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1.

rs1491144035 has merged into rs80309223 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    A>-,AA,AAA [Show Flanks]
    Chromosome:
    2:70210110 (GRCh38)
    2:70437242 (GRCh37)
    Canonical SPDI:
    NC_000002.12:70210109:AAAAAAAAAA:AAAAAAAAA,NC_000002.12:70210109:AAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:70210109:AAAAAAAAAA:AAAAAAAAAAAA
    Gene:
    TIA1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0.012159/173 (ALFA)
    -=0.061952/16398 (TOPMED)
    -=0.063043/261 (Estonian)
    -=0.080272/402 (1000Genomes)
    HGVS:
    NC_000002.12:g.70210119del, NC_000002.12:g.70210119dup, NC_000002.12:g.70210118_70210119dup, NC_000002.11:g.70437251del, NC_000002.11:g.70437251dup, NC_000002.11:g.70437250_70437251dup, NG_029967.1:g.43538del, NG_029967.1:g.43538dup, NG_029967.1:g.43537_43538dup, NM_022173.4:c.*2609del, NM_022173.4:c.*2609dup, NM_022173.4:c.*2608_*2609dup, NM_022173.3:c.*2609del, NM_022173.3:c.*2609dup, NM_022173.3:c.*2608_*2609dup, NM_022173.2:c.*2609del, NM_022173.2:c.*2609dup, NM_022173.2:c.*2608_*2609dup, NM_022037.4:c.*2609del, NM_022037.4:c.*2609dup, NM_022037.4:c.*2608_*2609dup, NM_022037.3:c.*2609del, NM_022037.3:c.*2609dup, NM_022037.3:c.*2608_*2609dup, NM_022037.2:c.*2609del, NM_022037.2:c.*2609dup, NM_022037.2:c.*2608_*2609dup, NR_147230.2:n.4286del, NR_147230.2:n.4286dup, NR_147230.2:n.4285_4286dup, NR_147230.1:n.4451del, NR_147230.1:n.4451dup, NR_147230.1:n.4450_4451dup, NR_147225.2:n.4220del, NR_147225.2:n.4220dup, NR_147225.2:n.4219_4220dup, NR_147225.1:n.4385del, NR_147225.1:n.4385dup, NR_147225.1:n.4384_4385dup, NR_147223.2:n.4187del, NR_147223.2:n.4187dup, NR_147223.2:n.4186_4187dup, NR_147223.1:n.4352del, NR_147223.1:n.4352dup, NR_147223.1:n.4351_4352dup, NM_001351517.2:c.*2609del, NM_001351517.2:c.*2609dup, NM_001351517.2:c.*2608_*2609dup, NM_001351517.1:c.*2609del, NM_001351517.1:c.*2609dup, NM_001351517.1:c.*2608_*2609dup, NR_147227.2:n.4138del, NR_147227.2:n.4138dup, NR_147227.2:n.4137_4138dup, NR_147227.1:n.4303del, NR_147227.1:n.4303dup, NR_147227.1:n.4302_4303dup, NR_147221.2:n.4134del, NR_147221.2:n.4134dup, NR_147221.2:n.4133_4134dup, NR_147221.1:n.4299del, NR_147221.1:n.4299dup, NR_147221.1:n.4298_4299dup, NR_147222.2:n.4129del, NR_147222.2:n.4129dup, NR_147222.2:n.4128_4129dup, NR_147222.1:n.4294del, NR_147222.1:n.4294dup, NR_147222.1:n.4293_4294dup, NR_147228.2:n.4101del, NR_147228.2:n.4101dup, NR_147228.2:n.4100_4101dup, NR_147228.1:n.4266del, NR_147228.1:n.4266dup, NR_147228.1:n.4265_4266dup, NR_147231.2:n.4098del, NR_147231.2:n.4098dup, NR_147231.2:n.4097_4098dup, NR_147231.1:n.4263del, NR_147231.1:n.4263dup, NR_147231.1:n.4262_4263dup, NR_147219.2:n.4077del, NR_147219.2:n.4077dup, NR_147219.2:n.4076_4077dup, NR_147219.1:n.4242del, NR_147219.1:n.4242dup, NR_147219.1:n.4241_4242dup, NR_147226.2:n.4068del, NR_147226.2:n.4068dup, NR_147226.2:n.4067_4068dup, NR_147226.1:n.4233del, NR_147226.1:n.4233dup, NR_147226.1:n.4232_4233dup, NR_147224.2:n.4065del, NR_147224.2:n.4065dup, NR_147224.2:n.4064_4065dup, NR_147224.1:n.4230del, NR_147224.1:n.4230dup, NR_147224.1:n.4229_4230dup, NR_147220.2:n.4063del, NR_147220.2:n.4063dup, NR_147220.2:n.4062_4063dup, NR_147220.1:n.4228del, NR_147220.1:n.4228dup, NR_147220.1:n.4227_4228dup, NM_001351515.2:c.*2609del, NM_001351515.2:c.*2609dup, NM_001351515.2:c.*2608_*2609dup, NM_001351515.1:c.*2609del, NM_001351515.1:c.*2609dup, NM_001351515.1:c.*2608_*2609dup, NR_147229.2:n.4044del, NR_147229.2:n.4044dup, NR_147229.2:n.4043_4044dup, NR_147229.1:n.4209del, NR_147229.1:n.4209dup, NR_147229.1:n.4208_4209dup, NM_001351525.2:c.*2609del, NM_001351525.2:c.*2609dup, NM_001351525.2:c.*2608_*2609dup, NM_001351525.1:c.*2609del, NM_001351525.1:c.*2609dup, NM_001351525.1:c.*2608_*2609dup, NR_147232.2:n.3971del, NR_147232.2:n.3971dup, NR_147232.2:n.3970_3971dup, NR_147232.1:n.4136del, NR_147232.1:n.4136dup, NR_147232.1:n.4135_4136dup, NM_001351508.2:c.*2609del, NM_001351508.2:c.*2609dup, NM_001351508.2:c.*2608_*2609dup, NM_001351508.1:c.*2609del, NM_001351508.1:c.*2609dup, NM_001351508.1:c.*2608_*2609dup, NM_001351524.2:c.*2609del, NM_001351524.2:c.*2609dup, NM_001351524.2:c.*2608_*2609dup, NM_001351524.1:c.*2609del, NM_001351524.1:c.*2609dup, NM_001351524.1:c.*2608_*2609dup, NM_001351509.2:c.*2609del, NM_001351509.2:c.*2609dup, NM_001351509.2:c.*2608_*2609dup, NM_001351509.1:c.*2609del, NM_001351509.1:c.*2609dup, NM_001351509.1:c.*2608_*2609dup, NM_001351510.2:c.*2609del, NM_001351510.2:c.*2609dup, NM_001351510.2:c.*2608_*2609dup, NM_001351510.1:c.*2609del, NM_001351510.1:c.*2609dup, NM_001351510.1:c.*2608_*2609dup, NM_001351514.2:c.*2609del, NM_001351514.2:c.*2609dup, NM_001351514.2:c.*2608_*2609dup, NM_001351514.1:c.*2609del, NM_001351514.1:c.*2609dup, NM_001351514.1:c.*2608_*2609dup, NR_147216.1:n.4127del, NR_147216.1:n.4127dup, NR_147216.1:n.4126_4127dup, NR_147217.1:n.4008del, NR_147217.1:n.4008dup, NR_147217.1:n.4007_4008dup, NR_147218.1:n.4005del, NR_147218.1:n.4005dup, NR_147218.1:n.4004_4005dup, NM_001351511.1:c.*2609del, NM_001351511.1:c.*2609dup, NM_001351511.1:c.*2608_*2609dup, NM_001351512.1:c.*2609del, NM_001351512.1:c.*2609dup, NM_001351512.1:c.*2608_*2609dup, NM_001351513.1:c.*2609del, NM_001351513.1:c.*2609dup, NM_001351513.1:c.*2608_*2609dup, XM_005264528.6:c.*2609del, XM_005264528.6:c.*2609dup, XM_005264528.6:c.*2608_*2609dup, XM_005264528.5:c.*2609del, XM_005264528.5:c.*2609dup, XM_005264528.5:c.*2608_*2609dup, XM_005264528.4:c.*2609del, XM_005264528.4:c.*2609dup, XM_005264528.4:c.*2608_*2609dup, XM_005264528.3:c.*2609del, XM_005264528.3:c.*2609dup, XM_005264528.3:c.*2608_*2609dup, XM_005264528.2:c.*2609del, XM_005264528.2:c.*2609dup, XM_005264528.2:c.*2608_*2609dup, XM_005264528.1:c.*2609del, XM_005264528.1:c.*2609dup, XM_005264528.1:c.*2608_*2609dup, XM_047445627.1:c.*2609del, XM_047445627.1:c.*2609dup, XM_047445627.1:c.*2608_*2609dup, XM_047445625.1:c.*2609del, XM_047445625.1:c.*2609dup, XM_047445625.1:c.*2608_*2609dup, XM_047445631.1:c.*2609del, XM_047445631.1:c.*2609dup, XM_047445631.1:c.*2608_*2609dup, XM_047445632.1:c.*2609del, XM_047445632.1:c.*2609dup, XM_047445632.1:c.*2608_*2609dup, XM_047445626.1:c.*2609del, XM_047445626.1:c.*2609dup, XM_047445626.1:c.*2608_*2609dup, XM_047445628.1:c.*2609del, XM_047445628.1:c.*2609dup, XM_047445628.1:c.*2608_*2609dup, XM_047445630.1:c.*2609del, XM_047445630.1:c.*2609dup, XM_047445630.1:c.*2608_*2609dup, XM_047445629.1:c.*2609del, XM_047445629.1:c.*2609dup, XM_047445629.1:c.*2608_*2609dup

