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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
21
NG_008803.1:g.26363T>C, NG_008803.1:g.26363T>A, 56876573, NC_000006.11:g.7563232=, NG_008803.1:g.26363T>G, NG_008803.1:g.26363=, NC_000006.12:g.7562999T>C, NC_000006.12:g.7562999T>A, NC_000006.11:g.7563232T>A, rs2076295, 2076295, NC_000006.11:g.7563232T>C, NC_000006.12:g.7562999=, NC_000006.12:g.7562999T>G, 17336960, NC_000006.11:g.7563232T>G
22
XM_006711243.2:c.133-126A>G, 386556581, XM_005245046.1:c.133-1260A>G, rs17838245, XM_005245046.2:c.133-1260A>G, XM_005245048.2:c.133-126A>G, 57231564, NC_000001.11:g.171322878=, XM_011509347.1:c.133-126A>G, NC_000001.10:g.171292017=, NC_000001.10:g.171292017A>G, XM_011509348.1:c.-108-1260A>G, NC_000001.11:g.171322878A>G, XM_011509349.1:c.133-126A>G, rs2076322, 17838245, XM_005245045.1:c.-18-126A>G, XM_005245045.2:c.-18-126A>G, XM_005245048.1:c.133-126A>G, rs386556581, 2076322, XM_005245047.1:c.133-126A>G, NM_002022.2:c.133-126A>G, rs57231564
23
NC_000022.11:g.38067645T>G, NM_001039584.1:c.283-59T>G, NM_001039583.1:c.283-59T>G, XM_011530517.1:c.283-59T>G, NC_000022.11:g.38067645T>C, NC_000022.10:g.38463652T>G, NC_000022.11:g.38067645=, NC_000022.10:g.38463652T>C, NM_012407.3:c.283-59T>G, NC_000022.10:g.38463652T>A, XM_006724379.1:c.-35-1388T>G, XM_006724380.1:c.-35-1388T>G, NC_000022.10:g.38463652=, rs2076369, 2076369, XR_937962.1:n.744-59T>G, NC_000022.11:g.38067645T>A
24
NC_000006.11:g.160872786C>G, XM_005267106.1:c.*698C>G, rs2076828, 2076828, XM_011536075.1:c.*698C>G, 17832122, NC_000006.11:g.160872786=, XM_005267106.3:c.*698C>G, NC_000006.12:g.160451754=, 3734179, rs3734179, NC_000006.12:g.160451754C>G, XM_011536077.1:c.*698C>G, NM_021977.3:c.*698C>G, rs17832122, XM_011536076.1:c.*698C>G
25
NC_000006.11:g.152129077T>C, XP_005266913.1:p.Ser10=, NP_001116214.1:p.Ser10=, XP_011533847.1:p.Ser10=, NC_000006.11:g.152129077T>A, XP_006715437.1:p.Ser10=, NC_000006.11:g.152129077=, NC_000006.12:g.151807942T>C, NP_001278159.1:p.Ser10=, NC_000006.12:g.151807942T>A, NP_000116.2:p.Ser10=, XM_011535546.1:c.30T>C, 17847075, 58961143, rs17847075, NG_008493.2:g.156252=, NM_001291230.1:c.30T>C, NP_001278170.1:p.Ser10=, XM_011535545.1:c.30T>C, XM_005266856.1:c.30T>C, NM_001122741.1:c.30T>C, XP_011533848.1:p.Ser10=, 2077647, 386556657, rs2077647, XM_011535543.1:c.30T>C, rs58961143, NP_001116212.1:p.Ser10=, XM_011535548.1:c.-458T>C, XP_011533845.1:p.Ser10=, XP_011533849.1:p.Ser10=, NM_001291241.1:c.30T>C, rs386556657, NM_000125.3:c.30T>C, NG_008493.1:g.122447T>C, XM_006715375.2:c.-1397T>C, NP_001116213.1:p.Ser10=, XM_005266857.1:c.30T>C, XP_011533846.1:p.Ser10=, NM_001122742.1:c.30T>C, XP_005266914.1:p.Ser10=, XM_011535547.1:c.30T>C, XM_011535544.1:c.30T>C, XM_006715374.2:c.30T>C, NG_008493.2:g.156252T>A, NG_008493.2:g.156252T>C, NM_001122740.1:c.30T>C, NC_000006.12:g.151807942=
