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Items: 1 to 20 of 1000

1.

rs1491553720 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GC [Show Flanks]
    Chromosome:
    20:37373385 (GRCh38)
    20:36001789 (GRCh37)
    Canonical SPDI:
    NC_000020.11:37373385:C:CGC
    Gene:
    SRC (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    CG=0.000021/3 (GnomAD)
    HGVS:
    2.

    rs1491544238 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATATA>-,TATA [Show Flanks]
      Chromosome:
      20:37373400 (GRCh38)
      20:36001803 (GRCh37)
      Canonical SPDI:
      NC_000020.11:37373397:TATATATA:TA,NC_000020.11:37373397:TATATATA:TATATA
      Gene:
      SRC (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATATA=0.000254/3 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491518070 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C,CTC,CTCTC [Show Flanks]
        Chromosome:
        20:37360219 (GRCh38)
        20:35988623 (GRCh37)
        Canonical SPDI:
        NC_000020.11:37360219::C,NC_000020.11:37360219::CTC,NC_000020.11:37360219::CTCTC
        Gene:
        SRC (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        CTCTC=0./0 (ALFA)
        CTC=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491496677 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CT,CTTCT [Show Flanks]
          Chromosome:
          20:37370991 (GRCh38)
          20:35999395 (GRCh37)
          Canonical SPDI:
          NC_000020.11:37370991:T:TCT,NC_000020.11:37370991:T:TCTTCT
          Gene:
          SRC (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TCT=0.00017/2 (ALFA)
          HGVS:
          5.

          rs1491458014 has merged into rs3222151 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->A,ACACA [Show Flanks]
            Chromosome:
            20:37365371 (GRCh38)
            20:35993775 (GRCh37)
            Canonical SPDI:
            NC_000020.11:37365371::A,NC_000020.11:37365371::ACACA
            Gene:
            SRC (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1491428136 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->TC,TG [Show Flanks]
              Chromosome:
              20:37373150 (GRCh38)
              20:36001554 (GRCh37)
              Canonical SPDI:
              NC_000020.11:37373150::TC,NC_000020.11:37373150::TG
              Gene:
              SRC (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TG=0./0 (ALFA)
              HGVS:
              7.

              rs1491408429 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                20:37379942 (GRCh38)
                20:36008345 (GRCh37)
                Canonical SPDI:
                NC_000020.11:37379941:TA:
                Gene:
                SRC (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.00017/2 (ALFA)
                -=0.00005/1 (TOMMO)
                -=0.00009/4 (GnomAD)
                HGVS:
                8.

                rs1491375333 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  20:37378128 (GRCh38)
                  20:36006531 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:37378127:AT:
                  Gene:
                  SRC (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.000071/1 (ALFA)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491258436 has merged into rs1037803774 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ACGCATATATACGCATATAT>-,ACGCATATAT,ACGCATATATACGCATATATACGCATATAT [Show Flanks]
                    Chromosome:
                    20:37373405 (GRCh38)
                    20:36001808 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:37373398:ATATATACGCATATATACGCATATAT:ATATAT,NC_000020.11:37373398:ATATATACGCATATATACGCATATAT:ATATATACGCATATAT,NC_000020.11:37373398:ATATATACGCATATATACGCATATAT:ATATATACGCATATATACGCATATATACGCATATAT
                    Gene:
                    SRC (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATATATACGCATATATACGCATATATACGCATATAT=0./0 (ALFA)
                    -=0.00167/1 (NorthernSweden)
                    HGVS:
                    10.

