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注释的变体摘要6645(本栏目收费,不能显示细节,电话15274084725)
注释的变体摘要
61
NM_145117.4:c.2769-21646C>T, NC_000011.10:g.20014313C>A, NC_000011.10:g.20014313C>G, XM_011520444.1:c.2838-21646C>T, XM_011520451.1:c.2559-21646C>T, NM_182964.5:c.2769-21646C>T, NC_000011.10:g.20014313C>T, XM_006718364.2:c.2769-21646C>T, NC_000011.9:g.20035859C>T, XM_011520449.1:c.2838-21646C>T, NG_030347.1:g.668589C>G, XM_011520450.1:c.2838-21646C>T, 2254237, rs2254237, XM_011520448.1:c.2709-21646C>T, XM_011520446.1:c.2838-21646C>T, NG_030347.1:g.668589C>A, XM_011520445.1:c.2838-21646C>T, NC_000011.9:g.20035859C>A, NM_001244963.1:c.2838-21646C>T, XM_006718366.2:c.2622-21646C>T, NG_030347.1:g.668589C>T, XM_011520452.1:c.2577-21646C>T, NC_000011.10:g.20014313=, NC_000011.9:g.20035859C>G, XR_931100.1:n.491-5182G>A, NG_030347.1:g.668589=, NM_001111018.1:c.2577-21646C>T, XM_011520447.1:c.2838-21646C>T, XM_006718365.2:c.2838-21646C>T, NC_000011.9:g.20035859=
62
386562698, rs225440, rs3827226, NC_000021.8:g.43653053C>T, NM_016818.2:c.286+7029C>T, NM_207627.1:c.292+7029C>T, NM_207629.1:c.277+7029C>T, 3827226, NC_000021.9:g.42232943C>A, NC_000021.8:g.43653053=, NM_207628.1:c.220+7029C>T, 56980987, rs56980987, rs386562698, XM_005261209.1:c.319+7029C>T, 872748, NC_000021.8:g.43653053C>A, rs872748, rs474673, NM_207174.1:c.319+7029C>T, 225440, XM_011529806.1:c.319+7029C>T, XM_011529807.1:c.319+7029C>T, NC_000021.9:g.42232943C>T, NC_000021.9:g.42232943=, 474673, NM_004915.3:c.286+7029C>T
63
2254638, NC_000021.9:g.28883961A>C, NC_000021.9:g.28883961A>T, 61648899, NC_000021.9:g.28883961=, rs2254638, NC_000021.9:g.28883961A>G, 58031625, NC_000021.8:g.30256283A>G, NC_000021.8:g.30256283A>C, NC_000021.8:g.30256283=, NC_000021.8:g.30256283A>T
64
NC_000010.10:g.96708974A>G, rs61450779, XP_005269632.1:p.His251Arg, rs52824334, 52824334, NC_000010.11:g.94949217A>G, XM_005269575.1:c.752A>G, 61450779, NG_008385.2:g.16060=, NC_000010.11:g.94949217=, NM_000771.3:c.752A>G, NG_008385.1:g.15560=, NG_008385.2:g.16060A>G, NC_000010.10:g.96708974=, NP_000762.2:p.His251Arg, rs2256871, NG_008385.1:g.15560A>G, NP_000762.2:p.His251=, 2256871
65
NP_066568.3:p.Leu350=, NC_000003.11:g.121643804C>G, NP_066568.3:p.Leu350Val, NP_066568.3:p.Leu350Phe, NC_000003.11:g.121643804=, 61711445, NC_000003.12:g.121924957C>G, 52832599, NC_000003.12:g.121924957=, NC_000003.11:g.121643804C>T, NC_000003.12:g.121924957C>T, rs2257212, 2257212
66
NM_001256497.2:c.1226C>G, NG_007983.1:g.31137C=, 11536558, NP_000756.3:p.Thr409Arg, NP_001243426.2:p.Thr409Arg, NG_007983.1:g.31137C>G, NM_000765.4:c.1226C>G, NM_001256497.2:c.1226C=, XP_005250225.1:p.Arg408Thr, NG_007983.1:g.31137=, XM_005250168.1:c.1223G>C, NC_000007.14:g.99709062G>C, 57389434, NP_001243426.2:p.Thr409=, NC_000007.14:g.99709062=, XR_927402.1:n.1467-14413G>C, rs11536558, rs57389434, rs2257401, 2257401, NC_000007.13:g.99306685C>G, NM_000765.4:c.1226C=, NP_000756.3:p.Thr409=
67
