基因名 突变
NFE2L2(NM_006164,nuclear factor, erythroid 2-like 2,605aa) g.2:178095985C>T,c.1346G>A,p.R449H
NFE2L1(NM_003204,nuclear factor, erythroid 2-like 1,772aa) g.17:46136872G>A,c.2188G>A,p.G730R
NFE2L1(NM_003204,nuclear factor, erythroid 2-like 1,772aa) g.17:46136735G>A,c.2051G>A,p.R684H
NFE2L1(NM_003204,nuclear factor, erythroid 2-like 1,772aa) g.17:46136341C>T,c.1657C>T,p.R553C
NFE2L1(NM_003204,nuclear factor, erythroid 2-like 1,772aa) g.17:46128778G>T,c.298G>T,p.V100L
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24845863C>T,c.2609C>T,p.P870L
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24845841T>C,c.2587T>C,p.S863P
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24845686T>C,c.2432T>C,p.L811P
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24845230G>A,c.2168G>A,p.R723Q
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24845185C>T,c.2123C>T,p.T708M
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24843603G>A,c.1993G>A,p.E665K
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24842563A>C,c.1735A>C,p.N579H
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24841801G>A,c.1540G>A,p.V514I
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24841717G>A,c.1456G>A,p.V486I
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24839639G>C,c.1224G>C,p.E408D
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24839569C>T,c.1154C>T,p.P385L
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24839083G>C,c.668G>C,p.G223A
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24838993C>T,c.578C>T,p.A193V
NFATC4(NM_001136022,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4,964aa) g.14:24838891G>A,c.476G>A,p.G159E
NFATC3(NM_004555,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3,1068aa) g.16:68208406del,c.1904del,p.635fs
NFATC3(NM_004555,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3,1068aa) g.16:68156829C>T,c.1043C>T,p.A348V
NFATC3(NM_004555,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3,1068aa) g.16:68156723G>C,c.937G>C,p.A313P
NFATC3(NM_004555,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3,1068aa) g.16:68156675C>T,c.889C>T,p.P297S
NFATC3(NM_004555,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3,1068aa) g.16:68156198C>T,c.412C>T,p.R138W
NFATC3(NM_004555,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3,1068aa) g.16:68156067A>C,c.281A>C,p.E94A
NFATC2(NM_012340,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2,921aa) g.20:50140629C>G,c.151G>C,p.V51L
NFATC2(NM_012340,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2,921aa) g.20:50092193T>C,c.1337A>G,p.H446R
NFATC2(NM_012340,nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2,921aa) g.20:50092077T>A,c.1453A>T,p.T485S
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