| 基因名 | 突变 |
|---|---|
| SPTLC1(NM_006415,serine palmitoyltransferase, long chain base subunit 1,473aa) | g.9:94830356C>A,c.452G>T,p.R151L |
| SPTLC1(NM_006415,serine palmitoyltransferase, long chain base subunit 1,473aa) | g.9:94821472C>T,c.679G>A,p.E227K |
| SPTLC1(NM_006415,serine palmitoyltransferase, long chain base subunit 1,473aa) | g.9:94808306C>T,c.1111G>A,p.G371R |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65289773G>A,c.40C>T,p.P14S |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65271746C>T,c.211G>A,p.V71M |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65268950G>A,c.560C>T,p.T187M |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65266604C>T,c.925G>A,p.G309R |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65266547G>A,c.982C>T,p.R328C |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65266525G>A,c.1004C>T,p.T335M |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65266486C>T,c.1043G>A,p.R348H |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65266481C>T,c.1048G>A,p.V350M |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65264514C>T,c.1115G>A,p.R372Q |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65263343G>A,c.1273C>T,p.R425W |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65263318A>C,c.1298T>G,p.M433R |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65263300C>T,c.1316G>A,p.S439N |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65262276C>T,c.1423G>A,p.E475K |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65261251T>C,c.1729A>G,p.I577V |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65261215C>T,c.1765G>A,p.A589T |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65260543C>A,c.1838G>T,p.S613I |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65260321C>T,c.2060G>A,p.R687H |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65260264C>T,c.2117G>A,p.R706H |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65260231C>T,c.2150G>A,p.R717H |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65260078C>T,c.2303G>A,p.G768D |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65259950C>T,c.2431G>A,p.E811K |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65259901C>T,c.2480G>A,p.R827Q |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65259862C>T,c.2519G>A,p.R840H |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65253667C>T,c.3016G>A,p.A1006T |
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65253580G>A,c.3103C>T,p.R1035W |