U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 239

1.

rs1486715987 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    15:74906331 (GRCh38)
    15:75198672 (GRCh37)
    Canonical SPDI:
    NC_000015.10:74906330:C:A
    Gene:
    FAM219B (Varview)
    Functional Consequence:
    synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000021/3 (GnomAD)
    A=0.000034/9 (TOPMED)
    HGVS:
    NC_000015.10:g.74906331C>A, NC_000015.9:g.75198672C>A, NM_020447.5:c.249G>T, NM_020447.4:c.249G>T, NM_020447.3:c.249G>T, XR_243117.5:n.300G>T, XR_243117.4:n.654G>T, XR_243117.3:n.756G>T, XR_243117.2:n.608G>T, XR_243117.1:n.522G>T, XR_243118.5:n.300G>T, XR_243118.4:n.657G>T, XR_243118.3:n.756G>T, XR_243118.2:n.611G>T, XR_243118.1:n.523G>T, XM_017022433.3:c.249G>T, XM_017022433.2:c.249G>T, XM_017022433.1:c.249G>T, NR_135845.2:n.300G>T, NR_135845.1:n.343G>T, NR_135851.2:n.300G>T, NR_135851.1:n.343G>T, NR_135849.2:n.300G>T, NR_135849.1:n.343G>T, NM_001321922.2:c.249G>T, NM_001321922.1:c.249G>T, NR_135846.2:n.300G>T, NR_135846.1:n.343G>T, NR_135853.2:n.300G>T, NR_135853.1:n.343G>T, NM_001321920.2:c.249G>T, NM_001321920.1:c.249G>T, NM_001321923.2:c.249G>T, NM_001321923.1:c.249G>T, NM_001321921.2:c.249G>T, NM_001321921.1:c.249G>T, XM_047432883.1:c.249G>T, XR_007064481.1:n.300G>T, XM_047432884.1:c.249G>T

    2.

    rs1486064392 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:74906731 (GRCh38)
      15:75199072 (GRCh37)
      Canonical SPDI:
      NC_000015.10:74906730:G:A
      Gene:
      FAM219B (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000015.10:g.74906731G>A, NC_000015.9:g.75199072G>A, NM_020447.5:c.70C>T, NM_020447.4:c.70C>T, NM_020447.3:c.70C>T, XR_243117.5:n.121C>T, XR_243117.4:n.475C>T, XR_243117.3:n.577C>T, XR_243117.2:n.429C>T, XR_243117.1:n.343C>T, XR_243118.5:n.121C>T, XR_243118.4:n.478C>T, XR_243118.3:n.577C>T, XR_243118.2:n.432C>T, XR_243118.1:n.344C>T, XM_017022433.3:c.70C>T, XM_017022433.2:c.70C>T, XM_017022433.1:c.70C>T, NR_135845.2:n.121C>T, NR_135845.1:n.164C>T, NR_135851.2:n.121C>T, NR_135851.1:n.164C>T, NR_135849.2:n.121C>T, NR_135849.1:n.164C>T, NM_001321922.2:c.70C>T, NM_001321922.1:c.70C>T, NR_135842.2:n.121C>T, NR_135842.1:n.164C>T, NR_135850.2:n.121C>T, NR_135850.1:n.164C>T, NR_135841.2:n.121C>T, NR_135841.1:n.164C>T, NR_135854.2:n.121C>T, NR_135854.1:n.164C>T, NR_135848.2:n.121C>T, NR_135848.1:n.164C>T, NR_135843.2:n.121C>T, NR_135843.1:n.164C>T, NR_135846.2:n.121C>T, NR_135846.1:n.164C>T, NR_135853.2:n.121C>T, NR_135853.1:n.164C>T, NM_001321920.2:c.70C>T, NM_001321920.1:c.70C>T, NM_001321923.2:c.70C>T, NM_001321923.1:c.70C>T, NR_135847.2:n.121C>T, NR_135847.1:n.164C>T, NR_135844.2:n.121C>T, NR_135844.1:n.164C>T, NR_135852.2:n.121C>T, NR_135852.1:n.164C>T, NM_001321921.2:c.70C>T, NM_001321921.1:c.70C>T, XM_047432883.1:c.70C>T, XR_007064481.1:n.121C>T, XM_047432884.1:c.70C>T, NP_065180.1:p.Arg24Trp, XP_016877922.1:p.Arg24Trp, NP_001308851.1:p.Arg24Trp, NP_001308849.1:p.Arg24Trp, NP_001308852.1:p.Arg24Trp, NP_001308850.1:p.Arg24Trp, XP_047288839.1:p.Arg24Trp, XP_047288840.1:p.Arg24Trp

      3.

      rs1484645669 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:74906330 (GRCh38)
        15:75198671 (GRCh37)
        Canonical SPDI:
        NC_000015.10:74906329:T:C
        Gene:
        FAM219B (Varview)
        Functional Consequence:
        missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000015.10:g.74906330T>C, NC_000015.9:g.75198671T>C, NM_020447.5:c.250A>G, NM_020447.4:c.250A>G, NM_020447.3:c.250A>G, XR_243117.5:n.301A>G, XR_243117.4:n.655A>G, XR_243117.3:n.757A>G, XR_243117.2:n.609A>G, XR_243117.1:n.523A>G, XR_243118.5:n.301A>G, XR_243118.4:n.658A>G, XR_243118.3:n.757A>G, XR_243118.2:n.612A>G, XR_243118.1:n.524A>G, XM_017022433.3:c.250A>G, XM_017022433.2:c.250A>G, XM_017022433.1:c.250A>G, NR_135845.2:n.301A>G, NR_135845.1:n.344A>G, NR_135851.2:n.301A>G, NR_135851.1:n.344A>G, NR_135849.2:n.301A>G, NR_135849.1:n.344A>G, NM_001321922.2:c.250A>G, NM_001321922.1:c.250A>G, NR_135846.2:n.301A>G, NR_135846.1:n.344A>G, NR_135853.2:n.301A>G, NR_135853.1:n.344A>G, NM_001321920.2:c.250A>G, NM_001321920.1:c.250A>G, NM_001321923.2:c.250A>G, NM_001321923.1:c.250A>G, NM_001321921.2:c.250A>G, NM_001321921.1:c.250A>G, XM_047432883.1:c.250A>G, XR_007064481.1:n.301A>G, XM_047432884.1:c.250A>G, NP_065180.1:p.Arg84Gly, XP_016877922.1:p.Arg84Gly, NP_001308851.1:p.Arg84Gly, NP_001308849.1:p.Arg84Gly, NP_001308852.1:p.Arg84Gly, NP_001308850.1:p.Arg84Gly, XP_047288839.1:p.Arg84Gly, XP_047288840.1:p.Arg84Gly

