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 469

1.

rs1488975648 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    5:151467922 (GRCh38)
    5:150847483 (GRCh37)
    Canonical SPDI:
    NC_000005.10:151467921:T:G
    Gene:
    SLC36A1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.151467922T>G, NC_000005.9:g.150847483T>G, XM_006714759.5:c.486T>G, XM_006714759.4:c.486T>G, XM_006714759.3:c.486T>G, XM_006714759.2:c.486T>G, XM_006714759.1:c.486T>G, NM_078483.4:c.720T>G, NM_078483.3:c.720T>G, NM_078483.2:c.720T>G, XM_011537589.4:c.720T>G, XM_011537589.3:c.720T>G, XM_011537589.2:c.720T>G, XM_011537589.1:c.720T>G, XM_011537587.4:c.720T>G, XM_011537587.3:c.720T>G, XM_011537587.2:c.720T>G, XM_011537587.1:c.720T>G, XM_011537580.3:c.738T>G, XM_011537580.2:c.738T>G, XM_011537580.1:c.738T>G, XM_011537595.3:c.813T>G, XM_011537595.2:c.738T>G, XM_011537595.1:c.813T>G, XM_011537592.3:c.720T>G, XM_011537592.2:c.720T>G, XM_011537592.1:c.720T>G, XM_011537584.3:c.720T>G, XM_011537584.2:c.720T>G, XM_011537584.1:c.720T>G, XM_011537586.3:c.720T>G, XM_011537586.2:c.720T>G, XM_011537586.1:c.720T>G, XM_011537596.3:c.813T>G, XM_011537596.2:c.720T>G, XM_011537596.1:c.813T>G, XM_011537581.2:c.720T>G, XM_011537581.1:c.720T>G, NM_001349740.2:c.636T>G, NM_001349740.1:c.636T>G, XM_011537591.2:c.720T>G, XM_011537591.1:c.720T>G, XM_011537590.2:c.720T>G, XM_011537590.1:c.720T>G, XM_017009216.2:c.720T>G, XM_017009216.1:c.720T>G, XM_017009217.2:c.720T>G, XM_017009217.1:c.720T>G, NM_001308150.2:c.720T>G, NM_001308150.1:c.720T>G, NM_001308151.2:c.720T>G, NM_001308151.1:c.720T>G, XM_047416927.1:c.813T>G, XM_047416928.1:c.738T>G, XM_047416920.1:c.813T>G, XM_047416925.1:c.813T>G, XM_011537585.1:c.720T>G, XM_047416921.1:c.720T>G, XM_047416923.1:c.720T>G, XM_047416924.1:c.720T>G, XM_047416929.1:c.813T>G

    2.

    rs1485209103 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      5:151463568 (GRCh38)
      5:150843129 (GRCh37)
      Canonical SPDI:
      NC_000005.10:151463567:G:A,NC_000005.10:151463567:G:C
      Gene:
      SLC36A1 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,synonymous_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      NC_000005.10:g.151463568G>A, NC_000005.10:g.151463568G>C, NC_000005.9:g.150843129G>A, NC_000005.9:g.150843129G>C, XM_006714759.5:c.-122G>A, XM_006714759.5:c.-122G>C, XM_006714759.4:c.-122G>A, XM_006714759.4:c.-122G>C, XM_006714759.3:c.-122G>A, XM_006714759.3:c.-122G>C, NM_078483.4:c.159G>A, NM_078483.4:c.159G>C, NM_078483.3:c.159G>A, NM_078483.3:c.159G>C, NM_078483.2:c.159G>A, NM_078483.2:c.159G>C, XM_011537589.4:c.159G>A, XM_011537589.4:c.159G>C, XM_011537589.3:c.159G>A, XM_011537589.3:c.159G>C, XM_011537589.2:c.159G>A, XM_011537589.2:c.159G>C, XM_011537589.1:c.159G>A, XM_011537589.1:c.159G>C, XM_011537587.4:c.159G>A, XM_011537587.4:c.159G>C, XM_011537587.3:c.159G>A, XM_011537587.3:c.159G>C, XM_011537587.2:c.159G>A, XM_011537587.2:c.159G>C, XM_011537587.1:c.159G>A, XM_011537587.1:c.159G>C, XM_011537580.3:c.177G>A, XM_011537580.3:c.177G>C, XM_011537580.2:c.177G>A, XM_011537580.2:c.177G>C, XM_011537580.1:c.177G>A, XM_011537580.1:c.177G>C, XM_011537595.3:c.252G>A, XM_011537595.3:c.252G>C, XM_011537595.2:c.177G>A, XM_011537595.2:c.177G>C, XM_011537595.1:c.252G>A, XM_011537595.1:c.252G>C, XM_011537592.3:c.159G>A, XM_011537592.3:c.159G>C, XM_011537592.2:c.159G>A, XM_011537592.2:c.159G>C, XM_011537592.1:c.159G>A, XM_011537592.1:c.159G>C, XM_011537584.3:c.159G>A, XM_011537584.3:c.159G>C, XM_011537584.2:c.159G>A, XM_011537584.2:c.159G>C, XM_011537584.1:c.159G>A, XM_011537584.1:c.159G>C, XM_011537586.3:c.159G>A, XM_011537586.3:c.159G>C, XM_011537586.2:c.159G>A, XM_011537586.2:c.159G>C, XM_011537586.1:c.159G>A, XM_011537586.1:c.159G>C, XM_011537596.3:c.252G>A, XM_011537596.3:c.252G>C, XM_011537596.2:c.159G>A, XM_011537596.2:c.159G>C, XM_011537596.1:c.252G>A, XM_011537596.1:c.252G>C, XM_011537581.2:c.159G>A, XM_011537581.2:c.159G>C, XM_011537581.1:c.159G>A, XM_011537581.1:c.159G>C, NM_001349740.2:c.16G>A, NM_001349740.2:c.16G>C, NM_001349740.1:c.16G>A, NM_001349740.1:c.16G>C, XM_011537591.2:c.159G>A, XM_011537591.2:c.159G>C, XM_011537591.1:c.159G>A, XM_011537591.1:c.159G>C, XM_011537590.2:c.159G>A, XM_011537590.2:c.159G>C, XM_011537590.1:c.159G>A, XM_011537590.1:c.159G>C, XM_017009216.2:c.159G>A, XM_017009216.2:c.159G>C, XM_017009216.1:c.159G>A, XM_017009216.1:c.159G>C, XM_017009217.2:c.159G>A, XM_017009217.2:c.159G>C, XM_017009217.1:c.159G>A, XM_017009217.1:c.159G>C, NM_001308150.2:c.159G>A, NM_001308150.2:c.159G>C, NM_001308150.1:c.159G>A, NM_001308150.1:c.159G>C, NM_001308151.2:c.159G>A, NM_001308151.2:c.159G>C, NM_001308151.1:c.159G>A, NM_001308151.1:c.159G>C, XM_047416927.1:c.252G>A, XM_047416927.1:c.252G>C, XM_047416928.1:c.177G>A, XM_047416928.1:c.177G>C, XM_047416920.1:c.252G>A, XM_047416920.1:c.252G>C, XM_047416925.1:c.252G>A, XM_047416925.1:c.252G>C, XM_011537585.1:c.159G>A, XM_011537585.1:c.159G>C, XM_047416921.1:c.159G>A, XM_047416921.1:c.159G>C, XM_047416923.1:c.159G>A, XM_047416923.1:c.159G>C, XM_047416924.1:c.159G>A, XM_047416924.1:c.159G>C, XM_047416929.1:c.252G>A, XM_047416929.1:c.252G>C, NP_510968.2:p.Leu53Phe, XP_011535891.1:p.Leu53Phe, XP_011535889.1:p.Leu53Phe, XP_011535882.1:p.Leu59Phe, XP_011535897.3:p.Leu84Phe, XP_011535894.1:p.Leu53Phe, XP_011535886.1:p.Leu53Phe, XP_011535888.1:p.Leu53Phe, XP_011535898.3:p.Leu84Phe, XP_011535883.1:p.Leu53Phe, NP_001336669.1:p.Asp6Asn, NP_001336669.1:p.Asp6His, XP_011535893.1:p.Leu53Phe, XP_011535892.1:p.Leu53Phe, XP_016864705.1:p.Leu53Phe, XP_016864706.1:p.Leu53Phe, NP_001295079.1:p.Leu53Phe, NP_001295080.1:p.Leu53Phe, XP_047272883.1:p.Leu84Phe, XP_047272884.1:p.Leu59Phe, XP_047272876.1:p.Leu84Phe, XP_047272881.1:p.Leu84Phe, XP_011535887.1:p.Leu53Phe, XP_047272877.1:p.Leu53Phe, XP_047272879.1:p.Leu53Phe, XP_047272880.1:p.Leu53Phe, XP_047272885.1:p.Leu84Phe

      3.

