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Items: 1 to 20 of 1000

1.

rs1491562590 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->G
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491555382 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->ATG [Show Flanks]
      Chromosome:
      7:81741566 (GRCh38)
      7:81370883 (GRCh37)
      Canonical SPDI:
      NC_000007.14:81741566:ATG:ATGATG
      Gene:
      HGF (Varview)
      Functional Consequence:
      downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATGATG=0.000071/1 (ALFA)
      ATG=0.000007/1 (GnomAD)
      ATG=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1491518692 has merged into rs552915726 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        7:81722823 (GRCh38)
        7:81352139 (GRCh37)
        Canonical SPDI:
        NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:81722813:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        HGF (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAA=0./0 (ALFA)
        A=0.3009/1507 (1000Genomes)
        -=0.4167/15 (GENOME_DK)
        HGVS:
        NC_000007.14:g.81722823_81722831del, NC_000007.14:g.81722825_81722831del, NC_000007.14:g.81722826_81722831del, NC_000007.14:g.81722828_81722831del, NC_000007.14:g.81722829_81722831del, NC_000007.14:g.81722830_81722831del, NC_000007.14:g.81722831del, NC_000007.14:g.81722831dup, NC_000007.14:g.81722830_81722831dup, NC_000007.14:g.81722829_81722831dup, NC_000007.14:g.81722828_81722831dup, NC_000007.14:g.81722816_81722831dup, NC_000007.13:g.81352139_81352147del, NC_000007.13:g.81352141_81352147del, NC_000007.13:g.81352142_81352147del, NC_000007.13:g.81352144_81352147del, NC_000007.13:g.81352145_81352147del, NC_000007.13:g.81352146_81352147del, NC_000007.13:g.81352147del, NC_000007.13:g.81352147dup, NC_000007.13:g.81352146_81352147dup, NC_000007.13:g.81352145_81352147dup, NC_000007.13:g.81352144_81352147dup, NC_000007.13:g.81352132_81352147dup, NG_016274.2:g.52315_52323del, NG_016274.2:g.52317_52323del, NG_016274.2:g.52318_52323del, NG_016274.2:g.52320_52323del, NG_016274.2:g.52321_52323del, NG_016274.2:g.52322_52323del, NG_016274.2:g.52323del, NG_016274.2:g.52323dup, NG_016274.2:g.52322_52323dup, NG_016274.2:g.52321_52323dup, NG_016274.2:g.52320_52323dup, NG_016274.2:g.52308_52323dup
        4.

        rs1491471656 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          7:81722845 (GRCh38)
          7:81352161 (GRCh37)
          Canonical SPDI:
          NC_000007.14:81722844:GT:
          Gene:
          HGF (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.001044/17 (ALFA)
          -=0.000283/5 (TOMMO)
          -=0.001583/182 (GnomAD)
          -=0.003571/16 (Estonian)
          -=0.006667/4 (NorthernSweden)
          HGVS:
          5.

          rs1491324272 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            7:81741567 (GRCh38)
            7:81370883 (GRCh37)
            Canonical SPDI:
            NC_000007.14:81741565:TAT:T
            Gene:
            HGF (Varview)
            Functional Consequence:
            downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            -=0.000123/17 (GnomAD)
            -=0.000156/1 (1000Genomes)
            HGVS:
            6.

            rs1491275740 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              7:81722813 (GRCh38)
              7:81352129 (GRCh37)
              Canonical SPDI:
              NC_000007.14:81722812:CA:
              Gene:
              HGF (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1491176589 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CATATATATATATATA,CATATATATATATATATATATATATA [Show Flanks]
                Chromosome:
                7:81722845 (GRCh38)
                7:81352162 (GRCh37)
                Canonical SPDI:
                NC_000007.14:81722845:TATA:TATACATATATATATATATA,NC_000007.14:81722845:TATA:TATACATATATATATATATATATATATATA
                Gene:
                HGF (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TATACATATATATATATATATATATATATA=0./0 (ALFA)
                TATACATATATATATA=0.000049/6 (GnomAD)
                HGVS:
                8.

