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项目:8731第1至20项

1
2

1491303096卢比[智人]
    变量类型:
    INS(惯性导航系统)
    等位基因:
    ->关贸总协定[展示侧翼]
    染色体:
    1:17050378(GRCh38)
    1:17376874(GRCh37)
    标准SPDI:
    NC_ 000001.11:17050378::GATTAC
    基因:
    SDHB公司(Varview公司)
    功能后果:
    内含子变异体
    已验证:
    按频率、按alfa、按簇
    最大允许流量:
    GATTAC=0.001041/17(ALFA公司)
    GATTAC=0.003795/17(爱沙尼亚语)
    GATTAC=0.005153/33(1000个基因组)
    GATTAC=0.010115/1416(GnomAD)
    GATTAC=0.02/12(瑞典北部)
    HGVS:
    三。

    1491281076卢比[智人]
      变量类型:
      DELINS公司
      等位基因:
      ->自动变速箱[展示侧翼]
      染色体:
      1:17049648(GRCh38)
      1:17376144(GRCh37)
      标准SPDI:
      NC_ 000001.11:17049648:T:TAT
      基因:
      SDHB公司(Varview公司)
      功能后果:
      内含子变异体
      HGVS:
      4

      1491261064卢比[智人]
        变量类型:
        DEL公司
        等位基因:
        TG>-[展示侧翼]
        染色体:
        1分17042979秒(GRCh38)
        1:17369474(GRCh37)
        标准SPDI:
        NC_ 000001.11:17042978:TG:
        基因:
        SDHB公司(Varview公司)
        功能后果:
        内含子变异体
        已验证:
        按频率、按alfa、按簇
        最大允许流量:
        -=0.004721/56(ALFA公司)
        -=0.000237/29(GnomAD)
        -=0.000505/14(托莫)
        HGVS:
        5

