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Items: 1 to 20 of 364

1.

rs1489712698 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:91220974 (GRCh38)
    9:93983256 (GRCh37)
    Canonical SPDI:
    NC_000009.12:91220973:G:A
    Gene:
    AUH (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.91220974G>A, NC_000009.11:g.93983256G>A, NG_008017.1:g.145951C>T, NM_001698.3:c.674C>T, NM_001698.2:c.674C>T, NM_001351432.2:c.347C>T, NM_001351432.1:c.347C>T, NM_001351431.2:c.347C>T, NM_001351431.1:c.347C>T, NM_001351433.2:c.347C>T, NM_001351433.1:c.347C>T, NM_001306190.2:c.587C>T, NM_001306190.1:c.587C>T, XM_005252067.5:c.704C>T, XM_005252067.4:c.704C>T, XM_005252067.3:c.704C>T, XM_005252067.2:c.704C>T, XM_005252067.1:c.704C>T, XM_005252069.5:c.704C>T, XM_005252069.4:c.704C>T, XM_005252069.3:c.704C>T, XM_005252069.2:c.704C>T, XM_005252069.1:c.704C>T, XM_005252066.4:c.704C>T, XM_005252066.3:c.704C>T, XM_005252066.2:c.704C>T, XM_005252066.1:c.704C>T, XM_006717150.4:c.617C>T, XM_006717150.3:c.617C>T, XM_006717150.2:c.617C>T, XM_006717150.1:c.617C>T, XM_017014849.2:c.674C>T, XM_017014849.1:c.674C>T, XM_047423527.1:c.350C>T, XM_047423528.1:c.347C>T, XM_047423526.1:c.674C>T, XM_047423525.1:c.587C>T, XM_047423530.1:c.230C>T, XR_007061323.1:n.875C>T, XR_007061324.1:n.845C>T, NP_001689.1:p.Pro225Leu, NP_001338361.1:p.Pro116Leu, NP_001338360.1:p.Pro116Leu, NP_001338362.1:p.Pro116Leu, NP_001293119.1:p.Pro196Leu, XP_005252124.1:p.Pro235Leu, XP_005252126.1:p.Pro235Leu, XP_005252123.1:p.Pro235Leu, XP_006717213.1:p.Pro206Leu, XP_016870338.1:p.Pro225Leu, XP_047279483.1:p.Pro117Leu, XP_047279484.1:p.Pro116Leu, XP_047279482.1:p.Pro225Leu, XP_047279481.1:p.Pro196Leu, XP_047279486.1:p.Pro77Leu

    2.

    rs1486281057 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      9:91296048 (GRCh38)
      9:94058330 (GRCh37)
      Canonical SPDI:
      NC_000009.12:91296047:T:C
      Gene:
      AUH (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.91296048T>C, NC_000009.11:g.94058330T>C, NG_008017.1:g.70877A>G, NM_001698.3:c.628A>G, NM_001698.2:c.628A>G, NM_001351432.2:c.301A>G, NM_001351432.1:c.301A>G, NM_001351431.2:c.301A>G, NM_001351431.1:c.301A>G, NM_001351433.2:c.301A>G, NM_001351433.1:c.301A>G, NM_001306190.2:c.541A>G, NM_001306190.1:c.541A>G, XM_005252067.5:c.658A>G, XM_005252067.4:c.658A>G, XM_005252067.3:c.658A>G, XM_005252067.2:c.658A>G, XM_005252067.1:c.658A>G, XM_005252069.5:c.658A>G, XM_005252069.4:c.658A>G, XM_005252069.3:c.658A>G, XM_005252069.2:c.658A>G, XM_005252069.1:c.658A>G, XM_011518800.4:c.658A>G, XM_011518800.3:c.658A>G, XM_011518800.2:c.658A>G, XM_011518800.1:c.658A>G, XM_005252066.4:c.658A>G, XM_005252066.3:c.658A>G, XM_005252066.2:c.658A>G, XM_005252066.1:c.658A>G, XM_006717150.4:c.571A>G, XM_006717150.3:c.571A>G, XM_006717150.2:c.571A>G, XM_006717150.1:c.571A>G, XM_005252072.3:c.628A>G, XM_005252072.2:c.628A>G, XM_005252072.1:c.628A>G, XM_017014849.2:c.628A>G, XM_017014849.1:c.628A>G, XM_047423529.1:c.541A>G, XM_047423527.1:c.304A>G, XM_047423528.1:c.301A>G, XM_047423526.1:c.628A>G, XM_047423525.1:c.541A>G, XM_047423530.1:c.184A>G, XR_007061323.1:n.687A>G, XR_007061324.1:n.657A>G, NP_001689.1:p.Thr210Ala, NP_001338361.1:p.Thr101Ala, NP_001338360.1:p.Thr101Ala, NP_001338362.1:p.Thr101Ala, NP_001293119.1:p.Thr181Ala, XP_005252124.1:p.Thr220Ala, XP_005252126.1:p.Thr220Ala, XP_011517102.1:p.Thr220Ala, XP_005252123.1:p.Thr220Ala, XP_006717213.1:p.Thr191Ala, XP_005252129.1:p.Thr210Ala, XP_016870338.1:p.Thr210Ala, XP_047279485.1:p.Thr181Ala, XP_047279483.1:p.Thr102Ala, XP_047279484.1:p.Thr101Ala, XP_047279482.1:p.Thr210Ala, XP_047279481.1:p.Thr181Ala, XP_047279486.1:p.Thr62Ala

      3.

      rs1484578345 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        9:91355912 (GRCh38)
        9:94118194 (GRCh37)
        Canonical SPDI:
        NC_000009.12:91355911:C:G
        Gene:
        AUH (Varview)
        Functional Consequence:
        missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.91355912C>G, NC_000009.11:g.94118194C>G, NG_008017.1:g.11013G>C, NM_001698.3:c.389G>C, NM_001698.2:c.389G>C, NM_001351432.2:c.62G>C, NM_001351432.1:c.62G>C, NM_001351431.2:c.62G>C, NM_001351431.1:c.62G>C, NM_001351433.2:c.62G>C, NM_001351433.1:c.62G>C, NM_001306190.2:c.389G>C, NM_001306190.1:c.389G>C, XM_005252067.5:c.419G>C, XM_005252067.4:c.419G>C, XM_005252067.3:c.419G>C, XM_005252067.2:c.419G>C, XM_005252067.1:c.419G>C, XM_005252069.5:c.419G>C, XM_005252069.4:c.419G>C, XM_005252069.3:c.419G>C, XM_005252069.2:c.419G>C, XM_005252069.1:c.419G>C, XM_011518800.4:c.419G>C, XM_011518800.3:c.419G>C, XM_011518800.2:c.419G>C, XM_011518800.1:c.419G>C, XM_005252066.4:c.419G>C, XM_005252066.3:c.419G>C, XM_005252066.2:c.419G>C, XM_005252066.1:c.419G>C, XM_006717150.4:c.419G>C, XM_006717150.3:c.419G>C, XM_006717150.2:c.419G>C, XM_006717150.1:c.419G>C, XM_005252072.3:c.389G>C, XM_005252072.2:c.389G>C, XM_005252072.1:c.389G>C, XM_011518803.3:c.419G>C, XM_011518803.2:c.419G>C, XM_011518803.1:c.419G>C, XM_017014849.2:c.389G>C, XM_017014849.1:c.389G>C, XM_047423529.1:c.389G>C, XM_047423527.1:c.-1971G>C, XM_047423528.1:c.62G>C, XM_047423526.1:c.389G>C, XM_047423525.1:c.389G>C, XR_007061323.1:n.448G>C, XR_007061324.1:n.418G>C, NP_001689.1:p.Arg130Thr, NP_001338361.1:p.Arg21Thr, NP_001338360.1:p.Arg21Thr, NP_001338362.1:p.Arg21Thr, NP_001293119.1:p.Arg130Thr, XP_005252124.1:p.Arg140Thr, XP_005252126.1:p.Arg140Thr, XP_011517102.1:p.Arg140Thr, XP_005252123.1:p.Arg140Thr, XP_006717213.1:p.Arg140Thr, XP_005252129.1:p.Arg130Thr, XP_011517105.1:p.Arg140Thr, XP_016870338.1:p.Arg130Thr, XP_047279485.1:p.Arg130Thr, XP_047279484.1:p.Arg21Thr, XP_047279482.1:p.Arg130Thr, XP_047279481.1:p.Arg130Thr

