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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
141
NG_012246.1:g.13950=, NG_012246.1:g.13950G>A, 52824535, 17126583, NP_000006.2:p.Arg64=, NM_000015.2:c.191G>A, rs52824535, NC_000008.11:g.18400194=, NP_000006.2:p.Arg64Gln, rs4134723, 1801279, 4134723, rs1801279, XP_011542660.1:p.Arg64Gln, NC_000008.11:g.18400194G>A, XM_011544358.1:c.191G>A, rs17126583, NC_000008.10:g.18257704G>A, NC_000008.10:g.18257704=
142
NP_000006.2:p.Ile114Thr, NG_012246.1:g.14100T>C, XP_011542660.1:p.Ile114Thr, NC_000008.11:g.18400344=, NC_000008.11:g.18400344T>C, 56935242, XM_011544358.1:c.341T>C, NC_000008.10:g.18257854T>C, NG_012246.1:g.14100=, rs4134724, 4134724, NP_000006.2:p.Ile114=, rs56935242, NC_000008.10:g.18257854=, rs1801280, 1801280, NM_000015.2:c.341T>C
143
XM_011533841.1:c.-2-28078C>G, 36206375, NM_015869.4:c.34C>G, XM_011533843.1:c.34C>G, NM_005037.5:c.-2-28078C>G, 17241090, 57327233, rs17749580, NG_011749.1:g.68777C>G, rs36206375, rs57327233, rs17241090, NM_138711.3:c.-2-28078C>G, 1801282, XM_011533844.1:c.-2-28078C>G, NP_056953.2:p.Pro12=, NC_000003.12:g.12351626=, rs1801282, NC_000003.11:g.12393125=, NP_056953.2:p.Pro12Ala, NC_000003.11:g.12393125C>G, rs56460253, NG_011749.1:g.68777=, XM_011533840.1:c.-2-28078C>G, XP_011532144.1:p.Pro12Ala, 17749580, XP_011532145.1:p.Pro12Ala, NC_000003.12:g.12351626C>G, NM_138712.3:c.-2-28078C>G, 56460253, XM_011533842.1:c.34C>G
144
NG_028199.1:g.5257=, NG_028199.1:g.5257G>A, NP_001076428.1:p.Gly2Ser, NC_000012.11:g.125348263=, NP_005496.4:p.Gly2=, XM_005253633.1:c.4G>A, XM_005253636.1:c.4G>A, XP_005253693.1:p.Gly2Ser, 4238001, rs4238001, XP_005253690.1:p.Gly2Ser, XR_945488.1:n.-1802C>T, NM_001082959.1:c.4G>A, NM_005505.4:c.4G>A, NC_000012.12:g.124863717=, NC_000012.11:g.125348263C>T, NC_000012.12:g.124863717C>T, NP_005496.4:p.Gly2Ser
145
NC_000023.10:g.15586964C>T, NG_012575.1:g.38229=, NC_000023.10:g.15586964=, NC_000023.11:g.15568841C>G, NG_012575.1:g.38229G>C, 57013401, NG_012575.1:g.38229G>A, 4240157, NG_012575.2:g.38318G>A, rs4240157, NG_012575.2:g.38318=, NG_012575.2:g.38318G>C, NC_000023.10:g.15586964C>G, NC_000023.11:g.15568841=, NC_000023.11:g.15568841C>T
146
NC_000016.10:g.87855597G>A, NC_000016.10:g.87855597=, NC_000016.10:g.87855597G>C, NM_003486.5:c.539-3748C>T, rs57243996, XM_011523355.1:c.8-3748C>T, 4240803, NC_000016.9:g.87889203G>C, rs4240803, NC_000016.9:g.87889203G>A, NC_000016.10:g.87855597G>T, XM_011523354.1:c.538+13288C>T, NC_000016.9:g.87889203=, NC_000016.9:g.87889203G>T, 57243996, XM_006721286.2:c.20-3748C>T
147
