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Items: 1 to 20 of 393

1.

rs1488218650 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:127890953 (GRCh38)
    9:130653232 (GRCh37)
    Canonical SPDI:
    NC_000009.12:127890952:C:T
    Gene:
    ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.127890953C>T, NC_000009.11:g.130653232C>T, NM_013443.5:c.388G>A, NM_013443.4:c.388G>A, NM_013443.3:c.388G>A, NM_001287001.2:c.286G>A, NM_001287001.1:c.286G>A, NM_001286999.2:c.388G>A, NM_001286999.1:c.388G>A, NM_001287002.2:c.286G>A, NM_001287002.1:c.286G>A, NM_001287000.2:c.286G>A, NM_001287000.1:c.286G>A, NR_104629.2:n.480G>A, NR_104629.1:n.504G>A, NR_174625.1:n.1264G>A, NR_174627.1:n.1140G>A, NR_174626.1:n.1140G>A, NR_174632.1:n.533G>A, NR_174628.1:n.518G>A, NR_174630.1:n.518G>A, NR_174629.1:n.463G>A, NR_174631.1:n.463G>A, NR_174621.1:n.1195G>A, NR_174624.1:n.1177G>A, NR_174623.1:n.1177G>A, NM_001388489.1:c.286G>A, NR_174620.1:n.1140G>A, NR_174618.1:n.1140G>A, NR_174619.1:n.1078G>A, NM_001400830.1:c.463G>A, NM_001400831.1:c.286G>A, NM_001400834.1:c.286G>A, NM_001400835.1:c.286G>A, NR_174615.1:n.518G>A, NM_001400833.1:c.286G>A, NR_174616.1:n.456G>A, NR_174612.1:n.456G>A, NR_174617.1:n.463G>A, NR_174613.1:n.456G>A, NR_174614.1:n.401G>A, NP_038471.2:p.Glu130Lys, NP_001273930.1:p.Glu96Lys, NP_001273928.1:p.Glu130Lys, NP_001273931.1:p.Glu96Lys, NP_001273929.1:p.Glu96Lys, NP_001375418.1:p.Glu96Lys, NP_001387759.1:p.Glu155Lys, NP_001387760.1:p.Glu96Lys, NP_001387763.1:p.Glu96Lys, NP_001387764.1:p.Glu96Lys, NP_001387762.1:p.Glu96Lys

    2.

    rs1480689099 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      9:127887548 (GRCh38)
      9:130649827 (GRCh37)
      Canonical SPDI:
      NC_000009.12:127887547:C:A
      Gene:
      ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.127887548C>A, NC_000009.11:g.130649827C>A, NM_013443.5:c.748G>T, NM_013443.4:c.748G>T, NM_013443.3:c.748G>T, NM_001287001.2:c.646G>T, NM_001287001.1:c.646G>T, NM_001286999.2:c.748G>T, NM_001286999.1:c.748G>T, NM_001287002.2:c.646G>T, NM_001287002.1:c.646G>T, NM_001287000.2:c.646G>T, NM_001287000.1:c.646G>T, NR_104629.2:n.821G>T, NR_104629.1:n.845G>T, NM_001287003.2:c.239G>T, NM_001287003.1:c.239G>T, NR_174625.1:n.1624G>T, NR_174627.1:n.1500G>T, NR_174626.1:n.1500G>T, NR_174632.1:n.893G>T, NR_174628.1:n.878G>T, NR_174630.1:n.859G>T, NR_174629.1:n.823G>T, NR_174631.1:n.804G>T, NR_174621.1:n.1555G>T, NR_174624.1:n.1537G>T, NR_174623.1:n.1537G>T, NM_001388489.1:c.646G>T, NR_174620.1:n.1500G>T, NR_174618.1:n.1481G>T, NR_174619.1:n.1438G>T, NM_001400830.1:c.823G>T, NM_001400831.1:c.646G>T, NM_001400834.1:c.646G>T, NM_001400835.1:c.646G>T, NR_174615.1:n.859G>T, NM_001400833.1:c.646G>T, NR_174616.1:n.816G>T, NR_174612.1:n.816G>T, NR_174617.1:n.804G>T, NR_174613.1:n.797G>T, NR_174614.1:n.761G>T, NM_001400832.1:c.239G>T, NP_038471.2:p.Val250Leu, NP_001273930.1:p.Val216Leu, NP_001273928.1:p.Val250Leu, NP_001273931.1:p.Val216Leu, NP_001273929.1:p.Val216Leu, NP_001273932.1:p.Gly80Val, NP_001375418.1:p.Val216Leu, NP_001387759.1:p.Val275Leu, NP_001387760.1:p.Val216Leu, NP_001387763.1:p.Val216Leu, NP_001387764.1:p.Val216Leu, NP_001387762.1:p.Val216Leu, NP_001387761.1:p.Gly80Val

      3.

      rs1479469963 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:127896321 (GRCh38)
        9:130658600 (GRCh37)
        Canonical SPDI:
        NC_000009.12:127896320:G:A
        Gene:
        ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000045/2 (ALFA)
        A=0.000008/2 (GnomAD_exomes)
        A=0.000019/5 (TOPMED)
        A=0.000036/5 (GnomAD)
        HGVS:
        NC_000009.12:g.127896321G>A, NC_000009.11:g.130658600G>A, NM_013443.5:c.38C>T, NM_013443.4:c.38C>T, NM_013443.3:c.38C>T, NM_001287001.2:c.-65C>T, NM_001287001.1:c.-65C>T, NM_001286999.2:c.38C>T, NM_001286999.1:c.38C>T, NM_001287002.2:c.-65C>T, NM_001287002.1:c.-65C>T, NM_001287000.2:c.-65C>T, NM_001287000.1:c.-65C>T, NR_104629.2:n.130C>T, NR_104629.1:n.154C>T, NM_001287003.2:c.-65C>T, NM_001287003.1:c.-65C>T, NR_174625.1:n.914C>T, NR_174627.1:n.790C>T, NR_174626.1:n.790C>T, NR_174632.1:n.183C>T, NR_174628.1:n.168C>T, NR_174630.1:n.168C>T, NR_174629.1:n.113C>T, NR_174631.1:n.113C>T, NR_174621.1:n.845C>T, NR_174624.1:n.827C>T, NR_174623.1:n.827C>T, NM_001388489.1:c.-65C>T, NR_174620.1:n.790C>T, NR_174618.1:n.790C>T, NR_174619.1:n.790C>T, NM_001400830.1:c.113C>T, NM_001400831.1:c.-65C>T, NM_001400834.1:c.-65C>T, NM_001400835.1:c.-65C>T, NR_174615.1:n.168C>T, NM_001400833.1:c.-65C>T, NR_174616.1:n.168C>T, NR_174612.1:n.168C>T, NR_174617.1:n.113C>T, NR_174613.1:n.168C>T, NR_174614.1:n.113C>T, NM_001400832.1:c.-65C>T, NP_038471.2:p.Thr13Ile, NP_001273928.1:p.Thr13Ile, NP_001387759.1:p.Thr38Ile

