| 基因名 | 突变 |
|---|---|
| PMF1-BGLAP(NM_001199662,PMF1-BGLAP readthrough,211aa) | g.1:156206248G>A,c.538G>A,p.V180I |
| PMF1-BGLAP(NM_001199662,PMF1-BGLAP readthrough,211aa) | g.1:156206158C>T,c.448C>T,p.R150C |
| PMF1-BGLAP(NM_001199662,PMF1-BGLAP readthrough,211aa) | g.1:156206155C>T,c.445C>T,p.R149W |
| PMF1-BGLAP(NM_001199662,PMF1-BGLAP readthrough,211aa) | g.1:156206143C>T,c.433C>T,p.R145W |
| PMF1-BGLAP(NM_001199662,PMF1-BGLAP readthrough,211aa) | g.1:156206121G>A,c.411G>A,p.M137I |
| PMF1-BGLAP(NM_001199662,PMF1-BGLAP readthrough,211aa) | g.1:156202173A>G,c.224A>G,p.Q75R |
| PMEPA1(NM_020182,prostate transmembrane protein, androgen induced 1,287aa) | g.20:56284632G>T,c.7C>A,p.R3S |
| PMEPA1(NM_020182,prostate transmembrane protein, androgen induced 1,287aa) | g.20:56227589C>G,c.384G>C,p.E128D |
| PMEPA1(NM_020182,prostate transmembrane protein, androgen induced 1,287aa) | g.20:56227435G>A,c.538C>T,p.R180W |
| PMEPA1(NM_020182,prostate transmembrane protein, androgen induced 1,287aa) | g.20:56227170G>A,c.803C>T,p.P268L |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56351766C>T,c.572G>A,p.R191H |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56351764G>A,c.574C>T,p.R192W |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56351419C>T,c.668G>A,p.R223Q |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56351401T>C,c.686A>G,p.N229S |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56351272C>T,c.815G>A,p.R272Q |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56351207C>T,c.880G>A,p.A294T |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56351128G>T,c.959C>A,p.P320H |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56350977C>G,c.1110G>C,p.E370D |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56350921A>G,c.1166T>C,p.L389P |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56350747G>A,c.1340C>T,p.T447M |
| PMEL(NM_006928,premelanosome protein,661aa) | g.12:56349606C>T,c.1513G>A,p.G505S |
| PMAIP1(NM_021127,phorbol-12-myristate-13-acetate-induced protein 1,54aa) | g.18:57569944C>T,c.124C>T,p.L42F |
| PMAIP1(NM_021127,phorbol-12-myristate-13-acetate-induced protein 1,54aa) | g.18:57567461C>T,c.52C>T,p.P18S |
| PM20D2(NM_001010853,peptidase M20 domain containing 2,436aa) | g.6:89871861C>T,c.1190C>T,p.T397M |
| PM20D2(NM_001010853,peptidase M20 domain containing 2,436aa) | g.6:89871848T>A,c.1177T>A,p.Y393N |
| PM20D2(NM_001010853,peptidase M20 domain containing 2,436aa) | g.6:89871508C>T,c.1055C>T,p.T352M |
| PM20D2(NM_001010853,peptidase M20 domain containing 2,436aa) | g.6:89868128A>G,c.997A>G,p.K333E |
| PM20D2(NM_001010853,peptidase M20 domain containing 2,436aa) | g.6:89868078A>G,c.947A>G,p.N316S |