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Items: 1 to 20 of 792

1.

rs1490402901 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    5:34796020 (GRCh38)
    5:34796125 (GRCh37)
    Canonical SPDI:
    NC_000005.10:34796019:T:C
    Gene:
    RAI14 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000028/1 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.34796020T>C, NC_000005.9:g.34796125T>C, XM_011514021.3:c.249T>C, XM_011514021.2:c.249T>C, XM_011514021.1:c.249T>C, XM_011514017.3:c.249T>C, XM_011514017.2:c.249T>C, XM_011514017.1:c.249T>C, NM_015577.3:c.249T>C, NM_015577.2:c.249T>C, XM_006714469.3:c.249T>C, XM_006714469.2:c.249T>C, XM_006714469.1:c.249T>C, XM_011514016.3:c.267T>C, XM_011514016.2:c.267T>C, XM_011514016.1:c.228T>C, XM_011514025.3:c.267T>C, XM_011514025.2:c.267T>C, XM_011514025.1:c.228T>C, NM_001145525.2:c.258T>C, NM_001145525.1:c.258T>C, NM_001145521.2:c.249T>C, NM_001145521.1:c.249T>C, XM_011514018.2:c.249T>C, XM_011514018.1:c.249T>C, XM_011514019.2:c.249T>C, XM_011514019.1:c.249T>C, XM_011514020.2:c.249T>C, XM_011514020.1:c.249T>C, XM_017009335.2:c.249T>C, XM_017009335.1:c.249T>C, NM_001145523.2:c.225T>C, NM_001145523.1:c.225T>C, NM_001145522.2:c.249T>C, NM_001145522.1:c.249T>C, XM_011514022.2:c.249T>C, XM_011514022.1:c.249T>C, XM_024446017.2:c.225T>C, XM_024446017.1:c.225T>C, XM_047417091.1:c.249T>C, XM_047417090.1:c.255T>C, XM_047417088.1:c.249T>C, NM_001145520.1:c.249T>C, XM_047417092.1:c.249T>C, XM_047417089.1:c.249T>C

    2.

    rs1489505948 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      5:34823618 (GRCh38)
      5:34823723 (GRCh37)
      Canonical SPDI:
      NC_000005.10:34823617:G:A,NC_000005.10:34823617:G:C
      Gene:
      RAI14 (Varview)
      Functional Consequence:
      synonymous_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      C=0./0 (GnomAD)
      HGVS:
      NC_000005.10:g.34823618G>A, NC_000005.10:g.34823618G>C, NC_000005.9:g.34823723G>A, NC_000005.9:g.34823723G>C, XM_011514021.3:c.1776G>A, XM_011514021.3:c.1776G>C, XM_011514021.2:c.1776G>A, XM_011514021.2:c.1776G>C, XM_011514021.1:c.1776G>A, XM_011514021.1:c.1776G>C, XM_011514017.3:c.1776G>A, XM_011514017.3:c.1776G>C, XM_011514017.2:c.1776G>A, XM_011514017.2:c.1776G>C, XM_011514017.1:c.1776G>A, XM_011514017.1:c.1776G>C, NM_015577.3:c.1776G>A, NM_015577.3:c.1776G>C, NM_015577.2:c.1776G>A, NM_015577.2:c.1776G>C, XM_006714469.3:c.1776G>A, XM_006714469.3:c.1776G>C, XM_006714469.2:c.1776G>A, XM_006714469.2:c.1776G>C, XM_006714469.1:c.1776G>A, XM_006714469.1:c.1776G>C, XM_011514016.3:c.1794G>A, XM_011514016.3:c.1794G>C, XM_011514016.2:c.1794G>A, XM_011514016.2:c.1794G>C, XM_011514016.1:c.1755G>A, XM_011514016.1:c.1755G>C, XM_011514025.3:c.1707G>A, XM_011514025.3:c.1707G>C, XM_011514025.2:c.1707G>A, XM_011514025.2:c.1707G>C, XM_011514025.1:c.1668G>A, XM_011514025.1:c.1668G>C, NM_001145525.2:c.1785G>A, NM_001145525.2:c.1785G>C, NM_001145525.1:c.1785G>A, NM_001145525.1:c.1785G>C, NM_001145521.2:c.1776G>A, NM_001145521.2:c.1776G>C, NM_001145521.1:c.1776G>A, NM_001145521.1:c.1776G>C, XM_011514018.2:c.1776G>A, XM_011514018.2:c.1776G>C, XM_011514018.1:c.1776G>A, XM_011514018.1:c.1776G>C, XM_011514019.2:c.1776G>A, XM_011514019.2:c.1776G>C, XM_011514019.1:c.1776G>A, XM_011514019.1:c.1776G>C, XM_011514020.2:c.1776G>A, XM_011514020.2:c.1776G>C, XM_011514020.1:c.1776G>A, XM_011514020.1:c.1776G>C, XM_017009335.2:c.1689G>A, XM_017009335.2:c.1689G>C, XM_017009335.1:c.1689G>A, XM_017009335.1:c.1689G>C, NM_001145523.2:c.1752G>A, NM_001145523.2:c.1752G>C, NM_001145523.1:c.1752G>A, NM_001145523.1:c.1752G>C, NM_001145522.2:c.1689G>A, NM_001145522.2:c.1689G>C, NM_001145522.1:c.1689G>A, NM_001145522.1:c.1689G>C, XM_011514022.2:c.1776G>A, XM_011514022.2:c.1776G>C, XM_011514022.1:c.1776G>A, XM_011514022.1:c.1776G>C, XM_024446017.2:c.1752G>A, XM_024446017.2:c.1752G>C, XM_024446017.1:c.1752G>A, XM_024446017.1:c.1752G>C, XM_047417091.1:c.1689G>A, XM_047417091.1:c.1689G>C, XM_047417090.1:c.1695G>A, XM_047417090.1:c.1695G>C, XM_047417088.1:c.1776G>A, XM_047417088.1:c.1776G>C, NM_001145520.1:c.1776G>A, NM_001145520.1:c.1776G>C, XM_047417092.1:c.1689G>A, XM_047417092.1:c.1689G>C, XM_047417089.1:c.1776G>A, XM_047417089.1:c.1776G>C, XM_047417093.1:c.1209G>A, XM_047417093.1:c.1209G>C, XP_011512323.1:p.Lys592Asn, XP_011512319.1:p.Lys592Asn, NP_056392.2:p.Lys592Asn, XP_006714532.1:p.Lys592Asn, XP_011512318.2:p.Lys598Asn, XP_011512327.2:p.Lys569Asn, NP_001138997.1:p.Lys595Asn, NP_001138993.1:p.Lys592Asn, XP_011512320.1:p.Lys592Asn, XP_011512321.1:p.Lys592Asn, XP_011512322.1:p.Lys592Asn, XP_016864824.1:p.Lys563Asn, NP_001138995.1:p.Lys584Asn, NP_001138994.1:p.Lys563Asn, XP_011512324.1:p.Lys592Asn, XP_024301785.1:p.Lys584Asn, XP_047273047.1:p.Lys563Asn, XP_047273046.1:p.Lys565Asn, XP_047273044.1:p.Lys592Asn, NP_001138992.1:p.Lys592Asn, XP_047273048.1:p.Lys563Asn, XP_047273045.1:p.Lys592Asn, XP_047273049.1:p.Lys403Asn

      3.