    2.

    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

      3.

      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

        4.

        rs1489049890 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:70210689 (GRCh38)
          2:70437821 (GRCh37)
          Canonical SPDI:
          NC_000002.12:70210688:A:G
          Gene:
          TIA1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000023/6 (TOPMED)
          HGVS:
          NC_000002.12:g.70210689A>G, NC_000002.11:g.70437821A>G, NG_029967.1:g.42959T>C, NM_022173.4:c.*2030T>C, NM_022173.3:c.*2030T>C, NM_022173.2:c.*2030T>C, NM_022037.4:c.*2030T>C, NM_022037.3:c.*2030T>C, NM_022037.2:c.*2030T>C, NR_147230.2:n.3707T>C, NR_147230.1:n.3872T>C, NR_147225.2:n.3641T>C, NR_147225.1:n.3806T>C, NR_147223.2:n.3608T>C, NR_147223.1:n.3773T>C, NM_001351517.2:c.*2030T>C, NM_001351517.1:c.*2030T>C, NR_147227.2:n.3559T>C, NR_147227.1:n.3724T>C, NR_147221.2:n.3555T>C, NR_147221.1:n.3720T>C, NR_147222.2:n.3550T>C, NR_147222.1:n.3715T>C, NR_147228.2:n.3522T>C, NR_147228.1:n.3687T>C, NR_147231.2:n.3519T>C, NR_147231.1:n.3684T>C, NR_147219.2:n.3498T>C, NR_147219.1:n.3663T>C, NR_147226.2:n.3489T>C, NR_147226.1:n.3654T>C, NR_147224.2:n.3486T>C, NR_147224.1:n.3651T>C, NR_147220.2:n.3484T>C, NR_147220.1:n.3649T>C, NM_001351515.2:c.*2030T>C, NM_001351515.1:c.*2030T>C, NR_147229.2:n.3465T>C, NR_147229.1:n.3630T>C, NM_001351525.2:c.*2030T>C, NM_001351525.1:c.*2030T>C, NR_147232.2:n.3392T>C, NR_147232.1:n.3557T>C, NM_001351508.2:c.*2030T>C, NM_001351508.1:c.*2030T>C, NM_001351524.2:c.*2030T>C, NM_001351524.1:c.*2030T>C, NM_001351509.2:c.*2030T>C, NM_001351509.1:c.*2030T>C, NM_001351510.2:c.*2030T>C, NM_001351510.1:c.*2030T>C, NM_001351514.2:c.*2030T>C, NM_001351514.1:c.*2030T>C, NR_147216.1:n.3548T>C, NR_147217.1:n.3429T>C, NR_147218.1:n.3426T>C, NM_001351511.1:c.*2030T>C, NM_001351512.1:c.*2030T>C, NM_001351513.1:c.*2030T>C, XM_005264528.6:c.*2030T>C, XM_005264528.5:c.*2030T>C, XM_005264528.4:c.*2030T>C, XM_005264528.3:c.*2030T>C, XM_005264528.2:c.*2030T>C, XM_005264528.1:c.*2030T>C, XM_047445627.1:c.*2030T>C, XM_047445625.1:c.*2030T>C, XM_047445631.1:c.*2030T>C, XM_047445632.1:c.*2030T>C, XM_047445626.1:c.*2030T>C, XM_047445628.1:c.*2030T>C, XM_047445630.1:c.*2030T>C, XM_047445629.1:c.*2030T>C

          5.

