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Items: 1 to 20 of 945

1.

rs1491161200 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    10:103089336 (GRCh38)
    10:104849093 (GRCh37)
    Canonical SPDI:
    NC_000010.11:103089333:CTCT:CT
    Gene:
    NT5C2 (Varview), CNNM2 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTCT=0.000084/1 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000015/4 (TOPMED)
    -=0.001093/5 (1000Genomes)
    HGVS:
    NC_000010.11:g.103089334CT[1], NC_000010.10:g.104849091CT[1], NG_042272.1:g.108970AG[1], NM_012229.4:c.*335AG[1], NM_012229.5:c.*335AG[1], NM_001134373.2:c.*335AG[1], NM_001134373.3:c.*335AG[1], NM_001351179.1:c.*335AG[1], NM_001351179.2:c.*335AG[1], NM_001351189.1:c.*335AG[1], NM_001351189.2:c.*335AG[1], NM_001351190.1:c.*335AG[1], NM_001351190.2:c.*335AG[1], NM_001351173.1:c.*335AG[1], NM_001351173.2:c.*335AG[1], NM_001351193.1:c.*335AG[1], NM_001351192.1:c.*335AG[1], NM_001351187.1:c.*335AG[1], NM_001351187.2:c.*335AG[1], NM_001351174.1:c.*335AG[1], NM_001351191.1:c.*335AG[1], NM_001351186.1:c.*335AG[1], NM_001351186.2:c.*335AG[1], NM_001351175.1:c.*335AG[1], NM_001351175.2:c.*335AG[1], NM_001351182.1:c.*335AG[1], NM_001351182.2:c.*335AG[1], NM_001351185.1:c.*335AG[1], NM_001351185.2:c.*335AG[1], NM_001351184.1:c.*335AG[1], NM_001351184.2:c.*335AG[1], NM_001351178.1:c.*335AG[1], NM_001351178.2:c.*335AG[1], NM_001351188.1:c.*335AG[1], NM_001351188.2:c.*335AG[1], NM_001351172.1:c.*335AG[1], NM_001351172.2:c.*335AG[1], NM_001351197.1:c.*335AG[1], NM_001351197.2:c.*335AG[1], NM_001351169.1:c.*335AG[1], NM_001351169.2:c.*335AG[1], NM_001351196.1:c.*335AG[1], NM_001351196.2:c.*335AG[1], NM_001351171.1:c.*335AG[1], NM_001351171.2:c.*335AG[1], NM_001351180.1:c.*335AG[1], NM_001351180.2:c.*335AG[1], NM_001351195.1:c.*335AG[1], NM_001351195.2:c.*335AG[1], NM_001351177.1:c.*335AG[1], NM_001351177.2:c.*335AG[1], NM_001351170.1:c.*335AG[1], NM_001351170.2:c.*335AG[1], NM_001351176.1:c.*335AG[1], NM_001351176.2:c.*335AG[1], NM_001351194.1:c.*335AG[1], NM_001351194.2:c.*335AG[1], NM_001351183.1:c.*335AG[1], NM_001351183.2:c.*335AG[1], NM_001351181.1:c.*335AG[1], NM_001351181.2:c.*335AG[1], XM_005269637.6:c.*335AG[1], XM_005269637.5:c.*335AG[1], XM_005269637.4:c.*335AG[1], XM_005269637.3:c.*335AG[1], XM_005269637.2:c.*335AG[1], XM_005269637.1:c.*335AG[1], NM_017649.5:c.*12154CT[1], NM_199076.3:c.*12154CT[1], XM_017015947.3:c.*335AG[1], XM_017015947.2:c.*335AG[1], XM_017015947.1:c.*335AG[1], XM_024447901.2:c.*335AG[1], XM_024447901.1:c.*335AG[1], XM_024447902.2:c.*335AG[1], XM_024447902.1:c.*335AG[1], XM_011539537.2:c.*335AG[1], XM_011539537.1:c.*335AG[1], XM_024447903.2:c.*335AG[1], XM_024447903.1:c.*335AG[1], XM_047424857.1:c.*335AG[1], XM_047424851.1:c.*335AG[1], XM_047424844.1:c.*335AG[1], XM_047424849.1:c.*335AG[1], XM_047424847.1:c.*335AG[1], XM_047424845.1:c.*335AG[1], XM_047424848.1:c.*335AG[1], XM_047424846.1:c.*335AG[1], XM_047424850.1:c.*335AG[1], XM_047424855.1:c.*335AG[1], XM_047424853.1:c.*335AG[1], XM_047424856.1:c.*335AG[1], XM_047424852.1:c.*335AG[1], XM_047424854.1:c.*335AG[1], XM_047424858.1:c.*335AG[1], XM_047424859.1:c.*335AG[1]

    2.

    rs1489344355 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      10:103153535 (GRCh38)
      10:104913292 (GRCh37)
      Canonical SPDI:
      NC_000010.11:103153534:G:T
      Gene:
      NT5C2 (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1487890895 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        10:103089489 (GRCh38)
        10:104849246 (GRCh37)
        Canonical SPDI:
        NC_000010.11:103089488:A:T
        Gene:
        NT5C2 (Varview), CNNM2 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.103089489A>T, NC_000010.10:g.104849246A>T, NG_042272.1:g.108818T>A, NM_012229.4:c.*183T>A, NM_012229.5:c.*183T>A, NM_001134373.2:c.*183T>A, NM_001134373.3:c.*183T>A, NM_001351179.1:c.*183T>A, NM_001351179.2:c.*183T>A, NM_001351189.1:c.*183T>A, NM_001351189.2:c.*183T>A, NM_001351190.1:c.*183T>A, NM_001351190.2:c.*183T>A, NM_001351173.1:c.*183T>A, NM_001351173.2:c.*183T>A, NM_001351193.1:c.*183T>A, NM_001351192.1:c.*183T>A, NM_001351187.1:c.*183T>A, NM_001351187.2:c.*183T>A, NM_001351174.1:c.*183T>A, NM_001351191.1:c.*183T>A, NM_001351186.1:c.*183T>A, NM_001351186.2:c.*183T>A, NM_001351175.1:c.*183T>A, NM_001351175.2:c.*183T>A, NM_001351182.1:c.*183T>A, NM_001351182.2:c.*183T>A, NM_001351185.1:c.*183T>A, NM_001351185.2:c.*183T>A, NM_001351184.1:c.*183T>A, NM_001351184.2:c.*183T>A, NM_001351178.1:c.*183T>A, NM_001351178.2:c.*183T>A, NM_001351188.1:c.*183T>A, NM_001351188.2:c.*183T>A, NM_001351172.1:c.*183T>A, NM_001351172.2:c.*183T>A, NM_001351197.1:c.*183T>A, NM_001351197.2:c.*183T>A, NM_001351169.1:c.*183T>A, NM_001351169.2:c.*183T>A, NM_001351196.1:c.*183T>A, NM_001351196.2:c.*183T>A, NM_001351171.1:c.*183T>A, NM_001351171.2:c.*183T>A, NM_001351180.1:c.*183T>A, NM_001351180.2:c.*183T>A, NM_001351195.1:c.*183T>A, NM_001351195.2:c.*183T>A, NM_001351177.1:c.*183T>A, NM_001351177.2:c.*183T>A, NM_001351170.1:c.*183T>A, NM_001351170.2:c.*183T>A, NM_001351176.1:c.*183T>A, NM_001351176.2:c.*183T>A, NM_001351194.1:c.*183T>A, NM_001351194.2:c.*183T>A, NM_001351183.1:c.*183T>A, NM_001351183.2:c.*183T>A, NM_001351181.1:c.*183T>A, NM_001351181.2:c.*183T>A, XM_005269637.6:c.*183T>A, XM_005269637.5:c.*183T>A, XM_005269637.4:c.*183T>A, XM_005269637.3:c.*183T>A, XM_005269637.2:c.*183T>A, XM_005269637.1:c.*183T>A, NM_017649.5:c.*12309A>T, NM_199076.3:c.*12309A>T, XM_017015947.3:c.*183T>A, XM_017015947.2:c.*183T>A, XM_017015947.1:c.*183T>A, XM_024447901.2:c.*183T>A, XM_024447901.1:c.*183T>A, XM_024447902.2:c.*183T>A, XM_024447902.1:c.*183T>A, XM_011539537.2:c.*183T>A, XM_011539537.1:c.*183T>A, XM_024447903.2:c.*183T>A, XM_024447903.1:c.*183T>A, XM_047424857.1:c.*183T>A, XM_047424851.1:c.*183T>A, XM_047424844.1:c.*183T>A, XM_047424849.1:c.*183T>A, XM_047424847.1:c.*183T>A, XM_047424845.1:c.*183T>A, XM_047424848.1:c.*183T>A, XM_047424846.1:c.*183T>A, XM_047424850.1:c.*183T>A, XM_047424855.1:c.*183T>A, XM_047424853.1:c.*183T>A, XM_047424856.1:c.*183T>A, XM_047424852.1:c.*183T>A, XM_047424854.1:c.*183T>A, XM_047424858.1:c.*183T>A, XM_047424859.1:c.*183T>A

        4.

        rs1485037948 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          10:103088936 (GRCh38)
          10:104848693 (GRCh37)
          Canonical SPDI:
          NC_000010.11:103088935:C:T
          Gene:
          NT5C2 (Varview), CNNM2 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          T=0.000035/1 (TOMMO)
          HGVS:
          NC_000010.11:g.103088936C>T, NC_000010.10:g.104848693C>T, NG_042272.1:g.109371G>A, NM_012229.4:c.*736G>A, NM_012229.5:c.*736G>A, NM_001134373.2:c.*736G>A, NM_001134373.3:c.*736G>A, NM_001351179.1:c.*736G>A, NM_001351179.2:c.*736G>A, NM_001351189.1:c.*736G>A, NM_001351189.2:c.*736G>A, NM_001351190.1:c.*736G>A, NM_001351190.2:c.*736G>A, NM_001351173.1:c.*736G>A, NM_001351173.2:c.*736G>A, NM_001351193.1:c.*736G>A, NM_001351192.1:c.*736G>A, NM_001351187.1:c.*736G>A, NM_001351187.2:c.*736G>A, NM_001351174.1:c.*736G>A, NM_001351191.1:c.*736G>A, NM_001351186.1:c.*736G>A, NM_001351186.2:c.*736G>A, NM_001351175.1:c.*736G>A, NM_001351175.2:c.*736G>A, NM_001351182.1:c.*736G>A, NM_001351182.2:c.*736G>A, NM_001351185.1:c.*736G>A, NM_001351185.2:c.*736G>A, NM_001351184.1:c.*736G>A, NM_001351184.2:c.*736G>A, NM_001351178.1:c.*736G>A, NM_001351178.2:c.*736G>A, NM_001351188.1:c.*736G>A, NM_001351188.2:c.*736G>A, NM_001351172.1:c.*736G>A, NM_001351172.2:c.*736G>A, NM_001351197.1:c.*736G>A, NM_001351197.2:c.*736G>A, NM_001351169.1:c.*736G>A, NM_001351169.2:c.*736G>A, NM_001351196.1:c.*736G>A, NM_001351196.2:c.*736G>A, NM_001351171.1:c.*736G>A, NM_001351171.2:c.*736G>A, NM_001351180.1:c.*736G>A, NM_001351180.2:c.*736G>A, NM_001351195.1:c.*736G>A, NM_001351195.2:c.*736G>A, NM_001351177.1:c.*736G>A, NM_001351177.2:c.*736G>A, NM_001351170.1:c.*736G>A, NM_001351170.2:c.*736G>A, NM_001351176.1:c.*736G>A, NM_001351176.2:c.*736G>A, NM_001351194.1:c.*736G>A, NM_001351194.2:c.*736G>A, NM_001351183.1:c.*736G>A, NM_001351183.2:c.*736G>A, NM_001351181.1:c.*736G>A, NM_001351181.2:c.*736G>A, XM_005269637.6:c.*736G>A, XM_005269637.5:c.*736G>A, XM_005269637.4:c.*736G>A, XM_005269637.3:c.*736G>A, XM_005269637.2:c.*736G>A, XM_005269637.1:c.*736G>A, NM_017649.5:c.*11756C>T, NM_199076.3:c.*11756C>T, XM_017015947.3:c.*736G>A, XM_017015947.2:c.*736G>A, XM_017015947.1:c.*736G>A, XM_024447901.2:c.*736G>A, XM_024447901.1:c.*736G>A, XM_024447902.2:c.*736G>A, XM_024447902.1:c.*736G>A, XM_011539537.2:c.*736G>A, XM_011539537.1:c.*736G>A, XM_024447903.2:c.*736G>A, XM_024447903.1:c.*736G>A, XM_047424857.1:c.*736G>A, XM_047424851.1:c.*736G>A, XM_047424844.1:c.*736G>A, XM_047424849.1:c.*736G>A, XM_047424847.1:c.*736G>A, XM_047424845.1:c.*736G>A, XM_047424848.1:c.*736G>A, XM_047424846.1:c.*736G>A, XM_047424850.1:c.*736G>A, XM_047424855.1:c.*736G>A, XM_047424853.1:c.*736G>A, XM_047424856.1:c.*736G>A, XM_047424852.1:c.*736G>A, XM_047424854.1:c.*736G>A, XM_047424858.1:c.*736G>A, XM_047424859.1:c.*736G>A