        4.

        rs1484432086 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          15:74906316 (GRCh38)
          15:75198657 (GRCh37)
          Canonical SPDI:
          NC_000015.10:74906315:C:G,NC_000015.10:74906315:C:T
          Gene:
          FAM219B (Varview)
          Functional Consequence:
          synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000031/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000015.10:g.74906316C>G, NC_000015.10:g.74906316C>T, NC_000015.9:g.75198657C>G, NC_000015.9:g.75198657C>T, NM_020447.5:c.264G>C, NM_020447.5:c.264G>A, NM_020447.4:c.264G>C, NM_020447.4:c.264G>A, NM_020447.3:c.264G>C, NM_020447.3:c.264G>A, XR_243117.5:n.315G>C, XR_243117.5:n.315G>A, XR_243117.4:n.669G>C, XR_243117.4:n.669G>A, XR_243117.3:n.771G>C, XR_243117.3:n.771G>A, XR_243117.2:n.623G>C, XR_243117.2:n.623G>A, XR_243117.1:n.537G>C, XR_243117.1:n.537G>A, XR_243118.5:n.315G>C, XR_243118.5:n.315G>A, XR_243118.4:n.672G>C, XR_243118.4:n.672G>A, XR_243118.3:n.771G>C, XR_243118.3:n.771G>A, XR_243118.2:n.626G>C, XR_243118.2:n.626G>A, XR_243118.1:n.538G>C, XR_243118.1:n.538G>A, XM_017022433.3:c.264G>C, XM_017022433.3:c.264G>A, XM_017022433.2:c.264G>C, XM_017022433.2:c.264G>A, XM_017022433.1:c.264G>C, XM_017022433.1:c.264G>A, NR_135845.2:n.315G>C, NR_135845.2:n.315G>A, NR_135845.1:n.358G>C, NR_135845.1:n.358G>A, NR_135851.2:n.315G>C, NR_135851.2:n.315G>A, NR_135851.1:n.358G>C, NR_135851.1:n.358G>A, NR_135849.2:n.315G>C, NR_135849.2:n.315G>A, NR_135849.1:n.358G>C, NR_135849.1:n.358G>A, NM_001321922.2:c.264G>C, NM_001321922.2:c.264G>A, NM_001321922.1:c.264G>C, NM_001321922.1:c.264G>A, NR_135846.2:n.315G>C, NR_135846.2:n.315G>A, NR_135846.1:n.358G>C, NR_135846.1:n.358G>A, NR_135853.2:n.315G>C, NR_135853.2:n.315G>A, NR_135853.1:n.358G>C, NR_135853.1:n.358G>A, NM_001321920.2:c.264G>C, NM_001321920.2:c.264G>A, NM_001321920.1:c.264G>C, NM_001321920.1:c.264G>A, NM_001321923.2:c.264G>C, NM_001321923.2:c.264G>A, NM_001321923.1:c.264G>C, NM_001321923.1:c.264G>A, NM_001321921.2:c.264G>C, NM_001321921.2:c.264G>A, NM_001321921.1:c.264G>C, NM_001321921.1:c.264G>A, XM_047432883.1:c.264G>C, XM_047432883.1:c.264G>A, XR_007064481.1:n.315G>C, XR_007064481.1:n.315G>A, XM_047432884.1:c.264G>C, XM_047432884.1:c.264G>A

          5.

          rs1484067010 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:74906660 (GRCh38)
            15:75199001 (GRCh37)
            Canonical SPDI:
            NC_000015.10:74906659:C:T
            Gene:
            FAM219B (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000007/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.74906660C>T, NC_000015.9:g.75199001C>T, NM_020447.5:c.141G>A, NM_020447.4:c.141G>A, NM_020447.3:c.141G>A, XR_243117.5:n.192G>A, XR_243117.4:n.546G>A, XR_243117.3:n.648G>A, XR_243117.2:n.500G>A, XR_243117.1:n.414G>A, XR_243118.5:n.192G>A, XR_243118.4:n.549G>A, XR_243118.3:n.648G>A, XR_243118.2:n.503G>A, XR_243118.1:n.415G>A, XM_017022433.3:c.141G>A, XM_017022433.2:c.141G>A, XM_017022433.1:c.141G>A, NR_135845.2:n.192G>A, NR_135845.1:n.235G>A, NR_135851.2:n.192G>A, NR_135851.1:n.235G>A, NR_135849.2:n.192G>A, NR_135849.1:n.235G>A, NM_001321922.2:c.141G>A, NM_001321922.1:c.141G>A, NR_135842.2:n.192G>A, NR_135842.1:n.235G>A, NR_135850.2:n.192G>A, NR_135850.1:n.235G>A, NR_135841.2:n.192G>A, NR_135841.1:n.235G>A, NR_135854.2:n.192G>A, NR_135854.1:n.235G>A, NR_135848.2:n.192G>A, NR_135848.1:n.235G>A, NR_135843.2:n.192G>A, NR_135843.1:n.235G>A, NR_135846.2:n.192G>A, NR_135846.1:n.235G>A, NR_135853.2:n.192G>A, NR_135853.1:n.235G>A, NM_001321920.2:c.141G>A, NM_001321920.1:c.141G>A, NM_001321923.2:c.141G>A, NM_001321923.1:c.141G>A, NR_135847.2:n.192G>A, NR_135847.1:n.235G>A, NR_135844.2:n.192G>A, NR_135844.1:n.235G>A, NR_135852.2:n.192G>A, NR_135852.1:n.235G>A, NM_001321921.2:c.141G>A, NM_001321921.1:c.141G>A, XM_047432883.1:c.141G>A, XR_007064481.1:n.192G>A, XM_047432884.1:c.141G>A

            6.

