NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)
|
rs200059198
|
0.00012
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)
|
rs749975104
|
0.00004
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)
|
rs113094436
|
0.00002
|
NM_003359.4(UGDH):c.1328G>A (p.Arg443His)
|
rs1053767552
|
0.00002
|
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)
|
rs765379963
|
0.00002
|
NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter)
|
rs764453448
|
0.00001
|
NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser)
|
rs763122825
|
0.00001
|
NM_003359.4(UGDH):c.1228G>T (p.Ala410Ser)
|
rs770456604
|
0.00001
|
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)
|
rs369608407
|
0.00001
|
NM_003359.4(UGDH):c.764T>C (p.Ile255Thr)
|
rs1186496501
|
0.00001
|
NM_003359.4(UGDH):c.907G>A (p.Val303Ile)
|
rs1578265068
|
0.00001
|
NM_017679.5(BCAS3):c.1655C>T (p.Pro552Leu)
|
rs754857276
|
0.00001
|
NM_017679.5(BCAS3):c.1684G>A (p.Gly562Arg)
|
rs772813265
|
0.00001
|
NC_000017.11:g.60921178_61232194del
|
|
|
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)
|
rs1176071790
|
|
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)
|
rs745744124
|
|
NM_003359.4(UGDH):c.1068T>G (p.Tyr356Ter)
|
rs1260191836
|
|
NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys)
|
rs1578264574
|
|
NM_003359.4(UGDH):c.125T>C (p.Ile42Thr)
|
rs1578282133
|
|
NM_003359.4(UGDH):c.1324C>T (p.Arg442Trp)
|
rs201894374
|
|
NM_003359.4(UGDH):c.1346A>G (p.His449Arg)
|
rs779324355
|
|
NM_003359.4(UGDH):c.214T>G (p.Ser72Ala)
|
rs769243823
|
|
NM_003359.4(UGDH):c.244G>A (p.Ala82Thr)
|
rs1578274054
|
|
NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)
|
rs1578270476
|
|
NM_003359.4(UGDH):c.463C>T (p.Gln155Ter)
|
rs1381665298
|
|
NM_003359.4(UGDH):c.523C>G (p.Pro175Ala)
|
rs756467468
|
|
NM_003359.4(UGDH):c.651G>C (p.Glu217Asp)
|
rs1578269761
|
|
NM_003359.4(UGDH):c.70G>A (p.Ala24Thr)
|
rs1306655122
|
|
NM_003359.4(UGDH):c.811G>C (p.Gly271Arg)
|
rs1578269200
|
|
NM_003359.4(UGDH):c.916A>G (p.Met306Val)
|
rs1578265048
|
|
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)
|
rs1589590737
|
|
NM_014252.4(SLC25A15):c.446del (p.Ser149fs)
|
rs1566123619
|
|
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)
|
rs769429967
|
|
NM_017679.5(BCAS3):c.1133del (p.Val378fs)
|
rs2145247321
|
|
NM_017679.5(BCAS3):c.1457C>G (p.Ser486Ter)
|
rs2145432917
|
|
NM_017679.5(BCAS3):c.2029+4_2029+7del
|
rs2145620702
|
|
NM_017679.5(BCAS3):c.2182C>T (p.Gln728Ter)
|
rs2143487816
|
|
NM_017679.5(BCAS3):c.2425G>C (p.Gly809Arg)
|
rs2143538802
|
|
NM_017679.5(BCAS3):c.337C>T (p.Gln113Ter)
|
rs2144260660
|
|
NM_017679.5(BCAS3):c.530del (p.Met177fs)
|
rs2144887794
|
|
NM_017679.5(BCAS3):c.576C>A (p.Cys192Ter)
|
rs761069193
|
|
NM_017679.5(BCAS3):c.726T>G (p.Tyr242Ter)
|
rs2145000036
|
|
NM_017679.5(BCAS3):c.73C>T (p.Gln25Ter)
|
rs2143782841
|
|
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)
|
rs1574787779
|
|
NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del)
|
rs1638559065
|
|
NM_022834.5(VWA1):c.252del (p.Glu85fs)
|
rs767263669
|
|
NM_022834.5(VWA1):c.62_71del (p.Gly21fs)
|
rs749383814
|
|
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)
|
rs749383814
|
|
NM_022834.5(VWA1):c.879del (p.Arg293fs)
|
rs746212067
|
|
NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)
|
rs762573767
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_181882.3(PRX):c.27+1G>T
|
rs146342432
|
|