      rs1487373219 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        5:34823256 (GRCh38)
        5:34823361 (GRCh37)
        Canonical SPDI:
        NC_000005.10:34823255:A:C,NC_000005.10:34823255:A:G
        Gene:
        RAI14 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000005.10:g.34823256A>C, NC_000005.10:g.34823256A>G, NC_000005.9:g.34823361A>C, NC_000005.9:g.34823361A>G, XM_011514021.3:c.1414A>C, XM_011514021.3:c.1414A>G, XM_011514021.2:c.1414A>C, XM_011514021.2:c.1414A>G, XM_011514021.1:c.1414A>C, XM_011514021.1:c.1414A>G, XM_011514017.3:c.1414A>C, XM_011514017.3:c.1414A>G, XM_011514017.2:c.1414A>C, XM_011514017.2:c.1414A>G, XM_011514017.1:c.1414A>C, XM_011514017.1:c.1414A>G, NM_015577.3:c.1414A>C, NM_015577.3:c.1414A>G, NM_015577.2:c.1414A>C, NM_015577.2:c.1414A>G, XM_006714469.3:c.1414A>C, XM_006714469.3:c.1414A>G, XM_006714469.2:c.1414A>C, XM_006714469.2:c.1414A>G, XM_006714469.1:c.1414A>C, XM_006714469.1:c.1414A>G, XM_011514016.3:c.1432A>C, XM_011514016.3:c.1432A>G, XM_011514016.2:c.1432A>C, XM_011514016.2:c.1432A>G, XM_011514016.1:c.1393A>C, XM_011514016.1:c.1393A>G, XM_011514025.3:c.1345A>C, XM_011514025.3:c.1345A>G, XM_011514025.2:c.1345A>C, XM_011514025.2:c.1345A>G, XM_011514025.1:c.1306A>C, XM_011514025.1:c.1306A>G, NM_001145525.2:c.1423A>C, NM_001145525.2:c.1423A>G, NM_001145525.1:c.1423A>C, NM_001145525.1:c.1423A>G, NM_001145521.2:c.1414A>C, NM_001145521.2:c.1414A>G, NM_001145521.1:c.1414A>C, NM_001145521.1:c.1414A>G, XM_011514018.2:c.1414A>C, XM_011514018.2:c.1414A>G, XM_011514018.1:c.1414A>C, XM_011514018.1:c.1414A>G, XM_011514019.2:c.1414A>C, XM_011514019.2:c.1414A>G, XM_011514019.1:c.1414A>C, XM_011514019.1:c.1414A>G, XM_011514020.2:c.1414A>C, XM_011514020.2:c.1414A>G, XM_011514020.1:c.1414A>C, XM_011514020.1:c.1414A>G, XM_017009335.2:c.1327A>C, XM_017009335.2:c.1327A>G, XM_017009335.1:c.1327A>C, XM_017009335.1:c.1327A>G, NM_001145523.2:c.1390A>C, NM_001145523.2:c.1390A>G, NM_001145523.1:c.1390A>C, NM_001145523.1:c.1390A>G, NM_001145522.2:c.1327A>C, NM_001145522.2:c.1327A>G, NM_001145522.1:c.1327A>C, NM_001145522.1:c.1327A>G, XM_011514022.2:c.1414A>C, XM_011514022.2:c.1414A>G, XM_011514022.1:c.1414A>C, XM_011514022.1:c.1414A>G, XM_024446017.2:c.1390A>C, XM_024446017.2:c.1390A>G, XM_024446017.1:c.1390A>C, XM_024446017.1:c.1390A>G, XM_047417091.1:c.1327A>C, XM_047417091.1:c.1327A>G, XM_047417090.1:c.1333A>C, XM_047417090.1:c.1333A>G, XM_047417088.1:c.1414A>C, XM_047417088.1:c.1414A>G, NM_001145520.1:c.1414A>C, NM_001145520.1:c.1414A>G, XM_047417092.1:c.1327A>C, XM_047417092.1:c.1327A>G, XM_047417089.1:c.1414A>C, XM_047417089.1:c.1414A>G, XM_047417093.1:c.847A>C, XM_047417093.1:c.847A>G, XP_011512323.1:p.Thr472Pro, XP_011512323.1:p.Thr472Ala, XP_011512319.1:p.Thr472Pro, XP_011512319.1:p.Thr472Ala, NP_056392.2:p.Thr472Pro, NP_056392.2:p.Thr472Ala, XP_006714532.1:p.Thr472Pro, XP_006714532.1:p.Thr472Ala, XP_011512318.2:p.Thr478Pro, XP_011512318.2:p.Thr478Ala, XP_011512327.2:p.Thr449Pro, XP_011512327.2:p.Thr449Ala, NP_001138997.1:p.Thr475Pro, NP_001138997.1:p.Thr475Ala, NP_001138993.1:p.Thr472Pro, NP_001138993.1:p.Thr472Ala, XP_011512320.1:p.Thr472Pro, XP_011512320.1:p.Thr472Ala, XP_011512321.1:p.Thr472Pro, XP_011512321.1:p.Thr472Ala, XP_011512322.1:p.Thr472Pro, XP_011512322.1:p.Thr472Ala, XP_016864824.1:p.Thr443Pro, XP_016864824.1:p.Thr443Ala, NP_001138995.1:p.Thr464Pro, NP_001138995.1:p.Thr464Ala, NP_001138994.1:p.Thr443Pro, NP_001138994.1:p.Thr443Ala, XP_011512324.1:p.Thr472Pro, XP_011512324.1:p.Thr472Ala, XP_024301785.1:p.Thr464Pro, XP_024301785.1:p.Thr464Ala, XP_047273047.1:p.Thr443Pro, XP_047273047.1:p.Thr443Ala, XP_047273046.1:p.Thr445Pro, XP_047273046.1:p.Thr445Ala, XP_047273044.1:p.Thr472Pro, XP_047273044.1:p.Thr472Ala, NP_001138992.1:p.Thr472Pro, NP_001138992.1:p.Thr472Ala, XP_047273048.1:p.Thr443Pro, XP_047273048.1:p.Thr443Ala, XP_047273045.1:p.Thr472Pro, XP_047273045.1:p.Thr472Ala, XP_047273049.1:p.Thr283Pro, XP_047273049.1:p.Thr283Ala

        4.

        rs1487340426 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          5:34823673 (GRCh38)
          5:34823778 (GRCh37)
          Canonical SPDI:
          NC_000005.10:34823672:T:C
          Gene:
          RAI14 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000005.10:g.34823673T>C, NC_000005.9:g.34823778T>C, XM_011514021.3:c.1831T>C, XM_011514021.2:c.1831T>C, XM_011514021.1:c.1831T>C, XM_011514017.3:c.1831T>C, XM_011514017.2:c.1831T>C, XM_011514017.1:c.1831T>C, NM_015577.3:c.1831T>C, NM_015577.2:c.1831T>C, XM_006714469.3:c.1831T>C, XM_006714469.2:c.1831T>C, XM_006714469.1:c.1831T>C, XM_011514016.3:c.1849T>C, XM_011514016.2:c.1849T>C, XM_011514016.1:c.1810T>C, XM_011514025.3:c.1762T>C, XM_011514025.2:c.1762T>C, XM_011514025.1:c.1723T>C, NM_001145525.2:c.1840T>C, NM_001145525.1:c.1840T>C, NM_001145521.2:c.1831T>C, NM_001145521.1:c.1831T>C, XM_011514018.2:c.1831T>C, XM_011514018.1:c.1831T>C, XM_011514019.2:c.1831T>C, XM_011514019.1:c.1831T>C, XM_011514020.2:c.1831T>C, XM_011514020.1:c.1831T>C, XM_017009335.2:c.1744T>C, XM_017009335.1:c.1744T>C, NM_001145523.2:c.1807T>C, NM_001145523.1:c.1807T>C, NM_001145522.2:c.1744T>C, NM_001145522.1:c.1744T>C, XM_011514022.2:c.1831T>C, XM_011514022.1:c.1831T>C, XM_024446017.2:c.1807T>C, XM_024446017.1:c.1807T>C, XM_047417091.1:c.1744T>C, XM_047417090.1:c.1750T>C, XM_047417088.1:c.1831T>C, NM_001145520.1:c.1831T>C, XM_047417092.1:c.1744T>C, XM_047417089.1:c.1831T>C, XM_047417093.1:c.1264T>C

