| 基因名 | 突变 |
|---|---|
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158589105T>C,c.6437A>G,p.Q2146R |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158587833C>G,c.6544G>C,p.D2182H |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158585043G>A,c.6751C>T,p.R2251W |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158584091A>G,c.6794T>C,p.I2265T |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158583650C>T,c.6850G>A,p.D2284N |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158582673T>G,c.7068A>C,p.E2356D |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158582637C>A,c.7104G>T,p.K2368N |
| SPSB4(NM_080862,splA/ryanodine receptor domain and SOCS box containing 4,273aa) | g.3:140866041G>A,c.752G>A,p.R251H |
| SPSB4(NM_080862,splA/ryanodine receptor domain and SOCS box containing 4,273aa) | g.3:140785121G>A,c.175G>A,p.E59K |
| SPSB3(NM_080861,splA/ryanodine receptor domain and SOCS box containing 3,355aa) | g.16:1828030G>A,c.512C>T,p.S171L |
| SPSB3(NM_080861,splA/ryanodine receptor domain and SOCS box containing 3,355aa) | g.16:1827843C>A,c.626G>T,p.S209I |
| SPSB3(NM_080861,splA/ryanodine receptor domain and SOCS box containing 3,355aa) | g.16:1827142G>C,c.1024C>G,p.R342G |
| SPSB3(NM_080861,splA/ryanodine receptor domain and SOCS box containing 3,355aa) | g.16:1827133G>A,c.1033C>T,p.R345W |
| SPSB2(NM_032641,splA/ryanodine receptor domain and SOCS box containing 2,263aa) | g.12:6982162C>T,c.-96-1G>A,p.5'UTRAcceptor |
| SPSB2(NM_032641,splA/ryanodine receptor domain and SOCS box containing 2,263aa) | g.12:6980444A>G,c.704T>C,p.V235A |
| SPSB2(NM_032641,splA/ryanodine receptor domain and SOCS box containing 2,263aa) | g.12:6980442G>A,c.706C>T,p.R236C |
| SPSB1(NM_025106,splA/ryanodine receptor domain and SOCS box containing 1,273aa) | g.1:9427539C>T,c.727C>T,p.R243C |
| SPSB1(NM_025106,splA/ryanodine receptor domain and SOCS box containing 1,273aa) | g.1:9416387G>A,c.437G>A,p.R146H |
| SPRYD4(NM_207344,SPRY domain containing 4,207aa) | g.12:56863081T>C,c.344T>C,p.I115T |
| SPRYD4(NM_207344,SPRY domain containing 4,207aa) | g.12:56862905G>T,c.168G>T,p.L56F |
| SPRYD4(NM_207344,SPRY domain containing 4,207aa) | g.12:56862886T>C,c.149T>C,p.M50T |
| SPRYD4(NM_207344,SPRY domain containing 4,207aa) | g.12:56862863C>G,c.126C>G,p.S42R |
| SPRYD3(NM_032840,SPRY domain containing 3,442aa) | g.12:53467135C>T,c.628G>A,p.V210I |
| SPRYD3(NM_032840,SPRY domain containing 3,442aa) | g.12:53460222C>G,c.1070G>C,p.R357P |
| SPRYD3(NM_032840,SPRY domain containing 3,442aa) | g.12:53459632T>C,c.1313A>G,p.H438R |
| SPRY4(NM_030964,sprouty homolog 4 (Drosophila),322aa) | g.5:141694649C>T,c.94G>A,p.A32T |
| SPRY4(NM_030964,sprouty homolog 4 (Drosophila),322aa) | g.5:141694586G>A,c.157C>T,p.R53W |
| SPRY4(NM_030964,sprouty homolog 4 (Drosophila),322aa) | g.5:141694472G>A,c.271C>T,p.R91W |