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Items: 1 to 20 of 284

1.

rs1490560334 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:70229264 (GRCh38)
    2:70456396 (GRCh37)
    Canonical SPDI:
    NC_000002.12:70229263:T:C
    Gene:
    TIA1 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000002.12:g.70229264T>C, NC_000002.11:g.70456396T>C, NG_029967.1:g.24384A>G, NM_022173.4:c.277A>G, NM_022173.3:c.277A>G, NM_022173.2:c.277A>G, NM_022037.4:c.277A>G, NM_022037.3:c.277A>G, NM_022037.2:c.277A>G, NR_147230.2:n.475A>G, NR_147230.1:n.640A>G, NR_147225.2:n.475A>G, NR_147225.1:n.640A>G, NR_147223.2:n.475A>G, NR_147223.1:n.640A>G, NM_001351517.2:c.-367A>G, NM_001351517.1:c.-367A>G, NR_147227.2:n.470A>G, NR_147227.1:n.635A>G, NR_147221.2:n.475A>G, NR_147221.1:n.640A>G, NR_147222.2:n.470A>G, NR_147222.1:n.635A>G, NR_147228.2:n.475A>G, NR_147228.1:n.640A>G, NR_147231.2:n.475A>G, NR_147231.1:n.640A>G, NR_147219.2:n.475A>G, NR_147219.1:n.640A>G, NR_147226.2:n.475A>G, NR_147226.1:n.640A>G, NR_147224.2:n.475A>G, NR_147224.1:n.640A>G, NR_147220.2:n.470A>G, NR_147220.1:n.635A>G, NM_001351515.2:c.-113A>G, NM_001351515.1:c.-113A>G, NR_147229.2:n.475A>G, NR_147229.1:n.640A>G, NM_001351525.2:c.-177A>G, NM_001351525.1:c.-177A>G, NR_147232.2:n.378A>G, NR_147232.1:n.543A>G, NM_001351508.2:c.277A>G, NM_001351508.1:c.277A>G, NM_001351524.2:c.-144A>G, NM_001351524.1:c.-144A>G, NM_001351509.2:c.283A>G, NM_001351509.1:c.283A>G, NM_001351510.2:c.277A>G, NM_001351510.1:c.277A>G, NM_001351514.2:c.82A>G, NM_001351514.1:c.82A>G, NM_001351516.2:c.277A>G, NM_001351516.1:c.277A>G, NM_001351518.2:c.277A>G, NM_001351518.1:c.277A>G, NM_001351520.2:c.283A>G, NM_001351520.1:c.283A>G, NM_001351522.2:c.277A>G, NM_001351522.1:c.277A>G, NM_001351519.2:c.277A>G, NM_001351519.1:c.277A>G, NM_001351521.2:c.277A>G, NM_001351521.1:c.277A>G, NM_001351523.2:c.82A>G, NM_001351523.1:c.82A>G, NR_147216.1:n.382A>G, NR_147217.1:n.382A>G, NR_147218.1:n.382A>G, NM_001351511.1:c.166A>G, NM_001351512.1:c.172A>G, NM_001351513.1:c.166A>G, XM_005264528.6:c.82A>G, XM_005264528.5:c.82A>G, XM_005264528.4:c.82A>G, XM_005264528.3:c.82A>G, XM_005264528.2:c.82A>G, XM_005264528.1:c.82A>G, XM_047445627.1:c.-4365A>G, XM_047445625.1:c.-3769A>G, XM_047445631.1:c.-3787A>G, XM_047445632.1:c.-3650A>G, XM_047445626.1:c.-2199A>G, XM_047445628.1:c.-742A>G, XM_047445630.1:c.-742A>G, XM_047445633.1:c.277A>G, XM_047445634.1:c.277A>G, NP_071505.2:p.Ser93Gly, NP_071320.2:p.Asn93Asp, NP_001338437.1:p.Ser93Gly, NP_001338438.1:p.Asn95Asp, NP_001338439.1:p.Asn93Asp, NP_001338443.1:p.Asn28Asp, NP_001338445.1:p.Ser93Gly, NP_001338447.1:p.Ser93Gly, NP_001338449.1:p.Ser95Gly, NP_001338451.1:p.Ser93Gly, NP_001338448.1:p.Ser93Gly, NP_001338450.1:p.Asn93Asp, NP_001338452.1:p.Asn28Asp, NP_001338440.1:p.Ser56Gly, NP_001338441.1:p.Asn58Asp, NP_001338442.1:p.Asn56Asp, XP_005264585.1:p.Ser28Gly, XP_047301589.1:p.Ser93Gly, XP_047301590.1:p.Ser93Gly

    2.

    rs1489739740 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:70214355 (GRCh38)
      2:70441487 (GRCh37)
      Canonical SPDI:
      NC_000002.12:70214354:C:T
      Gene:
      TIA1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      T=0.00006/1 (TOMMO)
      HGVS:
      NC_000002.12:g.70214355C>T, NC_000002.11:g.70441487C>T, NG_029967.1:g.39293G>A, NM_022173.4:c.1028G>A, NM_022173.3:c.1028G>A, NM_022173.2:c.1028G>A, NM_022037.4:c.995G>A, NM_022037.3:c.995G>A, NM_022037.2:c.995G>A, NR_147230.2:n.1544G>A, NR_147230.1:n.1709G>A, NR_147225.2:n.1478G>A, NR_147225.1:n.1643G>A, NR_147223.2:n.1445G>A, NR_147223.1:n.1610G>A, NM_001351517.2:c.605G>A, NM_001351517.1:c.605G>A, NR_147227.2:n.1396G>A, NR_147227.1:n.1561G>A, NR_147221.2:n.1392G>A, NR_147221.1:n.1557G>A, NR_147222.2:n.1387G>A, NR_147222.1:n.1552G>A, NR_147228.2:n.1359G>A, NR_147228.1:n.1524G>A, NR_147231.2:n.1356G>A, NR_147231.1:n.1521G>A, NR_147219.2:n.1335G>A, NR_147219.1:n.1500G>A, NR_147226.2:n.1326G>A, NR_147226.1:n.1491G>A, NR_147224.2:n.1323G>A, NR_147224.1:n.1488G>A, NR_147220.2:n.1321G>A, NR_147220.1:n.1486G>A, NM_001351515.2:c.725G>A, NM_001351515.1:c.725G>A, NR_147229.2:n.1302G>A, NR_147229.1:n.1467G>A, NM_001351525.2:c.608G>A, NM_001351525.1:c.608G>A, NR_147232.2:n.1229G>A, NR_147232.1:n.1394G>A, NM_001351508.2:c.1025G>A, NM_001351508.1:c.1025G>A, NM_001351524.2:c.608G>A, NM_001351524.1:c.608G>A, NM_001351509.2:c.1001G>A, NM_001351509.1:c.1001G>A, NM_001351510.2:c.992G>A, NM_001351510.1:c.992G>A, NM_001351514.2:c.800G>A, NM_001351514.1:c.800G>A, NR_147216.1:n.1385G>A, NR_147217.1:n.1266G>A, NR_147218.1:n.1263G>A, NM_001351511.1:c.917G>A, NM_001351512.1:c.890G>A, NM_001351513.1:c.884G>A, XM_005264528.6:c.833G>A, XM_005264528.5:c.833G>A, XM_005264528.4:c.833G>A, XM_005264528.3:c.833G>A, XM_005264528.2:c.833G>A, XM_005264528.1:c.833G>A, XM_047445627.1:c.725G>A, XM_047445625.1:c.728G>A, XM_047445631.1:c.608G>A, XM_047445632.1:c.608G>A, XM_047445626.1:c.728G>A, XM_047445628.1:c.725G>A, XM_047445630.1:c.722G>A, XM_047445629.1:c.725G>A, NP_071505.2:p.Gly343Glu, NP_071320.2:p.Gly332Glu, NP_001338446.1:p.Gly202Glu, NP_001338444.1:p.Gly242Glu, NP_001338454.1:p.Gly203Glu, NP_001338437.1:p.Gly342Glu, NP_001338453.1:p.Gly203Glu, NP_001338438.1:p.Gly334Glu, NP_001338439.1:p.Gly331Glu, NP_001338443.1:p.Gly267Glu, NP_001338440.1:p.Gly306Glu, NP_001338441.1:p.Gly297Glu, NP_001338442.1:p.Gly295Glu, XP_005264585.1:p.Gly278Glu, XP_047301583.1:p.Gly242Glu, XP_047301581.1:p.Gly243Glu, XP_047301587.1:p.Gly203Glu, XP_047301588.1:p.Gly203Glu, XP_047301582.1:p.Gly243Glu, XP_047301584.1:p.Gly242Glu, XP_047301586.1:p.Gly241Glu, XP_047301585.1:p.Gly242Glu

      3.

