当前位置:药药网 / 数据中心 /注释的变体摘要(本栏目收费,不能显示细节,电话15274084725)
变体名称:
基因符号:
别名:
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
102
NC_000007.13:g.86314420=, rs13242038, NC_000007.14:g.86685104C>T, XM_011516089.1:c.-141+40232C>T, NC_000007.14:g.86685104=, 13242038, XM_005250289.1:c.100+40232C>T, XM_011516090.1:c.-141+40232C>T, XM_011516088.1:c.-141+40232C>T, NM_000840.2:c.-141+40232C>T, XM_005250287.1:c.84+40232C>T, NC_000007.13:g.86314420C>T
105
XM_011544485.1:c.480-12856G>C, NC_000008.10:g.21576409C>G, XM_005273472.1:c.837-12856G>C, XM_011544484.1:c.795-12856G>C, NC_000008.11:g.21718897C>G, NM_001165039.1:c.396-12856G>C, XM_006716327.2:c.795-12856G>C, 13250096, XM_005273473.1:c.795-12856G>C, XM_005273475.1:c.438-12856G>C, NG_029215.1:g.74938G>C, NM_001495.4:c.795-12856G>C, NC_000008.11:g.21718897=, NC_000008.10:g.21576409=, XM_005273475.2:c.438-12856G>C, NG_029215.1:g.74938=, NG_029215.2:g.74938=, XM_005273474.1:c.522-12856G>C, rs13250096, NM_001165038.1:c.480-12856G>C, NG_029215.2:g.74938G>C
106
NC_000008.11:g.32535292=, NG_012005.2:g.901071=, NM_001160001.1:c.38-60537A>G, NM_013962.2:c.746-60537A>G, 13250975, NM_001159995.1:c.38-60537A>G, NC_000008.10:g.32392809=, NC_000008.10:g.32392809A>G, 57207719, NG_012005.1:g.900542A>G, rs13250975, NM_001159999.1:c.38-60537A>G, NC_000008.11:g.32535292A>G, NG_012005.2:g.901071A>G, XM_011544512.1:c.122-60536A>G, XM_005273488.1:c.122-60537A>G, rs57207719
107
NM_001291962.1:c.-17-2479A>G, NM_001160171.3:c.-86+1624A>G, NM_000662.7:c.-86+4218A>G, NC_000008.10:g.18071907=, NG_012245.2:g.48937=, NG_012245.2:g.48937A>G, rs56448840, 13253389, NC_000008.10:g.18071907A>C, rs52801872, XM_005273678.1:c.-86+4443A>G, NC_000008.11:g.18214398=, NC_000008.10:g.18071907A>G, NG_012245.2:g.48937A>C, rs59927611, NM_001160176.3:c.-17-2479A>G, NC_000008.11:g.18214398A>T, NC_000008.11:g.18214398A>G, NC_000008.10:g.18071907A>T, NG_012245.2:g.48937A>T, XM_005273679.1:c.-86+1624A>G, NC_000008.11:g.18214398A>C, NM_001160172.3:c.-86+1853A>G, NM_001160175.3:c.-17-2479A>G, NM_001160179.2:c.-86+4443A>G, XM_011544687.1:c.-18+1624A>G, XM_005273677.1:c.-17-2479A>G, 52801872, NM_001160170.3:c.-86+1624A>G, rs13253389, XM_011544688.1:c.-18+1624A>G, NM_001160173.3:c.-86+3056A>G, 56448840, 59927611
109
NG_008177.2:g.82888=, NC_000008.11:g.11754806C>T, NC_000008.10:g.11612315C>A, NC_000008.10:g.11612315C>T, NC_000008.11:g.11754806C>A, NG_008177.2:g.82888C>A, NC_000008.11:g.11754806=, 61610907, rs13264774, NG_008177.2:g.82888C>T, 13264774, NC_000008.10:g.11612315=
110
NP_000762.2:p.Ile207=, NG_008385.1:g.14260=, NP_000762.2:p.Ile207Thr, rs1326630788, NC_000010.10:g.96707674=, NC_000010.11:g.94947917T>C, NC_000010.11:g.94947917=, NG_008385.1:g.14260T>C, NG_008385.2:g.14760=, NG_008385.2:g.14760T>C, 1326630788, NC_000010.10:g.96707674T>C
111