          rs1488525405 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:70212215 (GRCh38)
            2:70439347 (GRCh37)
            Canonical SPDI:
            NC_000002.12:70212214:A:G
            Gene:
            TIA1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.70212215A>G, NC_000002.11:g.70439347A>G, NG_029967.1:g.41433T>C, NM_022173.4:c.*504T>C, NM_022173.3:c.*504T>C, NM_022173.2:c.*504T>C, NM_022037.4:c.*504T>C, NM_022037.3:c.*504T>C, NM_022037.2:c.*504T>C, NR_147230.2:n.2181T>C, NR_147230.1:n.2346T>C, NR_147225.2:n.2115T>C, NR_147225.1:n.2280T>C, NR_147223.2:n.2082T>C, NR_147223.1:n.2247T>C, NM_001351517.2:c.*504T>C, NM_001351517.1:c.*504T>C, NR_147227.2:n.2033T>C, NR_147227.1:n.2198T>C, NR_147221.2:n.2029T>C, NR_147221.1:n.2194T>C, NR_147222.2:n.2024T>C, NR_147222.1:n.2189T>C, NR_147228.2:n.1996T>C, NR_147228.1:n.2161T>C, NR_147231.2:n.1993T>C, NR_147231.1:n.2158T>C, NR_147219.2:n.1972T>C, NR_147219.1:n.2137T>C, NR_147226.2:n.1963T>C, NR_147226.1:n.2128T>C, NR_147224.2:n.1960T>C, NR_147224.1:n.2125T>C, NR_147220.2:n.1958T>C, NR_147220.1:n.2123T>C, NM_001351515.2:c.*504T>C, NM_001351515.1:c.*504T>C, NR_147229.2:n.1939T>C, NR_147229.1:n.2104T>C, NM_001351525.2:c.*504T>C, NM_001351525.1:c.*504T>C, NR_147232.2:n.1866T>C, NR_147232.1:n.2031T>C, NM_001351508.2:c.*504T>C, NM_001351508.1:c.*504T>C, NM_001351524.2:c.*504T>C, NM_001351524.1:c.*504T>C, NM_001351509.2:c.*504T>C, NM_001351509.1:c.*504T>C, NM_001351510.2:c.*504T>C, NM_001351510.1:c.*504T>C, NM_001351514.2:c.*504T>C, NM_001351514.1:c.*504T>C, NR_147216.1:n.2022T>C, NR_147217.1:n.1903T>C, NR_147218.1:n.1900T>C, NM_001351511.1:c.*504T>C, NM_001351512.1:c.*504T>C, NM_001351513.1:c.*504T>C, XM_005264528.6:c.*504T>C, XM_005264528.5:c.*504T>C, XM_005264528.4:c.*504T>C, XM_005264528.3:c.*504T>C, XM_005264528.2:c.*504T>C, XM_005264528.1:c.*504T>C, XM_047445627.1:c.*504T>C, XM_047445625.1:c.*504T>C, XM_047445631.1:c.*504T>C, XM_047445632.1:c.*504T>C, XM_047445626.1:c.*504T>C, XM_047445628.1:c.*504T>C, XM_047445630.1:c.*504T>C, XM_047445629.1:c.*504T>C

            6.

            rs1488498734 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:70210295 (GRCh38)
              2:70437427 (GRCh37)
              Canonical SPDI:
              NC_000002.12:70210294:C:T
              Gene:
              TIA1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000014/2 (GnomAD)
              C=0.5/1 (SGDP_PRJ)
              HGVS:
              NC_000002.12:g.70210295C>T, NC_000002.11:g.70437427C>T, NG_029967.1:g.43353G>A, NM_022173.4:c.*2424G>A, NM_022173.3:c.*2424G>A, NM_022173.2:c.*2424G>A, NM_022037.4:c.*2424G>A, NM_022037.3:c.*2424G>A, NM_022037.2:c.*2424G>A, NR_147230.2:n.4101G>A, NR_147230.1:n.4266G>A, NR_147225.2:n.4035G>A, NR_147225.1:n.4200G>A, NR_147223.2:n.4002G>A, NR_147223.1:n.4167G>A, NM_001351517.2:c.*2424G>A, NM_001351517.1:c.*2424G>A, NR_147227.2:n.3953G>A, NR_147227.1:n.4118G>A, NR_147221.2:n.3949G>A, NR_147221.1:n.4114G>A, NR_147222.2:n.3944G>A, NR_147222.1:n.4109G>A, NR_147228.2:n.3916G>A, NR_147228.1:n.4081G>A, NR_147231.2:n.3913G>A, NR_147231.1:n.4078G>A, NR_147219.2:n.3892G>A, NR_147219.1:n.4057G>A, NR_147226.2:n.3883G>A, NR_147226.1:n.4048G>A, NR_147224.2:n.3880G>A, NR_147224.1:n.4045G>A, NR_147220.2:n.3878G>A, NR_147220.1:n.4043G>A, NM_001351515.2:c.*2424G>A, NM_001351515.1:c.*2424G>A, NR_147229.2:n.3859G>A, NR_147229.1:n.4024G>A, NM_001351525.2:c.*2424G>A, NM_001351525.1:c.*2424G>A, NR_147232.2:n.3786G>A, NR_147232.1:n.3951G>A, NM_001351508.2:c.*2424G>A, NM_001351508.1:c.*2424G>A, NM_001351524.2:c.*2424G>A, NM_001351524.1:c.*2424G>A, NM_001351509.2:c.*2424G>A, NM_001351509.1:c.*2424G>A, NM_001351510.2:c.*2424G>A, NM_001351510.1:c.*2424G>A, NM_001351514.2:c.*2424G>A, NM_001351514.1:c.*2424G>A, NR_147216.1:n.3942G>A, NR_147217.1:n.3823G>A, NR_147218.1:n.3820G>A, NM_001351511.1:c.*2424G>A, NM_001351512.1:c.*2424G>A, NM_001351513.1:c.*2424G>A, XM_005264528.6:c.*2424G>A, XM_005264528.5:c.*2424G>A, XM_005264528.4:c.*2424G>A, XM_005264528.3:c.*2424G>A, XM_005264528.2:c.*2424G>A, XM_005264528.1:c.*2424G>A, XM_047445627.1:c.*2424G>A, XM_047445625.1:c.*2424G>A, XM_047445631.1:c.*2424G>A, XM_047445632.1:c.*2424G>A, XM_047445626.1:c.*2424G>A, XM_047445628.1:c.*2424G>A, XM_047445630.1:c.*2424G>A, XM_047445629.1:c.*2424G>A

              7.