      rs1487955247 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:70229287 (GRCh38)
        2:70456419 (GRCh37)
        Canonical SPDI:
        NC_000002.12:70229286:C:T
        Gene:
        TIA1 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000002.12:g.70229287C>T, NC_000002.11:g.70456419C>T, NG_029967.1:g.24361G>A, NM_022173.4:c.254G>A, NM_022173.3:c.254G>A, NM_022173.2:c.254G>A, NM_022037.4:c.254G>A, NM_022037.3:c.254G>A, NM_022037.2:c.254G>A, NR_147230.2:n.452G>A, NR_147230.1:n.617G>A, NR_147225.2:n.452G>A, NR_147225.1:n.617G>A, NR_147223.2:n.452G>A, NR_147223.1:n.617G>A, NM_001351517.2:c.-390G>A, NM_001351517.1:c.-390G>A, NR_147227.2:n.447G>A, NR_147227.1:n.612G>A, NR_147221.2:n.452G>A, NR_147221.1:n.617G>A, NR_147222.2:n.447G>A, NR_147222.1:n.612G>A, NR_147228.2:n.452G>A, NR_147228.1:n.617G>A, NR_147231.2:n.452G>A, NR_147231.1:n.617G>A, NR_147219.2:n.452G>A, NR_147219.1:n.617G>A, NR_147226.2:n.452G>A, NR_147226.1:n.617G>A, NR_147224.2:n.452G>A, NR_147224.1:n.617G>A, NR_147220.2:n.447G>A, NR_147220.1:n.612G>A, NM_001351515.2:c.-136G>A, NM_001351515.1:c.-136G>A, NR_147229.2:n.452G>A, NR_147229.1:n.617G>A, NM_001351525.2:c.-200G>A, NM_001351525.1:c.-200G>A, NR_147232.2:n.355G>A, NR_147232.1:n.520G>A, NM_001351508.2:c.254G>A, NM_001351508.1:c.254G>A, NM_001351524.2:c.-167G>A, NM_001351524.1:c.-167G>A, NM_001351509.2:c.260G>A, NM_001351509.1:c.260G>A, NM_001351510.2:c.254G>A, NM_001351510.1:c.254G>A, NM_001351514.2:c.59G>A, NM_001351514.1:c.59G>A, NM_001351516.2:c.254G>A, NM_001351516.1:c.254G>A, NM_001351518.2:c.254G>A, NM_001351518.1:c.254G>A, NM_001351520.2:c.260G>A, NM_001351520.1:c.260G>A, NM_001351522.2:c.254G>A, NM_001351522.1:c.254G>A, NM_001351519.2:c.254G>A, NM_001351519.1:c.254G>A, NM_001351521.2:c.254G>A, NM_001351521.1:c.254G>A, NM_001351523.2:c.59G>A, NM_001351523.1:c.59G>A, NR_147216.1:n.359G>A, NR_147217.1:n.359G>A, NR_147218.1:n.359G>A, NM_001351511.1:c.143G>A, NM_001351512.1:c.149G>A, NM_001351513.1:c.143G>A, XM_005264528.6:c.59G>A, XM_005264528.5:c.59G>A, XM_005264528.4:c.59G>A, XM_005264528.3:c.59G>A, XM_005264528.2:c.59G>A, XM_005264528.1:c.59G>A, XM_047445627.1:c.-4388G>A, XM_047445625.1:c.-3792G>A, XM_047445631.1:c.-3810G>A, XM_047445632.1:c.-3673G>A, XM_047445626.1:c.-2222G>A, XM_047445628.1:c.-765G>A, XM_047445630.1:c.-765G>A, XM_047445633.1:c.254G>A, XM_047445634.1:c.254G>A, NP_071505.2:p.Ser85Asn, NP_071320.2:p.Ser85Asn, NP_001338437.1:p.Ser85Asn, NP_001338438.1:p.Ser87Asn, NP_001338439.1:p.Ser85Asn, NP_001338443.1:p.Ser20Asn, NP_001338445.1:p.Ser85Asn, NP_001338447.1:p.Ser85Asn, NP_001338449.1:p.Ser87Asn, NP_001338451.1:p.Ser85Asn, NP_001338448.1:p.Ser85Asn, NP_001338450.1:p.Ser85Asn, NP_001338452.1:p.Ser20Asn, NP_001338440.1:p.Ser48Asn, NP_001338441.1:p.Ser50Asn, NP_001338442.1:p.Ser48Asn, XP_005264585.1:p.Ser20Asn, XP_047301589.1:p.Ser85Asn, XP_047301590.1:p.Ser85Asn

        4.

        rs1485829059 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:70248421 (GRCh38)
          2:70475553 (GRCh37)
          Canonical SPDI:
          NC_000002.12:70248420:C:T
          Gene:
          TIA1 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
          HGVS:
          NC_000002.12:g.70248421C>T, NC_000002.11:g.70475553C>T, NG_029967.1:g.5227G>A, NM_022173.4:c.10G>A, NM_022173.3:c.10G>A, NM_022173.2:c.10G>A, NM_022037.4:c.10G>A, NM_022037.3:c.10G>A, NM_022037.2:c.10G>A, NR_147230.2:n.208G>A, NR_147230.1:n.373G>A, NR_147225.2:n.208G>A, NR_147225.1:n.373G>A, NR_147223.2:n.208G>A, NR_147223.1:n.373G>A, NM_001351517.2:c.-629G>A, NM_001351517.1:c.-629G>A, NR_147227.2:n.208G>A, NR_147227.1:n.373G>A, NR_147221.2:n.208G>A, NR_147221.1:n.373G>A, NR_147222.2:n.208G>A, NR_147222.1:n.373G>A, NR_147228.2:n.208G>A, NR_147228.1:n.373G>A, NR_147231.2:n.208G>A, NR_147231.1:n.373G>A, NR_147219.2:n.208G>A, NR_147219.1:n.373G>A, NR_147226.2:n.208G>A, NR_147226.1:n.373G>A, NR_147224.2:n.208G>A, NR_147224.1:n.373G>A, NR_147220.2:n.208G>A, NR_147220.1:n.373G>A, NM_001351515.2:c.-380G>A, NM_001351515.1:c.-380G>A, NR_147229.2:n.208G>A, NR_147229.1:n.373G>A, NM_001351525.2:c.-444G>A, NM_001351525.1:c.-444G>A, NR_147232.2:n.208G>A, NR_147232.1:n.373G>A, NM_001351508.2:c.10G>A, NM_001351508.1:c.10G>A, NM_001351524.2:c.-406G>A, NM_001351524.1:c.-406G>A, NM_001351509.2:c.10G>A, NM_001351509.1:c.10G>A, NM_001351510.2:c.10G>A, NM_001351510.1:c.10G>A, NM_001351514.2:c.-89G>A, NM_001351514.1:c.-89G>A, NM_001351516.2:c.10G>A, NM_001351516.1:c.10G>A, NM_001351518.2:c.10G>A, NM_001351518.1:c.10G>A, NM_001351520.2:c.10G>A, NM_001351520.1:c.10G>A, NM_001351522.2:c.10G>A, NM_001351522.1:c.10G>A, NM_001351519.2:c.10G>A, NM_001351519.1:c.10G>A, NM_001351521.2:c.10G>A, NM_001351521.1:c.10G>A, NM_001351523.2:c.-89G>A, NM_001351523.1:c.-89G>A, XM_005264528.6:c.-89G>A, XM_005264528.5:c.-89G>A, XM_005264528.4:c.-89G>A, XM_005264528.3:c.-89G>A, XM_005264528.2:c.-89G>A, XM_005264528.1:c.-89G>A, XM_047445633.1:c.10G>A, XM_047445634.1:c.10G>A, NP_071505.2:p.Glu4Lys, NP_071320.2:p.Glu4Lys, NP_001338437.1:p.Glu4Lys, NP_001338438.1:p.Glu4Lys, NP_001338439.1:p.Glu4Lys, NP_001338445.1:p.Glu4Lys, NP_001338447.1:p.Glu4Lys, NP_001338449.1:p.Glu4Lys, NP_001338451.1:p.Glu4Lys, NP_001338448.1:p.Glu4Lys, NP_001338450.1:p.Glu4Lys, XP_047301589.1:p.Glu4Lys, XP_047301590.1:p.Glu4Lys

          5.

          rs1478623811 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:70227773 (GRCh38)
            2:70454905 (GRCh37)
            Canonical SPDI:
            NC_000002.12:70227772:T:C
            Gene:
            TIA1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.70227773T>C, NC_000002.11:g.70454905T>C, NG_029967.1:g.25875A>G, NM_022173.4:c.360A>G, NM_022173.3:c.360A>G, NM_022173.2:c.360A>G, NM_022037.4:c.327A>G, NM_022037.3:c.327A>G, NM_022037.2:c.327A>G, NR_147230.2:n.677A>G, NR_147230.1:n.842A>G, NR_147225.2:n.677A>G, NR_147225.1:n.842A>G, NR_147223.2:n.644A>G, NR_147223.1:n.809A>G, NM_001351517.2:c.-165A>G, NM_001351517.1:c.-165A>G, NR_147227.2:n.553A>G, NR_147227.1:n.718A>G, NR_147221.2:n.525A>G, NR_147221.1:n.690A>G, NR_147222.2:n.520A>G, NR_147222.1:n.685A>G, NR_147228.2:n.558A>G, NR_147228.1:n.723A>G, NR_147231.2:n.558A>G, NR_147231.1:n.723A>G, NR_147219.2:n.558A>G, NR_147219.1:n.723A>G, NR_147226.2:n.525A>G, NR_147226.1:n.690A>G, NR_147224.2:n.525A>G, NR_147224.1:n.690A>G, NR_147220.2:n.520A>G, NR_147220.1:n.685A>G, NM_001351515.2:c.57A>G, NM_001351515.1:c.57A>G, NR_147229.2:n.525A>G, NR_147229.1:n.690A>G, NM_001351525.2:c.-127A>G, NM_001351525.1:c.-127A>G, NR_147232.2:n.428A>G, NR_147232.1:n.593A>G, NM_001351508.2:c.360A>G, NM_001351508.1:c.360A>G, NM_001351524.2:c.-61A>G, NM_001351524.1:c.-61A>G, NM_001351509.2:c.333A>G, NM_001351509.1:c.333A>G, NM_001351510.2:c.327A>G, NM_001351510.1:c.327A>G, NM_001351514.2:c.132A>G, NM_001351514.1:c.132A>G, NM_001351516.2:c.360A>G, NM_001351516.1:c.360A>G, NM_001351518.2:c.360A>G, NM_001351518.1:c.360A>G, NM_001351520.2:c.485A>G, NM_001351520.1:c.485A>G, NM_001351522.2:c.360A>G, NM_001351522.1:c.360A>G, NM_001351519.2:c.360A>G, NM_001351519.1:c.360A>G, NM_001351521.2:c.327A>G, NM_001351521.1:c.327A>G, NM_001351523.2:c.132A>G, NM_001351523.1:c.132A>G, NR_147216.1:n.584A>G, NR_147217.1:n.465A>G, NR_147218.1:n.465A>G, NM_001351511.1:c.249A>G, NM_001351512.1:c.222A>G, NM_001351513.1:c.216A>G, XM_005264528.6:c.165A>G, XM_005264528.5:c.165A>G, XM_005264528.4:c.165A>G, XM_005264528.3:c.165A>G, XM_005264528.2:c.165A>G, XM_005264528.1:c.165A>G, XM_047445627.1:c.-3046A>G, XM_047445625.1:c.-3046A>G, XM_047445631.1:c.-2468A>G, XM_047445632.1:c.-2331A>G, XM_047445626.1:c.-880A>G, XM_047445628.1:c.57A>G, XM_047445630.1:c.57A>G, XM_047445629.1:c.57A>G, XM_047445633.1:c.479A>G, XM_047445634.1:c.479A>G, NP_001338449.1:p.Lys162Arg, XP_047301589.1:p.Lys160Arg, XP_047301590.1:p.Lys160Arg

            6.

