| 基因名 | 突变 |
|---|---|
| TM7SF3(NM_016551,transmembrane 7 superfamily member 3,570aa) | g.12:27156261C>G,c.154G>C,p.E52Q |
| TM7SF3(NM_016551,transmembrane 7 superfamily member 3,570aa) | g.12:27156182A>G,c.233T>C,p.V78A |
| TM7SF3(NM_016551,transmembrane 7 superfamily member 3,570aa) | g.12:27149714G>A,c.479C>T,p.T160M |
| TM7SF3(NM_016551,transmembrane 7 superfamily member 3,570aa) | g.12:27143508G>A,c.743C>T,p.P248L |
| TM7SF3(NM_016551,transmembrane 7 superfamily member 3,570aa) | g.12:27135794_27135795insA,c.869-2insT,p.290Acceptorins |
| TM7SF3(NM_016551,transmembrane 7 superfamily member 3,570aa) | g.12:27126977A>G,c.1634T>C,p.L545P |
| TM7SF2(NM_003273,transmembrane 7 superfamily member 2,418aa) | g.11:64882965A>G,c.991A>G,p.T331A |
| TM7SF2(NM_003273,transmembrane 7 superfamily member 2,418aa) | g.11:64882789C>T,c.896C>T,p.T299I |
| TM7SF2(NM_003273,transmembrane 7 superfamily member 2,418aa) | g.11:64882506C>T,c.845C>T,p.P282L |
| TM7SF2(NM_003273,transmembrane 7 superfamily member 2,418aa) | g.11:64882228G>A,c.647G>A,p.R216Q |
| TM7SF2(NM_003273,transmembrane 7 superfamily member 2,418aa) | g.11:64880767C>T,c.380C>T,p.P127L |
| TM7SF2(NM_003273,transmembrane 7 superfamily member 2,418aa) | g.11:64880743C>T,c.356C>T,p.A119V |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19381885C>A,c.145G>T,p.V49L |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19381246C>T,c.205G>A,p.A69T |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19380563A>C,c.417T>G,p.N139K |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19380513A>G,c.467T>C,p.L156P |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19379549C>T,c.499G>A,p.E167K |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19379464G>A,c.584C>T,p.A195V |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19378859G>A,c.647C>T,p.P216L |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19378803G>A,c.703C>T,p.R235W |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19377304C>T,c.919G>A,p.G307S |
| TM6SF2(NM_001001524,transmembrane 6 superfamily member 2,377aa) | g.19:19375583G>T,c.1024C>A,p.L342M |
| TM6SF1(NM_023003,transmembrane 6 superfamily member 1,370aa) | g.15:83781634C>T,c.178C>T,p.R60W |
| TM6SF1(NM_023003,transmembrane 6 superfamily member 1,370aa) | g.15:83781631C>T,c.175C>T,p.P59S |
| TM6SF1(NM_023003,transmembrane 6 superfamily member 1,370aa) | g.15:83781599T>G,c.143T>G,p.L48R |
| TM6SF1(NM_023003,transmembrane 6 superfamily member 1,370aa) | g.15:83776487G>T,c.55G>T,p.V19F |
| TM4SF5(NM_003963,transmembrane 4 L six family member 5,197aa) | g.17:4685913G>A,c.374G>A,p.G125D |
| TM4SF5(NM_003963,transmembrane 4 L six family member 5,197aa) | g.17:4684112G>A,c.206G>A,p.R69Q |