| 基因名 | 突变 |
|---|---|
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15522455C>G,c.372G>C,p.W124C |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15518979A>T,c.650T>A,p.L217H |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15517284G>C,c.734C>G,p.A245G |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15517237G>C,c.781C>G,p.L261V |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15516019G>A,c.1118C>T,p.T373M |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15510988T>C,c.1132A>G,p.N378D |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15510888G>A,c.1232C>T,p.T411M |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15501936G>A,c.1465C>T,p.R489X |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15498123C>G,c.1786G>C,p.V596L |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15498089C>T,c.1820G>A,p.R607H |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15496745G>A,c.1912C>T,p.R638X |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15496730A>G,c.1927T>C,p.F643L |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15496727T>G,c.1930A>C,p.N644H |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15492426C>T,c.2122G>A,p.V708M |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15492410G>A,c.2138C>T,p.A713V |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14140137C>G,c.14G>C,p.C5S |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14140081G>A,c.70C>T,p.R24X |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14140080C>T,c.71G>A,p.R24Q |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14140038G>A,c.113C>T,p.S38L |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139907T>G,c.244A>C,p.I82L |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139906A>G,c.245T>C,p.I82T |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139891A>T,c.260T>A,p.L87H |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139891A>C,c.260T>G,p.L87R |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139888C>T,c.262+1G>A,p.88Donor |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139739G>A,c.271C>T,p.P91S |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139702G>A,c.308C>T,p.A103V |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139300A>G,c.440T>C,p.L147P |
| CDRT15(NM_001007530,CMT1A duplicated region transcript 15,188aa) | g.17:14139235G>A,c.505C>T,p.R169W |