        4.

        rs1482564472 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          9:91361850 (GRCh38)
          9:94124132 (GRCh37)
          Canonical SPDI:
          NC_000009.12:91361849:A:G,NC_000009.12:91361849:A:T
          Gene:
          AUH (Varview)
          Functional Consequence:
          missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.91361850A>G, NC_000009.12:g.91361850A>T, NC_000009.11:g.94124132A>G, NC_000009.11:g.94124132A>T, NG_008017.1:g.5075T>C, NG_008017.1:g.5075T>A, NM_001698.3:c.40T>C, NM_001698.3:c.40T>A, NM_001698.2:c.40T>C, NM_001698.2:c.40T>A, NM_001351432.2:c.-450T>C, NM_001351432.2:c.-450T>A, NM_001351432.1:c.-450T>C, NM_001351432.1:c.-450T>A, NM_001351431.2:c.-358T>C, NM_001351431.2:c.-358T>A, NM_001351431.1:c.-358T>C, NM_001351431.1:c.-358T>A, NM_001351433.2:c.-358T>C, NM_001351433.2:c.-358T>A, NM_001351433.1:c.-358T>C, NM_001351433.1:c.-358T>A, NM_001306190.2:c.40T>C, NM_001306190.2:c.40T>A, NM_001306190.1:c.40T>C, NM_001306190.1:c.40T>A, XM_005252067.5:c.40T>C, XM_005252067.5:c.40T>A, XM_005252067.4:c.40T>C, XM_005252067.4:c.40T>A, XM_005252067.3:c.40T>C, XM_005252067.3:c.40T>A, XM_005252067.2:c.40T>C, XM_005252067.2:c.40T>A, XM_005252067.1:c.40T>C, XM_005252067.1:c.40T>A, XM_005252069.5:c.40T>C, XM_005252069.5:c.40T>A, XM_005252069.4:c.40T>C, XM_005252069.4:c.40T>A, XM_005252069.3:c.40T>C, XM_005252069.3:c.40T>A, XM_005252069.2:c.40T>C, XM_005252069.2:c.40T>A, XM_005252069.1:c.40T>C, XM_005252069.1:c.40T>A, XM_011518800.4:c.40T>C, XM_011518800.4:c.40T>A, XM_011518800.3:c.40T>C, XM_011518800.3:c.40T>A, XM_011518800.2:c.40T>C, XM_011518800.2:c.40T>A, XM_011518800.1:c.40T>C, XM_011518800.1:c.40T>A, XM_005252066.4:c.40T>C, XM_005252066.4:c.40T>A, XM_005252066.3:c.40T>C, XM_005252066.3:c.40T>A, XM_005252066.2:c.40T>C, XM_005252066.2:c.40T>A, XM_005252066.1:c.40T>C, XM_005252066.1:c.40T>A, XM_006717150.4:c.40T>C, XM_006717150.4:c.40T>A, XM_006717150.3:c.40T>C, XM_006717150.3:c.40T>A, XM_006717150.2:c.40T>C, XM_006717150.2:c.40T>A, XM_006717150.1:c.40T>C, XM_006717150.1:c.40T>A, XM_005252072.3:c.40T>C, XM_005252072.3:c.40T>A, XM_005252072.2:c.40T>C, XM_005252072.2:c.40T>A, XM_005252072.1:c.40T>C, XM_005252072.1:c.40T>A, XM_011518803.3:c.40T>C, XM_011518803.3:c.40T>A, XM_011518803.2:c.40T>C, XM_011518803.2:c.40T>A, XM_011518803.1:c.40T>C, XM_011518803.1:c.40T>A, XM_017014849.2:c.40T>C, XM_017014849.2:c.40T>A, XM_017014849.1:c.40T>C, XM_017014849.1:c.40T>A, XM_047423529.1:c.40T>C, XM_047423529.1:c.40T>A, XM_047423526.1:c.40T>C, XM_047423526.1:c.40T>A, XM_047423525.1:c.40T>C, XM_047423525.1:c.40T>A, XR_007061323.1:n.69T>C, XR_007061323.1:n.69T>A, XR_007061324.1:n.69T>C, XR_007061324.1:n.69T>A, NP_001689.1:p.Ser14Pro, NP_001689.1:p.Ser14Thr, NP_001293119.1:p.Ser14Pro, NP_001293119.1:p.Ser14Thr, XP_005252124.1:p.Ser14Pro, XP_005252124.1:p.Ser14Thr, XP_005252126.1:p.Ser14Pro, XP_005252126.1:p.Ser14Thr, XP_011517102.1:p.Ser14Pro, XP_011517102.1:p.Ser14Thr, XP_005252123.1:p.Ser14Pro, XP_005252123.1:p.Ser14Thr, XP_006717213.1:p.Ser14Pro, XP_006717213.1:p.Ser14Thr, XP_005252129.1:p.Ser14Pro, XP_005252129.1:p.Ser14Thr, XP_011517105.1:p.Ser14Pro, XP_011517105.1:p.Ser14Thr, XP_016870338.1:p.Ser14Pro, XP_016870338.1:p.Ser14Thr, XP_047279485.1:p.Ser14Pro, XP_047279485.1:p.Ser14Thr, XP_047279482.1:p.Ser14Pro, XP_047279482.1:p.Ser14Thr, XP_047279481.1:p.Ser14Pro, XP_047279481.1:p.Ser14Thr

          5.

