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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
81
XP_005259966.1:p.Val532=, NM_001195798.1:c.1959T>C, XP_011526312.1:p.Val653=, 17851179, rs17242555, 57369606, NC_000019.9:g.11230881=, NC_000019.9:g.11230881T>C, XP_011526313.1:p.Val526=, NP_001182729.1:p.Val485=, rs57369606, NC_000019.10:g.11120205=, NG_009060.1:g.35825T>C, NP_001182727.1:p.Val653=, XM_011528011.1:c.1578T>C, NM_000527.4:c.1959T>C, NP_000518.1:p.Val653=, rs5925, XR_244074.1:n.1969T>C, 17242555, NM_001195803.1:c.1578T>C, NC_000019.10:g.11120205T>C, NM_001195800.1:c.1455T>C, rs17678307, NP_001182728.1:p.Val612=, XM_011528010.1:c.1959T>C, XM_005259909.1:c.1596T>C, NP_001182732.1:p.Val526=, rs17851179, XR_244074.2:n.1969T>C, 17678307, NG_009060.1:g.35825=, NM_001195799.1:c.1836T>C, 5925
82
NG_021439.1:g.6231G>T, rs5925720, NC_000023.11:g.23001200G>T, 5925720, NP_874358.2:p.Met381Ile, 58250497, NP_874358.2:p.Met381=, rs58250497, NG_021439.1:g.6231=, NC_000023.10:g.23019317G>T, NR_073010.1:n.343+62838C>A, NG_021439.1:g.6231G>C, NM_182699.3:c.1143G>T, NC_000023.11:g.23001200G>C, NC_000023.10:g.23019317=, NC_000023.11:g.23001200=, NC_000023.10:g.23019317G>C
83
NP_001182010.1:p.Tyr149=, rs56455686, 5934731, XP_006724511.2:p.Tyr193=, rs57784312, NC_000023.10:g.9935844=, 56455686, NC_000023.11:g.9967804C>T, NC_000023.10:g.9935844C>T, NC_000023.11:g.9967804=, rs5934731, rs6640581, 6640581, XM_006724448.2:c.579C>T, 57784312, NM_001195081.1:c.447C>T
84
NC_000022.10:g.42523610=, XM_005278354.1:c.712G>A, XM_011529968.1:c.1012G>A, XP_011528269.1:p.Val338Met, XM_011529966.1:c.1012G>A, XM_011529967.1:c.1012G>A, XP_011528274.1:p.Thr290=, NG_008376.3:g.7384G>A, NW_004504305.1:g.49935C>T, XP_011528272.1:p.Val287Met, NG_008376.3:g.7384=, NC_000022.10:g.42523610C>T, NG_008376.4:g.8203G>A, XM_005278353.1:c.868G>A, XM_011529972.1:c.870G>A, NG_008376.4:g.8203=, NC_000022.11:g.42127608=, XP_011546052.1:p.Val290Met, XM_011547750.1:c.868G>A, XP_011528270.1:p.Val338Met, NW_009646208.1:g.13174C>T, XM_011529970.1:c.859G>A, XP_011546053.1:p.Val266Met, NM_001025161.2:c.859G>A, NP_000097.3:p.Val338=, rs59421388, XM_011547751.1:c.796G>A, XM_011529971.1:c.868G>A, XM_005278354.3:c.712G>A, XP_005278410.1:p.Val290Met, NT_187682.1:g.49949C>T, XP_011528268.1:p.Val338Met, XM_011548819.1:c.*118G>A, NM_000106.5:c.1012G>A, NP_000097.3:p.Val338Met, XM_011529969.1:c.868G>A, XP_005278411.1:p.Val238Met, 59421388, XP_011528271.1:p.Val290Met, NP_001020332.2:p.Val287Met, NC_000022.11:g.42127608C>T, XM_011547541.1:c.*118G>A, XP_011528273.1:p.Val290Met, XR_952745.1:n.2027G>A
85
NP_060417.2:p.His703Asn, rs56434535, NC_000018.10:g.36251226=, NG_053177.1:g.69017C>T, rs3737372, rs57829177, 3737372, NG_053177.1:g.69017=, NC_000018.9:g.33831189C>T, 594445, 17790830, 57829177, NC_000018.10:g.36251226C>A, NC_000018.9:g.33831189=, NG_053177.1:g.69017C>A, 56434535, NC_000018.10:g.36251226C>T, NP_060417.4:p.His703=, NP_060417.4:p.His703Tyr, rs17790830, rs594445, NC_000018.9:g.33831189C>A, NM_017947.2:c.2107C>A, NP_060417.4:p.His703Asn
86
NC_000006.12:g.160134722=, 60201486, XM_005267104.1:c.263+597G>A, NM_003057.2:c.839+597G>A, XM_005267102.1:c.839+597G>A, XM_011536074.1:c.263+597G>A, rs594709, XM_005267102.3:c.839+597G>A, XM_005267104.3:c.263+597G>A, NM_153187.1:c.839+597G>A, rs60201486, NC_000006.11:g.160555754=, XM_005267103.1:c.839+597G>A, NC_000006.11:g.160555754G>A, XM_005267105.1:c.263+597G>A, NC_000006.12:g.160134722G>A, XM_006715552.1:c.839+597G>A, 594709, XM_005267105.3:c.263+597G>A
