基因名 |
突变 |
TGFA(NM_003236,transforming growth factor, alpha,160aa) |
g.2:70680410G>A,c.415C>T,p.R139W |
TGDS(NM_014305,TDP-glucose 4,6-dehydratase,350aa) |
g.13:95248357G>A,c.34C>T,p.L12F |
TFRC(NM_003234,transferrin receptor (p90, CD71),760aa) |
g.3:195800925T>C,c.310A>G,p.T104A |
TFRC(NM_003234,transferrin receptor (p90, CD71),760aa) |
g.3:195800811C>T,c.424G>A,p.G142S |
TFRC(NM_003234,transferrin receptor (p90, CD71),760aa) |
g.3:195798320G>C,c.634C>G,p.L212V |
TFRC(NM_003234,transferrin receptor (p90, CD71),760aa) |
g.3:195794420T>C,c.1009A>G,p.I337V |
TFRC(NM_003234,transferrin receptor (p90, CD71),760aa) |
g.3:195791279C>T,c.1219G>A,p.A407T |
TFRC(NM_003234,transferrin receptor (p90, CD71),760aa) |
g.3:195791240C>T,c.1258G>A,p.G420S |
TFRC(NM_003234,transferrin receptor (p90, CD71),760aa) |
g.3:195791191A>G,c.1307T>C,p.M436T |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100238661G>A,c.224C>T,p.A75V |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100238453G>A,c.329C>T,p.A110V |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100231063T>C,c.590A>G,p.Y197C |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100230864G>C,c.714C>G,p.I238M |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100229496C>T,c.1039G>A,p.A347T |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100229445C>T,c.1090G>A,p.A364T |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100229438C>T,c.1097G>A,p.R366H |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100228655G>T,c.1127C>A,p.A376D |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100228589C>T,c.1193G>A,p.R398Q |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100228576G>T,c.1206C>A,p.N402K |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100228533T>C,c.1249A>G,p.I417V |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100226902C>T,c.1364G>A,p.R455Q |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100225917C>T,c.1403G>A,p.R468H |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100225860G>A,c.1460C>T,p.T487M |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100225847C>T,c.1473G>A,p.E491E |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100225729C>T,c.1504G>A,p.V502I |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100225717T>C,c.1516A>G,p.S506G |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100225705C>T,c.1528G>A,p.A510T |
TFR2(NM_003227,transferrin receptor 2,801aa) |
g.7:100218631C>T,c.2255G>A,p.R752H |