          rs1482267301 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            9:91361784 (GRCh38)
            9:94124066 (GRCh37)
            Canonical SPDI:
            NC_000009.12:91361783:G:C
            Gene:
            AUH (Varview)
            Functional Consequence:
            missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000029/4 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.91361784G>C, NC_000009.11:g.94124066G>C, NG_008017.1:g.5141C>G, NM_001698.3:c.106C>G, NM_001698.2:c.106C>G, NM_001351432.2:c.-384C>G, NM_001351432.1:c.-384C>G, NM_001351431.2:c.-292C>G, NM_001351431.1:c.-292C>G, NM_001351433.2:c.-292C>G, NM_001351433.1:c.-292C>G, NM_001306190.2:c.106C>G, NM_001306190.1:c.106C>G, XM_005252067.5:c.106C>G, XM_005252067.4:c.106C>G, XM_005252067.3:c.106C>G, XM_005252067.2:c.106C>G, XM_005252067.1:c.106C>G, XM_005252069.5:c.106C>G, XM_005252069.4:c.106C>G, XM_005252069.3:c.106C>G, XM_005252069.2:c.106C>G, XM_005252069.1:c.106C>G, XM_011518800.4:c.106C>G, XM_011518800.3:c.106C>G, XM_011518800.2:c.106C>G, XM_011518800.1:c.106C>G, XM_005252066.4:c.106C>G, XM_005252066.3:c.106C>G, XM_005252066.2:c.106C>G, XM_005252066.1:c.106C>G, XM_006717150.4:c.106C>G, XM_006717150.3:c.106C>G, XM_006717150.2:c.106C>G, XM_006717150.1:c.106C>G, XM_005252072.3:c.106C>G, XM_005252072.2:c.106C>G, XM_005252072.1:c.106C>G, XM_011518803.3:c.106C>G, XM_011518803.2:c.106C>G, XM_011518803.1:c.106C>G, XM_017014849.2:c.106C>G, XM_017014849.1:c.106C>G, XM_047423529.1:c.106C>G, XM_047423526.1:c.106C>G, XM_047423525.1:c.106C>G, XR_007061323.1:n.135C>G, XR_007061324.1:n.135C>G, NP_001689.1:p.Leu36Val, NP_001293119.1:p.Leu36Val, XP_005252124.1:p.Leu36Val, XP_005252126.1:p.Leu36Val, XP_011517102.1:p.Leu36Val, XP_005252123.1:p.Leu36Val, XP_006717213.1:p.Leu36Val, XP_005252129.1:p.Leu36Val, XP_011517105.1:p.Leu36Val, XP_016870338.1:p.Leu36Val, XP_047279485.1:p.Leu36Val, XP_047279482.1:p.Leu36Val, XP_047279481.1:p.Leu36Val

            6.

            rs1480719706 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              9:91361776 (GRCh38)
              9:94124058 (GRCh37)
              Canonical SPDI:
              NC_000009.12:91361775:G:A,NC_000009.12:91361775:G:C
              Gene:
              AUH (Varview)
              Functional Consequence:
              5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              C=0./0 (KOREAN)
              C=0.000007/1 (GnomAD_exomes)
              HGVS:
              NC_000009.12:g.91361776G>A, NC_000009.12:g.91361776G>C, NC_000009.11:g.94124058G>A, NC_000009.11:g.94124058G>C, NG_008017.1:g.5149C>T, NG_008017.1:g.5149C>G, NM_001698.3:c.114C>T, NM_001698.3:c.114C>G, NM_001698.2:c.114C>T, NM_001698.2:c.114C>G, NM_001351432.2:c.-376C>T, NM_001351432.2:c.-376C>G, NM_001351432.1:c.-376C>T, NM_001351432.1:c.-376C>G, NM_001351431.2:c.-284C>T, NM_001351431.2:c.-284C>G, NM_001351431.1:c.-284C>T, NM_001351431.1:c.-284C>G, NM_001351433.2:c.-284C>T, NM_001351433.2:c.-284C>G, NM_001351433.1:c.-284C>T, NM_001351433.1:c.-284C>G, NM_001306190.2:c.114C>T, NM_001306190.2:c.114C>G, NM_001306190.1:c.114C>T, NM_001306190.1:c.114C>G, XM_005252067.5:c.114C>T, XM_005252067.5:c.114C>G, XM_005252067.4:c.114C>T, XM_005252067.4:c.114C>G, XM_005252067.3:c.114C>T, XM_005252067.3:c.114C>G, XM_005252067.2:c.114C>T, XM_005252067.2:c.114C>G, XM_005252067.1:c.114C>T, XM_005252067.1:c.114C>G, XM_005252069.5:c.114C>T, XM_005252069.5:c.114C>G, XM_005252069.4:c.114C>T, XM_005252069.4:c.114C>G, XM_005252069.3:c.114C>T, XM_005252069.3:c.114C>G, XM_005252069.2:c.114C>T, XM_005252069.2:c.114C>G, XM_005252069.1:c.114C>T, XM_005252069.1:c.114C>G, XM_011518800.4:c.114C>T, XM_011518800.4:c.114C>G, XM_011518800.3:c.114C>T, XM_011518800.3:c.114C>G, XM_011518800.2:c.114C>T, XM_011518800.2:c.114C>G, XM_011518800.1:c.114C>T, XM_011518800.1:c.114C>G, XM_005252066.4:c.114C>T, XM_005252066.4:c.114C>G, XM_005252066.3:c.114C>T, XM_005252066.3:c.114C>G, XM_005252066.2:c.114C>T, XM_005252066.2:c.114C>G, XM_005252066.1:c.114C>T, XM_005252066.1:c.114C>G, XM_006717150.4:c.114C>T, XM_006717150.4:c.114C>G, XM_006717150.3:c.114C>T, XM_006717150.3:c.114C>G, XM_006717150.2:c.114C>T, XM_006717150.2:c.114C>G, XM_006717150.1:c.114C>T, XM_006717150.1:c.114C>G, XM_005252072.3:c.114C>T, XM_005252072.3:c.114C>G, XM_005252072.2:c.114C>T, XM_005252072.2:c.114C>G, XM_005252072.1:c.114C>T, XM_005252072.1:c.114C>G, XM_011518803.3:c.114C>T, XM_011518803.3:c.114C>G, XM_011518803.2:c.114C>T, XM_011518803.2:c.114C>G, XM_011518803.1:c.114C>T, XM_011518803.1:c.114C>G, XM_017014849.2:c.114C>T, XM_017014849.2:c.114C>G, XM_017014849.1:c.114C>T, XM_017014849.1:c.114C>G, XM_047423529.1:c.114C>T, XM_047423529.1:c.114C>G, XM_047423526.1:c.114C>T, XM_047423526.1:c.114C>G, XM_047423525.1:c.114C>T, XM_047423525.1:c.114C>G, XR_007061323.1:n.143C>T, XR_007061323.1:n.143C>G, XR_007061324.1:n.143C>T, XR_007061324.1:n.143C>G

              7.