      rs1482121272 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        5:151464535 (GRCh38)
        5:150844096 (GRCh37)
        Canonical SPDI:
        NC_000005.10:151464534:A:G,NC_000005.10:151464534:A:T
        Gene:
        SLC36A1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000005.10:g.151464535A>G, NC_000005.10:g.151464535A>T, NC_000005.9:g.150844096A>G, NC_000005.9:g.150844096A>T, XM_006714759.5:c.22A>G, XM_006714759.5:c.22A>T, XM_006714759.4:c.22A>G, XM_006714759.4:c.22A>T, XM_006714759.3:c.22A>G, XM_006714759.3:c.22A>T, XM_006714759.2:c.22A>G, XM_006714759.2:c.22A>T, XM_006714759.1:c.22A>G, XM_006714759.1:c.22A>T, NM_078483.4:c.256A>G, NM_078483.4:c.256A>T, NM_078483.3:c.256A>G, NM_078483.3:c.256A>T, NM_078483.2:c.256A>G, NM_078483.2:c.256A>T, XM_011537589.4:c.256A>G, XM_011537589.4:c.256A>T, XM_011537589.3:c.256A>G, XM_011537589.3:c.256A>T, XM_011537589.2:c.256A>G, XM_011537589.2:c.256A>T, XM_011537589.1:c.256A>G, XM_011537589.1:c.256A>T, XM_011537587.4:c.256A>G, XM_011537587.4:c.256A>T, XM_011537587.3:c.256A>G, XM_011537587.3:c.256A>T, XM_011537587.2:c.256A>G, XM_011537587.2:c.256A>T, XM_011537587.1:c.256A>G, XM_011537587.1:c.256A>T, XM_011537580.3:c.274A>G, XM_011537580.3:c.274A>T, XM_011537580.2:c.274A>G, XM_011537580.2:c.274A>T, XM_011537580.1:c.274A>G, XM_011537580.1:c.274A>T, XM_011537595.3:c.349A>G, XM_011537595.3:c.349A>T, XM_011537595.2:c.274A>G, XM_011537595.2:c.274A>T, XM_011537595.1:c.349A>G, XM_011537595.1:c.349A>T, XM_011537592.3:c.256A>G, XM_011537592.3:c.256A>T, XM_011537592.2:c.256A>G, XM_011537592.2:c.256A>T, XM_011537592.1:c.256A>G, XM_011537592.1:c.256A>T, XM_011537584.3:c.256A>G, XM_011537584.3:c.256A>T, XM_011537584.2:c.256A>G, XM_011537584.2:c.256A>T, XM_011537584.1:c.256A>G, XM_011537584.1:c.256A>T, XM_011537586.3:c.256A>G, XM_011537586.3:c.256A>T, XM_011537586.2:c.256A>G, XM_011537586.2:c.256A>T, XM_011537586.1:c.256A>G, XM_011537586.1:c.256A>T, XM_011537596.3:c.349A>G, XM_011537596.3:c.349A>T, XM_011537596.2:c.256A>G, XM_011537596.2:c.256A>T, XM_011537596.1:c.349A>G, XM_011537596.1:c.349A>T, XM_011537581.2:c.256A>G, XM_011537581.2:c.256A>T, XM_011537581.1:c.256A>G, XM_011537581.1:c.256A>T, NM_001349740.2:c.172A>G, NM_001349740.2:c.172A>T, NM_001349740.1:c.172A>G, NM_001349740.1:c.172A>T, XM_011537591.2:c.256A>G, XM_011537591.2:c.256A>T, XM_011537591.1:c.256A>G, XM_011537591.1:c.256A>T, XM_011537590.2:c.256A>G, XM_011537590.2:c.256A>T, XM_011537590.1:c.256A>G, XM_011537590.1:c.256A>T, XM_017009216.2:c.256A>G, XM_017009216.2:c.256A>T, XM_017009216.1:c.256A>G, XM_017009216.1:c.256A>T, XM_017009217.2:c.256A>G, XM_017009217.2:c.256A>T, XM_017009217.1:c.256A>G, XM_017009217.1:c.256A>T, NM_001308150.2:c.256A>G, NM_001308150.2:c.256A>T, NM_001308150.1:c.256A>G, NM_001308150.1:c.256A>T, NM_001308151.2:c.256A>G, NM_001308151.2:c.256A>T, NM_001308151.1:c.256A>G, NM_001308151.1:c.256A>T, XM_047416927.1:c.349A>G, XM_047416927.1:c.349A>T, XM_047416928.1:c.274A>G, XM_047416928.1:c.274A>T, XM_047416920.1:c.349A>G, XM_047416920.1:c.349A>T, XM_047416925.1:c.349A>G, XM_047416925.1:c.349A>T, XM_011537585.1:c.256A>G, XM_011537585.1:c.256A>T, XM_047416921.1:c.256A>G, XM_047416921.1:c.256A>T, XM_047416923.1:c.256A>G, XM_047416923.1:c.256A>T, XM_047416924.1:c.256A>G, XM_047416924.1:c.256A>T, XM_047416929.1:c.349A>G, XM_047416929.1:c.349A>T, XP_006714822.1:p.Ile8Val, XP_006714822.1:p.Ile8Phe, NP_510968.2:p.Ile86Val, NP_510968.2:p.Ile86Phe, XP_011535891.1:p.Ile86Val, XP_011535891.1:p.Ile86Phe, XP_011535889.1:p.Ile86Val, XP_011535889.1:p.Ile86Phe, XP_011535882.1:p.Ile92Val, XP_011535882.1:p.Ile92Phe, XP_011535897.3:p.Ile117Val, XP_011535897.3:p.Ile117Phe, XP_011535894.1:p.Ile86Val, XP_011535894.1:p.Ile86Phe, XP_011535886.1:p.Ile86Val, XP_011535886.1:p.Ile86Phe, XP_011535888.1:p.Ile86Val, XP_011535888.1:p.Ile86Phe, XP_011535898.3:p.Ile117Val, XP_011535898.3:p.Ile117Phe, XP_011535883.1:p.Ile86Val, XP_011535883.1:p.Ile86Phe, NP_001336669.1:p.Ile58Val, NP_001336669.1:p.Ile58Phe, XP_011535893.1:p.Ile86Val, XP_011535893.1:p.Ile86Phe, XP_011535892.1:p.Ile86Val, XP_011535892.1:p.Ile86Phe, XP_016864705.1:p.Ile86Val, XP_016864705.1:p.Ile86Phe, XP_016864706.1:p.Ile86Val, XP_016864706.1:p.Ile86Phe, NP_001295079.1:p.Ile86Val, NP_001295079.1:p.Ile86Phe, NP_001295080.1:p.Ile86Val, NP_001295080.1:p.Ile86Phe, XP_047272883.1:p.Ile117Val, XP_047272883.1:p.Ile117Phe, XP_047272884.1:p.Ile92Val, XP_047272884.1:p.Ile92Phe, XP_047272876.1:p.Ile117Val, XP_047272876.1:p.Ile117Phe, XP_047272881.1:p.Ile117Val, XP_047272881.1:p.Ile117Phe, XP_011535887.1:p.Ile86Val, XP_011535887.1:p.Ile86Phe, XP_047272877.1:p.Ile86Val, XP_047272877.1:p.Ile86Phe, XP_047272879.1:p.Ile86Val, XP_047272879.1:p.Ile86Phe, XP_047272880.1:p.Ile86Val, XP_047272880.1:p.Ile86Phe, XP_047272885.1:p.Ile117Val, XP_047272885.1:p.Ile117Phe

        4.

        rs1478599255 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:151467855 (GRCh38)
          5:150847416 (GRCh37)
          Canonical SPDI:
          NC_000005.10:151467854:C:T
          Gene:
          SLC36A1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000005.10:g.151467855C>T, NC_000005.9:g.150847416C>T, XM_006714759.5:c.419C>T, XM_006714759.4:c.419C>T, XM_006714759.3:c.419C>T, XM_006714759.2:c.419C>T, XM_006714759.1:c.419C>T, NM_078483.4:c.653C>T, NM_078483.3:c.653C>T, NM_078483.2:c.653C>T, XM_011537589.4:c.653C>T, XM_011537589.3:c.653C>T, XM_011537589.2:c.653C>T, XM_011537589.1:c.653C>T, XM_011537587.4:c.653C>T, XM_011537587.3:c.653C>T, XM_011537587.2:c.653C>T, XM_011537587.1:c.653C>T, XM_011537580.3:c.671C>T, XM_011537580.2:c.671C>T, XM_011537580.1:c.671C>T, XM_011537595.3:c.746C>T, XM_011537595.2:c.671C>T, XM_011537595.1:c.746C>T, XM_011537592.3:c.653C>T, XM_011537592.2:c.653C>T, XM_011537592.1:c.653C>T, XM_011537584.3:c.653C>T, XM_011537584.2:c.653C>T, XM_011537584.1:c.653C>T, XM_011537586.3:c.653C>T, XM_011537586.2:c.653C>T, XM_011537586.1:c.653C>T, XM_011537596.3:c.746C>T, XM_011537596.2:c.653C>T, XM_011537596.1:c.746C>T, XM_011537581.2:c.653C>T, XM_011537581.1:c.653C>T, NM_001349740.2:c.569C>T, NM_001349740.1:c.569C>T, XM_011537591.2:c.653C>T, XM_011537591.1:c.653C>T, XM_011537590.2:c.653C>T, XM_011537590.1:c.653C>T, XM_017009216.2:c.653C>T, XM_017009216.1:c.653C>T, XM_017009217.2:c.653C>T, XM_017009217.1:c.653C>T, NM_001308150.2:c.653C>T, NM_001308150.1:c.653C>T, NM_001308151.2:c.653C>T, NM_001308151.1:c.653C>T, XM_047416927.1:c.746C>T, XM_047416928.1:c.671C>T, XM_047416920.1:c.746C>T, XM_047416925.1:c.746C>T, XM_011537585.1:c.653C>T, XM_047416921.1:c.653C>T, XM_047416923.1:c.653C>T, XM_047416924.1:c.653C>T, XM_047416929.1:c.746C>T, XP_006714822.1:p.Ser140Phe, NP_510968.2:p.Ser218Phe, XP_011535891.1:p.Ser218Phe, XP_011535889.1:p.Ser218Phe, XP_011535882.1:p.Ser224Phe, XP_011535897.3:p.Ser249Phe, XP_011535894.1:p.Ser218Phe, XP_011535886.1:p.Ser218Phe, XP_011535888.1:p.Ser218Phe, XP_011535898.3:p.Ser249Phe, XP_011535883.1:p.Ser218Phe, NP_001336669.1:p.Ser190Phe, XP_011535893.1:p.Ser218Phe, XP_011535892.1:p.Ser218Phe, XP_016864705.1:p.Ser218Phe, XP_016864706.1:p.Ser218Phe, NP_001295079.1:p.Ser218Phe, NP_001295080.1:p.Ser218Phe, XP_047272883.1:p.Ser249Phe, XP_047272884.1:p.Ser224Phe, XP_047272876.1:p.Ser249Phe, XP_047272881.1:p.Ser249Phe, XP_011535887.1:p.Ser218Phe, XP_047272877.1:p.Ser218Phe, XP_047272879.1:p.Ser218Phe, XP_047272880.1:p.Ser218Phe, XP_047272885.1:p.Ser249Phe

