|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
|
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)
|
rs754982440
|
0.00003
|
|
NM_001318510.2(ACSL4):c.812A>G (p.Lys271Arg)
|
rs756162517
|
0.00001
|
|
NM_001330574.2(ZNF711):c.61A>G (p.Met21Val)
|
rs1381801436
|
0.00001
|
|
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val)
|
rs781971515
|
0.00001
|
|
NM_012280.4(FTSJ1):c.742C>T (p.Arg248Cys)
|
rs1135401942
|
0.00001
|
|
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
|
|
|
|
NM_000054.7(AVPR2):c.886T>C (p.Trp296Arg)
|
rs886041110
|
|
|
NM_000054.7(AVPR2):c.993dup (p.Val332fs)
|
|
|
|
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
|
|
|
|
NM_000132.4(F8):c.639_651dup (p.Phe218fs)
|
rs2124134352
|
|
|
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)
|
rs1321311878
|
|
|
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
|
|
|
|
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
|
|
|
|
NM_000307.5(POU3F4):c.249dup (p.Gly84fs)
|
rs1569280138
|
|
|
NM_000390.4(CHM):c.703-2A>G
|
rs2147667674
|
|
|
NM_000390.4(CHM):c.846dup (p.Asn283Ter)
|
rs2147665855
|
|
|
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
|
|
|
|
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
|
|
|
|
NM_000489.6(ATRX):c.7117G>T (p.Ala2373Ser)
|
|
|
|
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter)
|
rs1569515457
|
|
|
NM_001039591.3(USP9X):c.1309G>A (p.Ala437Thr)
|
|
|
|
NM_001079872.2(CUL4B):c.1444-1G>A
|
|
|
|
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)
|
|
|
|
NM_001110792.2(MECP2):c.515C>A (p.Thr172Asn)
|
|
|
|
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs)
|
rs2074373583
|
|
|
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter)
|
rs1555985820
|
|
|
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
|
rs1602635656
|
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
|
NM_001356.5(DDX3X):c.1171-1G>C
|
rs1602134459
|
|
|
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)
|
|
|
|
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro)
|
rs796052235
|
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
|
NM_001356.5(DDX3X):c.250TTC[1] (p.Phe85del)
|
|
|
|
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)
|
|
|
|
NM_002025.4(AFF2):c.853C>A (p.Pro285Thr)
|
|
|
|
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly)
|
rs2146867887
|
|
|
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)
|
rs1556852362
|
|
|
NM_004463.3(FGD1):c.1328G>A (p.Arg443His)
|
rs137853266
|
|
|
NM_004463.3(FGD1):c.679del (p.Ser227fs)
|
rs1922859149
|
|
|
NM_006950.3(SYN1):c.314del (p.Gly105fs)
|
rs1603078587
|
|
|
NM_007137.5(ZNF81):c.1897A>T (p.Thr633Ser)
|
|
|
|
NM_007325.5(GRIA3):c.826G>C (p.Glu276Gln)
|
rs2147378779
|
|
|
NM_012310.5(KIF4A):c.1921C>T (p.Arg641Trp)
|
|
|
|
NM_020717.5(SHROOM4):c.1460T>G (p.Leu487Trp)
|
rs1931243162
|
|
|
NM_030624.3(KLHL15):c.523C>G (p.Leu175Val)
|
|
|
|
NM_031407.7(HUWE1):c.7305GGA[6] (p.Glu2440dup)
|
rs781877059
|
|
|
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs)
|
rs1603290131
|
|
|
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)
|
|
|
|
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg)
|
rs140753501
|
|
|
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs)
|
rs2067083148
|
|
|
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)
|
|
|
|
NM_033380.3(COL4A5):c.311del (p.Pro104fs)
|
rs1603278993
|
|
|
NM_033380.3(COL4A5):c.4316-1G>T
|
rs281874734
|
|
|
NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)
|
|
|
|
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe)
|
|
|
|
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs)
|
rs1569509234
|
|
|
NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)
|
|
|
|
NM_153252.5(BRWD3):c.2843A>G (p.Tyr948Cys)
|
|
|
|
NM_153252.5(BRWD3):c.296G>T (p.Gly99Val)
|
|
|
|
NM_181672.3(OGT):c.1664G>A (p.Arg555Gln)
|
|
|
|
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)
|
rs2147130188
|
|