              rs1471856715 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                9:91361728 (GRCh38)
                9:94124010 (GRCh37)
                Canonical SPDI:
                NC_000009.12:91361727:C:A,NC_000009.12:91361727:C:G
                Gene:
                AUH (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                G=0.000007/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.91361728C>A, NC_000009.12:g.91361728C>G, NC_000009.11:g.94124010C>A, NC_000009.11:g.94124010C>G, NG_008017.1:g.5197G>T, NG_008017.1:g.5197G>C, NM_001698.3:c.162G>T, NM_001698.3:c.162G>C, NM_001698.2:c.162G>T, NM_001698.2:c.162G>C, NM_001351432.2:c.-328G>T, NM_001351432.2:c.-328G>C, NM_001351432.1:c.-328G>T, NM_001351432.1:c.-328G>C, NM_001351431.2:c.-236G>T, NM_001351431.2:c.-236G>C, NM_001351431.1:c.-236G>T, NM_001351431.1:c.-236G>C, NM_001351433.2:c.-236G>T, NM_001351433.2:c.-236G>C, NM_001351433.1:c.-236G>T, NM_001351433.1:c.-236G>C, NM_001306190.2:c.162G>T, NM_001306190.2:c.162G>C, NM_001306190.1:c.162G>T, NM_001306190.1:c.162G>C, XM_005252067.5:c.162G>T, XM_005252067.5:c.162G>C, XM_005252067.4:c.162G>T, XM_005252067.4:c.162G>C, XM_005252067.3:c.162G>T, XM_005252067.3:c.162G>C, XM_005252067.2:c.162G>T, XM_005252067.2:c.162G>C, XM_005252067.1:c.162G>T, XM_005252067.1:c.162G>C, XM_005252069.5:c.162G>T, XM_005252069.5:c.162G>C, XM_005252069.4:c.162G>T, XM_005252069.4:c.162G>C, XM_005252069.3:c.162G>T, XM_005252069.3:c.162G>C, XM_005252069.2:c.162G>T, XM_005252069.2:c.162G>C, XM_005252069.1:c.162G>T, XM_005252069.1:c.162G>C, XM_011518800.4:c.162G>T, XM_011518800.4:c.162G>C, XM_011518800.3:c.162G>T, XM_011518800.3:c.162G>C, XM_011518800.2:c.162G>T, XM_011518800.2:c.162G>C, XM_011518800.1:c.162G>T, XM_011518800.1:c.162G>C, XM_005252066.4:c.162G>T, XM_005252066.4:c.162G>C, XM_005252066.3:c.162G>T, XM_005252066.3:c.162G>C, XM_005252066.2:c.162G>T, XM_005252066.2:c.162G>C, XM_005252066.1:c.162G>T, XM_005252066.1:c.162G>C, XM_006717150.4:c.162G>T, XM_006717150.4:c.162G>C, XM_006717150.3:c.162G>T, XM_006717150.3:c.162G>C, XM_006717150.2:c.162G>T, XM_006717150.2:c.162G>C, XM_006717150.1:c.162G>T, XM_006717150.1:c.162G>C, XM_005252072.3:c.162G>T, XM_005252072.3:c.162G>C, XM_005252072.2:c.162G>T, XM_005252072.2:c.162G>C, XM_005252072.1:c.162G>T, XM_005252072.1:c.162G>C, XM_011518803.3:c.162G>T, XM_011518803.3:c.162G>C, XM_011518803.2:c.162G>T, XM_011518803.2:c.162G>C, XM_011518803.1:c.162G>T, XM_011518803.1:c.162G>C, XM_017014849.2:c.162G>T, XM_017014849.2:c.162G>C, XM_017014849.1:c.162G>T, XM_017014849.1:c.162G>C, XM_047423529.1:c.162G>T, XM_047423529.1:c.162G>C, XM_047423526.1:c.162G>T, XM_047423526.1:c.162G>C, XM_047423525.1:c.162G>T, XM_047423525.1:c.162G>C, XR_007061323.1:n.191G>T, XR_007061323.1:n.191G>C, XR_007061324.1:n.191G>T, XR_007061324.1:n.191G>C, NP_001689.1:p.Trp54Cys, NP_001689.1:p.Trp54Cys, NP_001293119.1:p.Trp54Cys, NP_001293119.1:p.Trp54Cys, XP_005252124.1:p.Trp54Cys, XP_005252124.1:p.Trp54Cys, XP_005252126.1:p.Trp54Cys, XP_005252126.1:p.Trp54Cys, XP_011517102.1:p.Trp54Cys, XP_011517102.1:p.Trp54Cys, XP_005252123.1:p.Trp54Cys, XP_005252123.1:p.Trp54Cys, XP_006717213.1:p.Trp54Cys, XP_006717213.1:p.Trp54Cys, XP_005252129.1:p.Trp54Cys, XP_005252129.1:p.Trp54Cys, XP_011517105.1:p.Trp54Cys, XP_011517105.1:p.Trp54Cys, XP_016870338.1:p.Trp54Cys, XP_016870338.1:p.Trp54Cys, XP_047279485.1:p.Trp54Cys, XP_047279485.1:p.Trp54Cys, XP_047279482.1:p.Trp54Cys, XP_047279482.1:p.Trp54Cys, XP_047279481.1:p.Trp54Cys, XP_047279481.1:p.Trp54Cys

                8.

                rs1470861035 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  9:91325384 (GRCh38)
                  9:94087666 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:91325383:C:G
                  Gene:
                  AUH (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000009.12:g.91325384C>G, NC_000009.11:g.94087666C>G, NG_008017.1:g.41541G>C, NM_001698.3:c.439G>C, NM_001698.2:c.439G>C, NM_001351432.2:c.112G>C, NM_001351432.1:c.112G>C, NM_001351431.2:c.112G>C, NM_001351431.1:c.112G>C, NM_001351433.2:c.112G>C, NM_001351433.1:c.112G>C, XM_005252067.5:c.469G>C, XM_005252067.4:c.469G>C, XM_005252067.3:c.469G>C, XM_005252067.2:c.469G>C, XM_005252067.1:c.469G>C, XM_005252069.5:c.469G>C, XM_005252069.4:c.469G>C, XM_005252069.3:c.469G>C, XM_005252069.2:c.469G>C, XM_005252069.1:c.469G>C, XM_011518800.4:c.469G>C, XM_011518800.3:c.469G>C, XM_011518800.2:c.469G>C, XM_011518800.1:c.469G>C, XM_005252066.4:c.469G>C, XM_005252066.3:c.469G>C, XM_005252066.2:c.469G>C, XM_005252066.1:c.469G>C, XM_005252072.3:c.439G>C, XM_005252072.2:c.439G>C, XM_005252072.1:c.439G>C, XM_017014849.2:c.439G>C, XM_017014849.1:c.439G>C, XM_047423527.1:c.115G>C, XM_047423528.1:c.112G>C, XM_047423526.1:c.439G>C, XM_047423530.1:c.-6G>C, XR_007061323.1:n.498G>C, XR_007061324.1:n.468G>C, NP_001689.1:p.Ala147Pro, NP_001338361.1:p.Ala38Pro, NP_001338360.1:p.Ala38Pro, NP_001338362.1:p.Ala38Pro, XP_005252124.1:p.Ala157Pro, XP_005252126.1:p.Ala157Pro, XP_011517102.1:p.Ala157Pro, XP_005252123.1:p.Ala157Pro, XP_005252129.1:p.Ala147Pro, XP_016870338.1:p.Ala147Pro, XP_047279483.1:p.Ala39Pro, XP_047279484.1:p.Ala38Pro, XP_047279482.1:p.Ala147Pro