        rs1491238412已并入397835910卢比[智人]
          变量类型:
          德林
          等位基因:
          TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTT TTTTTTTT、TTTTTTT、TTTT,TTTTTTTT TTTTTTttTTTTTTT、TTTTTTtt TTTTTTPT、TTTTttttTTTT、TTTT TTTTTTTTttTTTTTTT、TTTTTT、TTTT,TTTTTTTTttTTTTTTtt TTTTTT TTTTTTT、TTTTTTTITTTTTTT/TTTTTTT.TTTTTTTTTTTTTTS、TTTTttttTTTT、TTTT TTTTTTTT,,TTTTTTTTttTTTTTT,TTTTTTTTttTTTTTT[展示侧翼]
          染色体:
          1:17049659(GRCh38)
          1:17376154(GRCh37)
          标准SPDI:
          NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTT.,NC_ 000001.11:1704647:TTTTTTtt TTTTTTT/TTTTTTT:TTTTT,NC_ 0.000.11:17049667:TTTTTTTTTTTT,NC_00001.11:170447:TTTT TTTTTTTT:TTTTTTTTTTTTT,NC_ 000001.11:17049647:TTTTTTTTttTTTTTTTCTTTTTTTTTTTTTT,NC_ 00000 1.11:1704647:TTTTTTBTTTTTTT,TTTTTTtt,NC_ 000001.11:17049647:ttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttt,NC_ 000001.11:17049647:TTTTTTTTttTTTTTTTCTTTTTTTTTTTTTT,NC_ 00000 1.11:1704647:TTTTTT,TTTTTTtt,TTTTT TTTTTTTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTTT TTTTTTTTTTTTT,NC_ 000001 1.11:1704647:TTTTTTT/TTTTTTTCTTTTTTtt,NC_ 0000 1.11:170447:TTTTT TTTTTTTT,NC_ 000001.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTTT:TTTTTTTCTTTTTTtt,NC_ 00000 1.11:1704647:TTTTTTBTTTTTTTT/TTTTTTTDTTTTTT:,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTTITTTTTTtt,NC_ 000001.11:170467:TTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTTT:TTTTTTtt TTTTTTTITTTTTTTCTTTTTTT.,NC_ 000001.11:1704647:,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTtt TTTTTTTITTTTTTTCTTTTTTT/TTTTTTTDTTTTTTTTTTTTTT.,NC_ 000001.11:1704647:,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTTITTTTTTtt TTTTTTT/TTTTTTTCTTTTTTTTTTTTTT.,NC_ 000001.11:1704647:TTTTTTTDTTTTTTBTTTTTTTTLTTTTTT:TTTTttttTTTTtttt TTTT,NC_00000 1.11-17049647:TTTTTTNTTTTTTT:TTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTTT:TTTTTTtt TTTTTTTITTTTTTTCTTTTTTT/TTTTTTT.,NC_ 000001.11:1704647:TTTTTTTSTTTTTTBTTTTTTTTDTTTTTTTLTTTTTT:TTTT、,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTTT:TTTTTTtt TTTTTTTITTTTTTTCTTTTTTT/TTTTTTT.,NC_ 000001.11:1704647:TTTTTTBTTTTTTTTFTTTTTTTDTTTTTTTLTTTTTT:TTTTTTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTTITTTTTTtt TTTTTTTCTTTTTTT/TTTTTTTDTTTTTTT.TTTTTTTTTTTTTTFTTTTTTTLTTTTTTTSTTTTTT:TTTTTTTTttTTTTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTTITTTTTTtt TTTTTTTCTTTTTTT/TTTTTTTTTTTTTBTTTTTTTTDTTTTTTTFTTTTTTT.TTTTTTTLTTTTTTTSTTTTTT:TTTTTTT-TTTTTTNTTTTTTT:TTTTTTRTTTTTTTCTTTTTTTGTTTTTTT,NC_ 000001.11:170447:TTTT TTTTTTTT,NC_ 000001.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTT/TTTTTTtt TTTTTTTITTTTTTBTTTTTTTTTTTTTTTCTTTTTTTDTTTTTTTFTTTTTTT.TTTTTTTSTTTTTTTLTTTTTT:,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:
          基因:
          SDHB公司(Varview公司)
          功能后果:
          内含子变异体
          已验证:
          按频率、按alfa、按簇
          最大允许流量:
          TTTTTTTTT=0./0(ALFA公司)
          HGVS:
          NC_ 000001.11:g.17049659_17049677del,NC_ 000001.11:g.17049660_17049677del,NC_ 000001.11:g.17049661_17049677删除,NC_ 000001.11:g.17049662_17049677型号,NC_ 000001.11:g.17049663_17049677del,NC_ 000001.11:g.17049664_17049677del,NC_ 000001.11:g.17049665_17049677del,NC_ 000001.11:g.17049666_17049677del,NC_ 000001.11:g.17049667_17049677del,NC_ 000001.11:g.17049668_17049677del,NC_ 000001.11:g.17049669_17049677型号,NC_ 000001.11:g.17049670_17049677del,NC_ 000001.11:g.17049671_17049677删除,NC_ 000001.11:g.17049672_17049677删除,NC_ 000001.11:g.17049673_17049677del,NC_ 000001.11:g.17049674_17049677型号,NC_ 000001.11:g.17049675_17049677del,NC_ 000001.11:g.17049676_17049677del,NC_ 000001.11:g.17049677删除,NC_ 000001.11:g.17049677dup,NC_ 000001.11:g.17049676_17049677复制,NC_ 000001.11:g.17049675_17049677复制,NC_ 000001.11:g.17049674_17049677复制,NC_ 000001.11:g.17049673_17049677复制,NC_ 000001.11:g.17049672_17049677重复,NC_ 000001.11:g.17049671_17049677重复,NC_ 000001.11:g.17049670_17049677dup,NC_ 000001.11:g.17049669_17049677复制,NC_ 000001.11:g.17049668_17049677复制,NC_ 000001.11:g.17049667_17049677dup,NC_ 000001.11:g.17049666_17049677dup,NC_ 000001.11:g.17049665_17049677复制,NC_ 000001.11:g.17049664_17049677复制,NC_ 000001.11:g.17049663_17049677复制,NC_ 000001.11:g.17049662_17049677重复,NC_ 000001.11:g.17049661_17049677重复,NC_ 000001.11:g.17049660_17049677dup,NC_ 000001.11:g.17049659_17049677复制,NC_ 000001.11:g.17049658_17049677复制,NC_ 000001.11:g.17049657_17049677dup,NC_ 000001.11:g.17049656_17049677复制,NC_ 000001.11:g.17049655_17049677重复,NC_ 000001.11:g.17049654_17049677复制,NC_ 000001.11:g.17049653_17049677复制,NC_ 000001.11:g.17049652_17049677重复,NC_ 000001.11:g.17049651_17049677重复,NC_ 000001.11:g.17049648_17049677复制,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.10:g.17376154_17376172del,NC_ 000001.10:g.17376155_17376172电话,NC_ 000001.10:g.17376156_17376172del,NC_ 000001.10:g.17376157_17376172del,NC_ 000001.10:g.17376158_17376172del,NC_ 000001.10:g.17376159_17376172del,NC_ 