          5.

          rs1485013553 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            10:103088437 (GRCh38)
            10:104848194 (GRCh37)
            Canonical SPDI:
            NC_000010.11:103088436:T:A
            Gene:
            NT5C2 (Varview), CNNM2 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            NC_000010.11:g.103088437T>A, NC_000010.10:g.104848194T>A, NG_042272.1:g.109870A>T, NM_012229.4:c.*1235A>T, NM_012229.5:c.*1235A>T, NM_001134373.2:c.*1235A>T, NM_001134373.3:c.*1235A>T, NM_001351179.1:c.*1235A>T, NM_001351179.2:c.*1235A>T, NM_001351189.1:c.*1235A>T, NM_001351189.2:c.*1235A>T, NM_001351190.1:c.*1235A>T, NM_001351190.2:c.*1235A>T, NM_001351173.1:c.*1235A>T, NM_001351173.2:c.*1235A>T, NM_001351193.1:c.*1235A>T, NM_001351192.1:c.*1235A>T, NM_001351187.1:c.*1235A>T, NM_001351187.2:c.*1235A>T, NM_001351174.1:c.*1235A>T, NM_001351191.1:c.*1235A>T, NM_001351186.1:c.*1235A>T, NM_001351186.2:c.*1235A>T, NM_001351175.1:c.*1235A>T, NM_001351175.2:c.*1235A>T, NM_001351182.1:c.*1235A>T, NM_001351182.2:c.*1235A>T, NM_001351185.1:c.*1235A>T, NM_001351185.2:c.*1235A>T, NM_001351184.1:c.*1235A>T, NM_001351184.2:c.*1235A>T, NM_001351178.1:c.*1235A>T, NM_001351178.2:c.*1235A>T, NM_001351188.1:c.*1235A>T, NM_001351188.2:c.*1235A>T, NM_001351172.1:c.*1235A>T, NM_001351172.2:c.*1235A>T, NM_001351197.1:c.*1235A>T, NM_001351197.2:c.*1235A>T, NM_001351169.1:c.*1235A>T, NM_001351169.2:c.*1235A>T, NM_001351196.1:c.*1235A>T, NM_001351196.2:c.*1235A>T, NM_001351171.1:c.*1235A>T, NM_001351171.2:c.*1235A>T, NM_001351180.1:c.*1235A>T, NM_001351180.2:c.*1235A>T, NM_001351195.1:c.*1235A>T, NM_001351195.2:c.*1235A>T, NM_001351177.1:c.*1235A>T, NM_001351177.2:c.*1235A>T, NM_001351170.1:c.*1235A>T, NM_001351170.2:c.*1235A>T, NM_001351176.1:c.*1235A>T, NM_001351176.2:c.*1235A>T, NM_001351194.1:c.*1235A>T, NM_001351194.2:c.*1235A>T, NM_001351183.1:c.*1235A>T, NM_001351183.2:c.*1235A>T, NM_001351181.1:c.*1235A>T, NM_001351181.2:c.*1235A>T, XM_005269637.6:c.*1235A>T, XM_005269637.5:c.*1235A>T, XM_005269637.4:c.*1235A>T, XM_005269637.3:c.*1235A>T, XM_005269637.2:c.*1235A>T, XM_005269637.1:c.*1235A>T, NM_017649.5:c.*11257T>A, NM_199076.3:c.*11257T>A, XM_017015947.3:c.*1235A>T, XM_017015947.2:c.*1235A>T, XM_017015947.1:c.*1235A>T, XM_024447901.2:c.*1235A>T, XM_024447901.1:c.*1235A>T, XM_024447902.2:c.*1235A>T, XM_024447902.1:c.*1235A>T, XM_011539537.2:c.*1235A>T, XM_011539537.1:c.*1235A>T, XM_024447903.2:c.*1235A>T, XM_024447903.1:c.*1235A>T, XM_047424857.1:c.*1235A>T, XM_047424851.1:c.*1235A>T, XM_047424844.1:c.*1235A>T, XM_047424849.1:c.*1235A>T, XM_047424847.1:c.*1235A>T, XM_047424845.1:c.*1235A>T, XM_047424848.1:c.*1235A>T, XM_047424846.1:c.*1235A>T, XM_047424850.1:c.*1235A>T, XM_047424855.1:c.*1235A>T, XM_047424853.1:c.*1235A>T, XM_047424856.1:c.*1235A>T, XM_047424852.1:c.*1235A>T, XM_047424854.1:c.*1235A>T, XM_047424858.1:c.*1235A>T, XM_047424859.1:c.*1235A>T

            6.

            rs1483617319 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              10:103088039 (GRCh38)
              10:104847796 (GRCh37)
              Canonical SPDI:
              NC_000010.11:103088038:C:A
              Gene:
              NT5C2 (Varview), CNNM2 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant
              HGVS:
              NC_000010.11:g.103088039C>A, NC_000010.10:g.104847796C>A, NG_042272.1:g.110268G>T, NM_012229.4:c.*1633G>T, NM_012229.5:c.*1633G>T, NM_001134373.2:c.*1633G>T, NM_001134373.3:c.*1633G>T, NM_001351179.1:c.*1633G>T, NM_001351179.2:c.*1633G>T, NM_001351189.1:c.*1633G>T, NM_001351189.2:c.*1633G>T, NM_001351190.1:c.*1633G>T, NM_001351190.2:c.*1633G>T, NM_001351173.1:c.*1633G>T, NM_001351173.2:c.*1633G>T, NM_001351193.1:c.*1633G>T, NM_001351192.1:c.*1633G>T, NM_001351187.1:c.*1633G>T, NM_001351187.2:c.*1633G>T, NM_001351174.1:c.*1633G>T, NM_001351191.1:c.*1633G>T, NM_001351186.1:c.*1633G>T, NM_001351186.2:c.*1633G>T, NM_001351175.1:c.*1633G>T, NM_001351175.2:c.*1633G>T, NM_001351182.1:c.*1633G>T, NM_001351182.2:c.*1633G>T, NM_001351185.1:c.*1633G>T, NM_001351185.2:c.*1633G>T, NM_001351184.1:c.*1633G>T, NM_001351184.2:c.*1633G>T, NM_001351178.1:c.*1633G>T, NM_001351178.2:c.*1633G>T, NM_001351188.1:c.*1633G>T, NM_001351188.2:c.*1633G>T, NM_001351172.1:c.*1633G>T, NM_001351172.2:c.*1633G>T, NM_001351197.1:c.*1633G>T, NM_001351197.2:c.*1633G>T, NM_001351169.1:c.*1633G>T, NM_001351169.2:c.*1633G>T, NM_001351196.1:c.*1633G>T, NM_001351196.2:c.*1633G>T, NM_001351171.1:c.*1633G>T, NM_001351171.2:c.*1633G>T, NM_001351180.1:c.*1633G>T, NM_001351180.2:c.*1633G>T, NM_001351195.1:c.*1633G>T, NM_001351195.2:c.*1633G>T, NM_001351177.1:c.*1633G>T, NM_001351177.2:c.*1633G>T, NM_001351170.1:c.*1633G>T, NM_001351170.2:c.*1633G>T, NM_001351176.1:c.*1633G>T, NM_001351176.2:c.*1633G>T, NM_001351194.1:c.*1633G>T, NM_001351194.2:c.*1633G>T, NM_001351183.1:c.*1633G>T, NM_001351183.2:c.*1633G>T, NM_001351181.1:c.*1633G>T, NM_001351181.2:c.*1633G>T, XM_005269637.6:c.*1633G>T, XM_005269637.4:c.*1633G>T, XM_005269637.3:c.*1633G>T, XM_005269637.1:c.*1633G>T, NM_017649.5:c.*10859C>A, NM_199076.3:c.*10859C>A, XM_017015947.3:c.*1633G>T, XM_017015947.1:c.*1633G>T, XM_024447901.2:c.*1633G>T, XM_024447902.2:c.*1633G>T, XM_011539537.2:c.*1633G>T, XM_011539537.1:c.*1633G>T, XM_024447903.2:c.*1633G>T, XM_047424857.1:c.*1633G>T, XM_047424851.1:c.*1633G>T, XM_047424844.1:c.*1633G>T, XM_047424849.1:c.*1633G>T, XM_047424847.1:c.*1633G>T, XM_047424845.1:c.*1633G>T, XM_047424848.1:c.*1633G>T, XM_047424846.1:c.*1633G>T, XM_047424850.1:c.*1633G>T, XM_047424855.1:c.*1633G>T, XM_047424853.1:c.*1633G>T, XM_047424856.1:c.*1633G>T, XM_047424852.1:c.*1633G>T, XM_047424854.1:c.*1633G>T, XM_047424858.1:c.*1633G>T, XM_047424859.1:c.*1633G>T

              7.

              rs1483467794 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                10:103088813 (GRCh38)
                10:104848570 (GRCh37)
                Canonical SPDI:
                NC_000010.11:103088812:A:T
                Gene:
                NT5C2 (Varview), CNNM2 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.103088813A>T, NC_000010.10:g.104848570A>T, NG_042272.1:g.109494T>A, NM_012229.4:c.*859T>A, NM_012229.5:c.*859T>A, NM_001134373.2:c.*859T>A, NM_001134373.3:c.*859T>A, NM_001351179.1:c.*859T>A, NM_001351179.2:c.*859T>A, NM_001351189.1:c.*859T>A, NM_001351189.2:c.*859T>A, NM_001351190.1:c.*859T>A, NM_001351190.2:c.*859T>A, NM_001351173.1:c.*859T>A, NM_001351173.2:c.*859T>A, NM_001351193.1:c.*859T>A, NM_001351192.1:c.*859T>A, NM_001351187.1:c.*859T>A, NM_001351187.2:c.*859T>A, NM_001351174.1:c.*859T>A, NM_001351191.1:c.*859T>A, NM_001351186.1:c.*859T>A, NM_001351186.2:c.*859T>A, NM_001351175.1:c.*859T>A, NM_001351175.2:c.*859T>A, NM_001351182.1:c.*859T>A, NM_001351182.2:c.*859T>A, NM_001351185.1:c.*859T>A, NM_001351185.2:c.*859T>A, NM_001351184.1:c.*859T>A, NM_001351184.2:c.*859T>A, NM_001351178.1:c.*859T>A, NM_001351178.2:c.*859T>A, NM_001351188.1:c.*859T>A, NM_001351188.2:c.*859T>A, NM_001351172.1:c.*859T>A, NM_001351172.2:c.*859T>A, NM_001351197.1:c.*859T>A, NM_001351197.2:c.*859T>A, NM_001351169.1:c.*859T>A, NM_001351169.2:c.*859T>A, NM_001351196.1:c.*859T>A, NM_001351196.2:c.*859T>A, NM_001351171.1:c.*859T>A, NM_001351171.2:c.*859T>A, NM_001351180.1:c.*859T>A, NM_001351180.2:c.*859T>A, NM_001351195.1:c.*859T>A, NM_001351195.2:c.*859T>A, NM_001351177.1:c.*859T>A, NM_001351177.2:c.*859T>A, NM_001351170.1:c.*859T>A, NM_001351170.2:c.*859T>A, NM_001351176.1:c.*859T>A, NM_001351176.2:c.*859T>A, NM_001351194.1:c.*859T>A, NM_001351194.2:c.*859T>A, NM_001351183.1:c.*859T>A, NM_001351183.2:c.*859T>A, NM_001351181.1:c.*859T>A, NM_001351181.2:c.*859T>A, XM_005269637.6:c.*859T>A, XM_005269637.5:c.*859T>A, XM_005269637.4:c.*859T>A, XM_005269637.3:c.*859T>A, XM_005269637.2:c.*859T>A, XM_005269637.1:c.*859T>A, NM_017649.5:c.*11633A>T, NM_199076.3:c.*11633A>T, XM_017015947.3:c.*859T>A, XM_017015947.2:c.*859T>A, XM_017015947.1:c.*859T>A, XM_024447901.2:c.*859T>A, XM_024447901.1:c.*859T>A, XM_024447902.2:c.*859T>A, XM_024447902.1:c.*859T>A, XM_011539537.2:c.*859T>A, XM_011539537.1:c.*859T>A, XM_024447903.2:c.*859T>A, XM_024447903.1:c.*859T>A, XM_047424857.1:c.*859T>A, XM_047424851.1:c.*859T>A, XM_047424844.1:c.*859T>A, XM_047424849.1:c.*859T>A, XM_047424847.1:c.*859T>A, XM_047424845.1:c.*859T>A, XM_047424848.1:c.*859T>A, XM_047424846.1:c.*859T>A, XM_047424850.1:c.*859T>A, XM_047424855.1:c.*859T>A, XM_047424853.1:c.*859T>A, XM_047424856.1:c.*859T>A, XM_047424852.1:c.*859T>A, XM_047424854.1:c.*859T>A, XM_047424858.1:c.*859T>A, XM_047424859.1:c.*859T>A

