| 基因名 | 突变 |
|---|---|
| UTP14A(NM_006649,UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast),771aa) | g.X:129053251G>A,c.638G>A,p.R213Q |
| UTP14A(NM_006649,UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast),771aa) | g.X:129045862A>G,c.502A>G,p.I168V |
| UTP14A(NM_006649,UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast),771aa) | g.X:129045772G>A,c.412G>A,p.A138T |
| UTP11L(NM_016037,UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast),253aa) | g.1:38489269T>C,c.731T>C,p.I244T |
| UTP11L(NM_016037,UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast),253aa) | g.1:38484795A>G,c.407A>G,p.H136R |
| UTP11L(NM_016037,UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast),253aa) | g.1:38484154A>G,c.247A>G,p.K83E |
| UTF1(NM_003577,undifferentiated embryonic cell transcription factor 1,341aa) | g.10:135044630G>A,c.710G>A,p.R237H |
| UTF1(NM_003577,undifferentiated embryonic cell transcription factor 1,341aa) | g.10:135044009G>A,c.217G>A,p.G73R |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149395146C>A,c.1115C>A,p.P372H |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149395128C>G,c.1097C>G,p.S366C |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149208155C>T,c.281C>T,p.P94L |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149068778C>T,c.212C>T,p.P71L |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149068711G>A,c.145G>A,p.G49S |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149068645G>A,c.79G>A,p.G27S |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149068627A>T,c.61A>T,p.M21L |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149068597G>C,c.31G>C,p.G11R |
| UST(NM_005715,uronyl-2-sulfotransferase,406aa) | g.6:149068576A>C,c.10A>C,p.K4Q |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31233381C>T,c.3167C>T,p.P1056L |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31233231C>T,c.3017C>T,p.P1006L |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31233222T>G,c.3008T>G,p.I1003S |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31233063G>A,c.2849G>A,p.S950N |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31232765T>G,c.2551T>G,p.L851V |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31232661G>A,c.2447G>A,p.R816H |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31232645G>A,c.2431G>A,p.V811I |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31232561A>G,c.2347A>G,p.I783V |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31232430C>G,c.2216C>G,p.S739C |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31231961A>G,c.1747A>G,p.I583V |
| USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) | g.13:31231806T>C,c.1592T>C,p.L531S |