          5.

          rs1486358347 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>- [Show Flanks]
            Chromosome:
            5:34823024 (GRCh38)
            5:34823129 (GRCh37)
            Canonical SPDI:
            NC_000005.10:34823023:GGG:GG
            Gene:
            RAI14 (Varview)
            Functional Consequence:
            frameshift_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            GG=0./0 (ALFA)
            -=0.000008/2 (TOPMED)
            HGVS:
            NC_000005.10:g.34823026del, NC_000005.9:g.34823131del, XM_011514021.3:c.1184del, XM_011514021.2:c.1184del, XM_011514021.1:c.1184del, XM_011514017.3:c.1184del, XM_011514017.2:c.1184del, XM_011514017.1:c.1184del, NM_015577.3:c.1184del, NM_015577.2:c.1184del, XM_006714469.3:c.1184del, XM_006714469.2:c.1184del, XM_006714469.1:c.1184del, XM_011514016.3:c.1202del, XM_011514016.2:c.1202del, XM_011514016.1:c.1163del, XM_011514025.3:c.1115del, XM_011514025.2:c.1115del, XM_011514025.1:c.1076del, NM_001145525.2:c.1193del, NM_001145525.1:c.1193del, NM_001145521.2:c.1184del, NM_001145521.1:c.1184del, XM_011514018.2:c.1184del, XM_011514018.1:c.1184del, XM_011514019.2:c.1184del, XM_011514019.1:c.1184del, XM_011514020.2:c.1184del, XM_011514020.1:c.1184del, XM_017009335.2:c.1097del, XM_017009335.1:c.1097del, NM_001145523.2:c.1160del, NM_001145523.1:c.1160del, NM_001145522.2:c.1097del, NM_001145522.1:c.1097del, XM_011514022.2:c.1184del, XM_011514022.1:c.1184del, XM_024446017.2:c.1160del, XM_024446017.1:c.1160del, XM_047417091.1:c.1097del, XM_047417090.1:c.1103del, XM_047417088.1:c.1184del, NM_001145520.1:c.1184del, XM_047417092.1:c.1097del, XM_047417089.1:c.1184del, XM_047417093.1:c.617del, XP_011512323.1:p.Gly395fs, XP_011512319.1:p.Gly395fs, NP_056392.2:p.Gly395fs, XP_006714532.1:p.Gly395fs, XP_011512318.2:p.Gly401fs, XP_011512327.2:p.Gly372fs, NP_001138997.1:p.Gly398fs, NP_001138993.1:p.Gly395fs, XP_011512320.1:p.Gly395fs, XP_011512321.1:p.Gly395fs, XP_011512322.1:p.Gly395fs, XP_016864824.1:p.Gly366fs, NP_001138995.1:p.Gly387fs, NP_001138994.1:p.Gly366fs, XP_011512324.1:p.Gly395fs, XP_024301785.1:p.Gly387fs, XP_047273047.1:p.Gly366fs, XP_047273046.1:p.Gly368fs, XP_047273044.1:p.Gly395fs, NP_001138992.1:p.Gly395fs, XP_047273048.1:p.Gly366fs, XP_047273045.1:p.Gly395fs, XP_047273049.1:p.Gly206fs

            6.

            rs1484533436 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              5:34826476 (GRCh38)
              5:34826581 (GRCh37)
              Canonical SPDI:
              NC_000005.10:34826475:G:A
              Gene:
              RAI14 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.34826476G>A, NC_000005.9:g.34826581G>A, XM_011514021.3:c.2796G>A, XM_011514021.2:c.2796G>A, XM_011514021.1:c.2796G>A, XM_011514017.3:c.2796G>A, XM_011514017.2:c.2796G>A, XM_011514017.1:c.2796G>A, NM_015577.3:c.2796G>A, NM_015577.2:c.2796G>A, XM_006714469.3:c.2796G>A, XM_006714469.2:c.2796G>A, XM_006714469.1:c.2796G>A, XM_011514016.3:c.2814G>A, XM_011514016.2:c.2814G>A, XM_011514016.1:c.2775G>A, XM_011514025.3:c.2727G>A, XM_011514025.2:c.2727G>A, XM_011514025.1:c.2688G>A, NM_001145525.2:c.2805G>A, NM_001145525.1:c.2805G>A, NM_001145521.2:c.2796G>A, NM_001145521.1:c.2796G>A, XM_011514018.2:c.2796G>A, XM_011514018.1:c.2796G>A, XM_011514019.2:c.2796G>A, XM_011514019.1:c.2796G>A, XM_011514020.2:c.2796G>A, XM_011514020.1:c.2796G>A, XM_017009335.2:c.2709G>A, XM_017009335.1:c.2709G>A, NM_001145523.2:c.2772G>A, NM_001145523.1:c.2772G>A, NM_001145522.2:c.2709G>A, NM_001145522.1:c.2709G>A, XM_011514022.2:c.2796G>A, XM_011514022.1:c.2796G>A, XM_024446017.2:c.2772G>A, XM_024446017.1:c.2772G>A, XM_047417091.1:c.2709G>A, XM_047417090.1:c.2715G>A, XM_047417088.1:c.2796G>A, NM_001145520.1:c.2796G>A, XM_047417092.1:c.2709G>A, XM_047417089.1:c.2796G>A, XM_047417093.1:c.2229G>A

              7.