                  9.

                  rs1469688020 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    9:91355949 (GRCh38)
                    9:94118231 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:91355948:A:C
                    Gene:
                    AUH (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.0002/1 (ALFA)
                    C=0.0002/1 (Estonian)
                    HGVS:
                    NC_000009.12:g.91355949A>C, NC_000009.11:g.94118231A>C, NG_008017.1:g.10976T>G, NM_001698.3:c.352T>G, NM_001698.2:c.352T>G, NM_001351432.2:c.25T>G, NM_001351432.1:c.25T>G, NM_001351431.2:c.25T>G, NM_001351431.1:c.25T>G, NM_001351433.2:c.25T>G, NM_001351433.1:c.25T>G, NM_001306190.2:c.352T>G, NM_001306190.1:c.352T>G, XM_005252067.5:c.382T>G, XM_005252067.4:c.382T>G, XM_005252067.3:c.382T>G, XM_005252067.2:c.382T>G, XM_005252067.1:c.382T>G, XM_005252069.5:c.382T>G, XM_005252069.4:c.382T>G, XM_005252069.3:c.382T>G, XM_005252069.2:c.382T>G, XM_005252069.1:c.382T>G, XM_011518800.4:c.382T>G, XM_011518800.3:c.382T>G, XM_011518800.2:c.382T>G, XM_011518800.1:c.382T>G, XM_005252066.4:c.382T>G, XM_005252066.3:c.382T>G, XM_005252066.2:c.382T>G, XM_005252066.1:c.382T>G, XM_006717150.4:c.382T>G, XM_006717150.3:c.382T>G, XM_006717150.2:c.382T>G, XM_006717150.1:c.382T>G, XM_005252072.3:c.352T>G, XM_005252072.2:c.352T>G, XM_005252072.1:c.352T>G, XM_011518803.3:c.382T>G, XM_011518803.2:c.382T>G, XM_011518803.1:c.382T>G, XM_017014849.2:c.352T>G, XM_017014849.1:c.352T>G, XM_047423529.1:c.352T>G, XM_047423527.1:c.-2008T>G, XM_047423528.1:c.25T>G, XM_047423526.1:c.352T>G, XM_047423525.1:c.352T>G, XR_007061323.1:n.411T>G, XR_007061324.1:n.381T>G, NP_001689.1:p.Leu118Val, NP_001338361.1:p.Leu9Val, NP_001338360.1:p.Leu9Val, NP_001338362.1:p.Leu9Val, NP_001293119.1:p.Leu118Val, XP_005252124.1:p.Leu128Val, XP_005252126.1:p.Leu128Val, XP_011517102.1:p.Leu128Val, XP_005252123.1:p.Leu128Val, XP_006717213.1:p.Leu128Val, XP_005252129.1:p.Leu118Val, XP_011517105.1:p.Leu128Val, XP_016870338.1:p.Leu118Val, XP_047279485.1:p.Leu118Val, XP_047279484.1:p.Leu9Val, XP_047279482.1:p.Leu118Val, XP_047279481.1:p.Leu118Val

                    10.

                    rs1468611073 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:91297990 (GRCh38)
                      9:94060272 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:91297989:C:T
                      Gene:
                      AUH (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_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_000009.12:g.91297990C>T, NC_000009.11:g.94060272C>T, NG_008017.1:g.68935G>A, NM_001698.3:c.592G>A, NM_001698.2:c.592G>A, NM_001351432.2:c.265G>A, NM_001351432.1:c.265G>A, NM_001351431.2:c.265G>A, NM_001351431.1:c.265G>A, NM_001351433.2:c.265G>A, NM_001351433.1:c.265G>A, NM_001306190.2:c.505G>A, NM_001306190.1:c.505G>A, XM_005252067.5:c.622G>A, XM_005252067.4:c.622G>A, XM_005252067.3:c.622G>A, XM_005252067.2:c.622G>A, XM_005252067.1:c.622G>A, XM_005252069.5:c.622G>A, XM_005252069.4:c.622G>A, XM_005252069.3:c.622G>A, XM_005252069.2:c.622G>A, XM_005252069.1:c.622G>A, XM_011518800.4:c.622G>A, XM_011518800.3:c.622G>A, XM_011518800.2:c.622G>A, XM_011518800.1:c.622G>A, XM_005252066.4:c.622G>A, XM_005252066.3:c.622G>A, XM_005252066.2:c.622G>A, XM_005252066.1:c.622G>A, XM_006717150.4:c.535G>A, XM_006717150.3:c.535G>A, XM_006717150.2:c.535G>A, XM_006717150.1:c.535G>A, XM_005252072.3:c.592G>A, XM_005252072.2:c.592G>A, XM_005252072.1:c.592G>A, XM_017014849.2:c.592G>A, XM_017014849.1:c.592G>A, XM_047423529.1:c.505G>A, XM_047423527.1:c.268G>A, XM_047423528.1:c.265G>A, XM_047423526.1:c.592G>A, XM_047423525.1:c.505G>A, XM_047423530.1:c.148G>A, XR_007061323.1:n.651G>A, XR_007061324.1:n.621G>A, NP_001689.1:p.Val198Ile, NP_001338361.1:p.Val89Ile, NP_001338360.1:p.Val89Ile, NP_001338362.1:p.Val89Ile, NP_001293119.1:p.Val169Ile, XP_005252124.1:p.Val208Ile, XP_005252126.1:p.Val208Ile, XP_011517102.1:p.Val208Ile, XP_005252123.1:p.Val208Ile, XP_006717213.1:p.Val179Ile, XP_005252129.1:p.Val198Ile, XP_016870338.1:p.Val198Ile, XP_047279485.1:p.Val169Ile, XP_047279483.1:p.Val90Ile, XP_047279484.1:p.Val89Ile, XP_047279482.1:p.Val198Ile, XP_047279481.1:p.Val169Ile, XP_047279486.1:p.Val50Ile

                      11.