            rs1474401416 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              2:70212840 (GRCh38)
              2:70439972 (GRCh37)
              Canonical SPDI:
              NC_000002.12:70212836:TGTGT:TGT
              Gene:
              TIA1 (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              TGT=0./0 (ALFA)
              HGVS:
              NC_000002.12:g.70212838GT[1], NC_000002.11:g.70439970GT[1], NG_029967.1:g.40808CA[1], NM_022173.4:c.1042_1043del, NM_022173.3:c.1042_1043del, NM_022173.2:c.1042_1043del, NM_022037.4:c.1009_1010del, NM_022037.3:c.1009_1010del, NM_022037.2:c.1009_1010del, NR_147230.2:n.1556CA[1], NR_147230.1:n.1721CA[1], NR_147225.2:n.1490CA[1], NR_147225.1:n.1655CA[1], NR_147223.2:n.1457CA[1], NR_147223.1:n.1622CA[1], NM_001351517.2:c.619_620del, NM_001351517.1:c.619_620del, NR_147227.2:n.1408CA[1], NR_147227.1:n.1573CA[1], NR_147221.2:n.1404CA[1], NR_147221.1:n.1569CA[1], NR_147222.2:n.1399CA[1], NR_147222.1:n.1564CA[1], NR_147228.2:n.1371CA[1], NR_147228.1:n.1536CA[1], NR_147231.2:n.1368CA[1], NR_147231.1:n.1533CA[1], NR_147219.2:n.1347CA[1], NR_147219.1:n.1512CA[1], NR_147226.2:n.1338CA[1], NR_147226.1:n.1503CA[1], NR_147224.2:n.1335CA[1], NR_147224.1:n.1500CA[1], NR_147220.2:n.1333CA[1], NR_147220.1:n.1498CA[1], NM_001351515.2:c.739_740del, NM_001351515.1:c.739_740del, NR_147229.2:n.1314CA[1], NR_147229.1:n.1479CA[1], NM_001351525.2:c.622_623del, NM_001351525.1:c.622_623del, NR_147232.2:n.1241CA[1], NR_147232.1:n.1406CA[1], NM_001351508.2:c.1039_1040del, NM_001351508.1:c.1039_1040del, NM_001351524.2:c.622_623del, NM_001351524.1:c.622_623del, NM_001351509.2:c.1015_1016del, NM_001351509.1:c.1015_1016del, NM_001351510.2:c.1006_1007del, NM_001351510.1:c.1006_1007del, NM_001351514.2:c.814_815del, NM_001351514.1:c.814_815del, NR_147216.1:n.1397CA[1], NR_147217.1:n.1278CA[1], NR_147218.1:n.1275CA[1], NM_001351511.1:c.931_932del, NM_001351512.1:c.904_905del, NM_001351513.1:c.898_899del, XM_005264528.6:c.847_848del, XM_005264528.5:c.847_848del, XM_005264528.4:c.847_848del, XM_005264528.3:c.847_848del, XM_005264528.2:c.847_848del, XM_005264528.1:c.847_848del, XM_047445627.1:c.739_740del, XM_047445625.1:c.742_743del, XM_047445631.1:c.622_623del, XM_047445632.1:c.622_623del, XM_047445626.1:c.742_743del, XM_047445628.1:c.739_740del, XM_047445630.1:c.736_737del, XM_047445629.1:c.739_740del, NP_071505.2:p.Gln348fs, NP_071320.2:p.Gln337fs, NP_001338446.1:p.Gln207fs, NP_001338444.1:p.Gln247fs, NP_001338454.1:p.Gln208fs, NP_001338437.1:p.Gln347fs, NP_001338453.1:p.Gln208fs, NP_001338438.1:p.Gln339fs, NP_001338439.1:p.Gln336fs, NP_001338443.1:p.Gln272fs, NP_001338440.1:p.Gln311fs, NP_001338441.1:p.Gln302fs, NP_001338442.1:p.Gln300fs, XP_005264585.1:p.Gln283fs, XP_047301583.1:p.Gln247fs, XP_047301581.1:p.Gln248fs, XP_047301587.1:p.Gln208fs, XP_047301588.1:p.Gln208fs, XP_047301582.1:p.Gln248fs, XP_047301584.1:p.Gln247fs, XP_047301586.1:p.Gln246fs, XP_047301585.1:p.Gln247fs

              7.

              rs1468634852 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:70212801 (GRCh38)
                2:70439933 (GRCh37)
                Canonical SPDI:
                NC_000002.12:70212800:A:G
                Gene:
                TIA1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.70212801A>G, NC_000002.11:g.70439933A>G, NG_029967.1:g.40847T>C, NM_022173.4:c.1079T>C, NM_022173.3:c.1079T>C, NM_022173.2:c.1079T>C, NM_022037.4:c.1046T>C, NM_022037.3:c.1046T>C, NM_022037.2:c.1046T>C, NR_147230.2:n.1595T>C, NR_147230.1:n.1760T>C, NR_147225.2:n.1529T>C, NR_147225.1:n.1694T>C, NR_147223.2:n.1496T>C, NR_147223.1:n.1661T>C, NM_001351517.2:c.656T>C, NM_001351517.1:c.656T>C, NR_147227.2:n.1447T>C, NR_147227.1:n.1612T>C, NR_147221.2:n.1443T>C, NR_147221.1:n.1608T>C, NR_147222.2:n.1438T>C, NR_147222.1:n.1603T>C, NR_147228.2:n.1410T>C, NR_147228.1:n.1575T>C, NR_147231.2:n.1407T>C, NR_147231.1:n.1572T>C, NR_147219.2:n.1386T>C, NR_147219.1:n.1551T>C, NR_147226.2:n.1377T>C, NR_147226.1:n.1542T>C, NR_147224.2:n.1374T>C, NR_147224.1:n.1539T>C, NR_147220.2:n.1372T>C, NR_147220.1:n.1537T>C, NM_001351515.2:c.776T>C, NM_001351515.1:c.776T>C, NR_147229.2:n.1353T>C, NR_147229.1:n.1518T>C, NM_001351525.2:c.659T>C, NM_001351525.1:c.659T>C, NR_147232.2:n.1280T>C, NR_147232.1:n.1445T>C, NM_001351508.2:c.1076T>C, NM_001351508.1:c.1076T>C, NM_001351524.2:c.659T>C, NM_001351524.1:c.659T>C, NM_001351509.2:c.1052T>C, NM_001351509.1:c.1052T>C, NM_001351510.2:c.1043T>C, NM_001351510.1:c.1043T>C, NM_001351514.2:c.851T>C, NM_001351514.1:c.851T>C, NR_147216.1:n.1436T>C, NR_147217.1:n.1317T>C, NR_147218.1:n.1314T>C, NM_001351511.1:c.968T>C, NM_001351512.1:c.941T>C, NM_001351513.1:c.935T>C, XM_005264528.6:c.884T>C, XM_005264528.5:c.884T>C, XM_005264528.4:c.884T>C, XM_005264528.3:c.884T>C, XM_005264528.2:c.884T>C, XM_005264528.1:c.884T>C, XM_047445627.1:c.776T>C, XM_047445625.1:c.779T>C, XM_047445631.1:c.659T>C, XM_047445632.1:c.659T>C, XM_047445626.1:c.779T>C, XM_047445628.1:c.776T>C, XM_047445630.1:c.773T>C, XM_047445629.1:c.776T>C, NP_071505.2:p.Val360Ala, NP_071320.2:p.Val349Ala, NP_001338446.1:p.Val219Ala, NP_001338444.1:p.Val259Ala, NP_001338454.1:p.Val220Ala, NP_001338437.1:p.Val359Ala, NP_001338453.1:p.Val220Ala, NP_001338438.1:p.Val351Ala, NP_001338439.1:p.Val348Ala, NP_001338443.1:p.Val284Ala, NP_001338440.1:p.Val323Ala, NP_001338441.1:p.Val314Ala, NP_001338442.1:p.Val312Ala, XP_005264585.1:p.Val295Ala, XP_047301583.1:p.Val259Ala, XP_047301581.1:p.Val260Ala, XP_047301587.1:p.Val220Ala, XP_047301588.1:p.Val220Ala, XP_047301582.1:p.Val260Ala, XP_047301584.1:p.Val259Ala, XP_047301586.1:p.Val258Ala, XP_047301585.1:p.Val259Ala

                8.

                rs1464084617 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:70224613 (GRCh38)
                  2:70451745 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:70224612:T:C
                  Gene:
                  TIA1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.70224613T>C, NC_000002.11:g.70451745T>C, NG_029967.1:g.29035A>G, NM_022173.4:c.415A>G, NM_022173.3:c.415A>G, NM_022173.2:c.415A>G, NM_022037.4:c.382A>G, NM_022037.3:c.382A>G, NM_022037.2:c.382A>G, NR_147230.2:n.798A>G, NR_147230.1:n.963A>G, NR_147225.2:n.732A>G, NR_147225.1:n.897A>G, NR_147223.2:n.699A>G, NR_147223.1:n.864A>G, NM_001351517.2:c.-6A>G, NM_001351517.1:c.-6A>G, NR_147227.2:n.674A>G, NR_147227.1:n.839A>G, NR_147221.2:n.646A>G, NR_147221.1:n.811A>G, NR_147222.2:n.641A>G, NR_147222.1:n.806A>G, NR_147228.2:n.613A>G, NR_147228.1:n.778A>G, NR_147231.2:n.613A>G, NR_147231.1:n.778A>G, NR_147219.2:n.613A>G, NR_147219.1:n.778A>G, NR_147226.2:n.580A>G, NR_147226.1:n.745A>G, NR_147224.2:n.580A>G, NR_147224.1:n.745A>G, NR_147220.2:n.575A>G, NR_147220.1:n.740A>G, NM_001351515.2:c.112A>G, NM_001351515.1:c.112A>G, NR_147229.2:n.580A>G, NR_147229.1:n.745A>G, NM_001351525.2:c.-6A>G, NM_001351525.1:c.-6A>G, NR_147232.2:n.483A>G, NR_147232.1:n.648A>G, NM_001351508.2:c.415A>G, NM_001351508.1:c.415A>G, NM_001351524.2:c.-6A>G, NM_001351524.1:c.-6A>G, NM_001351509.2:c.388A>G, NM_001351509.1:c.388A>G, NM_001351510.2:c.382A>G, NM_001351510.1:c.382A>G, NM_001351514.2:c.187A>G, NM_001351514.1:c.187A>G, NM_001351516.2:c.415A>G, NM_001351516.1:c.415A>G, NM_001351518.2:c.415A>G, NM_001351518.1:c.415A>G, NM_001351520.2:c.*48A>G, NM_001351520.1:c.*48A>G, NM_001351522.2:c.*46A>G, NM_001351522.1:c.*46A>G, NM_001351519.2:c.415A>G, NM_001351519.1:c.415A>G, NM_001351521.2:c.382A>G, NM_001351521.1:c.382A>G, NM_001351523.2:c.187A>G, NM_001351523.1:c.187A>G, NR_147216.1:n.639A>G, NR_147217.1:n.520A>G, NR_147218.1:n.520A>G, NM_001351511.1:c.304A>G, NM_001351512.1:c.277A>G, NM_001351513.1:c.271A>G, XM_005264528.6:c.220A>G, XM_005264528.5:c.220A>G, XM_005264528.4:c.220A>G, XM_005264528.3:c.220A>G, XM_005264528.2:c.220A>G, XM_005264528.1:c.220A>G, XM_047445627.1:c.115A>G, XM_047445625.1:c.115A>G, XM_047445631.1:c.-6A>G, XM_047445632.1:c.-6A>G, XM_047445626.1:c.115A>G, XM_047445628.1:c.112A>G, XM_047445630.1:c.112A>G, XM_047445629.1:c.112A>G, XM_047445633.1:c.*3153A>G, XM_047445634.1:c.*987A>G, NP_071505.2:p.Lys139Glu, NP_071320.2:p.Lys128Glu, NP_001338444.1:p.Lys38Glu, NP_001338437.1:p.Lys139Glu, NP_001338438.1:p.Lys130Glu, NP_001338439.1:p.Lys128Glu, NP_001338443.1:p.Lys63Glu, NP_001338445.1:p.Lys139Glu, NP_001338447.1:p.Lys139Glu, NP_001338448.1:p.Lys139Glu, NP_001338450.1:p.Lys128Glu, NP_001338452.1:p.Lys63Glu, NP_001338440.1:p.Lys102Glu, NP_001338441.1:p.Lys93Glu, NP_001338442.1:p.Lys91Glu, XP_005264585.1:p.Lys74Glu, XP_047301583.1:p.Lys39Glu, XP_047301581.1:p.Lys39Glu, XP_047301582.1:p.Lys39Glu, XP_047301584.1:p.Lys38Glu, XP_047301586.1:p.Lys38Glu, XP_047301585.1:p.Lys38Glu

