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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
121
NC_000022.10:g.19920359C>A, NC_000022.10:g.19920359C>G, rs13054936, NG_011835.1:g.14001G>T, NC_000022.11:g.19932836C>T, NM_006440.4:c.104-1738G>C, 9606186, XM_005261217.1:c.104-1738G>C, rs9606186, XM_005261215.1:c.-467G>C, NC_000022.10:g.19920359C>T, NG_011835.1:g.14001G>A, NC_000022.11:g.19932836C>G, NG_011835.1:g.14001G>C, XR_938006.1:n.-763C>G, NC_000022.10:g.19920359=, XM_005261218.1:c.7+598G>C, NM_001282512.1:c.104-1738G>C, XM_005261214.1:c.104-1741G>C, rs16982777, NC_000022.11:g.19932836C>A, NC_000022.11:g.19932836=, 13054936, XM_005261216.1:c.104-1738G>C, NG_011835.1:g.14001=, NM_006440.3:c.104-1738G>C, 16982777
122
NM_001024843.1:c.46G>A, XP_005261450.1:p.Val16Met, NC_000022.10:g.40552119G>T, rs52808489, XP_005261451.1:p.Val16Met, XM_005261393.1:c.46G>A, rs61442552, NC_000022.11:g.40156115=, NC_000022.10:g.40552119G>A, XM_005261394.1:c.46G>A, 52808489, NC_000022.11:g.40156115G>A, NC_000022.10:g.40552119=, NC_000022.11:g.40156115G>T, 61442552, NP_001020014.1:p.Val16Met, NP_001020014.1:p.Val16Leu, NP_001020014.1:p.Val16=, rs9611280, 9611280
125
NM_001135774.1:c.709-91789T>G, XM_011530410.1:c.358-91789T>G, NM_133633.2:c.712-91789T>G, NC_000022.10:g.33084511A>C, 60243057, NG_029545.1:g.374867=, XM_011530406.1:c.712-91789T>G, XM_011530413.1:c.712-26901T>G, 200483076, NC_000022.11:g.32688525=, XM_011530405.1:c.712-91789T>G, rs60243057, XM_011530409.1:c.712-91789T>G, NM_003490.3:c.712-91789T>G, NC_000022.11:g.32688525A>C, XM_011530408.1:c.712-91789T>G, NG_029545.1:g.374867T>G, XM_011530414.1:c.712-26901T>G, rs200483076, XM_011530411.1:c.712-91789T>G, XR_937927.1:n.1196-91789T>G, rs9621532, XM_011530407.1:c.712-91789T>G, XM_011530412.1:c.-55+79121T>G, 9621532, NC_000022.10:g.33084511=
126
rs17309916, rs4537719, NC_000011.9:g.27734420=, rs962369, NC_000011.10:g.27712873T>C, rs386623852, NM_170731.4:c.3+8539A>G, 4537719, NM_170732.4:c.-22+7473A>G, NM_001143806.1:c.-22+7556A>G, rs74233746, NG_011794.1:g.14186A>G, NM_001143805.1:c.-22+7771A>G, 962369, NC_000011.10:g.27712873=, NG_011794.1:g.14186=, NM_001143807.1:c.-22+6638A>G, 74233746, 386623852, NC_000011.9:g.27734420T>C, 17309916
127
XM_006724269.2:c.-123-10469T>C, NG_012204.1:g.20685=, NM_005036.4:c.-126-10467T>C, 11090773, XM_011530239.1:c.-223-10469T>C, NC_000022.10:g.46562183=, NM_001001928.2:c.-43+14310T>C, rs35718056, NG_012204.2:g.20751T>C, XM_011530244.1:c.-632-10469T>C, XM_005261655.1:c.-126-10467T>C, rs52826906, rs9626730, 9626730, NC_000022.11:g.46166284T>C, XM_011530240.1:c.-226-10469T>C, XM_005261655.2:c.-126-10469T>C, XM_005261653.1:c.-43+14310T>C, XM_011530241.1:c.-140+14314T>C, 52826906, XM_005261654.1:c.-40+14310T>C, XR_938315.1:n.249-4962A>G, XM_006724270.2:c.-40+14314T>C, XM_011530245.1:c.-449+14314T>C, NC_000022.11:g.46166284=, NC_000022.10:g.46562183T>C, rs11090773, NG_012204.1:g.20685T>C, XR_937869.1:n.190-10469T>C, 35718056, XR_244379.1:n.181+14310T>C, XR_937870.1:n.189-10469T>C, NG_012204.2:g.20751=
130
XM_005247170.1:c.526+3375C>T, NM_000796.5:c.526+3375C>T, NC_000003.12:g.114144040G>C, XM_011512511.1:c.526+3375C>T, NC_000003.12:g.114144040G>A, rs963468, NC_000003.11:g.113862887G>C, NM_033663.5:c.526+3375C>T, NC_000003.11:g.113862887G>A, NG_008842.2:g.60368C>G, NG_008842.2:g.60368C>T, XM_011512510.1:c.526+3375C>T, 963468, 57220853, NC_000003.11:g.113862887=, XM_005247171.1:c.526+3375C>T, rs57220853, 3773680, rs3773680, NM_001290809.1:c.526+3375C>T, NM_001282563.2:c.526+3375C>T, XM_011512512.1:c.526+3375C>T, NC_000003.12:g.114144040=, NG_008842.2:g.60368=