              rs1483968569 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                5:34795968 (GRCh38)
                5:34796073 (GRCh37)
                Canonical SPDI:
                NC_000005.10:34795967:T:C
                Gene:
                RAI14 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                NC_000005.10:g.34795968T>C, NC_000005.9:g.34796073T>C, XM_011514021.3:c.197T>C, XM_011514021.2:c.197T>C, XM_011514021.1:c.197T>C, XM_011514017.3:c.197T>C, XM_011514017.2:c.197T>C, XM_011514017.1:c.197T>C, NM_015577.3:c.197T>C, NM_015577.2:c.197T>C, XM_006714469.3:c.197T>C, XM_006714469.2:c.197T>C, XM_006714469.1:c.197T>C, XM_011514016.3:c.215T>C, XM_011514016.2:c.215T>C, XM_011514016.1:c.176T>C, XM_011514025.3:c.215T>C, XM_011514025.2:c.215T>C, XM_011514025.1:c.176T>C, NM_001145525.2:c.206T>C, NM_001145525.1:c.206T>C, NM_001145521.2:c.197T>C, NM_001145521.1:c.197T>C, XM_011514018.2:c.197T>C, XM_011514018.1:c.197T>C, XM_011514019.2:c.197T>C, XM_011514019.1:c.197T>C, XM_011514020.2:c.197T>C, XM_011514020.1:c.197T>C, XM_017009335.2:c.197T>C, XM_017009335.1:c.197T>C, NM_001145523.2:c.173T>C, NM_001145523.1:c.173T>C, NM_001145522.2:c.197T>C, NM_001145522.1:c.197T>C, XM_011514022.2:c.197T>C, XM_011514022.1:c.197T>C, XM_024446017.2:c.173T>C, XM_024446017.1:c.173T>C, XM_047417091.1:c.197T>C, XM_047417090.1:c.203T>C, XM_047417088.1:c.197T>C, NM_001145520.1:c.197T>C, XM_047417092.1:c.197T>C, XM_047417089.1:c.197T>C, XP_011512323.1:p.Val66Ala, XP_011512319.1:p.Val66Ala, NP_056392.2:p.Val66Ala, XP_006714532.1:p.Val66Ala, XP_011512318.2:p.Val72Ala, XP_011512327.2:p.Val72Ala, NP_001138997.1:p.Val69Ala, NP_001138993.1:p.Val66Ala, XP_011512320.1:p.Val66Ala, XP_011512321.1:p.Val66Ala, XP_011512322.1:p.Val66Ala, XP_016864824.1:p.Val66Ala, NP_001138995.1:p.Val58Ala, NP_001138994.1:p.Val66Ala, XP_011512324.1:p.Val66Ala, XP_024301785.1:p.Val58Ala, XP_047273047.1:p.Val66Ala, XP_047273046.1:p.Val68Ala, XP_047273044.1:p.Val66Ala, NP_001138992.1:p.Val66Ala, XP_047273048.1:p.Val66Ala, XP_047273045.1:p.Val66Ala

                8.

                rs1483552007 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  T>- [Show Flanks]
                  Chromosome:
                  5:34811770 (GRCh38)
                  5:34811875 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:34811769:T:
                  Gene:
                  RAI14 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000005.10:g.34811770del, NC_000005.9:g.34811875del, XM_011514021.3:c.561del, XM_011514021.2:c.561del, XM_011514021.1:c.561del, XM_011514017.3:c.561del, XM_011514017.2:c.561del, XM_011514017.1:c.561del, NM_015577.3:c.561del, NM_015577.2:c.561del, XM_006714469.3:c.561del, XM_006714469.2:c.561del, XM_006714469.1:c.561del, XM_011514016.3:c.579del, XM_011514016.2:c.579del, XM_011514016.1:c.540del, XM_011514025.3:c.579del, XM_011514025.2:c.579del, XM_011514025.1:c.540del, NM_001145525.2:c.570del, NM_001145525.1:c.570del, NM_001145521.2:c.561del, NM_001145521.1:c.561del, XM_011514018.2:c.561del, XM_011514018.1:c.561del, XM_011514019.2:c.561del, XM_011514019.1:c.561del, XM_011514020.2:c.561del, XM_011514020.1:c.561del, XM_017009335.2:c.561del, XM_017009335.1:c.561del, NM_001145523.2:c.537del, NM_001145523.1:c.537del, NM_001145522.2:c.561del, NM_001145522.1:c.561del, XM_011514022.2:c.561del, XM_011514022.1:c.561del, XM_024446017.2:c.537del, XM_024446017.1:c.537del, XM_047417091.1:c.561del, XM_047417090.1:c.567del, XM_047417088.1:c.561del, NM_001145520.1:c.561del, XM_047417092.1:c.561del, XM_047417089.1:c.561del, XM_047417093.1:c.-7del, XP_011512323.1:p.Ala188fs, XP_011512319.1:p.Ala188fs, NP_056392.2:p.Ala188fs, XP_006714532.1:p.Ala188fs, XP_011512318.2:p.Ala194fs, XP_011512327.2:p.Ala194fs, NP_001138997.1:p.Ala191fs, NP_001138993.1:p.Ala188fs, XP_011512320.1:p.Ala188fs, XP_011512321.1:p.Ala188fs, XP_011512322.1:p.Ala188fs, XP_016864824.1:p.Ala188fs, NP_001138995.1:p.Ala180fs, NP_001138994.1:p.Ala188fs, XP_011512324.1:p.Ala188fs, XP_024301785.1:p.Ala180fs, XP_047273047.1:p.Ala188fs, XP_047273046.1:p.Ala190fs, XP_047273044.1:p.Ala188fs, NP_001138992.1:p.Ala188fs, XP_047273048.1:p.Ala188fs, XP_047273045.1:p.Ala188fs

                  9.

                  rs1482314034 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    5:34821741 (GRCh38)
                    5:34821846 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:34821740:G:C
                    Gene:
                    RAI14 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000005.10:g.34821741G>C, NC_000005.9:g.34821846G>C, XM_011514021.3:c.1004G>C, XM_011514021.2:c.1004G>C, XM_011514021.1:c.1004G>C, XM_011514017.3:c.1004G>C, XM_011514017.2:c.1004G>C, XM_011514017.1:c.1004G>C, NM_015577.3:c.1004G>C, NM_015577.2:c.1004G>C, XM_006714469.3:c.1004G>C, XM_006714469.2:c.1004G>C, XM_006714469.1:c.1004G>C, XM_011514016.3:c.1022G>C, XM_011514016.2:c.1022G>C, XM_011514016.1:c.983G>C, XM_011514025.3:c.935G>C, XM_011514025.2:c.935G>C, XM_011514025.1:c.896G>C, NM_001145525.2:c.1013G>C, NM_001145525.1:c.1013G>C, NM_001145521.2:c.1004G>C, NM_001145521.1:c.1004G>C, XM_011514018.2:c.1004G>C, XM_011514018.1:c.1004G>C, XM_011514019.2:c.1004G>C, XM_011514019.1:c.1004G>C, XM_011514020.2:c.1004G>C, XM_011514020.1:c.1004G>C, XM_017009335.2:c.917G>C, XM_017009335.1:c.917G>C, NM_001145523.2:c.980G>C, NM_001145523.1:c.980G>C, NM_001145522.2:c.917G>C, NM_001145522.1:c.917G>C, XM_011514022.2:c.1004G>C, XM_011514022.1:c.1004G>C, XM_024446017.2:c.980G>C, XM_024446017.1:c.980G>C, XM_047417091.1:c.917G>C, XM_047417090.1:c.923G>C, XM_047417088.1:c.1004G>C, NM_001145520.1:c.1004G>C, XM_047417092.1:c.917G>C, XM_047417089.1:c.1004G>C, XM_047417093.1:c.437G>C, XP_011512323.1:p.Ser335Thr, XP_011512319.1:p.Ser335Thr, NP_056392.2:p.Ser335Thr, XP_006714532.1:p.Ser335Thr, XP_011512318.2:p.Ser341Thr, XP_011512327.2:p.Ser312Thr, NP_001138997.1:p.Ser338Thr, NP_001138993.1:p.Ser335Thr, XP_011512320.1:p.Ser335Thr, XP_011512321.1:p.Ser335Thr, XP_011512322.1:p.Ser335Thr, XP_016864824.1:p.Ser306Thr, NP_001138995.1:p.Ser327Thr, NP_001138994.1:p.Ser306Thr, XP_011512324.1:p.Ser335Thr, XP_024301785.1:p.Ser327Thr, XP_047273047.1:p.Ser306Thr, XP_047273046.1:p.Ser308Thr, XP_047273044.1:p.Ser335Thr, NP_001138992.1:p.Ser335Thr, XP_047273048.1:p.Ser306Thr, XP_047273045.1:p.Ser335Thr, XP_047273049.1:p.Ser146Thr

