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_022455.5(NSD1):c.3311A>G (p.His1104Arg)
|
rs758125212
|
0.00004
|
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser)
|
rs548852837
|
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_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
|
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.700+5290A>G
|
rs2105843329
|
|
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg)
|
rs139186486
|
|
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys)
|
rs2105641052
|
|
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_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_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
|
|
|