                      rs1464985962 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:91216071 (GRCh38)
                        9:93978353 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:91216070:A:G
                        Gene:
                        AUH (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1462653727 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:91361807 (GRCh38)
                          9:94124089 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:91361806:G:A
                          Gene:
                          AUH (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
                          HGVS:
                          NC_000009.12:g.91361807G>A, NC_000009.11:g.94124089G>A, NG_008017.1:g.5118C>T, NM_001698.3:c.83C>T, NM_001698.2:c.83C>T, NM_001351432.2:c.-407C>T, NM_001351432.1:c.-407C>T, NM_001351431.2:c.-315C>T, NM_001351431.1:c.-315C>T, NM_001351433.2:c.-315C>T, NM_001351433.1:c.-315C>T, NM_001306190.2:c.83C>T, NM_001306190.1:c.83C>T, XM_005252067.5:c.83C>T, XM_005252067.4:c.83C>T, XM_005252067.3:c.83C>T, XM_005252067.2:c.83C>T, XM_005252067.1:c.83C>T, XM_005252069.5:c.83C>T, XM_005252069.4:c.83C>T, XM_005252069.3:c.83C>T, XM_005252069.2:c.83C>T, XM_005252069.1:c.83C>T, XM_011518800.4:c.83C>T, XM_011518800.3:c.83C>T, XM_011518800.2:c.83C>T, XM_011518800.1:c.83C>T, XM_005252066.4:c.83C>T, XM_005252066.3:c.83C>T, XM_005252066.2:c.83C>T, XM_005252066.1:c.83C>T, XM_006717150.4:c.83C>T, XM_006717150.3:c.83C>T, XM_006717150.2:c.83C>T, XM_006717150.1:c.83C>T, XM_005252072.3:c.83C>T, XM_005252072.2:c.83C>T, XM_005252072.1:c.83C>T, XM_011518803.3:c.83C>T, XM_011518803.2:c.83C>T, XM_011518803.1:c.83C>T, XM_017014849.2:c.83C>T, XM_017014849.1:c.83C>T, XM_047423529.1:c.83C>T, XM_047423526.1:c.83C>T, XM_047423525.1:c.83C>T, XR_007061323.1:n.112C>T, XR_007061324.1:n.112C>T, NP_001689.1:p.Ala28Val, NP_001293119.1:p.Ala28Val, XP_005252124.1:p.Ala28Val, XP_005252126.1:p.Ala28Val, XP_011517102.1:p.Ala28Val, XP_005252123.1:p.Ala28Val, XP_006717213.1:p.Ala28Val, XP_005252129.1:p.Ala28Val, XP_011517105.1:p.Ala28Val, XP_016870338.1:p.Ala28Val, XP_047279485.1:p.Ala28Val, XP_047279482.1:p.Ala28Val, XP_047279481.1:p.Ala28Val

                          13.

                          rs1462191237 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:91220962 (GRCh38)
                            9:93983244 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:91220961:C:T
                            Gene:
                            AUH (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000029/4 (GnomAD)
                            HGVS:
                            NC_000009.12:g.91220962C>T, NC_000009.11:g.93983244C>T, NG_008017.1:g.145963G>A, NM_001698.3:c.686G>A, NM_001698.2:c.686G>A, NM_001351432.2:c.359G>A, NM_001351432.1:c.359G>A, NM_001351431.2:c.359G>A, NM_001351431.1:c.359G>A, NM_001351433.2:c.359G>A, NM_001351433.1:c.359G>A, NM_001306190.2:c.599G>A, NM_001306190.1:c.599G>A, XM_005252067.5:c.716G>A, XM_005252067.4:c.716G>A, XM_005252067.3:c.716G>A, XM_005252067.2:c.716G>A, XM_005252067.1:c.716G>A, XM_005252069.5:c.716G>A, XM_005252069.4:c.716G>A, XM_005252069.3:c.716G>A, XM_005252069.2:c.716G>A, XM_005252069.1:c.716G>A, XM_005252066.4:c.716G>A, XM_005252066.3:c.716G>A, XM_005252066.2:c.716G>A, XM_005252066.1:c.716G>A, XM_006717150.4:c.629G>A, XM_006717150.3:c.629G>A, XM_006717150.2:c.629G>A, XM_006717150.1:c.629G>A, XM_017014849.2:c.686G>A, XM_017014849.1:c.686G>A, XM_047423527.1:c.362G>A, XM_047423528.1:c.359G>A, XM_047423526.1:c.686G>A, XM_047423525.1:c.599G>A, XM_047423530.1:c.242G>A, XR_007061323.1:n.887G>A, XR_007061324.1:n.857G>A, NP_001689.1:p.Gly229Glu, NP_001338361.1:p.Gly120Glu, NP_001338360.1:p.Gly120Glu, NP_001338362.1:p.Gly120Glu, NP_001293119.1:p.Gly200Glu, XP_005252124.1:p.Gly239Glu, XP_005252126.1:p.Gly239Glu, XP_005252123.1:p.Gly239Glu, XP_006717213.1:p.Gly210Glu, XP_016870338.1:p.Gly229Glu, XP_047279483.1:p.Gly121Glu, XP_047279484.1:p.Gly120Glu, XP_047279482.1:p.Gly229Glu, XP_047279481.1:p.Gly200Glu, XP_047279486.1:p.Gly81Glu

                            14.

                            rs1461559557 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              9:91220940 (GRCh38)
                              9:93983222 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:91220939:G:C
                              Gene:
                              AUH (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (GnomAD_exomes)
                              C=0.000023/6 (TOPMED)
                              C=0.000036/5 (GnomAD)
                              HGVS:
                              NC_000009.12:g.91220940G>C, NC_000009.11:g.93983222G>C, NG_008017.1:g.145985C>G, NM_001698.3:c.708C>G, NM_001698.2:c.708C>G, NM_001351432.2:c.381C>G, NM_001351432.1:c.381C>G, NM_001351431.2:c.381C>G, NM_001351431.1:c.381C>G, NM_001351433.2:c.381C>G, NM_001351433.1:c.381C>G, NM_001306190.2:c.621C>G, NM_001306190.1:c.621C>G, XM_005252067.5:c.738C>G, XM_005252067.4:c.738C>G, XM_005252067.3:c.738C>G, XM_005252067.2:c.738C>G, XM_005252067.1:c.738C>G, XM_005252069.5:c.738C>G, XM_005252069.4:c.738C>G, XM_005252069.3:c.738C>G, XM_005252069.2:c.738C>G, XM_005252069.1:c.738C>G, XM_005252066.4:c.738C>G, XM_005252066.3:c.738C>G, XM_005252066.2:c.738C>G, XM_005252066.1:c.738C>G, XM_006717150.4:c.651C>G, XM_006717150.3:c.651C>G, XM_006717150.2:c.651C>G, XM_006717150.1:c.651C>G, XM_017014849.2:c.708C>G, XM_017014849.1:c.708C>G, XM_047423527.1:c.384C>G, XM_047423528.1:c.381C>G, XM_047423526.1:c.708C>G, XM_047423525.1:c.621C>G, XM_047423530.1:c.264C>G, XR_007061323.1:n.909C>G, XR_007061324.1:n.879C>G

                              15.