rs2260863, 2260863, 57978216, NC_000001.11:g.225832073G>A, rs57978216, NG_009776.1:g.26978=, NG_009776.1:g.26978G>A, NG_009776.1:g.26978G>C, NC_000001.10:g.226019774=, NC_000001.10:g.226019774G>A, XM_005273085.1:c.364+114G>C, NC_000001.11:g.225832073G>C, NM_000120.3:c.364+114G>C, NC_000001.11:g.225832073=, NC_000001.10:g.226019774G>C, NM_001136018.3:c.364+114G>C, NM_001291163.1:c.364+114G>C
68
NG_033256.2:g.12798=, NP_037414.3:p.Ala11=, NC_000019.10:g.4910877G>C, rs2261988, 2261988, NC_000019.10:g.4910877G>A, 17885972, NC_000019.10:g.4910877=, NP_037414.3:p.Ala11Thr, NG_033256.2:g.12798G>T, NC_000019.9:g.4910889G>T, NP_037414.3:p.Ala11Ser, NC_000019.10:g.4910877G>T, NC_000019.9:g.4910889G>A, NC_000019.9:g.4910889=, NP_037414.3:p.Ala11Pro, NC_000019.9:g.4910889G>C, 59436293, NG_033256.2:g.12798G>A, NG_033256.2:g.12798G>C
69
NM_001293807.1:c.463G>A, NM_001293808.1:c.151G>A, NM_001293811.1:c.151G>A, NM_001293813.1:c.201-228G>A, rs762585649, rs2266637, XP_005261644.1:p.Val218Ile, 2266637, NM_000853.3:c.505G>A, XP_005261646.1:p.Val51Ile, XP_005261645.1:p.Val51Ile, rs56671512, XM_005261588.1:c.151G>A, NC_000022.10:g.24376845C>T, NM_001293812.1:c.151G>A, NM_001293814.1:c.113-228G>A, 56671512, NC_000022.10:g.24376845=, NP_001280737.1:p.Val51Ile, NP_001280739.1:p.Val51Ile, NP_000844.2:p.Val169=, NP_001280736.1:p.Val155Ile, NT_187633.1:g.271020C>T, XM_005261589.1:c.151G>A, NP_001280738.1:p.Val51Ile, XM_005261587.2:c.652G>A, NP_001280740.1:p.Val51Ile, NP_001280741.1:p.Val51Ile, NM_001293810.1:c.151G>A, NM_001293809.1:c.151G>A, 762585649, NP_000844.2:p.Val169Ile, XM_005261587.1:c.652G>A
70
NM_006894.5:c.923A>G, XM_005245044.1:c.734A>G, XM_005245043.1:c.863A>G, NM_001319174.1:c.734A>G, rs57860801, NC_000001.11:g.171114102A>G, rs17564742, NP_001002294.1:p.Glu308Gly, XM_011509346.1:c.863A>G, NP_001306102.1:p.Glu288Gly, NC_000001.10:g.171083242A>G, 57076237, NP_008825.4:p.Glu308Gly, XP_011507647.1:p.Glu288Gly, NM_001002294.2:c.923A>G, NP_001306103.1:p.Glu245Gly, rs57076237, 17564742, 57860801, XM_011509345.1:c.863A>G, NG_012690.1:g.28225A>G, 80356549, NC_000001.11:g.171114102=, NP_008825.4:p.Glu308=, rs2266780, NM_001319173.1:c.863A>G, XP_005245100.1:p.Glu288Gly, 2266780, XP_011507648.1:p.Glu288Gly, XP_005245101.1:p.Glu245Gly, rs80356549, NC_000001.10:g.171083242=, NG_012690.1:g.28225=
71
NM_001002294.2:c.472G>A, XP_011507648.1:p.Glu138Lys, XP_005245100.1:p.Glu138Lys, XM_005245043.1:c.412G>A, NM_001319174.1:c.283G>A, rs3738810, NG_012690.1:g.21949=, NC_000001.11:g.171107825G>A, rs60462518, 3738810, NG_012690.1:g.21949G>A, XM_005245044.1:c.283G>A, 60462518, NM_006894.5:c.472G>A, XM_011509346.1:c.412G>A, NP_001306103.1:p.Glu95Lys, rs52795018, NC_000001.11:g.171107825=, XM_011509345.1:c.412G>A, 80356548, NP_001306102.1:p.Glu138Lys, NP_008825.4:p.Glu158=, XP_011507647.1:p.Glu138Lys, rs2266782, NP_001002294.1:p.Glu158Lys, 2266782, 52795018, NP_008825.4:p.Glu158Lys, rs80356548, NC_000001.10:g.171076966=, NM_001319173.1:c.412G>A, XP_005245101.1:p.Glu95Lys, NC_000001.10:g.171076966G>A
72
NG_015894.2:g.7451=, NG_015894.1:g.7451=, NG_015894.1:g.7451C>T, rs2266788, 2266788, NC_000011.9:g.116660686=, NG_015894.2:g.7451C>G, NC_000011.10:g.116789970=, NC_000011.9:g.116660686G>C, NC_000011.9:g.116660686G>A, 60220612, NG_015894.1:g.7451C>G, NC_000011.10:g.116789970G>A, NC_000011.10:g.116789970G>C, NG_015894.2:g.7451C>T
