| 基因名 | 突变 |
|---|---|
| PHTF1(NM_006608,putative homeodomain transcription factor 1,762aa) | g.1:114281367C>T,c.157G>A,p.V53I |
| PHTF1(NM_006608,putative homeodomain transcription factor 1,762aa) | g.1:114280825G>A,c.238C>T,p.R80X |
| PHTF1(NM_006608,putative homeodomain transcription factor 1,762aa) | g.1:114255975G>T,c.709C>A,p.Q237K |
| PHTF1(NM_006608,putative homeodomain transcription factor 1,762aa) | g.1:114255905C>T,c.779G>A,p.R260H |
| PHTF1(NM_006608,putative homeodomain transcription factor 1,762aa) | g.1:114254442T>C,c.973A>G,p.T325A |
| PHTF1(NM_006608,putative homeodomain transcription factor 1,762aa) | g.1:114252968G>A,c.1177C>T,p.R393W |
| PHTF1(NM_006608,putative homeodomain transcription factor 1,762aa) | g.1:114248691G>A,c.1492C>T,p.R498C |
| PHTF1(NM_006608,putative homeodomain transcription factor 1,762aa) | g.1:114247301C>T,c.1790G>A,p.R597H |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:610724C>T,c.4637C>T,p.A1546V |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:610529C>T,c.4442C>T,p.P1481L |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:610277T>C,c.4343T>C,p.V1448A |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:609591C>G,c.4132C>G,p.Q1378E |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:609577C>T,c.4118C>T,p.A1373V |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:609508C>T,c.4049C>T,p.A1350V |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:609157C>T,c.3698C>T,p.T1233M |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:609148A>C,c.3689A>C,p.E1230A |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608929G>A,c.3470G>A,p.R1157Q |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608914C>T,c.3455C>T,p.A1152V |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608890G>A,c.3431G>A,p.R1144Q |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608719C>G,c.3260C>G,p.T1087R |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608712C>T,c.3253C>T,p.R1085W |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608593G>A,c.3134G>A,p.R1045Q |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608554C>T,c.3095C>T,p.A1032V |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608503_608514del,c.3044_3055del,p.1015_1019del |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:608013G>A,c.2554G>A,p.G852S |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:607687A>G,c.2228A>G,p.H743R |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:607680G>A,c.2221G>A,p.G741R |
| PHRF1(NM_020901,PHD and ring finger domains 1,1648aa) | g.11:607560C>A,c.2101C>A,p.Q701K |