        4.

        rs1477748238 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          9:127886668 (GRCh38)
          9:130648947 (GRCh37)
          Canonical SPDI:
          NC_000009.12:127886667:G:A,NC_000009.12:127886667:G:T
          Gene:
          ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
          Functional Consequence:
          missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          T=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.127886668G>A, NC_000009.12:g.127886668G>T, NC_000009.11:g.130648947G>A, NC_000009.11:g.130648947G>T, NM_013443.5:c.933C>T, NM_013443.5:c.933C>A, NM_013443.4:c.933C>T, NM_013443.4:c.933C>A, NM_013443.3:c.933C>T, NM_013443.3:c.933C>A, NM_001287001.2:c.831C>T, NM_001287001.2:c.831C>A, NM_001287001.1:c.831C>T, NM_001287001.1:c.831C>A, NM_001286999.2:c.929C>T, NM_001286999.2:c.929C>A, NM_001286999.1:c.929C>T, NM_001286999.1:c.929C>A, NM_001287002.2:c.831C>T, NM_001287002.2:c.831C>A, NM_001287002.1:c.831C>T, NM_001287002.1:c.831C>A, NM_001287000.2:c.831C>T, NM_001287000.2:c.831C>A, NM_001287000.1:c.831C>T, NM_001287000.1:c.831C>A, NR_104629.2:n.1002C>T, NR_104629.2:n.1002C>A, NR_104629.1:n.1026C>T, NR_104629.1:n.1026C>A, NM_001287003.2:c.*163C>T, NM_001287003.2:c.*163C>A, NM_001287003.1:c.*163C>T, NM_001287003.1:c.*163C>A, NR_174625.1:n.1805C>T, NR_174625.1:n.1805C>A, NR_174627.1:n.1685C>T, NR_174627.1:n.1685C>A, NR_174626.1:n.1685C>T, NR_174626.1:n.1685C>A, NR_174632.1:n.1078C>T, NR_174632.1:n.1078C>A, NR_174628.1:n.1063C>T, NR_174628.1:n.1063C>A, NR_174630.1:n.1044C>T, NR_174630.1:n.1044C>A, NR_174629.1:n.1008C>T, NR_174629.1:n.1008C>A, NR_174631.1:n.989C>T, NR_174631.1:n.989C>A, NR_174621.1:n.1740C>T, NR_174621.1:n.1740C>A, NR_174624.1:n.1722C>T, NR_174624.1:n.1722C>A, NR_174623.1:n.1722C>T, NR_174623.1:n.1722C>A, NM_001388489.1:c.831C>T, NM_001388489.1:c.831C>A, NR_174620.1:n.1681C>T, NR_174620.1:n.1681C>A, NR_174618.1:n.1666C>T, NR_174618.1:n.1666C>A, NR_174619.1:n.1623C>T, NR_174619.1:n.1623C>A, NM_001400830.1:c.1008C>T, NM_001400830.1:c.1008C>A, NM_001400831.1:c.831C>T, NM_001400831.1:c.831C>A, NM_001400834.1:c.827C>T, NM_001400834.1:c.827C>A, NM_001400835.1:c.827C>T, NM_001400835.1:c.827C>A, NR_174615.1:n.1044C>T, NR_174615.1:n.1044C>A, NM_001400833.1:c.827C>T, NM_001400833.1:c.827C>A, NR_174616.1:n.1001C>T, NR_174616.1:n.1001C>A, NR_174612.1:n.997C>T, NR_174612.1:n.997C>A, NR_174617.1:n.989C>T, NR_174617.1:n.989C>A, NR_174613.1:n.982C>T, NR_174613.1:n.982C>A, NR_174614.1:n.946C>T, NR_174614.1:n.946C>A, NM_001400832.1:c.*163C>T, NM_001400832.1:c.*163C>A, NP_001273928.1:p.Pro310Leu, NP_001273928.1:p.Pro310Gln, NP_001387763.1:p.Pro276Leu, NP_001387763.1:p.Pro276Gln, NP_001387764.1:p.Pro276Leu, NP_001387764.1:p.Pro276Gln, NP_001387762.1:p.Pro276Leu, NP_001387762.1:p.Pro276Gln

          5.

