NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
NM_001011658.4(TRAPPC2):c.-97G>A
|
rs746032983
|
0.00034
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu)
|
rs1246068842
|
0.00001
|
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)
|
rs865842167
|
0.00001
|
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)
|
rs2148488364
|
|
NM_000273.3(GPR143):c.360+2T>C
|
rs2146700764
|
|
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs)
|
rs2147807115
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000381.4(MID1):c.757-1G>A
|
rs1555895725
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs)
|
rs1556016224
|
|
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)
|
rs132630297
|
|
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)
|
rs132630300
|
|
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs)
|
rs2147080697
|
|
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)
|
rs905353542
|
|
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)
|
rs1085307760
|
|
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)
|
rs1603360542
|
|
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs)
|
rs1556880284
|
|
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
|
|
|
NM_001330360.2(POLA1):c.4313A>T (p.Lys1438Ile)
|
|
|
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)
|
rs1556358991
|
|
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu)
|
rs1602300014
|
|
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)
|
rs1555951993
|
|
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)
|
rs796052235
|
|
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs)
|
rs1602136369
|
|
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)
|
rs2147340483
|
|
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)
|
rs1602131859
|
|
NM_001356.5(DDX3X):c.833dup (p.Leu278fs)
|
rs1602131872
|
|
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro)
|
rs1602132216
|
|
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val)
|
rs1602041478
|
|
NM_002578.5(PAK3):c.1066G>T (p.Glu356Ter)
|
rs2149325212
|
|
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)
|
rs878853263
|
|
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
|
|
|
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe)
|
rs2146868023
|
|
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys)
|
rs1602183619
|
|
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter)
|
rs2146961698
|
|
NM_004187.5(KDM5C):c.589dup (p.Leu197fs)
|
rs1602228596
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004463.3(FGD1):c.1345C>T (p.Arg449Cys)
|
|
|
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile)
|
rs1325953089
|
|
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu)
|
rs1555980523
|
|
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)
|
rs1602299778
|
|
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)
|
rs1363308293
|
|
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)
|
rs1602140936
|
|
NM_006950.3(SYN1):c.1001del (p.Asn334fs)
|
rs1603051674
|
|
NM_006950.3(SYN1):c.1439dup (p.Leu481fs)
|
rs1556857481
|
|
NM_015107.3(PHF8):c.2444-2A>G
|
rs1603305030
|
|
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn)
|
rs2124105757
|
|
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
|
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
NM_033380.3(COL4A5):c.438+1G>A
|
rs1603279819
|
|
NM_033380.3(COL4A5):c.645+3_645+36del
|
|
|
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer)
|
rs1569394026
|
|