133
12800211, rs12800211, 964184, NC_000011.9:g.116648917=, NM_003904.4:c.*724C>G, NC_000011.9:g.116648917G>C, NM_001317086.1:c.*724C>G, rs17120026, NC_000011.10:g.116778201G>C, NC_000011.10:g.116778201=, rs964184, 17120026
134
NM_001278268.1:c.1526-785C>G, NG_008098.1:g.63652C>T, NM_003839.3:c.1568-785C>G, NC_000018.9:g.60051199=, NC_000018.9:g.60051199C>T, XM_011526245.1:c.1460-785C>G, NC_000018.9:g.60051199C>G, XM_011526244.1:c.1583-785C>G, NC_000018.10:g.62383966C>A, NM_001270951.1:c.617-785C>G, NM_001270950.1:c.731-785C>G, NC_000018.9:g.60051199C>A, 9646629, rs9646629, NC_000018.10:g.62383966C>G, NM_001270949.1:c.784-785C>G, NC_000018.10:g.62383966=, NC_000018.10:g.62383966C>T, NG_008098.1:g.63652C>A, NG_008098.1:g.63652C>G, XR_935263.1:n.1746-785C>G, 61518736, NG_008098.1:g.63652=, rs61518736, NM_003839.2:c.1568-785C>G
136
NC_000008.10:g.39765848C>T, 9657182, NC_000008.10:g.39765848=, rs9657182, NC_000008.11:g.39908329C>T, 10216594, NC_000008.11:g.39908329=, NC_000008.11:g.39908329C>G, rs10216594, 61067666, NC_000008.10:g.39765848C>G, rs61067666
137
NP_055444.2:p.Leu370=, XP_011544865.1:p.Leu371Phe, 57380468, NP_001295082.1:p.Leu395Phe, NC_000008.11:g.1885635G>T, XM_011534770.1:c.1113G>C, XM_011546566.1:c.1068G>C, XM_005266040.3:c.1185G>C, XM_005266041.1:c.1113G>C, XP_011533070.1:p.Leu371Phe, XP_011544869.1:p.Leu371Phe, XM_011534768.1:c.1113G>C, XP_005266099.1:p.Leu332Phe, XP_006725174.1:p.Leu332Phe, NM_001308153.1:c.1185G>C, NT_187576.1:g.69011G>C, NP_055444.2:p.Leu370Phe, NG_008480.1:g.66653G>C, NG_008480.1:g.66653=, rs57380468, NC_000008.10:g.1833801=, XM_006725106.2:c.1185G>C, XM_011534767.1:c.993G>C, XP_006725169.1:p.Leu395Phe, rs52817136, NM_014629.3:c.1110G>C, XP_011544868.1:p.Leu356Phe, 9657362, XM_011534766.1:c.1113G>C, XP_011533071.1:p.Leu356Phe, XM_011546564.1:c.993G>C, XP_011544867.1:p.Leu371Phe, XM_011546567.1:c.1113G>C, XP_011533072.1:p.Leu371Phe, XM_011546565.1:c.1113G>C, XP_011533068.1:p.Leu371Phe, NM_014629.2:c.1110G>C, XP_006725170.1:p.Leu371Phe, NP_001295081.1:p.Leu332Phe, XM_011534769.1:c.1068G>C, NG_008480.1:g.66653G>T, rs9657362, 52817136, XP_005266096.1:p.Leu394Phe, XP_005266097.1:p.Leu395Phe, XM_005266040.1:c.1185G>C, XM_005266039.1:c.1182G>C, XM_006725107.2:c.1113G>C, NC_000008.10:g.1833801G>C, XP_011533069.1:p.Leu331Phe, XM_005266041.2:c.1113G>C, XP_011544866.1:p.Leu331Phe, XM_005266042.1:c.996G>C, XM_006725111.1:c.996G>C, NM_001308152.1:c.996G>C, XM_011546563.1:c.1113G>C, XP_005266098.1:p.Leu371Phe, NC_000008.11:g.1885635=, NC_000008.11:g.1885635G>C, NC_000008.10:g.1833801G>T
139
NC_000005.10:g.151675158T>C, NC_000005.9:g.151054719T>A, 60545196, NC_000005.10:g.151675158T>A, NC_000005.9:g.151054719T>C, rs967527, 3776961, NG_042174.1:g.16897=, NC_000005.9:g.151054719=, 56441809, 17741606, NG_042174.1:g.16897A>G, 967527, NC_000005.10:g.151675158=, 59532221, NG_042174.1:g.16897A>T
140
NC_000002.12:g.226795828=, XP_005246591.1:p.Gly971Arg, NC_000002.12:g.226795828C>T, XM_005246534.1:c.2911G>A, NG_015830.1:g.7963=, NP_005535.1:p.Gly971Arg, NC_000002.11:g.227660544=, NM_005544.2:c.2911G>A, NC_000002.11:g.227660544C>G, rs1801278, 1801278, NP_005535.1:p.Gly971=, NC_000002.12:g.226795828C>G, NC_000002.11:g.227660544C>T, NG_015830.1:g.7963G>A, rs3769648, NG_015830.1:g.7963G>C, 3769648