NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)
|
rs782785654
|
0.00005
|
NM_001394062.1(MACF1):c.22313G>A (p.Arg7438Gln)
|
rs1218844508
|
0.00001
|
NM_020320.5(RARS2):c.1650+5G>A
|
rs750433723
|
0.00001
|
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)
|
rs1258569046
|
0.00001
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)
|
rs398123695
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys)
|
rs886037663
|
|
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
|
rs1131691643
|
|
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.2156-1G>A
|
rs1569291261
|
|
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_006009.4(TUBA1A):c.180G>T (p.Lys60Asn)
|
rs1565627707
|
|
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)
|
rs1569234334
|
|
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)
|
rs1554823375
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)
|
rs1563183469
|
|
NM_017412.4(FZD3):c.1616dup (p.Asp539fs)
|
rs1563406024
|
|
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
|
|
NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met)
|
rs1279041694
|
|
Single allele
|
|
|