          rs1474891455 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            9:127886485 (GRCh38)
            9:130648764 (GRCh37)
            Canonical SPDI:
            NC_000009.12:127886484:T:C
            Gene:
            ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
            Functional Consequence:
            coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000009.12:g.127886485T>C, NC_000009.11:g.130648764T>C, NM_013443.5:c.*114A>G, NM_013443.4:c.*114A>G, NM_013443.3:c.*114A>G, NM_001287001.2:c.*114A>G, NM_001287001.1:c.*114A>G, NM_001286999.2:c.1112A>G, NM_001286999.1:c.1112A>G, NM_001287002.2:c.*114A>G, NM_001287002.1:c.*114A>G, NM_001287000.2:c.*114A>G, NM_001287000.1:c.*114A>G, NR_104629.2:n.1185A>G, NR_104629.1:n.1209A>G, NM_001287003.2:c.*346A>G, NM_001287003.1:c.*346A>G, NR_174625.1:n.1988A>G, NR_174627.1:n.1868A>G, NR_174626.1:n.1868A>G, NR_174632.1:n.1261A>G, NR_174628.1:n.1246A>G, NR_174630.1:n.1227A>G, NR_174629.1:n.1191A>G, NR_174631.1:n.1172A>G, NR_174621.1:n.1923A>G, NR_174624.1:n.1905A>G, NR_174623.1:n.1905A>G, NM_001388489.1:c.*114A>G, NR_174620.1:n.1864A>G, NR_174618.1:n.1849A>G, NR_174619.1:n.1806A>G, NM_001400830.1:c.*114A>G, NM_001400831.1:c.*114A>G, NM_001400834.1:c.1010A>G, NM_001400835.1:c.1010A>G, NR_174615.1:n.1227A>G, NM_001400833.1:c.1010A>G, NR_174616.1:n.1184A>G, NR_174612.1:n.1180A>G, NR_174617.1:n.1172A>G, NR_174613.1:n.1165A>G, NR_174614.1:n.1129A>G, NM_001400832.1:c.*346A>G, NP_001273928.1:p.Gln371Arg, NP_001387763.1:p.Gln337Arg, NP_001387764.1:p.Gln337Arg, NP_001387762.1:p.Gln337Arg

            6.

            rs1465214967 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              9:127890817 (GRCh38)
              9:130653096 (GRCh37)
              Canonical SPDI:
              NC_000009.12:127890816:G:T
              Gene:
              ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000009.12:g.127890817G>T, NC_000009.11:g.130653096G>T, NM_013443.5:c.524C>A, NM_013443.4:c.524C>A, NM_013443.3:c.524C>A, NM_001287001.2:c.422C>A, NM_001287001.1:c.422C>A, NM_001286999.2:c.524C>A, NM_001286999.1:c.524C>A, NM_001287002.2:c.422C>A, NM_001287002.1:c.422C>A, NM_001287000.2:c.422C>A, NM_001287000.1:c.422C>A, NR_104629.2:n.616C>A, NR_104629.1:n.640C>A, NR_174625.1:n.1400C>A, NR_174627.1:n.1276C>A, NR_174626.1:n.1276C>A, NR_174632.1:n.669C>A, NR_174628.1:n.654C>A, NR_174630.1:n.654C>A, NR_174629.1:n.599C>A, NR_174631.1:n.599C>A, NR_174621.1:n.1331C>A, NR_174624.1:n.1313C>A, NR_174623.1:n.1313C>A, NM_001388489.1:c.422C>A, NR_174620.1:n.1276C>A, NR_174618.1:n.1276C>A, NR_174619.1:n.1214C>A, NM_001400830.1:c.599C>A, NM_001400831.1:c.422C>A, NM_001400834.1:c.422C>A, NM_001400835.1:c.422C>A, NR_174615.1:n.654C>A, NM_001400833.1:c.422C>A, NR_174616.1:n.592C>A, NR_174612.1:n.592C>A, NR_174617.1:n.599C>A, NR_174613.1:n.592C>A, NR_174614.1:n.537C>A, NP_038471.2:p.Thr175Asn, NP_001273930.1:p.Thr141Asn, NP_001273928.1:p.Thr175Asn, NP_001273931.1:p.Thr141Asn, NP_001273929.1:p.Thr141Asn, NP_001375418.1:p.Thr141Asn, NP_001387759.1:p.Thr200Asn, NP_001387760.1:p.Thr141Asn, NP_001387763.1:p.Thr141Asn, NP_001387764.1:p.Thr141Asn, NP_001387762.1:p.Thr141Asn

              7.

              rs1458656954 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                9:127890662 (GRCh38)
                9:130652941 (GRCh37)
                Canonical SPDI:
                NC_000009.12:127890661:A:G
                Gene:
                ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000009.12:g.127890662A>G, NC_000009.11:g.130652941A>G, NM_013443.5:c.679T>C, NM_013443.4:c.679T>C, NM_013443.3:c.679T>C, NM_001287001.2:c.577T>C, NM_001287001.1:c.577T>C, NM_001286999.2:c.679T>C, NM_001286999.1:c.679T>C, NM_001287002.2:c.577T>C, NM_001287002.1:c.577T>C, NM_001287000.2:c.577T>C, NM_001287000.1:c.577T>C, NR_104629.2:n.771T>C, NR_104629.1:n.795T>C, NR_174625.1:n.1555T>C, NR_174627.1:n.1431T>C, NR_174626.1:n.1431T>C, NR_174632.1:n.824T>C, NR_174628.1:n.809T>C, NR_174630.1:n.809T>C, NR_174629.1:n.754T>C, NR_174631.1:n.754T>C, NR_174621.1:n.1486T>C, NR_174624.1:n.1468T>C, NR_174623.1:n.1468T>C, NM_001388489.1:c.577T>C, NR_174620.1:n.1431T>C, NR_174618.1:n.1431T>C, NR_174619.1:n.1369T>C, NM_001400830.1:c.754T>C, NM_001400831.1:c.577T>C, NM_001400834.1:c.577T>C, NM_001400835.1:c.577T>C, NR_174615.1:n.809T>C, NM_001400833.1:c.577T>C, NR_174616.1:n.747T>C, NR_174612.1:n.747T>C, NR_174617.1:n.754T>C, NR_174613.1:n.747T>C, NR_174614.1:n.692T>C, NP_038471.2:p.Phe227Leu, NP_001273930.1:p.Phe193Leu, NP_001273928.1:p.Phe227Leu, NP_001273931.1:p.Phe193Leu, NP_001273929.1:p.Phe193Leu, NP_001375418.1:p.Phe193Leu, NP_001387759.1:p.Phe252Leu, NP_001387760.1:p.Phe193Leu, NP_001387763.1:p.Phe193Leu, NP_001387764.1:p.Phe193Leu, NP_001387762.1:p.Phe193Leu

                8.