                    10.

                    rs1482005775 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:34823185 (GRCh38)
                      5:34823290 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:34823184:C:T
                      Gene:
                      RAI14 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_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.34823185C>T, NC_000005.9:g.34823290C>T, XM_011514021.3:c.1343C>T, XM_011514021.2:c.1343C>T, XM_011514021.1:c.1343C>T, XM_011514017.3:c.1343C>T, XM_011514017.2:c.1343C>T, XM_011514017.1:c.1343C>T, NM_015577.3:c.1343C>T, NM_015577.2:c.1343C>T, XM_006714469.3:c.1343C>T, XM_006714469.2:c.1343C>T, XM_006714469.1:c.1343C>T, XM_011514016.3:c.1361C>T, XM_011514016.2:c.1361C>T, XM_011514016.1:c.1322C>T, XM_011514025.3:c.1274C>T, XM_011514025.2:c.1274C>T, XM_011514025.1:c.1235C>T, NM_001145525.2:c.1352C>T, NM_001145525.1:c.1352C>T, NM_001145521.2:c.1343C>T, NM_001145521.1:c.1343C>T, XM_011514018.2:c.1343C>T, XM_011514018.1:c.1343C>T, XM_011514019.2:c.1343C>T, XM_011514019.1:c.1343C>T, XM_011514020.2:c.1343C>T, XM_011514020.1:c.1343C>T, XM_017009335.2:c.1256C>T, XM_017009335.1:c.1256C>T, NM_001145523.2:c.1319C>T, NM_001145523.1:c.1319C>T, NM_001145522.2:c.1256C>T, NM_001145522.1:c.1256C>T, XM_011514022.2:c.1343C>T, XM_011514022.1:c.1343C>T, XM_024446017.2:c.1319C>T, XM_024446017.1:c.1319C>T, XM_047417091.1:c.1256C>T, XM_047417090.1:c.1262C>T, XM_047417088.1:c.1343C>T, NM_001145520.1:c.1343C>T, XM_047417092.1:c.1256C>T, XM_047417089.1:c.1343C>T, XM_047417093.1:c.776C>T, XP_011512323.1:p.Ser448Phe, XP_011512319.1:p.Ser448Phe, NP_056392.2:p.Ser448Phe, XP_006714532.1:p.Ser448Phe, XP_011512318.2:p.Ser454Phe, XP_011512327.2:p.Ser425Phe, NP_001138997.1:p.Ser451Phe, NP_001138993.1:p.Ser448Phe, XP_011512320.1:p.Ser448Phe, XP_011512321.1:p.Ser448Phe, XP_011512322.1:p.Ser448Phe, XP_016864824.1:p.Ser419Phe, NP_001138995.1:p.Ser440Phe, NP_001138994.1:p.Ser419Phe, XP_011512324.1:p.Ser448Phe, XP_024301785.1:p.Ser440Phe, XP_047273047.1:p.Ser419Phe, XP_047273046.1:p.Ser421Phe, XP_047273044.1:p.Ser448Phe, NP_001138992.1:p.Ser448Phe, XP_047273048.1:p.Ser419Phe, XP_047273045.1:p.Ser448Phe, XP_047273049.1:p.Ser259Phe

                      11.

                      rs1481940202 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        5:34823238 (GRCh38)
                        5:34823343 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:34823237:C:G
                        Gene:
                        RAI14 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000005.10:g.34823238C>G, NC_000005.9:g.34823343C>G, XM_011514021.3:c.1396C>G, XM_011514021.2:c.1396C>G, XM_011514021.1:c.1396C>G, XM_011514017.3:c.1396C>G, XM_011514017.2:c.1396C>G, XM_011514017.1:c.1396C>G, NM_015577.3:c.1396C>G, NM_015577.2:c.1396C>G, XM_006714469.3:c.1396C>G, XM_006714469.2:c.1396C>G, XM_006714469.1:c.1396C>G, XM_011514016.3:c.1414C>G, XM_011514016.2:c.1414C>G, XM_011514016.1:c.1375C>G, XM_011514025.3:c.1327C>G, XM_011514025.2:c.1327C>G, XM_011514025.1:c.1288C>G, NM_001145525.2:c.1405C>G, NM_001145525.1:c.1405C>G, NM_001145521.2:c.1396C>G, NM_001145521.1:c.1396C>G, XM_011514018.2:c.1396C>G, XM_011514018.1:c.1396C>G, XM_011514019.2:c.1396C>G, XM_011514019.1:c.1396C>G, XM_011514020.2:c.1396C>G, XM_011514020.1:c.1396C>G, XM_017009335.2:c.1309C>G, XM_017009335.1:c.1309C>G, NM_001145523.2:c.1372C>G, NM_001145523.1:c.1372C>G, NM_001145522.2:c.1309C>G, NM_001145522.1:c.1309C>G, XM_011514022.2:c.1396C>G, XM_011514022.1:c.1396C>G, XM_024446017.2:c.1372C>G, XM_024446017.1:c.1372C>G, XM_047417091.1:c.1309C>G, XM_047417090.1:c.1315C>G, XM_047417088.1:c.1396C>G, NM_001145520.1:c.1396C>G, XM_047417092.1:c.1309C>G, XM_047417089.1:c.1396C>G, XM_047417093.1:c.829C>G, XP_011512323.1:p.Leu466Val, XP_011512319.1:p.Leu466Val, NP_056392.2:p.Leu466Val, XP_006714532.1:p.Leu466Val, XP_011512318.2:p.Leu472Val, XP_011512327.2:p.Leu443Val, NP_001138997.1:p.Leu469Val, NP_001138993.1:p.Leu466Val, XP_011512320.1:p.Leu466Val, XP_011512321.1:p.Leu466Val, XP_011512322.1:p.Leu466Val, XP_016864824.1:p.Leu437Val, NP_001138995.1:p.Leu458Val, NP_001138994.1:p.Leu437Val, XP_011512324.1:p.Leu466Val, XP_024301785.1:p.Leu458Val, XP_047273047.1:p.Leu437Val, XP_047273046.1:p.Leu439Val, XP_047273044.1:p.Leu466Val, NP_001138992.1:p.Leu466Val, XP_047273048.1:p.Leu437Val, XP_047273045.1:p.Leu466Val, XP_047273049.1:p.Leu277Val

                        12.