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NC_000015.10:g.58186751T>C, 386556660, 57816743, NG_011975.1:g.53543T>C, NC_000015.10:g.58186751=, rs386556660, 2077737, NG_011975.2:g.53543T>A, rs2077737, NC_000015.9:g.58478950T>C, NC_000015.9:g.58478950=, rs57816743, NC_000015.10:g.58186751T>A, NG_011975.2:g.53543T>C, NC_000015.9:g.58478950T>A, NG_011975.2:g.53543=
27
rs2078267, 386556693, 17373020, 2078267, NC_000011.9:g.64334114C>A, NC_000011.9:g.64334114C>T, 60912100, NC_000011.9:g.64334114=, NC_000011.10:g.64566642C>T, NC_000011.10:g.64566642=, NC_000011.10:g.64566642C>A
29
57443434, NC_000012.12:g.121162377C>T, 208293, NC_000012.11:g.121600180C>T, NC_000012.11:g.121600180=, NG_011471.2:g.34503C>G, NC_000012.12:g.121162377C>A, 486479, NC_000012.12:g.121162377=, NG_011471.2:g.34503=, NG_011471.2:g.34503C>A, rs208293, NC_000012.12:g.121162377C>G, NC_000012.11:g.121600180C>A, NC_000012.11:g.121600180C>G, NG_011471.2:g.34503C>T
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NM_004797.3:c.*1671T>C, NC_000003.11:g.186574164T>A, NG_021140.1:g.18702T>C, NC_000003.12:g.186856375=, NC_000003.12:g.186856375T>A, NC_000003.11:g.186574164T>C, NM_001177800.1:c.*1671T>C, NG_021140.1:g.18702T>G, rs17503536, XM_011513324.1:c.*1671T>C, rs17846875, 60359478, rs60359478, NG_021140.1:g.18702=, rs2082940, 2082940, 17846875, NR_046662.1:n.-252A>G, NC_000003.12:g.186856375T>C, 17503536, NC_000003.11:g.186574164T>G, NC_000003.11:g.186574164=, NG_021140.1:g.18702T>A, NC_000003.12:g.186856375T>G
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NC_000001.10:g.222831372A>G, XM_006711304.2:c.4431-692A>G, rs2088514, XM_005273121.1:c.4608-692A>G, NC_000001.11:g.222658030=, NC_000001.10:g.222831372=, rs9442456, 9442456, XM_011509513.1:c.*54A>G, XM_005273122.1:c.1242-692A>G, rs17163381, 2088514, NM_001300867.1:c.1242-692A>G, XM_005273121.3:c.4608-692A>G, NM_198551.3:c.4608-692A>G, 17163381, NC_000001.11:g.222658030A>G
32
NC_000003.11:g.170971291C>T, NC_000003.12:g.171253502=, 56718918, rs2088885, NG_054934.1:g.211907G>A, 2088885, NC_000003.12:g.171253502C>T, NG_054934.1:g.211907=, NG_054934.1:g.211907G>T, NC_000003.12:g.171253502C>A, NC_000003.11:g.170971291C>A, NC_000003.11:g.170971291=
33
NC_000013.10:g.103496759=, NG_007146.1:g.3586C>G, NC_000013.11:g.102844409C>G, NC_000013.11:g.102844409C>T, rs2094258, 2094258, NC_000013.10:g.103496759C>T, 60252193, NC_000013.11:g.102844409=, NC_000013.10:g.103496759C>G, NG_007146.1:g.3586=, NG_007146.1:g.3586C>T
34