              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

                8.

                rs1487321222 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:70211030 (GRCh38)
                  2:70438162 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:70211029:C:T
                  Gene:
                  TIA1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  T=0.000023/6 (TOPMED)
                  HGVS:
                  NC_000002.12:g.70211030C>T, NC_000002.11:g.70438162C>T, NG_029967.1:g.42618G>A, NM_022173.4:c.*1689G>A, NM_022173.3:c.*1689G>A, NM_022173.2:c.*1689G>A, NM_022037.4:c.*1689G>A, NM_022037.3:c.*1689G>A, NM_022037.2:c.*1689G>A, NR_147230.2:n.3366G>A, NR_147230.1:n.3531G>A, NR_147225.2:n.3300G>A, NR_147225.1:n.3465G>A, NR_147223.2:n.3267G>A, NR_147223.1:n.3432G>A, NM_001351517.2:c.*1689G>A, NM_001351517.1:c.*1689G>A, NR_147227.2:n.3218G>A, NR_147227.1:n.3383G>A, NR_147221.2:n.3214G>A, NR_147221.1:n.3379G>A, NR_147222.2:n.3209G>A, NR_147222.1:n.3374G>A, NR_147228.2:n.3181G>A, NR_147228.1:n.3346G>A, NR_147231.2:n.3178G>A, NR_147231.1:n.3343G>A, NR_147219.2:n.3157G>A, NR_147219.1:n.3322G>A, NR_147226.2:n.3148G>A, NR_147226.1:n.3313G>A, NR_147224.2:n.3145G>A, NR_147224.1:n.3310G>A, NR_147220.2:n.3143G>A, NR_147220.1:n.3308G>A, NM_001351515.2:c.*1689G>A, NM_001351515.1:c.*1689G>A, NR_147229.2:n.3124G>A, NR_147229.1:n.3289G>A, NM_001351525.2:c.*1689G>A, NM_001351525.1:c.*1689G>A, NR_147232.2:n.3051G>A, NR_147232.1:n.3216G>A, NM_001351508.2:c.*1689G>A, NM_001351508.1:c.*1689G>A, NM_001351524.2:c.*1689G>A, NM_001351524.1:c.*1689G>A, NM_001351509.2:c.*1689G>A, NM_001351509.1:c.*1689G>A, NM_001351510.2:c.*1689G>A, NM_001351510.1:c.*1689G>A, NM_001351514.2:c.*1689G>A, NM_001351514.1:c.*1689G>A, NR_147216.1:n.3207G>A, NR_147217.1:n.3088G>A, NR_147218.1:n.3085G>A, NM_001351511.1:c.*1689G>A, NM_001351512.1:c.*1689G>A, NM_001351513.1:c.*1689G>A, XM_005264528.6:c.*1689G>A, XM_005264528.5:c.*1689G>A, XM_005264528.4:c.*1689G>A, XM_005264528.3:c.*1689G>A, XM_005264528.2:c.*1689G>A, XM_005264528.1:c.*1689G>A, XM_047445627.1:c.*1689G>A, XM_047445625.1:c.*1689G>A, XM_047445631.1:c.*1689G>A, XM_047445632.1:c.*1689G>A, XM_047445626.1:c.*1689G>A, XM_047445628.1:c.*1689G>A, XM_047445630.1:c.*1689G>A, XM_047445629.1:c.*1689G>A

                  9.

                  rs1486956635 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    2:70210369 (GRCh38)
                    2:70437501 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:70210368:C:A,NC_000002.12:70210368:C:T
                    Gene:
                    TIA1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_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.70210369C>A, NC_000002.12:g.70210369C>T, NC_000002.11:g.70437501C>A, NC_000002.11:g.70437501C>T, NG_029967.1:g.43279G>T, NG_029967.1:g.43279G>A, NM_022173.4:c.*2350G>T, NM_022173.4:c.*2350G>A, NM_022173.3:c.*2350G>T, NM_022173.3:c.*2350G>A, NM_022173.2:c.*2350G>T, NM_022173.2:c.*2350G>A, NM_022037.4:c.*2350G>T, NM_022037.4:c.*2350G>A, NM_022037.3:c.*2350G>T, NM_022037.3:c.*2350G>A, NM_022037.2:c.*2350G>T, NM_022037.2:c.*2350G>A, NR_147230.2:n.4027G>T, NR_147230.2:n.4027G>A, NR_147230.1:n.4192G>T, NR_147230.1:n.4192G>A, NR_147225.2:n.3961G>T, NR_147225.2:n.3961G>A, NR_147225.1:n.4126G>T, NR_147225.1:n.4126G>A, NR_147223.2:n.3928G>T, NR_147223.2:n.3928G>A, NR_147223.1:n.4093G>T, NR_147223.1:n.4093G>A, NM_001351517.2:c.*2350G>T, NM_001351517.2:c.*2350G>A, NM_001351517.1:c.*2350G>T, NM_001351517.1:c.*2350G>A, NR_147227.2:n.3879G>T, NR_147227.2:n.3879G>A, NR_147227.1:n.4044G>T, NR_147227.1:n.4044G>A, NR_147221.2:n.3875G>T, NR_147221.2:n.3875G>A, NR_147221.1:n.4040G>T, NR_147221.1:n.4040G>A, NR_147222.2:n.3870G>T, NR_147222.2:n.3870G>A, NR_147222.1:n.4035G>T, NR_147222.1:n.4035G>A, NR_147228.2:n.3842G>T, NR_147228.2:n.3842G>A, NR_147228.1:n.4007G>T, NR_147228.1:n.4007G>A, NR_147231.2:n.3839G>T, NR_147231.2:n.3839G>A, NR_147231.1:n.4004G>T, NR_147231.1:n.4004G>A, NR_147219.2:n.3818G>T, NR_147219.2:n.3818G>A, NR_147219.1:n.3983G>T, NR_147219.1:n.3983G>A, NR_147226.2:n.3809G>T, NR_147226.2:n.3809G>A, NR_147226.1:n.3974G>T, NR_147226.1:n.3974G>A, NR_147224.2:n.3806G>T, NR_147224.2:n.3806G>A, NR_147224.1:n.3971G>T, NR_147224.1:n.3971G>A, NR_147220.2:n.3804G>T, NR_147220.2:n.3804G>A, NR_147220.1:n.3969G>T, NR_147220.1:n.3969G>A, NM_001351515.2:c.*2350G>T, NM_001351515.2:c.*2350G>A, NM_001351515.1:c.*2350G>T, NM_001351515.1:c.*2350G>A, NR_147229.2:n.3785G>T, NR_147229.2:n.3785G>A, NR_147229.1:n.3950G>T, NR_147229.1:n.3950G>A, NM_001351525.2:c.*2350G>T, NM_001351525.2:c.*2350G>A, NM_001351525.1:c.*2350G>T, NM_001351525.1:c.*2350G>A, NR_147232.2:n.3712G>T, NR_147232.2:n.3712G>A, NR_147232.1:n.3877G>T, NR_147232.1:n.3877G>A, NM_001351508.2:c.*2350G>T, NM_001351508.2:c.*2350G>A, NM_001351508.1:c.*2350G>T, NM_001351508.1:c.*2350G>A, NM_001351524.2:c.*2350G>T, NM_001351524.2:c.*2350G>A, NM_001351524.1:c.*2350G>T, NM_001351524.1:c.*2350G>A, NM_001351509.2:c.*2350G>T, NM_001351509.2:c.*2350G>A, NM_001351509.1:c.*2350G>T, NM_001351509.1:c.*2350G>A, NM_001351510.2:c.*2350G>T, NM_001351510.2:c.*2350G>A, NM_001351510.1:c.*2350G>T, NM_001351510.1:c.*2350G>A, NM_001351514.2:c.*2350G>T, NM_001351514.2:c.*2350G>A, NM_001351514.1:c.*2350G>T, NM_001351514.1:c.*2350G>A, NR_147216.1:n.3868G>T, NR_147216.1:n.3868G>A, NR_147217.1:n.3749G>T, NR_147217.1:n.3749G>A, NR_147218.1:n.3746G>T, NR_147218.1:n.3746G>A, NM_001351511.1:c.*2350G>T, NM_001351511.1:c.*2350G>A, NM_001351512.1:c.*2350G>T, NM_001351512.1:c.*2350G>A, NM_001351513.1:c.*2350G>T, NM_001351513.1:c.*2350G>A, XM_005264528.6:c.*2350G>T, XM_005264528.6:c.*2350G>A, XM_005264528.5:c.*2350G>T, XM_005264528.5:c.*2350G>A, XM_005264528.4:c.*2350G>T, XM_005264528.4:c.*2350G>A, XM_005264528.3:c.*2350G>T, XM_005264528.3:c.*2350G>A, XM_005264528.2:c.*2350G>T, XM_005264528.2:c.*2350G>A, XM_005264528.1:c.*2350G>T, XM_005264528.1:c.*2350G>A, XM_047445627.1:c.*2350G>T, XM_047445627.1:c.*2350G>A, XM_047445625.1:c.*2350G>T, XM_047445625.1:c.*2350G>A, XM_047445631.1:c.*2350G>T, XM_047445631.1:c.*2350G>A, XM_047445632.1:c.*2350G>T, XM_047445632.1:c.*2350G>A, XM_047445626.1:c.*2350G>T, XM_047445626.1:c.*2350G>A, XM_047445628.1:c.*2350G>T, XM_047445628.1:c.*2350G>A, XM_047445630.1:c.*2350G>T, XM_047445630.1:c.*2350G>A, XM_047445629.1:c.*2350G>T, XM_047445629.1:c.*2350G>A

