| 基因名 | 突变 |
|---|---|
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89246686G>A,c.280G>A,p.V94I |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89246681G>A,c.275G>A,p.R92Q |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89245941G>A,c.160G>A,p.V54I |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89245933C>T,c.152C>T,p.P51L |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89245912G>A,c.131G>A,p.R44Q |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89245890G>T,c.109G>T,p.A37S |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83816871T>G,c.2069T>G,p.L690R |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83712011G>A,c.1624G>A,p.V542M |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83704438A>G,c.1286A>G,p.N429S |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83704419G>A,c.1267G>A,p.A423T |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83636197G>C,c.1240G>C,p.E414Q |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83636092G>C,c.1135G>C,p.E379Q |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83520169C>T,c.1010C>T,p.T337M |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83520160G>A,c.1001G>A,p.R334H |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83065794G>C,c.478G>C,p.G160R |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83065791G>A,c.475G>A,p.V159I |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83065752C>T,c.436C>T,p.R146W |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:83065689G>A,c.373G>A,p.D125N |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:82892037A>G,c.257A>G,p.N86S |
| CDH13(NM_001220488,cadherin 13,760aa) | g.16:82673047C>T,c.163C>T,p.P55S |
| CDH12(NM_004061,cadherin 12, type 2 (N-cadherin 2),794aa) | g.5:22078724G>A,c.62C>T,p.T21I |
| CDH12(NM_004061,cadherin 12, type 2 (N-cadherin 2),794aa) | g.5:22078686C>G,c.100G>C,p.E34Q |
| CDH12(NM_004061,cadherin 12, type 2 (N-cadherin 2),794aa) | g.5:22078650G>A,c.136C>T,p.R46W |
| CDH12(NM_004061,cadherin 12, type 2 (N-cadherin 2),794aa) | g.5:22078584C>T,c.202G>A,p.V68M |
| CDH12(NM_004061,cadherin 12, type 2 (N-cadherin 2),794aa) | g.5:21975242C>G,c.484G>C,p.D162H |
| CDH12(NM_004061,cadherin 12, type 2 (N-cadherin 2),794aa) | g.5:21854831C>T,c.595G>A,p.V199I |
| CDH12(NM_004061,cadherin 12, type 2 (N-cadherin 2),794aa) | g.5:21817206T>C,c.850A>G,p.I284V |
| CDH12(NM_004061,cadherin 12, type 2 (N-cadherin 2),794aa) | g.5:21802485C>A,c.1047G>T,p.E349D |