基因名 |
突变 |
WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) |
g.8:30938529A>G,c.986A>G,p.Q329R |
WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) |
g.8:30938513A>G,c.970A>G,p.T324A |
WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) |
g.8:30933799C>T,c.835C>T,p.R279W |
WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) |
g.8:30924654C>T,c.610C>T,p.P204S |
WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) |
g.8:30922481G>A,c.406G>A,p.A136T |
WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) |
g.8:30921935G>A,c.340G>A,p.V114I |
WRN(NM_000553,Werner syndrome, RecQ helicase-like,1432aa) |
g.8:30916058A>G,c.95A>G,p.K32R |
WRNIP1(NM_020135,Werner helicase interacting protein 1,665aa) |
g.6:2768965A>G,c.863A>G,p.H288R |
WRNIP1(NM_020135,Werner helicase interacting protein 1,665aa) |
g.6:2766613C>T,c.757C>T,p.R253C |
WRB(NM_004627,tryptophan rich basic protein,174aa) |
g.21:40763703C>T,c.277C>T,p.R93W |
WRB(NM_004627,tryptophan rich basic protein,174aa) |
g.21:40762696G>C,c.175G>C,p.E59Q |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3563279G>A,c.290C>T,p.S97L |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3553585C>T,c.490G>A,p.V164I |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3551783T>C,c.679A>G,p.K227E |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3550009G>A,c.875C>T,p.P292L |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3548854G>A,c.971C>T,p.T324I |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3548852C>G,c.973G>C,p.D325H |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3548834del,c.991del,p.331fs |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3548832G>C,c.993C>G,p.I331M |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3548122G>A,c.1148C>T,p.P383L |
WRAP73(NM_017818,WD repeat containing, antisense to TP73,460aa) |
g.1:3548050G>A,c.1220C>T,p.S407L |
WRAP53(NM_018081,WD repeat containing, antisense to TP53,548aa) |
g.17:7606722del,c.1565del,p.522fs |
WRAP53(NM_018081,WD repeat containing, antisense to TP53,548aa) |
g.17:7606722C>G,c.1565C>G,p.A522G |
WRAP53(NM_018081,WD repeat containing, antisense to TP53,548aa) |
g.17:7605865C>T,c.1159C>T,p.R387C |
WRAP53(NM_018081,WD repeat containing, antisense to TP53,548aa) |
g.17:7605746G>A,c.1040G>A,p.R347H |
WRAP53(NM_018081,WD repeat containing, antisense to TP53,548aa) |
g.17:7605066C>T,c.914C>T,p.T305M |
WRAP53(NM_018081,WD repeat containing, antisense to TP53,548aa) |
g.17:7604860A>G,c.815A>G,p.N272S |
WRAP53(NM_018081,WD repeat containing, antisense to TP53,548aa) |
g.17:7604778G>A,c.733G>A,p.V245M |