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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
1
NP_009113.3:p.Ala133Ser, NP_009113.3:p.Ala133=, 2073498, rs2073498, NG_023270.1:g.13822=, NG_023270.1:g.13822G>T, NC_000003.12:g.50332115C>A, 52807901, NC_000003.12:g.50332115=, NC_000003.11:g.50369546=, NC_000003.11:g.50369546C>A
2
XM_005250756.2:c.-625G>C, rs60810341, NC_000008.11:g.118951813G>C, XM_005250756.1:c.-625G>C, 17751701, NP_002537.3:p.Asn3=, NC_000008.11:g.118951813=, 60810341, rs17751701, NM_002546.3:c.9C>G, NC_000008.10:g.119964052G>C, NP_002537.3:p.Asn3Lys, NG_012202.1:g.5332C>G, 2073618, NG_012202.1:g.5332=, rs2073618, NC_000008.10:g.119964052=
3
XP_005272922.1:p.Pro241Leu, XP_011545579.1:p.Pro241Leu, rs17457224, XP_005275344.1:p.Pro241Leu, XM_005275449.2:c.722C>T, XM_005275288.1:c.722C>T, XP_005275212.1:p.Pro241Leu, 117671247, XM_005275157.1:c.722C>T, 58398878, rs17857685, NT_167247.2:g.2506044C>T, XP_005272923.1:p.Pro241Leu, XM_005275450.1:c.722C>T, XP_011513131.1:p.Pro241Leu, XM_005275020.1:c.722C>T, rs117671247, 17853160, XM_005249336.1:c.722C>T, XM_005272866.1:c.722C>T, 17857685, NC_000006.11:g.31129707=, XM_011548461.1:c.722C>T, XM_005249334.2:c.722C>T, XM_005275018.1:c.722C>T, NP_009040.2:p.Pro241=, XM_011547680.1:c.722C>T, 2073724, NC_000006.12:g.31161930C>T, NT_167249.2:g.2465345C>T, NP_001305837.1:p.Pro241Leu, XP_011546380.1:p.Pro241Leu, XM_005272867.1:c.722C>T, XP_005275077.1:p.Pro241Leu, XP_011546202.1:p.Pro241Leu, NG_054878.1:g.1309G>A, XP_005275508.1:p.Pro241Leu, XM_011547277.1:c.722C>T, XP_011545982.1:p.Pro241Leu, XP_005275645.1:p.Pro241Leu, XP_011546763.1:p.Pro241Leu, XP_005272924.1:p.Pro241Leu, NP_009040.2:p.Pro241Leu, rs115538919, XM_005275289.1:c.722C>T, XM_011547278.1:c.722C>T, XM_005272868.1:c.722C>T, XM_005275589.1:c.722C>T, XP_005275345.1:p.Pro241Leu, XP_005249393.1:p.Pro241Leu, NM_001077511.1:c.722C>T, NC_000006.12:g.31161930=, XM_005249334.1:c.722C>T, NM_001318908.1:c.722C>T, XM_005275588.1:c.722C>T, XP_011545580.1:p.Pro241Leu, NT_167246.2:g.2472430C>T, XP_005249391.1:p.Pro241Leu, XP_005275214.1:p.Pro241Leu, XP_005275506.1:p.Pro241Leu, XM_005275019.1:c.722C>T, XP_005272925.1:p.Pro241Leu, XM_005272865.1:c.722C>T, XM_005275451.1:c.722C>T, XP_005275076.1:p.Pro241Leu, XM_005275449.1:c.722C>T, NM_007109.2:c.722C>T, XM_005275287.1:c.722C>T, XP_005249392.1:p.Pro241Leu, 17457224, XP_005275075.1:p.Pro241Leu, NT_113891.3:g.2644353C>T, rs58398878, NC_000006.11:g.31129707C>T, XM_011548078.1:c.722C>T, XP_005275646.1:p.Pro241Leu, XP_005275346.1:p.Pro241Leu, NT_167245.2:g.2421245C>T, rs2073724, XP_005275213.1:p.Pro241Leu, XM_005275156.1:c.722C>T, NP_001070979.1:p.Pro241Leu, rs17853160, 115538919, XP_005275507.1:p.Pro241Leu, NT_167248.2:g.2419962C>T, XM_011547900.1:c.722C>T, XM_005249335.1:c.722C>T, NG_054878.1:g.1309=, XM_005275155.1:c.722C>T, XM_011514829.1:c.722C>T