                8.

                rs1482416968 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  10:103088576 (GRCh38)
                  10:104848333 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:103088575:G:A,NC_000010.11:103088575:G:C
                  Gene:
                  NT5C2 (Varview), CNNM2 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000010.11:g.103088576G>A, NC_000010.11:g.103088576G>C, NC_000010.10:g.104848333G>A, NC_000010.10:g.104848333G>C, NG_042272.1:g.109731C>T, NG_042272.1:g.109731C>G, NM_012229.4:c.*1096C>T, NM_012229.4:c.*1096C>G, NM_012229.5:c.*1096C>T, NM_012229.5:c.*1096C>G, NM_001134373.2:c.*1096C>T, NM_001134373.2:c.*1096C>G, NM_001134373.3:c.*1096C>T, NM_001134373.3:c.*1096C>G, NM_001351179.1:c.*1096C>T, NM_001351179.1:c.*1096C>G, NM_001351179.2:c.*1096C>T, NM_001351179.2:c.*1096C>G, NM_001351189.1:c.*1096C>T, NM_001351189.1:c.*1096C>G, NM_001351189.2:c.*1096C>T, NM_001351189.2:c.*1096C>G, NM_001351190.1:c.*1096C>T, NM_001351190.1:c.*1096C>G, NM_001351190.2:c.*1096C>T, NM_001351190.2:c.*1096C>G, NM_001351173.1:c.*1096C>T, NM_001351173.1:c.*1096C>G, NM_001351173.2:c.*1096C>T, NM_001351173.2:c.*1096C>G, NM_001351193.1:c.*1096C>T, NM_001351193.1:c.*1096C>G, NM_001351192.1:c.*1096C>T, NM_001351192.1:c.*1096C>G, NM_001351187.1:c.*1096C>T, NM_001351187.1:c.*1096C>G, NM_001351187.2:c.*1096C>T, NM_001351187.2:c.*1096C>G, NM_001351174.1:c.*1096C>T, NM_001351174.1:c.*1096C>G, NM_001351191.1:c.*1096C>T, NM_001351191.1:c.*1096C>G, NM_001351186.1:c.*1096C>T, NM_001351186.1:c.*1096C>G, NM_001351186.2:c.*1096C>T, NM_001351186.2:c.*1096C>G, NM_001351175.1:c.*1096C>T, NM_001351175.1:c.*1096C>G, NM_001351175.2:c.*1096C>T, NM_001351175.2:c.*1096C>G, NM_001351182.1:c.*1096C>T, NM_001351182.1:c.*1096C>G, NM_001351182.2:c.*1096C>T, NM_001351182.2:c.*1096C>G, NM_001351185.1:c.*1096C>T, NM_001351185.1:c.*1096C>G, NM_001351185.2:c.*1096C>T, NM_001351185.2:c.*1096C>G, NM_001351184.1:c.*1096C>T, NM_001351184.1:c.*1096C>G, NM_001351184.2:c.*1096C>T, NM_001351184.2:c.*1096C>G, NM_001351178.1:c.*1096C>T, NM_001351178.1:c.*1096C>G, NM_001351178.2:c.*1096C>T, NM_001351178.2:c.*1096C>G, NM_001351188.1:c.*1096C>T, NM_001351188.1:c.*1096C>G, NM_001351188.2:c.*1096C>T, NM_001351188.2:c.*1096C>G, NM_001351172.1:c.*1096C>T, NM_001351172.1:c.*1096C>G, NM_001351172.2:c.*1096C>T, NM_001351172.2:c.*1096C>G, NM_001351197.1:c.*1096C>T, NM_001351197.1:c.*1096C>G, NM_001351197.2:c.*1096C>T, NM_001351197.2:c.*1096C>G, NM_001351169.1:c.*1096C>T, NM_001351169.1:c.*1096C>G, NM_001351169.2:c.*1096C>T, NM_001351169.2:c.*1096C>G, NM_001351196.1:c.*1096C>T, NM_001351196.1:c.*1096C>G, NM_001351196.2:c.*1096C>T, NM_001351196.2:c.*1096C>G, NM_001351171.1:c.*1096C>T, NM_001351171.1:c.*1096C>G, NM_001351171.2:c.*1096C>T, NM_001351171.2:c.*1096C>G, NM_001351180.1:c.*1096C>T, NM_001351180.1:c.*1096C>G, NM_001351180.2:c.*1096C>T, NM_001351180.2:c.*1096C>G, NM_001351195.1:c.*1096C>T, NM_001351195.1:c.*1096C>G, NM_001351195.2:c.*1096C>T, NM_001351195.2:c.*1096C>G, NM_001351177.1:c.*1096C>T, NM_001351177.1:c.*1096C>G, NM_001351177.2:c.*1096C>T, NM_001351177.2:c.*1096C>G, NM_001351170.1:c.*1096C>T, NM_001351170.1:c.*1096C>G, NM_001351170.2:c.*1096C>T, NM_001351170.2:c.*1096C>G, NM_001351176.1:c.*1096C>T, NM_001351176.1:c.*1096C>G, NM_001351176.2:c.*1096C>T, NM_001351176.2:c.*1096C>G, NM_001351194.1:c.*1096C>T, NM_001351194.1:c.*1096C>G, NM_001351194.2:c.*1096C>T, NM_001351194.2:c.*1096C>G, NM_001351183.1:c.*1096C>T, NM_001351183.1:c.*1096C>G, NM_001351183.2:c.*1096C>T, NM_001351183.2:c.*1096C>G, NM_001351181.1:c.*1096C>T, NM_001351181.1:c.*1096C>G, NM_001351181.2:c.*1096C>T, NM_001351181.2:c.*1096C>G, XM_005269637.6:c.*1096C>T, XM_005269637.6:c.*1096C>G, XM_005269637.5:c.*1096C>T, XM_005269637.5:c.*1096C>G, XM_005269637.4:c.*1096C>T, XM_005269637.4:c.*1096C>G, XM_005269637.3:c.*1096C>T, XM_005269637.3:c.*1096C>G, XM_005269637.2:c.*1096C>T, XM_005269637.2:c.*1096C>G, XM_005269637.1:c.*1096C>T, XM_005269637.1:c.*1096C>G, NM_017649.5:c.*11396G>A, NM_017649.5:c.*11396G>C, NM_199076.3:c.*11396G>A, NM_199076.3:c.*11396G>C, XM_017015947.3:c.*1096C>T, XM_017015947.3:c.*1096C>G, XM_017015947.2:c.*1096C>T, XM_017015947.2:c.*1096C>G, XM_017015947.1:c.*1096C>T, XM_017015947.1:c.*1096C>G, XM_024447901.2:c.*1096C>T, XM_024447901.2:c.*1096C>G, XM_024447901.1:c.*1096C>T, XM_024447901.1:c.*1096C>G, XM_024447902.2:c.*1096C>T, XM_024447902.2:c.*1096C>G, XM_024447902.1:c.*1096C>T, XM_024447902.1:c.*1096C>G, XM_011539537.2:c.*1096C>T, XM_011539537.2:c.*1096C>G, XM_011539537.1:c.*1096C>T, XM_011539537.1:c.*1096C>G, XM_024447903.2:c.*1096C>T, XM_024447903.2:c.*1096C>G, XM_024447903.1:c.*1096C>T, XM_024447903.1:c.*1096C>G, XM_047424857.1:c.*1096C>T, XM_047424857.1:c.*1096C>G, XM_047424851.1:c.*1096C>T, XM_047424851.1:c.*1096C>G, XM_047424844.1:c.*1096C>T, XM_047424844.1:c.*1096C>G, XM_047424849.1:c.*1096C>T, XM_047424849.1:c.*1096C>G, XM_047424847.1:c.*1096C>T, XM_047424847.1:c.*1096C>G, XM_047424845.1:c.*1096C>T, XM_047424845.1:c.*1096C>G, XM_047424848.1:c.*1096C>T, XM_047424848.1:c.*1096C>G, XM_047424846.1:c.*1096C>T, XM_047424846.1:c.*1096C>G, XM_047424850.1:c.*1096C>T, XM_047424850.1:c.*1096C>G, XM_047424855.1:c.*1096C>T, XM_047424855.1:c.*1096C>G, XM_047424853.1:c.*1096C>T, XM_047424853.1:c.*1096C>G, XM_047424856.1:c.*1096C>T, XM_047424856.1:c.*1096C>G, XM_047424852.1:c.*1096C>T, XM_047424852.1:c.*1096C>G, XM_047424854.1:c.*1096C>T, XM_047424854.1:c.*1096C>G, XM_047424858.1:c.*1096C>T, XM_047424858.1:c.*1096C>G, XM_047424859.1:c.*1096C>T, XM_047424859.1:c.*1096C>G

                  9.