                    rs1491210942 has merged into rs57772720 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAACAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAGAGGATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGATTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAACAAAAGAGAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAACGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAACTAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAACAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAGGGGGGGGAGGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAGAGAGCTTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAGAAAAGTTGGAGGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGAAAAAAAAAGGAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      20:37379950 (GRCh38)
                      20:36008353 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAACAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAGAGGATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGATTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAACAAAAGAGAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAACGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAACTAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAACAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAGGGGGGGGAGGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAGAGAGCTTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAGAAAAGTTGGAGGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGAAAAAAAAAGGAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:37379942:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      SRC (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAA=0./0 (ALFA)
                      AAAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
                      AAAAAAAAAAAAAAAAAA=0.0008/4 (1000Genomes)
                      -=0.0687/25 (NorthernSweden)
                      HGVS:
                      NC_000020.11:g.37379950_37379967del, NC_000020.11:g.37379954_37379967del, NC_000020.11:g.37379955_37379967del, NC_000020.11:g.37379956_37379967del, NC_000020.11:g.37379957_37379967del, NC_000020.11:g.37379958_37379967del, NC_000020.11:g.37379959_37379967del, NC_000020.11:g.37379960_37379967del, NC_000020.11:g.37379961_37379967del, NC_000020.11:g.37379962_37379967del, NC_000020.11:g.37379963_37379967del, NC_000020.11:g.37379964_37379967del, NC_000020.11:g.37379965_37379967del, NC_000020.11:g.37379966_37379967del, NC_000020.11:g.37379967del, NC_000020.11:g.37379967dup, NC_000020.11:g.37379966_37379967dup, NC_000020.11:g.37379965_37379967dup, NC_000020.11:g.37379964_37379967dup, NC_000020.11:g.37379945_37379967dup, NC_000020.11:g.37379943_37379967A[48]GA[2]ATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[48]GAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[44]GAAGAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[44]GAAGGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[38]GAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[38]GAAAAAACAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[37]GAAAAAAAAAAAAAAAAAAGAGGATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[27]GAAAAAAAAAAAAAAAAAAAAAATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[27]GAAAAAAAAAAAAAAAAAAAAGAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[27]GAAAAAAAAAAAAAAAAAAAAGATTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[27]GAAAAAAAAAAAAAACAAAAGAGAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAACGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAACTAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAGAACAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAGAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAAAGGGGGGGGAGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAAGAGAGCTTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAAAAAAGAAAAGTTGGAGGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAAAAAAAAAGAAAAAAAAAGGAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.37379943_37379967A[26]GAAAA[2]A[24], NC_000020.10:g.36008353_36008370del, NC_000020.10:g.36008357_36008370del, NC_000020.10:g.36008358_36008370del, NC_000020.10:g.36008359_36008370del, NC_000020.10:g.36008360_36008370del, NC_000020.10:g.36008361_36008370del, NC_000020.10:g.36008362_36008370del, NC_000020.10:g.36008363_36008370del, NC_000020.10:g.36008364_36008370del, NC_000020.10:g.36008365_36008370del, NC_000020.10:g.36008366_36008370del, NC_000020.10:g.36008367_36008370del, NC_000020.10:g.36008368_36008370del, NC_000020.10:g.36008369_36008370del, NC_000020.10:g.36008370del, NC_000020.10:g.36008370dup, NC_000020.10:g.36008369_36008370dup, NC_000020.10:g.36008368_36008370dup, NC_000020.10:g.36008367_36008370dup, NC_000020.10:g.36008348_36008370dup, NC_000020.10:g.36008346_36008370A[48]GA[2]ATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[48]GAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[44]GAAGAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[44]GAAGGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[38]GAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[38]GAAAAAACAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[37]GAAAAAAAAAAAAAAAAAAGAGGATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[27]GAAAAAAAAAAAAAAAAAAAAAATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[27]GAAAAAAAAAAAAAAAAAAAAGAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[27]GAAAAAAAAAAAAAAAAAAAAGATTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[27]GAAAAAAAAAAAAAACAAAAGAGAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAACGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAACTAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAGAACAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAGAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAAAGGGGGGGGAGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAAGAGAGCTTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAAAAAAGAAAAGTTGGAGGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAAAAAAAAAGAAAAAAAAAGGAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.36008346_36008370A[26]GAAAA[2]A[24], NG_023033.1:g.40266_40283del, NG_023033.1:g.40270_40283del, NG_023033.1:g.40271_40283del, NG_023033.1:g.40272_40283del, NG_023033.1:g.40273_40283del, NG_023033.1:g.40274_40283del, NG_023033.1:g.40275_40283del, NG_023033.1:g.40276_40283del, NG_023033.1:g.40277_40283del, NG_023033.1:g.40278_40283del, NG_023033.1:g.40279_40283del, NG_023033.1:g.40280_40283del, NG_023033.1:g.40281_40283del, NG_023033.1:g.40282_40283del, NG_023033.1:g.40283del, NG_023033.1:g.40283dup, NG_023033.1:g.40282_40283dup, NG_023033.1:g.40281_40283dup, NG_023033.1:g.40280_40283dup, NG_023033.1:g.40261_40283dup, NG_023033.1:g.40259_40283A[48]GA[2]ATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[48]GAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[44]GAAGAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[44]GAAGGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[38]GAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[38]GAAAAAACAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[37]GAAAAAAAAAAAAAAAAAAGAGGATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[27]GAAAAAAAAAAAAAAAAAAAAAATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[27]GAAAAAAAAAAAAAAAAAAAAGAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[27]GAAAAAAAAAAAAAAAAAAAAGATTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[27]GAAAAAAAAAAAAAACAAAAGAGAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAACGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAACTAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAGAACAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAGAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAAAGGGGGGGGAGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAAGAGAGCTTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAAAAAAGAAAAGTTGGAGGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAAAAAAAAAGAAAAAAAAAGGAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023033.1:g.40259_40283A[26]GAAAA[2]A[24], NW_025791812.1:g.289452_289469del, NW_025791812.1:g.289456_289469del, NW_025791812.1:g.289457_289469del, NW_025791812.1:g.289458_289469del, NW_025791812.1:g.289459_289469del, NW_025791812.1:g.289460_289469del, NW_025791812.1:g.289461_289469del, NW_025791812.1:g.289462_289469del, NW_025791812.1:g.289463_289469del, NW_025791812.1:g.289464_289469del, NW_025791812.1:g.289465_289469del, NW_025791812.1:g.289466_289469del, NW_025791812.1:g.289467_289469del, NW_025791812.1:g.289468_289469del, NW_025791812.1:g.289469del, NW_025791812.1:g.289469dup, NW_025791812.1:g.289468_289469dup, NW_025791812.1:g.289467_289469dup, NW_025791812.1:g.289466_289469dup, NW_025791812.1:g.289447_289469dup, NW_025791812.1:g.289445_289469A[48]GA[2]ATAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[48]GAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[44]GAAGAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[44]GAAGGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[38]GAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[38]GAAAAAACAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[37]GAAAAAAAAAAAAAAAAAAGAGGATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[27]GAAAAAAAAAAAAAAAAAAAAAATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[27]GAAAAAAAAAAAAAAAAAAAAGAAGGGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[27]GAAAAAAAAAAAAAAAAAAAAGATTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[27]GAAAAAAAAAAAAAACAAAAGAGAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAACGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAACTAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAAGGGGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAGAACAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAGAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAAAGGGGGGGGAGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAAGAGAGCTTGGAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAAAAAAGAAAAGTTGGAGGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAAAAAAAAAGAAAAAAAAAGGAAGAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_025791812.1:g.289445_289469A[26]GAAAA[2]A[24]
                      11.