                rs1457879801 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:127886572 (GRCh38)
                  9:130648851 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:127886571:C:T
                  Gene:
                  ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.127886572C>T, NC_000009.11:g.130648851C>T, NM_013443.5:c.*27G>A, NM_013443.4:c.*27G>A, NM_013443.3:c.*27G>A, NM_001287001.2:c.*27G>A, NM_001287001.1:c.*27G>A, NM_001286999.2:c.1025G>A, NM_001286999.1:c.1025G>A, NM_001287002.2:c.*27G>A, NM_001287002.1:c.*27G>A, NM_001287000.2:c.*27G>A, NM_001287000.1:c.*27G>A, NR_104629.2:n.1098G>A, NR_104629.1:n.1122G>A, NM_001287003.2:c.*259G>A, NM_001287003.1:c.*259G>A, NR_174625.1:n.1901G>A, NR_174627.1:n.1781G>A, NR_174626.1:n.1781G>A, NR_174632.1:n.1174G>A, NR_174628.1:n.1159G>A, NR_174630.1:n.1140G>A, NR_174629.1:n.1104G>A, NR_174631.1:n.1085G>A, NR_174621.1:n.1836G>A, NR_174624.1:n.1818G>A, NR_174623.1:n.1818G>A, NM_001388489.1:c.*27G>A, NR_174620.1:n.1777G>A, NR_174618.1:n.1762G>A, NR_174619.1:n.1719G>A, NM_001400830.1:c.*27G>A, NM_001400831.1:c.*27G>A, NM_001400834.1:c.923G>A, NM_001400835.1:c.923G>A, NR_174615.1:n.1140G>A, NM_001400833.1:c.923G>A, NR_174616.1:n.1097G>A, NR_174612.1:n.1093G>A, NR_174617.1:n.1085G>A, NR_174613.1:n.1078G>A, NR_174614.1:n.1042G>A, NM_001400832.1:c.*259G>A, NP_001273928.1:p.Arg342Lys, NP_001387763.1:p.Arg308Lys, NP_001387764.1:p.Arg308Lys, NP_001387762.1:p.Arg308Lys

                  9.

                  rs1452999443 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:127886648 (GRCh38)
                    9:130648927 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:127886647:G:A
                    Gene:
                    ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_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.127886648G>A, NC_000009.11:g.130648927G>A, NM_013443.5:c.953C>T, NM_013443.4:c.953C>T, NM_013443.3:c.953C>T, NM_001287001.2:c.851C>T, NM_001287001.1:c.851C>T, NM_001286999.2:c.949C>T, NM_001286999.1:c.949C>T, NM_001287002.2:c.851C>T, NM_001287002.1:c.851C>T, NM_001287000.2:c.851C>T, NM_001287000.1:c.851C>T, NR_104629.2:n.1022C>T, NR_104629.1:n.1046C>T, NM_001287003.2:c.*183C>T, NM_001287003.1:c.*183C>T, NR_174625.1:n.1825C>T, NR_174627.1:n.1705C>T, NR_174626.1:n.1705C>T, NR_174632.1:n.1098C>T, NR_174628.1:n.1083C>T, NR_174630.1:n.1064C>T, NR_174629.1:n.1028C>T, NR_174631.1:n.1009C>T, NR_174621.1:n.1760C>T, NR_174624.1:n.1742C>T, NR_174623.1:n.1742C>T, NM_001388489.1:c.851C>T, NR_174620.1:n.1701C>T, NR_174618.1:n.1686C>T, NR_174619.1:n.1643C>T, NM_001400830.1:c.1028C>T, NM_001400831.1:c.851C>T, NM_001400834.1:c.847C>T, NM_001400835.1:c.847C>T, NR_174615.1:n.1064C>T, NM_001400833.1:c.847C>T, NR_174616.1:n.1021C>T, NR_174612.1:n.1017C>T, NR_174617.1:n.1009C>T, NR_174613.1:n.1002C>T, NR_174614.1:n.966C>T, NM_001400832.1:c.*183C>T, NP_038471.2:p.Ser318Leu, NP_001273930.1:p.Ser284Leu, NP_001273928.1:p.Arg317Cys, NP_001273931.1:p.Ser284Leu, NP_001273929.1:p.Ser284Leu, NP_001375418.1:p.Ser284Leu, NP_001387759.1:p.Ser343Leu, NP_001387760.1:p.Ser284Leu, NP_001387763.1:p.Arg283Cys, NP_001387764.1:p.Arg283Cys, NP_001387762.1:p.Arg283Cys

                    10.

                    rs1448767660 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      9:127886636 (GRCh38)
                      9:130648915 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:127886635:A:T
                      Gene:
                      ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000009.12:g.127886636A>T, NC_000009.11:g.130648915A>T, NM_013443.5:c.965T>A, NM_013443.4:c.965T>A, NM_013443.3:c.965T>A, NM_001287001.2:c.863T>A, NM_001287001.1:c.863T>A, NM_001286999.2:c.961T>A, NM_001286999.1:c.961T>A, NM_001287002.2:c.863T>A, NM_001287002.1:c.863T>A, NM_001287000.2:c.863T>A, NM_001287000.1:c.863T>A, NR_104629.2:n.1034T>A, NR_104629.1:n.1058T>A, NM_001287003.2:c.*195T>A, NM_001287003.1:c.*195T>A, NR_174625.1:n.1837T>A, NR_174627.1:n.1717T>A, NR_174626.1:n.1717T>A, NR_174632.1:n.1110T>A, NR_174628.1:n.1095T>A, NR_174630.1:n.1076T>A, NR_174629.1:n.1040T>A, NR_174631.1:n.1021T>A, NR_174621.1:n.1772T>A, NR_174624.1:n.1754T>A, NR_174623.1:n.1754T>A, NM_001388489.1:c.863T>A, NR_174620.1:n.1713T>A, NR_174618.1:n.1698T>A, NR_174619.1:n.1655T>A, NM_001400830.1:c.1040T>A, NM_001400831.1:c.863T>A, NM_001400834.1:c.859T>A, NM_001400835.1:c.859T>A, NR_174615.1:n.1076T>A, NM_001400833.1:c.859T>A, NR_174616.1:n.1033T>A, NR_174612.1:n.1029T>A, NR_174617.1:n.1021T>A, NR_174613.1:n.1014T>A, NR_174614.1:n.978T>A, NM_001400832.1:c.*195T>A, NP_038471.2:p.Leu322Gln, NP_001273930.1:p.Leu288Gln, NP_001273928.1:p.Cys321Ser, NP_001273931.1:p.Leu288Gln, NP_001273929.1:p.Leu288Gln, NP_001375418.1:p.Leu288Gln, NP_001387759.1:p.Leu347Gln, NP_001387760.1:p.Leu288Gln, NP_001387763.1:p.Cys287Ser, NP_001387764.1:p.Cys287Ser, NP_001387762.1:p.Cys287Ser