                              rs1461159226 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                9:91361865 (GRCh38)
                                9:94124147 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:91361864:G:C
                                Gene:
                                AUH (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000009.12:g.91361865G>C, NC_000009.11:g.94124147G>C, NG_008017.1:g.5060C>G, NM_001698.3:c.25C>G, NM_001698.2:c.25C>G, NM_001351432.2:c.-465C>G, NM_001351432.1:c.-465C>G, NM_001351431.2:c.-373C>G, NM_001351431.1:c.-373C>G, NM_001351433.2:c.-373C>G, NM_001351433.1:c.-373C>G, NM_001306190.2:c.25C>G, NM_001306190.1:c.25C>G, XM_005252067.5:c.25C>G, XM_005252067.4:c.25C>G, XM_005252067.3:c.25C>G, XM_005252067.2:c.25C>G, XM_005252067.1:c.25C>G, XM_005252069.5:c.25C>G, XM_005252069.4:c.25C>G, XM_005252069.3:c.25C>G, XM_005252069.2:c.25C>G, XM_005252069.1:c.25C>G, XM_011518800.4:c.25C>G, XM_011518800.3:c.25C>G, XM_011518800.2:c.25C>G, XM_011518800.1:c.25C>G, XM_005252066.4:c.25C>G, XM_005252066.3:c.25C>G, XM_005252066.2:c.25C>G, XM_005252066.1:c.25C>G, XM_006717150.4:c.25C>G, XM_006717150.3:c.25C>G, XM_006717150.2:c.25C>G, XM_006717150.1:c.25C>G, XM_005252072.3:c.25C>G, XM_005252072.2:c.25C>G, XM_005252072.1:c.25C>G, XM_011518803.3:c.25C>G, XM_011518803.2:c.25C>G, XM_011518803.1:c.25C>G, XM_017014849.2:c.25C>G, XM_017014849.1:c.25C>G, XM_047423529.1:c.25C>G, XM_047423526.1:c.25C>G, XM_047423525.1:c.25C>G, XR_007061323.1:n.54C>G, XR_007061324.1:n.54C>G, NP_001689.1:p.Pro9Ala, NP_001293119.1:p.Pro9Ala, XP_005252124.1:p.Pro9Ala, XP_005252126.1:p.Pro9Ala, XP_011517102.1:p.Pro9Ala, XP_005252123.1:p.Pro9Ala, XP_006717213.1:p.Pro9Ala, XP_005252129.1:p.Pro9Ala, XP_011517105.1:p.Pro9Ala, XP_016870338.1:p.Pro9Ala, XP_047279485.1:p.Pro9Ala, XP_047279482.1:p.Pro9Ala, XP_047279481.1:p.Pro9Ala

                                16.

                                rs1457699686 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  9:91361659 (GRCh38)
                                  9:94123941 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:91361658:C:G
                                  Gene:
                                  AUH (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000009.12:g.91361659C>G, NC_000009.11:g.94123941C>G, NG_008017.1:g.5266G>C, NM_001698.3:c.231G>C, NM_001698.2:c.231G>C, NM_001351432.2:c.-259G>C, NM_001351432.1:c.-259G>C, NM_001351431.2:c.-167G>C, NM_001351431.1:c.-167G>C, NM_001351433.2:c.-167G>C, NM_001351433.1:c.-167G>C, NM_001306190.2:c.231G>C, NM_001306190.1:c.231G>C, XM_005252067.5:c.231G>C, XM_005252067.4:c.231G>C, XM_005252067.3:c.231G>C, XM_005252067.2:c.231G>C, XM_005252067.1:c.231G>C, XM_005252069.5:c.231G>C, XM_005252069.4:c.231G>C, XM_005252069.3:c.231G>C, XM_005252069.2:c.231G>C, XM_005252069.1:c.231G>C, XM_011518800.4:c.231G>C, XM_011518800.3:c.231G>C, XM_011518800.2:c.231G>C, XM_011518800.1:c.231G>C, XM_005252066.4:c.231G>C, XM_005252066.3:c.231G>C, XM_005252066.2:c.231G>C, XM_005252066.1:c.231G>C, XM_006717150.4:c.231G>C, XM_006717150.3:c.231G>C, XM_006717150.2:c.231G>C, XM_006717150.1:c.231G>C, XM_005252072.3:c.231G>C, XM_005252072.2:c.231G>C, XM_005252072.1:c.231G>C, XM_011518803.3:c.231G>C, XM_011518803.2:c.231G>C, XM_011518803.1:c.231G>C, XM_017014849.2:c.231G>C, XM_017014849.1:c.231G>C, XM_047423529.1:c.231G>C, XM_047423526.1:c.231G>C, XM_047423525.1:c.231G>C, XR_007061323.1:n.260G>C, XR_007061324.1:n.260G>C

                                  17.

                                  rs1457620975 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:91361823 (GRCh38)
                                    9:94124105 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:91361822:C:T
                                    Gene:
                                    AUH (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_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_000009.12:g.91361823C>T, NC_000009.11:g.94124105C>T, NG_008017.1:g.5102G>A, NM_001698.3:c.67G>A, NM_001698.2:c.67G>A, NM_001351432.2:c.-423G>A, NM_001351432.1:c.-423G>A, NM_001351431.2:c.-331G>A, NM_001351431.1:c.-331G>A, NM_001351433.2:c.-331G>A, NM_001351433.1:c.-331G>A, NM_001306190.2:c.67G>A, NM_001306190.1:c.67G>A, XM_005252067.5:c.67G>A, XM_005252067.4:c.67G>A, XM_005252067.3:c.67G>A, XM_005252067.2:c.67G>A, XM_005252067.1:c.67G>A, XM_005252069.5:c.67G>A, XM_005252069.4:c.67G>A, XM_005252069.3:c.67G>A, XM_005252069.2:c.67G>A, XM_005252069.1:c.67G>A, XM_011518800.4:c.67G>A, XM_011518800.3:c.67G>A, XM_011518800.2:c.67G>A, XM_011518800.1:c.67G>A, XM_005252066.4:c.67G>A, XM_005252066.3:c.67G>A, XM_005252066.2:c.67G>A, XM_005252066.1:c.67G>A, XM_006717150.4:c.67G>A, XM_006717150.3:c.67G>A, XM_006717150.2:c.67G>A, XM_006717150.1:c.67G>A, XM_005252072.3:c.67G>A, XM_005252072.2:c.67G>A, XM_005252072.1:c.67G>A, XM_011518803.3:c.67G>A, XM_011518803.2:c.67G>A, XM_011518803.1:c.67G>A, XM_017014849.2:c.67G>A, XM_017014849.1:c.67G>A, XM_047423529.1:c.67G>A, XM_047423526.1:c.67G>A, XM_047423525.1:c.67G>A, XR_007061323.1:n.96G>A, XR_007061324.1:n.96G>A, NP_001689.1:p.Val23Met, NP_001293119.1:p.Val23Met, XP_005252124.1:p.Val23Met, XP_005252126.1:p.Val23Met, XP_011517102.1:p.Val23Met, XP_005252123.1:p.Val23Met, XP_006717213.1:p.Val23Met, XP_005252129.1:p.Val23Met, XP_011517105.1:p.Val23Met, XP_016870338.1:p.Val23Met, XP_047279485.1:p.Val23Met, XP_047279482.1:p.Val23Met, XP_047279481.1:p.Val23Met

                                    18.

