NM_001429.4(EP300):c.*745del
|
rs532524940
|
0.00291
|
NM_001429.4(EP300):c.444G>A (p.Thr148=)
|
rs376779611
|
0.00022
|
NM_001429.4(EP300):c.6912C>T (p.Ser2304=)
|
rs113329190
|
0.00006
|
NM_001429.4(EP300):c.1508T>C (p.Met503Thr)
|
rs1185038602
|
0.00001
|
NM_001429.4(EP300):c.*1083_*1085del
|
rs561433394
|
|
NM_001429.4(EP300):c.*340dup
|
rs561569141
|
|
NM_001429.4(EP300):c.*40_*44del
|
rs751376755
|
|
NM_001429.4(EP300):c.*591_*592dup
|
rs60283061
|
|
NM_001429.4(EP300):c.*592del
|
rs60283061
|
|
NM_001429.4(EP300):c.*592dup
|
rs60283061
|
|
NM_001429.4(EP300):c.*785_*786del
|
rs886057577
|
|
NM_001429.4(EP300):c.*921dup
|
rs1161532977
|
|
NM_001429.4(EP300):c.*922_*930delinsC
|
rs1555912614
|
|
NM_001429.4(EP300):c.*922_*930delinsCCC
|
rs1555912614
|
|
NM_001429.4(EP300):c.*922_*932delinsC
|
rs886057580
|
|
NM_001429.4(EP300):c.*922_*932delinsCCC
|
rs886057580
|
|
NM_001429.4(EP300):c.*922_*938delinsC
|
rs886057581
|
|
NM_001429.4(EP300):c.*922_*942delinsC
|
rs1555912616
|
|
NM_001429.4(EP300):c.*922_*942delinsCC
|
rs1555912616
|
|
NM_001429.4(EP300):c.*926AC[18]
|
rs59721178
|
|
NM_001429.4(EP300):c.*926AC[20]
|
rs59721178
|
|
NM_001429.4(EP300):c.*926AC[22]
|
rs59721178
|
|
NM_001429.4(EP300):c.*926AC[23]
|
rs59721178
|
|
NM_001429.4(EP300):c.1516A>G (p.Met506Val)
|
rs886057556
|
|
NM_001429.4(EP300):c.2242-6_2242-4del
|
rs747710183
|
|
NM_001429.4(EP300):c.3143-4del
|
rs757931697
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu)
|
rs2053544204
|
|
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)
|
rs2053254528
|
|
NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr)
|
rs1596895058
|
|
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)
|
rs2151304304
|
|
NM_004380.3(CREBBP):c.6454C>T (p.Pro2152Ser)
|
rs773348705
|
|