                rs1491101809 has merged into rs199738928 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  7:81744314 (GRCh38)
                  7:81373630 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81744303:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  HGF (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                  TTT=0.4429/2218 (1000Genomes)
                  HGVS:
                  NC_000007.14:g.81744314_81744319del, NC_000007.14:g.81744315_81744319del, NC_000007.14:g.81744316_81744319del, NC_000007.14:g.81744317_81744319del, NC_000007.14:g.81744318_81744319del, NC_000007.14:g.81744319del, NC_000007.14:g.81744319dup, NC_000007.14:g.81744318_81744319dup, NC_000007.14:g.81744317_81744319dup, NC_000007.14:g.81744316_81744319dup, NC_000007.14:g.81744315_81744319dup, NC_000007.14:g.81744305_81744319dup, NC_000007.13:g.81373630_81373635del, NC_000007.13:g.81373631_81373635del, NC_000007.13:g.81373632_81373635del, NC_000007.13:g.81373633_81373635del, NC_000007.13:g.81373634_81373635del, NC_000007.13:g.81373635del, NC_000007.13:g.81373635dup, NC_000007.13:g.81373634_81373635dup, NC_000007.13:g.81373633_81373635dup, NC_000007.13:g.81373632_81373635dup, NC_000007.13:g.81373631_81373635dup, NC_000007.13:g.81373621_81373635dup, NG_016274.2:g.30828_30833del, NG_016274.2:g.30829_30833del, NG_016274.2:g.30830_30833del, NG_016274.2:g.30831_30833del, NG_016274.2:g.30832_30833del, NG_016274.2:g.30833del, NG_016274.2:g.30833dup, NG_016274.2:g.30832_30833dup, NG_016274.2:g.30831_30833dup, NG_016274.2:g.30830_30833dup, NG_016274.2:g.30829_30833dup, NG_016274.2:g.30819_30833dup
                  9.