          5.

          rs1478275292 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CTT>- [Show Flanks]
            Chromosome:
            5:151473732 (GRCh38)
            5:150853293 (GRCh37)
            Canonical SPDI:
            NC_000005.10:151473727:TCTTCTT:TCTT
            Gene:
            SLC36A1 (Varview)
            Functional Consequence:
            inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            -=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.151473729CTT[1], NC_000005.9:g.150853290CTT[1], XM_006714759.5:c.546CTT[1], XM_006714759.4:c.546CTT[1], XM_006714759.3:c.546CTT[1], XM_006714759.2:c.546CTT[1], XM_006714759.1:c.546CTT[1], NM_078483.4:c.780CTT[1], NM_078483.3:c.780CTT[1], NM_078483.2:c.780CTT[1], XM_011537589.4:c.780CTT[1], XM_011537589.3:c.780CTT[1], XM_011537589.2:c.780CTT[1], XM_011537589.1:c.780CTT[1], XM_011537587.4:c.780CTT[1], XM_011537587.3:c.780CTT[1], XM_011537587.2:c.780CTT[1], XM_011537587.1:c.780CTT[1], XM_011537580.3:c.798CTT[1], XM_011537580.2:c.798CTT[1], XM_011537580.1:c.798CTT[1], XM_011537595.3:c.873CTT[1], XM_011537595.2:c.798CTT[1], XM_011537595.1:c.873CTT[1], XM_011537592.3:c.780CTT[1], XM_011537592.2:c.780CTT[1], XM_011537592.1:c.780CTT[1], XM_011537584.3:c.780CTT[1], XM_011537584.2:c.780CTT[1], XM_011537584.1:c.780CTT[1], XM_011537586.3:c.780CTT[1], XM_011537586.2:c.780CTT[1], XM_011537586.1:c.780CTT[1], XM_011537581.2:c.780CTT[1], XM_011537581.1:c.780CTT[1], NM_001349740.2:c.696CTT[1], NM_001349740.1:c.696CTT[1], XM_011537591.2:c.780CTT[1], XM_011537591.1:c.780CTT[1], XM_011537590.2:c.780CTT[1], XM_011537590.1:c.780CTT[1], XM_017009216.2:c.780CTT[1], XM_017009216.1:c.780CTT[1], XM_017009217.2:c.780CTT[1], XM_017009217.1:c.780CTT[1], NM_001308150.2:c.780CTT[1], NM_001308150.1:c.780CTT[1], XM_047416927.1:c.873CTT[1], XM_047416928.1:c.798CTT[1], XM_047416920.1:c.873CTT[1], XM_047416925.1:c.873CTT[1], XM_011537585.1:c.780CTT[1], XM_047416921.1:c.780CTT[1], XM_047416923.1:c.780CTT[1], XM_047416924.1:c.780CTT[1], XP_006714822.1:p.Phe184del, NP_510968.2:p.Phe262del, XP_011535891.1:p.Phe262del, XP_011535889.1:p.Phe262del, XP_011535882.1:p.Phe268del, XP_011535897.3:p.Phe293del, XP_011535894.1:p.Phe262del, XP_011535886.1:p.Phe262del, XP_011535888.1:p.Phe262del, XP_011535883.1:p.Phe262del, NP_001336669.1:p.Phe234del, XP_011535893.1:p.Phe262del, XP_011535892.1:p.Phe262del, XP_016864705.1:p.Phe262del, XP_016864706.1:p.Phe262del, NP_001295079.1:p.Phe262del, XP_047272883.1:p.Phe293del, XP_047272884.1:p.Phe268del, XP_047272876.1:p.Phe293del, XP_047272881.1:p.Phe293del, XP_011535887.1:p.Phe262del, XP_047272877.1:p.Phe262del, XP_047272879.1:p.Phe262del, XP_047272880.1:p.Phe262del

            6.

            rs1477636707 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>- [Show Flanks]
              Chromosome:
              5:151467239 (GRCh38)
              5:150846800 (GRCh37)
              Canonical SPDI:
              NC_000005.10:151467238:TT:T
              Gene:
              SLC36A1 (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant
              Validated:
              by frequency
              MAF:
              -=0.000016/4 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.151467240del, NC_000005.9:g.150846801del, XM_006714759.5:c.227del, XM_006714759.4:c.227del, XM_006714759.3:c.227del, XM_006714759.2:c.227del, XM_006714759.1:c.227del, NM_078483.4:c.461del, NM_078483.3:c.461del, NM_078483.2:c.461del, XM_011537589.4:c.461del, XM_011537589.3:c.461del, XM_011537589.2:c.461del, XM_011537589.1:c.461del, XM_011537587.4:c.461del, XM_011537587.3:c.461del, XM_011537587.2:c.461del, XM_011537587.1:c.461del, XM_011537580.3:c.479del, XM_011537580.2:c.479del, XM_011537580.1:c.479del, XM_011537595.3:c.554del, XM_011537595.2:c.479del, XM_011537595.1:c.554del, XM_011537592.3:c.461del, XM_011537592.2:c.461del, XM_011537592.1:c.461del, XM_011537584.3:c.461del, XM_011537584.2:c.461del, XM_011537584.1:c.461del, XM_011537586.3:c.461del, XM_011537586.2:c.461del, XM_011537586.1:c.461del, XM_011537596.3:c.554del, XM_011537596.2:c.461del, XM_011537596.1:c.554del, XM_011537581.2:c.461del, XM_011537581.1:c.461del, NM_001349740.2:c.377del, NM_001349740.1:c.377del, XM_011537591.2:c.461del, XM_011537591.1:c.461del, XM_011537590.2:c.461del, XM_011537590.1:c.461del, XM_017009216.2:c.461del, XM_017009216.1:c.461del, XM_017009217.2:c.461del, XM_017009217.1:c.461del, NM_001308150.2:c.461del, NM_001308150.1:c.461del, NM_001308151.2:c.461del, NM_001308151.1:c.461del, XM_047416927.1:c.554del, XM_047416928.1:c.479del, XM_047416920.1:c.554del, XM_047416925.1:c.554del, XM_011537585.1:c.461del, XM_047416921.1:c.461del, XM_047416923.1:c.461del, XM_047416924.1:c.461del, XM_047416929.1:c.554del, XP_006714822.1:p.Phe76fs, NP_510968.2:p.Phe154fs, XP_011535891.1:p.Phe154fs, XP_011535889.1:p.Phe154fs, XP_011535882.1:p.Phe160fs, XP_011535897.3:p.Phe185fs, XP_011535894.1:p.Phe154fs, XP_011535886.1:p.Phe154fs, XP_011535888.1:p.Phe154fs, XP_011535898.3:p.Phe185fs, XP_011535883.1:p.Phe154fs, NP_001336669.1:p.Phe126fs, XP_011535893.1:p.Phe154fs, XP_011535892.1:p.Phe154fs, XP_016864705.1:p.Phe154fs, XP_016864706.1:p.Phe154fs, NP_001295079.1:p.Phe154fs, NP_001295080.1:p.Phe154fs, XP_047272883.1:p.Phe185fs, XP_047272884.1:p.Phe160fs, XP_047272876.1:p.Phe185fs, XP_047272881.1:p.Phe185fs, XP_011535887.1:p.Phe154fs, XP_047272877.1:p.Phe154fs, XP_047272879.1:p.Phe154fs, XP_047272880.1:p.Phe154fs, XP_047272885.1:p.Phe185fs

              7.

              rs1476886279 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                5:151467909 (GRCh38)
                5:150847470 (GRCh37)
                Canonical SPDI:
                NC_000005.10:151467908:A:G
                Gene:
                SLC36A1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000005.10:g.151467909A>G, NC_000005.9:g.150847470A>G, XM_006714759.5:c.473A>G, XM_006714759.4:c.473A>G, XM_006714759.3:c.473A>G, XM_006714759.2:c.473A>G, XM_006714759.1:c.473A>G, NM_078483.4:c.707A>G, NM_078483.3:c.707A>G, NM_078483.2:c.707A>G, XM_011537589.4:c.707A>G, XM_011537589.3:c.707A>G, XM_011537589.2:c.707A>G, XM_011537589.1:c.707A>G, XM_011537587.4:c.707A>G, XM_011537587.3:c.707A>G, XM_011537587.2:c.707A>G, XM_011537587.1:c.707A>G, XM_011537580.3:c.725A>G, XM_011537580.2:c.725A>G, XM_011537580.1:c.725A>G, XM_011537595.3:c.800A>G, XM_011537595.2:c.725A>G, XM_011537595.1:c.800A>G, XM_011537592.3:c.707A>G, XM_011537592.2:c.707A>G, XM_011537592.1:c.707A>G, XM_011537584.3:c.707A>G, XM_011537584.2:c.707A>G, XM_011537584.1:c.707A>G, XM_011537586.3:c.707A>G, XM_011537586.2:c.707A>G, XM_011537586.1:c.707A>G, XM_011537596.3:c.800A>G, XM_011537596.2:c.707A>G, XM_011537596.1:c.800A>G, XM_011537581.2:c.707A>G, XM_011537581.1:c.707A>G, NM_001349740.2:c.623A>G, NM_001349740.1:c.623A>G, XM_011537591.2:c.707A>G, XM_011537591.1:c.707A>G, XM_011537590.2:c.707A>G, XM_011537590.1:c.707A>G, XM_017009216.2:c.707A>G, XM_017009216.1:c.707A>G, XM_017009217.2:c.707A>G, XM_017009217.1:c.707A>G, NM_001308150.2:c.707A>G, NM_001308150.1:c.707A>G, NM_001308151.2:c.707A>G, NM_001308151.1:c.707A>G, XM_047416927.1:c.800A>G, XM_047416928.1:c.725A>G, XM_047416920.1:c.800A>G, XM_047416925.1:c.800A>G, XM_011537585.1:c.707A>G, XM_047416921.1:c.707A>G, XM_047416923.1:c.707A>G, XM_047416924.1:c.707A>G, XM_047416929.1:c.800A>G, XP_006714822.1:p.Tyr158Cys, NP_510968.2:p.Tyr236Cys, XP_011535891.1:p.Tyr236Cys, XP_011535889.1:p.Tyr236Cys, XP_011535882.1:p.Tyr242Cys, XP_011535897.3:p.Tyr267Cys, XP_011535894.1:p.Tyr236Cys, XP_011535886.1:p.Tyr236Cys, XP_011535888.1:p.Tyr236Cys, XP_011535898.3:p.Tyr267Cys, XP_011535883.1:p.Tyr236Cys, NP_001336669.1:p.Tyr208Cys, XP_011535893.1:p.Tyr236Cys, XP_011535892.1:p.Tyr236Cys, XP_016864705.1:p.Tyr236Cys, XP_016864706.1:p.Tyr236Cys, NP_001295079.1:p.Tyr236Cys, NP_001295080.1:p.Tyr236Cys, XP_047272883.1:p.Tyr267Cys, XP_047272884.1:p.Tyr242Cys, XP_047272876.1:p.Tyr267Cys, XP_047272881.1:p.Tyr267Cys, XP_011535887.1:p.Tyr236Cys, XP_047272877.1:p.Tyr236Cys, XP_047272879.1:p.Tyr236Cys, XP_047272880.1:p.Tyr236Cys, XP_047272885.1:p.Tyr267Cys