                      11.

                      rs1447692834 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:127890959 (GRCh38)
                        9:130653238 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:127890958:G:A
                        Gene:
                        ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        A=0.000012/3 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.127890959G>A, NC_000009.11:g.130653238G>A, NM_013443.5:c.382C>T, NM_013443.4:c.382C>T, NM_013443.3:c.382C>T, NM_001287001.2:c.280C>T, NM_001287001.1:c.280C>T, NM_001286999.2:c.382C>T, NM_001286999.1:c.382C>T, NM_001287002.2:c.280C>T, NM_001287002.1:c.280C>T, NM_001287000.2:c.280C>T, NM_001287000.1:c.280C>T, NR_104629.2:n.474C>T, NR_104629.1:n.498C>T, NR_174625.1:n.1258C>T, NR_174627.1:n.1134C>T, NR_174626.1:n.1134C>T, NR_174632.1:n.527C>T, NR_174628.1:n.512C>T, NR_174630.1:n.512C>T, NR_174629.1:n.457C>T, NR_174631.1:n.457C>T, NR_174621.1:n.1189C>T, NR_174624.1:n.1171C>T, NR_174623.1:n.1171C>T, NM_001388489.1:c.280C>T, NR_174620.1:n.1134C>T, NR_174618.1:n.1134C>T, NR_174619.1:n.1072C>T, NM_001400830.1:c.457C>T, NM_001400831.1:c.280C>T, NM_001400834.1:c.280C>T, NM_001400835.1:c.280C>T, NR_174615.1:n.512C>T, NM_001400833.1:c.280C>T, NR_174616.1:n.450C>T, NR_174612.1:n.450C>T, NR_174617.1:n.457C>T, NR_174613.1:n.450C>T, NR_174614.1:n.395C>T, NP_038471.2:p.Arg128Trp, NP_001273930.1:p.Arg94Trp, NP_001273928.1:p.Arg128Trp, NP_001273931.1:p.Arg94Trp, NP_001273929.1:p.Arg94Trp, NP_001375418.1:p.Arg94Trp, NP_001387759.1:p.Arg153Trp, NP_001387760.1:p.Arg94Trp, NP_001387763.1:p.Arg94Trp, NP_001387764.1:p.Arg94Trp, NP_001387762.1:p.Arg94Trp

                        12.

                        rs1446704278 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTGGTGCCCAGC>- [Show Flanks]
                          Chromosome:
                          9:127890979 (GRCh38)
                          9:130653258 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:127890971:GCCCAGCTTGGTGCCCAGC:GCCCAGC
                          Gene:
                          ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,inframe_deletion,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.127890979_127890990del, NC_000009.11:g.130653258_130653269del, NM_013443.5:c.358_369del, NM_013443.4:c.358_369del, NM_013443.3:c.358_369del, NM_001287001.2:c.256_267del, NM_001287001.1:c.256_267del, NM_001286999.2:c.358_369del, NM_001286999.1:c.358_369del, NM_001287002.2:c.256_267del, NM_001287002.1:c.256_267del, NM_001287000.2:c.256_267del, NM_001287000.1:c.256_267del, NR_104629.2:n.450_461del, NR_104629.1:n.474_485del, NR_174625.1:n.1234_1245del, NR_174627.1:n.1110_1121del, NR_174626.1:n.1110_1121del, NR_174632.1:n.503_514del, NR_174628.1:n.488_499del, NR_174630.1:n.488_499del, NR_174629.1:n.433_444del, NR_174631.1:n.433_444del, NR_174621.1:n.1165_1176del, NR_174624.1:n.1147_1158del, NR_174623.1:n.1147_1158del, NM_001388489.1:c.256_267del, NR_174620.1:n.1110_1121del, NR_174618.1:n.1110_1121del, NR_174619.1:n.1048_1059del, NM_001400830.1:c.433_444del, NM_001400831.1:c.256_267del, NM_001400834.1:c.256_267del, NM_001400835.1:c.256_267del, NR_174615.1:n.488_499del, NM_001400833.1:c.256_267del, NR_174616.1:n.426_437del, NR_174612.1:n.426_437del, NR_174617.1:n.433_444del, NR_174613.1:n.426_437del, NR_174614.1:n.371_382del, NP_038471.2:p.Thr120_Gly123del, NP_001273930.1:p.Thr86_Gly89del, NP_001273928.1:p.Thr120_Gly123del, NP_001273931.1:p.Thr86_Gly89del, NP_001273929.1:p.Thr86_Gly89del, NP_001375418.1:p.Thr86_Gly89del, NP_001387759.1:p.Thr145_Gly148del, NP_001387760.1:p.Thr86_Gly89del, NP_001387763.1:p.Thr86_Gly89del, NP_001387764.1:p.Thr86_Gly89del, NP_001387762.1:p.Thr86_Gly89del

                          13.

