| 基因名 | 突变 |
|---|---|
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45295116_45295117del,c.1172_1173del,p.391fs |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45294957G>A,c.1243C>T,p.R415W |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45294234C>T,c.1534G>A,p.A512T |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45294079A>G,c.1598T>C,p.I533T |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45293814C>T,c.1759G>A,p.G587R |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45293709G>T,c.1864C>A,p.H622N |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45293709G>A,c.1864C>T,p.H622Y |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45293182C>T,c.2263G>A,p.A755T |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45293182C>G,c.2263G>C,p.A755P |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45292943G>A,c.2410C>T,p.R804C |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45292934G>A,c.2419C>T,p.R807C |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45292921C>T,c.2432G>A,p.R811H |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45292697T>C,c.2572A>G,p.M858V |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45292234C>T,c.2902G>A,p.V968I |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45292204C>T,c.2932G>A,p.V978I |
| PTCH2(NM_001166292,patched 2,1146aa) | g.1:45292173G>A,c.2963C>T,p.T988M |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98240437G>C,c.1049C>G,p.T350S |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98238380T>C,c.1466A>G,p.N489S |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98231110G>A,c.1975C>T,p.P659S |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98231061G>A,c.2024C>T,p.A675V |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98229479T>C,c.2281A>G,p.S761G |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98224163C>T,c.2480G>A,p.R827H |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98221975C>T,c.2596G>A,p.V866I |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98220308G>A,c.2957C>T,p.T986M |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98211572T>A,c.3385A>T,p.T1129S |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98211463A>G,c.3494T>C,p.V1165A |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98211389C>T,c.3568G>A,p.V1190M |
| PTCH1(NM_001083602,patched 1,1381aa) | g.9:98209699G>A,c.3641C>T,p.S1214L |