                    10.

                    rs1486658716 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      2:70211381 (GRCh38)
                      2:70438513 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:70211380:C:A
                      Gene:
                      TIA1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      NC_000002.12:g.70211381C>A, NC_000002.11:g.70438513C>A, NG_029967.1:g.42267G>T, NM_022173.4:c.*1338G>T, NM_022173.3:c.*1338G>T, NM_022173.2:c.*1338G>T, NM_022037.4:c.*1338G>T, NM_022037.3:c.*1338G>T, NM_022037.2:c.*1338G>T, NR_147230.2:n.3015G>T, NR_147230.1:n.3180G>T, NR_147225.2:n.2949G>T, NR_147225.1:n.3114G>T, NR_147223.2:n.2916G>T, NR_147223.1:n.3081G>T, NM_001351517.2:c.*1338G>T, NM_001351517.1:c.*1338G>T, NR_147227.2:n.2867G>T, NR_147227.1:n.3032G>T, NR_147221.2:n.2863G>T, NR_147221.1:n.3028G>T, NR_147222.2:n.2858G>T, NR_147222.1:n.3023G>T, NR_147228.2:n.2830G>T, NR_147228.1:n.2995G>T, NR_147231.2:n.2827G>T, NR_147231.1:n.2992G>T, NR_147219.2:n.2806G>T, NR_147219.1:n.2971G>T, NR_147226.2:n.2797G>T, NR_147226.1:n.2962G>T, NR_147224.2:n.2794G>T, NR_147224.1:n.2959G>T, NR_147220.2:n.2792G>T, NR_147220.1:n.2957G>T, NM_001351515.2:c.*1338G>T, NM_001351515.1:c.*1338G>T, NR_147229.2:n.2773G>T, NR_147229.1:n.2938G>T, NM_001351525.2:c.*1338G>T, NM_001351525.1:c.*1338G>T, NR_147232.2:n.2700G>T, NR_147232.1:n.2865G>T, NM_001351508.2:c.*1338G>T, NM_001351508.1:c.*1338G>T, NM_001351524.2:c.*1338G>T, NM_001351524.1:c.*1338G>T, NM_001351509.2:c.*1338G>T, NM_001351509.1:c.*1338G>T, NM_001351510.2:c.*1338G>T, NM_001351510.1:c.*1338G>T, NM_001351514.2:c.*1338G>T, NM_001351514.1:c.*1338G>T, NR_147216.1:n.2856G>T, NR_147217.1:n.2737G>T, NR_147218.1:n.2734G>T, NM_001351511.1:c.*1338G>T, NM_001351512.1:c.*1338G>T, NM_001351513.1:c.*1338G>T, XM_005264528.6:c.*1338G>T, XM_005264528.5:c.*1338G>T, XM_005264528.4:c.*1338G>T, XM_005264528.3:c.*1338G>T, XM_005264528.2:c.*1338G>T, XM_005264528.1:c.*1338G>T, XM_047445627.1:c.*1338G>T, XM_047445625.1:c.*1338G>T, XM_047445631.1:c.*1338G>T, XM_047445632.1:c.*1338G>T, XM_047445626.1:c.*1338G>T, XM_047445628.1:c.*1338G>T, XM_047445630.1:c.*1338G>T, XM_047445629.1:c.*1338G>T

                      11.

                      rs1485706247 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        2:70211883 (GRCh38)
                        2:70439015 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:70211882:G:C
                        Gene:
                        TIA1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000019/5 (TOPMED)
                        HGVS:
                        NC_000002.12:g.70211883G>C, NC_000002.11:g.70439015G>C, NG_029967.1:g.41765C>G, NM_022173.4:c.*836C>G, NM_022173.3:c.*836C>G, NM_022173.2:c.*836C>G, NM_022037.4:c.*836C>G, NM_022037.3:c.*836C>G, NM_022037.2:c.*836C>G, NR_147230.2:n.2513C>G, NR_147230.1:n.2678C>G, NR_147225.2:n.2447C>G, NR_147225.1:n.2612C>G, NR_147223.2:n.2414C>G, NR_147223.1:n.2579C>G, NM_001351517.2:c.*836C>G, NM_001351517.1:c.*836C>G, NR_147227.2:n.2365C>G, NR_147227.1:n.2530C>G, NR_147221.2:n.2361C>G, NR_147221.1:n.2526C>G, NR_147222.2:n.2356C>G, NR_147222.1:n.2521C>G, NR_147228.2:n.2328C>G, NR_147228.1:n.2493C>G, NR_147231.2:n.2325C>G, NR_147231.1:n.2490C>G, NR_147219.2:n.2304C>G, NR_147219.1:n.2469C>G, NR_147226.2:n.2295C>G, NR_147226.1:n.2460C>G, NR_147224.2:n.2292C>G, NR_147224.1:n.2457C>G, NR_147220.2:n.2290C>G, NR_147220.1:n.2455C>G, NM_001351515.2:c.*836C>G, NM_001351515.1:c.*836C>G, NR_147229.2:n.2271C>G, NR_147229.1:n.2436C>G, NM_001351525.2:c.*836C>G, NM_001351525.1:c.*836C>G, NR_147232.2:n.2198C>G, NR_147232.1:n.2363C>G, NM_001351508.2:c.*836C>G, NM_001351508.1:c.*836C>G, NM_001351524.2:c.*836C>G, NM_001351524.1:c.*836C>G, NM_001351509.2:c.*836C>G, NM_001351509.1:c.*836C>G, NM_001351510.2:c.*836C>G, NM_001351510.1:c.*836C>G, NM_001351514.2:c.*836C>G, NM_001351514.1:c.*836C>G, NR_147216.1:n.2354C>G, NR_147217.1:n.2235C>G, NR_147218.1:n.2232C>G, NM_001351511.1:c.*836C>G, NM_001351512.1:c.*836C>G, NM_001351513.1:c.*836C>G, XM_005264528.6:c.*836C>G, XM_005264528.5:c.*836C>G, XM_005264528.4:c.*836C>G, XM_005264528.3:c.*836C>G, XM_005264528.2:c.*836C>G, XM_005264528.1:c.*836C>G, XM_047445627.1:c.*836C>G, XM_047445625.1:c.*836C>G, XM_047445631.1:c.*836C>G, XM_047445632.1:c.*836C>G, XM_047445626.1:c.*836C>G, XM_047445628.1:c.*836C>G, XM_047445630.1:c.*836C>G, XM_047445629.1:c.*836C>G

