NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)
|
rs911707459
|
0.00001
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr)
|
rs1564286708
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter)
|
rs1553709881
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr)
|
rs1569240005
|
|
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)
|
rs1057520719
|
|
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs)
|
rs1569295677
|
|
NM_001367721.1(CASK):c.533-2A>G
|
rs1569380062
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001371928.1(AHDC1):c.997del (p.Ala333fs)
|
rs1557667078
|
|
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg)
|
rs1488808726
|
|
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe)
|
rs1557668270
|
|
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr)
|
rs1557670503
|
|
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly)
|
rs1557670515
|
|
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe)
|
rs1557670520
|
|
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)
|
rs1060499542
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_005257.6(GATA6):c.1072del (p.Val358fs)
|
rs1555628863
|
|
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)
|
rs387906818
|
|
NM_005257.6(GATA6):c.712G>T (p.Gly238Ter)
|
rs587777710
|
|
NM_005559.3:c.2988_2989delA
|
|
|
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs)
|
rs587777680
|
|
NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter)
|
rs587777681
|
|
NM_005559.4(LAMA1):c.588+2T>G
|
rs587777677
|
|
NM_005559.4(LAMA1):c.6345+3G>C
|
rs797045184
|
|
NM_005559.4(LAMA1):c.6701del (p.Pro2234fs)
|
rs797045182
|
|
NM_005559.4(LAMA1):c.7965-15_7965-3del
|
rs587777678
|
|
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)
|
rs1057517858
|
|
NM_012090.5(MACF1):c.10617+444_15577-288del
|
|
|
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)
|
rs1559720382
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs)
|
rs1558612412
|
|
NM_022893.4(BCL11A):c.295del (p.Val99fs)
|
rs1558519119
|
|
NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser)
|
rs1563436265
|
|
Single allele
|
|
|