| 基因名 | 突变 |
|---|---|
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45401890G>A,c.-248+1G>A,p.5'UTRDonor |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129140605C>T,c.91G>A,p.V31I |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129140589G>A,c.107C>T,p.P36L |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129140526C>T,c.170G>A,p.R57Q |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129140499T>C,c.197A>G,p.E66G |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129137245T>G,c.533A>C,p.Q178P |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129137188C>T,c.590G>A,p.R197H |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129134207A>C,c.719T>G,p.I240R |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129130197T>C,c.839A>G,p.H280R |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129130087C>T,c.949G>A,p.D317N |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129130071G>A,c.965C>T,p.T322M |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129130068C>T,c.968G>A,p.R323Q |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129130046C>T,c.990G>A,p.M330I |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129130023C>T,c.1013G>A,p.R338H |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129130018G>A,c.1018C>T,p.R340W |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129123183G>A,c.1313C>T,p.P438L |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129120581C>T,c.1574G>A,p.R525Q |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129120534G>A,c.1621C>T,p.P541S |
| EFCAB12(NM_207307,EF-hand calcium binding domain 12,572aa) | g.3:129120467T>C,c.1688A>G,p.Y563C |
| EFCAB11(NM_145231,EF-hand calcium binding domain 11,163aa) | g.14:90420961G>A,c.44C>T,p.A15V |
| EFCAB11(NM_145231,EF-hand calcium binding domain 11,163aa) | g.14:90398947T>C,c.242A>G,p.N81S |
| EFCAB11(NM_145231,EF-hand calcium binding domain 11,163aa) | g.14:90397912G>A,c.383C>T,p.P128L |
| EEPD1(NM_030636,endonuclease/exonuclease/phosphatase family domain containing 1,569aa) | g.7:36338762G>A,c.1657G>A,p.G553S |
| EEPD1(NM_030636,endonuclease/exonuclease/phosphatase family domain containing 1,569aa) | g.7:36327344C>T,c.1273C>T,p.R425W |
| EEPD1(NM_030636,endonuclease/exonuclease/phosphatase family domain containing 1,569aa) | g.7:36327335G>A,c.1264G>A,p.D422N |
| EEPD1(NM_030636,endonuclease/exonuclease/phosphatase family domain containing 1,569aa) | g.7:36327317C>T,c.1246C>T,p.P416S |
| EEPD1(NM_030636,endonuclease/exonuclease/phosphatase family domain containing 1,569aa) | g.7:36324352G>T,c.1099G>T,p.A367S |
| EEPD1(NM_030636,endonuclease/exonuclease/phosphatase family domain containing 1,569aa) | g.7:36324325G>T,c.1072G>T,p.A358S |