                        12.

                        rs1485612562 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:70212213 (GRCh38)
                          2:70439345 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:70212212:A:G
                          Gene:
                          TIA1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.70212213A>G, NC_000002.11:g.70439345A>G, NG_029967.1:g.41435T>C, NM_022173.4:c.*506T>C, NM_022173.3:c.*506T>C, NM_022173.2:c.*506T>C, NM_022037.4:c.*506T>C, NM_022037.3:c.*506T>C, NM_022037.2:c.*506T>C, NR_147230.2:n.2183T>C, NR_147230.1:n.2348T>C, NR_147225.2:n.2117T>C, NR_147225.1:n.2282T>C, NR_147223.2:n.2084T>C, NR_147223.1:n.2249T>C, NM_001351517.2:c.*506T>C, NM_001351517.1:c.*506T>C, NR_147227.2:n.2035T>C, NR_147227.1:n.2200T>C, NR_147221.2:n.2031T>C, NR_147221.1:n.2196T>C, NR_147222.2:n.2026T>C, NR_147222.1:n.2191T>C, NR_147228.2:n.1998T>C, NR_147228.1:n.2163T>C, NR_147231.2:n.1995T>C, NR_147231.1:n.2160T>C, NR_147219.2:n.1974T>C, NR_147219.1:n.2139T>C, NR_147226.2:n.1965T>C, NR_147226.1:n.2130T>C, NR_147224.2:n.1962T>C, NR_147224.1:n.2127T>C, NR_147220.2:n.1960T>C, NR_147220.1:n.2125T>C, NM_001351515.2:c.*506T>C, NM_001351515.1:c.*506T>C, NR_147229.2:n.1941T>C, NR_147229.1:n.2106T>C, NM_001351525.2:c.*506T>C, NM_001351525.1:c.*506T>C, NR_147232.2:n.1868T>C, NR_147232.1:n.2033T>C, NM_001351508.2:c.*506T>C, NM_001351508.1:c.*506T>C, NM_001351524.2:c.*506T>C, NM_001351524.1:c.*506T>C, NM_001351509.2:c.*506T>C, NM_001351509.1:c.*506T>C, NM_001351510.2:c.*506T>C, NM_001351510.1:c.*506T>C, NM_001351514.2:c.*506T>C, NM_001351514.1:c.*506T>C, NR_147216.1:n.2024T>C, NR_147217.1:n.1905T>C, NR_147218.1:n.1902T>C, NM_001351511.1:c.*506T>C, NM_001351512.1:c.*506T>C, NM_001351513.1:c.*506T>C, XM_005264528.6:c.*506T>C, XM_005264528.5:c.*506T>C, XM_005264528.4:c.*506T>C, XM_005264528.3:c.*506T>C, XM_005264528.2:c.*506T>C, XM_005264528.1:c.*506T>C, XM_047445627.1:c.*506T>C, XM_047445625.1:c.*506T>C, XM_047445631.1:c.*506T>C, XM_047445632.1:c.*506T>C, XM_047445626.1:c.*506T>C, XM_047445628.1:c.*506T>C, XM_047445630.1:c.*506T>C, XM_047445629.1:c.*506T>C

                          13.

                          rs1483329692 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:70216786 (GRCh38)
                            2:70443918 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:70216785:C:T
                            Gene:
                            TIA1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000111/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1482670246 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:70209884 (GRCh38)
                              2:70437016 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:70209883:G:A
                              Gene:
                              TIA1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000002.12:g.70209884G>A, NC_000002.11:g.70437016G>A, NG_029967.1:g.43764C>T, NM_022173.4:c.*2835C>T, NM_022173.3:c.*2835C>T, NM_022173.2:c.*2835C>T, NM_022037.4:c.*2835C>T, NM_022037.3:c.*2835C>T, NM_022037.2:c.*2835C>T, NR_147230.2:n.4512C>T, NR_147230.1:n.4677C>T, NR_147225.2:n.4446C>T, NR_147225.1:n.4611C>T, NR_147223.2:n.4413C>T, NR_147223.1:n.4578C>T, NM_001351517.2:c.*2835C>T, NM_001351517.1:c.*2835C>T, NR_147227.2:n.4364C>T, NR_147227.1:n.4529C>T, NR_147221.2:n.4360C>T, NR_147221.1:n.4525C>T, NR_147222.2:n.4355C>T, NR_147222.1:n.4520C>T, NR_147228.2:n.4327C>T, NR_147228.1:n.4492C>T, NR_147231.2:n.4324C>T, NR_147231.1:n.4489C>T, NR_147219.2:n.4303C>T, NR_147219.1:n.4468C>T, NR_147226.2:n.4294C>T, NR_147226.1:n.4459C>T, NR_147224.2:n.4291C>T, NR_147224.1:n.4456C>T, NR_147220.2:n.4289C>T, NR_147220.1:n.4454C>T, NM_001351515.2:c.*2835C>T, NM_001351515.1:c.*2835C>T, NR_147229.2:n.4270C>T, NR_147229.1:n.4435C>T, NM_001351525.2:c.*2835C>T, NM_001351525.1:c.*2835C>T, NR_147232.2:n.4197C>T, NR_147232.1:n.4362C>T, NM_001351508.2:c.*2835C>T, NM_001351508.1:c.*2835C>T, NM_001351524.2:c.*2835C>T, NM_001351524.1:c.*2835C>T, NM_001351509.2:c.*2835C>T, NM_001351509.1:c.*2835C>T, NM_001351510.2:c.*2835C>T, NM_001351510.1:c.*2835C>T, NM_001351514.2:c.*2835C>T, NM_001351514.1:c.*2835C>T, NR_147216.1:n.4353C>T, NR_147217.1:n.4234C>T, NR_147218.1:n.4231C>T, NM_001351511.1:c.*2835C>T, NM_001351512.1:c.*2835C>T, NM_001351513.1:c.*2835C>T, XM_005264528.6:c.*2835C>T, XM_005264528.5:c.*2835C>T, XM_005264528.4:c.*2835C>T, XM_005264528.3:c.*2835C>T, XM_005264528.2:c.*2835C>T, XM_005264528.1:c.*2835C>T, XM_047445627.1:c.*2835C>T, XM_047445625.1:c.*2835C>T, XM_047445631.1:c.*2835C>T, XM_047445632.1:c.*2835C>T, XM_047445626.1:c.*2835C>T, XM_047445628.1:c.*2835C>T, XM_047445630.1:c.*2835C>T, XM_047445629.1:c.*2835C>T

                              15.