                  9.

                  rs1461358883 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:70212785 (GRCh38)
                    2:70439917 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:70212784:C:T
                    Gene:
                    TIA1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.70212785C>T, NC_000002.11:g.70439917C>T, NG_029967.1:g.40863G>A, NM_022173.4:c.1095G>A, NM_022173.3:c.1095G>A, NM_022173.2:c.1095G>A, NM_022037.4:c.1062G>A, NM_022037.3:c.1062G>A, NM_022037.2:c.1062G>A, NR_147230.2:n.1611G>A, NR_147230.1:n.1776G>A, NR_147225.2:n.1545G>A, NR_147225.1:n.1710G>A, NR_147223.2:n.1512G>A, NR_147223.1:n.1677G>A, NM_001351517.2:c.672G>A, NM_001351517.1:c.672G>A, NR_147227.2:n.1463G>A, NR_147227.1:n.1628G>A, NR_147221.2:n.1459G>A, NR_147221.1:n.1624G>A, NR_147222.2:n.1454G>A, NR_147222.1:n.1619G>A, NR_147228.2:n.1426G>A, NR_147228.1:n.1591G>A, NR_147231.2:n.1423G>A, NR_147231.1:n.1588G>A, NR_147219.2:n.1402G>A, NR_147219.1:n.1567G>A, NR_147226.2:n.1393G>A, NR_147226.1:n.1558G>A, NR_147224.2:n.1390G>A, NR_147224.1:n.1555G>A, NR_147220.2:n.1388G>A, NR_147220.1:n.1553G>A, NM_001351515.2:c.792G>A, NM_001351515.1:c.792G>A, NR_147229.2:n.1369G>A, NR_147229.1:n.1534G>A, NM_001351525.2:c.675G>A, NM_001351525.1:c.675G>A, NR_147232.2:n.1296G>A, NR_147232.1:n.1461G>A, NM_001351508.2:c.1092G>A, NM_001351508.1:c.1092G>A, NM_001351524.2:c.675G>A, NM_001351524.1:c.675G>A, NM_001351509.2:c.1068G>A, NM_001351509.1:c.1068G>A, NM_001351510.2:c.1059G>A, NM_001351510.1:c.1059G>A, NM_001351514.2:c.867G>A, NM_001351514.1:c.867G>A, NR_147216.1:n.1452G>A, NR_147217.1:n.1333G>A, NR_147218.1:n.1330G>A, NM_001351511.1:c.984G>A, NM_001351512.1:c.957G>A, NM_001351513.1:c.951G>A, XM_005264528.6:c.900G>A, XM_005264528.5:c.900G>A, XM_005264528.4:c.900G>A, XM_005264528.3:c.900G>A, XM_005264528.2:c.900G>A, XM_005264528.1:c.900G>A, XM_047445627.1:c.792G>A, XM_047445625.1:c.795G>A, XM_047445631.1:c.675G>A, XM_047445632.1:c.675G>A, XM_047445626.1:c.795G>A, XM_047445628.1:c.792G>A, XM_047445630.1:c.789G>A, XM_047445629.1:c.792G>A

                    10.

                    rs1458707805 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      2:70216405 (GRCh38)
                      2:70443537 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:70216404:T:C,NC_000002.12:70216404:T:G
                      Gene:
                      TIA1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.70216405T>C, NC_000002.12:g.70216405T>G, NC_000002.11:g.70443537T>C, NC_000002.11:g.70443537T>G, NG_029967.1:g.37243A>G, NG_029967.1:g.37243A>C, NM_022173.4:c.678A>G, NM_022173.4:c.678A>C, NM_022173.3:c.678A>G, NM_022173.3:c.678A>C, NM_022173.2:c.678A>G, NM_022173.2:c.678A>C, NM_022037.4:c.645A>G, NM_022037.4:c.645A>C, NM_022037.3:c.645A>G, NM_022037.3:c.645A>C, NM_022037.2:c.645A>G, NM_022037.2:c.645A>C, NR_147230.2:n.1194A>G, NR_147230.2:n.1194A>C, NR_147230.1:n.1359A>G, NR_147230.1:n.1359A>C, NR_147225.2:n.1128A>G, NR_147225.2:n.1128A>C, NR_147225.1:n.1293A>G, NR_147225.1:n.1293A>C, NR_147223.2:n.1095A>G, NR_147223.2:n.1095A>C, NR_147223.1:n.1260A>G, NR_147223.1:n.1260A>C, NM_001351517.2:c.258A>G, NM_001351517.2:c.258A>C, NM_001351517.1:c.258A>G, NM_001351517.1:c.258A>C, NR_147227.2:n.937A>G, NR_147227.2:n.937A>C, NR_147227.1:n.1102A>G, NR_147227.1:n.1102A>C, NR_147221.2:n.1042A>G, NR_147221.2:n.1042A>C, NR_147221.1:n.1207A>G, NR_147221.1:n.1207A>C, NR_147222.2:n.1037A>G, NR_147222.2:n.1037A>C, NR_147222.1:n.1202A>G, NR_147222.1:n.1202A>C, NR_147228.2:n.1009A>G, NR_147228.2:n.1009A>C, NR_147228.1:n.1174A>G, NR_147228.1:n.1174A>C, NR_147231.2:n.1009A>G, NR_147231.2:n.1009A>C, NR_147231.1:n.1174A>G, NR_147231.1:n.1174A>C, NR_147219.2:n.876A>G, NR_147219.2:n.876A>C, NR_147219.1:n.1041A>G, NR_147219.1:n.1041A>C, NR_147226.2:n.976A>G, NR_147226.2:n.976A>C, NR_147226.1:n.1141A>G, NR_147226.1:n.1141A>C, NR_147224.2:n.976A>G, NR_147224.2:n.976A>C, NR_147224.1:n.1141A>G, NR_147224.1:n.1141A>C, NR_147220.2:n.971A>G, NR_147220.2:n.971A>C, NR_147220.1:n.1136A>G, NR_147220.1:n.1136A>C, NM_001351515.2:c.375A>G, NM_001351515.2:c.375A>C, NM_001351515.1:c.375A>G, NM_001351515.1:c.375A>C, NR_147229.2:n.843A>G, NR_147229.2:n.843A>C, NR_147229.1:n.1008A>G, NR_147229.1:n.1008A>C, NM_001351525.2:c.258A>G, NM_001351525.2:c.258A>C, NM_001351525.1:c.258A>G, NM_001351525.1:c.258A>C, NR_147232.2:n.879A>G, NR_147232.2:n.879A>C, NR_147232.1:n.1044A>G, NR_147232.1:n.1044A>C, NM_001351508.2:c.678A>G, NM_001351508.2:c.678A>C, NM_001351508.1:c.678A>G, NM_001351508.1:c.678A>C, NM_001351524.2:c.258A>G, NM_001351524.2:c.258A>C, NM_001351524.1:c.258A>G, NM_001351524.1:c.258A>C, NM_001351509.2:c.651A>G, NM_001351509.2:c.651A>C, NM_001351509.1:c.651A>G, NM_001351509.1:c.651A>C, NM_001351510.2:c.645A>G, NM_001351510.2:c.645A>C, NM_001351510.1:c.645A>G, NM_001351510.1:c.645A>C, NM_001351514.2:c.450A>G, NM_001351514.2:c.450A>C, NM_001351514.1:c.450A>G, NM_001351514.1:c.450A>C, NM_001351516.2:c.678A>G, NM_001351516.2:c.678A>C, NM_001351516.1:c.678A>G, NM_001351516.1:c.678A>C, NR_147216.1:n.1035A>G, NR_147216.1:n.1035A>C, NR_147217.1:n.916A>G, NR_147217.1:n.916A>C, NR_147218.1:n.916A>G, NR_147218.1:n.916A>C, NM_001351511.1:c.567A>G, NM_001351511.1:c.567A>C, NM_001351512.1:c.540A>G, NM_001351512.1:c.540A>C, NM_001351513.1:c.534A>G, NM_001351513.1:c.534A>C, XM_005264528.6:c.483A>G, XM_005264528.6:c.483A>C, XM_005264528.5:c.483A>G, XM_005264528.5:c.483A>C, XM_005264528.4:c.483A>G, XM_005264528.4:c.483A>C, XM_005264528.3:c.483A>G, XM_005264528.3:c.483A>C, XM_005264528.2:c.483A>G, XM_005264528.2:c.483A>C, XM_005264528.1:c.483A>G, XM_005264528.1:c.483A>C, XM_047445627.1:c.378A>G, XM_047445627.1:c.378A>C, XM_047445625.1:c.378A>G, XM_047445625.1:c.378A>C, XM_047445631.1:c.258A>G, XM_047445631.1:c.258A>C, XM_047445632.1:c.258A>G, XM_047445632.1:c.258A>C, XM_047445626.1:c.378A>G, XM_047445626.1:c.378A>C, XM_047445628.1:c.375A>G, XM_047445628.1:c.375A>C, XM_047445630.1:c.375A>G, XM_047445630.1:c.375A>C, XM_047445629.1:c.375A>G, XM_047445629.1:c.375A>C

                      11.