                  rs1482022791 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->CAAAAC [Show Flanks]
                    Chromosome:
                    10:103089502 (GRCh38)
                    10:104849260 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:103089502:CAAAACCAAAAC:CAAAACCAAAACCAAAAC
                    Gene:
                    NT5C2 (Varview), CNNM2 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CAAAACCAAAACCAAAAC=0./0 (ALFA)
                    CAAAAC=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000010.11:g.103089503CAAAAC[3], NC_000010.10:g.104849260CAAAAC[3], NG_042272.1:g.108793GTTTTG[3], NM_012229.4:c.*158GTTTTG[3], NM_012229.5:c.*158GTTTTG[3], NM_001134373.2:c.*158GTTTTG[3], NM_001134373.3:c.*158GTTTTG[3], NM_001351179.1:c.*158GTTTTG[3], NM_001351179.2:c.*158GTTTTG[3], NM_001351189.1:c.*158GTTTTG[3], NM_001351189.2:c.*158GTTTTG[3], NM_001351190.1:c.*158GTTTTG[3], NM_001351190.2:c.*158GTTTTG[3], NM_001351173.1:c.*158GTTTTG[3], NM_001351173.2:c.*158GTTTTG[3], NM_001351193.1:c.*158GTTTTG[3], NM_001351192.1:c.*158GTTTTG[3], NM_001351187.1:c.*158GTTTTG[3], NM_001351187.2:c.*158GTTTTG[3], NM_001351174.1:c.*158GTTTTG[3], NM_001351191.1:c.*158GTTTTG[3], NM_001351186.1:c.*158GTTTTG[3], NM_001351186.2:c.*158GTTTTG[3], NM_001351175.1:c.*158GTTTTG[3], NM_001351175.2:c.*158GTTTTG[3], NM_001351182.1:c.*158GTTTTG[3], NM_001351182.2:c.*158GTTTTG[3], NM_001351185.1:c.*158GTTTTG[3], NM_001351185.2:c.*158GTTTTG[3], NM_001351184.1:c.*158GTTTTG[3], NM_001351184.2:c.*158GTTTTG[3], NM_001351178.1:c.*158GTTTTG[3], NM_001351178.2:c.*158GTTTTG[3], NM_001351188.1:c.*158GTTTTG[3], NM_001351188.2:c.*158GTTTTG[3], NM_001351172.1:c.*158GTTTTG[3], NM_001351172.2:c.*158GTTTTG[3], NM_001351197.1:c.*158GTTTTG[3], NM_001351197.2:c.*158GTTTTG[3], NM_001351169.1:c.*158GTTTTG[3], NM_001351169.2:c.*158GTTTTG[3], NM_001351196.1:c.*158GTTTTG[3], NM_001351196.2:c.*158GTTTTG[3], NM_001351171.1:c.*158GTTTTG[3], NM_001351171.2:c.*158GTTTTG[3], NM_001351180.1:c.*158GTTTTG[3], NM_001351180.2:c.*158GTTTTG[3], NM_001351195.1:c.*158GTTTTG[3], NM_001351195.2:c.*158GTTTTG[3], NM_001351177.1:c.*158GTTTTG[3], NM_001351177.2:c.*158GTTTTG[3], NM_001351170.1:c.*158GTTTTG[3], NM_001351170.2:c.*158GTTTTG[3], NM_001351176.1:c.*158GTTTTG[3], NM_001351176.2:c.*158GTTTTG[3], NM_001351194.1:c.*158GTTTTG[3], NM_001351194.2:c.*158GTTTTG[3], NM_001351183.1:c.*158GTTTTG[3], NM_001351183.2:c.*158GTTTTG[3], NM_001351181.1:c.*158GTTTTG[3], NM_001351181.2:c.*158GTTTTG[3], XM_005269637.6:c.*158GTTTTG[3], XM_005269637.5:c.*158GTTTTG[3], XM_005269637.4:c.*158GTTTTG[3], XM_005269637.3:c.*158GTTTTG[3], XM_005269637.2:c.*158GTTTTG[3], XM_005269637.1:c.*158GTTTTG[3], NM_017649.5:c.*12323CAAAAC[3], NM_199076.3:c.*12323CAAAAC[3], XM_017015947.3:c.*158GTTTTG[3], XM_017015947.2:c.*158GTTTTG[3], XM_017015947.1:c.*158GTTTTG[3], XM_024447901.2:c.*158GTTTTG[3], XM_024447901.1:c.*158GTTTTG[3], XM_024447902.2:c.*158GTTTTG[3], XM_024447902.1:c.*158GTTTTG[3], XM_011539537.2:c.*158GTTTTG[3], XM_011539537.1:c.*158GTTTTG[3], XM_024447903.2:c.*158GTTTTG[3], XM_024447903.1:c.*158GTTTTG[3], XM_047424857.1:c.*158GTTTTG[3], XM_047424851.1:c.*158GTTTTG[3], XM_047424844.1:c.*158GTTTTG[3], XM_047424849.1:c.*158GTTTTG[3], XM_047424847.1:c.*158GTTTTG[3], XM_047424845.1:c.*158GTTTTG[3], XM_047424848.1:c.*158GTTTTG[3], XM_047424846.1:c.*158GTTTTG[3], XM_047424850.1:c.*158GTTTTG[3], XM_047424855.1:c.*158GTTTTG[3], XM_047424853.1:c.*158GTTTTG[3], XM_047424856.1:c.*158GTTTTG[3], XM_047424852.1:c.*158GTTTTG[3], XM_047424854.1:c.*158GTTTTG[3], XM_047424858.1:c.*158GTTTTG[3], XM_047424859.1:c.*158GTTTTG[3]

                    10.

                    rs1481712581 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      10:103088034 (GRCh38)
                      10:104847791 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:103088033:A:G,NC_000010.11:103088033:A:T
                      Gene:
                      NT5C2 (Varview), CNNM2 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000010.11:g.103088034A>G, NC_000010.11:g.103088034A>T, NC_000010.10:g.104847791A>G, NC_000010.10:g.104847791A>T, NG_042272.1:g.110273T>C, NG_042272.1:g.110273T>A, NM_012229.4:c.*1638T>C, NM_012229.4:c.*1638T>A, NM_001134373.2:c.*1638T>C, NM_001134373.2:c.*1638T>A, NM_001351179.1:c.*1638T>C, NM_001351179.1:c.*1638T>A, NM_001351189.1:c.*1638T>C, NM_001351189.1:c.*1638T>A, NM_001351190.1:c.*1638T>C, NM_001351190.1:c.*1638T>A, NM_001351173.1:c.*1638T>C, NM_001351173.1:c.*1638T>A, NM_001351193.1:c.*1638T>C, NM_001351193.1:c.*1638T>A, NM_001351192.1:c.*1638T>C, NM_001351192.1:c.*1638T>A, NM_001351187.1:c.*1638T>C, NM_001351187.1:c.*1638T>A, NM_001351174.1:c.*1638T>C, NM_001351174.1:c.*1638T>A, NM_001351191.1:c.*1638T>C, NM_001351191.1:c.*1638T>A, NM_001351186.1:c.*1638T>C, NM_001351186.1:c.*1638T>A, NM_001351175.1:c.*1638T>C, NM_001351175.1:c.*1638T>A, NM_001351182.1:c.*1638T>C, NM_001351182.1:c.*1638T>A, NM_001351185.1:c.*1638T>C, NM_001351185.1:c.*1638T>A, NM_001351184.1:c.*1638T>C, NM_001351184.1:c.*1638T>A, NM_001351178.1:c.*1638T>C, NM_001351178.1:c.*1638T>A, NM_001351188.1:c.*1638T>C, NM_001351188.1:c.*1638T>A, NM_001351172.1:c.*1638T>C, NM_001351172.1:c.*1638T>A, NM_001351197.1:c.*1638T>C, NM_001351197.1:c.*1638T>A, NM_001351169.1:c.*1638T>C, NM_001351169.1:c.*1638T>A, NM_001351196.1:c.*1638T>C, NM_001351196.1:c.*1638T>A, NM_001351171.1:c.*1638T>C, NM_001351171.1:c.*1638T>A, NM_001351180.1:c.*1638T>C, NM_001351180.1:c.*1638T>A, NM_001351195.1:c.*1638T>C, NM_001351195.1:c.*1638T>A, NM_001351177.1:c.*1638T>C, NM_001351177.1:c.*1638T>A, NM_001351170.1:c.*1638T>C, NM_001351170.1:c.*1638T>A, NM_001351176.1:c.*1638T>C, NM_001351176.1:c.*1638T>A, NM_001351194.1:c.*1638T>C, NM_001351194.1:c.*1638T>A, NM_001351183.1:c.*1638T>C, NM_001351183.1:c.*1638T>A, NM_001351181.1:c.*1638T>C, NM_001351181.1:c.*1638T>A, XM_005269637.6:c.*1638T>C, XM_005269637.6:c.*1638T>A, XM_005269637.4:c.*1638T>C, XM_005269637.4:c.*1638T>A, NM_017649.5:c.*10854A>G, NM_017649.5:c.*10854A>T, NM_199076.3:c.*10854A>G, NM_199076.3:c.*10854A>T, XM_017015947.3:c.*1638T>C, XM_017015947.3:c.*1638T>A, XM_017015947.1:c.*1638T>C, XM_017015947.1:c.*1638T>A, XM_024447901.2:c.*1638T>C, XM_024447901.2:c.*1638T>A, XM_024447902.2:c.*1638T>C, XM_024447902.2:c.*1638T>A, XM_011539537.2:c.*1638T>C, XM_011539537.2:c.*1638T>A, XM_024447903.2:c.*1638T>C, XM_024447903.2:c.*1638T>A, XM_047424857.1:c.*1638T>C, XM_047424857.1:c.*1638T>A, XM_047424851.1:c.*1638T>C, XM_047424851.1:c.*1638T>A, XM_047424844.1:c.*1638T>C, XM_047424844.1:c.*1638T>A, XM_047424849.1:c.*1638T>C, XM_047424849.1:c.*1638T>A, XM_047424847.1:c.*1638T>C, XM_047424847.1:c.*1638T>A, XM_047424845.1:c.*1638T>C, XM_047424845.1:c.*1638T>A, XM_047424848.1:c.*1638T>C, XM_047424848.1:c.*1638T>A, XM_047424846.1:c.*1638T>C, XM_047424846.1:c.*1638T>A, XM_047424850.1:c.*1638T>C, XM_047424850.1:c.*1638T>A, XM_047424855.1:c.*1638T>C, XM_047424855.1:c.*1638T>A, XM_047424853.1:c.*1638T>C, XM_047424853.1:c.*1638T>A, XM_047424856.1:c.*1638T>C, XM_047424856.1:c.*1638T>A, XM_047424852.1:c.*1638T>C, XM_047424852.1:c.*1638T>A, XM_047424854.1:c.*1638T>C, XM_047424854.1:c.*1638T>A, XM_047424858.1:c.*1638T>C, XM_047424858.1:c.*1638T>A, XM_047424859.1:c.*1638T>C, XM_047424859.1:c.*1638T>A

                      11.

