
|
NM_000405.5(GM2A):c.262_264del (p.Lys88del)
|
rs1753894328
|
|
NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe)
|
rs1753894633
|
|
NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg)
|
rs2127240636
|
|
NM_000405.5(GM2A):c.308T>C (p.Ile103Thr)
|
rs1443880021
|
|
NM_000405.5(GM2A):c.315C>T (p.Ser105=)
|
|
|
NM_000405.5(GM2A):c.333del (p.Cys112fs)
|
rs587779405
|
|
NM_000405.5(GM2A):c.342G>C (p.Val114=)
|
|
|
NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)
|
|
|
NM_000405.5(GM2A):c.367del (p.Glu123fs)
|
rs1302210667
|
|
NM_000405.5(GM2A):c.36C>T (p.Ala12=)
|
|
|
NM_000405.5(GM2A):c.379G>A (p.Glu127Lys)
|
rs1561620130
|
|
NM_000405.5(GM2A):c.37C>T (p.Leu13=)
|
rs1753622145
|
|
NM_000405.5(GM2A):c.381G>A (p.Glu127=)
|
|
|
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)
|
|
|
NM_000405.5(GM2A):c.410del (p.His137fs)
|
rs2127240813
|
|
NM_000405.5(GM2A):c.426+11A>T
|
|
|
NM_000405.5(GM2A):c.427-12G>A
|
|
|
NM_000405.5(GM2A):c.427-13G>A
|
rs1753905990
|
|
NM_000405.5(GM2A):c.427-14T>A
|
|
|
NM_000405.5(GM2A):c.427-4G>T
|
|
|
NM_000405.5(GM2A):c.427-6C>T
|
|
|
NM_000405.5(GM2A):c.427-7C>T
|
|
|
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)
|
|
|
NM_000405.5(GM2A):c.429A>T (p.Gly143=)
|
|
|
NM_000405.5(GM2A):c.445A>C (p.Lys149Gln)
|
|
|
NM_000405.5(GM2A):c.449G>A (p.Ser150Asn)
|
|
|
NM_000405.5(GM2A):c.467A>T (p.Asp156Val)
|
|
|
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter)
|
rs1057519021
|
|
NM_000405.5(GM2A):c.492C>G (p.Thr164=)
|
|
|
NM_000405.5(GM2A):c.505C>A (p.Arg169Ser)
|
|
|
NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)
|
|
|
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro)
|
rs104893892
|
|
NM_000405.5(GM2A):c.511G>C (p.Glu171Gln)
|
|
|
NM_000405.5(GM2A):c.512A>T (p.Glu171Val)
|
|
|
NM_000405.5(GM2A):c.524G>A (p.Ser175Asn)
|
|
|
NM_000405.5(GM2A):c.538C>A (p.Arg180Ser)
|
rs771081390
|
|
NM_000405.5(GM2A):c.538C>T (p.Arg180Cys)
|
|
|
NM_000405.5(GM2A):c.539G>A (p.Arg180His)
|
rs368576623
|
|
NM_000405.5(GM2A):c.539G>C (p.Arg180Pro)
|
|
|
NM_000405.5(GM2A):c.558C>T (p.Ile186=)
|
|
|
NM_000405.5(GM2A):c.559G>A (p.Ala187Thr)
|
|
|
NM_000405.5(GM2A):c.570A>G (p.Leu190=)
|
|
|
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)
|
|
|
NM_000405.5(GM2A):c.579A>C (p.Ile193=)
|
|
|
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)
|
|
|
NM_000405.5(GM2A):c.57C>G (p.Ala19=)
|
|
|
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)
|
|
|
NM_000405.5(GM2A):c.81+4A>G
|
|
|
NM_000405.5(GM2A):c.82-17T>C
|
|
|
NM_000405.5(GM2A):c.82-18C>T
|
|
|
NM_000405.5(GM2A):c.84A>G (p.Pro28=)
|
|
|
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro)
|
rs1582070376
|
|
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)
|
|
|