| 基因名 | 突变 |
|---|---|
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209693G>C,c.3647C>G,p.P1216R |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209693G>A,c.3647C>T,p.P1216L |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209649G>A,c.3691C>T,p.R1231W |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209631G>A,c.3709C>T,p.R1237C |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209594G>A,c.3746C>T,p.P1249L |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209511C>T,c.3829G>A,p.G1277R |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209328T>C,c.4012A>G,p.T1338A |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209298C>T,c.4042G>A,p.V1348M |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209214G>A,c.4126C>T,p.R1376W |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86364653A>G,c.2041A>G,p.S681G |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86364629A>C,c.2017A>C,p.S673R |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86359517T>C,c.1343T>C,p.I448T |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86359514T>A,c.1340T>A,p.F447Y |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86359484G>A,c.1310G>A,p.G437D |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86352127C>A,c.726C>A,p.N242K |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86348656A>G,c.593A>G,p.Y198C |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86348652T>C,c.589T>C,p.Y197H |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86346138T>G,c.509T>G,p.V170G |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86346119A>G,c.490A>G,p.R164G |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86344281C>T,c.413C>T,p.P138L |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86344179G>A,c.311G>A,p.R104H |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86338249G>A,c.208G>A,p.V70I |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86333401G>T,c.31G>T,p.G11C |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86333392C>T,c.22C>T,p.R8C |
| PTCD3(NM_017952,pentatricopeptide repeat domain 3,689aa) | g.2:86333387C>T,c.17C>T,p.A6V |
| PTCD2(NM_024754,pentatricopeptide repeat domain 2,388aa) | g.5:71654202T>A,c.1115T>A,p.M372K |
| PTCD2(NM_024754,pentatricopeptide repeat domain 2,388aa) | g.5:71627167C>G,c.433C>G,p.L145V |
| PTCD2(NM_024754,pentatricopeptide repeat domain 2,388aa) | g.5:71627135C>T,c.401C>T,p.P134L |