NC_000008.11:g.117172544C>T, XP_011515183.1:p.Arg325Trp, NC_000008.10:g.118184783C>T, NM_001172813.1:c.826C>T, NC_000008.10:g.118184783=, rs13266634, XR_928570.1:n.1020+71G>A, NG_016991.1:g.227272=, NM_173851.2:c.973C>T, NP_001166285.1:p.Arg276Trp, NC_000008.11:g.117172544C>A, NG_016991.1:g.227272C>A, NM_001172815.1:c.826C>T, XP_011515184.1:p.Arg276Trp, 13266634, NP_776250.2:p.Arg325Trp, XM_011516881.1:c.973C>T, XP_005250866.1:p.Arg276Trp, 57876063, rs17813302, XR_928569.1:n.1020+71G>A, NM_001172811.1:c.826C>T, NP_001166282.1:p.Arg276Trp, NG_016991.1:g.227272C>T, NP_776250.2:p.Arg325=, NM_001172814.1:c.826C>T, NC_000008.10:g.118184783C>A, 17813302, XM_011516882.1:c.826C>T, NC_000008.11:g.117172544=, NM_001172815.2:c.826C>T, rs57876063, XM_005250809.1:c.826C>T, NP_001166286.1:p.Arg276Trp, NP_001166284.1:p.Arg276Trp
112
13269021, NG_029483.1:g.29022C>A, NG_016619.2:g.137651=, NC_000008.10:g.6396763G>T, NC_000008.11:g.6539242G>A, NC_000008.11:g.6539242=, NG_029483.1:g.29022C>T, rs13269021, NG_016619.2:g.137651G>T, NC_000008.10:g.6396763G>A, NC_000008.11:g.6539242G>T, NC_000008.10:g.6396763=, NG_016619.2:g.137651G>A, NG_029483.1:g.29022=
113
NG_008177.2:g.82954=, NC_000008.11:g.11754872T>C, XM_005272386.1:c.913-174T>C, NC_000008.10:g.11612381=, NC_000008.11:g.11754872T>A, 13273672, XM_005272387.1:c.292-174T>C, NG_008177.2:g.82954T>C, XM_011543818.1:c.913-174T>C, NG_008177.2:g.82954T>A, NC_000008.11:g.11754872=, XM_011543817.1:c.913-174T>C, XM_005272384.1:c.913-174T>C, NC_000008.10:g.11612381T>C, XM_005272385.3:c.913-174T>C, NC_000008.10:g.11612381T>A, NM_002052.4:c.910-174T>C, XM_006716249.2:c.292-174T>C, XM_005272385.1:c.913-174T>C, rs60845489, 60845489, rs13273672, NM_001308094.1:c.292-174T>C, XM_006716248.1:c.913-174T>C, NM_001308093.1:c.913-174T>C
114
NG_008177.2:g.71648=, 13275657, NC_000008.11:g.11743566G>C, NC_000008.10:g.11601075=, NG_053896.1:g.4392G>C, NC_000008.11:g.11743566G>A, NG_053896.1:g.4392G>A, NG_053896.1:g.4392=, NC_000008.10:g.11601075G>A, NC_000008.10:g.11601075G>C, rs13275657, NG_008177.2:g.71648G>A, NG_008177.2:g.71648G>C, NC_000008.11:g.11743566=
117
rs17515045, NG_007259.1:g.30036T>C, rs386527907, NG_007259.1:g.30036T>A, XM_005245111.1:c.428-430T>G, 386527907, NC_000001.11:g.196677046T>A, NG_007259.1:g.30036=, NC_000001.11:g.196677046T>C, NC_000001.11:g.196677046T>G, NC_000001.10:g.196646176T>G, NM_000186.3:c.428-430T>G, 17515045, NC_000001.10:g.196646176=, NC_000001.10:g.196646176T>A, XM_005245112.1:c.428-430T>G, NC_000001.10:g.196646176T>C, NM_001014975.2:c.428-430T>G, rs1329424, NG_007259.1:g.30036T>G, 1329424, NC_000001.11:g.196677046=
118
rs58125214, 1329428, rs1329428, NC_000001.11:g.196733680C>T, NC_000001.10:g.196702810C>T, NG_007259.1:g.86670=, NG_007259.1:g.86670C>G, NC_000001.10:g.196702810=, NM_000186.3:c.2414-3144C>T, 58125214, NG_007259.1:g.86670C>T, NC_000001.10:g.196702810C>G, NC_000001.11:g.196733680=, NC_000001.11:g.196733680C>G
119
NC_000001.11:g.2016961C>T, NC_000001.10:g.1948400C>A, 13303344, 59303420, NG_008168.1:g.2633C>T, NC_000001.10:g.1948400C>T, NC_000001.11:g.2016961=, rs13303344, NC_000001.11:g.2016961C>A, NG_008168.1:g.2633=, NC_000001.10:g.1948400=, NG_008168.1:g.2633C>A, 56557212
120
9597, NC_000016.9:g.1374951C>G, NM_003345.4:c.*157C>G, NM_194260.2:c.*157C>G, NC_000016.9:g.1374951=, NC_000016.10:g.1324950C>G, NC_000016.10:g.1324950=, NM_194261.2:c.*157C>G, rs9597, NM_194259.2:c.*157C>G, XM_005255544.1:c.*157C>G, NC_000016.9:g.1374951C>T, 74248366, NC_000016.10:g.1324950C>T, rs74248366