                      rs1454620536 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        2:70212808 (GRCh38)
                        2:70439940 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:70212807:A:C
                        Gene:
                        TIA1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000002.12:g.70212808A>C, NC_000002.11:g.70439940A>C, NG_029967.1:g.40840T>G, NM_022173.4:c.1072T>G, NM_022173.3:c.1072T>G, NM_022173.2:c.1072T>G, NM_022037.4:c.1039T>G, NM_022037.3:c.1039T>G, NM_022037.2:c.1039T>G, NR_147230.2:n.1588T>G, NR_147230.1:n.1753T>G, NR_147225.2:n.1522T>G, NR_147225.1:n.1687T>G, NR_147223.2:n.1489T>G, NR_147223.1:n.1654T>G, NM_001351517.2:c.649T>G, NM_001351517.1:c.649T>G, NR_147227.2:n.1440T>G, NR_147227.1:n.1605T>G, NR_147221.2:n.1436T>G, NR_147221.1:n.1601T>G, NR_147222.2:n.1431T>G, NR_147222.1:n.1596T>G, NR_147228.2:n.1403T>G, NR_147228.1:n.1568T>G, NR_147231.2:n.1400T>G, NR_147231.1:n.1565T>G, NR_147219.2:n.1379T>G, NR_147219.1:n.1544T>G, NR_147226.2:n.1370T>G, NR_147226.1:n.1535T>G, NR_147224.2:n.1367T>G, NR_147224.1:n.1532T>G, NR_147220.2:n.1365T>G, NR_147220.1:n.1530T>G, NM_001351515.2:c.769T>G, NM_001351515.1:c.769T>G, NR_147229.2:n.1346T>G, NR_147229.1:n.1511T>G, NM_001351525.2:c.652T>G, NM_001351525.1:c.652T>G, NR_147232.2:n.1273T>G, NR_147232.1:n.1438T>G, NM_001351508.2:c.1069T>G, NM_001351508.1:c.1069T>G, NM_001351524.2:c.652T>G, NM_001351524.1:c.652T>G, NM_001351509.2:c.1045T>G, NM_001351509.1:c.1045T>G, NM_001351510.2:c.1036T>G, NM_001351510.1:c.1036T>G, NM_001351514.2:c.844T>G, NM_001351514.1:c.844T>G, NR_147216.1:n.1429T>G, NR_147217.1:n.1310T>G, NR_147218.1:n.1307T>G, NM_001351511.1:c.961T>G, NM_001351512.1:c.934T>G, NM_001351513.1:c.928T>G, XM_005264528.6:c.877T>G, XM_005264528.5:c.877T>G, XM_005264528.4:c.877T>G, XM_005264528.3:c.877T>G, XM_005264528.2:c.877T>G, XM_005264528.1:c.877T>G, XM_047445627.1:c.769T>G, XM_047445625.1:c.772T>G, XM_047445631.1:c.652T>G, XM_047445632.1:c.652T>G, XM_047445626.1:c.772T>G, XM_047445628.1:c.769T>G, XM_047445630.1:c.766T>G, XM_047445629.1:c.769T>G, NP_071505.2:p.Tyr358Asp, NP_071320.2:p.Tyr347Asp, NP_001338446.1:p.Tyr217Asp, NP_001338444.1:p.Tyr257Asp, NP_001338454.1:p.Tyr218Asp, NP_001338437.1:p.Tyr357Asp, NP_001338453.1:p.Tyr218Asp, NP_001338438.1:p.Tyr349Asp, NP_001338439.1:p.Tyr346Asp, NP_001338443.1:p.Tyr282Asp, NP_001338440.1:p.Tyr321Asp, NP_001338441.1:p.Tyr312Asp, NP_001338442.1:p.Tyr310Asp, XP_005264585.1:p.Tyr293Asp, XP_047301583.1:p.Tyr257Asp, XP_047301581.1:p.Tyr258Asp, XP_047301587.1:p.Tyr218Asp, XP_047301588.1:p.Tyr218Asp, XP_047301582.1:p.Tyr258Asp, XP_047301584.1:p.Tyr257Asp, XP_047301586.1:p.Tyr256Asp, XP_047301585.1:p.Tyr257Asp

                        12.

                        rs1453824248 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          2:70214352 (GRCh38)
                          2:70441484 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:70214351:A:T
                          Gene:
                          TIA1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.70214352A>T, NC_000002.11:g.70441484A>T, NG_029967.1:g.39296T>A, NM_022173.4:c.1031T>A, NM_022173.3:c.1031T>A, NM_022173.2:c.1031T>A, NM_022037.4:c.998T>A, NM_022037.3:c.998T>A, NM_022037.2:c.998T>A, NR_147230.2:n.1547T>A, NR_147230.1:n.1712T>A, NR_147225.2:n.1481T>A, NR_147225.1:n.1646T>A, NR_147223.2:n.1448T>A, NR_147223.1:n.1613T>A, NM_001351517.2:c.608T>A, NM_001351517.1:c.608T>A, NR_147227.2:n.1399T>A, NR_147227.1:n.1564T>A, NR_147221.2:n.1395T>A, NR_147221.1:n.1560T>A, NR_147222.2:n.1390T>A, NR_147222.1:n.1555T>A, NR_147228.2:n.1362T>A, NR_147228.1:n.1527T>A, NR_147231.2:n.1359T>A, NR_147231.1:n.1524T>A, NR_147219.2:n.1338T>A, NR_147219.1:n.1503T>A, NR_147226.2:n.1329T>A, NR_147226.1:n.1494T>A, NR_147224.2:n.1326T>A, NR_147224.1:n.1491T>A, NR_147220.2:n.1324T>A, NR_147220.1:n.1489T>A, NM_001351515.2:c.728T>A, NM_001351515.1:c.728T>A, NR_147229.2:n.1305T>A, NR_147229.1:n.1470T>A, NM_001351525.2:c.611T>A, NM_001351525.1:c.611T>A, NR_147232.2:n.1232T>A, NR_147232.1:n.1397T>A, NM_001351508.2:c.1028T>A, NM_001351508.1:c.1028T>A, NM_001351524.2:c.611T>A, NM_001351524.1:c.611T>A, NM_001351509.2:c.1004T>A, NM_001351509.1:c.1004T>A, NM_001351510.2:c.995T>A, NM_001351510.1:c.995T>A, NM_001351514.2:c.803T>A, NM_001351514.1:c.803T>A, NR_147216.1:n.1388T>A, NR_147217.1:n.1269T>A, NR_147218.1:n.1266T>A, NM_001351511.1:c.920T>A, NM_001351512.1:c.893T>A, NM_001351513.1:c.887T>A, XM_005264528.6:c.836T>A, XM_005264528.5:c.836T>A, XM_005264528.4:c.836T>A, XM_005264528.3:c.836T>A, XM_005264528.2:c.836T>A, XM_005264528.1:c.836T>A, XM_047445627.1:c.728T>A, XM_047445625.1:c.731T>A, XM_047445631.1:c.611T>A, XM_047445632.1:c.611T>A, XM_047445626.1:c.731T>A, XM_047445628.1:c.728T>A, XM_047445630.1:c.725T>A, XM_047445629.1:c.728T>A, NP_071505.2:p.Phe344Tyr, NP_071320.2:p.Phe333Tyr, NP_001338446.1:p.Phe203Tyr, NP_001338444.1:p.Phe243Tyr, NP_001338454.1:p.Phe204Tyr, NP_001338437.1:p.Phe343Tyr, NP_001338453.1:p.Phe204Tyr, NP_001338438.1:p.Phe335Tyr, NP_001338439.1:p.Phe332Tyr, NP_001338443.1:p.Phe268Tyr, NP_001338440.1:p.Phe307Tyr, NP_001338441.1:p.Phe298Tyr, NP_001338442.1:p.Phe296Tyr, XP_005264585.1:p.Phe279Tyr, XP_047301583.1:p.Phe243Tyr, XP_047301581.1:p.Phe244Tyr, XP_047301587.1:p.Phe204Tyr, XP_047301588.1:p.Phe204Tyr, XP_047301582.1:p.Phe244Tyr, XP_047301584.1:p.Phe243Tyr, XP_047301586.1:p.Phe242Tyr, XP_047301585.1:p.Phe243Tyr

                          13.

                          rs1453661692 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:70214454 (GRCh38)
                            2:70441586 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:70214453:C:T
                            Gene:
                            TIA1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.70214454C>T, NC_000002.11:g.70441586C>T, NG_029967.1:g.39194G>A, NM_022173.4:c.929G>A, NM_022173.3:c.929G>A, NM_022173.2:c.929G>A, NM_022037.4:c.896G>A, NM_022037.3:c.896G>A, NM_022037.2:c.896G>A, NR_147230.2:n.1445G>A, NR_147230.1:n.1610G>A, NR_147225.2:n.1379G>A, NR_147225.1:n.1544G>A, NR_147223.2:n.1346G>A, NR_147223.1:n.1511G>A, NM_001351517.2:c.506G>A, NM_001351517.1:c.506G>A, NR_147227.2:n.1297G>A, NR_147227.1:n.1462G>A, NR_147221.2:n.1293G>A, NR_147221.1:n.1458G>A, NR_147222.2:n.1288G>A, NR_147222.1:n.1453G>A, NR_147228.2:n.1260G>A, NR_147228.1:n.1425G>A, NR_147231.2:n.1257G>A, NR_147231.1:n.1422G>A, NR_147219.2:n.1236G>A, NR_147219.1:n.1401G>A, NR_147226.2:n.1227G>A, NR_147226.1:n.1392G>A, NR_147224.2:n.1224G>A, NR_147224.1:n.1389G>A, NR_147220.2:n.1222G>A, NR_147220.1:n.1387G>A, NM_001351515.2:c.626G>A, NM_001351515.1:c.626G>A, NR_147229.2:n.1203G>A, NR_147229.1:n.1368G>A, NM_001351525.2:c.509G>A, NM_001351525.1:c.509G>A, NR_147232.2:n.1130G>A, NR_147232.1:n.1295G>A, NM_001351508.2:c.926G>A, NM_001351508.1:c.926G>A, NM_001351524.2:c.509G>A, NM_001351524.1:c.509G>A, NM_001351509.2:c.902G>A, NM_001351509.1:c.902G>A, NM_001351510.2:c.893G>A, NM_001351510.1:c.893G>A, NM_001351514.2:c.701G>A, NM_001351514.1:c.701G>A, NR_147216.1:n.1286G>A, NR_147217.1:n.1167G>A, NR_147218.1:n.1164G>A, NM_001351511.1:c.818G>A, NM_001351512.1:c.791G>A, NM_001351513.1:c.785G>A, XM_005264528.6:c.734G>A, XM_005264528.5:c.734G>A, XM_005264528.4:c.734G>A, XM_005264528.3:c.734G>A, XM_005264528.2:c.734G>A, XM_005264528.1:c.734G>A, XM_047445627.1:c.626G>A, XM_047445625.1:c.629G>A, XM_047445631.1:c.509G>A, XM_047445632.1:c.509G>A, XM_047445626.1:c.629G>A, XM_047445628.1:c.626G>A, XM_047445630.1:c.623G>A, XM_047445629.1:c.626G>A, NP_071505.2:p.Gly310Asp, NP_071320.2:p.Gly299Asp, NP_001338446.1:p.Gly169Asp, NP_001338444.1:p.Gly209Asp, NP_001338454.1:p.Gly170Asp, NP_001338437.1:p.Gly309Asp, NP_001338453.1:p.Gly170Asp, NP_001338438.1:p.Gly301Asp, NP_001338439.1:p.Gly298Asp, NP_001338443.1:p.Gly234Asp, NP_001338440.1:p.Gly273Asp, NP_001338441.1:p.Gly264Asp, NP_001338442.1:p.Gly262Asp, XP_005264585.1:p.Gly245Asp, XP_047301583.1:p.Gly209Asp, XP_047301581.1:p.Gly210Asp, XP_047301587.1:p.Gly170Asp, XP_047301588.1:p.Gly170Asp, XP_047301582.1:p.Gly210Asp, XP_047301584.1:p.Gly209Asp, XP_047301586.1:p.Gly208Asp, XP_047301585.1:p.Gly209Asp

                            14.