                        rs1480967824 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:34807808 (GRCh38)
                          5:34807913 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:34807807:C:T
                          Gene:
                          RAI14 (Varview)
                          Functional Consequence:
                          synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000005.10:g.34807808C>T, NC_000005.9:g.34807913C>T, XM_011514021.3:c.330C>T, XM_011514021.2:c.330C>T, XM_011514021.1:c.330C>T, XM_011514017.3:c.330C>T, XM_011514017.2:c.330C>T, XM_011514017.1:c.330C>T, NM_015577.3:c.330C>T, NM_015577.2:c.330C>T, XM_006714469.3:c.330C>T, XM_006714469.2:c.330C>T, XM_006714469.1:c.330C>T, XM_011514016.3:c.348C>T, XM_011514016.2:c.348C>T, XM_011514016.1:c.309C>T, XM_011514025.3:c.348C>T, XM_011514025.2:c.348C>T, XM_011514025.1:c.309C>T, NM_001145525.2:c.339C>T, NM_001145525.1:c.339C>T, NM_001145521.2:c.330C>T, NM_001145521.1:c.330C>T, XM_011514018.2:c.330C>T, XM_011514018.1:c.330C>T, XM_011514019.2:c.330C>T, XM_011514019.1:c.330C>T, XM_011514020.2:c.330C>T, XM_011514020.1:c.330C>T, XM_017009335.2:c.330C>T, XM_017009335.1:c.330C>T, NM_001145523.2:c.306C>T, NM_001145523.1:c.306C>T, NM_001145522.2:c.330C>T, NM_001145522.1:c.330C>T, XM_011514022.2:c.330C>T, XM_011514022.1:c.330C>T, XM_024446017.2:c.306C>T, XM_024446017.1:c.306C>T, XM_047417091.1:c.330C>T, XM_047417090.1:c.336C>T, XM_047417088.1:c.330C>T, NM_001145520.1:c.330C>T, XM_047417092.1:c.330C>T, XM_047417089.1:c.330C>T, XM_047417093.1:c.-238C>T

                          13.

                          rs1479527666 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            5:34824061 (GRCh38)
                            5:34824166 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:34824060:T:
                            Gene:
                            RAI14 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.000071/1 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000005.10:g.34824061del, NC_000005.9:g.34824166del, XM_011514021.3:c.2219del, XM_011514021.2:c.2219del, XM_011514021.1:c.2219del, XM_011514017.3:c.2219del, XM_011514017.2:c.2219del, XM_011514017.1:c.2219del, NM_015577.3:c.2219del, NM_015577.2:c.2219del, XM_006714469.3:c.2219del, XM_006714469.2:c.2219del, XM_006714469.1:c.2219del, XM_011514016.3:c.2237del, XM_011514016.2:c.2237del, XM_011514016.1:c.2198del, XM_011514025.3:c.2150del, XM_011514025.2:c.2150del, XM_011514025.1:c.2111del, NM_001145525.2:c.2228del, NM_001145525.1:c.2228del, NM_001145521.2:c.2219del, NM_001145521.1:c.2219del, XM_011514018.2:c.2219del, XM_011514018.1:c.2219del, XM_011514019.2:c.2219del, XM_011514019.1:c.2219del, XM_011514020.2:c.2219del, XM_011514020.1:c.2219del, XM_017009335.2:c.2132del, XM_017009335.1:c.2132del, NM_001145523.2:c.2195del, NM_001145523.1:c.2195del, NM_001145522.2:c.2132del, NM_001145522.1:c.2132del, XM_011514022.2:c.2219del, XM_011514022.1:c.2219del, XM_024446017.2:c.2195del, XM_024446017.1:c.2195del, XM_047417091.1:c.2132del, XM_047417090.1:c.2138del, XM_047417088.1:c.2219del, NM_001145520.1:c.2219del, XM_047417092.1:c.2132del, XM_047417089.1:c.2219del, XM_047417093.1:c.1652del, XP_011512323.1:p.Leu740fs, XP_011512319.1:p.Leu740fs, NP_056392.2:p.Leu740fs, XP_006714532.1:p.Leu740fs, XP_011512318.2:p.Leu746fs, XP_011512327.2:p.Leu717fs, NP_001138997.1:p.Leu743fs, NP_001138993.1:p.Leu740fs, XP_011512320.1:p.Leu740fs, XP_011512321.1:p.Leu740fs, XP_011512322.1:p.Leu740fs, XP_016864824.1:p.Leu711fs, NP_001138995.1:p.Leu732fs, NP_001138994.1:p.Leu711fs, XP_011512324.1:p.Leu740fs, XP_024301785.1:p.Leu732fs, XP_047273047.1:p.Leu711fs, XP_047273046.1:p.Leu713fs, XP_047273044.1:p.Leu740fs, NP_001138992.1:p.Leu740fs, XP_047273048.1:p.Leu711fs, XP_047273045.1:p.Leu740fs, XP_047273049.1:p.Leu551fs

                            14.

                            rs1478422156 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:34814660 (GRCh38)
                              5:34814765 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:34814659:A:G
                              Gene:
                              RAI14 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.34814660A>G, NC_000005.9:g.34814765A>G, XM_011514021.3:c.930A>G, XM_011514021.2:c.930A>G, XM_011514021.1:c.930A>G, XM_011514017.3:c.930A>G, XM_011514017.2:c.930A>G, XM_011514017.1:c.930A>G, NM_015577.3:c.930A>G, NM_015577.2:c.930A>G, XM_006714469.3:c.930A>G, XM_006714469.2:c.930A>G, XM_006714469.1:c.930A>G, XM_011514016.3:c.948A>G, XM_011514016.2:c.948A>G, XM_011514016.1:c.909A>G, XM_011514025.3:c.861A>G, XM_011514025.2:c.861A>G, XM_011514025.1:c.822A>G, NM_001145525.2:c.939A>G, NM_001145525.1:c.939A>G, NM_001145521.2:c.930A>G, NM_001145521.1:c.930A>G, XM_011514018.2:c.930A>G, XM_011514018.1:c.930A>G, XM_011514019.2:c.930A>G, XM_011514019.1:c.930A>G, XM_011514020.2:c.930A>G, XM_011514020.1:c.930A>G, XM_017009335.2:c.843A>G, XM_017009335.1:c.843A>G, NM_001145523.2:c.906A>G, NM_001145523.1:c.906A>G, NM_001145522.2:c.843A>G, NM_001145522.1:c.843A>G, XM_011514022.2:c.930A>G, XM_011514022.1:c.930A>G, XM_024446017.2:c.906A>G, XM_024446017.1:c.906A>G, XM_047417091.1:c.843A>G, XM_047417090.1:c.849A>G, XM_047417088.1:c.930A>G, NM_001145520.1:c.930A>G, XM_047417092.1:c.843A>G, XM_047417089.1:c.930A>G, XM_047417093.1:c.363A>G

                              15.