                          rs1446321352 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:127890764 (GRCh38)
                            9:130653043 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:127890763:G:A
                            Gene:
                            ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,stop_gained,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.127890764G>A, NC_000009.11:g.130653043G>A, NM_013443.5:c.577C>T, NM_013443.4:c.577C>T, NM_013443.3:c.577C>T, NM_001287001.2:c.475C>T, NM_001287001.1:c.475C>T, NM_001286999.2:c.577C>T, NM_001286999.1:c.577C>T, NM_001287002.2:c.475C>T, NM_001287002.1:c.475C>T, NM_001287000.2:c.475C>T, NM_001287000.1:c.475C>T, NR_104629.2:n.669C>T, NR_104629.1:n.693C>T, NR_174625.1:n.1453C>T, NR_174627.1:n.1329C>T, NR_174626.1:n.1329C>T, NR_174632.1:n.722C>T, NR_174628.1:n.707C>T, NR_174630.1:n.707C>T, NR_174629.1:n.652C>T, NR_174631.1:n.652C>T, NR_174621.1:n.1384C>T, NR_174624.1:n.1366C>T, NR_174623.1:n.1366C>T, NM_001388489.1:c.475C>T, NR_174620.1:n.1329C>T, NR_174618.1:n.1329C>T, NR_174619.1:n.1267C>T, NM_001400830.1:c.652C>T, NM_001400831.1:c.475C>T, NM_001400834.1:c.475C>T, NM_001400835.1:c.475C>T, NR_174615.1:n.707C>T, NM_001400833.1:c.475C>T, NR_174616.1:n.645C>T, NR_174612.1:n.645C>T, NR_174617.1:n.652C>T, NR_174613.1:n.645C>T, NR_174614.1:n.590C>T, NP_038471.2:p.Gln193Ter, NP_001273930.1:p.Gln159Ter, NP_001273928.1:p.Gln193Ter, NP_001273931.1:p.Gln159Ter, NP_001273929.1:p.Gln159Ter, NP_001375418.1:p.Gln159Ter, NP_001387759.1:p.Gln218Ter, NP_001387760.1:p.Gln159Ter, NP_001387763.1:p.Gln159Ter, NP_001387764.1:p.Gln159Ter, NP_001387762.1:p.Gln159Ter

                            14.

                            rs1446201459 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:127886544 (GRCh38)
                              9:130648823 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:127886543:C:T
                              Gene:
                              ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000009.12:g.127886544C>T, NC_000009.11:g.130648823C>T, NM_013443.5:c.*55G>A, NM_013443.4:c.*55G>A, NM_013443.3:c.*55G>A, NM_001287001.2:c.*55G>A, NM_001287001.1:c.*55G>A, NM_001286999.2:c.1053G>A, NM_001286999.1:c.1053G>A, NM_001287002.2:c.*55G>A, NM_001287002.1:c.*55G>A, NM_001287000.2:c.*55G>A, NM_001287000.1:c.*55G>A, NR_104629.2:n.1126G>A, NR_104629.1:n.1150G>A, NM_001287003.2:c.*287G>A, NM_001287003.1:c.*287G>A, NR_174625.1:n.1929G>A, NR_174627.1:n.1809G>A, NR_174626.1:n.1809G>A, NR_174632.1:n.1202G>A, NR_174628.1:n.1187G>A, NR_174630.1:n.1168G>A, NR_174629.1:n.1132G>A, NR_174631.1:n.1113G>A, NR_174621.1:n.1864G>A, NR_174624.1:n.1846G>A, NR_174623.1:n.1846G>A, NM_001388489.1:c.*55G>A, NR_174620.1:n.1805G>A, NR_174618.1:n.1790G>A, NR_174619.1:n.1747G>A, NM_001400830.1:c.*55G>A, NM_001400831.1:c.*55G>A, NM_001400834.1:c.951G>A, NM_001400835.1:c.951G>A, NR_174615.1:n.1168G>A, NM_001400833.1:c.951G>A, NR_174616.1:n.1125G>A, NR_174612.1:n.1121G>A, NR_174617.1:n.1113G>A, NR_174613.1:n.1106G>A, NR_174614.1:n.1070G>A, NM_001400832.1:c.*287G>A

                              15.

                              rs1430745975 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:127894557 (GRCh38)
                                9:130656836 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:127894556:C:T
                                Gene:
                                ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000111/1 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.127894557C>T, NC_000009.11:g.130656836C>T, NM_013443.5:c.252G>A, NM_013443.4:c.252G>A, NM_013443.3:c.252G>A, NM_001287001.2:c.150G>A, NM_001287001.1:c.150G>A, NM_001286999.2:c.252G>A, NM_001286999.1:c.252G>A, NM_001287002.2:c.150G>A, NM_001287002.1:c.150G>A, NM_001287000.2:c.150G>A, NM_001287000.1:c.150G>A, NR_104629.2:n.344G>A, NR_104629.1:n.368G>A, NM_001287003.2:c.150G>A, NM_001287003.1:c.150G>A, NR_174625.1:n.1128G>A, NR_174627.1:n.1004G>A, NR_174626.1:n.1004G>A, NR_174632.1:n.397G>A, NR_174628.1:n.382G>A, NR_174630.1:n.382G>A, NR_174629.1:n.327G>A, NR_174631.1:n.327G>A, NR_174621.1:n.1059G>A, NR_174624.1:n.1041G>A, NR_174623.1:n.1041G>A, NM_001388489.1:c.150G>A, NR_174620.1:n.1004G>A, NR_174618.1:n.1004G>A, NR_174619.1:n.942G>A, NM_001400830.1:c.327G>A, NM_001400831.1:c.150G>A, NM_001400834.1:c.150G>A, NM_001400835.1:c.150G>A, NR_174615.1:n.382G>A, NM_001400833.1:c.150G>A, NR_174616.1:n.320G>A, NR_174612.1:n.320G>A, NR_174617.1:n.327G>A, NR_174613.1:n.320G>A, NR_174614.1:n.265G>A, NM_001400832.1:c.150G>A

                                16.