                      rs1475459121 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:103106664 (GRCh38)
                        10:104866421 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:103106663:G:A
                        Gene:
                        NT5C2 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        A=0.000318/5 (TOMMO)
                        HGVS:
                        NC_000010.11:g.103106664G>A, NC_000010.10:g.104866421G>A, NG_042272.1:g.91643C>T, NM_012229.4:c.218C>T, NM_012229.5:c.218C>T, NM_001134373.2:c.218C>T, NM_001134373.3:c.218C>T, NM_001351179.1:c.-548C>T, NM_001351179.2:c.-548C>T, NM_001351189.1:c.-548C>T, NM_001351189.2:c.-548C>T, NM_001351190.1:c.-441C>T, NM_001351190.2:c.-441C>T, NM_001351173.1:c.218C>T, NM_001351173.2:c.218C>T, NM_001351193.1:c.-380C>T, NM_001351192.1:c.-356C>T, NM_001351187.1:c.-593C>T, NM_001351187.2:c.-593C>T, NM_001351174.1:c.131C>T, NM_001351191.1:c.-264C>T, NM_001351186.1:c.-572C>T, NM_001351186.2:c.-572C>T, NM_001351175.1:c.125C>T, NM_001351175.2:c.125C>T, NM_001351182.1:c.-548C>T, NM_001351182.2:c.-548C>T, NM_001351185.1:c.-569C>T, NM_001351185.2:c.-569C>T, NM_001351184.1:c.-548C>T, NM_001351184.2:c.-548C>T, NM_001351178.1:c.-380C>T, NM_001351178.2:c.-380C>T, NM_001351188.1:c.-548C>T, NM_001351188.2:c.-548C>T, NM_001351172.1:c.218C>T, NM_001351172.2:c.218C>T, NM_001351197.1:c.-356C>T, NM_001351197.2:c.-356C>T, NM_001351169.1:c.218C>T, NM_001351169.2:c.218C>T, NM_001351196.1:c.-562C>T, NM_001351196.2:c.-562C>T, NM_001351171.1:c.218C>T, NM_001351171.2:c.218C>T, NM_001351180.1:c.-548C>T, NM_001351180.2:c.-548C>T, NM_001351195.1:c.-538C>T, NM_001351195.2:c.-538C>T, NM_001351177.1:c.-356C>T, NM_001351177.2:c.-356C>T, NM_001351170.1:c.218C>T, NM_001351170.2:c.218C>T, NM_001351176.1:c.-356C>T, NM_001351176.2:c.-356C>T, NM_001351194.1:c.-538C>T, NM_001351194.2:c.-538C>T, NM_001351183.1:c.-356C>T, NM_001351183.2:c.-356C>T, NM_001351181.1:c.-264C>T, NM_001351181.2:c.-264C>T, XM_005269637.6:c.131C>T, XM_005269637.5:c.131C>T, XM_005269637.4:c.131C>T, XM_005269637.3:c.131C>T, XM_005269637.2:c.131C>T, XM_005269637.1:c.131C>T, XM_017015947.3:c.125C>T, XM_017015947.2:c.125C>T, XM_017015947.1:c.125C>T, XM_024447901.2:c.218C>T, XM_024447901.1:c.218C>T, XM_024447902.2:c.218C>T, XM_024447902.1:c.218C>T, XM_011539537.2:c.218C>T, XM_011539537.1:c.218C>T, XM_024447903.2:c.110C>T, XM_024447903.1:c.110C>T, XM_047424857.1:c.-356C>T, XM_047424851.1:c.122C>T, XM_047424844.1:c.218C>T, XM_047424849.1:c.218C>T, XM_047424847.1:c.218C>T, XM_047424845.1:c.218C>T, XM_047424848.1:c.218C>T, XM_047424846.1:c.218C>T, XM_047424850.1:c.218C>T, XM_047424855.1:c.218C>T, XM_047424853.1:c.218C>T, XM_047424856.1:c.218C>T, XM_047424852.1:c.218C>T, XM_047424854.1:c.218C>T, NP_036361.1:p.Thr73Ile, NP_001127845.1:p.Thr73Ile, NP_001338102.1:p.Thr73Ile, NP_001338103.1:p.Thr44Ile, NP_001338104.1:p.Thr42Ile, NP_001338101.1:p.Thr73Ile, NP_001338098.1:p.Thr73Ile, NP_001338100.1:p.Thr73Ile, NP_001338099.1:p.Thr73Ile, XP_005269694.1:p.Thr44Ile, XP_016871436.1:p.Thr42Ile, XP_024303669.1:p.Thr73Ile, XP_024303670.1:p.Thr73Ile, XP_011537839.1:p.Thr73Ile, XP_024303671.1:p.Thr37Ile, XP_047280807.1:p.Thr41Ile, XP_047280800.1:p.Thr73Ile, XP_047280805.1:p.Thr73Ile, XP_047280803.1:p.Thr73Ile, XP_047280801.1:p.Thr73Ile, XP_047280804.1:p.Thr73Ile, XP_047280802.1:p.Thr73Ile, XP_047280806.1:p.Thr73Ile, XP_047280811.1:p.Thr73Ile, XP_047280809.1:p.Thr73Ile, XP_047280812.1:p.Thr73Ile, XP_047280808.1:p.Thr73Ile, XP_047280810.1:p.Thr73Ile

                        12.

                        rs1475074187 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TGGTTAAAGAAA>- [Show Flanks]
                          Chromosome:
                          10:103088242 (GRCh38)
                          10:104847999 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:103088239:AATGGTTAAAGAAA:AA
                          Gene:
                          NT5C2 (Varview), CNNM2 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AA=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000010.11:g.103088242_103088253del, NC_000010.10:g.104847999_104848010del, NG_042272.1:g.110056_110067del, NM_012229.4:c.*1421_*1432del, NM_012229.5:c.*1421_*1432del, NM_001134373.2:c.*1421_*1432del, NM_001134373.3:c.*1421_*1432del, NM_001351179.1:c.*1421_*1432del, NM_001351179.2:c.*1421_*1432del, NM_001351189.1:c.*1421_*1432del, NM_001351189.2:c.*1421_*1432del, NM_001351190.1:c.*1421_*1432del, NM_001351190.2:c.*1421_*1432del, NM_001351173.1:c.*1421_*1432del, NM_001351173.2:c.*1421_*1432del, NM_001351193.1:c.*1421_*1432del, NM_001351192.1:c.*1421_*1432del, NM_001351187.1:c.*1421_*1432del, NM_001351187.2:c.*1421_*1432del, NM_001351174.1:c.*1421_*1432del, NM_001351191.1:c.*1421_*1432del, NM_001351186.1:c.*1421_*1432del, NM_001351186.2:c.*1421_*1432del, NM_001351175.1:c.*1421_*1432del, NM_001351175.2:c.*1421_*1432del, NM_001351182.1:c.*1421_*1432del, NM_001351182.2:c.*1421_*1432del, NM_001351185.1:c.*1421_*1432del, NM_001351185.2:c.*1421_*1432del, NM_001351184.1:c.*1421_*1432del, NM_001351184.2:c.*1421_*1432del, NM_001351178.1:c.*1421_*1432del, NM_001351178.2:c.*1421_*1432del, NM_001351188.1:c.*1421_*1432del, NM_001351188.2:c.*1421_*1432del, NM_001351172.1:c.*1421_*1432del, NM_001351172.2:c.*1421_*1432del, NM_001351197.1:c.*1421_*1432del, NM_001351197.2:c.*1421_*1432del, NM_001351169.1:c.*1421_*1432del, NM_001351169.2:c.*1421_*1432del, NM_001351196.1:c.*1421_*1432del, NM_001351196.2:c.*1421_*1432del, NM_001351171.1:c.*1421_*1432del, NM_001351171.2:c.*1421_*1432del, NM_001351180.1:c.*1421_*1432del, NM_001351180.2:c.*1421_*1432del, NM_001351195.1:c.*1421_*1432del, NM_001351195.2:c.*1421_*1432del, NM_001351177.1:c.*1421_*1432del, NM_001351177.2:c.*1421_*1432del, NM_001351170.1:c.*1421_*1432del, NM_001351170.2:c.*1421_*1432del, NM_001351176.1:c.*1421_*1432del, NM_001351176.2:c.*1421_*1432del, NM_001351194.1:c.*1421_*1432del, NM_001351194.2:c.*1421_*1432del, NM_001351183.1:c.*1421_*1432del, NM_001351183.2:c.*1421_*1432del, NM_001351181.1:c.*1421_*1432del, NM_001351181.2:c.*1421_*1432del, XM_005269637.6:c.*1421_*1432del, XM_005269637.5:c.*1421_*1432del, XM_005269637.4:c.*1421_*1432del, XM_005269637.3:c.*1421_*1432del, XM_005269637.2:c.*1421_*1432del, XM_005269637.1:c.*1421_*1432del, NM_017649.5:c.*11062_*11073del, NM_199076.3:c.*11062_*11073del, XM_017015947.3:c.*1421_*1432del, XM_017015947.2:c.*1421_*1432del, XM_017015947.1:c.*1421_*1432del, XM_024447901.2:c.*1421_*1432del, XM_024447901.1:c.*1421_*1432del, XM_024447902.2:c.*1421_*1432del, XM_024447902.1:c.*1421_*1432del, XM_011539537.2:c.*1421_*1432del, XM_011539537.1:c.*1421_*1432del, XM_024447903.2:c.*1421_*1432del, XM_024447903.1:c.*1421_*1432del, XM_047424857.1:c.*1421_*1432del, XM_047424851.1:c.*1421_*1432del, XM_047424844.1:c.*1421_*1432del, XM_047424849.1:c.*1421_*1432del, XM_047424847.1:c.*1421_*1432del, XM_047424845.1:c.*1421_*1432del, XM_047424848.1:c.*1421_*1432del, XM_047424846.1:c.*1421_*1432del, XM_047424850.1:c.*1421_*1432del, XM_047424855.1:c.*1421_*1432del, XM_047424853.1:c.*1421_*1432del, XM_047424856.1:c.*1421_*1432del, XM_047424852.1:c.*1421_*1432del, XM_047424854.1:c.*1421_*1432del, XM_047424858.1:c.*1421_*1432del, XM_047424859.1:c.*1421_*1432del

                          13.

                          rs1473918831 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:103094446 (GRCh38)
                            10:104854203 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:103094445:A:G
                            Gene:
                            NT5C2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.103094446A>G, NC_000010.10:g.104854203A>G, NG_042272.1:g.103861T>C, NM_012229.4:c.823T>C, NM_012229.5:c.823T>C, NM_001134373.2:c.823T>C, NM_001134373.3:c.823T>C, NM_001351179.1:c.250T>C, NM_001351179.2:c.250T>C, NM_001351189.1:c.250T>C, NM_001351189.2:c.250T>C, NM_001351190.1:c.250T>C, NM_001351190.2:c.250T>C, NM_001351173.1:c.847T>C, NM_001351173.2:c.847T>C, NM_001351193.1:c.250T>C, NM_001351192.1:c.250T>C, NM_001351187.1:c.250T>C, NM_001351187.2:c.250T>C, NM_001351174.1:c.736T>C, NM_001351191.1:c.250T>C, NM_001351186.1:c.250T>C, NM_001351186.2:c.250T>C, NM_001351175.1:c.730T>C, NM_001351175.2:c.730T>C, NM_001351182.1:c.250T>C, NM_001351182.2:c.250T>C, NM_001351185.1:c.250T>C, NM_001351185.2:c.250T>C, NM_001351184.1:c.250T>C, NM_001351184.2:c.250T>C, NM_001351178.1:c.250T>C, NM_001351178.2:c.250T>C, NM_001351188.1:c.250T>C, NM_001351188.2:c.250T>C, NM_001351172.1:c.847T>C, NM_001351172.2:c.847T>C, NM_001351197.1:c.250T>C, NM_001351197.2:c.250T>C, NM_001351169.1:c.823T>C, NM_001351169.2:c.823T>C, NM_001351196.1:c.109T>C, NM_001351196.2:c.109T>C, NM_001351171.1:c.847T>C, NM_001351171.2:c.847T>C, NM_001351180.1:c.250T>C, NM_001351180.2:c.250T>C, NM_001351195.1:c.109T>C, NM_001351195.2:c.109T>C, NM_001351177.1:c.250T>C, NM_001351177.2:c.250T>C, NM_001351170.1:c.847T>C, NM_001351170.2:c.847T>C, NM_001351176.1:c.250T>C, NM_001351176.2:c.250T>C, NM_001351194.1:c.109T>C, NM_001351194.2:c.109T>C, NM_001351183.1:c.250T>C, NM_001351183.2:c.250T>C, NM_001351181.1:c.250T>C, NM_001351181.2:c.250T>C, XM_005269637.6:c.760T>C, XM_005269637.5:c.760T>C, XM_005269637.4:c.760T>C, XM_005269637.3:c.760T>C, XM_005269637.2:c.760T>C, XM_005269637.1:c.760T>C, XM_017015947.3:c.754T>C, XM_017015947.2:c.754T>C, XM_017015947.1:c.754T>C, XM_024447901.2:c.847T>C, XM_024447901.1:c.847T>C, XM_024447902.2:c.823T>C, XM_024447902.1:c.823T>C, XM_011539537.2:c.847T>C, XM_011539537.1:c.847T>C, XM_024447903.2:c.715T>C, XM_024447903.1:c.715T>C, XM_047424857.1:c.250T>C, XM_047424851.1:c.751T>C, XM_047424844.1:c.847T>C, XM_047424849.1:c.823T>C, XM_047424847.1:c.823T>C, XM_047424845.1:c.847T>C, XM_047424848.1:c.823T>C, XM_047424846.1:c.847T>C, XM_047424850.1:c.823T>C, XM_047424855.1:c.823T>C, XM_047424853.1:c.847T>C, XM_047424856.1:c.823T>C, XM_047424852.1:c.847T>C, XM_047424854.1:c.823T>C, XM_047424858.1:c.250T>C, XM_047424859.1:c.250T>C, NP_036361.1:p.Ser275Pro, NP_001127845.1:p.Ser275Pro, NP_001338108.1:p.Ser84Pro, NP_001338118.1:p.Ser84Pro, NP_001338119.1:p.Ser84Pro, NP_001338102.1:p.Ser283Pro, NP_001338122.1:p.Ser84Pro, NP_001338121.1:p.Ser84Pro, NP_001338116.1:p.Ser84Pro, NP_001338103.1:p.Ser246Pro, NP_001338120.1:p.Ser84Pro, NP_001338115.1:p.Ser84Pro, NP_001338104.1:p.Ser244Pro, NP_001338111.1:p.Ser84Pro, NP_001338114.1:p.Ser84Pro, NP_001338113.1:p.Ser84Pro, NP_001338107.1:p.Ser84Pro, NP_001338117.1:p.Ser84Pro, NP_001338101.1:p.Ser283Pro, NP_001338126.1:p.Ser84Pro, NP_001338098.1:p.Ser275Pro, NP_001338125.1:p.Ser37Pro, NP_001338100.1:p.Ser283Pro, NP_001338109.1:p.Ser84Pro, NP_001338124.1:p.Ser37Pro, NP_001338106.1:p.Ser84Pro, NP_001338099.1:p.Ser283Pro, NP_001338105.1:p.Ser84Pro, NP_001338123.1:p.Ser37Pro, NP_001338112.1:p.Ser84Pro, NP_001338110.1:p.Ser84Pro, XP_005269694.1:p.Ser254Pro, XP_016871436.1:p.Ser252Pro, XP_024303669.1:p.Ser283Pro, XP_024303670.1:p.Ser275Pro, XP_011537839.1:p.Ser283Pro, XP_024303671.1:p.Ser239Pro, XP_047280813.1:p.Ser84Pro, XP_047280807.1:p.Ser251Pro, XP_047280800.1:p.Ser283Pro, XP_047280805.1:p.Ser275Pro, XP_047280803.1:p.Ser275Pro, XP_047280801.1:p.Ser283Pro, XP_047280804.1:p.Ser275Pro, XP_047280802.1:p.Ser283Pro, XP_047280806.1:p.Ser275Pro, XP_047280811.1:p.Ser275Pro, XP_047280809.1:p.Ser283Pro, XP_047280812.1:p.Ser275Pro, XP_047280808.1:p.Ser283Pro, XP_047280810.1:p.Ser275Pro, XP_047280814.1:p.Ser84Pro, XP_047280815.1:p.Ser84Pro

