NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)
|
rs142094773
|
0.00541
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_006179.5(NTF4):c.263C>T (p.Ala88Val)
|
rs61732310
|
0.00196
|
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln)
|
rs201560745
|
0.00058
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr)
|
rs1174447128
|
0.00002
|
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)
|
rs1485132228
|
0.00001
|
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)
|
rs373279555
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
GRCh38/hg38 Xp11.23(chrX:49222435-49226325)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
|
|
|
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
|
|
|
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
|
|
|
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
|
|
|
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
|
|
|
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
|
|
|
NM_000032.5(ALAS2):c.-15-2188A>G
|
|
|
NM_000033.4(ABCD1):c.125del (p.Pro42fs)
|
rs2148388674
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000132.4(F8):c.1443+18T>G
|
rs782583179
|
|
NM_000252.3(MTM1):c.136+172T>C
|
|
|
NM_000489.6(ATRX):c.1974T>G (p.Arg658=)
|
rs1603222314
|
|
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro)
|
rs1569531570
|
|
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu)
|
rs1057517948
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001039591.3(USP9X):c.323-1G>A
|
|
|
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
|
|
|
NM_001039591.3(USP9X):c.771-2A>G
|
|
|
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)
|
rs1556024875
|
|
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs)
|
rs796052835
|
|
NM_001271696.3(ABCB7):c.1936-3C>G
|
rs1602330362
|
|
NM_001272071.2(AP1S2):c.*241A>C
|
|
|
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)
|
rs1064795323
|
|
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)
|
rs1602126980
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
|
|
|
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
|
|
|
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)
|
rs1569302194
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)
|
rs1602253509
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu)
|
rs1602353928
|
|
NM_002063.4(GLRA2):c.659A>C (p.Gln220Pro)
|
|
|
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
|
|
|
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter)
|
rs1602231587
|
|
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)
|
rs879255527
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs)
|
rs1569504068
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr)
|
rs1602152230
|
|
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)
|
rs1602070472
|
|