4
XM_005255327.1:c.2335-30C>G, NG_028268.2:g.145799=, XM_005255326.1:c.2461-30C>G, 57718684, 2074087, NC_000016.9:g.16184232=, NM_004996.3:c.2461-30C>G, NM_004996.3:c.2461-30G>C, NT_187607.1:g.1748233G=, XM_011522498.1:c.2368-30C>G, XM_011522498.1:c.2368-30G>C, NC_000016.9:g.16184232C>A, NC_000016.10:g.16090375=, XM_005255329.1:c.2284-30C>G, rs57718684, NC_000016.9:g.16184232C>G, NG_028268.1:g.145799C>G, NC_000016.10:g.16090375C>G, NG_028268.1:g.145799=, NC_000016.10:g.16090375C=, NG_028268.1:g.145799C>A, NT_187607.1:g.1748233G>C, NC_000016.10:g.16090375C>A, XM_005255328.1:c.2323-30C>G, rs2074087, NG_028268.1:g.145799C=, XM_011522497.1:c.2437-30C>G, XM_011522497.1:c.2437-30G>C, NG_028268.2:g.145799C>A, NG_028268.2:g.145799C>G
5
2074192, NC_000023.11:g.15564667C>T, 58632466, NG_012575.2:g.42492G>A, NG_012575.1:g.42403=, NG_012575.2:g.42492=, NC_000023.11:g.15564667=, NC_000023.10:g.15582790=, rs2074192, NG_012575.1:g.42403G>A, NC_000023.10:g.15582790C>T
8
rs58663575, NG_011441.1:g.80977G>A, NG_011441.2:g.80977=, XM_005262797.2:c.2608+151G>A, NC_000004.11:g.110910016G>A, rs2074390, XM_006714124.2:c.2734+151G>A, 58663575, XR_427532.2:n.3187+151G>A, XM_011531708.1:c.2734+151G>A, rs17253568, XM_005262796.2:c.2734+151G>A, XM_005262800.2:c.2492-4387G>A, XM_005262796.1:c.2734+151G>A, NG_011441.1:g.80977=, XM_005262799.1:c.2734+151G>A, NC_000004.11:g.110910016=, NG_011441.2:g.80977G>A, XM_005262797.1:c.2608+151G>A, XM_005262801.1:c.2491+5319G>A, XR_938699.1:n.3187+151G>A, NM_001178131.2:c.2608+151G>A, 17253568, XM_005262798.2:c.2492-4387G>A, XM_005262800.1:c.2492-4387G>A, NC_000004.12:g.109988860G>A, 2074390, NC_000004.12:g.109988860=, XM_005262801.2:c.2491+5319G>A, NM_001178130.2:c.2734+151G>A, NM_001963.5:c.2734+151G>A, XM_005262798.1:c.2492-4387G>A, XM_011531707.1:c.2623+151G>A
9
rs58047627, NM_001174080.1:c.4093-207T>G, XM_005260066.1:c.4093-207T>G, NC_000019.10:g.13261817=, NC_000019.9:g.13372631A>C, NG_011569.1:g.249644=, NM_023035.2:c.4102-207T>G, 2074880, NM_001127222.1:c.4090-207T>G, XM_005260065.1:c.4099-207T>G, XM_005260067.1:c.4093-207T>G, NG_011569.1:g.249644T>G, 58047627, XM_005260068.1:c.4090-207T>G, rs2074880, NM_001127221.1:c.4093-207T>G, NC_000019.9:g.13372631=, NC_000019.10:g.13261817A>C, NM_000068.3:c.4102-207T>G