            rs1483032600 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:74906646 (GRCh38)
              15:75198987 (GRCh37)
              Canonical SPDI:
              NC_000015.10:74906645:G:A
              Gene:
              FAM219B (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000015.10:g.74906646G>A, NC_000015.9:g.75198987G>A, NM_020447.5:c.155C>T, NM_020447.4:c.155C>T, NM_020447.3:c.155C>T, XR_243117.5:n.206C>T, XR_243117.4:n.560C>T, XR_243117.3:n.662C>T, XR_243117.2:n.514C>T, XR_243117.1:n.428C>T, XR_243118.5:n.206C>T, XR_243118.4:n.563C>T, XR_243118.3:n.662C>T, XR_243118.2:n.517C>T, XR_243118.1:n.429C>T, XM_017022433.3:c.155C>T, XM_017022433.2:c.155C>T, XM_017022433.1:c.155C>T, NR_135845.2:n.206C>T, NR_135845.1:n.249C>T, NR_135851.2:n.206C>T, NR_135851.1:n.249C>T, NR_135849.2:n.206C>T, NR_135849.1:n.249C>T, NM_001321922.2:c.155C>T, NM_001321922.1:c.155C>T, NR_135842.2:n.206C>T, NR_135842.1:n.249C>T, NR_135850.2:n.206C>T, NR_135850.1:n.249C>T, NR_135841.2:n.206C>T, NR_135841.1:n.249C>T, NR_135854.2:n.206C>T, NR_135854.1:n.249C>T, NR_135848.2:n.206C>T, NR_135848.1:n.249C>T, NR_135843.2:n.206C>T, NR_135843.1:n.249C>T, NR_135846.2:n.206C>T, NR_135846.1:n.249C>T, NR_135853.2:n.206C>T, NR_135853.1:n.249C>T, NM_001321920.2:c.155C>T, NM_001321920.1:c.155C>T, NM_001321923.2:c.155C>T, NM_001321923.1:c.155C>T, NR_135847.2:n.206C>T, NR_135847.1:n.249C>T, NR_135844.2:n.206C>T, NR_135844.1:n.249C>T, NR_135852.2:n.206C>T, NR_135852.1:n.249C>T, NM_001321921.2:c.155C>T, NM_001321921.1:c.155C>T, XM_047432883.1:c.155C>T, XR_007064481.1:n.206C>T, XM_047432884.1:c.155C>T, NP_065180.1:p.Ala52Val, XP_016877922.1:p.Ala52Val, NP_001308851.1:p.Ala52Val, NP_001308849.1:p.Ala52Val, NP_001308852.1:p.Ala52Val, NP_001308850.1:p.Ala52Val, XP_047288839.1:p.Ala52Val, XP_047288840.1:p.Ala52Val

              7.

              rs1475535707 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                15:74906738 (GRCh38)
                15:75199079 (GRCh37)
                Canonical SPDI:
                NC_000015.10:74906737:G:C
                Gene:
                FAM219B (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000015.10:g.74906738G>C, NC_000015.9:g.75199079G>C, NM_020447.5:c.63C>G, NM_020447.4:c.63C>G, NM_020447.3:c.63C>G, XR_243117.5:n.114C>G, XR_243117.4:n.468C>G, XR_243117.3:n.570C>G, XR_243117.2:n.422C>G, XR_243117.1:n.336C>G, XR_243118.5:n.114C>G, XR_243118.4:n.471C>G, XR_243118.3:n.570C>G, XR_243118.2:n.425C>G, XR_243118.1:n.337C>G, XM_017022433.3:c.63C>G, XM_017022433.2:c.63C>G, XM_017022433.1:c.63C>G, NR_135845.2:n.114C>G, NR_135845.1:n.157C>G, NR_135851.2:n.114C>G, NR_135851.1:n.157C>G, NR_135849.2:n.114C>G, NR_135849.1:n.157C>G, NM_001321922.2:c.63C>G, NM_001321922.1:c.63C>G, NR_135842.2:n.114C>G, NR_135842.1:n.157C>G, NR_135850.2:n.114C>G, NR_135850.1:n.157C>G, NR_135841.2:n.114C>G, NR_135841.1:n.157C>G, NR_135854.2:n.114C>G, NR_135854.1:n.157C>G, NR_135848.2:n.114C>G, NR_135848.1:n.157C>G, NR_135843.2:n.114C>G, NR_135843.1:n.157C>G, NR_135846.2:n.114C>G, NR_135846.1:n.157C>G, NR_135853.2:n.114C>G, NR_135853.1:n.157C>G, NM_001321920.2:c.63C>G, NM_001321920.1:c.63C>G, NM_001321923.2:c.63C>G, NM_001321923.1:c.63C>G, NR_135847.2:n.114C>G, NR_135847.1:n.157C>G, NR_135844.2:n.114C>G, NR_135844.1:n.157C>G, NR_135852.2:n.114C>G, NR_135852.1:n.157C>G, NM_001321921.2:c.63C>G, NM_001321921.1:c.63C>G, XM_047432883.1:c.63C>G, XR_007064481.1:n.114C>G, XM_047432884.1:c.63C>G, NP_065180.1:p.Ser21Arg, XP_016877922.1:p.Ser21Arg, NP_001308851.1:p.Ser21Arg, NP_001308849.1:p.Ser21Arg, NP_001308852.1:p.Ser21Arg, NP_001308850.1:p.Ser21Arg, XP_047288839.1:p.Ser21Arg, XP_047288840.1:p.Ser21Arg

                8.

                rs1473052429 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:74906292 (GRCh38)
                  15:75198633 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:74906291:G:A
                  Gene:
                  FAM219B (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000015.10:g.74906292G>A, NC_000015.9:g.75198633G>A, NM_020447.5:c.288C>T, NM_020447.4:c.288C>T, NM_020447.3:c.288C>T, XR_243117.5:n.339C>T, XR_243117.4:n.693C>T, XR_243117.3:n.795C>T, XR_243117.2:n.647C>T, XR_243117.1:n.561C>T, XR_243118.5:n.339C>T, XR_243118.4:n.696C>T, XR_243118.3:n.795C>T, XR_243118.2:n.650C>T, XR_243118.1:n.562C>T, XM_017022433.3:c.288C>T, XM_017022433.2:c.288C>T, XM_017022433.1:c.288C>T, NR_135845.2:n.339C>T, NR_135845.1:n.382C>T, NR_135851.2:n.339C>T, NR_135851.1:n.382C>T, NR_135849.2:n.339C>T, NR_135849.1:n.382C>T, NM_001321922.2:c.288C>T, NM_001321922.1:c.288C>T, NR_135846.2:n.339C>T, NR_135846.1:n.382C>T, NR_135853.2:n.339C>T, NR_135853.1:n.382C>T, NM_001321920.2:c.288C>T, NM_001321920.1:c.288C>T, NM_001321923.2:c.288C>T, NM_001321923.1:c.288C>T, NM_001321921.2:c.288C>T, NM_001321921.1:c.288C>T, XM_047432883.1:c.288C>T, XR_007064481.1:n.339C>T, XM_047432884.1:c.288C>T

                  9.