NC_000015.10:g.26037644=, NR_040082.1:n.896-11481G>T, 61389947, 17558024, NC_000015.9:g.26282791G>A, NC_000015.10:g.26037644G>A, NC_000015.10:g.26037644G>C, NC_000015.9:g.26282791G>C, rs17558024, NC_000015.10:g.26037644G>T, NC_000015.9:g.26282791G>T, rs61389947, 4243761, rs4243761, NC_000015.9:g.26282791=
148
17879456, NC_000010.10:g.96541616=, NP_000760.1:p.Pro227=, NM_000769.2:c.681G>A, CYP2C19*2, rs116940633, NC_000010.11:g.94781859=, NG_008384.3:g.24179=, NG_008384.2:g.24154G>A, 116940633, NC_000010.10:g.96541616G>C, rs17879456, rs60361278, NC_000010.11:g.94781859G>A, NG_008384.3:g.24179G>A, 4244285, NC_000010.11:g.94781859G>C, NG_008384.3:g.24179G>C, rs4244285, NC_000010.10:g.96541616G>A, NM_000769.1:c.681G>A, 60361278
149
17881423, NC_000011.10:g.2143103G>C, NG_008849.1:g.11501C>T, NG_050578.1:g.23107C>A, NC_000011.9:g.2164333=, NC_000011.10:g.2143103G>A, NG_008849.1:g.11501=, 4244809, NC_000011.9:g.2164333G>A, NC_000011.9:g.2164333G>C, rs4244809, NC_000011.10:g.2143103G>T, NG_050578.1:g.23107C>T, NG_008849.1:g.11501C>A, NC_000011.10:g.2143103=, NC_000011.9:g.2164333G>T, NG_050578.1:g.23107=, NG_008849.1:g.11501C>G, NG_050578.1:g.23107C>G
150
rs4245150, 17529894, 4245150, NC_000011.10:g.113493925G>C, NC_000011.9:g.113364647G>T, 60579057, rs58077171, NC_000011.9:g.113364647=, 56620107, XR_948024.1:n.102-2735C>A, rs17529894, NC_000011.10:g.113493925G>T, rs60579057, 58077171, rs56620107, NC_000011.9:g.113364647G>C, NC_000011.10:g.113493925=
151
11541089, 17146030, 41369146, NC_000011.9:g.61564299=, NC_000011.9:g.61564299G>T, NC_000011.9:g.61564299G>C, rs4246215, 4246215, 58966168, NC_000011.10:g.61796827=, NC_000011.10:g.61796827G>C, NC_000011.10:g.61796827G>T
152
NT_167245.2:g.2822489C>T, NT_167247.1:g.2922239C>T, XM_011548438.1:c.*1063C>T, NM_001159740.2:c.*1063C>T, XM_011548050.1:c.*1063C>T, XM_011548436.1:c.*1063C>T, XM_011548243.1:c.*1063C>T, XM_011547885.1:c.*1063C>T, XM_011547886.1:c.*1063C>T, XM_011547883.1:c.*1063C>T, XM_011547884.1:c.*1063C>T, XM_011548440.1:c.*1063C>T, NT_167249.2:g.2874036C>T, NT_167247.2:g.2916654C>T, NT_167245.1:g.2828074C>T, NG_007462.1:g.4184C>T, NG_007462.1:g.4184=, NT_167249.1:g.2873334C>T, NC_000006.12:g.31574756C>T, NM_000594.3:c.-986C>T, NC_000006.12:g.31574756=, XM_011547887.1:c.*1063C>T, NT_167248.1:g.2836171C>T, NC_000006.11:g.31542533C>T, rs115177064, 115177064, NT_113891.3:g.3052043C>T, NG_012010.1:g.7658C>T, XM_011548439.1:c.*1063C>T, NM_000595.3:c.*1063C>T, XM_011547653.1:c.*1063C>T, XM_011548242.1:c.*1063C>T, NT_167246.1:g.2885417C>T, XM_011548051.1:c.*1063C>T, XM_011548437.1:c.*1063C>T, NT_167246.2:g.2879797C>T, XM_011547250.1:c.*1063C>T, rs4248158, NT_167248.2:g.2830575C>T, NT_113891.2:g.3052149C>T, 4248158, XM_011547654.1:c.*1063C>T, XM_011514614.1:c.*1063C>T, XM_011514615.1:c.*1063C>T, XM_011514616.1:c.*1063C>T, NC_000006.11:g.31542533=, NG_012010.1:g.7658=, XM_011514617.1:c.*1063C>T, XM_011514618.1:c.*1063C>T
