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1

137933052卢比[智人]
    变量类型：
    SNV公司
    等位基因：
    C> T型[展示侧翼]
    染色体：
    9:115041016（GRCh38）
    9:117803295（GRCh37）
    标准SPDI:
    NC_ 000009.12:115041015：抄送
    基因：
    跨国公司(瓦尔维尤)
    功能后果：
    编码序列变量，错义变量
    临床意义:
    致病性，不确定性
    已验证：
    按频率、按alfa、按簇
    最大允许流量：
    温度=0.000084/3(ALFA公司)
    T=0.000077/1（GoESP）
    T=0.000082/10（ExAC）
    温度=0.000156/1（1000个基因组）
    温度=0.000163/41（GnomAD_exomes）
    T=0.000212/56（顶部）
    T=0.00025/35（GnomAD）
    T=0.000342/1（韩国）
    T=0.000546/1（韩国1K）
    HGVS：
    编号000009.12:g.115041016C>T,NC_ 000009.11:g.117803295C>T,NG_029637.1:g.82242G>A,NM_002160.4:c.5317G>A,NM_002160.3:c.5317G>A,NM_001410991.1：c.4771G>A,XM_006717096.5:c.5593G>A,XM_006717096.4:c.5593G>A,XM_006717096.3:c.5593G>A,XM_006717096.2:c.5593G>A,XM_006717096.1:c.5593G>A,XM_006717097.5:c.5044G>A,XM_006717097.4:c.5044G>A,XM_006717097.3:c.5044G>A,XM_006717097.2:c.5044G>A,XM_006717097.1:c.5044G>A,XM_005251972.5:c.5044G>A,XM_005251972.4:c.5044G>A,XM_005251972.3:c.5044G>A,XM_005251972.2:c.5044G>A,XM_005251972.1:c.5044G>A,XM_006717098.5：c.4771G>A,XM_006717098.4:c.4771G>A,XM_006717098.3：c.4771G>A,XM_006717098.2：c.4771G>A,XM_006717098.1:c.4771G>A,XM_005251973.5:c.4225G>A,XM_005251973.4:c.4225G>A,XM_005251973.3:c.4225G>A,XM_005251973.2:c.4225G>A,XM_005251973.1:c.4225G>A,XM_006717101.5:c.3679G>A,XM_006717101.4:c.3679G>A,XM_006717101.3:c.3679G>A,XM_006717101.2:c.3679G>A,XM_006717101.1:c.3679G>A,XM_005251974.5:c.3679G>A,XM_005251974.4:c.3679G>A,XM_005251974.3:c.3679G>A,XM_005251974.2:c.3679G>A,XM_005251974.1:c.3679G>A,XM_005251975.5:c.3406G>A,XM_005251975.4:c.3406G>A,XM_005251975.3:c.3406G>A,XM_005251975.2:c.3406G>A,XM_005251975.1:c.3406G>A,XM_011518625.4:c.4771G>A,XM_011518625.3:c.4771G>A,XM_011518625.2:c.4771G>A,XM_011518625.1:c.4771G>A,XM_011518626.4:c.4501G>A,XM_011518626.3:c.4501G>A,XM_011518626.2:c.4501G>A,XM_011518626.1:c.4501G>A,XM_011518629.4:c.3952G>A,XM_011518629.3:c.3952G>A,XM_011518629.2:c.3952G>A,XM_011518629.1:c.3952G>A,XM_011518628.4:c.3952G>A,XM_011518628.3:c.3952G>A,XM_011518628.2:c.3952G>A,XM_011518628.1:c.3952G>A,XM_017014678.3:c.5866G>A,XM_017014678.2:c.5866G>A,XM_017014678.1:c.5866G>A,XM_017014679.3:c.5593G>A,XM_017014679.2：c.5593G>A,XM_017014679.1:c.5593G>A,XM_017014680.3:约5590G>A,XM_017014680.2:c.5590G>A,XM_017014680.1:c.5590G>A,XM_017014681.3:c.4774G>A,XM_017014681.2:c.4774G>A,XM_017014681.1:c.4774G>A,XM_024447530.2:c.5866G>A,XM_024447530.1:c.5866G>A,XM_047423310.1:c.55866G>A,XM_047423309.1:c.5866G>A,XM_047423311.1:c.5593G>A,XM_047423316.1:c.5317G>A,XM_047423314.1：c.5320G>A,XM_047423315.1:c.5317G>A,XM_047423312.1：c.5320G>A,XM_047423313.1:约5317G>A,XM_047423320.1:c.5044G>A,XM_047423318.1:c.5044G>A,XM_047423319.1:c.5044G>A,XM_047423317.1:c.5044G>A,XM_047423323.1:c.4771G>A,XM_047423322.1:c.4771G>A,XM_047423321.1:c.4771G>A,XM_047423325.1:c.4498G>A,XM_047423324.1:c.4498G>A,XM_047423328.1:c.4225G>A,XM_047423327.1:c.4225G>A,XM_047423326.1:c.4225G>A,XM_047423329.1:c.3952G>A,XM_047423330.1:c.3679G>A,XM_047423332.1:c.3406G>A,XM_047423331.1:c.3406G>A,NP_002151.2:p.Val1773已设定,XP_006717159.1：p.Val1865设置,XP_006717160.1:p.Val1682最大值,XP_005252029.1:p.Val1682已设置,XP_006717161.1:p.Val1591已设置,XP_005252030.1:p.Val1409Met公司,XP_006717164.1:p.Val1227Met公司,XP_005252031.1：p.Val1227Met公司,XP_005252032.1：p.Val1136Met公司,XP_011516927.1:p.Val1591已设置,XP_011516928.1:p.Val1501已满足,XP_011516931.1：p.Val1318Met公司,XP_011516930.1：p.Val1318Met公司,XP_016870167.1:p.Val1956Met公司,XP_016870168.1:p.Val1865设置,XP_016870169.1:p.Val1864已设置,XP_016870170.1:p.Val1592已设置,XP_024303298.1：p.Val1956Met公司,XP_047279266.1：p.Val1956Met公司,XP_047279265.1：p.Val1956Met公司,XP_047279267.1：p.Val1865设置,XP_047279272.1:p.Val1773百万,XP_047279270.1:p.Val1774已设置,XP_047279271.1:p.Val1773已设置,XP_047279268.1:p.Val1774已设置,XP_047279269.1：p.Val1773设置,XP_047279276.1：p.Val1682已设置,XP_047279274.1：p.Val1682已设置,XP_047279275.1：p.Val1682已设置,XP_047279273.1：p.Val1682已设置,XP_047279279.1：p.Val1591已设置,XP_047279278.1：p.Val1591已设置,XP_047279277.1：p.Val1591已设置,XP_047279281.1：p.Val1500Met公司,XP_047279280.1：p.Val1500Met公司,XP_047279284.1：p.Val1409Met公司,XP_047279283.1：p.Val1409Met公司,XP_047279282.1：p.Val1409Met公司,XP_047279285.1：p.Val1318Met公司,XP_047279286.1：p.Val1227Met公司,XP_047279288.1：p.Val1136Met公司,XP_047279287.1：p.Val1136Met公司

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