| 基因名 | 突变 |
|---|---|
| EFCAB14(NM_014774,EF-hand calcium binding domain 14,495aa) | g.1:47150183G>A,c.1166C>T,p.P389L |
| EFCAB14(NM_014774,EF-hand calcium binding domain 14,495aa) | g.1:47149007C>G,c.1277G>C,p.R426T |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45517841G>A,c.2683G>A,p.D895N |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45490253A>G,c.2393A>G,p.N798S |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45479549G>A,c.1997G>A,p.R666H |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45479497_45479498insA,c.1946insA,p.649fs |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45473344_45473347del,c.1945+1del,p.649Donordel |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45473265T>G,c.1867T>G,p.W623G |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45473241G>A,c.1843G>A,p.E615K |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45473229G>A,c.1831G>A,p.D611N |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45471394C>G,c.1730C>G,p.T577R |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45468897C>G,c.1677C>G,p.Y559X |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45468871A>G,c.1651A>G,p.T551A |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45468858T>G,c.1638T>G,p.Y546X |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45468842A>T,c.1622A>T,p.D541V |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45455183A>C,c.1424A>C,p.E475A |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45452306C>T,c.1346C>T,p.T449M |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45452257A>T,c.1297A>T,p.K433X |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45451894G>A,c.934G>A,p.V312I |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45447832A>G,c.835A>G,p.I279V |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45447802G>A,c.806-1G>A,p.269Acceptor |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45438887_45438890del,c.805del,p.269fs |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45438788C>T,c.706C>T,p.R236X |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45425287C>T,c.631C>T,p.R211X |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45425284A>G,c.628A>G,p.M210V |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45425209C>T,c.553C>T,p.R185X |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45421549C>A,c.325C>A,p.L109M |
| EFCAB13(NM_152347,EF-hand calcium binding domain 13,973aa) | g.17:45412629C>T,c.98C>T,p.T33I |