NM_000520.6(HEXA):c.69C>G (p.Leu23=)
|
rs143554538
|
0.00107
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)
|
rs148511084
|
0.00018
|
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
|
rs112614306
|
0.00016
|
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)
|
rs151251788
|
0.00015
|
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)
|
rs148199798
|
0.00011
|
NM_000520.6(HEXA):c.581C>T (p.Ala194Val)
|
rs778947516
|
0.00010
|
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
|
rs768518776
|
0.00008
|
NM_000520.6(HEXA):c.102C>T (p.Asp34=)
|
rs377310315
|
0.00007
|
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met)
|
rs552505619
|
0.00007
|
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)
|
rs760153692
|
0.00007
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)
|
rs1227959449
|
0.00003
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
0.00002
|
NM_000520.6(HEXA):c.906C>T (p.Ser302=)
|
rs765612435
|
0.00002
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
|
rs774562271
|
0.00001
|
NM_000520.6(HEXA):c.1271G>A (p.Arg424His)
|
rs535095877
|
0.00001
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00001
|
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)
|
rs1185080097
|
0.00001
|
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
|
rs745432499
|
0.00001
|
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
|
rs753442808
|
0.00001
|
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)
|
rs141120074
|
0.00001
|
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
|
rs774220090
|
0.00001
|
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)
|
rs1282031681
|
0.00001
|
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)
|
rs1365750130
|
0.00001
|
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
|
rs769724246
|
0.00001
|
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp)
|
rs1166889033
|
0.00001
|
NM_000520.6(HEXA):c.574G>A (p.Val192Ile)
|
rs387906310
|
0.00001
|
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)
|
rs753862880
|
0.00001
|
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)
|
rs191330716
|
|
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)
|
rs745555933
|
|
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
|
rs2089059184
|
|
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)
|
rs557550173
|
|
NM_000520.6(HEXA):c.1421+7del
|
rs747378954
|
|
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)
|
rs2088580697
|
|
NM_000520.6(HEXA):c.298G>T (p.Val100Phe)
|
rs794727250
|
|
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
|
rs2088724627
|
|
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
|
rs1595800426
|
|
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys)
|
rs1555475519
|
|
NM_000520.6(HEXA):c.789T>C (p.Thr263=)
|
rs2088680576
|
|
NM_000520.6(HEXA):c.93A>T (p.Gln31His)
|
rs2089059614
|
|