NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)
|
rs183855575
|
0.00012
|
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)
|
rs145732429
|
0.00006
|
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)
|
rs758125212
|
0.00004
|
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys)
|
rs758637644
|
0.00003
|
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)
|
rs372896387
|
0.00002
|
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val)
|
rs368975225
|
0.00002
|
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu)
|
rs1468262694
|
0.00002
|
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val)
|
rs558768145
|
0.00002
|
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser)
|
rs548852837
|
0.00001
|
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser)
|
rs761104318
|
0.00001
|
NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His)
|
rs747873220
|
0.00001
|
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr)
|
rs1216919340
|
0.00001
|
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp)
|
rs772413215
|
0.00001
|
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile)
|
rs984557516
|
0.00001
|
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter)
|
rs368965952
|
0.00001
|
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg)
|
rs1488271424
|
0.00001
|
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln)
|
rs751258086
|
0.00001
|
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn)
|
rs936181213
|
0.00001
|
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg)
|
rs149839441
|
0.00001
|
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser)
|
rs794727522
|
0.00001
|
NM_030665.4(RAI1):c.514C>T (p.His172Tyr)
|
rs143161740
|
0.00001
|
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg)
|
rs1411433335
|
0.00001
|
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)
|
|
|
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
|
|
|
NC_000001.10:g.4481271_20530242del
|
|
|
NC_000007.14:g.(75058300_?)_(?_79083658)del
|
|
|
NC_000014.9:g.20013858_20436718dup
|
|
|
NC_000015.10:g.22698177_(23120963_23380983)del
|
|
|
NC_000015.10:g.22804175_30375696dup
|
|
|
NC_000015.10:g.31722025_32224686dup
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser)
|
rs2073605317
|
|
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg)
|
rs768415150
|
|
NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe)
|
rs2073861256
|
|
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg)
|
rs2073227641
|
|
NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys)
|
rs760200525
|
|
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=)
|
rs2141368447
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.700+5290A>G
|
rs2105843329
|
|
NM_001372044.2(SHANK3):c.1124G>T (p.Arg375Leu)
|
rs2124372210
|
|
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val)
|
rs2124372229
|
|
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=)
|
rs1447758824
|
|
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu)
|
rs2083276245
|
|
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr)
|
rs1555910078
|
|
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg)
|
rs139186486
|
|
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys)
|
rs2105641052
|
|
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly)
|
rs1192078635
|
|
NM_001379200.1(TBX1):c.1459A>T (p.Met487Leu)
|
rs1936874664
|
|
NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser)
|
rs745976416
|
|
NM_002397.5(MEF2C):c.-142-25787T>G
|
rs2153377579
|
|
NM_006940.6(SOX5):c.1017G>A (p.Gln339=)
|
rs2138723102
|
|
NM_006940.6(SOX5):c.1343-4733C>T
|
rs1947477250
|
|
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
|
|
|
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp)
|
rs1841460217
|
|
NM_016628.5(WAC):c.275-22319G>T
|
rs2132485043
|
|
NM_016628.5(WAC):c.472dup (p.Glu158fs)
|
rs2132669368
|
|
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val)
|
rs2140716042
|
|
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)
|
rs201935129
|
|
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
|
|
|
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp)
|
rs2140713261
|
|
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
|
|
|
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser)
|
rs1357977229
|
|
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr)
|
rs779840896
|
|
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val)
|
rs2140718561
|
|
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
|
|
|
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
|
|
|
NM_022455.4:c.928-10312_3797-10414del
|
|
|
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys)
|
rs1761727286
|
|
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala)
|
rs1763234813
|
|
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp)
|
rs773782115
|
|
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile)
|
rs139085502
|
|
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe)
|
rs1465577289
|
|
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu)
|
rs1180409864
|
|
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val)
|
rs2127241862
|
|
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp)
|
rs2143002559
|
|
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp)
|
rs898986244
|
|
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln)
|
rs1317244394
|
|
NM_152989.5(SOX5):c.-1-87764T>C
|
rs1949815031
|
|
NM_152989.5(SOX5):c.-175-344A>G
|
rs2136240323
|
|
Single allele
|
|
|