                            14.

                            rs1473275691 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:103088879 (GRCh38)
                              10:104848636 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:103088878:T:C
                              Gene:
                              NT5C2 (Varview), CNNM2 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000010.11:g.103088879T>C, NC_000010.10:g.104848636T>C, NG_042272.1:g.109428A>G, NM_012229.4:c.*793A>G, NM_012229.5:c.*793A>G, NM_001134373.2:c.*793A>G, NM_001134373.3:c.*793A>G, NM_001351179.1:c.*793A>G, NM_001351179.2:c.*793A>G, NM_001351189.1:c.*793A>G, NM_001351189.2:c.*793A>G, NM_001351190.1:c.*793A>G, NM_001351190.2:c.*793A>G, NM_001351173.1:c.*793A>G, NM_001351173.2:c.*793A>G, NM_001351193.1:c.*793A>G, NM_001351192.1:c.*793A>G, NM_001351187.1:c.*793A>G, NM_001351187.2:c.*793A>G, NM_001351174.1:c.*793A>G, NM_001351191.1:c.*793A>G, NM_001351186.1:c.*793A>G, NM_001351186.2:c.*793A>G, NM_001351175.1:c.*793A>G, NM_001351175.2:c.*793A>G, NM_001351182.1:c.*793A>G, NM_001351182.2:c.*793A>G, NM_001351185.1:c.*793A>G, NM_001351185.2:c.*793A>G, NM_001351184.1:c.*793A>G, NM_001351184.2:c.*793A>G, NM_001351178.1:c.*793A>G, NM_001351178.2:c.*793A>G, NM_001351188.1:c.*793A>G, NM_001351188.2:c.*793A>G, NM_001351172.1:c.*793A>G, NM_001351172.2:c.*793A>G, NM_001351197.1:c.*793A>G, NM_001351197.2:c.*793A>G, NM_001351169.1:c.*793A>G, NM_001351169.2:c.*793A>G, NM_001351196.1:c.*793A>G, NM_001351196.2:c.*793A>G, NM_001351171.1:c.*793A>G, NM_001351171.2:c.*793A>G, NM_001351180.1:c.*793A>G, NM_001351180.2:c.*793A>G, NM_001351195.1:c.*793A>G, NM_001351195.2:c.*793A>G, NM_001351177.1:c.*793A>G, NM_001351177.2:c.*793A>G, NM_001351170.1:c.*793A>G, NM_001351170.2:c.*793A>G, NM_001351176.1:c.*793A>G, NM_001351176.2:c.*793A>G, NM_001351194.1:c.*793A>G, NM_001351194.2:c.*793A>G, NM_001351183.1:c.*793A>G, NM_001351183.2:c.*793A>G, NM_001351181.1:c.*793A>G, NM_001351181.2:c.*793A>G, XM_005269637.6:c.*793A>G, XM_005269637.5:c.*793A>G, XM_005269637.4:c.*793A>G, XM_005269637.3:c.*793A>G, XM_005269637.2:c.*793A>G, XM_005269637.1:c.*793A>G, NM_017649.5:c.*11699T>C, NM_199076.3:c.*11699T>C, XM_017015947.3:c.*793A>G, XM_017015947.2:c.*793A>G, XM_017015947.1:c.*793A>G, XM_024447901.2:c.*793A>G, XM_024447901.1:c.*793A>G, XM_024447902.2:c.*793A>G, XM_024447902.1:c.*793A>G, XM_011539537.2:c.*793A>G, XM_011539537.1:c.*793A>G, XM_024447903.2:c.*793A>G, XM_024447903.1:c.*793A>G, XM_047424857.1:c.*793A>G, XM_047424851.1:c.*793A>G, XM_047424844.1:c.*793A>G, XM_047424849.1:c.*793A>G, XM_047424847.1:c.*793A>G, XM_047424845.1:c.*793A>G, XM_047424848.1:c.*793A>G, XM_047424846.1:c.*793A>G, XM_047424850.1:c.*793A>G, XM_047424855.1:c.*793A>G, XM_047424853.1:c.*793A>G, XM_047424856.1:c.*793A>G, XM_047424852.1:c.*793A>G, XM_047424854.1:c.*793A>G, XM_047424858.1:c.*793A>G, XM_047424859.1:c.*793A>G

                              15.

                              rs1472975715 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                10:103089288 (GRCh38)
                                10:104849045 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:103089287:G:A,NC_000010.11:103089287:G:T
                                Gene:
                                NT5C2 (Varview), CNNM2 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.103089288G>A, NC_000010.11:g.103089288G>T, NC_000010.10:g.104849045G>A, NC_000010.10:g.104849045G>T, NG_042272.1:g.109019C>T, NG_042272.1:g.109019C>A, NM_012229.4:c.*384C>T, NM_012229.4:c.*384C>A, NM_012229.5:c.*384C>T, NM_012229.5:c.*384C>A, NM_001134373.2:c.*384C>T, NM_001134373.2:c.*384C>A, NM_001134373.3:c.*384C>T, NM_001134373.3:c.*384C>A, NM_001351179.1:c.*384C>T, NM_001351179.1:c.*384C>A, NM_001351179.2:c.*384C>T, NM_001351179.2:c.*384C>A, NM_001351189.1:c.*384C>T, NM_001351189.1:c.*384C>A, NM_001351189.2:c.*384C>T, NM_001351189.2:c.*384C>A, NM_001351190.1:c.*384C>T, NM_001351190.1:c.*384C>A, NM_001351190.2:c.*384C>T, NM_001351190.2:c.*384C>A, NM_001351173.1:c.*384C>T, NM_001351173.1:c.*384C>A, NM_001351173.2:c.*384C>T, NM_001351173.2:c.*384C>A, NM_001351193.1:c.*384C>T, NM_001351193.1:c.*384C>A, NM_001351192.1:c.*384C>T, NM_001351192.1:c.*384C>A, NM_001351187.1:c.*384C>T, NM_001351187.1:c.*384C>A, NM_001351187.2:c.*384C>T, NM_001351187.2:c.*384C>A, NM_001351174.1:c.*384C>T, NM_001351174.1:c.*384C>A, NM_001351191.1:c.*384C>T, NM_001351191.1:c.*384C>A, NM_001351186.1:c.*384C>T, NM_001351186.1:c.*384C>A, NM_001351186.2:c.*384C>T, NM_001351186.2:c.*384C>A, NM_001351175.1:c.*384C>T, NM_001351175.1:c.*384C>A, NM_001351175.2:c.*384C>T, NM_001351175.2:c.*384C>A, NM_001351182.1:c.*384C>T, NM_001351182.1:c.*384C>A, NM_001351182.2:c.*384C>T, NM_001351182.2:c.*384C>A, NM_001351185.1:c.*384C>T, NM_001351185.1:c.*384C>A, NM_001351185.2:c.*384C>T, NM_001351185.2:c.*384C>A, NM_001351184.1:c.*384C>T, NM_001351184.1:c.*384C>A, NM_001351184.2:c.*384C>T, NM_001351184.2:c.*384C>A, NM_001351178.1:c.*384C>T, NM_001351178.1:c.*384C>A, NM_001351178.2:c.*384C>T, NM_001351178.2:c.*384C>A, NM_001351188.1:c.*384C>T, NM_001351188.1:c.*384C>A, NM_001351188.2:c.*384C>T, NM_001351188.2:c.*384C>A, NM_001351172.1:c.*384C>T, NM_001351172.1:c.*384C>A, NM_001351172.2:c.*384C>T, NM_001351172.2:c.*384C>A, NM_001351197.1:c.*384C>T, NM_001351197.1:c.*384C>A, NM_001351197.2:c.*384C>T, NM_001351197.2:c.*384C>A, NM_001351169.1:c.*384C>T, NM_001351169.1:c.*384C>A, NM_001351169.2:c.*384C>T, NM_001351169.2:c.*384C>A, NM_001351196.1:c.*384C>T, NM_001351196.1:c.*384C>A, NM_001351196.2:c.*384C>T, NM_001351196.2:c.*384C>A, NM_001351171.1:c.*384C>T, NM_001351171.1:c.*384C>A, NM_001351171.2:c.*384C>T, NM_001351171.2:c.*384C>A, NM_001351180.1:c.*384C>T, NM_001351180.1:c.*384C>A, NM_001351180.2:c.*384C>T, NM_001351180.2:c.*384C>A, NM_001351195.1:c.*384C>T, NM_001351195.1:c.*384C>A, NM_001351195.2:c.*384C>T, NM_001351195.2:c.*384C>A, NM_001351177.1:c.*384C>T, NM_001351177.1:c.*384C>A, NM_001351177.2:c.*384C>T, NM_001351177.2:c.*384C>A, NM_001351170.1:c.*384C>T, NM_001351170.1:c.*384C>A, NM_001351170.2:c.*384C>T, NM_001351170.2:c.*384C>A, NM_001351176.1:c.*384C>T, NM_001351176.1:c.*384C>A, NM_001351176.2:c.*384C>T, NM_001351176.2:c.*384C>A, NM_001351194.1:c.*384C>T, NM_001351194.1:c.*384C>A, NM_001351194.2:c.*384C>T, NM_001351194.2:c.*384C>A, NM_001351183.1:c.*384C>T, NM_001351183.1:c.*384C>A, NM_001351183.2:c.*384C>T, NM_001351183.2:c.*384C>A, NM_001351181.1:c.*384C>T, NM_001351181.1:c.*384C>A, NM_001351181.2:c.*384C>T, NM_001351181.2:c.*384C>A, XM_005269637.6:c.*384C>T, XM_005269637.6:c.*384C>A, XM_005269637.5:c.*384C>T, XM_005269637.5:c.*384C>A, XM_005269637.4:c.*384C>T, XM_005269637.4:c.*384C>A, XM_005269637.3:c.*384C>T, XM_005269637.3:c.*384C>A, XM_005269637.2:c.*384C>T, XM_005269637.2:c.*384C>A, XM_005269637.1:c.*384C>T, XM_005269637.1:c.*384C>A, NM_017649.5:c.*12108G>A, NM_017649.5:c.*12108G>T, NM_199076.3:c.*12108G>A, NM_199076.3:c.*12108G>T, XM_017015947.3:c.*384C>T, XM_017015947.3:c.*384C>A, XM_017015947.2:c.*384C>T, XM_017015947.2:c.*384C>A, XM_017015947.1:c.*384C>T, XM_017015947.1:c.*384C>A, XM_024447901.2:c.*384C>T, XM_024447901.2:c.*384C>A, XM_024447901.1:c.*384C>T, XM_024447901.1:c.*384C>A, XM_024447902.2:c.*384C>T, XM_024447902.2:c.*384C>A, XM_024447902.1:c.*384C>T, XM_024447902.1:c.*384C>A, XM_011539537.2:c.*384C>T, XM_011539537.2:c.*384C>A, XM_011539537.1:c.*384C>T, XM_011539537.1:c.*384C>A, XM_024447903.2:c.*384C>T, XM_024447903.2:c.*384C>A, XM_024447903.1:c.*384C>T, XM_024447903.1:c.*384C>A, XM_047424857.1:c.*384C>T, XM_047424857.1:c.*384C>A, XM_047424851.1:c.*384C>T, XM_047424851.1:c.*384C>A, XM_047424844.1:c.*384C>T, XM_047424844.1:c.*384C>A, XM_047424849.1:c.*384C>T, XM_047424849.1:c.*384C>A, XM_047424847.1:c.*384C>T, XM_047424847.1:c.*384C>A, XM_047424845.1:c.*384C>T, XM_047424845.1:c.*384C>A, XM_047424848.1:c.*384C>T, XM_047424848.1:c.*384C>A, XM_047424846.1:c.*384C>T, XM_047424846.1:c.*384C>A, XM_047424850.1:c.*384C>T, XM_047424850.1:c.*384C>A, XM_047424855.1:c.*384C>T, XM_047424855.1:c.*384C>A, XM_047424853.1:c.*384C>T, XM_047424853.1:c.*384C>A, XM_047424856.1:c.*384C>T, XM_047424856.1:c.*384C>A, XM_047424852.1:c.*384C>T, XM_047424852.1:c.*384C>A, XM_047424854.1:c.*384C>T, XM_047424854.1:c.*384C>A, XM_047424858.1:c.*384C>T, XM_047424858.1:c.*384C>A, XM_047424859.1:c.*384C>T, XM_047424859.1:c.*384C>A