                      rs1491197775 has merged into rs61476973 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        20:37360228 (GRCh38)
                        20:35988631 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:37360218:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        SRC (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTT=0./0 (ALFA)
                        HGVS:
                        NC_000020.11:g.37360228_37360238del, NC_000020.11:g.37360229_37360238del, NC_000020.11:g.37360230_37360238del, NC_000020.11:g.37360231_37360238del, NC_000020.11:g.37360232_37360238del, NC_000020.11:g.37360233_37360238del, NC_000020.11:g.37360234_37360238del, NC_000020.11:g.37360235_37360238del, NC_000020.11:g.37360236_37360238del, NC_000020.11:g.37360237_37360238del, NC_000020.11:g.37360238del, NC_000020.11:g.37360238dup, NC_000020.11:g.37360237_37360238dup, NC_000020.11:g.37360236_37360238dup, NC_000020.11:g.37360235_37360238dup, NC_000020.11:g.37360234_37360238dup, NC_000020.11:g.37360233_37360238dup, NC_000020.11:g.37360232_37360238dup, NC_000020.11:g.37360231_37360238dup, NC_000020.11:g.37360230_37360238dup, NC_000020.11:g.37360229_37360238dup, NC_000020.11:g.37360228_37360238dup, NC_000020.11:g.37360227_37360238dup, NC_000020.11:g.37360226_37360238dup, NC_000020.11:g.37360225_37360238dup, NC_000020.11:g.37360224_37360238dup, NC_000020.11:g.37360223_37360238dup, NC_000020.11:g.37360222_37360238dup, NC_000020.11:g.37360221_37360238dup, NC_000020.11:g.37360220_37360238dup, NC_000020.11:g.37360219_37360238dup, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.37360238_37360239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988631_35988641del, NC_000020.10:g.35988632_35988641del, NC_000020.10:g.35988633_35988641del, NC_000020.10:g.35988634_35988641del, NC_000020.10:g.35988635_35988641del, NC_000020.10:g.35988636_35988641del, NC_000020.10:g.35988637_35988641del, NC_000020.10:g.35988638_35988641del, NC_000020.10:g.35988639_35988641del, NC_000020.10:g.35988640_35988641del, NC_000020.10:g.35988641del, NC_000020.10:g.35988641dup, NC_000020.10:g.35988640_35988641dup, NC_000020.10:g.35988639_35988641dup, NC_000020.10:g.35988638_35988641dup, NC_000020.10:g.35988637_35988641dup, NC_000020.10:g.35988636_35988641dup, NC_000020.10:g.35988635_35988641dup, NC_000020.10:g.35988634_35988641dup, NC_000020.10:g.35988633_35988641dup, NC_000020.10:g.35988632_35988641dup, NC_000020.10:g.35988631_35988641dup, NC_000020.10:g.35988630_35988641dup, NC_000020.10:g.35988629_35988641dup, NC_000020.10:g.35988628_35988641dup, NC_000020.10:g.35988627_35988641dup, NC_000020.10:g.35988626_35988641dup, NC_000020.10:g.35988625_35988641dup, NC_000020.10:g.35988624_35988641dup, NC_000020.10:g.35988623_35988641dup, NC_000020.10:g.35988622_35988641dup, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.35988641_35988642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20544_20554del, NG_023033.1:g.20545_20554del, NG_023033.1:g.20546_20554del, NG_023033.1:g.20547_20554del, NG_023033.1:g.20548_20554del, NG_023033.1:g.20549_20554del, NG_023033.1:g.20550_20554del, NG_023033.1:g.20551_20554del, NG_023033.1:g.20552_20554del, NG_023033.1:g.20553_20554del, NG_023033.1:g.20554del, NG_023033.1:g.20554dup, NG_023033.1:g.20553_20554dup, NG_023033.1:g.20552_20554dup, NG_023033.1:g.20551_20554dup, NG_023033.1:g.20550_20554dup, NG_023033.1:g.20549_20554dup, NG_023033.1:g.20548_20554dup, NG_023033.1:g.20547_20554dup, NG_023033.1:g.20546_20554dup, NG_023033.1:g.20545_20554dup, NG_023033.1:g.20544_20554dup, NG_023033.1:g.20543_20554dup, NG_023033.1:g.20542_20554dup, NG_023033.1:g.20541_20554dup, NG_023033.1:g.20540_20554dup, NG_023033.1:g.20539_20554dup, NG_023033.1:g.20538_20554dup, NG_023033.1:g.20537_20554dup, NG_023033.1:g.20536_20554dup, NG_023033.1:g.20535_20554dup, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023033.1:g.20554_20555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269730_269740del, NW_025791812.1:g.269731_269740del, NW_025791812.1:g.269732_269740del, NW_025791812.1:g.269733_269740del, NW_025791812.1:g.269734_269740del, NW_025791812.1:g.269735_269740del, NW_025791812.1:g.269736_269740del, NW_025791812.1:g.269737_269740del, NW_025791812.1:g.269738_269740del, NW_025791812.1:g.269739_269740del, NW_025791812.1:g.269740del, NW_025791812.1:g.269740dup, NW_025791812.1:g.269739_269740dup, NW_025791812.1:g.269738_269740dup, NW_025791812.1:g.269737_269740dup, NW_025791812.1:g.269736_269740dup, NW_025791812.1:g.269735_269740dup, NW_025791812.1:g.269734_269740dup, NW_025791812.1:g.269733_269740dup, NW_025791812.1:g.269732_269740dup, NW_025791812.1:g.269731_269740dup, NW_025791812.1:g.269730_269740dup, NW_025791812.1:g.269729_269740dup, NW_025791812.1:g.269728_269740dup, NW_025791812.1:g.269727_269740dup, NW_025791812.1:g.269726_269740dup, NW_025791812.1:g.269725_269740dup, NW_025791812.1:g.269724_269740dup, NW_025791812.1:g.269723_269740dup, NW_025791812.1:g.269722_269740dup, NW_025791812.1:g.269721_269740dup, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791812.1:g.269740_269741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        12.