000001.10:g.17376160_17376172del,NC_ 000001.10:g.17376161_17376172del,NC_ 000001.10:g.17376162_17376172del,NC_ 000001.10:g.17376163_17376172del,NC_ 000001.10:g.17376164_17376172del,NC_ 000001.10:g.17376165_17376172del,NC_ 000001.10:g.17376166_17376172del,NC_ 000001.10:g.17376167_17376172del,NC_ 000001.10:g.17376168_17376172del,NC_ 000001.10:g.17376169_17376172del,NC_ 000001.10:g.17376170_17376172del,NC_ 000001.10:g.17376171_17376172del,NC_ 000001.10:g.17376172del,NC_ 000001.10:g.17376172dup,NC_ 000001.10:g.17376171_17376172dup,NC_ 000001.10:g.17376170_17376172dup,NC_ 000001.10:g.17376169_17376172dup,NC_ 000001.10:g.17376168_17376172dup,NC_ 000001.10:g.17376167_17376172dup,NC_ 000001.10:g.17376166_17376172dup,NC_ 000001.10:g.17376165_17376172dup,NC_ 000001.10:g.17376164_17376172以上,NC_ 000001.10:g.17376163_17376172dup,NC_ 000001.10:g.17376162_17376172dup,NC_ 000001.10:g.17376161_17376172dup,NC_ 000001.10:g.17376160_17376172dup,NC_ 000001.10:g.17376159_17376172dup,NC_ 000001.10:g.17376158_17376172dup,NC_ 000001.10:g.17376157_17376172以上,NC_ 000001.10:g.17376156_17376172dup,NC_ 000001.10:g.17376155_17376172dup,NC_ 000001.10:g.17376154_17376172dup,NC_ 000001.10:g.17376153_17376172dup,NC_ 000001.10:g.17376152_17376172以上,NC_ 000001.10:g.17376151_17376172dup,NC_ 000001.10:g.17376150_17376172dup,NC_ 000001.10:g.17376149_17376172dup,NC_ 000001.10:g.17376148_17376172dup,NC_ 000001.10:g.17376147_17376172dup,NC_ 000001.10:g.17376146_17376172dup,NC_ 000001.10:g.17376143_17376172dup,NC_ 000001.10:g.17376172_17376173英寸,NC_ 000001.10:g.17376172_17376173英寸,NC_ 000001.10:g.17376172_17376173英寸,NC_ 000001.10:g.17376172_17376173英寸,NC_ 000001.10:g.17376172_17376173英寸,NG_012340.1:g.9505_9523删除,NG_012340.1:g.9506_9523删除,NG_012340.1:g.9507_9523删除,NG_012340.1:g.9508_9523删除,NG_012340.1:g.9509_9523删除,NG_012340.1:g.9510_9523删除,NG_012340.1:g.9511_9523删除,NG_012340.1:g.9512_9523删除,NG_012340.1:g.9513_9523删除,NG_012340.1:g.9514_9523删除,NG_012340.1:g.9515_9523删除,NG_012340.1:g.9516_9523删除,NG_012340.1:g.9517_9523删除,NG_012340.1:g.9518_9523德尔,NG_012340.1:g.9519_9523删除,NG_012340.1:g.9520_9523删除,NG_012340.1:g.9521_9523删除,NG_012340.1:g.9522_9523删除,NG_012340.1:g.9523删除,NG_012340.1:g.9523复制,NG_012340.1:g.9522_9523重复,NG_012340.1:g.9521_9523重复,NG_012340.1:g.9520_9523重复,NG_012340.1:g.9519_9523重复,NG_012340.1:g.9518_9523重复,NG_012340.1:g.9517_9523重复,NG_012340.1:g.9516_9523重复,NG_012340.1:g.9515_9523重复,NG_012340.1:g.9514_9523重复,NG_012340.1:g.9513_9523重复,NG_012340.1:g.9512_9523重复,NG_012340.1:g.9511_9523重复,NG_012340.1:g.9510_9523重复,NG_012340.1:g.9509_9523重复,NG_012340.1:g.9508_9523重复,NG_012340.1:g.9507_9523重复,NG_012340.1:g.9506_9523重复,NG_012340.1:g.9505_9523重复,NG_012340.1:g.9504_9523重复,NG_012340.1:g.9503_9523重复,NG_012340.1:g.9502_9523重复,NG_012340.1:g.9501_9523重复,NG_012340.1:g.9500_9523复制,NG_012340.1:g.9499_9523重复,NG_012340.1:g.9498_9523重复,NG_012340.1:g.9497_9523重复,NG_012340.1:g.9494_9523重复,NG_012340.1:g.9523_9524英寸,NG_012340.1:g.9523_9524英寸,NG_012340.1:g.9523_9524英寸,NG_012340.1:g.9523_9524英寸,NG_012340.1:g.9523_9524在AAAAAAAA中,NW_025791756.1:g.1464868复制,NW_025791756.1:g.1464851_1464868删除,NW_025791756.1:g.1464852_1464868德尔,NW_025791756.1:g.1464853_1464868德尔,NW_025791756.1:g.1464854_1464868德尔,NW_025791756.1:g.1464855_1464868德尔,NW_025791756.1:g.1464856_1464868del公司,NW_025791756.1:g.1464857_1464868删除,NW_025791756.1:g.1464858_1464868删除,NW_025791756.1:g.1464859_1464868德尔,NW_025791756.1:g.1464860_1464868德尔,NW_025791756.1:g.14648661_1464868del公司,NW_025791756.1:g.1464862_1464868德尔,NW_025791756.1:g.1464863_1464868删除,NW_025791756.1:g.1464864_1464868删除,NW_025791756.1:g.1464865_1464868德尔,NW_025791756.1:g.1464866_1464868德尔,NW_025791756.1:g.1464867_1464868德尔,NW_025791756.1:g.1464868删除,NW_025791756.1:g.1464867_1464868复制,NW_025791756.1:g.1464866_1464868复制,NW_025791756.1:g.1464865_1464868复制,NW_025791756.1:g.1464864_1464868复制,NW_025791756.1:g.1464863_1464868复制,NW_025791756.1:g.1464862_1464868复制,NW_025791756.1:g.1464861_1464868复制,NW_025791756.1:g.1464860_1464868复制,NW_025791756.1:g.1464859_1464868复制,NW_025791756.1:g.1464858_1464868复制,NW_025791756.1:g.1464857_1464868复制,NW_025791756.1:g.1464856_1464868复制,NW_025791756.1:g.1464855_1464868复制,NW_025791756.1:g.1464854_1464868复制,NW_025791756.1:g.1464853_1464868复制,NW_025791756.1:g.1464852_1464868复制,NW_025791756.1:g.1464851_1464868复制,NW_025791756.1:g.1464850_1464868复制,NW_025791756.1:g.1464849_1464868以上,NW_025791756.1:g.1464848_1464868复制,NW_025791756.1:g.1464847_1464868复制,NW_025791756.1:g.1464846_1464868复制,NW_025791756.1:g.1464845_1464868复制,NW_025791756.1:g.1464844_1464868复制,NW_025791756.1:g.1464843_1464868复制,NW_025791756.1:g.1464842_1464868重复,NW_025791756.1:g.1464841_1464868复制,NW_025791756.1:g.1464868_1464869英寸,NW_025791756.1:g.1464868_1464869英寸,NW_025791756.1:g.1464868_1464869英寸,NW_025791756.1:g.1464868_1464869英寸TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NW_025791756.1:g.1464868_1464869英寸,NW_025791756.1:g.1464868_1464869英寸
          6