                  rs1491085728 has merged into rs1160364775 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TA>-,TATA [Show Flanks]
                    Chromosome:
                    7:81741616 (GRCh38)
                    7:81370932 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:81741613:TATA:TA,NC_000007.14:81741613:TATA:TATATA
                    Gene:
                    HGF (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TATATA=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1491070370 has merged into rs3081099 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      7:81708535 (GRCh38)
                      7:81337851 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:81708524:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      HGF (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTT=0./0 (ALFA)
                      HGVS:
                      NC_000007.14:g.81708535_81708552del, NC_000007.14:g.81708536_81708552del, NC_000007.14:g.81708537_81708552del, NC_000007.14:g.81708538_81708552del, NC_000007.14:g.81708539_81708552del, NC_000007.14:g.81708540_81708552del, NC_000007.14:g.81708541_81708552del, NC_000007.14:g.81708542_81708552del, NC_000007.14:g.81708543_81708552del, NC_000007.14:g.81708544_81708552del, NC_000007.14:g.81708545_81708552del, NC_000007.14:g.81708546_81708552del, NC_000007.14:g.81708547_81708552del, NC_000007.14:g.81708548_81708552del, NC_000007.14:g.81708549_81708552del, NC_000007.14:g.81708550_81708552del, NC_000007.14:g.81708551_81708552del, NC_000007.14:g.81708552del, NC_000007.14:g.81708552dup, NC_000007.14:g.81708551_81708552dup, NC_000007.14:g.81708550_81708552dup, NC_000007.14:g.81708549_81708552dup, NC_000007.14:g.81708548_81708552dup, NC_000007.14:g.81708547_81708552dup, NC_000007.14:g.81708546_81708552dup, NC_000007.14:g.81708545_81708552dup, NC_000007.14:g.81708544_81708552dup, NC_000007.14:g.81708543_81708552dup, NC_000007.14:g.81708540_81708552dup, NC_000007.14:g.81708539_81708552dup, NC_000007.14:g.81708538_81708552dup, NC_000007.14:g.81708537_81708552dup, NC_000007.14:g.81708536_81708552dup, NC_000007.14:g.81708535_81708552dup, NC_000007.14:g.81708533_81708552dup, NC_000007.14:g.81708530_81708552dup, NC_000007.14:g.81708526_81708552dup, NC_000007.14:g.81708525_81708552dup, NC_000007.14:g.81708552_81708553insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.81337851_81337868del, NC_000007.13:g.81337852_81337868del, NC_000007.13:g.81337853_81337868del, NC_000007.13:g.81337854_81337868del, NC_000007.13:g.81337855_81337868del, NC_000007.13:g.81337856_81337868del, NC_000007.13:g.81337857_81337868del, NC_000007.13:g.81337858_81337868del, NC_000007.13:g.81337859_81337868del, NC_000007.13:g.81337860_81337868del, NC_000007.13:g.81337861_81337868del, NC_000007.13:g.81337862_81337868del, NC_000007.13:g.81337863_81337868del, NC_000007.13:g.81337864_81337868del, NC_000007.13:g.81337865_81337868del, NC_000007.13:g.81337866_81337868del, NC_000007.13:g.81337867_81337868del, NC_000007.13:g.81337868del, NC_000007.13:g.81337868dup, NC_000007.13:g.81337867_81337868dup, NC_000007.13:g.81337866_81337868dup, NC_000007.13:g.81337865_81337868dup, NC_000007.13:g.81337864_81337868dup, NC_000007.13:g.81337863_81337868dup, NC_000007.13:g.81337862_81337868dup, NC_000007.13:g.81337861_81337868dup, NC_000007.13:g.81337860_81337868dup, NC_000007.13:g.81337859_81337868dup, NC_000007.13:g.81337856_81337868dup, NC_000007.13:g.81337855_81337868dup, NC_000007.13:g.81337854_81337868dup, NC_000007.13:g.81337853_81337868dup, NC_000007.13:g.81337852_81337868dup, NC_000007.13:g.81337851_81337868dup, NC_000007.13:g.81337849_81337868dup, NC_000007.13:g.81337846_81337868dup, NC_000007.13:g.81337842_81337868dup, NC_000007.13:g.81337841_81337868dup, NC_000007.13:g.81337868_81337869insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016274.2:g.66595_66612del, NG_016274.2:g.66596_66612del, NG_016274.2:g.66597_66612del, NG_016274.2:g.66598_66612del, NG_016274.2:g.66599_66612del, NG_016274.2:g.66600_66612del, NG_016274.2:g.66601_66612del, NG_016274.2:g.66602_66612del, NG_016274.2:g.66603_66612del, NG_016274.2:g.66604_66612del, NG_016274.2:g.66605_66612del, NG_016274.2:g.66606_66612del, NG_016274.2:g.66607_66612del, NG_016274.2:g.66608_66612del, NG_016274.2:g.66609_66612del, NG_016274.2:g.66610_66612del, NG_016274.2:g.66611_66612del, NG_016274.2:g.66612del, NG_016274.2:g.66612dup, NG_016274.2:g.66611_66612dup, NG_016274.2:g.66610_66612dup, NG_016274.2:g.66609_66612dup, NG_016274.2:g.66608_66612dup, NG_016274.2:g.66607_66612dup, NG_016274.2:g.66606_66612dup, NG_016274.2:g.66605_66612dup, NG_016274.2:g.66604_66612dup, NG_016274.2:g.66603_66612dup, NG_016274.2:g.66600_66612dup, NG_016274.2:g.66599_66612dup, NG_016274.2:g.66598_66612dup, NG_016274.2:g.66597_66612dup, NG_016274.2:g.66596_66612dup, NG_016274.2:g.66595_66612dup, NG_016274.2:g.66593_66612dup, NG_016274.2:g.66590_66612dup, NG_016274.2:g.66586_66612dup, NG_016274.2:g.66585_66612dup, NG_016274.2:g.66612_66613insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      11.

