NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)
|
rs61754648
|
0.00181
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro)
|
rs142515048
|
0.00039
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)
|
rs766665093
|
0.00001
|
NM_016111.4(TELO2):c.1842+5G>A
|
rs758551997
|
0.00001
|
NM_000304.4(PMP22):c.78+3G>T
|
rs1597635528
|
|
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys)
|
rs1564405163
|
|
NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)
|
rs2131488863
|
|
NM_001002295.2(GATA3):c.708del (p.Ser237fs)
|
rs771019738
|
|
NM_001002295.2(GATA3):c.925-3_925-2del
|
rs763236375
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.474-2A>G
|
rs1574566973
|
|
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter)
|
rs1574532452
|
|
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys)
|
rs1448983984
|
|
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val)
|
rs1574476665
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln)
|
rs1296916399
|
|
NM_001378414.1(HDAC4):c.95-98del
|
rs74761897
|
|
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)
|
rs2147306077
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)
|
rs1432291994
|
|
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)
|
rs1761818173
|
|
NM_004715.5(CTDP1):c.2418-207_2418-165dup
|
rs147933855
|
|
NM_006940.6(SOX5):c.1489-2A>G
|
rs2136075793
|
|
NM_006940.6(SOX5):c.1681A>C (p.Asn561His)
|
rs1591908568
|
|
NM_022455.5(NSD1):c.1237-90del
|
rs11322143
|
|
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)
|
rs1299932363
|
|
NM_022455.5(NSD1):c.1743del (p.Glu581fs)
|
rs794729232
|
|
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)
|
rs2149846817
|
|
NM_022455.5(NSD1):c.3922-1G>C
|
rs1581407682
|
|
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)
|
rs1581408152
|
|
NM_022455.5(NSD1):c.4193-1G>A
|
rs1581411423
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
NM_022455.5(NSD1):c.4966+96dup
|
rs373383515
|
|
NM_022455.5(NSD1):c.5303+1G>A
|
rs587784141
|
|
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)
|
rs1581527842
|
|
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)
|
rs1581535570
|
|
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)
|
rs587784192
|
|
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln)
|
rs2127279165
|
|
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)
|
rs1581563059
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
NM_078480.3(PUF60):c.208-1G>A
|
rs1229324113
|
|
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer)
|
rs1586590135
|
|
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter)
|
rs1464053660
|
|
NM_078480.3(PUF60):c.382_383del (p.Met128fs)
|
rs2130258214
|
|
NM_172349.5(NSD1):c.-151+112_-151+113del
|
rs1581082075
|
|