                            rs1451225199 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:70215442 (GRCh38)
                              2:70442574 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:70215441:T:C
                              Gene:
                              TIA1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.70215442T>C, NC_000002.11:g.70442574T>C, NG_029967.1:g.38206A>G, NM_022173.4:c.817A>G, NM_022173.3:c.817A>G, NM_022173.2:c.817A>G, NM_022037.4:c.784A>G, NM_022037.3:c.784A>G, NM_022037.2:c.784A>G, NR_147230.2:n.1333A>G, NR_147230.1:n.1498A>G, NR_147225.2:n.1267A>G, NR_147225.1:n.1432A>G, NR_147223.2:n.1234A>G, NR_147223.1:n.1399A>G, NM_001351517.2:c.397A>G, NM_001351517.1:c.397A>G, NR_147227.2:n.1076A>G, NR_147227.1:n.1241A>G, NR_147221.2:n.1181A>G, NR_147221.1:n.1346A>G, NR_147222.2:n.1176A>G, NR_147222.1:n.1341A>G, NR_147228.2:n.1148A>G, NR_147228.1:n.1313A>G, NR_147231.2:n.1148A>G, NR_147231.1:n.1313A>G, NR_147219.2:n.1015A>G, NR_147219.1:n.1180A>G, NR_147226.2:n.1115A>G, NR_147226.1:n.1280A>G, NR_147224.2:n.1115A>G, NR_147224.1:n.1280A>G, NR_147220.2:n.1110A>G, NR_147220.1:n.1275A>G, NM_001351515.2:c.514A>G, NM_001351515.1:c.514A>G, NR_147229.2:n.982A>G, NR_147229.1:n.1147A>G, NM_001351525.2:c.397A>G, NM_001351525.1:c.397A>G, NR_147232.2:n.1018A>G, NR_147232.1:n.1183A>G, NM_001351508.2:c.817A>G, NM_001351508.1:c.817A>G, NM_001351524.2:c.397A>G, NM_001351524.1:c.397A>G, NM_001351509.2:c.790A>G, NM_001351509.1:c.790A>G, NM_001351510.2:c.784A>G, NM_001351510.1:c.784A>G, NM_001351514.2:c.589A>G, NM_001351514.1:c.589A>G, NR_147216.1:n.1174A>G, NR_147217.1:n.1055A>G, NR_147218.1:n.1055A>G, NM_001351511.1:c.706A>G, NM_001351512.1:c.679A>G, NM_001351513.1:c.673A>G, XM_005264528.6:c.622A>G, XM_005264528.5:c.622A>G, XM_005264528.4:c.622A>G, XM_005264528.3:c.622A>G, XM_005264528.2:c.622A>G, XM_005264528.1:c.622A>G, XM_047445627.1:c.517A>G, XM_047445625.1:c.517A>G, XM_047445631.1:c.397A>G, XM_047445632.1:c.397A>G, XM_047445626.1:c.517A>G, XM_047445628.1:c.514A>G, XM_047445630.1:c.514A>G, XM_047445629.1:c.514A>G, NP_071505.2:p.Thr273Ala, NP_071320.2:p.Thr262Ala, NP_001338446.1:p.Thr133Ala, NP_001338444.1:p.Thr172Ala, NP_001338454.1:p.Thr133Ala, NP_001338437.1:p.Thr273Ala, NP_001338453.1:p.Thr133Ala, NP_001338438.1:p.Thr264Ala, NP_001338439.1:p.Thr262Ala, NP_001338443.1:p.Thr197Ala, NP_001338440.1:p.Thr236Ala, NP_001338441.1:p.Thr227Ala, NP_001338442.1:p.Thr225Ala, XP_005264585.1:p.Thr208Ala, XP_047301583.1:p.Thr173Ala, XP_047301581.1:p.Thr173Ala, XP_047301587.1:p.Thr133Ala, XP_047301588.1:p.Thr133Ala, XP_047301582.1:p.Thr173Ala, XP_047301584.1:p.Thr172Ala, XP_047301586.1:p.Thr172Ala, XP_047301585.1:p.Thr172Ala

                              15.

                              rs1450599332 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:70216435 (GRCh38)
                                2:70443567 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:70216434:T:C
                                Gene:
                                TIA1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000008/2 (GnomAD_exomes)
                                C=0.000071/1 (TOMMO)
                                HGVS:
                                NC_000002.12:g.70216435T>C, NC_000002.11:g.70443567T>C, NG_029967.1:g.37213A>G, NM_022173.4:c.648A>G, NM_022173.3:c.648A>G, NM_022173.2:c.648A>G, NM_022037.4:c.615A>G, NM_022037.3:c.615A>G, NM_022037.2:c.615A>G, NR_147230.2:n.1164A>G, NR_147230.1:n.1329A>G, NR_147225.2:n.1098A>G, NR_147225.1:n.1263A>G, NR_147223.2:n.1065A>G, NR_147223.1:n.1230A>G, NM_001351517.2:c.228A>G, NM_001351517.1:c.228A>G, NR_147227.2:n.907A>G, NR_147227.1:n.1072A>G, NR_147221.2:n.1012A>G, NR_147221.1:n.1177A>G, NR_147222.2:n.1007A>G, NR_147222.1:n.1172A>G, NR_147228.2:n.979A>G, NR_147228.1:n.1144A>G, NR_147231.2:n.979A>G, NR_147231.1:n.1144A>G, NR_147219.2:n.846A>G, NR_147219.1:n.1011A>G, NR_147226.2:n.946A>G, NR_147226.1:n.1111A>G, NR_147224.2:n.946A>G, NR_147224.1:n.1111A>G, NR_147220.2:n.941A>G, NR_147220.1:n.1106A>G, NM_001351515.2:c.345A>G, NM_001351515.1:c.345A>G, NR_147229.2:n.813A>G, NR_147229.1:n.978A>G, NM_001351525.2:c.228A>G, NM_001351525.1:c.228A>G, NR_147232.2:n.849A>G, NR_147232.1:n.1014A>G, NM_001351508.2:c.648A>G, NM_001351508.1:c.648A>G, NM_001351524.2:c.228A>G, NM_001351524.1:c.228A>G, NM_001351509.2:c.621A>G, NM_001351509.1:c.621A>G, NM_001351510.2:c.615A>G, NM_001351510.1:c.615A>G, NM_001351514.2:c.420A>G, NM_001351514.1:c.420A>G, NM_001351516.2:c.648A>G, NM_001351516.1:c.648A>G, NR_147216.1:n.1005A>G, NR_147217.1:n.886A>G, NR_147218.1:n.886A>G, NM_001351511.1:c.537A>G, NM_001351512.1:c.510A>G, NM_001351513.1:c.504A>G, XM_005264528.6:c.453A>G, XM_005264528.5:c.453A>G, XM_005264528.4:c.453A>G, XM_005264528.3:c.453A>G, XM_005264528.2:c.453A>G, XM_005264528.1:c.453A>G, XM_047445627.1:c.348A>G, XM_047445625.1:c.348A>G, XM_047445631.1:c.228A>G, XM_047445632.1:c.228A>G, XM_047445626.1:c.348A>G, XM_047445628.1:c.345A>G, XM_047445630.1:c.345A>G, XM_047445629.1:c.345A>G

                                16.

                                rs1446182567 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:70227791 (GRCh38)
                                  2:70454923 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:70227790:G:A
                                  Gene:
                                  TIA1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000342/1 (KOREAN)
                                  HGVS:
                                  NC_000002.12:g.70227791G>A, NC_000002.11:g.70454923G>A, NG_029967.1:g.25857C>T, NM_022173.4:c.342C>T, NM_022173.3:c.342C>T, NM_022173.2:c.342C>T, NM_022037.4:c.309C>T, NM_022037.3:c.309C>T, NM_022037.2:c.309C>T, NR_147230.2:n.659C>T, NR_147230.1:n.824C>T, NR_147225.2:n.659C>T, NR_147225.1:n.824C>T, NR_147223.2:n.626C>T, NR_147223.1:n.791C>T, NM_001351517.2:c.-183C>T, NM_001351517.1:c.-183C>T, NR_147227.2:n.535C>T, NR_147227.1:n.700C>T, NR_147221.2:n.507C>T, NR_147221.1:n.672C>T, NR_147222.2:n.502C>T, NR_147222.1:n.667C>T, NR_147228.2:n.540C>T, NR_147228.1:n.705C>T, NR_147231.2:n.540C>T, NR_147231.1:n.705C>T, NR_147219.2:n.540C>T, NR_147219.1:n.705C>T, NR_147226.2:n.507C>T, NR_147226.1:n.672C>T, NR_147224.2:n.507C>T, NR_147224.1:n.672C>T, NR_147220.2:n.502C>T, NR_147220.1:n.667C>T, NM_001351515.2:c.39C>T, NM_001351515.1:c.39C>T, NR_147229.2:n.507C>T, NR_147229.1:n.672C>T, NM_001351525.2:c.-145C>T, NM_001351525.1:c.-145C>T, NR_147232.2:n.410C>T, NR_147232.1:n.575C>T, NM_001351508.2:c.342C>T, NM_001351508.1:c.342C>T, NM_001351524.2:c.-79C>T, NM_001351524.1:c.-79C>T, NM_001351509.2:c.315C>T, NM_001351509.1:c.315C>T, NM_001351510.2:c.309C>T, NM_001351510.1:c.309C>T, NM_001351514.2:c.114C>T, NM_001351514.1:c.114C>T, NM_001351516.2:c.342C>T, NM_001351516.1:c.342C>T, NM_001351518.2:c.342C>T, NM_001351518.1:c.342C>T, NM_001351520.2:c.467C>T, NM_001351520.1:c.467C>T, NM_001351522.2:c.342C>T, NM_001351522.1:c.342C>T, NM_001351519.2:c.342C>T, NM_001351519.1:c.342C>T, NM_001351521.2:c.309C>T, NM_001351521.1:c.309C>T, NM_001351523.2:c.114C>T, NM_001351523.1:c.114C>T, NR_147216.1:n.566C>T, NR_147217.1:n.447C>T, NR_147218.1:n.447C>T, NM_001351511.1:c.231C>T, NM_001351512.1:c.204C>T, NM_001351513.1:c.198C>T, XM_005264528.6:c.147C>T, XM_005264528.5:c.147C>T, XM_005264528.4:c.147C>T, XM_005264528.3:c.147C>T, XM_005264528.2:c.147C>T, XM_005264528.1:c.147C>T, XM_047445627.1:c.-3064C>T, XM_047445625.1:c.-3064C>T, XM_047445631.1:c.-2486C>T, XM_047445632.1:c.-2349C>T, XM_047445626.1:c.-898C>T, XM_047445628.1:c.39C>T, XM_047445630.1:c.39C>T, XM_047445629.1:c.39C>T, XM_047445633.1:c.461C>T, XM_047445634.1:c.461C>T, NP_001338449.1:p.Ala156Val, XP_047301589.1:p.Ala154Val, XP_047301590.1:p.Ala154Val

                                  17.