                8.

                rs1476704602 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  5:151488178 (GRCh38)
                  5:150867739 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:151488177:C:A,NC_000005.10:151488177:C:T
                  Gene:
                  SLC36A1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000005.10:g.151488178C>A, NC_000005.10:g.151488178C>T, NC_000005.9:g.150867739C>A, NC_000005.9:g.150867739C>T, XM_006714759.5:c.1121C>A, XM_006714759.5:c.1121C>T, XM_006714759.4:c.1121C>A, XM_006714759.4:c.1121C>T, XM_006714759.3:c.1121C>A, XM_006714759.3:c.1121C>T, XM_006714759.2:c.1121C>A, XM_006714759.2:c.1121C>T, XM_006714759.1:c.1121C>A, XM_006714759.1:c.1121C>T, NM_078483.4:c.1355C>A, NM_078483.4:c.1355C>T, NM_078483.3:c.1355C>A, NM_078483.3:c.1355C>T, NM_078483.2:c.1355C>A, NM_078483.2:c.1355C>T, XM_011537589.4:c.1355C>A, XM_011537589.4:c.1355C>T, XM_011537589.3:c.1355C>A, XM_011537589.3:c.1355C>T, XM_011537589.2:c.1355C>A, XM_011537589.2:c.1355C>T, XM_011537589.1:c.1355C>A, XM_011537589.1:c.1355C>T, XM_011537587.4:c.1355C>A, XM_011537587.4:c.1355C>T, XM_011537587.3:c.1355C>A, XM_011537587.3:c.1355C>T, XM_011537587.2:c.1355C>A, XM_011537587.2:c.1355C>T, XM_011537587.1:c.1355C>A, XM_011537587.1:c.1355C>T, XM_011537580.3:c.1373C>A, XM_011537580.3:c.1373C>T, XM_011537580.2:c.1373C>A, XM_011537580.2:c.1373C>T, XM_011537580.1:c.1373C>A, XM_011537580.1:c.1373C>T, XM_011537592.3:c.1355C>A, XM_011537592.3:c.1355C>T, XM_011537592.2:c.1355C>A, XM_011537592.2:c.1355C>T, XM_011537592.1:c.1355C>A, XM_011537592.1:c.1355C>T, XM_011537584.3:c.1355C>A, XM_011537584.3:c.1355C>T, XM_011537584.2:c.1355C>A, XM_011537584.2:c.1355C>T, XM_011537584.1:c.1355C>A, XM_011537584.1:c.1355C>T, XM_011537586.3:c.1355C>A, XM_011537586.3:c.1355C>T, XM_011537586.2:c.1355C>A, XM_011537586.2:c.1355C>T, XM_011537586.1:c.1355C>A, XM_011537586.1:c.1355C>T, XM_011537581.2:c.1355C>A, XM_011537581.2:c.1355C>T, XM_011537581.1:c.1355C>A, XM_011537581.1:c.1355C>T, NM_001349740.2:c.1271C>A, NM_001349740.2:c.1271C>T, NM_001349740.1:c.1271C>A, NM_001349740.1:c.1271C>T, XM_011537591.2:c.1355C>A, XM_011537591.2:c.1355C>T, XM_011537591.1:c.1355C>A, XM_011537591.1:c.1355C>T, XM_011537590.2:c.1355C>A, XM_011537590.2:c.1355C>T, XM_011537590.1:c.1355C>A, XM_011537590.1:c.1355C>T, XM_017009216.2:c.1355C>A, XM_017009216.2:c.1355C>T, XM_017009216.1:c.1355C>A, XM_017009216.1:c.1355C>T, XM_047416920.1:c.1448C>A, XM_047416920.1:c.1448C>T, XM_011537585.1:c.1355C>A, XM_011537585.1:c.1355C>T, XM_047416921.1:c.1355C>A, XM_047416921.1:c.1355C>T, XM_047416923.1:c.1355C>A, XM_047416923.1:c.1355C>T, XM_047416924.1:c.1355C>A, XM_047416924.1:c.1355C>T, XP_006714822.1:p.Thr374Asn, XP_006714822.1:p.Thr374Ile, NP_510968.2:p.Thr452Asn, NP_510968.2:p.Thr452Ile, XP_011535891.1:p.Thr452Asn, XP_011535891.1:p.Thr452Ile, XP_011535889.1:p.Thr452Asn, XP_011535889.1:p.Thr452Ile, XP_011535882.1:p.Thr458Asn, XP_011535882.1:p.Thr458Ile, XP_011535894.1:p.Thr452Asn, XP_011535894.1:p.Thr452Ile, XP_011535886.1:p.Thr452Asn, XP_011535886.1:p.Thr452Ile, XP_011535888.1:p.Thr452Asn, XP_011535888.1:p.Thr452Ile, XP_011535883.1:p.Thr452Asn, XP_011535883.1:p.Thr452Ile, NP_001336669.1:p.Thr424Asn, NP_001336669.1:p.Thr424Ile, XP_011535893.1:p.Thr452Asn, XP_011535893.1:p.Thr452Ile, XP_011535892.1:p.Thr452Asn, XP_011535892.1:p.Thr452Ile, XP_016864705.1:p.Thr452Asn, XP_016864705.1:p.Thr452Ile, XP_047272876.1:p.Thr483Asn, XP_047272876.1:p.Thr483Ile, XP_011535887.1:p.Thr452Asn, XP_011535887.1:p.Thr452Ile, XP_047272877.1:p.Thr452Asn, XP_047272877.1:p.Thr452Ile, XP_047272879.1:p.Thr452Asn, XP_047272879.1:p.Thr452Ile, XP_047272880.1:p.Thr452Asn, XP_047272880.1:p.Thr452Ile

                  9.

                  rs1476038565 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    5:151458850 (GRCh38)
                    5:150838411 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:151458849:A:G
                    Gene:
                    SLC36A1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000005.10:g.151458850A>G, NC_000005.9:g.150838411A>G, NM_078483.4:c.58A>G, NM_078483.3:c.58A>G, NM_078483.2:c.58A>G, XM_011537589.4:c.58A>G, XM_011537589.3:c.58A>G, XM_011537589.2:c.58A>G, XM_011537589.1:c.58A>G, XM_011537587.4:c.58A>G, XM_011537587.3:c.58A>G, XM_011537587.2:c.58A>G, XM_011537587.1:c.58A>G, XM_011537580.3:c.76A>G, XM_011537580.2:c.76A>G, XM_011537580.1:c.76A>G, XM_011537595.3:c.151A>G, XM_011537595.2:c.76A>G, XM_011537595.1:c.151A>G, XM_011537592.3:c.58A>G, XM_011537592.2:c.58A>G, XM_011537592.1:c.58A>G, XM_011537584.3:c.58A>G, XM_011537584.2:c.58A>G, XM_011537584.1:c.58A>G, XM_011537586.3:c.58A>G, XM_011537586.2:c.58A>G, XM_011537586.1:c.58A>G, XM_011537596.3:c.151A>G, XM_011537596.2:c.58A>G, XM_011537596.1:c.151A>G, XM_011537581.2:c.58A>G, XM_011537581.1:c.58A>G, NM_001349740.2:c.-86A>G, NM_001349740.1:c.-86A>G, XM_011537591.2:c.58A>G, XM_011537591.1:c.58A>G, XM_011537590.2:c.58A>G, XM_011537590.1:c.58A>G, XM_017009216.2:c.58A>G, XM_017009216.1:c.58A>G, XM_017009217.2:c.58A>G, XM_017009217.1:c.58A>G, NM_001308150.2:c.58A>G, NM_001308150.1:c.58A>G, NM_001308151.2:c.58A>G, NM_001308151.1:c.58A>G, XM_047416927.1:c.151A>G, XM_047416928.1:c.76A>G, XM_047416920.1:c.151A>G, XM_047416925.1:c.151A>G, XM_011537585.1:c.58A>G, XM_047416921.1:c.58A>G, XM_047416923.1:c.58A>G, XM_047416924.1:c.58A>G, XM_047416929.1:c.151A>G, NP_510968.2:p.Ser20Gly, XP_011535891.1:p.Ser20Gly, XP_011535889.1:p.Ser20Gly, XP_011535882.1:p.Ser26Gly, XP_011535897.3:p.Ser51Gly, XP_011535894.1:p.Ser20Gly, XP_011535886.1:p.Ser20Gly, XP_011535888.1:p.Ser20Gly, XP_011535898.3:p.Ser51Gly, XP_011535883.1:p.Ser20Gly, XP_011535893.1:p.Ser20Gly, XP_011535892.1:p.Ser20Gly, XP_016864705.1:p.Ser20Gly, XP_016864706.1:p.Ser20Gly, NP_001295079.1:p.Ser20Gly, NP_001295080.1:p.Ser20Gly, XP_047272883.1:p.Ser51Gly, XP_047272884.1:p.Ser26Gly, XP_047272876.1:p.Ser51Gly, XP_047272881.1:p.Ser51Gly, XP_011535887.1:p.Ser20Gly, XP_047272877.1:p.Ser20Gly, XP_047272879.1:p.Ser20Gly, XP_047272880.1:p.Ser20Gly, XP_047272885.1:p.Ser51Gly

