NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)
|
rs750972972
|
0.00001
|
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
|
rs1557054173
|
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NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
|
rs2091749146
|
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NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
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|
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NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
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NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
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|
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NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
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NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
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NM_000033.4(ABCD1):c.729del (p.Ser244fs)
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|
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NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
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NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe)
|
rs1057518723
|
|
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
|
|
|
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val)
|
rs2040150416
|
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NM_000252.3(MTM1):c.1468-2A>G
|
|
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NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
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|
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NM_000330.4(RS1):c.184+1G>A
|
|
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NM_000330.4(RS1):c.184+2T>C
|
|
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NM_000377.3(WAS):c.374G>A (p.Gly125Glu)
|
rs1557006534
|
|
NM_000444.6(PHEX):c.1966-1G>T
|
rs1064795147
|
|
NM_000489.6(ATRX):c.5449-7A>G
|
rs2067371776
|
|
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)
|
rs1057518708
|
|
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
|
|
|
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)
|
rs782596945
|
|
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr)
|
rs2080101583
|
|
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)
|
rs2063344708
|
|
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
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|
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NM_001034853.2(RPGR):c.311-1G>A
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NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
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|
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NM_001039591.3(USP9X):c.1315-4A>G
|
rs1057522024
|
|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
|
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter)
|
rs151340626
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)
|
rs1603276146
|
|
NM_001353921.2(ARHGEF9):c.402+1G>A
|
rs2052538764
|
|
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)
|
rs1602134468
|
|
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)
|
rs2063927856
|
|
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)
|
rs1064795387
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val)
|
rs2063875155
|
|
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
|
|
|
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
|
|
|
NM_002547.3(OPHN1):c.598-1G>C
|
|
|
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)
|
rs1057519448
|
|
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
|
rs1057518697
|
|
NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala)
|
rs1922347865
|
|
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
|
|
|
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)
|
rs1602490113
|
|
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
|
|
|
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)
|
rs1057518704
|
|
NM_153252.5(BRWD3):c.3899dup (p.Cys1300fs)
|
|
|
NM_153252.5(BRWD3):c.94dup (p.Leu32fs)
|
|
|
NM_181672.3(OGT):c.1529G>A (p.Ser510Asn)
|
|
|
NM_181672.3(OGT):c.2795C>T (p.Thr932Ile)
|
rs1602155923
|
|