87
NC_000010.11:g.94988896=, NC_000010.10:g.96748653=, NG_008385.2:g.55739A>C, 59485260, NC_000010.10:g.96748653A>C, NP_000762.2:p.Leu447=, NG_008385.2:g.55739=, NP_000762.2:p.Leu447Phe, rs59485260, NC_000010.11:g.94988896A>C, NG_008385.1:g.55239=, NG_008385.1:g.55239A>C
88
NM_006446.4:c.1463G>C, rs59502379, NG_011745.1:g.79806G>C, NC_000012.11:g.21358933=, NC_000012.12:g.21205999G>C, NP_006437.3:p.Gly488Ala, NC_000012.11:g.21358933G>C, NG_011745.1:g.79806=, 59502379, NC_000012.12:g.21205999=, NP_006437.3:p.Gly488=
89
XP_005258625.1:p.Ser80Ala, rs59552350, NC_000019.9:g.41354621A>C, NM_000762.5:c.391T>G, NP_000753.3:p.Ser131Ala, NC_000019.10:g.40848716=, 59552350, NG_008377.1:g.6732=, NC_000019.10:g.40848716A>C, NG_008377.1:g.6732T>G, XM_005258568.1:c.238T>G, NC_000019.9:g.41354621=, NP_000753.3:p.Ser131=
91
NM_001171630.1:c.-1190A>G, NM_001025368.2:c.-650A>G, NC_000006.12:g.43770057A>T, NM_001025369.2:c.-650A>G, rs57802586, NM_001171622.1:c.-650A>G, NM_001171626.1:c.-1190A>G, NC_000006.12:g.43770057A>G, NC_000006.12:g.43770057=, NM_001025367.2:c.-650A>G, NM_001287044.1:c.-2063A>G, NM_001171627.1:c.-1190A>G, NM_001171628.1:c.-1190A>G, NM_001025366.2:c.-650A>G, NM_001171629.1:c.-1190A>G, NM_001033756.2:c.-650A>G, 13207351, NG_008732.1:g.4842A>T, NC_000006.11:g.43737794A>G, rs13207351, NM_001204384.1:c.-1190A>G, 36208387, NG_008732.1:g.4842=, NM_001171625.1:c.-1190A>G, NM_001171624.1:c.-1190A>G, NM_001317010.1:c.-1190A>G, NC_000006.11:g.43737794A>T, NM_001171623.1:c.-1190A>G, NM_001204385.1:c.-650A>G, rs36208387, NG_008732.1:g.4842A>G, XM_005249363.1:c.-2063A>G, NC_000006.11:g.43737794=, NM_001025370.2:c.-650A>G, 57802586, NM_003376.5:c.-650A>G
93
NC_000006.12:g.77461407=, NC_000006.12:g.77461407C>T, XR_942708.1:n.545-13119C>T, XR_942709.1:n.545-13119C>T, rs13212041, NM_000863.2:c.*824G>A, XR_942706.1:n.545-13119C>T, XR_942707.1:n.545-13119C>T, NC_000006.11:g.78171124=, NC_000006.11:g.78171124C>T, 13212041
95
NC_000007.14:g.147252273C>T, NG_007092.3:g.1141273=, NG_007092.2:g.1140913=, NG_007092.3:g.1141273C>T, 13223171, NC_000007.13:g.146949365=, NG_007092.2:g.1140913C>T, NC_000007.14:g.147252273=, rs13223171, NC_000007.13:g.146949365C>T, NM_014141.5:c.1349-47868C>T
96
NC_000007.13:g.87219481G>C, NC_000007.14:g.87590165G>C, NC_000007.14:g.87590165=, NG_011513.1:g.128084=, 56728537, NG_011513.1:g.128084C>G, NC_000007.14:g.87590165G>A, NC_000007.13:g.87219481=, NG_011513.1:g.128084C>T, rs13229143, 13229143, NC_000007.13:g.87219481G>A
98
NG_021208.2:g.95209G>C, 59082602, 17210415, NC_000006.11:g.154421844G>T, NC_000006.11:g.154421844=, NC_000006.12:g.154100709G>T, NG_021208.2:g.95209=, NG_021208.2:g.95209G>T, NC_000006.12:g.154100709=, NC_000006.11:g.154421844G>C, rs1323042, 1323042, NC_000006.12:g.154100709G>C
99
NC_000007.13:g.101088697G>C, rs13233066, 60100715, NC_000007.14:g.101445416=, NG_033785.2:g.87597G>A, rs52831560, NG_033785.2:g.87597G>C, NC_000007.13:g.101088697G>A, rs60100715, 13233066, NM_133457.4:c.282-2274G>A, NC_000007.14:g.101445416G>C, 52831560, NG_033785.2:g.87597=, NC_000007.14:g.101445416G>A, NM_001278563.2:c.282-2268G>A, NC_000007.13:g.101088697=