                    10.

                    rs1473995183 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:151488161 (GRCh38)
                      5:150867722 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:151488160:G:A
                      Gene:
                      SLC36A1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                      HGVS:
                      NC_000005.10:g.151488161G>A, NC_000005.9:g.150867722G>A, XM_006714759.5:c.1104G>A, XM_006714759.4:c.1104G>A, XM_006714759.3:c.1104G>A, XM_006714759.2:c.1104G>A, XM_006714759.1:c.1104G>A, NM_078483.4:c.1338G>A, NM_078483.3:c.1338G>A, NM_078483.2:c.1338G>A, XM_011537589.4:c.1338G>A, XM_011537589.3:c.1338G>A, XM_011537589.2:c.1338G>A, XM_011537589.1:c.1338G>A, XM_011537587.4:c.1338G>A, XM_011537587.3:c.1338G>A, XM_011537587.2:c.1338G>A, XM_011537587.1:c.1338G>A, XM_011537580.3:c.1356G>A, XM_011537580.2:c.1356G>A, XM_011537580.1:c.1356G>A, XM_011537592.3:c.1338G>A, XM_011537592.2:c.1338G>A, XM_011537592.1:c.1338G>A, XM_011537584.3:c.1338G>A, XM_011537584.2:c.1338G>A, XM_011537584.1:c.1338G>A, XM_011537586.3:c.1338G>A, XM_011537586.2:c.1338G>A, XM_011537586.1:c.1338G>A, XM_011537581.2:c.1338G>A, XM_011537581.1:c.1338G>A, NM_001349740.2:c.1254G>A, NM_001349740.1:c.1254G>A, XM_011537591.2:c.1338G>A, XM_011537591.1:c.1338G>A, XM_011537590.2:c.1338G>A, XM_011537590.1:c.1338G>A, XM_017009216.2:c.1338G>A, XM_017009216.1:c.1338G>A, XM_047416920.1:c.1431G>A, XM_011537585.1:c.1338G>A, XM_047416921.1:c.1338G>A, XM_047416923.1:c.1338G>A, XM_047416924.1:c.1338G>A

                      11.

                      rs1471516599 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:151467773 (GRCh38)
                        5:150847334 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:151467772:A:G
                        Gene:
                        SLC36A1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000005.10:g.151467773A>G, NC_000005.9:g.150847334A>G, XM_006714759.5:c.337A>G, XM_006714759.4:c.337A>G, XM_006714759.3:c.337A>G, XM_006714759.2:c.337A>G, XM_006714759.1:c.337A>G, NM_078483.4:c.571A>G, NM_078483.3:c.571A>G, NM_078483.2:c.571A>G, XM_011537589.4:c.571A>G, XM_011537589.3:c.571A>G, XM_011537589.2:c.571A>G, XM_011537589.1:c.571A>G, XM_011537587.4:c.571A>G, XM_011537587.3:c.571A>G, XM_011537587.2:c.571A>G, XM_011537587.1:c.571A>G, XM_011537580.3:c.589A>G, XM_011537580.2:c.589A>G, XM_011537580.1:c.589A>G, XM_011537595.3:c.664A>G, XM_011537595.2:c.589A>G, XM_011537595.1:c.664A>G, XM_011537592.3:c.571A>G, XM_011537592.2:c.571A>G, XM_011537592.1:c.571A>G, XM_011537584.3:c.571A>G, XM_011537584.2:c.571A>G, XM_011537584.1:c.571A>G, XM_011537586.3:c.571A>G, XM_011537586.2:c.571A>G, XM_011537586.1:c.571A>G, XM_011537596.3:c.664A>G, XM_011537596.2:c.571A>G, XM_011537596.1:c.664A>G, XM_011537581.2:c.571A>G, XM_011537581.1:c.571A>G, NM_001349740.2:c.487A>G, NM_001349740.1:c.487A>G, XM_011537591.2:c.571A>G, XM_011537591.1:c.571A>G, XM_011537590.2:c.571A>G, XM_011537590.1:c.571A>G, XM_017009216.2:c.571A>G, XM_017009216.1:c.571A>G, XM_017009217.2:c.571A>G, XM_017009217.1:c.571A>G, NM_001308150.2:c.571A>G, NM_001308150.1:c.571A>G, NM_001308151.2:c.571A>G, NM_001308151.1:c.571A>G, XM_047416927.1:c.664A>G, XM_047416928.1:c.589A>G, XM_047416920.1:c.664A>G, XM_047416925.1:c.664A>G, XM_011537585.1:c.571A>G, XM_047416921.1:c.571A>G, XM_047416923.1:c.571A>G, XM_047416924.1:c.571A>G, XM_047416929.1:c.664A>G, XP_006714822.1:p.Thr113Ala, NP_510968.2:p.Thr191Ala, XP_011535891.1:p.Thr191Ala, XP_011535889.1:p.Thr191Ala, XP_011535882.1:p.Thr197Ala, XP_011535897.3:p.Thr222Ala, XP_011535894.1:p.Thr191Ala, XP_011535886.1:p.Thr191Ala, XP_011535888.1:p.Thr191Ala, XP_011535898.3:p.Thr222Ala, XP_011535883.1:p.Thr191Ala, NP_001336669.1:p.Thr163Ala, XP_011535893.1:p.Thr191Ala, XP_011535892.1:p.Thr191Ala, XP_016864705.1:p.Thr191Ala, XP_016864706.1:p.Thr191Ala, NP_001295079.1:p.Thr191Ala, NP_001295080.1:p.Thr191Ala, XP_047272883.1:p.Thr222Ala, XP_047272884.1:p.Thr197Ala, XP_047272876.1:p.Thr222Ala, XP_047272881.1:p.Thr222Ala, XP_011535887.1:p.Thr191Ala, XP_047272877.1:p.Thr191Ala, XP_047272879.1:p.Thr191Ala, XP_047272880.1:p.Thr191Ala, XP_047272885.1:p.Thr222Ala

                        12.

                        rs1470862347 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:151458859 (GRCh38)
                          5:150838420 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:151458858:G:A
                          Gene:
                          SLC36A1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000005.10:g.151458859G>A, NC_000005.9:g.150838420G>A, NM_078483.4:c.67G>A, NM_078483.3:c.67G>A, NM_078483.2:c.67G>A, XM_011537589.4:c.67G>A, XM_011537589.3:c.67G>A, XM_011537589.2:c.67G>A, XM_011537589.1:c.67G>A, XM_011537587.4:c.67G>A, XM_011537587.3:c.67G>A, XM_011537587.2:c.67G>A, XM_011537587.1:c.67G>A, XM_011537580.3:c.85G>A, XM_011537580.2:c.85G>A, XM_011537580.1:c.85G>A, XM_011537595.3:c.160G>A, XM_011537595.2:c.85G>A, XM_011537595.1:c.160G>A, XM_011537592.3:c.67G>A, XM_011537592.2:c.67G>A, XM_011537592.1:c.67G>A, XM_011537584.3:c.67G>A, XM_011537584.2:c.67G>A, XM_011537584.1:c.67G>A, XM_011537586.3:c.67G>A, XM_011537586.2:c.67G>A, XM_011537586.1:c.67G>A, XM_011537596.3:c.160G>A, XM_011537596.2:c.67G>A, XM_011537596.1:c.160G>A, XM_011537581.2:c.67G>A, XM_011537581.1:c.67G>A, NM_001349740.2:c.-77G>A, NM_001349740.1:c.-77G>A, XM_011537591.2:c.67G>A, XM_011537591.1:c.67G>A, XM_011537590.2:c.67G>A, XM_011537590.1:c.67G>A, XM_017009216.2:c.67G>A, XM_017009216.1:c.67G>A, XM_017009217.2:c.67G>A, XM_017009217.1:c.67G>A, NM_001308150.2:c.67G>A, NM_001308150.1:c.67G>A, NM_001308151.2:c.67G>A, NM_001308151.1:c.67G>A, XM_047416927.1:c.160G>A, XM_047416928.1:c.85G>A, XM_047416920.1:c.160G>A, XM_047416925.1:c.160G>A, XM_011537585.1:c.67G>A, XM_047416921.1:c.67G>A, XM_047416923.1:c.67G>A, XM_047416924.1:c.67G>A, XM_047416929.1:c.160G>A, NP_510968.2:p.Glu23Lys, XP_011535891.1:p.Glu23Lys, XP_011535889.1:p.Glu23Lys, XP_011535882.1:p.Glu29Lys, XP_011535897.3:p.Glu54Lys, XP_011535894.1:p.Glu23Lys, XP_011535886.1:p.Glu23Lys, XP_011535888.1:p.Glu23Lys, XP_011535898.3:p.Glu54Lys, XP_011535883.1:p.Glu23Lys, XP_011535893.1:p.Glu23Lys, XP_011535892.1:p.Glu23Lys, XP_016864705.1:p.Glu23Lys, XP_016864706.1:p.Glu23Lys, NP_001295079.1:p.Glu23Lys, NP_001295080.1:p.Glu23Lys, XP_047272883.1:p.Glu54Lys, XP_047272884.1:p.Glu29Lys, XP_047272876.1:p.Glu54Lys, XP_047272881.1:p.Glu54Lys, XP_011535887.1:p.Glu23Lys, XP_047272877.1:p.Glu23Lys, XP_047272879.1:p.Glu23Lys, XP_047272880.1:p.Glu23Lys, XP_047272885.1:p.Glu54Lys

                          13.