10
NG_012161.1:g.51921G>C, NG_012161.2:g.51921G>T, NC_000019.10:g.3653527=, NC_000019.10:g.3653527C>A, NG_012161.1:g.51921G>A, NP_036530.1:p.Ser228=, NC_000019.9:g.3653525C>T, NG_012161.2:g.51921=, NC_000019.10:g.3653527C>G, NC_000019.10:g.3653527C>T, NG_012161.1:g.51921G>T, NG_012161.2:g.51921G>C, NC_000019.9:g.3653525C>G, NG_012161.2:g.51921G>A, NG_012161.1:g.51921=, NC_000019.9:g.3653525=, 57244700, NC_000019.9:g.3653525C>A, rs2074957, 2074957
11
NC_000002.12:g.169154475T>A, rs52808684, NC_000002.11:g.170010985T>C, XP_011509485.1:p.Lys4051Glu, rs386556527, NC_000002.11:g.170010985T>A, NP_004516.2:p.Lys4094=, XM_005246551.1:c.9991A>G, NP_004516.2:p.Lys4094Ter, NG_012634.1:g.213138A>T, NG_012634.1:g.213138=, 17848193, XP_005246608.1:p.Lys3331Glu, rs59573352, NP_004516.2:p.Lys4094Glu, NG_012634.1:g.213138A>G, 52808684, NC_000002.11:g.170010985=, XM_011511184.1:c.9991A>G, rs2075252, 59573352, 2075252, XP_011509486.1:p.Lys3331Glu, NM_004525.2:c.12280A>G, NC_000002.12:g.169154475T>C, 386556527, XM_011511183.1:c.12151A>G, rs17848193, NC_000002.12:g.169154475=
12
2097603, NG_011835.1:g.6268C>A, rs2097603, 2234763, rs2234763, XM_011529890.1:c.-1714G>A, NG_011526.1:g.3830G>T, NC_000022.11:g.19940569G>T, NG_011835.1:g.6268=, XM_005261216.1:c.103+1132C>T, NC_000022.10:g.19928092G>A, XM_011529891.1:c.-1992G>A, rs4646309, NC_000022.10:g.19928092G>C, NM_006440.4:c.103+1132C>T, NC_000022.11:g.19940569G>A, NC_000022.10:g.19928092=, NC_000022.11:g.19940569G>C, rs2075507, 2075507, NC_000022.11:g.19940569=, 3937420, NM_000754.3:c.-1420G>A, XM_005261214.1:c.103+1132C>T, XM_011529887.1:c.-1420G>A, NC_000022.10:g.19928092G>T, XM_005261217.1:c.103+1132C>T, 4646309, rs3937420, NG_011526.1:g.3830G>A, NG_011526.1:g.3830G>C, NG_011526.1:g.3830=, NM_006440.3:c.103+1132C>T, NG_011835.1:g.6268C>T, NG_011835.1:g.6268C>G, NM_001282512.1:c.103+1132C>T, XM_005261229.1:c.-1714G>A
13
XR_245536.1:n.830-83G>C, NM_001285522.1:c.291-27814G>C, NM_001145285.2:c.644-83G>C, rs17174815, NC_000006.12:g.154090869G>C, XM_011535849.1:c.923-83G>C, XM_011535856.1:c.344-83G>C, XM_011535851.1:c.344-83G>C, NG_021208.2:g.85369=, NM_001145286.2:c.644-83G>C, NM_001145281.2:c.401-83G>C, NM_001285523.1:c.644-83G>C, rs56680128, NM_001285526.1:c.344-83G>C, NR_104350.1:n.425-83G>C, 56680128, XM_011535855.1:c.344-83G>C, 17210094, XM_011535861.1:c.344-83G>C, NM_001008503.2:c.644-83G>C, NM_001145280.3:c.344-83G>C, NM_001145279.3:c.923-83G>C, NM_001145282.2:c.644-83G>C, 