                                16.

                                rs1472399088 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:103139425 (GRCh38)
                                  10:104899182 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:103139424:A:G
                                  Gene:
                                  NT5C2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.103139425A>G, NC_000010.10:g.104899182A>G, NG_042272.1:g.58882T>C, NM_012229.4:c.156T>C, NM_012229.5:c.156T>C, NM_001134373.2:c.156T>C, NM_001134373.3:c.156T>C, NM_001351179.1:c.-671T>C, NM_001351179.2:c.-671T>C, NM_001351189.1:c.-610T>C, NM_001351189.2:c.-610T>C, NM_001351190.1:c.-503T>C, NM_001351190.2:c.-503T>C, NM_001351173.1:c.156T>C, NM_001351173.2:c.156T>C, NM_001351193.1:c.-503T>C, NM_001351192.1:c.-479T>C, NM_001351187.1:c.-716T>C, NM_001351187.2:c.-716T>C, NM_001351174.1:c.69T>C, NM_001351191.1:c.-387T>C, NM_001351186.1:c.-695T>C, NM_001351186.2:c.-695T>C, NM_001351175.1:c.-62T>C, NM_001351175.2:c.-62T>C, NM_001351182.1:c.-671T>C, NM_001351182.2:c.-671T>C, NM_001351185.1:c.-631T>C, NM_001351185.2:c.-631T>C, NM_001351184.1:c.-610T>C, NM_001351184.2:c.-610T>C, NM_001351178.1:c.-503T>C, NM_001351178.2:c.-503T>C, NM_001351172.1:c.156T>C, NM_001351172.2:c.156T>C, NM_001351197.1:c.-479T>C, NM_001351197.2:c.-479T>C, NM_001351169.1:c.156T>C, NM_001351169.2:c.156T>C, NM_001351196.1:c.-685T>C, NM_001351196.2:c.-685T>C, NM_001351171.1:c.156T>C, NM_001351171.2:c.156T>C, NM_001351195.1:c.-661T>C, NM_001351195.2:c.-661T>C, NM_001351177.1:c.-479T>C, NM_001351177.2:c.-479T>C, NM_001351170.1:c.156T>C, NM_001351170.2:c.156T>C, XM_005269637.6:c.69T>C, XM_005269637.5:c.69T>C, XM_005269637.4:c.69T>C, XM_005269637.3:c.69T>C, XM_005269637.2:c.69T>C, XM_005269637.1:c.69T>C, XM_024447901.2:c.156T>C, XM_024447901.1:c.156T>C, XM_024447902.2:c.156T>C, XM_024447902.1:c.156T>C, XM_011539537.2:c.156T>C, XM_011539537.1:c.156T>C, XM_047424857.1:c.-479T>C, XM_047424851.1:c.60T>C, XM_047424844.1:c.156T>C, XM_047424849.1:c.156T>C, XM_047424847.1:c.156T>C, XM_047424845.1:c.156T>C, XM_047424848.1:c.156T>C, XM_047424846.1:c.156T>C, XM_047424850.1:c.156T>C, XM_047424855.1:c.156T>C, XM_047424853.1:c.156T>C, XM_047424856.1:c.156T>C, XM_047424852.1:c.156T>C, XM_047424854.1:c.156T>C, XM_047424858.1:c.-300T>C

                                  17.

                                  rs1472317872 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:103089278 (GRCh38)
                                    10:104849035 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:103089277:A:G
                                    Gene:
                                    NT5C2 (Varview), CNNM2 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000010.11:g.103089278A>G, NC_000010.10:g.104849035A>G, NG_042272.1:g.109029T>C, NM_012229.4:c.*394T>C, NM_012229.5:c.*394T>C, NM_001134373.2:c.*394T>C, NM_001134373.3:c.*394T>C, NM_001351179.1:c.*394T>C, NM_001351179.2:c.*394T>C, NM_001351189.1:c.*394T>C, NM_001351189.2:c.*394T>C, NM_001351190.1:c.*394T>C, NM_001351190.2:c.*394T>C, NM_001351173.1:c.*394T>C, NM_001351173.2:c.*394T>C, NM_001351193.1:c.*394T>C, NM_001351192.1:c.*394T>C, NM_001351187.1:c.*394T>C, NM_001351187.2:c.*394T>C, NM_001351174.1:c.*394T>C, NM_001351191.1:c.*394T>C, NM_001351186.1:c.*394T>C, NM_001351186.2:c.*394T>C, NM_001351175.1:c.*394T>C, NM_001351175.2:c.*394T>C, NM_001351182.1:c.*394T>C, NM_001351182.2:c.*394T>C, NM_001351185.1:c.*394T>C, NM_001351185.2:c.*394T>C, NM_001351184.1:c.*394T>C, NM_001351184.2:c.*394T>C, NM_001351178.1:c.*394T>C, NM_001351178.2:c.*394T>C, NM_001351188.1:c.*394T>C, NM_001351188.2:c.*394T>C, NM_001351172.1:c.*394T>C, NM_001351172.2:c.*394T>C, NM_001351197.1:c.*394T>C, NM_001351197.2:c.*394T>C, NM_001351169.1:c.*394T>C, NM_001351169.2:c.*394T>C, NM_001351196.1:c.*394T>C, NM_001351196.2:c.*394T>C, NM_001351171.1:c.*394T>C, NM_001351171.2:c.*394T>C, NM_001351180.1:c.*394T>C, NM_001351180.2:c.*394T>C, NM_001351195.1:c.*394T>C, NM_001351195.2:c.*394T>C, NM_001351177.1:c.*394T>C, NM_001351177.2:c.*394T>C, NM_001351170.1:c.*394T>C, NM_001351170.2:c.*394T>C, NM_001351176.1:c.*394T>C, NM_001351176.2:c.*394T>C, NM_001351194.1:c.*394T>C, NM_001351194.2:c.*394T>C, NM_001351183.1:c.*394T>C, NM_001351183.2:c.*394T>C, NM_001351181.1:c.*394T>C, NM_001351181.2:c.*394T>C, XM_005269637.6:c.*394T>C, XM_005269637.5:c.*394T>C, XM_005269637.4:c.*394T>C, XM_005269637.3:c.*394T>C, XM_005269637.2:c.*394T>C, XM_005269637.1:c.*394T>C, NM_017649.5:c.*12098A>G, NM_199076.3:c.*12098A>G, XM_017015947.3:c.*394T>C, XM_017015947.2:c.*394T>C, XM_017015947.1:c.*394T>C, XM_024447901.2:c.*394T>C, XM_024447901.1:c.*394T>C, XM_024447902.2:c.*394T>C, XM_024447902.1:c.*394T>C, XM_011539537.2:c.*394T>C, XM_011539537.1:c.*394T>C, XM_024447903.2:c.*394T>C, XM_024447903.1:c.*394T>C, XM_047424857.1:c.*394T>C, XM_047424851.1:c.*394T>C, XM_047424844.1:c.*394T>C, XM_047424849.1:c.*394T>C, XM_047424847.1:c.*394T>C, XM_047424845.1:c.*394T>C, XM_047424848.1:c.*394T>C, XM_047424846.1:c.*394T>C, XM_047424850.1:c.*394T>C, XM_047424855.1:c.*394T>C, XM_047424853.1:c.*394T>C, XM_047424856.1:c.*394T>C, XM_047424852.1:c.*394T>C, XM_047424854.1:c.*394T>C, XM_047424858.1:c.*394T>C, XM_047424859.1:c.*394T>C

                                    18.

                                    rs1471338538 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      10:103089671 (GRCh38)
                                      10:104849428 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:103089670:C:T
                                      Gene:
                                      NT5C2 (Varview), CNNM2 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.103089671C>T, NC_000010.10:g.104849428C>T, NG_042272.1:g.108636G>A, NM_012229.4:c.*1G>A, NM_012229.5:c.*1G>A, NM_001134373.2:c.*1G>A, NM_001134373.3:c.*1G>A, NM_001351179.1:c.*1G>A, NM_001351179.2:c.*1G>A, NM_001351189.1:c.*1G>A, NM_001351189.2:c.*1G>A, NM_001351190.1:c.*1G>A, NM_001351190.2:c.*1G>A, NM_001351173.1:c.*1G>A, NM_001351173.2:c.*1G>A, NM_001351193.1:c.*1G>A, NM_001351192.1:c.*1G>A, NM_001351187.1:c.*1G>A, NM_001351187.2:c.*1G>A, NM_001351174.1:c.*1G>A, NM_001351191.1:c.*1G>A, NM_001351186.1:c.*1G>A, NM_001351186.2:c.*1G>A, NM_001351175.1:c.*1G>A, NM_001351175.2:c.*1G>A, NM_001351182.1:c.*1G>A, NM_001351182.2:c.*1G>A, NM_001351185.1:c.*1G>A, NM_001351185.2:c.*1G>A, NM_001351184.1:c.*1G>A, NM_001351184.2:c.*1G>A, NM_001351178.1:c.*1G>A, NM_001351178.2:c.*1G>A, NM_001351188.1:c.*1G>A, NM_001351188.2:c.*1G>A, NM_001351172.1:c.*1G>A, NM_001351172.2:c.*1G>A, NM_001351197.1:c.*1G>A, NM_001351197.2:c.*1G>A, NM_001351169.1:c.*1G>A, NM_001351169.2:c.*1G>A, NM_001351196.1:c.*1G>A, NM_001351196.2:c.*1G>A, NM_001351171.1:c.*1G>A, NM_001351171.2:c.*1G>A, NM_001351180.1:c.*1G>A, NM_001351180.2:c.*1G>A, NM_001351195.1:c.*1G>A, NM_001351195.2:c.*1G>A, NM_001351177.1:c.*1G>A, NM_001351177.2:c.*1G>A, NM_001351170.1:c.*1G>A, NM_001351170.2:c.*1G>A, NM_001351176.1:c.*1G>A, NM_001351176.2:c.*1G>A, NM_001351194.1:c.*1G>A, NM_001351194.2:c.*1G>A, NM_001351183.1:c.*1G>A, NM_001351183.2:c.*1G>A, NM_001351181.1:c.*1G>A, NM_001351181.2:c.*1G>A, XM_005269637.6:c.*1G>A, XM_005269637.5:c.*1G>A, XM_005269637.4:c.*1G>A, XM_005269637.3:c.*1G>A, XM_005269637.2:c.*1G>A, XM_005269637.1:c.*1G>A, NM_017649.5:c.*12491C>T, NM_199076.3:c.*12491C>T, XM_017015947.3:c.*1G>A, XM_017015947.2:c.*1G>A, XM_017015947.1:c.*1G>A, XM_024447901.2:c.*1G>A, XM_024447901.1:c.*1G>A, XM_024447902.2:c.*1G>A, XM_024447902.1:c.*1G>A, XM_011539537.2:c.*1G>A, XM_011539537.1:c.*1G>A, XM_024447903.2:c.*1G>A, XM_024447903.1:c.*1G>A, XM_047424857.1:c.*1G>A, XM_047424851.1:c.*1G>A, XM_047424844.1:c.*1G>A, XM_047424849.1:c.*1G>A, XM_047424847.1:c.*1G>A, XM_047424845.1:c.*1G>A, XM_047424848.1:c.*1G>A, XM_047424846.1:c.*1G>A, XM_047424850.1:c.*1G>A, XM_047424855.1:c.*1G>A, XM_047424853.1:c.*1G>A, XM_047424856.1:c.*1G>A, XM_047424852.1:c.*1G>A, XM_047424854.1:c.*1G>A, XM_047424858.1:c.*1G>A, XM_047424859.1:c.*1G>A

                                      19.