                          rs1463450267 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            5:151479390 (GRCh38)
                            5:150858951 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:151479389:C:G,NC_000005.10:151479389:C:T
                            Gene:
                            SLC36A1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000005.10:g.151479390C>G, NC_000005.10:g.151479390C>T, NC_000005.9:g.150858951C>G, NC_000005.9:g.150858951C>T, XM_006714759.5:c.826C>G, XM_006714759.5:c.826C>T, XM_006714759.4:c.826C>G, XM_006714759.4:c.826C>T, XM_006714759.3:c.826C>G, XM_006714759.3:c.826C>T, XM_006714759.2:c.826C>G, XM_006714759.2:c.826C>T, XM_006714759.1:c.826C>G, XM_006714759.1:c.826C>T, NM_078483.4:c.1060C>G, NM_078483.4:c.1060C>T, NM_078483.3:c.1060C>G, NM_078483.3:c.1060C>T, NM_078483.2:c.1060C>G, NM_078483.2:c.1060C>T, XM_011537589.4:c.1060C>G, XM_011537589.4:c.1060C>T, XM_011537589.3:c.1060C>G, XM_011537589.3:c.1060C>T, XM_011537589.2:c.1060C>G, XM_011537589.2:c.1060C>T, XM_011537589.1:c.1060C>G, XM_011537589.1:c.1060C>T, XM_011537587.4:c.1060C>G, XM_011537587.4:c.1060C>T, XM_011537587.3:c.1060C>G, XM_011537587.3:c.1060C>T, XM_011537587.2:c.1060C>G, XM_011537587.2:c.1060C>T, XM_011537587.1:c.1060C>G, XM_011537587.1:c.1060C>T, XM_011537580.3:c.1078C>G, XM_011537580.3:c.1078C>T, XM_011537580.2:c.1078C>G, XM_011537580.2:c.1078C>T, XM_011537580.1:c.1078C>G, XM_011537580.1:c.1078C>T, XM_011537595.3:c.1153C>G, XM_011537595.3:c.1153C>T, XM_011537595.2:c.1078C>G, XM_011537595.2:c.1078C>T, XM_011537595.1:c.1153C>G, XM_011537595.1:c.1153C>T, XM_011537592.3:c.1060C>G, XM_011537592.3:c.1060C>T, XM_011537592.2:c.1060C>G, XM_011537592.2:c.1060C>T, XM_011537592.1:c.1060C>G, XM_011537592.1:c.1060C>T, XM_011537584.3:c.1060C>G, XM_011537584.3:c.1060C>T, XM_011537584.2:c.1060C>G, XM_011537584.2:c.1060C>T, XM_011537584.1:c.1060C>G, XM_011537584.1:c.1060C>T, XM_011537586.3:c.1060C>G, XM_011537586.3:c.1060C>T, XM_011537586.2:c.1060C>G, XM_011537586.2:c.1060C>T, XM_011537586.1:c.1060C>G, XM_011537586.1:c.1060C>T, XM_011537581.2:c.1060C>G, XM_011537581.2:c.1060C>T, XM_011537581.1:c.1060C>G, XM_011537581.1:c.1060C>T, NM_001349740.2:c.976C>G, NM_001349740.2:c.976C>T, NM_001349740.1:c.976C>G, NM_001349740.1:c.976C>T, XM_011537591.2:c.1060C>G, XM_011537591.2:c.1060C>T, XM_011537591.1:c.1060C>G, XM_011537591.1:c.1060C>T, XM_011537590.2:c.1060C>G, XM_011537590.2:c.1060C>T, XM_011537590.1:c.1060C>G, XM_011537590.1:c.1060C>T, XM_017009216.2:c.1060C>G, XM_017009216.2:c.1060C>T, XM_017009216.1:c.1060C>G, XM_017009216.1:c.1060C>T, XM_017009217.2:c.1060C>G, XM_017009217.2:c.1060C>T, XM_017009217.1:c.1060C>G, XM_017009217.1:c.1060C>T, NM_001308150.2:c.1060C>G, NM_001308150.2:c.1060C>T, NM_001308150.1:c.1060C>G, NM_001308150.1:c.1060C>T, XM_047416927.1:c.1153C>G, XM_047416927.1:c.1153C>T, XM_047416928.1:c.1078C>G, XM_047416928.1:c.1078C>T, XM_047416920.1:c.1153C>G, XM_047416920.1:c.1153C>T, XM_047416925.1:c.1153C>G, XM_047416925.1:c.1153C>T, XM_011537585.1:c.1060C>G, XM_011537585.1:c.1060C>T, XM_047416921.1:c.1060C>G, XM_047416921.1:c.1060C>T, XM_047416923.1:c.1060C>G, XM_047416923.1:c.1060C>T, XM_047416924.1:c.1060C>G, XM_047416924.1:c.1060C>T, XP_006714822.1:p.Pro276Ala, XP_006714822.1:p.Pro276Ser, NP_510968.2:p.Pro354Ala, NP_510968.2:p.Pro354Ser, XP_011535891.1:p.Pro354Ala, XP_011535891.1:p.Pro354Ser, XP_011535889.1:p.Pro354Ala, XP_011535889.1:p.Pro354Ser, XP_011535882.1:p.Pro360Ala, XP_011535882.1:p.Pro360Ser, XP_011535897.3:p.Pro385Ala, XP_011535897.3:p.Pro385Ser, XP_011535894.1:p.Pro354Ala, XP_011535894.1:p.Pro354Ser, XP_011535886.1:p.Pro354Ala, XP_011535886.1:p.Pro354Ser, XP_011535888.1:p.Pro354Ala, XP_011535888.1:p.Pro354Ser, XP_011535883.1:p.Pro354Ala, XP_011535883.1:p.Pro354Ser, NP_001336669.1:p.Pro326Ala, NP_001336669.1:p.Pro326Ser, XP_011535893.1:p.Pro354Ala, XP_011535893.1:p.Pro354Ser, XP_011535892.1:p.Pro354Ala, XP_011535892.1:p.Pro354Ser, XP_016864705.1:p.Pro354Ala, XP_016864705.1:p.Pro354Ser, XP_016864706.1:p.Pro354Ala, XP_016864706.1:p.Pro354Ser, NP_001295079.1:p.Pro354Ala, NP_001295079.1:p.Pro354Ser, XP_047272883.1:p.Pro385Ala, XP_047272883.1:p.Pro385Ser, XP_047272884.1:p.Pro360Ala, XP_047272884.1:p.Pro360Ser, XP_047272876.1:p.Pro385Ala, XP_047272876.1:p.Pro385Ser, XP_047272881.1:p.Pro385Ala, XP_047272881.1:p.Pro385Ser, XP_011535887.1:p.Pro354Ala, XP_011535887.1:p.Pro354Ser, XP_047272877.1:p.Pro354Ala, XP_047272877.1:p.Pro354Ser, XP_047272879.1:p.Pro354Ala, XP_047272879.1:p.Pro354Ser, XP_047272880.1:p.Pro354Ala, XP_047272880.1:p.Pro354Ser

                            14.

                            rs1456706991 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              5:151473698 (GRCh38)
                              5:150853259 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:151473697:C:G
                              Gene:
                              SLC36A1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.151473698C>G, NC_000005.9:g.150853259C>G, XM_006714759.5:c.515C>G, XM_006714759.4:c.515C>G, XM_006714759.3:c.515C>G, XM_006714759.2:c.515C>G, XM_006714759.1:c.515C>G, NM_078483.4:c.749C>G, NM_078483.3:c.749C>G, NM_078483.2:c.749C>G, XM_011537589.4:c.749C>G, XM_011537589.3:c.749C>G, XM_011537589.2:c.749C>G, XM_011537589.1:c.749C>G, XM_011537587.4:c.749C>G, XM_011537587.3:c.749C>G, XM_011537587.2:c.749C>G, XM_011537587.1:c.749C>G, XM_011537580.3:c.767C>G, XM_011537580.2:c.767C>G, XM_011537580.1:c.767C>G, XM_011537595.3:c.842C>G, XM_011537595.2:c.767C>G, XM_011537595.1:c.842C>G, XM_011537592.3:c.749C>G, XM_011537592.2:c.749C>G, XM_011537592.1:c.749C>G, XM_011537584.3:c.749C>G, XM_011537584.2:c.749C>G, XM_011537584.1:c.749C>G, XM_011537586.3:c.749C>G, XM_011537586.2:c.749C>G, XM_011537586.1:c.749C>G, XM_011537581.2:c.749C>G, XM_011537581.1:c.749C>G, NM_001349740.2:c.665C>G, NM_001349740.1:c.665C>G, XM_011537591.2:c.749C>G, XM_011537591.1:c.749C>G, XM_011537590.2:c.749C>G, XM_011537590.1:c.749C>G, XM_017009216.2:c.749C>G, XM_017009216.1:c.749C>G, XM_017009217.2:c.749C>G, XM_017009217.1:c.749C>G, NM_001308150.2:c.749C>G, NM_001308150.1:c.749C>G, XM_047416927.1:c.842C>G, XM_047416928.1:c.767C>G, XM_047416920.1:c.842C>G, XM_047416925.1:c.842C>G, XM_011537585.1:c.749C>G, XM_047416921.1:c.749C>G, XM_047416923.1:c.749C>G, XM_047416924.1:c.749C>G, XP_006714822.1:p.Pro172Arg, NP_510968.2:p.Pro250Arg, XP_011535891.1:p.Pro250Arg, XP_011535889.1:p.Pro250Arg, XP_011535882.1:p.Pro256Arg, XP_011535897.3:p.Pro281Arg, XP_011535894.1:p.Pro250Arg, XP_011535886.1:p.Pro250Arg, XP_011535888.1:p.Pro250Arg, XP_011535883.1:p.Pro250Arg, NP_001336669.1:p.Pro222Arg, XP_011535893.1:p.Pro250Arg, XP_011535892.1:p.Pro250Arg, XP_016864705.1:p.Pro250Arg, XP_016864706.1:p.Pro250Arg, NP_001295079.1:p.Pro250Arg, XP_047272883.1:p.Pro281Arg, XP_047272884.1:p.Pro256Arg, XP_047272876.1:p.Pro281Arg, XP_047272881.1:p.Pro281Arg, XP_011535887.1:p.Pro250Arg, XP_047272877.1:p.Pro250Arg, XP_047272879.1:p.Pro250Arg, XP_047272880.1:p.Pro250Arg

                              15.