                  rs1471222557 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    15:74906613 (GRCh38)
                    15:75198954 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:74906612:C:A
                    Gene:
                    FAM219B (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000015.10:g.74906613C>A, NC_000015.9:g.75198954C>A, NM_020447.5:c.188G>T, NM_020447.4:c.188G>T, NM_020447.3:c.188G>T, XR_243117.5:n.239G>T, XR_243117.4:n.593G>T, XR_243117.3:n.695G>T, XR_243117.2:n.547G>T, XR_243117.1:n.461G>T, XR_243118.5:n.239G>T, XR_243118.4:n.596G>T, XR_243118.3:n.695G>T, XR_243118.2:n.550G>T, XR_243118.1:n.462G>T, XM_017022433.3:c.188G>T, XM_017022433.2:c.188G>T, XM_017022433.1:c.188G>T, NR_135845.2:n.239G>T, NR_135845.1:n.282G>T, NR_135851.2:n.239G>T, NR_135851.1:n.282G>T, NR_135849.2:n.239G>T, NR_135849.1:n.282G>T, NM_001321922.2:c.188G>T, NM_001321922.1:c.188G>T, NR_135842.2:n.239G>T, NR_135842.1:n.282G>T, NR_135850.2:n.239G>T, NR_135850.1:n.282G>T, NR_135841.2:n.239G>T, NR_135841.1:n.282G>T, NR_135854.2:n.239G>T, NR_135854.1:n.282G>T, NR_135848.2:n.239G>T, NR_135848.1:n.282G>T, NR_135843.2:n.239G>T, NR_135843.1:n.282G>T, NR_135846.2:n.239G>T, NR_135846.1:n.282G>T, NR_135853.2:n.239G>T, NR_135853.1:n.282G>T, NM_001321920.2:c.188G>T, NM_001321920.1:c.188G>T, NM_001321923.2:c.188G>T, NM_001321923.1:c.188G>T, NR_135847.2:n.239G>T, NR_135847.1:n.282G>T, NR_135844.2:n.239G>T, NR_135844.1:n.282G>T, NR_135852.2:n.239G>T, NR_135852.1:n.282G>T, NM_001321921.2:c.188G>T, NM_001321921.1:c.188G>T, XM_047432883.1:c.188G>T, XR_007064481.1:n.239G>T, XM_047432884.1:c.188G>T, NP_065180.1:p.Arg63Leu, XP_016877922.1:p.Arg63Leu, NP_001308851.1:p.Arg63Leu, NP_001308849.1:p.Arg63Leu, NP_001308852.1:p.Arg63Leu, NP_001308850.1:p.Arg63Leu, XP_047288839.1:p.Arg63Leu, XP_047288840.1:p.Arg63Leu

                    10.

                    rs1465847258 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:74906281 (GRCh38)
                      15:75198622 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:74906280:T:C
                      Gene:
                      FAM219B (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000015.10:g.74906281T>C, NC_000015.9:g.75198622T>C, NM_020447.5:c.299A>G, NM_020447.4:c.299A>G, NM_020447.3:c.299A>G, XR_243117.5:n.350A>G, XR_243117.4:n.704A>G, XR_243117.3:n.806A>G, XR_243117.2:n.658A>G, XR_243117.1:n.572A>G, XR_243118.5:n.350A>G, XR_243118.4:n.707A>G, XR_243118.3:n.806A>G, XR_243118.2:n.661A>G, XR_243118.1:n.573A>G, XM_017022433.3:c.299A>G, XM_017022433.2:c.299A>G, XM_017022433.1:c.299A>G, NR_135845.2:n.350A>G, NR_135845.1:n.393A>G, NR_135851.2:n.350A>G, NR_135851.1:n.393A>G, NR_135849.2:n.350A>G, NR_135849.1:n.393A>G, NM_001321922.2:c.299A>G, NM_001321922.1:c.299A>G, NR_135846.2:n.350A>G, NR_135846.1:n.393A>G, NR_135853.2:n.350A>G, NR_135853.1:n.393A>G, NM_001321920.2:c.299A>G, NM_001321920.1:c.299A>G, NM_001321923.2:c.299A>G, NM_001321923.1:c.299A>G, NM_001321921.2:c.299A>G, NM_001321921.1:c.299A>G, XM_047432883.1:c.299A>G, XR_007064481.1:n.350A>G, XM_047432884.1:c.299A>G, NP_065180.1:p.Lys100Arg, XP_016877922.1:p.Lys100Arg, NP_001308851.1:p.Lys100Arg, NP_001308849.1:p.Lys100Arg, NP_001308852.1:p.Lys100Arg, NP_001308850.1:p.Lys100Arg, XP_047288839.1:p.Lys100Arg, XP_047288840.1:p.Lys100Arg

                      11.

                      rs1462189816 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:74904711 (GRCh38)
                        15:75197052 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:74904710:C:T
                        Gene:
                        FAM219B (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000015.10:g.74904711C>T, NC_000015.9:g.75197052C>T, NM_020447.5:c.382G>A, NM_020447.4:c.382G>A, NM_020447.3:c.382G>A, XR_243117.5:n.433G>A, XR_243117.4:n.787G>A, XR_243117.3:n.889G>A, XR_243117.2:n.741G>A, XR_243117.1:n.655G>A, XR_243118.5:n.433G>A, XR_243118.4:n.790G>A, XR_243118.3:n.889G>A, XR_243118.2:n.744G>A, XR_243118.1:n.656G>A, XM_017022433.3:c.382G>A, XM_017022433.2:c.382G>A, XM_017022433.1:c.382G>A, NR_135845.2:n.511G>A, NR_135845.1:n.554G>A, NR_135851.2:n.511G>A, NR_135851.1:n.554G>A, NR_135849.2:n.491G>A, NR_135849.1:n.534G>A, NM_001321922.2:c.382G>A, NM_001321922.1:c.382G>A, NR_135842.2:n.423G>A, NR_135842.1:n.466G>A, NR_135850.2:n.423G>A, NR_135850.1:n.466G>A, NR_135841.2:n.403G>A, NR_135841.1:n.446G>A, NR_135854.2:n.403G>A, NR_135854.1:n.446G>A, NR_135848.2:n.345G>A, NR_135848.1:n.388G>A, NR_135843.2:n.345G>A, NR_135843.1:n.388G>A, NR_135846.2:n.511G>A, NR_135846.1:n.554G>A, NR_135853.2:n.491G>A, NR_135853.1:n.534G>A, NM_001321920.2:c.382G>A, NM_001321920.1:c.382G>A, NM_001321923.2:c.382G>A, NM_001321923.1:c.382G>A, NR_135847.2:n.403G>A, NR_135847.1:n.446G>A, NR_135844.2:n.345G>A, NR_135844.1:n.388G>A, NR_135852.2:n.345G>A, NR_135852.1:n.388G>A, NM_001321921.2:c.382G>A, NM_001321921.1:c.382G>A, XM_047432883.1:c.382G>A, XR_007064481.1:n.433G>A, XM_047432884.1:c.382G>A, NP_065180.1:p.Asp128Asn, XP_016877922.1:p.Asp128Asn, NP_001308851.1:p.Asp128Asn, NP_001308849.1:p.Asp128Asn, NP_001308852.1:p.Asp128Asn, NP_001308850.1:p.Asp128Asn, XP_047288839.1:p.Asp128Asn, XP_047288840.1:p.Asp128Asn

                        12.