153
NT_167245.2:g.2822536C>A, NT_113891.2:g.3052196C>A, XM_011548439.1:c.*1110C>A, NG_012010.1:g.7705=, XM_011548438.1:c.*1110C>A, XM_011548436.1:c.*1110C>A, NG_007462.1:g.4231C>A, NT_167246.1:g.2885464C>A, XM_011548437.1:c.*1110C>A, NT_167245.1:g.2828121C>A, XM_011547654.1:c.*1110C>A, XM_011514616.1:c.*1110C>A, XM_011514617.1:c.*1110C>A, NM_001159740.2:c.*1110C>A, XM_011514614.1:c.*1110C>A, XM_011547653.1:c.*1110C>A, XM_011514618.1:c.*1110C>A, NT_113891.3:g.3052090C>A, NT_167247.1:g.2922286C>A, XM_011547883.1:c.*1110C>A, XM_011547885.1:c.*1110C>A, XM_011514615.1:c.*1110C>A, 4248159, rs4248159, NT_167249.1:g.2873381C>A, XM_011547884.1:c.*1110C>A, XM_011547887.1:c.*1110C>A, XM_011548440.1:c.*1110C>A, XM_011547886.1:c.*1110C>A, XM_011547250.1:c.*1110C>A, NC_000006.12:g.31574803C>A, NC_000006.11:g.31542580=, NC_000006.11:g.31542580C>A, NG_007462.1:g.4231=, NT_167248.2:g.2830622C>A, NT_167247.2:g.2916701C>A, NT_167249.2:g.2874083C>A, XM_011548050.1:c.*1110C>A, XM_011548243.1:c.*1110C>A, NM_000595.3:c.*1110C>A, XM_011548242.1:c.*1110C>A, XM_011548051.1:c.*1110C>A, NG_012010.1:g.7705C>A, NT_167246.2:g.2879844C>A, NM_000594.3:c.-939C>A, NT_167248.1:g.2836218C>A, NC_000006.12:g.31574803=
154
NT_167246.1:g.2885577G>A, NG_012010.1:g.7818=, NG_007462.1:g.4344G>A, NT_113891.3:g.3052203G>A, NG_012010.1:g.7818G>A, NC_000006.11:g.31542693G>A, 140433197, NG_007462.1:g.4344=, NT_167245.2:g.2822649G>A, NC_000006.11:g.31542693=, NT_167249.1:g.2873494G>A, NT_167248.1:g.2836331G>A, NT_167245.1:g.2828234G>A, NT_113891.2:g.3052309G>A, NC_000006.12:g.31574916G>A, 4248160, rs4248160, NT_167247.2:g.2916814G>A, NT_167247.1:g.2922399G>A, NM_000594.3:c.-826G>A, NT_167248.2:g.2830735G>A, NT_167249.2:g.2874196G>A, NC_000006.12:g.31574916=, rs140433197, NT_167246.2:g.2879957G>A
155
NC_000006.12:g.31575051C>G, NT_167246.2:g.2880092C>G, NT_113891.2:g.3052444C>G, NT_167247.2:g.2916949C>G, NT_167248.2:g.2830870C>G, NG_007462.1:g.4479=, NC_000006.12:g.31575051=, NC_000006.11:g.31542828C>A, NT_167246.1:g.2885712C>G, NC_000006.12:g.31575051C>A, NT_167245.2:g.2822784C>G, NT_167249.1:g.2873629C>G, 4248163, NG_012010.1:g.7953C>A, NG_007462.1:g.4479C>G, NT_167247.1:g.2922534C>G, NC_000006.11:g.31542828C>T, rs4248163, NT_113891.3:g.3052338C>G, NC_000006.11:g.31542828C>G, NM_000594.3:c.-691C>G, NG_007462.1:g.4479C>A, NG_007462.1:g.4479C>T, NG_012010.1:g.7953C>T, NT_167248.1:g.2836466C>G, NT_167245.1:g.2828369C>G, NC_000006.12:g.31575051C>T, NG_012010.1:g.7953=, NC_000006.11:g.31542828=, NT_167249.2:g.2874331C>G, NG_012010.1:g.7953C>G