                                    rs1452693365 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      9:91355936 (GRCh38)
                                      9:94118218 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:91355935:T:C
                                      Gene:
                                      AUH (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.91355936T>C, NC_000009.11:g.94118218T>C, NG_008017.1:g.10989A>G, NM_001698.3:c.365A>G, NM_001698.2:c.365A>G, NM_001351432.2:c.38A>G, NM_001351432.1:c.38A>G, NM_001351431.2:c.38A>G, NM_001351431.1:c.38A>G, NM_001351433.2:c.38A>G, NM_001351433.1:c.38A>G, NM_001306190.2:c.365A>G, NM_001306190.1:c.365A>G, XM_005252067.5:c.395A>G, XM_005252067.4:c.395A>G, XM_005252067.3:c.395A>G, XM_005252067.2:c.395A>G, XM_005252067.1:c.395A>G, XM_005252069.5:c.395A>G, XM_005252069.4:c.395A>G, XM_005252069.3:c.395A>G, XM_005252069.2:c.395A>G, XM_005252069.1:c.395A>G, XM_011518800.4:c.395A>G, XM_011518800.3:c.395A>G, XM_011518800.2:c.395A>G, XM_011518800.1:c.395A>G, XM_005252066.4:c.395A>G, XM_005252066.3:c.395A>G, XM_005252066.2:c.395A>G, XM_005252066.1:c.395A>G, XM_006717150.4:c.395A>G, XM_006717150.3:c.395A>G, XM_006717150.2:c.395A>G, XM_006717150.1:c.395A>G, XM_005252072.3:c.365A>G, XM_005252072.2:c.365A>G, XM_005252072.1:c.365A>G, XM_011518803.3:c.395A>G, XM_011518803.2:c.395A>G, XM_011518803.1:c.395A>G, XM_017014849.2:c.365A>G, XM_017014849.1:c.365A>G, XM_047423529.1:c.365A>G, XM_047423527.1:c.-1995A>G, XM_047423528.1:c.38A>G, XM_047423526.1:c.365A>G, XM_047423525.1:c.365A>G, XR_007061323.1:n.424A>G, XR_007061324.1:n.394A>G, NP_001689.1:p.Lys122Arg, NP_001338361.1:p.Lys13Arg, NP_001338360.1:p.Lys13Arg, NP_001338362.1:p.Lys13Arg, NP_001293119.1:p.Lys122Arg, XP_005252124.1:p.Lys132Arg, XP_005252126.1:p.Lys132Arg, XP_011517102.1:p.Lys132Arg, XP_005252123.1:p.Lys132Arg, XP_006717213.1:p.Lys132Arg, XP_005252129.1:p.Lys122Arg, XP_011517105.1:p.Lys132Arg, XP_016870338.1:p.Lys122Arg, XP_047279485.1:p.Lys122Arg, XP_047279484.1:p.Lys13Arg, XP_047279482.1:p.Lys122Arg, XP_047279481.1:p.Lys122Arg

                                      19.

                                      rs1448500084 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:91214368 (GRCh38)
                                        9:93976650 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:91214367:G:A
                                        Gene:
                                        AUH (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.91214368G>A, NC_000009.11:g.93976650G>A, NG_008017.1:g.152557C>T, NM_001698.3:c.1000C>T, NM_001698.2:c.1000C>T, NM_001351432.2:c.673C>T, NM_001351432.1:c.673C>T, NM_001351431.2:c.673C>T, NM_001351431.1:c.673C>T, NM_001351433.2:c.625C>T, NM_001351433.1:c.625C>T, NM_001306190.2:c.913C>T, NM_001306190.1:c.913C>T, XM_005252067.5:c.982C>T, XM_005252067.4:c.982C>T, XM_005252067.3:c.982C>T, XM_005252067.2:c.982C>T, XM_005252067.1:c.982C>T, XM_005252066.4:c.1030C>T, XM_005252066.3:c.1030C>T, XM_005252066.2:c.1030C>T, XM_005252066.1:c.1030C>T, XM_006717150.4:c.943C>T, XM_006717150.3:c.943C>T, XM_006717150.2:c.943C>T, XM_006717150.1:c.943C>T, XM_017014849.2:c.952C>T, XM_017014849.1:c.952C>T, XM_047423527.1:c.676C>T, XM_047423528.1:c.673C>T, XM_047423525.1:c.865C>T, XM_047423530.1:c.556C>T, NP_001689.1:p.Pro334Ser, NP_001338361.1:p.Pro225Ser, NP_001338360.1:p.Pro225Ser, NP_001338362.1:p.Pro209Ser, NP_001293119.1:p.Pro305Ser, XP_005252124.1:p.Pro328Ser, XP_005252123.1:p.Pro344Ser, XP_006717213.1:p.Pro315Ser, XP_016870338.1:p.Pro318Ser, XP_047279483.1:p.Pro226Ser, XP_047279484.1:p.Pro225Ser, XP_047279481.1:p.Pro289Ser, XP_047279486.1:p.Pro186Ser

                                        20.

                                        rs1448218753 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:91220866 (GRCh38)
                                          9:93983148 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:91220865:T:C
                                          Gene:
                                          AUH (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000011/3 (TOPMED)
                                          C=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000009.12:g.91220866T>C, NC_000009.11:g.93983148T>C, NG_008017.1:g.146059A>G, NM_001698.3:c.782A>G, NM_001698.2:c.782A>G, NM_001351432.2:c.455A>G, NM_001351432.1:c.455A>G, NM_001351431.2:c.455A>G, NM_001351431.1:c.455A>G, NM_001351433.2:c.455A>G, NM_001351433.1:c.455A>G, NM_001306190.2:c.695A>G, NM_001306190.1:c.695A>G, XM_005252067.5:c.812A>G, XM_005252067.4:c.812A>G, XM_005252067.3:c.812A>G, XM_005252067.2:c.812A>G, XM_005252067.1:c.812A>G, XM_005252069.5:c.812A>G, XM_005252069.4:c.812A>G, XM_005252069.3:c.812A>G, XM_005252069.2:c.812A>G, XM_005252069.1:c.812A>G, XM_005252066.4:c.812A>G, XM_005252066.3:c.812A>G, XM_005252066.2:c.812A>G, XM_005252066.1:c.812A>G, XM_006717150.4:c.725A>G, XM_006717150.3:c.725A>G, XM_006717150.2:c.725A>G, XM_006717150.1:c.725A>G, XM_017014849.2:c.782A>G, XM_017014849.1:c.782A>G, XM_047423527.1:c.458A>G, XM_047423528.1:c.455A>G, XM_047423526.1:c.782A>G, XM_047423525.1:c.695A>G, XM_047423530.1:c.338A>G, NP_001689.1:p.Asn261Ser, NP_001338361.1:p.Asn152Ser, NP_001338360.1:p.Asn152Ser, NP_001338362.1:p.Asn152Ser, NP_001293119.1:p.Asn232Ser, XP_005252124.1:p.Asn271Ser, XP_005252126.1:p.Asn271Ser, XP_005252123.1:p.Asn271Ser, XP_006717213.1:p.Asn242Ser, XP_016870338.1:p.Asn261Ser, XP_047279483.1:p.Asn153Ser, XP_047279484.1:p.Asn152Ser, XP_047279482.1:p.Asn261Ser, XP_047279481.1:p.Asn232Ser, XP_047279486.1:p.Asn113Ser

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