                        rs1454675332 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:74906340 (GRCh38)
                          15:75198681 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:74906339:G:A
                          Gene:
                          FAM219B (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000015.10:g.74906340G>A, NC_000015.9:g.75198681G>A, NM_020447.5:c.240C>T, NM_020447.4:c.240C>T, NM_020447.3:c.240C>T, XR_243117.5:n.291C>T, XR_243117.4:n.645C>T, XR_243117.3:n.747C>T, XR_243117.2:n.599C>T, XR_243117.1:n.513C>T, XR_243118.5:n.291C>T, XR_243118.4:n.648C>T, XR_243118.3:n.747C>T, XR_243118.2:n.602C>T, XR_243118.1:n.514C>T, XM_017022433.3:c.240C>T, XM_017022433.2:c.240C>T, XM_017022433.1:c.240C>T, NR_135845.2:n.291C>T, NR_135845.1:n.334C>T, NR_135851.2:n.291C>T, NR_135851.1:n.334C>T, NR_135849.2:n.291C>T, NR_135849.1:n.334C>T, NM_001321922.2:c.240C>T, NM_001321922.1:c.240C>T, NR_135846.2:n.291C>T, NR_135846.1:n.334C>T, NR_135853.2:n.291C>T, NR_135853.1:n.334C>T, NM_001321920.2:c.240C>T, NM_001321920.1:c.240C>T, NM_001321923.2:c.240C>T, NM_001321923.1:c.240C>T, NM_001321921.2:c.240C>T, NM_001321921.1:c.240C>T, XM_047432883.1:c.240C>T, XR_007064481.1:n.291C>T, XM_047432884.1:c.240C>T

                          13.

                          rs1451827953 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:74904669 (GRCh38)
                            15:75197010 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:74904668:C:T
                            Gene:
                            FAM219B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000015.10:g.74904669C>T, NC_000015.9:g.75197010C>T, NM_020447.5:c.424G>A, NM_020447.4:c.424G>A, NM_020447.3:c.424G>A, XR_243117.5:n.475G>A, XR_243117.4:n.829G>A, XR_243117.3:n.931G>A, XR_243117.2:n.783G>A, XR_243117.1:n.697G>A, XR_243118.5:n.475G>A, XR_243118.4:n.832G>A, XR_243118.3:n.931G>A, XR_243118.2:n.786G>A, XR_243118.1:n.698G>A, XM_017022433.3:c.424G>A, XM_017022433.2:c.424G>A, XM_017022433.1:c.424G>A, NR_135845.2:n.553G>A, NR_135845.1:n.596G>A, NR_135851.2:n.553G>A, NR_135851.1:n.596G>A, NR_135849.2:n.533G>A, NR_135849.1:n.576G>A, NM_001321922.2:c.424G>A, NM_001321922.1:c.424G>A, NR_135842.2:n.465G>A, NR_135842.1:n.508G>A, NR_135850.2:n.465G>A, NR_135850.1:n.508G>A, NR_135841.2:n.445G>A, NR_135841.1:n.488G>A, NR_135854.2:n.445G>A, NR_135854.1:n.488G>A, NR_135848.2:n.387G>A, NR_135848.1:n.430G>A, NR_135843.2:n.387G>A, NR_135843.1:n.430G>A, NR_135846.2:n.553G>A, NR_135846.1:n.596G>A, NR_135853.2:n.533G>A, NR_135853.1:n.576G>A, NM_001321920.2:c.424G>A, NM_001321920.1:c.424G>A, NM_001321923.2:c.424G>A, NM_001321923.1:c.424G>A, NR_135847.2:n.445G>A, NR_135847.1:n.488G>A, NR_135844.2:n.387G>A, NR_135844.1:n.430G>A, NR_135852.2:n.387G>A, NR_135852.1:n.430G>A, NM_001321921.2:c.424G>A, NM_001321921.1:c.424G>A, XM_047432883.1:c.424G>A, XR_007064481.1:n.475G>A, XM_047432884.1:c.424G>A, NP_065180.1:p.Ala142Thr, XP_016877922.1:p.Ala142Thr, NP_001308851.1:p.Ala142Thr, NP_001308849.1:p.Ala142Thr, NP_001308852.1:p.Ala142Thr, NP_001308850.1:p.Ala142Thr, XP_047288839.1:p.Ala142Thr, XP_047288840.1:p.Ala142Thr

                            14.

                            rs1450995254 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:74906605 (GRCh38)
                              15:75198946 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:74906604:A:G
                              Gene:
                              FAM219B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000015.10:g.74906605A>G, NC_000015.9:g.75198946A>G, NM_020447.5:c.196T>C, NM_020447.4:c.196T>C, NM_020447.3:c.196T>C, XR_243117.5:n.247T>C, XR_243117.4:n.601T>C, XR_243117.3:n.703T>C, XR_243117.2:n.555T>C, XR_243117.1:n.469T>C, XR_243118.5:n.247T>C, XR_243118.4:n.604T>C, XR_243118.3:n.703T>C, XR_243118.2:n.558T>C, XR_243118.1:n.470T>C, XM_017022433.3:c.196T>C, XM_017022433.2:c.196T>C, XM_017022433.1:c.196T>C, NR_135845.2:n.247T>C, NR_135845.1:n.290T>C, NR_135851.2:n.247T>C, NR_135851.1:n.290T>C, NR_135849.2:n.247T>C, NR_135849.1:n.290T>C, NM_001321922.2:c.196T>C, NM_001321922.1:c.196T>C, NR_135842.2:n.247T>C, NR_135842.1:n.290T>C, NR_135850.2:n.247T>C, NR_135850.1:n.290T>C, NR_135841.2:n.247T>C, NR_135841.1:n.290T>C, NR_135854.2:n.247T>C, NR_135854.1:n.290T>C, NR_135848.2:n.247T>C, NR_135848.1:n.290T>C, NR_135843.2:n.247T>C, NR_135843.1:n.290T>C, NR_135846.2:n.247T>C, NR_135846.1:n.290T>C, NR_135853.2:n.247T>C, NR_135853.1:n.290T>C, NM_001321920.2:c.196T>C, NM_001321920.1:c.196T>C, NM_001321923.2:c.196T>C, NM_001321923.1:c.196T>C, NR_135847.2:n.247T>C, NR_135847.1:n.290T>C, NR_135844.2:n.247T>C, NR_135844.1:n.290T>C, NR_135852.2:n.247T>C, NR_135852.1:n.290T>C, NM_001321921.2:c.196T>C, NM_001321921.1:c.196T>C, XM_047432883.1:c.196T>C, XR_007064481.1:n.247T>C, XM_047432884.1:c.196T>C, NP_065180.1:p.Ser66Pro, XP_016877922.1:p.Ser66Pro, NP_001308851.1:p.Ser66Pro, NP_001308849.1:p.Ser66Pro, NP_001308852.1:p.Ser66Pro, NP_001308850.1:p.Ser66Pro, XP_047288839.1:p.Ser66Pro, XP_047288840.1:p.Ser66Pro

                              15.

