| 基因名 | 突变 |
|---|---|
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414338G>A,c.2005G>A,p.A669T |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414176C>T,c.1843C>T,p.R615W |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131414158C>A,c.1825C>A,p.H609N |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131369252G>C,c.147G>C,p.Q49H |
| POTEJ(NM_001277083,POTE ankyrin domain family, member J,1038aa) | g.2:131369215G>A,c.110G>A,p.G37E |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131266658C>T,c.151G>A,p.D51N |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131266613A>G,c.196T>C,p.C66R |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131258139G>A,c.887C>T,p.A296V |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131221662C>T,c.1955G>A,p.R652Q |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131221622C>T,c.1995G>A,p.M665I |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131221215T>A,c.2402A>T,p.H801L |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131221170C>T,c.2447G>A,p.R816H |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131221102T>C,c.2515A>G,p.M839V |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131220864T>A,c.2753A>T,p.Y918F |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131220831A>G,c.2786T>C,p.M929T |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131220828G>A,c.2789C>T,p.A930V |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131220742C>G,c.2875G>C,p.E959Q |
| POTEI(NM_001277406,POTE ankyrin domain family, member I,1075aa) | g.2:131220699C>T,c.2918G>A,p.G973D |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16287851G>A,c.35C>T,p.S12F |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16287789C>G,c.97G>C,p.A33P |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16287784C>T,c.102G>A,p.W34X |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16287579A>G,c.307T>C,p.C103R |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16287557C>G,c.329G>C,p.R110T |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16287538G>C,c.348C>G,p.N116K |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16287372C>T,c.514G>A,p.V172I |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16287369G>A,c.517C>T,p.R173C |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16277842C>T,c.1072G>A,p.V358I |
| POTEH(NM_001136213,POTE ankyrin domain family, member H,545aa) | g.22:16277775T>C,c.1139A>G,p.E380G |