          rs1491130133已并入rs1408023385[智人]
            变量类型:
            DELINS公司
            等位基因:
            AGAG>-、AG、AGAGAG[展示侧翼]
            染色体:
            1:17047703(GRCh38)
            1:17374198(GRCh37)
            标准SPDI:
            NC_00001.11:17047696:AGAGAGAG:AGAGAG,NC_0000.111:17047666:AGAGAGAG:AGGAGAG,NC_0000001.11:17044696:AGGAGAG:AGAGGAGAGAG
            基因:
            SDHB公司(Varview公司)
            功能后果:
            内含子变异体
            已验证:
            按频率、按alfa、按簇
            最大允许流量:
            AGAGAGAG=0./0(ALFA公司)
            AG=0.000035/1(托莫)
            -=0.000178/47(顶部)
            HGVS:
            7

            1490995019卢比[智人]
              变量类型:
              SNV公司
              等位基因:
              T> G公司[展示侧翼]
              染色体:
              1:17047511(GRCh38)
              1:17374006(GRCh37)
              标准SPDI:
              NC_ 000001.11:17047510:电话:G
              基因:
              SDHB公司(Varview公司)
              功能后果:
              内含子变异体
              已验证:
              按频率,按alfa
              最大允许流量:
              G=0./0(ALFA公司)
              G=0.000008/2(顶部)
              HGVS:
              8