                              rs1477444635 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                5:34811072 (GRCh38)
                                5:34811177 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:34811071:C:G
                                Gene:
                                RAI14 (Varview)
                                Functional Consequence:
                                missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000005.10:g.34811072C>G, NC_000005.9:g.34811177C>G, XM_011514021.3:c.511C>G, XM_011514021.2:c.511C>G, XM_011514021.1:c.511C>G, XM_011514017.3:c.511C>G, XM_011514017.2:c.511C>G, XM_011514017.1:c.511C>G, NM_015577.3:c.511C>G, NM_015577.2:c.511C>G, XM_006714469.3:c.511C>G, XM_006714469.2:c.511C>G, XM_006714469.1:c.511C>G, XM_011514016.3:c.529C>G, XM_011514016.2:c.529C>G, XM_011514016.1:c.490C>G, XM_011514025.3:c.529C>G, XM_011514025.2:c.529C>G, XM_011514025.1:c.490C>G, NM_001145525.2:c.520C>G, NM_001145525.1:c.520C>G, NM_001145521.2:c.511C>G, NM_001145521.1:c.511C>G, XM_011514018.2:c.511C>G, XM_011514018.1:c.511C>G, XM_011514019.2:c.511C>G, XM_011514019.1:c.511C>G, XM_011514020.2:c.511C>G, XM_011514020.1:c.511C>G, XM_017009335.2:c.511C>G, XM_017009335.1:c.511C>G, NM_001145523.2:c.487C>G, NM_001145523.1:c.487C>G, NM_001145522.2:c.511C>G, NM_001145522.1:c.511C>G, XM_011514022.2:c.511C>G, XM_011514022.1:c.511C>G, XM_024446017.2:c.487C>G, XM_024446017.1:c.487C>G, XM_047417091.1:c.511C>G, XM_047417090.1:c.517C>G, XM_047417088.1:c.511C>G, NM_001145520.1:c.511C>G, XM_047417092.1:c.511C>G, XM_047417089.1:c.511C>G, XM_047417093.1:c.-57C>G, XP_011512323.1:p.Leu171Val, XP_011512319.1:p.Leu171Val, NP_056392.2:p.Leu171Val, XP_006714532.1:p.Leu171Val, XP_011512318.2:p.Leu177Val, XP_011512327.2:p.Leu177Val, NP_001138997.1:p.Leu174Val, NP_001138993.1:p.Leu171Val, XP_011512320.1:p.Leu171Val, XP_011512321.1:p.Leu171Val, XP_011512322.1:p.Leu171Val, XP_016864824.1:p.Leu171Val, NP_001138995.1:p.Leu163Val, NP_001138994.1:p.Leu171Val, XP_011512324.1:p.Leu171Val, XP_024301785.1:p.Leu163Val, XP_047273047.1:p.Leu171Val, XP_047273046.1:p.Leu173Val, XP_047273044.1:p.Leu171Val, NP_001138992.1:p.Leu171Val, XP_047273048.1:p.Leu171Val, XP_047273045.1:p.Leu171Val

                                16.

                                rs1474844178 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:34824108 (GRCh38)
                                  5:34824213 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:34824107:G:A
                                  Gene:
                                  RAI14 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000102/2 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000016/4 (GnomAD_exomes)
                                  HGVS:
                                  NC_000005.10:g.34824108G>A, NC_000005.9:g.34824213G>A, XM_011514021.3:c.2266G>A, XM_011514021.2:c.2266G>A, XM_011514021.1:c.2266G>A, XM_011514017.3:c.2266G>A, XM_011514017.2:c.2266G>A, XM_011514017.1:c.2266G>A, NM_015577.3:c.2266G>A, NM_015577.2:c.2266G>A, XM_006714469.3:c.2266G>A, XM_006714469.2:c.2266G>A, XM_006714469.1:c.2266G>A, XM_011514016.3:c.2284G>A, XM_011514016.2:c.2284G>A, XM_011514016.1:c.2245G>A, XM_011514025.3:c.2197G>A, XM_011514025.2:c.2197G>A, XM_011514025.1:c.2158G>A, NM_001145525.2:c.2275G>A, NM_001145525.1:c.2275G>A, NM_001145521.2:c.2266G>A, NM_001145521.1:c.2266G>A, XM_011514018.2:c.2266G>A, XM_011514018.1:c.2266G>A, XM_011514019.2:c.2266G>A, XM_011514019.1:c.2266G>A, XM_011514020.2:c.2266G>A, XM_011514020.1:c.2266G>A, XM_017009335.2:c.2179G>A, XM_017009335.1:c.2179G>A, NM_001145523.2:c.2242G>A, NM_001145523.1:c.2242G>A, NM_001145522.2:c.2179G>A, NM_001145522.1:c.2179G>A, XM_011514022.2:c.2266G>A, XM_011514022.1:c.2266G>A, XM_024446017.2:c.2242G>A, XM_024446017.1:c.2242G>A, XM_047417091.1:c.2179G>A, XM_047417090.1:c.2185G>A, XM_047417088.1:c.2266G>A, NM_001145520.1:c.2266G>A, XM_047417092.1:c.2179G>A, XM_047417089.1:c.2266G>A, XM_047417093.1:c.1699G>A, XP_011512323.1:p.Glu756Lys, XP_011512319.1:p.Glu756Lys, NP_056392.2:p.Glu756Lys, XP_006714532.1:p.Glu756Lys, XP_011512318.2:p.Glu762Lys, XP_011512327.2:p.Glu733Lys, NP_001138997.1:p.Glu759Lys, NP_001138993.1:p.Glu756Lys, XP_011512320.1:p.Glu756Lys, XP_011512321.1:p.Glu756Lys, XP_011512322.1:p.Glu756Lys, XP_016864824.1:p.Glu727Lys, NP_001138995.1:p.Glu748Lys, NP_001138994.1:p.Glu727Lys, XP_011512324.1:p.Glu756Lys, XP_024301785.1:p.Glu748Lys, XP_047273047.1:p.Glu727Lys, XP_047273046.1:p.Glu729Lys, XP_047273044.1:p.Glu756Lys, NP_001138992.1:p.Glu756Lys, XP_047273048.1:p.Glu727Lys, XP_047273045.1:p.Glu756Lys, XP_047273049.1:p.Glu567Lys

                                  17.

                                  rs1473151545 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:34811890 (GRCh38)
                                    5:34811995 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:34811889:C:T
                                    Gene:
                                    RAI14 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000005.10:g.34811890C>T, NC_000005.9:g.34811995C>T, XM_011514021.3:c.681C>T, XM_011514021.2:c.681C>T, XM_011514021.1:c.681C>T, XM_011514017.3:c.681C>T, XM_011514017.2:c.681C>T, XM_011514017.1:c.681C>T, NM_015577.3:c.681C>T, NM_015577.2:c.681C>T, XM_006714469.3:c.681C>T, XM_006714469.2:c.681C>T, XM_006714469.1:c.681C>T, XM_011514016.3:c.699C>T, XM_011514016.2:c.699C>T, XM_011514016.1:c.660C>T, XM_011514025.3:c.699C>T, XM_011514025.2:c.699C>T, XM_011514025.1:c.660C>T, NM_001145525.2:c.690C>T, NM_001145525.1:c.690C>T, NM_001145521.2:c.681C>T, NM_001145521.1:c.681C>T, XM_011514018.2:c.681C>T, XM_011514018.1:c.681C>T, XM_011514019.2:c.681C>T, XM_011514019.1:c.681C>T, XM_011514020.2:c.681C>T, XM_011514020.1:c.681C>T, XM_017009335.2:c.681C>T, XM_017009335.1:c.681C>T, NM_001145523.2:c.657C>T, NM_001145523.1:c.657C>T, NM_001145522.2:c.681C>T, NM_001145522.1:c.681C>T, XM_011514022.2:c.681C>T, XM_011514022.1:c.681C>T, XM_024446017.2:c.657C>T, XM_024446017.1:c.657C>T, XM_047417091.1:c.681C>T, XM_047417090.1:c.687C>T, XM_047417088.1:c.681C>T, NM_001145520.1:c.681C>T, XM_047417092.1:c.681C>T, XM_047417089.1:c.681C>T, XM_047417093.1:c.114C>T

                                    18.

