NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp)
|
rs2068193669
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs)
|
rs606231193
|
|
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)
|
rs1057519396
|
|
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His)
|
rs2147617004
|
|
NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg)
|
rs2148016775
|
|
NM_001110792.2(MECP2):c.1147dup (p.His383fs)
|
rs1057519404
|
|
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)
|
rs267608399
|
|
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln)
|
rs886041767
|
|
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs)
|
rs1569290954
|
|
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly)
|
rs1928395285
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His)
|
rs2148495027
|
|
NM_001318510.2(ACSL4):c.473C>A (p.Ser158Tyr)
|
rs1924147806
|
|
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp)
|
rs2063923749
|
|
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)
|
rs2063876393
|
|
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg)
|
rs2063876594
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs)
|
rs2068755805
|
|
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu)
|
rs2147404496
|
|
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys)
|
rs886037836
|
|
NM_004187.5(KDM5C):c.2622+2dup
|
rs1057519393
|
|
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)
|
rs2067475470
|
|
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser)
|
rs2092334822
|
|
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg)
|
rs2092347481
|
|
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln)
|
rs2057892972
|
|
NM_007363.5(NONO):c.201_202dup (p.Lys68fs)
|
rs2148033408
|
|
NM_007363.5(NONO):c.279_282del (p.Phe94fs)
|
rs2148033495
|
|
NM_012280.4(FTSJ1):c.256del (p.Val86fs)
|
rs2061548936
|
|
NM_014271.4(IL1RAPL1):c.1891_1897del (p.Asp631fs)
|
rs2147259265
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|