              rs1490815439已并入rs1401779262[智人]
                变量类型:
                DELINS公司
                等位基因:
                A> -,AA[展示侧翼]
                染色体:
                1:17030189(GRCh38)
                1:17356684(GRCh37)
                标准SPDI:
                NC_00001.11:17030188:AAAAAAAA:AAAAAA,NC_00000.11:17030188:AAAAAAAA:AAAAAA
                基因:
                SDHB公司(Varview公司)
                功能后果:
                内含子变异体
                已验证:
                按频率、按alfa、按簇
                最大允许流量:
                AAAAAAAAA=0./0(ALFA公司)
                -=0.00011/2(托莫)
                -=0.00109/2(韩国1K)
                HGVS:
                9

                1490813531卢比[智人]
                  变量类型:
                  SNV公司
                  等位基因:
                  C> 吨[展示侧翼]
                  染色体:
                  1:17039010(GRCh38)
                  1:17365505(GRCh37)
                  标准SPDI:
                  NC_ 000001.11:17039009:C:T
                  基因:
                  SDHB公司(Varview公司)
                  功能后果:
                  内含子变异体
                  已验证:
                  按频率、按alfa、按簇
                  最大允许流量:
                  T=0./0(ALFA公司)
                  T=0.000007/1(GnomAD)
                  T=0.000011/3(顶部)
                  HGVS:
                  10

                  1490788833卢比[智人]
                    变量类型:
                    SNV公司
                    等位基因:
                    C> G公司[展示侧翼]
                    染色体:
                    1993年1月17日(GRCh38)
                    1:17366428(GRCh37)
                    标准SPDI:
                    NC_ 000001.11:17039932:C:G
                    基因:
                    SDHB公司(可变视图)
                    功能后果:
                    内含子变异体
                    已验证:
                    按频率,按alfa
                    最大允许流量:
                    G=0./0(ALFA公司)
                    G=0.000004/1(顶部)
                    HGVS:
                    11

                    1490724653卢比[智人]
                      变量类型:
                      DELINS公司
                      等位基因:
                      AGGC>-[展示侧翼]
                      染色体:
                      1:17023215(GRCh38)
                      1:17349710(GRCh37)
                      标准SPDI:
                      NC_ 000001.11:17023212:GCAGGC:GC
                      基因:
                      SDHB公司(Varview公司)
                      功能后果:
                      内含子变异体
                      已验证:
                      按频率、按alfa、按簇
                      最大允许流量:
                      GC=0./0(ALFA公司)
                      -=0.000007/1(GnomAD)
                      -=0.000015/4(顶部)
                      -=0.000177/3(托莫)
                      -=0.001092/2(韩国)
                      HGVS:
                      12

                      1490653346卢比[智人]
                        变量类型:
                        DEL公司
                        等位基因:
                        G>(G)-[展示侧翼]
                        染色体:
                        1:17029126(GRCh38)
                        1:17355621(GRCh37)
                        标准SPDI:
                        NC_ 000001.11:17029125:G:
                        基因:
                        SDHB公司(Varview公司)
                        功能后果:
                        内含子变异体
                        HGVS:
                        13