                                    rs1466388409 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:34823032 (GRCh38)
                                      5:34823137 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:34823031:C:T
                                      Gene:
                                      RAI14 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.34823032C>T, NC_000005.9:g.34823137C>T, XM_011514021.3:c.1190C>T, XM_011514021.2:c.1190C>T, XM_011514021.1:c.1190C>T, XM_011514017.3:c.1190C>T, XM_011514017.2:c.1190C>T, XM_011514017.1:c.1190C>T, NM_015577.3:c.1190C>T, NM_015577.2:c.1190C>T, XM_006714469.3:c.1190C>T, XM_006714469.2:c.1190C>T, XM_006714469.1:c.1190C>T, XM_011514016.3:c.1208C>T, XM_011514016.2:c.1208C>T, XM_011514016.1:c.1169C>T, XM_011514025.3:c.1121C>T, XM_011514025.2:c.1121C>T, XM_011514025.1:c.1082C>T, NM_001145525.2:c.1199C>T, NM_001145525.1:c.1199C>T, NM_001145521.2:c.1190C>T, NM_001145521.1:c.1190C>T, XM_011514018.2:c.1190C>T, XM_011514018.1:c.1190C>T, XM_011514019.2:c.1190C>T, XM_011514019.1:c.1190C>T, XM_011514020.2:c.1190C>T, XM_011514020.1:c.1190C>T, XM_017009335.2:c.1103C>T, XM_017009335.1:c.1103C>T, NM_001145523.2:c.1166C>T, NM_001145523.1:c.1166C>T, NM_001145522.2:c.1103C>T, NM_001145522.1:c.1103C>T, XM_011514022.2:c.1190C>T, XM_011514022.1:c.1190C>T, XM_024446017.2:c.1166C>T, XM_024446017.1:c.1166C>T, XM_047417091.1:c.1103C>T, XM_047417090.1:c.1109C>T, XM_047417088.1:c.1190C>T, NM_001145520.1:c.1190C>T, XM_047417092.1:c.1103C>T, XM_047417089.1:c.1190C>T, XM_047417093.1:c.623C>T, XP_011512323.1:p.Ser397Phe, XP_011512319.1:p.Ser397Phe, NP_056392.2:p.Ser397Phe, XP_006714532.1:p.Ser397Phe, XP_011512318.2:p.Ser403Phe, XP_011512327.2:p.Ser374Phe, NP_001138997.1:p.Ser400Phe, NP_001138993.1:p.Ser397Phe, XP_011512320.1:p.Ser397Phe, XP_011512321.1:p.Ser397Phe, XP_011512322.1:p.Ser397Phe, XP_016864824.1:p.Ser368Phe, NP_001138995.1:p.Ser389Phe, NP_001138994.1:p.Ser368Phe, XP_011512324.1:p.Ser397Phe, XP_024301785.1:p.Ser389Phe, XP_047273047.1:p.Ser368Phe, XP_047273046.1:p.Ser370Phe, XP_047273044.1:p.Ser397Phe, NP_001138992.1:p.Ser397Phe, XP_047273048.1:p.Ser368Phe, XP_047273045.1:p.Ser397Phe, XP_047273049.1:p.Ser208Phe

                                      19.

                                      rs1463427539 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        5:34823510 (GRCh38)
                                        5:34823615 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:34823509:A:G
                                        Gene:
                                        RAI14 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000005.10:g.34823510A>G, NC_000005.9:g.34823615A>G, XM_011514021.3:c.1668A>G, XM_011514021.2:c.1668A>G, XM_011514021.1:c.1668A>G, XM_011514017.3:c.1668A>G, XM_011514017.2:c.1668A>G, XM_011514017.1:c.1668A>G, NM_015577.3:c.1668A>G, NM_015577.2:c.1668A>G, XM_006714469.3:c.1668A>G, XM_006714469.2:c.1668A>G, XM_006714469.1:c.1668A>G, XM_011514016.3:c.1686A>G, XM_011514016.2:c.1686A>G, XM_011514016.1:c.1647A>G, XM_011514025.3:c.1599A>G, XM_011514025.2:c.1599A>G, XM_011514025.1:c.1560A>G, NM_001145525.2:c.1677A>G, NM_001145525.1:c.1677A>G, NM_001145521.2:c.1668A>G, NM_001145521.1:c.1668A>G, XM_011514018.2:c.1668A>G, XM_011514018.1:c.1668A>G, XM_011514019.2:c.1668A>G, XM_011514019.1:c.1668A>G, XM_011514020.2:c.1668A>G, XM_011514020.1:c.1668A>G, XM_017009335.2:c.1581A>G, XM_017009335.1:c.1581A>G, NM_001145523.2:c.1644A>G, NM_001145523.1:c.1644A>G, NM_001145522.2:c.1581A>G, NM_001145522.1:c.1581A>G, XM_011514022.2:c.1668A>G, XM_011514022.1:c.1668A>G, XM_024446017.2:c.1644A>G, XM_024446017.1:c.1644A>G, XM_047417091.1:c.1581A>G, XM_047417090.1:c.1587A>G, XM_047417088.1:c.1668A>G, NM_001145520.1:c.1668A>G, XM_047417092.1:c.1581A>G, XM_047417089.1:c.1668A>G, XM_047417093.1:c.1101A>G

                                        20.

                                        rs1462492633 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:34823888 (GRCh38)
                                          5:34823993 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:34823887:G:A
                                          Gene:
                                          RAI14 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000008/2 (GnomAD_exomes)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000602/10 (TOMMO)
                                          HGVS:
                                          NC_000005.10:g.34823888G>A, NC_000005.9:g.34823993G>A, XM_011514021.3:c.2046G>A, XM_011514021.2:c.2046G>A, XM_011514021.1:c.2046G>A, XM_011514017.3:c.2046G>A, XM_011514017.2:c.2046G>A, XM_011514017.1:c.2046G>A, NM_015577.3:c.2046G>A, NM_015577.2:c.2046G>A, XM_006714469.3:c.2046G>A, XM_006714469.2:c.2046G>A, XM_006714469.1:c.2046G>A, XM_011514016.3:c.2064G>A, XM_011514016.2:c.2064G>A, XM_011514016.1:c.2025G>A, XM_011514025.3:c.1977G>A, XM_011514025.2:c.1977G>A, XM_011514025.1:c.1938G>A, NM_001145525.2:c.2055G>A, NM_001145525.1:c.2055G>A, NM_001145521.2:c.2046G>A, NM_001145521.1:c.2046G>A, XM_011514018.2:c.2046G>A, XM_011514018.1:c.2046G>A, XM_011514019.2:c.2046G>A, XM_011514019.1:c.2046G>A, XM_011514020.2:c.2046G>A, XM_011514020.1:c.2046G>A, XM_017009335.2:c.1959G>A, XM_017009335.1:c.1959G>A, NM_001145523.2:c.2022G>A, NM_001145523.1:c.2022G>A, NM_001145522.2:c.1959G>A, NM_001145522.1:c.1959G>A, XM_011514022.2:c.2046G>A, XM_011514022.1:c.2046G>A, XM_024446017.2:c.2022G>A, XM_024446017.1:c.2022G>A, XM_047417091.1:c.1959G>A, XM_047417090.1:c.1965G>A, XM_047417088.1:c.2046G>A, NM_001145520.1:c.2046G>A, XM_047417092.1:c.1959G>A, XM_047417089.1:c.2046G>A, XM_047417093.1:c.1479G>A

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