2075572, XM_011535860.1:c.344-83G>C, XM_011535850.1:c.437-83G>C, 17174815, XR_245535.1:n.830-83G>C, NR_104351.1:n.778-83G>C, XM_011535859.1:c.344-83G>C, XM_011535854.1:c.344-83G>C, NM_000914.4:c.644-83G>C, NR_104348.1:n.778-83G>C, NG_021208.1:g.85369G>C, NM_001008504.3:c.644-83G>C, NM_001145283.2:c.644-83G>C, XM_011535862.1:c.344-83G>C, XR_245534.1:n.830-83G>C, NM_001285524.1:c.923-83G>C, NM_001285528.1:c.344-83G>C, XM_005267002.1:c.830-83G>C, XM_011535858.1:c.344-83G>C, NM_001008505.2:c.644-83G>C, XM_011535853.1:c.344-83G>C, rs17210094, NG_021208.2:g.85369G>C, XR_245537.1:n.477-83G>C, NC_000006.11:g.154412004G>C, NR_104349.1:n.778-83G>C, NC_000006.11:g.154412004=, NM_001145287.2:c.344-83G>C, NM_001145284.3:c.644-83G>C, XM_011535857.1:c.344-83G>C, rs2075572, XM_005267003.1:c.344-83G>C, NC_000006.12:g.154090869=, NM_001285527.1:c.344-83G>C, XM_011535852.1:c.344-83G>C
14
NC_000019.9:g.45395619=, rs60321974, NC_000019.9:g.45395619A>G, XM_005258411.2:c.275-31A>G, NC_000019.10:g.44892362A>G, NM_001128917.1:c.275-31A>G, XM_005258411.1:c.275-31A>G, NG_042854.1:g.6143A>G, NM_001128916.1:c.275-31A>G, NC_000019.10:g.44892362=, rs2075650, 2075650, 60321974, NM_006114.2:c.275-31A>G, NG_042854.1:g.6143=
16
36209440, NC_000005.9:g.82372665G>T, NC_000005.10:g.83076846G>A, NG_047086.1:g.4438G>T, NG_047086.1:g.4438=, NC_000005.9:g.82372665=, rs2075685, 2075685, 17284176, 61443311, NG_047086.1:g.4438G>A, NC_000005.10:g.83076846G>T, NC_000005.10:g.83076846=, NC_000005.9:g.82372665G>A
17
386556550, NC_000011.10:g.62920797C>G, NC_000011.9:g.62688269C>T, NC_000011.9:g.62688269C>G, 57766408, NC_000011.10:g.62920797C>T, NC_000011.10:g.62920797=, NC_000011.9:g.62688269=, rs2075748, 2075748, 116918731
19
57824555, NG_012345.1:g.83145=, 56576459, NC_000006.11:g.35388479A>G, NG_012345.2:g.83145A>C, NG_012345.2:g.83145A>G, NG_012345.1:g.83145A>G, rs2076169, 2076169, NC_000006.12:g.35420702A>C, NC_000006.11:g.35388479=, NC_000006.12:g.35420702=, NC_000006.11:g.35388479A>C, NC_000006.12:g.35420702A>G, NG_012345.1:g.83145A>C, NG_012345.2:g.83145=
20
NM_001017402.1:c.2777C>A, NP_001017402.1:p.Ala926Asp, NG_007116.1:g.38892C>A, NC_000001.10:g.209791929G>T, NC_000001.10:g.209791929=, NP_000219.2:p.Ala926Asp, NM_000228.2:c.2777C>A, XP_005273181.1:p.Ala926Asp, 58828090, NP_000219.2:p.Ala926=, XM_005273124.3:c.2777C>A, NC_000001.11:g.209618584=, NG_007116.1:g.38892=, NC_000001.11:g.209618584G>T, rs2076222, 2076222, NM_001127641.1:c.2777C>A, rs58828090, NP_001121113.1:p.Ala926Asp, XM_005273124.1:c.2777C>A