                        1490617502卢比[智人]
                          变量类型:
                          DEL公司
                          等位基因:
                          C>(C)-[展示侧翼]
                          染色体:
                          1:17054694(GRCh38)
                          1:17381189(GRCh37)
                          标准SPDI:
                          NC_ 000001.11:17054693:C:
                          基因:
                          SDHB公司(可变视图)
                          功能后果:
                          2KB_上游_变量,上游_转录_变量
                          已验证:
                          按频率,按alfa
                          最大允许流量:
                          -=0./0(ALFA公司)
                          HGVS:
                          14

                          rs1490600271号[智人]
                            变量类型:
                            SNV公司
                            等位基因:
                            A> T型[展示侧翼]
                            染色体:
                            1:17031225(GRCh38)
                            1:17357720(GRCh37)
                            标准SPDI:
                            NC_ 000001.11:17031224:答:T
                            基因:
                            SDHB公司(Varview公司)
                            功能后果:
                            内含子变异体
                            已验证:
                            按频率、按alfa、按簇
                            最大允许流量:
                            T=0.000071/1(阿尔法)
                            T=0.000004/1(顶部)
                            T=0.000014/2(GnomAD)
                            HGVS:
                            15

                            rs1490503583[智人]
                              变量类型:
                              SNV公司
                              等位基因:
                              G> A、C[展示侧翼]
                              染色体:
                              1:17047901(GRCh38)
                              1:17374396(GRCh37)
                              标准SPDI:
                              NC_00001.11:17047900:G:A,NC_00000.11:17047900:G:C
                              基因:
                              SDHB公司(Varview公司)
                              功能后果:
                              内含子变异体
                              已验证:
                              按频率,按alfa
                              最大允许流量:
                              C=0./0(ALFA公司)
                              C=0.000004/1(顶部)
                              HGVS:
                              16

                              rs1490421372号[智人]
                                变体类型:
                                SNV公司
                                等位基因:
                                T> C类[展示侧翼]
                                染色体:
                                1分17045513秒(GRCh38)
                                1:17372008(GRCh37)
                                标准SPDI:
                                NC_ 000001.11:17045512:电话:C
                                基因:
                                SDHB公司(Varview公司)
                                功能后果:
                                内含子变异体
                                已验证:
                                按频率,按alfa
                                最大允许流量:
                                C=0./0(ALFA公司)
                                C=0.000007/1(GnomAD)
                                HGVS:
                                17

                                1490343703卢比[智人]
                                  变量类型:
                                  SNV公司
                                  等位基因:
                                  A> G公司[展示侧翼]
                                  染色体:
                                  1:17024510(GRCh38)
                                  1:17351005(GRCh37)
                                  标准SPDI:
                                  NC_ 000001.11:17024509:A:G
                                  基因:
                                  SDHB公司(Varview公司)
                                  功能后果:
                                  内含子变体
                                  已验证:
                                  按频率、按alfa、按簇
                                  最大允许流量:
                                  G=0./0(ALFA公司)
                                  G=0.000007/1(GnomAD)
                                  G=0.000008/2(顶部)
                                  HGVS:
                                  18

                                  1490323448卢比[智人]
                                    变量类型:
                                    SNV公司
                                    等位基因:
                                    A> G公司[展示侧翼]
                                    染色体:
                                    1:17030989(GRCh38)
                                    1:17357484(GRCh37)
                                    标准SPDI:
                                    NC_000001.11:17030988:A:G号
                                    基因:
                                    SDHB公司(Varview公司)
                                    功能后果:
                                    内含子变异体
                                    已验证:
                                    按频率,按alfa
                                    最大允许流量:
                                    G=0./0(ALFA公司)
                                    G=0.000091/12(GnomAD)
                                    HGVS:
                                    19