                              rs1456424497 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                5:151463553 (GRCh38)
                                5:150843114 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:151463552:A:T
                                Gene:
                                SLC36A1 (Varview)
                                Functional Consequence:
                                synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,initiator_codon_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000005.10:g.151463553A>T, NC_000005.9:g.150843114A>T, XM_006714759.5:c.-137A>T, XM_006714759.4:c.-137A>T, XM_006714759.3:c.-137A>T, NM_078483.4:c.144A>T, NM_078483.3:c.144A>T, NM_078483.2:c.144A>T, XM_011537589.4:c.144A>T, XM_011537589.3:c.144A>T, XM_011537589.2:c.144A>T, XM_011537589.1:c.144A>T, XM_011537587.4:c.144A>T, XM_011537587.3:c.144A>T, XM_011537587.2:c.144A>T, XM_011537587.1:c.144A>T, XM_011537580.3:c.162A>T, XM_011537580.2:c.162A>T, XM_011537580.1:c.162A>T, XM_011537595.3:c.237A>T, XM_011537595.2:c.162A>T, XM_011537595.1:c.237A>T, XM_011537592.3:c.144A>T, XM_011537592.2:c.144A>T, XM_011537592.1:c.144A>T, XM_011537584.3:c.144A>T, XM_011537584.2:c.144A>T, XM_011537584.1:c.144A>T, XM_011537586.3:c.144A>T, XM_011537586.2:c.144A>T, XM_011537586.1:c.144A>T, XM_011537596.3:c.237A>T, XM_011537596.2:c.144A>T, XM_011537596.1:c.237A>T, XM_011537581.2:c.144A>T, XM_011537581.1:c.144A>T, NM_001349740.2:c.1A>T, NM_001349740.1:c.1A>T, XM_011537591.2:c.144A>T, XM_011537591.1:c.144A>T, XM_011537590.2:c.144A>T, XM_011537590.1:c.144A>T, XM_017009216.2:c.144A>T, XM_017009216.1:c.144A>T, XM_017009217.2:c.144A>T, XM_017009217.1:c.144A>T, NM_001308150.2:c.144A>T, NM_001308150.1:c.144A>T, NM_001308151.2:c.144A>T, NM_001308151.1:c.144A>T, XM_047416927.1:c.237A>T, XM_047416928.1:c.162A>T, XM_047416920.1:c.237A>T, XM_047416925.1:c.237A>T, XM_011537585.1:c.144A>T, XM_047416921.1:c.144A>T, XM_047416923.1:c.144A>T, XM_047416924.1:c.144A>T, XM_047416929.1:c.237A>T, NP_001336669.1:p.Met1Leu

                                16.

                                rs1455179622 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:151465128 (GRCh38)
                                  5:150844689 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:151465127:C:T
                                  Gene:
                                  SLC36A1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.151465128C>T, NC_000005.9:g.150844689C>T, XM_006714759.5:c.144C>T, XM_006714759.4:c.144C>T, XM_006714759.3:c.144C>T, XM_006714759.2:c.144C>T, XM_006714759.1:c.144C>T, NM_078483.4:c.378C>T, NM_078483.3:c.378C>T, NM_078483.2:c.378C>T, XM_011537589.4:c.378C>T, XM_011537589.3:c.378C>T, XM_011537589.2:c.378C>T, XM_011537589.1:c.378C>T, XM_011537587.4:c.378C>T, XM_011537587.3:c.378C>T, XM_011537587.2:c.378C>T, XM_011537587.1:c.378C>T, XM_011537580.3:c.396C>T, XM_011537580.2:c.396C>T, XM_011537580.1:c.396C>T, XM_011537595.3:c.471C>T, XM_011537595.2:c.396C>T, XM_011537595.1:c.471C>T, XM_011537592.3:c.378C>T, XM_011537592.2:c.378C>T, XM_011537592.1:c.378C>T, XM_011537584.3:c.378C>T, XM_011537584.2:c.378C>T, XM_011537584.1:c.378C>T, XM_011537586.3:c.378C>T, XM_011537586.2:c.378C>T, XM_011537586.1:c.378C>T, XM_011537596.3:c.471C>T, XM_011537596.2:c.378C>T, XM_011537596.1:c.471C>T, XM_011537581.2:c.378C>T, XM_011537581.1:c.378C>T, NM_001349740.2:c.294C>T, NM_001349740.1:c.294C>T, XM_011537591.2:c.378C>T, XM_011537591.1:c.378C>T, XM_011537590.2:c.378C>T, XM_011537590.1:c.378C>T, XM_017009216.2:c.378C>T, XM_017009216.1:c.378C>T, XM_017009217.2:c.378C>T, XM_017009217.1:c.378C>T, NM_001308150.2:c.378C>T, NM_001308150.1:c.378C>T, NM_001308151.2:c.378C>T, NM_001308151.1:c.378C>T, XM_047416927.1:c.471C>T, XM_047416928.1:c.396C>T, XM_047416920.1:c.471C>T, XM_047416925.1:c.471C>T, XM_011537585.1:c.378C>T, XM_047416921.1:c.378C>T, XM_047416923.1:c.378C>T, XM_047416924.1:c.378C>T, XM_047416929.1:c.471C>T

                                  17.

                                  rs1454373627 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    5:151458826 (GRCh38)
                                    5:150838387 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:151458825:C:A,NC_000005.10:151458825:C:T
                                    Gene:
                                    SLC36A1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.00004/1 (TOMMO)
                                    HGVS:
                                    NC_000005.10:g.151458826C>A, NC_000005.10:g.151458826C>T, NC_000005.9:g.150838387C>A, NC_000005.9:g.150838387C>T, NM_078483.4:c.34C>A, NM_078483.4:c.34C>T, NM_078483.3:c.34C>A, NM_078483.3:c.34C>T, NM_078483.2:c.34C>A, NM_078483.2:c.34C>T, XM_011537589.4:c.34C>A, XM_011537589.4:c.34C>T, XM_011537589.3:c.34C>A, XM_011537589.3:c.34C>T, XM_011537589.2:c.34C>A, XM_011537589.2:c.34C>T, XM_011537589.1:c.34C>A, XM_011537589.1:c.34C>T, XM_011537587.4:c.34C>A, XM_011537587.4:c.34C>T, XM_011537587.3:c.34C>A, XM_011537587.3:c.34C>T, XM_011537587.2:c.34C>A, XM_011537587.2:c.34C>T, XM_011537587.1:c.34C>A, XM_011537587.1:c.34C>T, XM_011537580.3:c.52C>A, XM_011537580.3:c.52C>T, XM_011537580.2:c.52C>A, XM_011537580.2:c.52C>T, XM_011537580.1:c.52C>A, XM_011537580.1:c.52C>T, XM_011537595.3:c.127C>A, XM_011537595.3:c.127C>T, XM_011537595.2:c.52C>A, XM_011537595.2:c.52C>T, XM_011537595.1:c.127C>A, XM_011537595.1:c.127C>T, XM_011537592.3:c.34C>A, XM_011537592.3:c.34C>T, XM_011537592.2:c.34C>A, XM_011537592.2:c.34C>T, XM_011537592.1:c.34C>A, XM_011537592.1:c.34C>T, XM_011537584.3:c.34C>A, XM_011537584.3:c.34C>T, XM_011537584.2:c.34C>A, XM_011537584.2:c.34C>T, XM_011537584.1:c.34C>A, XM_011537584.1:c.34C>T, XM_011537586.3:c.34C>A, XM_011537586.3:c.34C>T, XM_011537586.2:c.34C>A, XM_011537586.2:c.34C>T, XM_011537586.1:c.34C>A, XM_011537586.1:c.34C>T, XM_011537596.3:c.127C>A, XM_011537596.3:c.127C>T, XM_011537596.2:c.34C>A, XM_011537596.2:c.34C>T, XM_011537596.1:c.127C>A, XM_011537596.1:c.127C>T, XM_011537581.2:c.34C>A, XM_011537581.2:c.34C>T, XM_011537581.1:c.34C>A, XM_011537581.1:c.34C>T, NM_001349740.2:c.-110C>A, NM_001349740.2:c.-110C>T, NM_001349740.1:c.-110C>A, NM_001349740.1:c.-110C>T, XM_011537591.2:c.34C>A, XM_011537591.2:c.34C>T, XM_011537591.1:c.34C>A, XM_011537591.1:c.34C>T, XM_011537590.2:c.34C>A, XM_011537590.2:c.34C>T, XM_011537590.1:c.34C>A, XM_011537590.1:c.34C>T, XM_017009216.2:c.34C>A, XM_017009216.2:c.34C>T, XM_017009216.1:c.34C>A, XM_017009216.1:c.34C>T, XM_017009217.2:c.34C>A, XM_017009217.2:c.34C>T, XM_017009217.1:c.34C>A, XM_017009217.1:c.34C>T, NM_001308150.2:c.34C>A, NM_001308150.2:c.34C>T, NM_001308150.1:c.34C>A, NM_001308150.1:c.34C>T, NM_001308151.2:c.34C>A, NM_001308151.2:c.34C>T, NM_001308151.1:c.34C>A, NM_001308151.1:c.34C>T, XM_047416927.1:c.127C>A, XM_047416927.1:c.127C>T, XM_047416928.1:c.52C>A, XM_047416928.1:c.52C>T, XM_047416920.1:c.127C>A, XM_047416920.1:c.127C>T, XM_047416925.1:c.127C>A, XM_047416925.1:c.127C>T, XM_011537585.1:c.34C>A, XM_011537585.1:c.34C>T, XM_047416921.1:c.34C>A, XM_047416921.1:c.34C>T, XM_047416923.1:c.34C>A, XM_047416923.1:c.34C>T, XM_047416924.1:c.34C>A, XM_047416924.1:c.34C>T, XM_047416929.1:c.127C>A, XM_047416929.1:c.127C>T, NP_510968.2:p.His12Asn, NP_510968.2:p.His12Tyr, XP_011535891.1:p.His12Asn, XP_011535891.1:p.His12Tyr, XP_011535889.1:p.His12Asn, XP_011535889.1:p.His12Tyr, XP_011535882.1:p.His18Asn, XP_011535882.1:p.His18Tyr, XP_011535897.3:p.His43Asn, XP_011535897.3:p.His43Tyr, XP_011535894.1:p.His12Asn, XP_011535894.1:p.His12Tyr, XP_011535886.1:p.His12Asn, XP_011535886.1:p.His12Tyr, XP_011535888.1:p.His12Asn, XP_011535888.1:p.His12Tyr, XP_011535898.3:p.His43Asn, XP_011535898.3:p.His43Tyr, XP_011535883.1:p.His12Asn, XP_011535883.1:p.His12Tyr, XP_011535893.1:p.His12Asn, XP_011535893.1:p.His12Tyr, XP_011535892.1:p.His12Asn, XP_011535892.1:p.His12Tyr, XP_016864705.1:p.His12Asn, XP_016864705.1:p.His12Tyr, XP_016864706.1:p.His12Asn, XP_016864706.1:p.His12Tyr, NP_001295079.1:p.His12Asn, NP_001295079.1:p.His12Tyr, NP_001295080.1:p.His12Asn, NP_001295080.1:p.His12Tyr, XP_047272883.1:p.His43Asn, XP_047272883.1:p.His43Tyr, XP_047272884.1:p.His18Asn, XP_047272884.1:p.His18Tyr, XP_047272876.1:p.His43Asn, XP_047272876.1:p.His43Tyr, XP_047272881.1:p.His43Asn, XP_047272881.1:p.His43Tyr, XP_011535887.1:p.His12Asn, XP_011535887.1:p.His12Tyr, XP_047272877.1:p.His12Asn, XP_047272877.1:p.His12Tyr, XP_047272879.1:p.His12Asn, XP_047272879.1:p.His12Tyr, XP_047272880.1:p.His12Asn, XP_047272880.1:p.His12Tyr, XP_047272885.1:p.His43Asn, XP_047272885.1:p.His43Tyr