                                rs1430040366 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  9:127890811 (GRCh38)
                                  9:130653090 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:127890810:T:G
                                  Gene:
                                  ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.127890811T>G, NC_000009.11:g.130653090T>G, NM_013443.5:c.530A>C, NM_013443.4:c.530A>C, NM_013443.3:c.530A>C, NM_001287001.2:c.428A>C, NM_001287001.1:c.428A>C, NM_001286999.2:c.530A>C, NM_001286999.1:c.530A>C, NM_001287002.2:c.428A>C, NM_001287002.1:c.428A>C, NM_001287000.2:c.428A>C, NM_001287000.1:c.428A>C, NR_104629.2:n.622A>C, NR_104629.1:n.646A>C, NR_174625.1:n.1406A>C, NR_174627.1:n.1282A>C, NR_174626.1:n.1282A>C, NR_174632.1:n.675A>C, NR_174628.1:n.660A>C, NR_174630.1:n.660A>C, NR_174629.1:n.605A>C, NR_174631.1:n.605A>C, NR_174621.1:n.1337A>C, NR_174624.1:n.1319A>C, NR_174623.1:n.1319A>C, NM_001388489.1:c.428A>C, NR_174620.1:n.1282A>C, NR_174618.1:n.1282A>C, NR_174619.1:n.1220A>C, NM_001400830.1:c.605A>C, NM_001400831.1:c.428A>C, NM_001400834.1:c.428A>C, NM_001400835.1:c.428A>C, NR_174615.1:n.660A>C, NM_001400833.1:c.428A>C, NR_174616.1:n.598A>C, NR_174612.1:n.598A>C, NR_174617.1:n.605A>C, NR_174613.1:n.598A>C, NR_174614.1:n.543A>C, NP_038471.2:p.Glu177Ala, NP_001273930.1:p.Glu143Ala, NP_001273928.1:p.Glu177Ala, NP_001273931.1:p.Glu143Ala, NP_001273929.1:p.Glu143Ala, NP_001375418.1:p.Glu143Ala, NP_001387759.1:p.Glu202Ala, NP_001387760.1:p.Glu143Ala, NP_001387763.1:p.Glu143Ala, NP_001387764.1:p.Glu143Ala, NP_001387762.1:p.Glu143Ala

                                  17.

                                  rs1426428882 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:127886588 (GRCh38)
                                    9:130648867 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:127886587:G:A
                                    Gene:
                                    ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_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.127886588G>A, NC_000009.11:g.130648867G>A, NM_013443.5:c.*11C>T, NM_013443.4:c.*11C>T, NM_013443.3:c.*11C>T, NM_001287001.2:c.*11C>T, NM_001287001.1:c.*11C>T, NM_001286999.2:c.1009C>T, NM_001286999.1:c.1009C>T, NM_001287002.2:c.*11C>T, NM_001287002.1:c.*11C>T, NM_001287000.2:c.*11C>T, NM_001287000.1:c.*11C>T, NR_104629.2:n.1082C>T, NR_104629.1:n.1106C>T, NM_001287003.2:c.*243C>T, NM_001287003.1:c.*243C>T, NR_174625.1:n.1885C>T, NR_174627.1:n.1765C>T, NR_174626.1:n.1765C>T, NR_174632.1:n.1158C>T, NR_174628.1:n.1143C>T, NR_174630.1:n.1124C>T, NR_174629.1:n.1088C>T, NR_174631.1:n.1069C>T, NR_174621.1:n.1820C>T, NR_174624.1:n.1802C>T, NR_174623.1:n.1802C>T, NM_001388489.1:c.*11C>T, NR_174620.1:n.1761C>T, NR_174618.1:n.1746C>T, NR_174619.1:n.1703C>T, NM_001400830.1:c.*11C>T, NM_001400831.1:c.*11C>T, NM_001400834.1:c.907C>T, NM_001400835.1:c.907C>T, NR_174615.1:n.1124C>T, NM_001400833.1:c.907C>T, NR_174616.1:n.1081C>T, NR_174612.1:n.1077C>T, NR_174617.1:n.1069C>T, NR_174613.1:n.1062C>T, NR_174614.1:n.1026C>T, NM_001400832.1:c.*243C>T

                                    18.

                                    rs1425865785 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:127886676 (GRCh38)
                                      9:130648955 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:127886675:A:G
                                      Gene:
                                      ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.127886676A>G, NC_000009.11:g.130648955A>G, NM_013443.5:c.925T>C, NM_013443.4:c.925T>C, NM_013443.3:c.925T>C, NM_001287001.2:c.823T>C, NM_001287001.1:c.823T>C, NM_001286999.2:c.921T>C, NM_001286999.1:c.921T>C, NM_001287002.2:c.823T>C, NM_001287002.1:c.823T>C, NM_001287000.2:c.823T>C, NM_001287000.1:c.823T>C, NR_104629.2:n.994T>C, NR_104629.1:n.1018T>C, NM_001287003.2:c.*155T>C, NM_001287003.1:c.*155T>C, NR_174625.1:n.1797T>C, NR_174627.1:n.1677T>C, NR_174626.1:n.1677T>C, NR_174632.1:n.1070T>C, NR_174628.1:n.1055T>C, NR_174630.1:n.1036T>C, NR_174629.1:n.1000T>C, NR_174631.1:n.981T>C, NR_174621.1:n.1732T>C, NR_174624.1:n.1714T>C, NR_174623.1:n.1714T>C, NM_001388489.1:c.823T>C, NR_174620.1:n.1673T>C, NR_174618.1:n.1658T>C, NR_174619.1:n.1615T>C, NM_001400830.1:c.1000T>C, NM_001400831.1:c.823T>C, NM_001400834.1:c.819T>C, NM_001400835.1:c.819T>C, NR_174615.1:n.1036T>C, NM_001400833.1:c.819T>C, NR_174616.1:n.993T>C, NR_174612.1:n.989T>C, NR_174617.1:n.981T>C, NR_174613.1:n.974T>C, NR_174614.1:n.938T>C, NM_001400832.1:c.*155T>C, NP_038471.2:p.Phe309Leu, NP_001273930.1:p.Phe275Leu, NP_001273931.1:p.Phe275Leu, NP_001273929.1:p.Phe275Leu, NP_001375418.1:p.Phe275Leu, NP_001387759.1:p.Phe334Leu, NP_001387760.1:p.Phe275Leu

                                      19.