                              rs1448684708 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                15:74906759 (GRCh38)
                                15:75199100 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:74906758:A:G
                                Gene:
                                FAM219B (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000084/1 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000015.10:g.74906759A>G, NC_000015.9:g.75199100A>G, NM_020447.5:c.42T>C, NM_020447.4:c.42T>C, NM_020447.3:c.42T>C, XR_243117.5:n.93T>C, XR_243117.4:n.447T>C, XR_243117.3:n.549T>C, XR_243117.2:n.401T>C, XR_243117.1:n.315T>C, XR_243118.5:n.93T>C, XR_243118.4:n.450T>C, XR_243118.3:n.549T>C, XR_243118.2:n.404T>C, XR_243118.1:n.316T>C, XM_017022433.3:c.42T>C, XM_017022433.2:c.42T>C, XM_017022433.1:c.42T>C, NR_135845.2:n.93T>C, NR_135845.1:n.136T>C, NR_135851.2:n.93T>C, NR_135851.1:n.136T>C, NR_135849.2:n.93T>C, NR_135849.1:n.136T>C, NM_001321922.2:c.42T>C, NM_001321922.1:c.42T>C, NR_135842.2:n.93T>C, NR_135842.1:n.136T>C, NR_135850.2:n.93T>C, NR_135850.1:n.136T>C, NR_135841.2:n.93T>C, NR_135841.1:n.136T>C, NR_135854.2:n.93T>C, NR_135854.1:n.136T>C, NR_135848.2:n.93T>C, NR_135848.1:n.136T>C, NR_135843.2:n.93T>C, NR_135843.1:n.136T>C, NR_135846.2:n.93T>C, NR_135846.1:n.136T>C, NR_135853.2:n.93T>C, NR_135853.1:n.136T>C, NM_001321920.2:c.42T>C, NM_001321920.1:c.42T>C, NM_001321923.2:c.42T>C, NM_001321923.1:c.42T>C, NR_135847.2:n.93T>C, NR_135847.1:n.136T>C, NR_135844.2:n.93T>C, NR_135844.1:n.136T>C, NR_135852.2:n.93T>C, NR_135852.1:n.136T>C, NM_001321921.2:c.42T>C, NM_001321921.1:c.42T>C, XM_047432883.1:c.42T>C, XR_007064481.1:n.93T>C, XM_047432884.1:c.42T>C

                                16.

                                rs1446066943 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  15:74906296 (GRCh38)
                                  15:75198637 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:74906295:G:C
                                  Gene:
                                  FAM219B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000015.10:g.74906296G>C, NC_000015.9:g.75198637G>C, NM_020447.5:c.284C>G, NM_020447.4:c.284C>G, NM_020447.3:c.284C>G, XR_243117.5:n.335C>G, XR_243117.4:n.689C>G, XR_243117.3:n.791C>G, XR_243117.2:n.643C>G, XR_243117.1:n.557C>G, XR_243118.5:n.335C>G, XR_243118.4:n.692C>G, XR_243118.3:n.791C>G, XR_243118.2:n.646C>G, XR_243118.1:n.558C>G, XM_017022433.3:c.284C>G, XM_017022433.2:c.284C>G, XM_017022433.1:c.284C>G, NR_135845.2:n.335C>G, NR_135845.1:n.378C>G, NR_135851.2:n.335C>G, NR_135851.1:n.378C>G, NR_135849.2:n.335C>G, NR_135849.1:n.378C>G, NM_001321922.2:c.284C>G, NM_001321922.1:c.284C>G, NR_135846.2:n.335C>G, NR_135846.1:n.378C>G, NR_135853.2:n.335C>G, NR_135853.1:n.378C>G, NM_001321920.2:c.284C>G, NM_001321920.1:c.284C>G, NM_001321923.2:c.284C>G, NM_001321923.1:c.284C>G, NM_001321921.2:c.284C>G, NM_001321921.1:c.284C>G, XM_047432883.1:c.284C>G, XR_007064481.1:n.335C>G, XM_047432884.1:c.284C>G, NP_065180.1:p.Pro95Arg, XP_016877922.1:p.Pro95Arg, NP_001308851.1:p.Pro95Arg, NP_001308849.1:p.Pro95Arg, NP_001308852.1:p.Pro95Arg, NP_001308850.1:p.Pro95Arg, XP_047288839.1:p.Pro95Arg, XP_047288840.1:p.Pro95Arg

                                  17.

