基因名 |
突变 |
TIMP1(NM_003254,TIMP metallopeptidase inhibitor 1,207aa) |
g.X:47446020G>A,c.554G>A,p.R185H |
TIMP1(NM_003254,TIMP metallopeptidase inhibitor 1,207aa) |
g.X:47445978C>T,c.512C>T,p.T171M |
TIMP1(NM_003254,TIMP metallopeptidase inhibitor 1,207aa) |
g.X:47445020G>A,c.407G>A,p.R136H |
TIMP1(NM_003254,TIMP metallopeptidase inhibitor 1,207aa) |
g.X:47444985T>C,c.372T>C,p.F124F |
TIMP1(NM_003254,TIMP metallopeptidase inhibitor 1,207aa) |
g.X:47444361C>T,c.148C>T,p.P50S |
TIMMDC1(NM_016589,translocase of inner mitochondrial membrane domain containing 1,285aa) |
g.3:119236104G>A,c.649G>A,p.V217I |
TIMMDC1(NM_016589,translocase of inner mitochondrial membrane domain containing 1,285aa) |
g.3:119232548T>C,c.578T>C,p.I193T |
TIMMDC1(NM_016589,translocase of inner mitochondrial membrane domain containing 1,285aa) |
g.3:119222427C>T,c.409C>T,p.R137C |
TIMMDC1(NM_016589,translocase of inner mitochondrial membrane domain containing 1,285aa) |
g.3:119219579T>C,c.232T>C,p.C78R |
TIMMDC1(NM_016589,translocase of inner mitochondrial membrane domain containing 1,285aa) |
g.3:119219573A>G,c.226A>G,p.N76D |
TIMMDC1(NM_016589,translocase of inner mitochondrial membrane domain containing 1,285aa) |
g.3:119217726A>G,c.146A>G,p.Y49C |
TIMM8B(NM_012459,translocase of inner mitochondrial membrane 8 homolog B (yeast),98aa) |
g.11:111956131C>T,c.185G>A,p.R62H |
TIMM50(NM_001001563,translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae),456aa) |
g.19:39980452C>T,c.1363C>T,p.Q455X |
TIMM50(NM_001001563,translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae),456aa) |
g.19:39980431C>T,c.1342C>T,p.R448C |
TIMM50(NM_001001563,translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae),456aa) |
g.19:39976406G>A,c.760G>A,p.V254I |
TIMM50(NM_001001563,translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae),456aa) |
g.19:39976232A>T,c.671A>T,p.D224V |
TIMM50(NM_001001563,translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae),456aa) |
g.19:39972581G>C,c.476G>C,p.G159A |
TIMM50(NM_001001563,translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae),456aa) |
g.19:39971519C>G,c.335C>G,p.S112W |
TIMM50(NM_001001563,translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae),456aa) |
g.19:39971432G>C,c.248G>C,p.S83T |
TIMM50(NM_001001563,translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae),456aa) |
g.19:39971401C>T,c.217C>T,p.P73S |
TIMM44(NM_006351,translocase of inner mitochondrial membrane 44 homolog (yeast),452aa) |
g.19:8006010G>A,c.118C>T,p.R40W |
TIMM44(NM_006351,translocase of inner mitochondrial membrane 44 homolog (yeast),452aa) |
g.19:8003040C>T,c.184G>A,p.G62S |
TIMM44(NM_006351,translocase of inner mitochondrial membrane 44 homolog (yeast),452aa) |
g.19:8003021T>C,c.203A>G,p.K68R |
TIMM44(NM_006351,translocase of inner mitochondrial membrane 44 homolog (yeast),452aa) |
g.19:8000021C>T,c.322G>A,p.E108K |
TIMM44(NM_006351,translocase of inner mitochondrial membrane 44 homolog (yeast),452aa) |
g.19:8000002G>A,c.341C>T,p.T114M |
TIMM44(NM_006351,translocase of inner mitochondrial membrane 44 homolog (yeast),452aa) |
g.19:7998749T>G,c.683A>C,p.E228A |
TIMM44(NM_006351,translocase of inner mitochondrial membrane 44 homolog (yeast),452aa) |
g.19:7998386G>C,c.753C>G,p.N251K |
TIMM44(NM_006351,translocase of inner mitochondrial membrane 44 homolog (yeast),452aa) |
g.19:7997559G>A,c.940C>T,p.R314W |