                                      rs1425517191 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        9:127886589 (GRCh38)
                                        9:130648868 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:127886588:G:C
                                        Gene:
                                        ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000009.12:g.127886589G>C, NC_000009.11:g.130648868G>C, NM_013443.5:c.*10C>G, NM_013443.4:c.*10C>G, NM_013443.3:c.*10C>G, NM_001287001.2:c.*10C>G, NM_001287001.1:c.*10C>G, NM_001286999.2:c.1008C>G, NM_001286999.1:c.1008C>G, NM_001287002.2:c.*10C>G, NM_001287002.1:c.*10C>G, NM_001287000.2:c.*10C>G, NM_001287000.1:c.*10C>G, NR_104629.2:n.1081C>G, NR_104629.1:n.1105C>G, NM_001287003.2:c.*242C>G, NM_001287003.1:c.*242C>G, NR_174625.1:n.1884C>G, NR_174627.1:n.1764C>G, NR_174626.1:n.1764C>G, NR_174632.1:n.1157C>G, NR_174628.1:n.1142C>G, NR_174630.1:n.1123C>G, NR_174629.1:n.1087C>G, NR_174631.1:n.1068C>G, NR_174621.1:n.1819C>G, NR_174624.1:n.1801C>G, NR_174623.1:n.1801C>G, NM_001388489.1:c.*10C>G, NR_174620.1:n.1760C>G, NR_174618.1:n.1745C>G, NR_174619.1:n.1702C>G, NM_001400830.1:c.*10C>G, NM_001400831.1:c.*10C>G, NM_001400834.1:c.906C>G, NM_001400835.1:c.906C>G, NR_174615.1:n.1123C>G, NM_001400833.1:c.906C>G, NR_174616.1:n.1080C>G, NR_174612.1:n.1076C>G, NR_174617.1:n.1068C>G, NR_174613.1:n.1061C>G, NR_174614.1:n.1025C>G, NM_001400832.1:c.*242C>G, NP_001273928.1:p.Ser336Arg, NP_001387763.1:p.Ser302Arg, NP_001387764.1:p.Ser302Arg, NP_001387762.1:p.Ser302Arg

                                        20.

                                        rs1422661681 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          9:127896264 (GRCh38)
                                          9:130658543 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:127896263:C:A,NC_000009.12:127896263:C:T
                                          Gene:
                                          ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000043/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000017/2 (ExAC)
                                          T=0.000036/5 (GnomAD)
                                          HGVS:
                                          NC_000009.12:g.127896264C>A, NC_000009.12:g.127896264C>T, NC_000009.11:g.130658543C>A, NC_000009.11:g.130658543C>T, NM_013443.5:c.95G>T, NM_013443.5:c.95G>A, NM_013443.4:c.95G>T, NM_013443.4:c.95G>A, NM_013443.3:c.95G>T, NM_013443.3:c.95G>A, NM_001287001.2:c.-8G>T, NM_001287001.2:c.-8G>A, NM_001287001.1:c.-8G>T, NM_001287001.1:c.-8G>A, NM_001286999.2:c.95G>T, NM_001286999.2:c.95G>A, NM_001286999.1:c.95G>T, NM_001286999.1:c.95G>A, NM_001287002.2:c.-8G>T, NM_001287002.2:c.-8G>A, NM_001287002.1:c.-8G>T, NM_001287002.1:c.-8G>A, NM_001287000.2:c.-8G>T, NM_001287000.2:c.-8G>A, NM_001287000.1:c.-8G>T, NM_001287000.1:c.-8G>A, NR_104629.2:n.187G>T, NR_104629.2:n.187G>A, NR_104629.1:n.211G>T, NR_104629.1:n.211G>A, NM_001287003.2:c.-8G>T, NM_001287003.2:c.-8G>A, NM_001287003.1:c.-8G>T, NM_001287003.1:c.-8G>A, NR_174625.1:n.971G>T, NR_174625.1:n.971G>A, NR_174627.1:n.847G>T, NR_174627.1:n.847G>A, NR_174626.1:n.847G>T, NR_174626.1:n.847G>A, NR_174632.1:n.240G>T, NR_174632.1:n.240G>A, NR_174628.1:n.225G>T, NR_174628.1:n.225G>A, NR_174630.1:n.225G>T, NR_174630.1:n.225G>A, NR_174629.1:n.170G>T, NR_174629.1:n.170G>A, NR_174631.1:n.170G>T, NR_174631.1:n.170G>A, NR_174621.1:n.902G>T, NR_174621.1:n.902G>A, NR_174624.1:n.884G>T, NR_174624.1:n.884G>A, NR_174623.1:n.884G>T, NR_174623.1:n.884G>A, NM_001388489.1:c.-8G>T, NM_001388489.1:c.-8G>A, NR_174620.1:n.847G>T, NR_174620.1:n.847G>A, NR_174618.1:n.847G>T, NR_174618.1:n.847G>A, NR_174619.1:n.847G>T, NR_174619.1:n.847G>A, NM_001400830.1:c.170G>T, NM_001400830.1:c.170G>A, NM_001400831.1:c.-8G>T, NM_001400831.1:c.-8G>A, NM_001400834.1:c.-8G>T, NM_001400834.1:c.-8G>A, NM_001400835.1:c.-8G>T, NM_001400835.1:c.-8G>A, NR_174615.1:n.225G>T, NR_174615.1:n.225G>A, NM_001400833.1:c.-8G>T, NM_001400833.1:c.-8G>A, NR_174616.1:n.225G>T, NR_174616.1:n.225G>A, NR_174612.1:n.225G>T, NR_174612.1:n.225G>A, NR_174617.1:n.170G>T, NR_174617.1:n.170G>A, NR_174613.1:n.225G>T, NR_174613.1:n.225G>A, NR_174614.1:n.170G>T, NR_174614.1:n.170G>A, NM_001400832.1:c.-8G>T, NM_001400832.1:c.-8G>A, NP_038471.2:p.Arg32Leu, NP_038471.2:p.Arg32Gln, NP_001273928.1:p.Arg32Leu, NP_001273928.1:p.Arg32Gln, NP_001387759.1:p.Arg57Leu, NP_001387759.1:p.Arg57Gln

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