                                  rs1443782433 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,G [Show Flanks]
                                    Chromosome:
                                    2:70216494 (GRCh38)
                                    2:70443626 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:70216493:T:A,NC_000002.12:70216493:T:G
                                    Gene:
                                    TIA1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.70216494T>A, NC_000002.12:g.70216494T>G, NC_000002.11:g.70443626T>A, NC_000002.11:g.70443626T>G, NG_029967.1:g.37154A>T, NG_029967.1:g.37154A>C, NM_022173.4:c.589A>T, NM_022173.4:c.589A>C, NM_022173.3:c.589A>T, NM_022173.3:c.589A>C, NM_022173.2:c.589A>T, NM_022173.2:c.589A>C, NM_022037.4:c.556A>T, NM_022037.4:c.556A>C, NM_022037.3:c.556A>T, NM_022037.3:c.556A>C, NM_022037.2:c.556A>T, NM_022037.2:c.556A>C, NR_147230.2:n.1105A>T, NR_147230.2:n.1105A>C, NR_147230.1:n.1270A>T, NR_147230.1:n.1270A>C, NR_147225.2:n.1039A>T, NR_147225.2:n.1039A>C, NR_147225.1:n.1204A>T, NR_147225.1:n.1204A>C, NR_147223.2:n.1006A>T, NR_147223.2:n.1006A>C, NR_147223.1:n.1171A>T, NR_147223.1:n.1171A>C, NM_001351517.2:c.169A>T, NM_001351517.2:c.169A>C, NM_001351517.1:c.169A>T, NM_001351517.1:c.169A>C, NR_147227.2:n.848A>T, NR_147227.2:n.848A>C, NR_147227.1:n.1013A>T, NR_147227.1:n.1013A>C, NR_147221.2:n.953A>T, NR_147221.2:n.953A>C, NR_147221.1:n.1118A>T, NR_147221.1:n.1118A>C, NR_147222.2:n.948A>T, NR_147222.2:n.948A>C, NR_147222.1:n.1113A>T, NR_147222.1:n.1113A>C, NR_147228.2:n.920A>T, NR_147228.2:n.920A>C, NR_147228.1:n.1085A>T, NR_147228.1:n.1085A>C, NR_147231.2:n.920A>T, NR_147231.2:n.920A>C, NR_147231.1:n.1085A>T, NR_147231.1:n.1085A>C, NR_147219.2:n.787A>T, NR_147219.2:n.787A>C, NR_147219.1:n.952A>T, NR_147219.1:n.952A>C, NR_147226.2:n.887A>T, NR_147226.2:n.887A>C, NR_147226.1:n.1052A>T, NR_147226.1:n.1052A>C, NR_147224.2:n.887A>T, NR_147224.2:n.887A>C, NR_147224.1:n.1052A>T, NR_147224.1:n.1052A>C, NR_147220.2:n.882A>T, NR_147220.2:n.882A>C, NR_147220.1:n.1047A>T, NR_147220.1:n.1047A>C, NM_001351515.2:c.286A>T, NM_001351515.2:c.286A>C, NM_001351515.1:c.286A>T, NM_001351515.1:c.286A>C, NR_147229.2:n.754A>T, NR_147229.2:n.754A>C, NR_147229.1:n.919A>T, NR_147229.1:n.919A>C, NM_001351525.2:c.169A>T, NM_001351525.2:c.169A>C, NM_001351525.1:c.169A>T, NM_001351525.1:c.169A>C, NR_147232.2:n.790A>T, NR_147232.2:n.790A>C, NR_147232.1:n.955A>T, NR_147232.1:n.955A>C, NM_001351508.2:c.589A>T, NM_001351508.2:c.589A>C, NM_001351508.1:c.589A>T, NM_001351508.1:c.589A>C, NM_001351524.2:c.169A>T, NM_001351524.2:c.169A>C, NM_001351524.1:c.169A>T, NM_001351524.1:c.169A>C, NM_001351509.2:c.562A>T, NM_001351509.2:c.562A>C, NM_001351509.1:c.562A>T, NM_001351509.1:c.562A>C, NM_001351510.2:c.556A>T, NM_001351510.2:c.556A>C, NM_001351510.1:c.556A>T, NM_001351510.1:c.556A>C, NM_001351514.2:c.361A>T, NM_001351514.2:c.361A>C, NM_001351514.1:c.361A>T, NM_001351514.1:c.361A>C, NM_001351516.2:c.589A>T, NM_001351516.2:c.589A>C, NM_001351516.1:c.589A>T, NM_001351516.1:c.589A>C, NR_147216.1:n.946A>T, NR_147216.1:n.946A>C, NR_147217.1:n.827A>T, NR_147217.1:n.827A>C, NR_147218.1:n.827A>T, NR_147218.1:n.827A>C, NM_001351511.1:c.478A>T, NM_001351511.1:c.478A>C, NM_001351512.1:c.451A>T, NM_001351512.1:c.451A>C, NM_001351513.1:c.445A>T, NM_001351513.1:c.445A>C, XM_005264528.6:c.394A>T, XM_005264528.6:c.394A>C, XM_005264528.5:c.394A>T, XM_005264528.5:c.394A>C, XM_005264528.4:c.394A>T, XM_005264528.4:c.394A>C, XM_005264528.3:c.394A>T, XM_005264528.3:c.394A>C, XM_005264528.2:c.394A>T, XM_005264528.2:c.394A>C, XM_005264528.1:c.394A>T, XM_005264528.1:c.394A>C, XM_047445627.1:c.289A>T, XM_047445627.1:c.289A>C, XM_047445625.1:c.289A>T, XM_047445625.1:c.289A>C, XM_047445631.1:c.169A>T, XM_047445631.1:c.169A>C, XM_047445632.1:c.169A>T, XM_047445632.1:c.169A>C, XM_047445626.1:c.289A>T, XM_047445626.1:c.289A>C, XM_047445628.1:c.286A>T, XM_047445628.1:c.286A>C, XM_047445630.1:c.286A>T, XM_047445630.1:c.286A>C, XM_047445629.1:c.286A>T, XM_047445629.1:c.286A>C, NP_071505.2:p.Thr197Ser, NP_071505.2:p.Thr197Pro, NP_071320.2:p.Thr186Ser, NP_071320.2:p.Thr186Pro, NP_001338446.1:p.Thr57Ser, NP_001338446.1:p.Thr57Pro, NP_001338444.1:p.Thr96Ser, NP_001338444.1:p.Thr96Pro, NP_001338454.1:p.Thr57Ser, NP_001338454.1:p.Thr57Pro, NP_001338437.1:p.Thr197Ser, NP_001338437.1:p.Thr197Pro, NP_001338453.1:p.Thr57Ser, NP_001338453.1:p.Thr57Pro, NP_001338438.1:p.Thr188Ser, NP_001338438.1:p.Thr188Pro, NP_001338439.1:p.Thr186Ser, NP_001338439.1:p.Thr186Pro, NP_001338443.1:p.Thr121Ser, NP_001338443.1:p.Thr121Pro, NP_001338445.1:p.Thr197Ser, NP_001338445.1:p.Thr197Pro, NP_001338440.1:p.Thr160Ser, NP_001338440.1:p.Thr160Pro, NP_001338441.1:p.Thr151Ser, NP_001338441.1:p.Thr151Pro, NP_001338442.1:p.Thr149Ser, NP_001338442.1:p.Thr149Pro, XP_005264585.1:p.Thr132Ser, XP_005264585.1:p.Thr132Pro, XP_047301583.1:p.Thr97Ser, XP_047301583.1:p.Thr97Pro, XP_047301581.1:p.Thr97Ser, XP_047301581.1:p.Thr97Pro, XP_047301587.1:p.Thr57Ser, XP_047301587.1:p.Thr57Pro, XP_047301588.1:p.Thr57Ser, XP_047301588.1:p.Thr57Pro, XP_047301582.1:p.Thr97Ser, XP_047301582.1:p.Thr97Pro, XP_047301584.1:p.Thr96Ser, XP_047301584.1:p.Thr96Pro, XP_047301586.1:p.Thr96Ser, XP_047301586.1:p.Thr96Pro, XP_047301585.1:p.Thr96Ser, XP_047301585.1:p.Thr96Pro

                                    18.