                                      rs1470832754 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:103106684 (GRCh38)
                                        10:104866441 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:103106683:C:T
                                        Gene:
                                        NT5C2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.103106684C>T, NC_000010.10:g.104866441C>T, NG_042272.1:g.91623G>A, NM_012229.4:c.198G>A, NM_012229.5:c.198G>A, NM_001134373.2:c.198G>A, NM_001134373.3:c.198G>A, NM_001351179.1:c.-568G>A, NM_001351179.2:c.-568G>A, NM_001351189.1:c.-568G>A, NM_001351189.2:c.-568G>A, NM_001351190.1:c.-461G>A, NM_001351190.2:c.-461G>A, NM_001351173.1:c.198G>A, NM_001351173.2:c.198G>A, NM_001351193.1:c.-400G>A, NM_001351192.1:c.-376G>A, NM_001351187.1:c.-613G>A, NM_001351187.2:c.-613G>A, NM_001351174.1:c.111G>A, NM_001351191.1:c.-284G>A, NM_001351186.1:c.-592G>A, NM_001351186.2:c.-592G>A, NM_001351175.1:c.105G>A, NM_001351175.2:c.105G>A, NM_001351182.1:c.-568G>A, NM_001351182.2:c.-568G>A, NM_001351185.1:c.-589G>A, NM_001351185.2:c.-589G>A, NM_001351184.1:c.-568G>A, NM_001351184.2:c.-568G>A, NM_001351178.1:c.-400G>A, NM_001351178.2:c.-400G>A, NM_001351188.1:c.-568G>A, NM_001351188.2:c.-568G>A, NM_001351172.1:c.198G>A, NM_001351172.2:c.198G>A, NM_001351197.1:c.-376G>A, NM_001351197.2:c.-376G>A, NM_001351169.1:c.198G>A, NM_001351169.2:c.198G>A, NM_001351196.1:c.-582G>A, NM_001351196.2:c.-582G>A, NM_001351171.1:c.198G>A, NM_001351171.2:c.198G>A, NM_001351180.1:c.-568G>A, NM_001351180.2:c.-568G>A, NM_001351195.1:c.-558G>A, NM_001351195.2:c.-558G>A, NM_001351177.1:c.-376G>A, NM_001351177.2:c.-376G>A, NM_001351170.1:c.198G>A, NM_001351170.2:c.198G>A, NM_001351176.1:c.-376G>A, NM_001351176.2:c.-376G>A, NM_001351194.1:c.-558G>A, NM_001351194.2:c.-558G>A, NM_001351183.1:c.-376G>A, NM_001351183.2:c.-376G>A, NM_001351181.1:c.-284G>A, NM_001351181.2:c.-284G>A, XM_005269637.6:c.111G>A, XM_005269637.5:c.111G>A, XM_005269637.4:c.111G>A, XM_005269637.3:c.111G>A, XM_005269637.2:c.111G>A, XM_005269637.1:c.111G>A, XM_017015947.3:c.105G>A, XM_017015947.2:c.105G>A, XM_017015947.1:c.105G>A, XM_024447901.2:c.198G>A, XM_024447901.1:c.198G>A, XM_024447902.2:c.198G>A, XM_024447902.1:c.198G>A, XM_011539537.2:c.198G>A, XM_011539537.1:c.198G>A, XM_024447903.2:c.90G>A, XM_024447903.1:c.90G>A, XM_047424857.1:c.-376G>A, XM_047424851.1:c.102G>A, XM_047424844.1:c.198G>A, XM_047424849.1:c.198G>A, XM_047424847.1:c.198G>A, XM_047424845.1:c.198G>A, XM_047424848.1:c.198G>A, XM_047424846.1:c.198G>A, XM_047424850.1:c.198G>A, XM_047424855.1:c.198G>A, XM_047424853.1:c.198G>A, XM_047424856.1:c.198G>A, XM_047424852.1:c.198G>A, XM_047424854.1:c.198G>A

                                        20.

                                        rs1469543084 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->GTTA [Show Flanks]
                                          Chromosome:
                                          10:103090778 (GRCh38)
                                          10:104850536 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:103090778:AGTTA:AGTTAGTTA
                                          Gene:
                                          NT5C2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          AGTT=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.103090780_103090783dup, NC_000010.10:g.104850537_104850540dup, NG_042272.1:g.107525_107528dup, NM_012229.4:c.1278_1281dup, NM_012229.5:c.1278_1281dup, NM_001134373.2:c.1278_1281dup, NM_001134373.3:c.1278_1281dup, NM_001351179.1:c.705_708dup, NM_001351179.2:c.705_708dup, NM_001351189.1:c.705_708dup, NM_001351189.2:c.705_708dup, NM_001351190.1:c.705_708dup, NM_001351190.2:c.705_708dup, NM_001351173.1:c.1302_1305dup, NM_001351173.2:c.1302_1305dup, NM_001351193.1:c.705_708dup, NM_001351192.1:c.705_708dup, NM_001351187.1:c.705_708dup, NM_001351187.2:c.705_708dup, NM_001351174.1:c.1191_1194dup, NM_001351191.1:c.705_708dup, NM_001351186.1:c.705_708dup, NM_001351186.2:c.705_708dup, NM_001351175.1:c.1185_1188dup, NM_001351175.2:c.1185_1188dup, NM_001351182.1:c.705_708dup, NM_001351182.2:c.705_708dup, NM_001351185.1:c.705_708dup, NM_001351185.2:c.705_708dup, NM_001351184.1:c.705_708dup, NM_001351184.2:c.705_708dup, NM_001351178.1:c.705_708dup, NM_001351178.2:c.705_708dup, NM_001351188.1:c.705_708dup, NM_001351188.2:c.705_708dup, NM_001351172.1:c.1302_1305dup, NM_001351172.2:c.1302_1305dup, NM_001351197.1:c.705_708dup, NM_001351197.2:c.705_708dup, NM_001351169.1:c.1278_1281dup, NM_001351169.2:c.1278_1281dup, NM_001351196.1:c.564_567dup, NM_001351196.2:c.564_567dup, NM_001351171.1:c.1302_1305dup, NM_001351171.2:c.1302_1305dup, NM_001351180.1:c.705_708dup, NM_001351180.2:c.705_708dup, NM_001351195.1:c.564_567dup, NM_001351195.2:c.564_567dup, NM_001351177.1:c.705_708dup, NM_001351177.2:c.705_708dup, NM_001351170.1:c.1302_1305dup, NM_001351170.2:c.1302_1305dup, NM_001351176.1:c.705_708dup, NM_001351176.2:c.705_708dup, NM_001351194.1:c.564_567dup, NM_001351194.2:c.564_567dup, NM_001351183.1:c.705_708dup, NM_001351183.2:c.705_708dup, NM_001351181.1:c.705_708dup, NM_001351181.2:c.705_708dup, XM_005269637.6:c.1215_1218dup, XM_005269637.5:c.1215_1218dup, XM_005269637.4:c.1215_1218dup, XM_005269637.3:c.1215_1218dup, XM_005269637.2:c.1215_1218dup, XM_005269637.1:c.1215_1218dup, XM_017015947.3:c.1209_1212dup, XM_017015947.2:c.1209_1212dup, XM_017015947.1:c.1209_1212dup, XM_024447901.2:c.1302_1305dup, XM_024447901.1:c.1302_1305dup, XM_024447902.2:c.1278_1281dup, XM_024447902.1:c.1278_1281dup, XM_011539537.2:c.1131_1134dup, XM_011539537.1:c.1131_1134dup, XM_024447903.2:c.1170_1173dup, XM_024447903.1:c.1170_1173dup, XM_047424857.1:c.705_708dup, XM_047424851.1:c.1206_1209dup, XM_047424844.1:c.1302_1305dup, XM_047424849.1:c.1278_1281dup, XM_047424847.1:c.1278_1281dup, XM_047424845.1:c.1302_1305dup, XM_047424848.1:c.1278_1281dup, XM_047424846.1:c.1302_1305dup, XM_047424850.1:c.1278_1281dup, XM_047424855.1:c.1107_1110dup, XM_047424853.1:c.1131_1134dup, XM_047424856.1:c.1107_1110dup, XM_047424852.1:c.1131_1134dup, XM_047424854.1:c.1107_1110dup, XM_047424858.1:c.705_708dup, XM_047424859.1:c.705_708dup, NP_036361.1:p.His428fs, NP_001127845.1:p.His428fs, NP_001338108.1:p.His237fs, NP_001338118.1:p.His237fs, NP_001338119.1:p.His237fs, NP_001338102.1:p.His436fs, NP_001338122.1:p.His237fs, NP_001338121.1:p.His237fs, NP_001338116.1:p.His237fs, NP_001338103.1:p.His399fs, NP_001338120.1:p.His237fs, NP_001338115.1:p.His237fs, NP_001338104.1:p.His397fs, NP_001338111.1:p.His237fs, NP_001338114.1:p.His237fs, NP_001338113.1:p.His237fs, NP_001338107.1:p.His237fs, NP_001338117.1:p.His237fs, NP_001338101.1:p.His436fs, NP_001338126.1:p.His237fs, NP_001338098.1:p.His428fs, NP_001338125.1:p.His190fs, NP_001338100.1:p.His436fs, NP_001338109.1:p.His237fs, NP_001338124.1:p.His190fs, NP_001338106.1:p.His237fs, NP_001338099.1:p.His436fs, NP_001338105.1:p.His237fs, NP_001338123.1:p.His190fs, NP_001338112.1:p.His237fs, NP_001338110.1:p.His237fs, XP_005269694.1:p.His407fs, XP_016871436.1:p.His405fs, XP_024303669.1:p.His436fs, XP_024303670.1:p.His428fs, XP_011537839.1:p.His379fs, XP_024303671.1:p.His392fs, XP_047280813.1:p.His237fs, XP_047280807.1:p.His404fs, XP_047280800.1:p.His436fs, XP_047280805.1:p.His428fs, XP_047280803.1:p.His428fs, XP_047280801.1:p.His436fs, XP_047280804.1:p.His428fs, XP_047280802.1:p.His436fs, XP_047280806.1:p.His428fs, XP_047280811.1:p.His371fs, XP_047280809.1:p.His379fs, XP_047280812.1:p.His371fs, XP_047280808.1:p.His379fs, XP_047280810.1:p.His371fs, XP_047280814.1:p.His237fs, XP_047280815.1:p.His237fs

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