| 基因名 | 突变 |
|---|---|
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23707222C>T,c.1747G>A,p.V583I |
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23707215C>T,c.1754G>A,p.R585Q |
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23706607G>A,c.1858C>T,p.P620S |
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23706199G>T,c.2094C>A,p.S698R |
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23703540G>A,c.2357C>T,p.A786V |
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23702479G>A,c.2683C>T,p.R895X |
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23702351C>T,c.2726G>A,p.R909K |
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23702246G>C,c.2831C>G,p.A944G |
| ERN2(NM_033266,endoplasmic reticulum to nucleus signaling 2,974aa) | g.16:23702180C>G,c.2897G>C,p.R966T |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62141505C>T,c.928G>A,p.G310S |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62141411T>C,c.1022A>G,p.K341R |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62135320C>T,c.1240G>A,p.A414T |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62135308C>T,c.1252G>A,p.V418M |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62135281C>T,c.1279G>A,p.A427T |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62133286A>C,c.1421T>G,p.L474R |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62133160G>A,c.1547C>T,p.P516L |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62132174C>T,c.1687G>A,p.V563M |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62122734C>T,c.2638G>A,p.V880I |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62121544T>C,c.2738A>G,p.E913G |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62121526C>T,c.2756G>A,p.R919Q |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62121494C>T,c.2788G>A,p.V930M |
| ERN1(NM_001433,endoplasmic reticulum to nucleus signaling 1,977aa) | g.17:62121452T>C,c.2830A>G,p.T944A |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5832928G>C,c.100C>G,p.R34G |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5832840C>T,c.188G>A,p.G63D |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5832719G>C,c.309C>G,p.H103Q |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5811284G>C,c.1154C>G,p.S385C |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5811272G>C,c.1166C>G,p.A389G |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5811257T>C,c.1181A>G,p.Y394C |