| 基因名 | 突变 |
|---|---|
| TPPP2(NM_173846,tubulin polymerization-promoting protein family member 2,170aa) | g.14:21499185G>A,c.188G>A,p.R63Q |
| TPPP2(NM_173846,tubulin polymerization-promoting protein family member 2,170aa) | g.14:21498871C>G,c.131C>G,p.T44R |
| TPPP2(NM_173846,tubulin polymerization-promoting protein family member 2,170aa) | g.14:21498771C>T,c.31C>T,p.R11W |
| TPP2(NM_003291,tripeptidyl peptidase II,1249aa) | g.13:103326836A>G,c.3536A>G,p.N1179S |
| TPP2(NM_003291,tripeptidyl peptidase II,1249aa) | g.13:103326719C>G,c.3419C>G,p.A1140G |
| TPP2(NM_003291,tripeptidyl peptidase II,1249aa) | g.13:103290659C>T,c.1907C>T,p.A636V |
| TPP2(NM_003291,tripeptidyl peptidase II,1249aa) | g.13:103288598G>A,c.1534G>A,p.V512I |
| TPP2(NM_003291,tripeptidyl peptidase II,1249aa) | g.13:103257149A>G,c.172A>G,p.T58A |
| TPP2(NM_003291,tripeptidyl peptidase II,1249aa) | g.13:103249509G>A,c.121G>A,p.A41T |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6640618G>T,c.14C>A,p.A5D |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6638944G>A,c.293C>T,p.T98M |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6638340G>A,c.553C>T,p.R185C |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6638271G>A,c.622C>T,p.R208X |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6638002C>T,c.776G>A,p.R259H |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6637982G>A,c.796C>T,p.R266W |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6637588T>G,c.1033A>C,p.M345L |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6636686C>T,c.1253G>A,p.R418Q |
| TPP1(NM_000391,tripeptidyl peptidase I,563aa) | g.11:6636153G>C,c.1495C>G,p.P499A |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1544464C>T,c.2717C>T,p.P906L |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1544394C>T,c.2647C>T,p.P883S |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1520676T>C,c.2540T>C,p.V847A |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1520672C>T,c.2536C>T,p.R846W |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1500456C>T,c.2305C>T,p.R769W |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1500438G>A,c.2287G>A,p.V763M |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1500393G>A,c.2242G>A,p.V748M |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1499927A>C,c.2173A>C,p.T725P |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1499870A>G,c.2116A>G,p.M706V |
| TPO(NM_000547,thyroid peroxidase,933aa) | g.2:1499771G>A,c.2017G>A,p.E673K |