                              rs1481369093 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:70228375 (GRCh38)
                                2:70455507 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:70228374:T:C
                                Gene:
                                TIA1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000008/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1479117867 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  2:70211269 (GRCh38)
                                  2:70438401 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:70211268:T:C,NC_000002.12:70211268:T:G
                                  Gene:
                                  TIA1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.70211269T>C, NC_000002.12:g.70211269T>G, NC_000002.11:g.70438401T>C, NC_000002.11:g.70438401T>G, NG_029967.1:g.42379A>G, NG_029967.1:g.42379A>C, NM_022173.4:c.*1450A>G, NM_022173.4:c.*1450A>C, NM_022173.3:c.*1450A>G, NM_022173.3:c.*1450A>C, NM_022173.2:c.*1450A>G, NM_022173.2:c.*1450A>C, NM_022037.4:c.*1450A>G, NM_022037.4:c.*1450A>C, NM_022037.3:c.*1450A>G, NM_022037.3:c.*1450A>C, NM_022037.2:c.*1450A>G, NM_022037.2:c.*1450A>C, NR_147230.2:n.3127A>G, NR_147230.2:n.3127A>C, NR_147230.1:n.3292A>G, NR_147230.1:n.3292A>C, NR_147225.2:n.3061A>G, NR_147225.2:n.3061A>C, NR_147225.1:n.3226A>G, NR_147225.1:n.3226A>C, NR_147223.2:n.3028A>G, NR_147223.2:n.3028A>C, NR_147223.1:n.3193A>G, NR_147223.1:n.3193A>C, NM_001351517.2:c.*1450A>G, NM_001351517.2:c.*1450A>C, NM_001351517.1:c.*1450A>G, NM_001351517.1:c.*1450A>C, NR_147227.2:n.2979A>G, NR_147227.2:n.2979A>C, NR_147227.1:n.3144A>G, NR_147227.1:n.3144A>C, NR_147221.2:n.2975A>G, NR_147221.2:n.2975A>C, NR_147221.1:n.3140A>G, NR_147221.1:n.3140A>C, NR_147222.2:n.2970A>G, NR_147222.2:n.2970A>C, NR_147222.1:n.3135A>G, NR_147222.1:n.3135A>C, NR_147228.2:n.2942A>G, NR_147228.2:n.2942A>C, NR_147228.1:n.3107A>G, NR_147228.1:n.3107A>C, NR_147231.2:n.2939A>G, NR_147231.2:n.2939A>C, NR_147231.1:n.3104A>G, NR_147231.1:n.3104A>C, NR_147219.2:n.2918A>G, NR_147219.2:n.2918A>C, NR_147219.1:n.3083A>G, NR_147219.1:n.3083A>C, NR_147226.2:n.2909A>G, NR_147226.2:n.2909A>C, NR_147226.1:n.3074A>G, NR_147226.1:n.3074A>C, NR_147224.2:n.2906A>G, NR_147224.2:n.2906A>C, NR_147224.1:n.3071A>G, NR_147224.1:n.3071A>C, NR_147220.2:n.2904A>G, NR_147220.2:n.2904A>C, NR_147220.1:n.3069A>G, NR_147220.1:n.3069A>C, NM_001351515.2:c.*1450A>G, NM_001351515.2:c.*1450A>C, NM_001351515.1:c.*1450A>G, NM_001351515.1:c.*1450A>C, NR_147229.2:n.2885A>G, NR_147229.2:n.2885A>C, NR_147229.1:n.3050A>G, NR_147229.1:n.3050A>C, NM_001351525.2:c.*1450A>G, NM_001351525.2:c.*1450A>C, NM_001351525.1:c.*1450A>G, NM_001351525.1:c.*1450A>C, NR_147232.2:n.2812A>G, NR_147232.2:n.2812A>C, NR_147232.1:n.2977A>G, NR_147232.1:n.2977A>C, NM_001351508.2:c.*1450A>G, NM_001351508.2:c.*1450A>C, NM_001351508.1:c.*1450A>G, NM_001351508.1:c.*1450A>C, NM_001351524.2:c.*1450A>G, NM_001351524.2:c.*1450A>C, NM_001351524.1:c.*1450A>G, NM_001351524.1:c.*1450A>C, NM_001351509.2:c.*1450A>G, NM_001351509.2:c.*1450A>C, NM_001351509.1:c.*1450A>G, NM_001351509.1:c.*1450A>C, NM_001351510.2:c.*1450A>G, NM_001351510.2:c.*1450A>C, NM_001351510.1:c.*1450A>G, NM_001351510.1:c.*1450A>C, NM_001351514.2:c.*1450A>G, NM_001351514.2:c.*1450A>C, NM_001351514.1:c.*1450A>G, NM_001351514.1:c.*1450A>C, NR_147216.1:n.2968A>G, NR_147216.1:n.2968A>C, NR_147217.1:n.2849A>G, NR_147217.1:n.2849A>C, NR_147218.1:n.2846A>G, NR_147218.1:n.2846A>C, NM_001351511.1:c.*1450A>G, NM_001351511.1:c.*1450A>C, NM_001351512.1:c.*1450A>G, NM_001351512.1:c.*1450A>C, NM_001351513.1:c.*1450A>G, NM_001351513.1:c.*1450A>C, XM_005264528.6:c.*1450A>G, XM_005264528.6:c.*1450A>C, XM_005264528.5:c.*1450A>G, XM_005264528.5:c.*1450A>C, XM_005264528.4:c.*1450A>G, XM_005264528.4:c.*1450A>C, XM_005264528.3:c.*1450A>G, XM_005264528.3:c.*1450A>C, XM_005264528.2:c.*1450A>G, XM_005264528.2:c.*1450A>C, XM_005264528.1:c.*1450A>G, XM_005264528.1:c.*1450A>C, XM_047445627.1:c.*1450A>G, XM_047445627.1:c.*1450A>C, XM_047445625.1:c.*1450A>G, XM_047445625.1:c.*1450A>C, XM_047445631.1:c.*1450A>G, XM_047445631.1:c.*1450A>C, XM_047445632.1:c.*1450A>G, XM_047445632.1:c.*1450A>C, XM_047445626.1:c.*1450A>G, XM_047445626.1:c.*1450A>C, XM_047445628.1:c.*1450A>G, XM_047445628.1:c.*1450A>C, XM_047445630.1:c.*1450A>G, XM_047445630.1:c.*1450A>C, XM_047445629.1:c.*1450A>G, XM_047445629.1:c.*1450A>C

                                  17.

