| 基因名 | 突变 |
|---|---|
| TMTC2(NM_152588,transmembrane and tetratricopeptide repeat containing 2,836aa) | g.12:83360729A>G,c.1901A>G,p.Q634R |
| TMTC2(NM_152588,transmembrane and tetratricopeptide repeat containing 2,836aa) | g.12:83359384C>T,c.1730C>T,p.T577M |
| TMTC2(NM_152588,transmembrane and tetratricopeptide repeat containing 2,836aa) | g.12:83290083G>A,c.1141G>A,p.V381I |
| TMTC2(NM_152588,transmembrane and tetratricopeptide repeat containing 2,836aa) | g.12:83289983G>T,c.1041G>T,p.Q347H |
| TMTC2(NM_152588,transmembrane and tetratricopeptide repeat containing 2,836aa) | g.12:83289885G>A,c.943G>A,p.A315T |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29904791A>C,c.422T>G,p.L141R |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29904621G>A,c.592C>T,p.R198X |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29786126G>A,c.758C>T,p.A253V |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29786124C>T,c.760G>A,p.V254I |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29709853T>C,c.1289A>G,p.Q430R |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29671479G>T,c.1626C>A,p.H542Q |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29671406G>A,c.1699C>T,p.R567C |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29659799G>A,c.2305C>T,p.R769X |
| TMTC1(NM_175861,transmembrane and tetratricopeptide repeat containing 1,774aa) | g.12:29659798C>T,c.2306G>A,p.R769Q |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2426054A>G,c.3148A>G,p.R1050G |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2425968G>A,c.3062G>A,p.R1021Q |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2425196G>A,c.2812G>A,p.E938K |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2425184A>G,c.2800A>G,p.I934V |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2424194C>T,c.2554C>T,p.R852C |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2422191G>A,c.2392G>A,p.G798R |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2422177G>A,c.2378G>A,p.S793N |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2422036C>T,c.2237C>T,p.S746L |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2421946A>C,c.2147A>C,p.K716T |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2416796A>G,c.1904A>G,p.Q635R |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2416756G>A,c.1864G>A,p.V622M |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2416601C>T,c.1709C>T,p.P570L |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2415793G>A,c.1597G>A,p.V533M |
| TMPRSS9(NM_182973,transmembrane protease, serine 9,1059aa) | g.19:2413911G>A,c.1366G>A,p.A456T |