73
NR_028484.2:n.834-2193A>G, NC_000022.11:g.24434627=, NM_001278499.1:c.332+891T>C, NR_103543.1:n.186-5956T>C, NR_103546.1:n.4511+891T>C, NM_000675.5:c.332+891T>C, NM_001278497.1:c.332+891T>C, NC_000022.10:g.24830595T>C, NR_103544.1:n.166-5956T>C, NG_052804.1:g.16031T>C, NG_052804.1:g.16031=, rs2267076, 2267076, NM_001278498.1:c.332+891T>C, NC_000022.10:g.24830595=, NM_001278500.1:c.332+891T>C, NC_000022.11:g.24434627T>C
74
NC_000007.14:g.30676471G>C, NM_001202481.1:c.187+5444C>T, XR_242065.1:n.474+5444C>T, rs57512960, NG_029169.1:g.28633=, rs2267715, NC_000007.14:g.30676471=, NC_000007.14:g.30676471G>A, 2267715, NC_000007.13:g.30716087G>A, NC_000007.13:g.30716087=, NM_001202475.1:c.310+5444C>T, XM_011515127.1:c.229+5444C>T, NC_000007.13:g.30716087G>C, NG_029169.1:g.28633C>T, NM_001883.4:c.229+5444C>T, 57512960, XM_011515129.1:c.229+5444C>T, NM_001202482.1:c.229+5444C>T, XM_011515128.1:c.229+5444C>T, NM_001202483.1:c.229+5444C>T, NG_029169.1:g.28633C>G
75
NG_008384.3:g.17827=, NC_000010.11:g.94775507=, NM_000769.1:c.449G>A, 58973490, NC_000010.11:g.94775507G>A, NP_000760.1:p.Arg150His, rs58973490, NG_008384.3:g.17827G>A, NM_000769.2:c.449G>A, NC_000010.10:g.96535264G>A, NC_000010.10:g.96535264=, NG_008384.2:g.17802G>A, NP_000760.1:p.Arg150=
76
NC_000023.10:g.45640507T>G, rs59105359, NC_000023.10:g.45640507=, rs59017433, rs5906072, 5906072, rs6609373, 6609373, NC_000023.11:g.45781104T>G, 59017433, 59105359, NC_000023.11:g.45781104=, NC_000023.10:g.45640507T>C, NW_004070879.1:g.105769T>C, NC_000023.11:g.45781104T>C
77
XP_006710460.1:p.Arg592Trp, NC_000001.10:g.97915746G>A, NG_008807.2:g.475870=, XP_005270620.1:p.Arg592Trp, rs59086055, XM_006710397.2:c.1774C>T, NC_000001.11:g.97450190=, XM_005270561.1:c.1663C>T, XM_005270562.1:c.1558C>T, NP_000101.2:p.Arg592=, XM_005270563.1:c.1774C>T, NC_000001.10:g.97915746=, NP_000101.2:p.Arg592Trp, XM_005270562.3:c.1558C>T, NC_000001.11:g.97450190G>A, XP_005270619.1:p.Arg520Trp, XP_005270618.1:p.Arg555Trp, XP_005270619.2:p.Arg520Trp, NG_008807.2:g.475870C>T, NM_000110.3:c.1774C>T, 59086055
78
NM_153764.2:c.1013T>C, NP_722449.3:p.Met355Thr, 62625013, NP_722451.1:p.Met338Thr, NP_000211.1:p.Met357=, NP_722450.1:p.Met338Thr, NM_153765.2:c.1064T>C, NG_009379.1:g.33143T>C, NM_153767.3:c.1013T>C, 59172778, NC_000011.10:g.128839231=, NP_000211.1:p.Met357Thr, NC_000011.10:g.128839231A>G, NC_000011.9:g.128709126=, NM_000220.4:c.1070T>C, NC_000011.9:g.128709126A>G, NP_722448.1:p.Met338Thr, NG_009379.1:g.33143=, NM_153766.2:c.1013T>C, rs59172778, rs62625013
79
NG_011478.1:g.830=, rs58859716, 591758, NG_011478.1:g.830C>T, NC_000011.9:g.73698060G>C, NC_000011.9:g.73698060G>A, NC_000011.10:g.73987015G>A, NG_011478.1:g.830C>G, NC_000011.10:g.73987015G>C, rs591758, 58859716, NC_000011.9:g.73698060=, NC_000011.10:g.73987015=
80
NC_000017.11:g.47283364T>C, NC_000017.10:g.45360730=, NC_000017.11:g.47283364=, NG_008332.2:g.34523=, 5918, NG_008332.2:g.34523T>C, NM_000212.2:c.176T>C, NP_000203.2:p.Leu59Pro, NP_000203.2:p.Leu59=, rs5918, NC_000017.10:g.45360730T>C