                                  rs1442147612 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    15:74906746 (GRCh38)
                                    15:75199087 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:74906745:G:A,NC_000015.10:74906745:G:C,NC_000015.10:74906745:G:T
                                    Gene:
                                    FAM219B (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    T=0.000035/1 (TOMMO)
                                    A=0.000038/10 (TOPMED)
                                    HGVS:
                                    NC_000015.10:g.74906746G>A, NC_000015.10:g.74906746G>C, NC_000015.10:g.74906746G>T, NC_000015.9:g.75199087G>A, NC_000015.9:g.75199087G>C, NC_000015.9:g.75199087G>T, NM_020447.5:c.55C>T, NM_020447.5:c.55C>G, NM_020447.5:c.55C>A, NM_020447.4:c.55C>T, NM_020447.4:c.55C>G, NM_020447.4:c.55C>A, NM_020447.3:c.55C>T, NM_020447.3:c.55C>G, NM_020447.3:c.55C>A, XR_243117.5:n.106C>T, XR_243117.5:n.106C>G, XR_243117.5:n.106C>A, XR_243117.4:n.460C>T, XR_243117.4:n.460C>G, XR_243117.4:n.460C>A, XR_243117.3:n.562C>T, XR_243117.3:n.562C>G, XR_243117.3:n.562C>A, XR_243117.2:n.414C>T, XR_243117.2:n.414C>G, XR_243117.2:n.414C>A, XR_243117.1:n.328C>T, XR_243117.1:n.328C>G, XR_243117.1:n.328C>A, XR_243118.5:n.106C>T, XR_243118.5:n.106C>G, XR_243118.5:n.106C>A, XR_243118.4:n.463C>T, XR_243118.4:n.463C>G, XR_243118.4:n.463C>A, XR_243118.3:n.562C>T, XR_243118.3:n.562C>G, XR_243118.3:n.562C>A, XR_243118.2:n.417C>T, XR_243118.2:n.417C>G, XR_243118.2:n.417C>A, XR_243118.1:n.329C>T, XR_243118.1:n.329C>G, XR_243118.1:n.329C>A, XM_017022433.3:c.55C>T, XM_017022433.3:c.55C>G, XM_017022433.3:c.55C>A, XM_017022433.2:c.55C>T, XM_017022433.2:c.55C>G, XM_017022433.2:c.55C>A, XM_017022433.1:c.55C>T, XM_017022433.1:c.55C>G, XM_017022433.1:c.55C>A, NR_135845.2:n.106C>T, NR_135845.2:n.106C>G, NR_135845.2:n.106C>A, NR_135845.1:n.149C>T, NR_135845.1:n.149C>G, NR_135845.1:n.149C>A, NR_135851.2:n.106C>T, NR_135851.2:n.106C>G, NR_135851.2:n.106C>A, NR_135851.1:n.149C>T, NR_135851.1:n.149C>G, NR_135851.1:n.149C>A, NR_135849.2:n.106C>T, NR_135849.2:n.106C>G, NR_135849.2:n.106C>A, NR_135849.1:n.149C>T, NR_135849.1:n.149C>G, NR_135849.1:n.149C>A, NM_001321922.2:c.55C>T, NM_001321922.2:c.55C>G, NM_001321922.2:c.55C>A, NM_001321922.1:c.55C>T, NM_001321922.1:c.55C>G, NM_001321922.1:c.55C>A, NR_135842.2:n.106C>T, NR_135842.2:n.106C>G, NR_135842.2:n.106C>A, NR_135842.1:n.149C>T, NR_135842.1:n.149C>G, NR_135842.1:n.149C>A, NR_135850.2:n.106C>T, NR_135850.2:n.106C>G, NR_135850.2:n.106C>A, NR_135850.1:n.149C>T, NR_135850.1:n.149C>G, NR_135850.1:n.149C>A, NR_135841.2:n.106C>T, NR_135841.2:n.106C>G, NR_135841.2:n.106C>A, NR_135841.1:n.149C>T, NR_135841.1:n.149C>G, NR_135841.1:n.149C>A, NR_135854.2:n.106C>T, NR_135854.2:n.106C>G, NR_135854.2:n.106C>A, NR_135854.1:n.149C>T, NR_135854.1:n.149C>G, NR_135854.1:n.149C>A, NR_135848.2:n.106C>T, NR_135848.2:n.106C>G, NR_135848.2:n.106C>A, NR_135848.1:n.149C>T, NR_135848.1:n.149C>G, NR_135848.1:n.149C>A, NR_135843.2:n.106C>T, NR_135843.2:n.106C>G, NR_135843.2:n.106C>A, NR_135843.1:n.149C>T, NR_135843.1:n.149C>G, NR_135843.1:n.149C>A, NR_135846.2:n.106C>T, NR_135846.2:n.106C>G, NR_135846.2:n.106C>A, NR_135846.1:n.149C>T, NR_135846.1:n.149C>G, NR_135846.1:n.149C>A, NR_135853.2:n.106C>T, NR_135853.2:n.106C>G, NR_135853.2:n.106C>A, NR_135853.1:n.149C>T, NR_135853.1:n.149C>G, NR_135853.1:n.149C>A, NM_001321920.2:c.55C>T, NM_001321920.2:c.55C>G, NM_001321920.2:c.55C>A, NM_001321920.1:c.55C>T, NM_001321920.1:c.55C>G, NM_001321920.1:c.55C>A, NM_001321923.2:c.55C>T, NM_001321923.2:c.55C>G, NM_001321923.2:c.55C>A, NM_001321923.1:c.55C>T, NM_001321923.1:c.55C>G, NM_001321923.1:c.55C>A, NR_135847.2:n.106C>T, NR_135847.2:n.106C>G, NR_135847.2:n.106C>A, NR_135847.1:n.149C>T, NR_135847.1:n.149C>G, NR_135847.1:n.149C>A, NR_135844.2:n.106C>T, NR_135844.2:n.106C>G, NR_135844.2:n.106C>A, NR_135844.1:n.149C>T, NR_135844.1:n.149C>G, NR_135844.1:n.149C>A, NR_135852.2:n.106C>T, NR_135852.2:n.106C>G, NR_135852.2:n.106C>A, NR_135852.1:n.149C>T, NR_135852.1:n.149C>G, NR_135852.1:n.149C>A, NM_001321921.2:c.55C>T, NM_001321921.2:c.55C>G, NM_001321921.2:c.55C>A, NM_001321921.1:c.55C>T, NM_001321921.1:c.55C>G, NM_001321921.1:c.55C>A, XM_047432883.1:c.55C>T, XM_047432883.1:c.55C>G, XM_047432883.1:c.55C>A, XR_007064481.1:n.106C>T, XR_007064481.1:n.106C>G, XR_007064481.1:n.106C>A, XM_047432884.1:c.55C>T, XM_047432884.1:c.55C>G, XM_047432884.1:c.55C>A, NP_065180.1:p.Arg19Trp, NP_065180.1:p.Arg19Gly, XP_016877922.1:p.Arg19Trp, XP_016877922.1:p.Arg19Gly, NP_001308851.1:p.Arg19Trp, NP_001308851.1:p.Arg19Gly, NP_001308849.1:p.Arg19Trp, NP_001308849.1:p.Arg19Gly, NP_001308852.1:p.Arg19Trp, NP_001308852.1:p.Arg19Gly, NP_001308850.1:p.Arg19Trp, NP_001308850.1:p.Arg19Gly, XP_047288839.1:p.Arg19Trp, XP_047288839.1:p.Arg19Gly, XP_047288840.1:p.Arg19Trp, XP_047288840.1:p.Arg19Gly

                                    18.