                      rs1490944223 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        7:81750711 (GRCh38)
                        7:81380027 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:81750710:G:A
                        Gene:
                        HGF (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490790202 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          7:81711485 (GRCh38)
                          7:81340801 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:81711484:T:G
                          Gene:
                          HGF (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490738033 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:81742730 (GRCh38)
                            7:81372046 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:81742729:T:C
                            Gene:
                            HGF (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490700038 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              7:81727938 (GRCh38)
                              7:81357254 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:81727937:T:A
                              Gene:
                              HGF (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490686597 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                7:81743787 (GRCh38)
                                7:81373103 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:81743786:T:C
                                Gene:
                                HGF (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490616113 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:81733990 (GRCh38)
                                  7:81363306 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:81733989:G:A
                                  Gene:
                                  HGF (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0./0 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490597898 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    7:81770315 (GRCh38)
                                    7:81399631 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:81770314:G:A
                                    Gene:
                                    HGF (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490588192 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      7:81743392 (GRCh38)
                                      7:81372708 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:81743391:G:A,NC_000007.14:81743391:G:C,NC_000007.14:81743391:G:T
                                      Gene:
                                      HGF (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      NC_000007.14:g.81743392G>A, NC_000007.14:g.81743392G>C, NC_000007.14:g.81743392G>T, NC_000007.13:g.81372708G>A, NC_000007.13:g.81372708G>C, NC_000007.13:g.81372708G>T, NG_016274.2:g.31745C>T, NG_016274.2:g.31745C>G, NG_016274.2:g.31745C>A, NM_000601.6:c.826C>T, NM_000601.6:c.826C>G, NM_000601.6:c.826C>A, NM_000601.5:c.826C>T, NM_000601.5:c.826C>G, NM_000601.5:c.826C>A, NM_000601.4:c.826C>T, NM_000601.4:c.826C>G, NM_000601.4:c.826C>A, NM_001010932.3:c.811C>T, NM_001010932.3:c.811C>G, NM_001010932.3:c.811C>A, NM_001010932.2:c.811C>T, NM_001010932.2:c.811C>G, NM_001010932.2:c.811C>A, NM_001010932.1:c.811C>T, NM_001010932.1:c.811C>G, NM_001010932.1:c.811C>A, NM_001010931.3:c.826C>T, NM_001010931.3:c.826C>G, NM_001010931.3:c.826C>A, NM_001010931.2:c.826C>T, NM_001010931.2:c.826C>G, NM_001010931.2:c.826C>A, NM_001010931.1:c.826C>T, NM_001010931.1:c.826C>G, NM_001010931.1:c.826C>A, NM_001010933.3:c.811C>T, NM_001010933.3:c.811C>G, NM_001010933.3:c.811C>A, NM_001010933.2:c.811C>T, NM_001010933.2:c.811C>G, NM_001010933.2:c.811C>A, NM_001010933.1:c.811C>T, NM_001010933.1:c.811C>G, NM_001010933.1:c.811C>A, XM_047420293.1:c.826C>T, XM_047420293.1:c.826C>G, XM_047420293.1:c.826C>A, NP_000592.3:p.Pro276Ser, NP_000592.3:p.Pro276Ala, NP_000592.3:p.Pro276Thr, NP_001010932.1:p.Pro271Ser, NP_001010932.1:p.Pro271Ala, NP_001010932.1:p.Pro271Thr, NP_001010931.1:p.Pro276Ser, NP_001010931.1:p.Pro276Ala, NP_001010931.1:p.Pro276Thr, NP_001010933.1:p.Pro271Ser, NP_001010933.1:p.Pro271Ala, NP_001010933.1:p.Pro271Thr, XP_047276249.1:p.Pro276Ser, XP_047276249.1:p.Pro276Ala, XP_047276249.1:p.Pro276Thr
                                      19.

                                      rs1490559658 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        7:81702544 (GRCh38)
                                        7:81331860 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:81702543:G:A,NC_000007.14:81702543:G:C
                                        Gene:
                                        HGF (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490473766 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          7:81736252 (GRCh38)
                                          7:81365568 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:81736251:G:A
                                          Gene:
                                          HGF (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000023/6 (TOPMED)
                                          HGVS:

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