| 基因名 | 突变 |
|---|---|
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84363031C>T,c.944G>A,p.G315D |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84363016C>T,c.959G>A,p.G320D |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84362764G>A,c.1211C>T,p.S404L |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84362731C>T,c.1244G>A,p.G415D |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84362650C>T,c.1325G>A,p.W442X |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84362401C>T,c.1574G>A,p.S525N |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84362339T>A,c.1636A>T,p.I546F |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84349207G>C,c.1803C>G,p.Y601X |
| SATB2(NM_001172509,SATB homeobox 2,733aa) | g.2:200213810A>G,c.787T>C,p.S263P |
| SATB1(NM_001195470,SATB homeobox 1,795aa) | g.3:18392819C>T,c.1861G>A,p.G621S |
| SAT2(NM_133491,spermidine/spermine N1-acetyltransferase family member 2,170aa) | g.17:7530288C>T,c.277G>A,p.D93N |
| SAT2(NM_133491,spermidine/spermine N1-acetyltransferase family member 2,170aa) | g.17:7529902G>A,c.376C>T,p.R126C |
| SAT2(NM_133491,spermidine/spermine N1-acetyltransferase family member 2,170aa) | g.17:7529901C>A,c.377G>T,p.R126L |
| SASS6(NM_194292,spindle assembly 6 homolog (C. elegans),657aa) | g.1:100591478C>T,c.86G>A,p.S29N |
| SASS6(NM_194292,spindle assembly 6 homolog (C. elegans),657aa) | g.1:100575941C>G,c.768G>C,p.E256D |
| SASS6(NM_194292,spindle assembly 6 homolog (C. elegans),657aa) | g.1:100575933G>A,c.776C>T,p.A259V |
| SASS6(NM_194292,spindle assembly 6 homolog (C. elegans),657aa) | g.1:100573191A>G,c.1139T>C,p.L380P |
| SASS6(NM_194292,spindle assembly 6 homolog (C. elegans),657aa) | g.1:100550937C>T,c.1921G>A,p.A641T |
| SASH3(NM_018990,SAM and SH3 domain containing 3,380aa) | g.X:128927681C>T,c.1016C>T,p.S339L |
| SASH3(NM_018990,SAM and SH3 domain containing 3,380aa) | g.X:128927644G>A,c.979G>A,p.A327T |
| SASH3(NM_018990,SAM and SH3 domain containing 3,380aa) | g.X:128926720G>A,c.709G>A,p.V237M |
| SASH3(NM_018990,SAM and SH3 domain containing 3,380aa) | g.X:128914099C>T,c.26C>T,p.A9V |
| SASH1(NM_015278,SAM and SH3 domain containing 1,1247aa) | g.6:148869636G>T,c.3686G>T,p.R1229I |
| SASH1(NM_015278,SAM and SH3 domain containing 1,1247aa) | g.6:148869557T>G,c.3607T>G,p.F1203V |
| SASH1(NM_015278,SAM and SH3 domain containing 1,1247aa) | g.6:148869462G>A,c.3512G>A,p.R1171Q |
| SASH1(NM_015278,SAM and SH3 domain containing 1,1247aa) | g.6:148867184C>A,c.3382C>A,p.Q1128K |
| SASH1(NM_015278,SAM and SH3 domain containing 1,1247aa) | g.6:148867175G>A,c.3373G>A,p.A1125T |
| SASH1(NM_015278,SAM and SH3 domain containing 1,1247aa) | g.6:148865872G>A,c.3266G>A,p.R1089Q |