基因名 |
突变 |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33135515A>G,c.173T>C,p.I58T |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33135245C>T,c.443G>A,p.R148H |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33134930G>A,c.758C>T,p.S253L |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33134877C>T,c.811G>A,p.A271T |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33134757G>A,c.931C>T,p.R311W |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33134708_33134710del,c.978_980del,p.326_327del |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33134660T>C,c.1028A>G,p.H343R |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33134598T>C,c.1090A>G,p.I364V |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33134405C>T,c.1283G>A,p.G428D |
TMPPE(NM_001039770,transmembrane protein with metallophosphoesterase domain,453aa) |
g.3:33134330G>C,c.1358C>G,p.P453R |
TMPO(NM_001032283,thymopoietin,454aa) |
g.12:98941508G>A,c.1237G>A,p.V413I |
TMPO(NM_001032283,thymopoietin,454aa) |
g.12:98938295G>C,c.859G>C,p.A287P |
TMPO(NM_001032283,thymopoietin,454aa) |
g.12:98921754C>T,c.370C>T,p.L124F |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151146954G>C,c.193C>G,p.R65G |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151146938T>C,c.209A>G,p.Q70R |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151143970G>C,c.665C>G,p.A222G |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151143437G>A,c.829C>T,p.R277W |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151143141T>C,c.871-2A>G,p.291Acceptor |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151143097C>T,c.913G>A,p.V305M |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151143043C>T,c.967G>A,p.G323R |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151143036C>T,c.974G>A,p.R325Q |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151143016T>C,c.994A>G,p.M332V |
TMOD4(NM_013353,tropomodulin 4 (muscle),345aa) |
g.1:151142995G>A,c.1015C>T,p.R339C |
TMOD3(NM_014547,tropomodulin 3 (ubiquitous),352aa) |
g.15:52188707A>G,c.719A>G,p.N240S |
TMOD3(NM_014547,tropomodulin 3 (ubiquitous),352aa) |
g.15:52186062C>G,c.547C>G,p.P183A |
TMOD3(NM_014547,tropomodulin 3 (ubiquitous),352aa) |
g.15:52186051A>G,c.536A>G,p.E179G |
TMOD2(NM_014548,tropomodulin 2 (neuronal),351aa) |
g.15:52098583T>G,c.886T>G,p.L296V |
TMOD2(NM_014548,tropomodulin 2 (neuronal),351aa) |
g.15:52065948G>T,c.323G>T,p.R108L |