                                    rs1441986525 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:70224593 (GRCh38)
                                      2:70451725 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:70224592:C:T
                                      Gene:
                                      TIA1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.70224593C>T, NC_000002.11:g.70451725C>T, NG_029967.1:g.29055G>A, NM_022173.4:c.435G>A, NM_022173.3:c.435G>A, NM_022173.2:c.435G>A, NM_022037.4:c.402G>A, NM_022037.3:c.402G>A, NM_022037.2:c.402G>A, NR_147230.2:n.818G>A, NR_147230.1:n.983G>A, NR_147225.2:n.752G>A, NR_147225.1:n.917G>A, NR_147223.2:n.719G>A, NR_147223.1:n.884G>A, NM_001351517.2:c.15G>A, NM_001351517.1:c.15G>A, NR_147227.2:n.694G>A, NR_147227.1:n.859G>A, NR_147221.2:n.666G>A, NR_147221.1:n.831G>A, NR_147222.2:n.661G>A, NR_147222.1:n.826G>A, NR_147228.2:n.633G>A, NR_147228.1:n.798G>A, NR_147231.2:n.633G>A, NR_147231.1:n.798G>A, NR_147219.2:n.633G>A, NR_147219.1:n.798G>A, NR_147226.2:n.600G>A, NR_147226.1:n.765G>A, NR_147224.2:n.600G>A, NR_147224.1:n.765G>A, NR_147220.2:n.595G>A, NR_147220.1:n.760G>A, NM_001351515.2:c.132G>A, NM_001351515.1:c.132G>A, NR_147229.2:n.600G>A, NR_147229.1:n.765G>A, NM_001351525.2:c.15G>A, NM_001351525.1:c.15G>A, NR_147232.2:n.503G>A, NR_147232.1:n.668G>A, NM_001351508.2:c.435G>A, NM_001351508.1:c.435G>A, NM_001351524.2:c.15G>A, NM_001351524.1:c.15G>A, NM_001351509.2:c.408G>A, NM_001351509.1:c.408G>A, NM_001351510.2:c.402G>A, NM_001351510.1:c.402G>A, NM_001351514.2:c.207G>A, NM_001351514.1:c.207G>A, NM_001351516.2:c.435G>A, NM_001351516.1:c.435G>A, NM_001351518.2:c.435G>A, NM_001351518.1:c.435G>A, NM_001351520.2:c.*68G>A, NM_001351520.1:c.*68G>A, NM_001351522.2:c.*66G>A, NM_001351522.1:c.*66G>A, NM_001351519.2:c.435G>A, NM_001351519.1:c.435G>A, NM_001351521.2:c.402G>A, NM_001351521.1:c.402G>A, NM_001351523.2:c.207G>A, NM_001351523.1:c.207G>A, NR_147216.1:n.659G>A, NR_147217.1:n.540G>A, NR_147218.1:n.540G>A, NM_001351511.1:c.324G>A, NM_001351512.1:c.297G>A, NM_001351513.1:c.291G>A, XM_005264528.6:c.240G>A, XM_005264528.5:c.240G>A, XM_005264528.4:c.240G>A, XM_005264528.3:c.240G>A, XM_005264528.2:c.240G>A, XM_005264528.1:c.240G>A, XM_047445627.1:c.135G>A, XM_047445625.1:c.135G>A, XM_047445631.1:c.15G>A, XM_047445632.1:c.15G>A, XM_047445626.1:c.135G>A, XM_047445628.1:c.132G>A, XM_047445630.1:c.132G>A, XM_047445629.1:c.132G>A, XM_047445633.1:c.*3173G>A, XM_047445634.1:c.*1007G>A

                                      19.

                                      rs1440553110 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        2:70229288 (GRCh38)
                                        2:70456420 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:70229287:T:A
                                        Gene:
                                        TIA1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.70229288T>A, NC_000002.11:g.70456420T>A, NG_029967.1:g.24360A>T, NM_022173.4:c.253A>T, NM_022173.3:c.253A>T, NM_022173.2:c.253A>T, NM_022037.4:c.253A>T, NM_022037.3:c.253A>T, NM_022037.2:c.253A>T, NR_147230.2:n.451A>T, NR_147230.1:n.616A>T, NR_147225.2:n.451A>T, NR_147225.1:n.616A>T, NR_147223.2:n.451A>T, NR_147223.1:n.616A>T, NM_001351517.2:c.-391A>T, NM_001351517.1:c.-391A>T, NR_147227.2:n.446A>T, NR_147227.1:n.611A>T, NR_147221.2:n.451A>T, NR_147221.1:n.616A>T, NR_147222.2:n.446A>T, NR_147222.1:n.611A>T, NR_147228.2:n.451A>T, NR_147228.1:n.616A>T, NR_147231.2:n.451A>T, NR_147231.1:n.616A>T, NR_147219.2:n.451A>T, NR_147219.1:n.616A>T, NR_147226.2:n.451A>T, NR_147226.1:n.616A>T, NR_147224.2:n.451A>T, NR_147224.1:n.616A>T, NR_147220.2:n.446A>T, NR_147220.1:n.611A>T, NM_001351515.2:c.-137A>T, NM_001351515.1:c.-137A>T, NR_147229.2:n.451A>T, NR_147229.1:n.616A>T, NM_001351525.2:c.-201A>T, NM_001351525.1:c.-201A>T, NR_147232.2:n.354A>T, NR_147232.1:n.519A>T, NM_001351508.2:c.253A>T, NM_001351508.1:c.253A>T, NM_001351524.2:c.-168A>T, NM_001351524.1:c.-168A>T, NM_001351509.2:c.259A>T, NM_001351509.1:c.259A>T, NM_001351510.2:c.253A>T, NM_001351510.1:c.253A>T, NM_001351514.2:c.58A>T, NM_001351514.1:c.58A>T, NM_001351516.2:c.253A>T, NM_001351516.1:c.253A>T, NM_001351518.2:c.253A>T, NM_001351518.1:c.253A>T, NM_001351520.2:c.259A>T, NM_001351520.1:c.259A>T, NM_001351522.2:c.253A>T, NM_001351522.1:c.253A>T, NM_001351519.2:c.253A>T, NM_001351519.1:c.253A>T, NM_001351521.2:c.253A>T, NM_001351521.1:c.253A>T, NM_001351523.2:c.58A>T, NM_001351523.1:c.58A>T, NR_147216.1:n.358A>T, NR_147217.1:n.358A>T, NR_147218.1:n.358A>T, NM_001351511.1:c.142A>T, NM_001351512.1:c.148A>T, NM_001351513.1:c.142A>T, XM_005264528.6:c.58A>T, XM_005264528.5:c.58A>T, XM_005264528.4:c.58A>T, XM_005264528.3:c.58A>T, XM_005264528.2:c.58A>T, XM_005264528.1:c.58A>T, XM_047445627.1:c.-4389A>T, XM_047445625.1:c.-3793A>T, XM_047445631.1:c.-3811A>T, XM_047445632.1:c.-3674A>T, XM_047445626.1:c.-2223A>T, XM_047445628.1:c.-766A>T, XM_047445630.1:c.-766A>T, XM_047445633.1:c.253A>T, XM_047445634.1:c.253A>T, NP_071505.2:p.Ser85Cys, NP_071320.2:p.Ser85Cys, NP_001338437.1:p.Ser85Cys, NP_001338438.1:p.Ser87Cys, NP_001338439.1:p.Ser85Cys, NP_001338443.1:p.Ser20Cys, NP_001338445.1:p.Ser85Cys, NP_001338447.1:p.Ser85Cys, NP_001338449.1:p.Ser87Cys, NP_001338451.1:p.Ser85Cys, NP_001338448.1:p.Ser85Cys, NP_001338450.1:p.Ser85Cys, NP_001338452.1:p.Ser20Cys, NP_001338440.1:p.Ser48Cys, NP_001338441.1:p.Ser50Cys, NP_001338442.1:p.Ser48Cys, XP_005264585.1:p.Ser20Cys, XP_047301589.1:p.Ser85Cys, XP_047301590.1:p.Ser85Cys

                                        20.

                                        rs1439252271 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->G [Show Flanks]
                                          Chromosome:
                                          2:70212794 (GRCh38)
                                          2:70439927 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:70212794:GG:GGG
                                          Gene:
                                          TIA1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GGG=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.70212796dup, NC_000002.11:g.70439928dup, NG_029967.1:g.40853dup, NM_022173.4:c.1085dup, NM_022173.3:c.1085dup, NM_022173.2:c.1085dup, NM_022037.4:c.1052dup, NM_022037.3:c.1052dup, NM_022037.2:c.1052dup, NR_147230.2:n.1601dup, NR_147230.1:n.1766dup, NR_147225.2:n.1535dup, NR_147225.1:n.1700dup, NR_147223.2:n.1502dup, NR_147223.1:n.1667dup, NM_001351517.2:c.662dup, NM_001351517.1:c.662dup, NR_147227.2:n.1453dup, NR_147227.1:n.1618dup, NR_147221.2:n.1449dup, NR_147221.1:n.1614dup, NR_147222.2:n.1444dup, NR_147222.1:n.1609dup, NR_147228.2:n.1416dup, NR_147228.1:n.1581dup, NR_147231.2:n.1413dup, NR_147231.1:n.1578dup, NR_147219.2:n.1392dup, NR_147219.1:n.1557dup, NR_147226.2:n.1383dup, NR_147226.1:n.1548dup, NR_147224.2:n.1380dup, NR_147224.1:n.1545dup, NR_147220.2:n.1378dup, NR_147220.1:n.1543dup, NM_001351515.2:c.782dup, NM_001351515.1:c.782dup, NR_147229.2:n.1359dup, NR_147229.1:n.1524dup, NM_001351525.2:c.665dup, NM_001351525.1:c.665dup, NR_147232.2:n.1286dup, NR_147232.1:n.1451dup, NM_001351508.2:c.1082dup, NM_001351508.1:c.1082dup, NM_001351524.2:c.665dup, NM_001351524.1:c.665dup, NM_001351509.2:c.1058dup, NM_001351509.1:c.1058dup, NM_001351510.2:c.1049dup, NM_001351510.1:c.1049dup, NM_001351514.2:c.857dup, NM_001351514.1:c.857dup, NR_147216.1:n.1442dup, NR_147217.1:n.1323dup, NR_147218.1:n.1320dup, NM_001351511.1:c.974dup, NM_001351512.1:c.947dup, NM_001351513.1:c.941dup, XM_005264528.6:c.890dup, XM_005264528.5:c.890dup, XM_005264528.4:c.890dup, XM_005264528.3:c.890dup, XM_005264528.2:c.890dup, XM_005264528.1:c.890dup, XM_047445627.1:c.782dup, XM_047445625.1:c.785dup, XM_047445631.1:c.665dup, XM_047445632.1:c.665dup, XM_047445626.1:c.785dup, XM_047445628.1:c.782dup, XM_047445630.1:c.779dup, XM_047445629.1:c.782dup, NP_071505.2:p.Pro363fs, NP_071320.2:p.Pro352fs, NP_001338446.1:p.Pro222fs, NP_001338444.1:p.Pro262fs, NP_001338454.1:p.Pro223fs, NP_001338437.1:p.Pro362fs, NP_001338453.1:p.Pro223fs, NP_001338438.1:p.Pro354fs, NP_001338439.1:p.Pro351fs, NP_001338443.1:p.Pro287fs, NP_001338440.1:p.Pro326fs, NP_001338441.1:p.Pro317fs, NP_001338442.1:p.Pro315fs, XP_005264585.1:p.Pro298fs, XP_047301583.1:p.Pro262fs, XP_047301581.1:p.Pro263fs, XP_047301587.1:p.Pro223fs, XP_047301588.1:p.Pro223fs, XP_047301582.1:p.Pro263fs, XP_047301584.1:p.Pro262fs, XP_047301586.1:p.Pro261fs, XP_047301585.1:p.Pro262fs

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