157
rs4251961, NM_001318914.1:c.-1411T>C, 4251961, rs36215122, XM_005263663.1:c.-1411T>C, XM_006712497.2:c.-1411T>C, NG_021240.1:g.3998=, NC_000002.12:g.113116890=, NC_000002.12:g.113116890T>C, NM_000577.4:c.-1129T>C, NC_000002.11:g.113874467T>C, XM_011511121.1:c.-272-3176T>C, 56470350, NG_021240.1:g.3998T>C, XM_005263662.1:c.-272-3176T>C, rs61468703, NM_173843.2:c.-1348T>C, 36215122, NM_173841.2:c.-1129T>C, rs56470350, NC_000002.11:g.113874467=, 61468703
158
NC_000021.9:g.42286991=, NC_000021.9:g.42286991C>G, NM_004915.3:c.974-898C>G, NM_207628.1:c.908-898C>G, NM_207629.1:c.965-898C>G, XM_011529807.1:c.1007-898C>G, rs425215, NC_000021.8:g.43707101=, 425215, rs17767113, XM_005261209.1:c.1007-898C>G, rs59807195, NC_000021.8:g.43707101C>G, 690665, XM_011529806.1:c.1007-898C>G, rs690665, NM_207627.1:c.980-898C>G, 17767113, 59807195, NM_016818.2:c.974-898C>G, NM_207174.1:c.1007-898C>G
159
1136007, rs10383941, rs1136007, 42524, NC_000007.14:g.94413927C>T, NP_000080.2:p.Pro549=, NC_000007.14:g.94413927C>G, rs17857444, NP_000080.2:p.Pro549Thr, NC_000007.14:g.94413927C>A, 10383941, rs42524, NP_000080.2:p.Pro549Ala, 17857444, 59646360, NG_007405.1:g.24367C>A, NC_000007.14:g.94413927=, NC_000007.13:g.94043239C>G, NC_000007.13:g.94043239C>A, NG_007405.1:g.24367C>G, rs59646360, NG_007405.1:g.24367=, NC_000007.13:g.94043239=, NM_000089.3:c.1645C>G, NC_000007.13:g.94043239C>T, NG_007405.1:g.24367C>T, NP_000080.2:p.Pro549Ser
160
NC_000022.11:g.46214170G>A, XM_005261654.1:c.209-1003G>A, XM_005261655.2:c.209-1003G>A, rs56722050, XM_011530244.1:c.-198-1003G>A, 17242080, NC_000022.10:g.46610067=, XM_011530239.1:c.209-1003G>A, XR_937869.1:n.524-1003G>A, XM_005261657.1:c.209-1003G>A, NM_005036.4:c.209-1003G>A, XM_005261656.1:c.209-1003G>A, XM_011530245.1:c.-198-1003G>A, rs17242080, XM_005261653.1:c.209-1003G>A, XM_011530241.1:c.209-1003G>A, XR_937870.1:n.523-1003G>A, rs56473198, NG_012204.2:g.68637=, NG_012204.2:g.68637G>A, NG_012204.1:g.68569=, XM_005261658.1:c.209-1003G>A, NC_000022.11:g.46214170=, XR_244379.1:n.432-1003G>A, 56473198, NG_012204.1:g.68569G>A, XM_011530242.1:c.209-1003G>A, 56722050, NM_001001928.2:c.209-1003G>A, XM_011530240.1:c.209-1003G>A, XM_006724269.2:c.209-1003G>A, XM_006724270.2:c.209-1003G>A, XM_005261655.1:c.209-1003G>A, 4253728, rs4253728, XM_011530243.1:c.209-1003G>A, NC_000022.10:g.46610067G>A, XM_005261656.2:c.209-1003G>A