| 基因名 | 突变 |
|---|---|
| PTPN7(NM_002832,protein tyrosine phosphatase, non-receptor type 7,465aa) | g.1:202123390G>A,c.845C>T,p.S282L |
| PTPN7(NM_002832,protein tyrosine phosphatase, non-receptor type 7,465aa) | g.1:202122869C>T,c.1016G>A,p.R339Q |
| PTPN7(NM_002832,protein tyrosine phosphatase, non-receptor type 7,465aa) | g.1:202119521C>T,c.1222G>A,p.A408T |
| PTPN7(NM_002832,protein tyrosine phosphatase, non-receptor type 7,465aa) | g.1:202119514C>T,c.1229G>A,p.R410Q |
| PTPN6(NM_080549,protein tyrosine phosphatase, non-receptor type 6,624aa) | g.12:7069864C>G,c.1712C>G,p.P571R |
| PTPN6(NM_080549,protein tyrosine phosphatase, non-receptor type 6,624aa) | g.12:7069836T>C,c.1684T>C,p.S562P |
| PTPN6(NM_080549,protein tyrosine phosphatase, non-receptor type 6,624aa) | g.12:7067226G>A,c.1351G>A,p.V451M |
| PTPN6(NM_080549,protein tyrosine phosphatase, non-receptor type 6,624aa) | g.12:7066856C>T,c.1114C>T,p.R372C |
| PTPN6(NM_080549,protein tyrosine phosphatase, non-receptor type 6,624aa) | g.12:7064123C>T,c.482C>T,p.P161L |
| PTPN6(NM_080549,protein tyrosine phosphatase, non-receptor type 6,624aa) | g.12:7064025C>T,c.384C>T,p.128CrypticDonor |
| PTPN6(NM_080549,protein tyrosine phosphatase, non-receptor type 6,624aa) | g.12:7060861G>A,c.98G>A,p.R33H |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18765666G>A,c.178C>T,p.P60S |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18765648A>G,c.196T>C,p.S66P |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18764044G>A,c.394C>T,p.H132Y |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18764026G>C,c.412C>G,p.P138A |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18763895C>G,c.543G>C,p.E181D |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18762242G>A,c.727C>T,p.R243C |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18762217C>T,c.752G>A,p.R251H |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18754867C>G,c.1037G>C,p.S346T |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18751286G>C,c.1313C>G,p.P438R |
| PTPN5(NM_001278236,protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched),533aa) | g.11:18750497T>C,c.1586A>G,p.H529R |
| PTPN4(NM_002830,protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte),926aa) | g.2:120734635A>T,c.2770A>T,p.T924S |
| PTPN4(NM_002830,protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte),926aa) | g.2:120712838G>A,c.1919G>A,p.R640Q |
| PTPN4(NM_002830,protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte),926aa) | g.2:120692467G>A,c.1288G>A,p.E430K |
| PTPN4(NM_002830,protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte),926aa) | g.2:120690071A>G,c.1142A>G,p.D381G |
| PTPN4(NM_002830,protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte),926aa) | g.2:120658328T>C,c.710T>C,p.M237T |
| PTPN4(NM_002830,protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte),926aa) | g.2:120640084C>A,c.472C>A,p.L158I |
| PTPN4(NM_002830,protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte),926aa) | g.2:120620206C>T,c.233C>T,p.S78F |