NM_000405.5(GM2A):c.*724G>C
|
rs112641014
|
0.19839
|
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.*410C>T
|
rs181890739
|
0.00090
|
NM_000405.5(GM2A):c.*704T>A
|
rs569818818
|
0.00049
|
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.*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.*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_000405.5(GM2A):c.388C>T (p.Arg130Cys)
|
rs761084552
|
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.*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
|
NC_000005.9:g.(?_150632778)_(150646494_?)dup
|
|
|
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.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.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.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.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.379G>A (p.Glu127Lys)
|
rs1561620130
|
|
NM_000405.5(GM2A):c.37C>T (p.Leu13=)
|
rs1753622145
|
|
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)
|
|
|
NM_000405.5(GM2A):c.427-13G>A
|
rs1753905990
|
|
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)
|
|
|
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.505C>A (p.Arg169Ser)
|
|
|
NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)
|
|
|
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.559G>A (p.Ala187Thr)
|
|
|
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)
|
|
|
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)
|
|
|
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)
|
|
|
NM_000405.5(GM2A):c.81+4A>G
|
|
|
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro)
|
rs1582070376
|
|
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)
|
|
|