                                    rs1438222352 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:74902769 (GRCh38)
                                      15:75195110 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:74902768:C:T
                                      Gene:
                                      FAM219B (Varview)
                                      Functional Consequence:
                                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000015.10:g.74902769C>T, NC_000015.9:g.75195110C>T, NM_020447.5:c.447G>A, NM_020447.4:c.447G>A, NM_020447.3:c.447G>A, XR_243117.5:n.498G>A, XR_243117.4:n.852G>A, XR_243117.3:n.954G>A, XR_243117.2:n.806G>A, XR_243117.1:n.720G>A, XR_243118.5:n.498G>A, XR_243118.4:n.855G>A, XR_243118.3:n.954G>A, XR_243118.2:n.809G>A, XR_243118.1:n.721G>A, XM_017022433.3:c.444G>A, XM_017022433.2:c.444G>A, XM_017022433.1:c.444G>A, NR_135845.2:n.576G>A, NR_135845.1:n.619G>A, NR_135851.2:n.573G>A, NR_135851.1:n.616G>A, NR_135849.2:n.556G>A, NR_135849.1:n.599G>A, NM_001321922.2:c.444G>A, NM_001321922.1:c.444G>A, NR_135842.2:n.488G>A, NR_135842.1:n.531G>A, NR_135850.2:n.485G>A, NR_135850.1:n.528G>A, NR_135841.2:n.468G>A, NR_135841.1:n.511G>A, NR_135854.2:n.465G>A, NR_135854.1:n.508G>A, NR_135848.2:n.410G>A, NR_135848.1:n.453G>A, NR_135843.2:n.407G>A, NR_135843.1:n.450G>A, NR_135846.2:n.576G>A, NR_135846.1:n.619G>A, NR_135853.2:n.556G>A, NR_135853.1:n.599G>A, NM_001321920.2:c.447G>A, NM_001321920.1:c.447G>A, NM_001321923.2:c.444G>A, NM_001321923.1:c.444G>A, NR_135847.2:n.465G>A, NR_135847.1:n.508G>A, NR_135844.2:n.410G>A, NR_135844.1:n.453G>A, NR_135852.2:n.407G>A, NR_135852.1:n.450G>A, NM_001321921.2:c.447G>A, NM_001321921.1:c.447G>A, XM_047432883.1:c.447G>A, XR_007064481.1:n.495G>A, XM_047432884.1:c.444G>A

                                      19.

                                      rs1432881925 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        15:74902775 (GRCh38)
                                        15:75195116 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:74902774:C:G
                                        Gene:
                                        FAM219B (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (GnomAD_exomes)
                                        G=0.000011/3 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000015.10:g.74902775C>G, NC_000015.9:g.75195116C>G, NM_020447.5:c.441G>C, NM_020447.4:c.441G>C, NM_020447.3:c.441G>C, XR_243117.5:n.492G>C, XR_243117.4:n.846G>C, XR_243117.3:n.948G>C, XR_243117.2:n.800G>C, XR_243117.1:n.714G>C, XR_243118.5:n.492G>C, XR_243118.4:n.849G>C, XR_243118.3:n.948G>C, XR_243118.2:n.803G>C, XR_243118.1:n.715G>C, XM_017022433.3:c.438G>C, XM_017022433.2:c.438G>C, XM_017022433.1:c.438G>C, NR_135845.2:n.570G>C, NR_135845.1:n.613G>C, NR_135851.2:n.567G>C, NR_135851.1:n.610G>C, NR_135849.2:n.550G>C, NR_135849.1:n.593G>C, NM_001321922.2:c.438G>C, NM_001321922.1:c.438G>C, NR_135842.2:n.482G>C, NR_135842.1:n.525G>C, NR_135850.2:n.479G>C, NR_135850.1:n.522G>C, NR_135841.2:n.462G>C, NR_135841.1:n.505G>C, NR_135854.2:n.459G>C, NR_135854.1:n.502G>C, NR_135848.2:n.404G>C, NR_135848.1:n.447G>C, NR_135843.2:n.401G>C, NR_135843.1:n.444G>C, NR_135846.2:n.570G>C, NR_135846.1:n.613G>C, NR_135853.2:n.550G>C, NR_135853.1:n.593G>C, NM_001321920.2:c.441G>C, NM_001321920.1:c.441G>C, NM_001321923.2:c.438G>C, NM_001321923.1:c.438G>C, NR_135847.2:n.459G>C, NR_135847.1:n.502G>C, NR_135844.2:n.404G>C, NR_135844.1:n.447G>C, NR_135852.2:n.401G>C, NR_135852.1:n.444G>C, NM_001321921.2:c.441G>C, NM_001321921.1:c.441G>C, XM_047432883.1:c.441G>C, XR_007064481.1:n.489G>C, XM_047432884.1:c.438G>C, NP_065180.1:p.Gln147His, XP_016877922.1:p.Gln146His, NP_001308851.1:p.Gln146His, NP_001308849.1:p.Gln147His, NP_001308852.1:p.Gln146His, NP_001308850.1:p.Gln147His, XP_047288839.1:p.Gln147His, XP_047288840.1:p.Gln146His

                                        20.

                                        rs1427192602 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          15:74906695 (GRCh38)
                                          15:75199036 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:74906694:C:T
                                          Gene:
                                          FAM219B (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000015/4 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000015.10:g.74906695C>T, NC_000015.9:g.75199036C>T, NM_020447.5:c.106G>A, NM_020447.4:c.106G>A, NM_020447.3:c.106G>A, XR_243117.5:n.157G>A, XR_243117.4:n.511G>A, XR_243117.3:n.613G>A, XR_243117.2:n.465G>A, XR_243117.1:n.379G>A, XR_243118.5:n.157G>A, XR_243118.4:n.514G>A, XR_243118.3:n.613G>A, XR_243118.2:n.468G>A, XR_243118.1:n.380G>A, XM_017022433.3:c.106G>A, XM_017022433.2:c.106G>A, XM_017022433.1:c.106G>A, NR_135845.2:n.157G>A, NR_135845.1:n.200G>A, NR_135851.2:n.157G>A, NR_135851.1:n.200G>A, NR_135849.2:n.157G>A, NR_135849.1:n.200G>A, NM_001321922.2:c.106G>A, NM_001321922.1:c.106G>A, NR_135842.2:n.157G>A, NR_135842.1:n.200G>A, NR_135850.2:n.157G>A, NR_135850.1:n.200G>A, NR_135841.2:n.157G>A, NR_135841.1:n.200G>A, NR_135854.2:n.157G>A, NR_135854.1:n.200G>A, NR_135848.2:n.157G>A, NR_135848.1:n.200G>A, NR_135843.2:n.157G>A, NR_135843.1:n.200G>A, NR_135846.2:n.157G>A, NR_135846.1:n.200G>A, NR_135853.2:n.157G>A, NR_135853.1:n.200G>A, NM_001321920.2:c.106G>A, NM_001321920.1:c.106G>A, NM_001321923.2:c.106G>A, NM_001321923.1:c.106G>A, NR_135847.2:n.157G>A, NR_135847.1:n.200G>A, NR_135844.2:n.157G>A, NR_135844.1:n.200G>A, NR_135852.2:n.157G>A, NR_135852.1:n.200G>A, NM_001321921.2:c.106G>A, NM_001321921.1:c.106G>A, XM_047432883.1:c.106G>A, XR_007064481.1:n.157G>A, XM_047432884.1:c.106G>A, NP_065180.1:p.Gly36Arg, XP_016877922.1:p.Gly36Arg, NP_001308851.1:p.Gly36Arg, NP_001308849.1:p.Gly36Arg, NP_001308852.1:p.Gly36Arg, NP_001308850.1:p.Gly36Arg, XP_047288839.1:p.Gly36Arg, XP_047288840.1:p.Gly36Arg

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...