基因名 |
突变 |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1497657G>A,c.1852G>A,p.V618M |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1497618A>T,c.1813A>T,p.T605S |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1488616A>C,c.1587A>C,p.L529F |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1481315C>G,c.1277C>G,p.A426G |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1481315C>A,c.1277C>A,p.A426E |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1481231G>C,c.1193G>C,p.S398T |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1481155G>T,c.1117G>T,p.A373S |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1481120G>T,c.1082G>T,p.R361L |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1460004G>T,c.769G>T,p.A257S |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1440117C>T,c.443C>T,p.A148V |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1440078C>A,c.404C>A,p.P135H |
TPO(NM_000547,thyroid peroxidase,933aa) |
g.2:1426835G>A,c.113G>A,p.R38H |
TPMT(NM_000367,thiopurine S-methyltransferase,245aa) |
g.6:18148069G>A,c.218C>T,p.A73V |
TPMT(NM_000367,thiopurine S-methyltransferase,245aa) |
g.6:18143955C>G,c.238G>C,p.A80P |
TPMT(NM_000367,thiopurine S-methyltransferase,245aa) |
g.6:18143949G>A,c.244C>T,p.R82W |
TPMT(NM_000367,thiopurine S-methyltransferase,245aa) |
g.6:18139228C>T,c.460G>A,p.A154T |
TPMT(NM_000367,thiopurine S-methyltransferase,245aa) |
g.6:18134121C>T,c.495-1G>A,p.165Acceptor |
TPMT(NM_000367,thiopurine S-methyltransferase,245aa) |
g.6:18134076T>A,c.539A>T,p.Y180F |
TPMT(NM_000367,thiopurine S-methyltransferase,245aa) |
g.6:18130918T>C,c.719A>G,p.Y240C |
TPM4(NM_003290,tropomyosin 4,248aa) |
g.19:16192802C>T,c.212C>T,p.A71V |
TPM2(NM_003289,tropomyosin 2 (beta),284aa) |
g.9:35689141A>C,c.240+2T>G,p.80Donor |
TPM2(NM_003289,tropomyosin 2 (beta),284aa) |
g.9:35683240_35683241insGG,c.773-2insCC,p.258Acceptorins |
TPM2(NM_003289,tropomyosin 2 (beta),284aa) |
g.9:35683240_35683241insG,c.773-2insC,p.258Acceptorins |
TPK1(NM_022445,thiamin pyrophosphokinase 1,243aa) |
g.7:144462990C>T,c.98G>A,p.R33H |
TPK1(NM_022445,thiamin pyrophosphokinase 1,243aa) |
g.7:144288526A>G,c.491T>C,p.L164P |
TPK1(NM_022445,thiamin pyrophosphokinase 1,243aa) |
g.7:144150706C>T,c.664G>A,p.D222N |
TPI1(NM_001258026,triosephosphate isomerase 1,167aa) |
g.12:6978857G>A,c.217G>A,p.V73M |
TPI1(NM_001258026,triosephosphate isomerase 1,167aa) |
g.12:6978480T>C,c.137T>C,p.I46T |