                                    18.

                                    rs1453157569 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:151476667 (GRCh38)
                                      5:150856228 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:151476666:C:T
                                      Gene:
                                      SLC36A1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000005.10:g.151476667C>T, NC_000005.9:g.150856228C>T, XM_006714759.5:c.666C>T, XM_006714759.4:c.666C>T, XM_006714759.3:c.666C>T, XM_006714759.2:c.666C>T, XM_006714759.1:c.666C>T, NM_078483.4:c.900C>T, NM_078483.3:c.900C>T, NM_078483.2:c.900C>T, XM_011537589.4:c.900C>T, XM_011537589.3:c.900C>T, XM_011537589.2:c.900C>T, XM_011537589.1:c.900C>T, XM_011537587.4:c.900C>T, XM_011537587.3:c.900C>T, XM_011537587.2:c.900C>T, XM_011537587.1:c.900C>T, XM_011537580.3:c.918C>T, XM_011537580.2:c.918C>T, XM_011537580.1:c.918C>T, XM_011537595.3:c.993C>T, XM_011537595.2:c.918C>T, XM_011537595.1:c.993C>T, XM_011537592.3:c.900C>T, XM_011537592.2:c.900C>T, XM_011537592.1:c.900C>T, XM_011537584.3:c.900C>T, XM_011537584.2:c.900C>T, XM_011537584.1:c.900C>T, XM_011537586.3:c.900C>T, XM_011537586.2:c.900C>T, XM_011537586.1:c.900C>T, XM_011537581.2:c.900C>T, XM_011537581.1:c.900C>T, NM_001349740.2:c.816C>T, NM_001349740.1:c.816C>T, XM_011537591.2:c.900C>T, XM_011537591.1:c.900C>T, XM_011537590.2:c.900C>T, XM_011537590.1:c.900C>T, XM_017009216.2:c.900C>T, XM_017009216.1:c.900C>T, XM_017009217.2:c.900C>T, XM_017009217.1:c.900C>T, NM_001308150.2:c.900C>T, NM_001308150.1:c.900C>T, XM_047416927.1:c.993C>T, XM_047416928.1:c.918C>T, XM_047416920.1:c.993C>T, XM_047416925.1:c.993C>T, XM_011537585.1:c.900C>T, XM_047416921.1:c.900C>T, XM_047416923.1:c.900C>T, XM_047416924.1:c.900C>T

                                      19.

                                      rs1449723934 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:151476707 (GRCh38)
                                        5:150856268 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:151476706:T:C
                                        Gene:
                                        SLC36A1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by cluster
                                        HGVS:
                                        NC_000005.10:g.151476707T>C, NC_000005.9:g.150856268T>C, XM_006714759.5:c.706T>C, XM_006714759.4:c.706T>C, XM_006714759.3:c.706T>C, XM_006714759.2:c.706T>C, XM_006714759.1:c.706T>C, NM_078483.4:c.940T>C, NM_078483.3:c.940T>C, NM_078483.2:c.940T>C, XM_011537589.4:c.940T>C, XM_011537589.3:c.940T>C, XM_011537589.2:c.940T>C, XM_011537589.1:c.940T>C, XM_011537587.4:c.940T>C, XM_011537587.3:c.940T>C, XM_011537587.2:c.940T>C, XM_011537587.1:c.940T>C, XM_011537580.3:c.958T>C, XM_011537580.2:c.958T>C, XM_011537580.1:c.958T>C, XM_011537595.3:c.1033T>C, XM_011537595.2:c.958T>C, XM_011537595.1:c.1033T>C, XM_011537592.3:c.940T>C, XM_011537592.2:c.940T>C, XM_011537592.1:c.940T>C, XM_011537584.3:c.940T>C, XM_011537584.2:c.940T>C, XM_011537584.1:c.940T>C, XM_011537586.3:c.940T>C, XM_011537586.2:c.940T>C, XM_011537586.1:c.940T>C, XM_011537581.2:c.940T>C, XM_011537581.1:c.940T>C, NM_001349740.2:c.856T>C, NM_001349740.1:c.856T>C, XM_011537591.2:c.940T>C, XM_011537591.1:c.940T>C, XM_011537590.2:c.940T>C, XM_011537590.1:c.940T>C, XM_017009216.2:c.940T>C, XM_017009216.1:c.940T>C, XM_017009217.2:c.940T>C, XM_017009217.1:c.940T>C, NM_001308150.2:c.940T>C, NM_001308150.1:c.940T>C, XM_047416927.1:c.1033T>C, XM_047416928.1:c.958T>C, XM_047416920.1:c.1033T>C, XM_047416925.1:c.1033T>C, XM_011537585.1:c.940T>C, XM_047416921.1:c.940T>C, XM_047416923.1:c.940T>C, XM_047416924.1:c.940T>C, XP_006714822.1:p.Phe236Leu, NP_510968.2:p.Phe314Leu, XP_011535891.1:p.Phe314Leu, XP_011535889.1:p.Phe314Leu, XP_011535882.1:p.Phe320Leu, XP_011535897.3:p.Phe345Leu, XP_011535894.1:p.Phe314Leu, XP_011535886.1:p.Phe314Leu, XP_011535888.1:p.Phe314Leu, XP_011535883.1:p.Phe314Leu, NP_001336669.1:p.Phe286Leu, XP_011535893.1:p.Phe314Leu, XP_011535892.1:p.Phe314Leu, XP_016864705.1:p.Phe314Leu, XP_016864706.1:p.Phe314Leu, NP_001295079.1:p.Phe314Leu, XP_047272883.1:p.Phe345Leu, XP_047272884.1:p.Phe320Leu, XP_047272876.1:p.Phe345Leu, XP_047272881.1:p.Phe345Leu, XP_011535887.1:p.Phe314Leu, XP_047272877.1:p.Phe314Leu, XP_047272879.1:p.Phe314Leu, XP_047272880.1:p.Phe314Leu

                                        20.

                                        rs1449110252 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          5:151488122 (GRCh38)
                                          5:150867683 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:151488121:C:A
                                          Gene:
                                          SLC36A1 (Varview)
                                          Functional Consequence:
                                          intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000005.10:g.151488122C>A, NC_000005.9:g.150867683C>A, XM_006714759.5:c.1065C>A, XM_006714759.4:c.1065C>A, XM_006714759.3:c.1065C>A, XM_006714759.2:c.1065C>A, XM_006714759.1:c.1065C>A, NM_078483.4:c.1299C>A, NM_078483.3:c.1299C>A, NM_078483.2:c.1299C>A, XM_011537589.4:c.1299C>A, XM_011537589.3:c.1299C>A, XM_011537589.2:c.1299C>A, XM_011537589.1:c.1299C>A, XM_011537587.4:c.1299C>A, XM_011537587.3:c.1299C>A, XM_011537587.2:c.1299C>A, XM_011537587.1:c.1299C>A, XM_011537580.3:c.1317C>A, XM_011537580.2:c.1317C>A, XM_011537580.1:c.1317C>A, XM_011537592.3:c.1299C>A, XM_011537592.2:c.1299C>A, XM_011537592.1:c.1299C>A, XM_011537584.3:c.1299C>A, XM_011537584.2:c.1299C>A, XM_011537584.1:c.1299C>A, XM_011537586.3:c.1299C>A, XM_011537586.2:c.1299C>A, XM_011537586.1:c.1299C>A, XM_011537581.2:c.1299C>A, XM_011537581.1:c.1299C>A, NM_001349740.2:c.1215C>A, NM_001349740.1:c.1215C>A, XM_011537591.2:c.1299C>A, XM_011537591.1:c.1299C>A, XM_011537590.2:c.1299C>A, XM_011537590.1:c.1299C>A, XM_017009216.2:c.1299C>A, XM_017009216.1:c.1299C>A, XM_047416920.1:c.1392C>A, XM_011537585.1:c.1299C>A, XM_047416921.1:c.1299C>A, XM_047416923.1:c.1299C>A, XM_047416924.1:c.1299C>A

                                          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...