57848964, 209474, 116280628, 17584046, 502738, 117030520, NC_000006.12:g.32956807=, NG_012006.1:g.1316=, NC_000006.11:g.32924584A>G, rs209474, 181613842, NG_012006.1:g.1316T>C, NC_000006.12:g.32956807A>G, NC_000006.11:g.32924584=
35
rs209709, 61653215, NC_000001.10:g.22877813G>T, NC_000001.11:g.22551320G>A, NC_000001.11:g.22551320=, NC_000001.11:g.22551320G>C, 613038, NC_000001.10:g.22877813G>A, NC_000001.10:g.22877813G>C, 209709, rs61653215, NC_000001.10:g.22877813=, NC_000001.11:g.22551320G>T, rs613038
36
NM_001308243.1:c.64+5006A>G, NC_000010.10:g.6099045T>C, NC_000010.11:g.6057082T>C, NM_000417.2:c.64+5006A>G, XM_005252446.1:c.64+5006A>G, rs57657975, 56454393, NC_000010.11:g.6057082=, NG_007403.1:g.10228A>G, NG_007403.1:g.10228=, NM_001308242.1:c.64+5006A>G, rs56454393, 2104286, rs2104286, 57657975, XM_005252447.1:c.64+5006A>G, NC_000010.10:g.6099045=
37
NG_011474.1:g.32880=, NC_000001.11:g.158658837=, NC_000001.10:g.158628627=, XM_011509918.1:c.2588-1143T>C, NC_000001.10:g.158628627A>G, NM_003126.2:c.2588-1143T>C, XM_011509916.1:c.2588-1143T>C, XM_011509919.1:c.2588-1143T>C, XR_921911.1:n.2701-1143T>C, NC_000001.11:g.158658837A>G, 4576658, rs4576658, NG_011474.1:g.32880T>C, rs3945341, 3944272, rs3944272, XM_011509917.1:c.2588-1143T>C, rs2106089, XR_921912.1:n.2706-1143T>C, 2106089, 3945341
38
NC_000023.11:g.15599938=, XM_011545551.1:c.186+788T>C, NC_000023.11:g.15599938A>C, NC_000023.11:g.15599938A>G, NC_000023.10:g.15618061A>G, rs2106809, 59690101, XM_011545550.1:c.186+788T>C, NC_000023.10:g.15618061A>C, NG_012575.1:g.7132=, 2106809, XM_011545552.1:c.186+788T>C, NC_000023.10:g.15618061=, XM_005274571.1:c.186+788T>C, XM_011545549.1:c.186+788T>C, NC_000023.11:g.15599938A>T, NM_021804.2:c.186+788T>C, NC_000023.10:g.15618061A>T, rs59690101, NG_012575.1:g.7132T>G, NG_012575.1:g.7132T>A, NG_012575.1:g.7132T>C
39
NC_000011.10:g.1999845C>T, 2107425, 57759891, rs2107425, NG_016165.1:g.2991G>A, XM_011520274.1:c.492-11696C>T, NC_000011.10:g.1999845=, XM_011520273.1:c.498-11696C>T, NG_041945.1:g.1201=, XM_011520275.1:c.498-11696C>T, NC_000011.9:g.2021075=, NR_131223.1:n.-1970G>A, NG_041945.1:g.1201C>T, NR_131224.1:n.249+1373G>A, NC_000011.9:g.2021075C>T, NG_016165.1:g.2991=, NR_002196.2:n.-1970G>A, rs57759891
40
NC_000016.10:g.55810697G>T, NM_001266.4:c.1165-33C>A, NW_003315945.1:g.34574G>T, XM_005276867.1:c.1168-33C>A, NG_012057.1:g.27467=, NC_000016.10:g.55810697=, 2244613, NG_012057.1:g.27467C>T, rs2244613, NC_000016.9:g.55844609=, NG_012057.1:g.27467C>A, NC_000016.9:g.55844609G>C, XM_005255774.1:c.1168-33C>A, rs72486000, NC_000016.9:g.55844609G>A, NC_000016.10:g.55810697G>C, rs61164855, NG_012057.1:g.27467C>G, NC_000016.10:g.55810697G>A, 61164855, 72486000, NC_000016.9:g.55844609G>T, NM_001025194.1:c.1168-33C>A, NM_001025195.1:c.1171-33C>A