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
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org