                        rs1491111279 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CG>- [Show Flanks]
                          Chromosome:
                          20:37365371 (GRCh38)
                          20:35993774 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:37365370:CG:
                          Gene:
                          SRC (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          14.

                          rs1490969287 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G,T [Show Flanks]
                            Chromosome:
                            20:37402773 (GRCh38)
                            20:36031176 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:37402772:C:A,NC_000020.11:37402772:C:G,NC_000020.11:37402772:C:T
                            Gene:
                            SRC (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000020.11:g.37402773C>A, NC_000020.11:g.37402773C>G, NC_000020.11:g.37402773C>T, NC_000020.10:g.36031176C>A, NC_000020.10:g.36031176C>G, NC_000020.10:g.36031176C>T, NG_023033.1:g.63089C>A, NG_023033.1:g.63089C>G, NG_023033.1:g.63089C>T, NM_005417.5:c.1295C>A, NM_005417.5:c.1295C>G, NM_005417.5:c.1295C>T, NM_005417.4:c.1295C>A, NM_005417.4:c.1295C>G, NM_005417.4:c.1295C>T, NM_198291.3:c.1295C>A, NM_198291.3:c.1295C>G, NM_198291.3:c.1295C>T, NM_198291.2:c.1295C>A, NM_198291.2:c.1295C>G, NM_198291.2:c.1295C>T, NW_025791812.1:g.312275C>A, NW_025791812.1:g.312275C>G, NW_025791812.1:g.312275C>T, XM_017028026.2:c.1313C>A, XM_017028026.2:c.1313C>G, XM_017028026.2:c.1313C>T, XM_017028026.1:c.1313C>A, XM_017028026.1:c.1313C>G, XM_017028026.1:c.1313C>T, XM_047440407.1:c.1373C>A, XM_047440407.1:c.1373C>G, XM_047440407.1:c.1373C>T, XM_047440408.1:c.1373C>A, XM_047440408.1:c.1373C>G, XM_047440408.1:c.1373C>T, XM_047440399.1:c.1313C>A, XM_047440399.1:c.1313C>G, XM_047440399.1:c.1313C>T, XM_047440400.1:c.1313C>A, XM_047440400.1:c.1313C>G, XM_047440400.1:c.1313C>T, XM_047440405.1:c.1295C>A, XM_047440405.1:c.1295C>G, XM_047440405.1:c.1295C>T, XM_047440396.1:c.1313C>A, XM_047440396.1:c.1313C>G, XM_047440396.1:c.1313C>T, XM_047440402.1:c.1295C>A, XM_047440402.1:c.1295C>G, XM_047440402.1:c.1295C>T, XM_047440397.1:c.1313C>A, XM_047440397.1:c.1313C>G, XM_047440397.1:c.1313C>T, XM_047440401.1:c.1295C>A, XM_047440401.1:c.1295C>G, XM_047440401.1:c.1295C>T, XM_047440411.1:c.1295C>A, XM_047440411.1:c.1295C>G, XM_047440411.1:c.1295C>T, XM_047440410.1:c.1295C>A, XM_047440410.1:c.1295C>G, XM_047440410.1:c.1295C>T, XM_047440409.1:c.1373C>A, XM_047440409.1:c.1373C>G, XM_047440409.1:c.1373C>T, XM_047440406.1:c.1295C>A, XM_047440406.1:c.1295C>G, XM_047440406.1:c.1295C>T, XM_047440398.1:c.1313C>A, XM_047440398.1:c.1313C>G, XM_047440398.1:c.1313C>T, XM_047440403.1:c.1295C>A, XM_047440403.1:c.1295C>G, XM_047440403.1:c.1295C>T, XM_047440413.1:c.1295C>A, XM_047440413.1:c.1295C>G, XM_047440413.1:c.1295C>T, XM_047440404.1:c.1295C>A, XM_047440404.1:c.1295C>G, XM_047440404.1:c.1295C>T, XM_047440412.1:c.1295C>A, XM_047440412.1:c.1295C>G, XM_047440412.1:c.1295C>T, NP_005408.1:p.Thr432Lys, NP_005408.1:p.Thr432Arg, NP_005408.1:p.Thr432Met, NP_938033.1:p.Thr432Lys, NP_938033.1:p.Thr432Arg, NP_938033.1:p.Thr432Met, XP_016883515.1:p.Thr438Lys, XP_016883515.1:p.Thr438Arg, XP_016883515.1:p.Thr438Met, XP_047296363.1:p.Thr458Lys, XP_047296363.1:p.Thr458Arg, XP_047296363.1:p.Thr458Met, XP_047296364.1:p.Thr458Lys, XP_047296364.1:p.Thr458Arg, XP_047296364.1:p.Thr458Met, XP_047296355.1:p.Thr438Lys, XP_047296355.1:p.Thr438Arg, XP_047296355.1:p.Thr438Met, XP_047296356.1:p.Thr438Lys, XP_047296356.1:p.Thr438Arg, XP_047296356.1:p.Thr438Met, XP_047296361.1:p.Thr432Lys, XP_047296361.1:p.Thr432Arg, XP_047296361.1:p.Thr432Met, XP_047296352.1:p.Thr438Lys, XP_047296352.1:p.Thr438Arg, XP_047296352.1:p.Thr438Met, XP_047296358.1:p.Thr432Lys