| 基因名 | 突变 |
|---|---|
| PAMR1(NM_015430,peptidase domain containing associated with muscle regeneration 1,737aa) | g.11:35454334G>A,c.1784C>T,p.P595L |
| PAMR1(NM_015430,peptidase domain containing associated with muscle regeneration 1,737aa) | g.11:35454215G>A,c.1903C>T,p.R635C |
| PAMR1(NM_015430,peptidase domain containing associated with muscle regeneration 1,737aa) | g.11:35454214C>T,c.1904G>A,p.R635H |
| PAMR1(NM_015430,peptidase domain containing associated with muscle regeneration 1,737aa) | g.11:35454046G>A,c.2072C>T,p.P691L |
| PAMR1(NM_015430,peptidase domain containing associated with muscle regeneration 1,737aa) | g.11:35454040C>T,c.2078G>A,p.R693Q |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102364752G>A,c.2908G>A,p.A970T |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102363894G>C,c.2698G>C,p.E900Q |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102353089A>C,c.2383A>C,p.I795L |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102345565C>T,c.2326C>T,p.R776C |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102345489_102345490insG,c.2250_2251insG,p.750fs |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102343253C>T,c.2107C>T,p.R703W |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102338811A>G,c.1688A>G,p.D563G |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102338739C>G,c.1616C>G,p.S539W |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102310130A>C,c.1473A>C,p.E491D |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102309859G>A,c.1202G>A,p.R401K |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102295724G>A,c.1051G>A,p.V351M |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102282589C>T,c.575C>T,p.P192L |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102260735G>A,c.431G>A,p.R144Q |
| PAM(NM_000919,peptidylglycine alpha-amidating monooxygenase,974aa) | g.5:102203032G>C,c.145G>C,p.V49L |
| PALM(NM_002579,paralemmin,387aa) | g.19:746627C>T,c.977C>T,p.A326V |
| PALM(NM_002579,paralemmin,387aa) | g.19:746624C>T,c.974C>T,p.T325M |
| PALM(NM_002579,paralemmin,387aa) | g.19:746498C>T,c.848C>T,p.A283V |
| PALM(NM_002579,paralemmin,387aa) | g.19:746386G>A,c.736G>A,p.E246K |
| PALM(NM_002579,paralemmin,387aa) | g.19:746311G>A,c.661G>A,p.E221K |
| PALM(NM_002579,paralemmin,387aa) | g.19:740436G>A,c.587G>A,p.R196Q |
| PALM(NM_002579,paralemmin,387aa) | g.19:734174C>T,c.422C>T,p.T141M |
| PALM(NM_002579,paralemmin,387aa) | g.19:731180C>T,c.355C>T,p.R119W |
| PALM(NM_002579,paralemmin,387aa) | g.19:731144A>G,c.319A>G,p.T107A |