NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)
|
rs777751303
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)
|
rs1554085355
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.74_75del (p.Gln25fs)
|
rs1554067124
|
|
NM_000038.6(APC):c.835-17A>G
|
rs1580511131
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
NM_000038.6(APC):c.933+1G>A
|
rs876660765
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000368.5(TSC1):c.1029+1G>A
|
rs118203485
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
|
rs397514862
|
|
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)
|
rs397514879
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)
|
rs1555730197
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)
|
rs1174625611
|
|
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)
|
rs1236699193
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3397+1G>A
|
rs137854208
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)
|
rs137853993
|
|
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)
|
rs45517348
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5160+1G>A
|
rs45517399
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.976-15G>A
|
rs45517150
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)
|
rs121909627
|
|
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)
|
rs754081635
|
|
NM_181458.4(PAX3):c.812G>A (p.Arg271His)
|
rs774528745
|
|