, XP_047296358.1:p.Thr432Arg, XP_047296358.1:p.Thr432Met, XP_047296353.1:p.Thr438Lys, XP_047296353.1:p.Thr438Arg, XP_047296353.1:p.Thr438Met, XP_047296357.1:p.Thr432Lys, XP_047296357.1:p.Thr432Arg, XP_047296357.1:p.Thr432Met, XP_047296367.1:p.Thr432Lys, XP_047296367.1:p.Thr432Arg, XP_047296367.1:p.Thr432Met, XP_047296366.1:p.Thr432Lys, XP_047296366.1:p.Thr432Arg, XP_047296366.1:p.Thr432Met, XP_047296365.1:p.Thr458Lys, XP_047296365.1:p.Thr458Arg, XP_047296365.1:p.Thr458Met, XP_047296362.1:p.Thr432Lys, XP_047296362.1:p.Thr432Arg, XP_047296362.1:p.Thr432Met, XP_047296354.1:p.Thr438Lys, XP_047296354.1:p.Thr438Arg, XP_047296354.1:p.Thr438Met, XP_047296359.1:p.Thr432Lys, XP_047296359.1:p.Thr432Arg, XP_047296359.1:p.Thr432Met, XP_047296369.1:p.Thr432Lys, XP_047296369.1:p.Thr432Arg, XP_047296369.1:p.Thr432Met, XP_047296360.1:p.Thr432Lys, XP_047296360.1:p.Thr432Arg, XP_047296360.1:p.Thr432Met, XP_047296368.1:p.Thr432Lys, XP_047296368.1:p.Thr432Arg, XP_047296368.1:p.Thr432Met
                            15.

                            rs1490911377 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:37379171 (GRCh38)
                              20:36007574 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:37379170:G:A
                              Gene:
                              SRC (Varview)
                              Functional Consequence:
                              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:
                              16.

                              rs1490893278 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                20:37346712 (GRCh38)
                                20:35975115 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:37346711:G:A
                                Gene:
                                SRC (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000224/1 (ALFA)
                                A=0.000014/2 (GnomAD)
                                A=0.000223/1 (Estonian)
                                HGVS:
                                17.

                                rs1490887070 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  20:37358161 (GRCh38)
                                  20:35986564 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:37358160:G:A
                                  Gene:
                                  SRC (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1490806861 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:37362459 (GRCh38)
                                    20:35990862 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:37362458:C:T
                                    Gene:
                                    SRC (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000019/5 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1490763298 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      20:37393549 (GRCh38)
                                      20:36021952 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:37393548:G:A
                                      Gene:
                                      SRC (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000029/4 (GnomAD)
                                      A=0.000035/1 (TOMMO)
                                      A=0.000038/10 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1490670248 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        20:37365938 (GRCh38)
                                        20:35994341 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:37365937:C:G
                                        Gene:
                                        SRC (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000084/1 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

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