                                    rs1490320388已合并为34561776卢比[智人]
                                      变量类型:
                                      DELINS公司
                                      等位基因:
                                      AAAAAAAAA>-、AA、AAAA、AAAAA、AAAAAAAA、[展示侧翼]
                                      染色体:
                                      1:17039427(GRCh38)
                                      1:17365922(GRCh37)
                                      标准SPDI:
                                      NC_000001.11:17039415:AAAAAAAAAA AAAAAAAAAAAAAAA,NC_00001.11:17039 415:AAAA AAAA AAA AAAAAA,NC_0000001.11:170 39415:,NC_00001.11:17039415:AAAAAAAAAA:AAAAAA3AAAAAAAA,NC_0000.11:17039415:AAAAAA,AAAAAAaaAAAAAAAEAAAAAA,NC_0000001.11:17039 AAAAAAAAAA:,NC_00001.11:17039415:AAAAAAAAAA AAAAAAaaAAAAAAA,NC_0000.11:17039415,AAAAAA3AAAAAAAAEAAAAAA,NC_0000001.11:17039,AAAAAA
                                      基因:
                                      SDHB公司(Varview公司)
                                      功能后果:
                                      内含子变异体
                                      已验证:
                                      按频率、按alfa、按簇
                                      最大允许流量:
                                      AAAAAAAAAA=0./0(ALFA公司)
                                      -=0.000008/2(顶部)
                                      HGVS:
                                      NC_ 000001.11:g.17039427_17039437del,NC_ 000001.11:g.17039429_17039437删除,NC_ 000001.11:g.17039431_17039437型号,NC_ 000001.11:g.17039432_17039437删除,NC_ 000001.11:g.17039435_17039437删除,NC_ 000001.11:g.17039436_17039437删除,NC_ 000001.11:g.17039437删除,NC_ 000001.11:g.17039437dup,NC_ 000001.11:g.17039436_17039437dup,NC_ 000001.11:g.17039435_17039437重复,NC_ 000001.11:g.17039434_17039437dup,NC_ 000001.11:g.17039433_17039437dup,NC_ 000001.11:g.17039432_17039437复制,NC_ 000001.10:g.17365922_17365932删除,NC_ 000001.10:g.17365924_17365932电话,NC_ 000001.10:g.17365926_17365932删除,NC_ 000001.10:g.17365927_17365932删除,NC_ 000001.10:g.17365930_17365932删除,NC_ 000001.10:g.17365931_17365932删除,NC_ 000001.10:g.17365932del,NC_ 000001.10:g.17365932dup,NC_ 000001.10:g.17365931_17365932复制,NC_ 000001.10:g.17365930_17365932复制,NC_ 000001.10:g.17365929_17365932复制,NC_ 000001.10:g.17365928_17365932复制,NC_ 000001.10:g.17365927_17365932复制,NG_012340.1:g.19745_19755德尔,NG_012340.1:g.19747_19755德尔,NG_012340.1:g.19749_19755德尔,NG_012340.1:g.19750_19755德尔,NG_012340.1:g.19753_19755德尔,NG_012340.1:g.19754_19755德尔,NG_012340.1:g.19755del,NG_012340.1:g.19755dup,NG_012340.1:g.19754_19755dup,NG_012340.1:g.19753_19755dup,NG_012340.1:g.19752_19755dup,NG_012340.1:g.19751_19755dup,NG_012340.1:g.19750_19755dup,NW_025791756.1:g.1454620_1454630删除,NW_025791756.1:g.1454622_1454630电话,NW_025791756.1:g.1454624_1454630删除,NW_025791756.1:g.1454625_1454630删除,NW_025791756.1:g.1454628_1454630删除,NW_025791756.1:g.1454629_1454630删除,NW_025791756.1:g.1454630删除,NW_025791756.1:g.1454630dup,NW_025791756.1:g.1454629_1454630重复,NW_025791756.1:g.1454628_1454630复制,NW_025791756.1:g.1454627_1454630复制,NW_025791756.1:g.1454626_1454630复制,NW_025791756.1:g.1454625_1454630复制
                                      20

                                      1490295027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:
                                        1:17040613(GRCh38)
                                        2017年1月17日(GRCh37)
                                        标准SPDI:
                                        NC_ 000001.11:17040612:C:T
                                        基因:
                                        SDHB公司(Varview公司)
                                        功能后果:
                                        内含子变异体
                                        已验证:
                                        按频率、按alfa、按簇
                                        最大允许流量:
                                        T=0./0(ALFA公司)
                                        T=0.000004/1(顶部)
                                        T=0.000007/1(GnomAD)
                                        HGVS:

                                        显示设置:

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