NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)
|
rs1064796812
|
0.00002
|
NM_004606.5(TAF1):c.1417A>G (p.Asn473Asp)
|
rs200177996
|
0.00002
|
NM_031407.7(HUWE1):c.8809G>A (p.Gly2937Arg)
|
rs1370251359
|
0.00002
|
NM_000157.4(GBA1):c.695G>A (p.Gly232Glu)
|
rs1376479747
|
0.00001
|
NM_002547.3(OPHN1):c.1226G>A (p.Arg409His)
|
rs771624663
|
0.00001
|
NM_000489.6(ATRX):c.6653C>T (p.Pro2218Leu)
|
rs2147941337
|
|
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp)
|
rs1131690786
|
|
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)
|
rs786205208
|
|
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs)
|
rs2080116462
|
|
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)
|
rs2065902096
|
|
NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro)
|
rs2148341883
|
|
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter)
|
rs2052539418
|
|
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
NM_001367721.1(CASK):c.533-5T>G
|
rs2147479605
|
|
NM_001367721.1(CASK):c.915+1G>A
|
rs2147368049
|
|
NM_001394073.1(HS6ST2):c.1182G>C (p.Arg394Ser)
|
rs1448659572
|
|
NM_002547.3(OPHN1):c.812A>G (p.Tyr271Cys)
|
rs2077578419
|
|
NM_004606.5(TAF1):c.2119C>T (p.Arg707Trp)
|
rs2148297957
|
|
NM_004606.5(TAF1):c.2806A>G (p.Thr936Ala)
|
rs1014764751
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)
|
rs2147830593
|
|
NM_005120.3(MED12):c.728T>C (p.Met243Thr)
|
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_031206.7(LAS1L):c.1298C>T (p.Thr433Ile)
|
rs2068997748
|
|
NM_031407.7(HUWE1):c.646-1G>A
|
rs2149065229
|
|
NM_031407.7(HUWE1):c.9166A>C (p.Met3056Leu)
|
rs2147292812
|
|