NM_001429.4(EP300):c.2499G>A (p.Ser833=)
|
rs35560602
|
0.01700
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)
|
rs146242251
|
0.00070
|
NM_001429.4(EP300):c.6951G>A (p.Arg2317=)
|
rs139551099
|
0.00035
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
NM_001429.4(EP300):c.2380-18T>C
|
rs189468196
|
0.00028
|
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)
|
rs142758675
|
0.00011
|
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg)
|
rs138584705
|
0.00010
|
NM_001429.4(EP300):c.5598G>A (p.Pro1866=)
|
rs560633624
|
0.00009
|
NM_001429.4(EP300):c.2245A>G (p.Met749Val)
|
rs370478867
|
0.00007
|
NM_001429.4(EP300):c.2367T>C (p.Ala789=)
|
rs759989339
|
0.00004
|
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
|
rs749979249
|
0.00004
|
NM_001429.4(EP300):c.1781C>T (p.Thr594Met)
|
rs750740148
|
0.00002
|
NM_001429.4(EP300):c.1887C>T (p.Tyr629=)
|
rs144594889
|
0.00002
|
NM_001429.4(EP300):c.2513G>A (p.Arg838His)
|
rs774840930
|
0.00001
|
NC_000022.11:g.(?_41131368)_(41140277_?)del
|
|
|
NC_000022.11:g.(?_41151813)_(41152370_?)del
|
|
|
NC_000022.11:g.(?_41154975)_(41164150_?)del
|
|
|
NM_001429.4(EP300):c.104_107del (p.Ser35fs)
|
rs886037664
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
NM_001429.4(EP300):c.1878+1G>A
|
rs2058974109
|
|
NM_001429.4(EP300):c.3806+3A>G
|
rs1601629363
|
|
NM_001429.4(EP300):c.3875-2A>C
|
rs2145762711
|
|
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)
|
rs1569118537
|
|
NM_001429.4(EP300):c.4783T>A (p.Phe1595Ile)
|
rs1057517732
|
|
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln)
|
rs28937578
|
|
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)
|
rs1261612920
|
|
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe)
|
rs752065194
|
|
NM_001429.4(EP300):c.832del (p.Thr278fs)
|
rs2058879988
|
|