                                  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

                                    18.

                                    rs1477781034 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:70228435 (GRCh38)
                                      2:70455567 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:70228434:T:C
                                      Gene:
                                      TIA1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000008/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1477706873 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:70210655 (GRCh38)
                                        2:70437787 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:70210654:A:G
                                        Gene:
                                        TIA1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.70210655A>G, NC_000002.11:g.70437787A>G, NG_029967.1:g.42993T>C, NM_022173.4:c.*2064T>C, NM_022173.3:c.*2064T>C, NM_022173.2:c.*2064T>C, NM_022037.4:c.*2064T>C, NM_022037.3:c.*2064T>C, NM_022037.2:c.*2064T>C, NR_147230.2:n.3741T>C, NR_147230.1:n.3906T>C, NR_147225.2:n.3675T>C, NR_147225.1:n.3840T>C, NR_147223.2:n.3642T>C, NR_147223.1:n.3807T>C, NM_001351517.2:c.*2064T>C, NM_001351517.1:c.*2064T>C, NR_147227.2:n.3593T>C, NR_147227.1:n.3758T>C, NR_147221.2:n.3589T>C, NR_147221.1:n.3754T>C, NR_147222.2:n.3584T>C, NR_147222.1:n.3749T>C, NR_147228.2:n.3556T>C, NR_147228.1:n.3721T>C, NR_147231.2:n.3553T>C, NR_147231.1:n.3718T>C, NR_147219.2:n.3532T>C, NR_147219.1:n.3697T>C, NR_147226.2:n.3523T>C, NR_147226.1:n.3688T>C, NR_147224.2:n.3520T>C, NR_147224.1:n.3685T>C, NR_147220.2:n.3518T>C, NR_147220.1:n.3683T>C, NM_001351515.2:c.*2064T>C, NM_001351515.1:c.*2064T>C, NR_147229.2:n.3499T>C, NR_147229.1:n.3664T>C, NM_001351525.2:c.*2064T>C, NM_001351525.1:c.*2064T>C, NR_147232.2:n.3426T>C, NR_147232.1:n.3591T>C, NM_001351508.2:c.*2064T>C, NM_001351508.1:c.*2064T>C, NM_001351524.2:c.*2064T>C, NM_001351524.1:c.*2064T>C, NM_001351509.2:c.*2064T>C, NM_001351509.1:c.*2064T>C, NM_001351510.2:c.*2064T>C, NM_001351510.1:c.*2064T>C, NM_001351514.2:c.*2064T>C, NM_001351514.1:c.*2064T>C, NR_147216.1:n.3582T>C, NR_147217.1:n.3463T>C, NR_147218.1:n.3460T>C, NM_001351511.1:c.*2064T>C, NM_001351512.1:c.*2064T>C, NM_001351513.1:c.*2064T>C, XM_005264528.6:c.*2064T>C, XM_005264528.5:c.*2064T>C, XM_005264528.4:c.*2064T>C, XM_005264528.3:c.*2064T>C, XM_005264528.2:c.*2064T>C, XM_005264528.1:c.*2064T>C, XM_047445627.1:c.*2064T>C, XM_047445625.1:c.*2064T>C, XM_047445631.1:c.*2064T>C, XM_047445632.1:c.*2064T>C, XM_047445626.1:c.*2064T>C, XM_047445628.1:c.*2064T>C, XM_047445630.1:c.*2064T>C, XM_047445629.1:c.*2064T>C

                                        20.

                                        rs1477025589 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GCT>- [Show Flanks]
                                          Chromosome:
                                          2:70210776 (GRCh38)
                                          2:70437908 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:70210772:GCTGCT:GCT
                                          Gene:
                                          TIA1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.70210773GCT[1], NC_000002.11:g.70437905GCT[1], NG_029967.1:g.42870AGC[1], NM_022173.4:c.*1941AGC[1], NM_022173.3:c.*1941AGC[1], NM_022173.2:c.*1941AGC[1], NM_022037.4:c.*1941AGC[1], NM_022037.3:c.*1941AGC[1], NM_022037.2:c.*1941AGC[1], NR_147230.2:n.3618AGC[1], NR_147230.1:n.3783AGC[1], NR_147225.2:n.3552AGC[1], NR_147225.1:n.3717AGC[1], NR_147223.2:n.3519AGC[1], NR_147223.1:n.3684AGC[1], NM_001351517.2:c.*1941AGC[1], NM_001351517.1:c.*1941AGC[1], NR_147227.2:n.3470AGC[1], NR_147227.1:n.3635AGC[1], NR_147221.2:n.3466AGC[1], NR_147221.1:n.3631AGC[1], NR_147222.2:n.3461AGC[1], NR_147222.1:n.3626AGC[1], NR_147228.2:n.3433AGC[1], NR_147228.1:n.3598AGC[1], NR_147231.2:n.3430AGC[1], NR_147231.1:n.3595AGC[1], NR_147219.2:n.3409AGC[1], NR_147219.1:n.3574AGC[1], NR_147226.2:n.3400AGC[1], NR_147226.1:n.3565AGC[1], NR_147224.2:n.3397AGC[1], NR_147224.1:n.3562AGC[1], NR_147220.2:n.3395AGC[1], NR_147220.1:n.3560AGC[1], NM_001351515.2:c.*1941AGC[1], NM_001351515.1:c.*1941AGC[1], NR_147229.2:n.3376AGC[1], NR_147229.1:n.3541AGC[1], NM_001351525.2:c.*1941AGC[1], NM_001351525.1:c.*1941AGC[1], NR_147232.2:n.3303AGC[1], NR_147232.1:n.3468AGC[1], NM_001351508.2:c.*1941AGC[1], NM_001351508.1:c.*1941AGC[1], NM_001351524.2:c.*1941AGC[1], NM_001351524.1:c.*1941AGC[1], NM_001351509.2:c.*1941AGC[1], NM_001351509.1:c.*1941AGC[1], NM_001351510.2:c.*1941AGC[1], NM_001351510.1:c.*1941AGC[1], NM_001351514.2:c.*1941AGC[1], NM_001351514.1:c.*1941AGC[1], NR_147216.1:n.3459AGC[1], NR_147217.1:n.3340AGC[1], NR_147218.1:n.3337AGC[1], NM_001351511.1:c.*1941AGC[1], NM_001351512.1:c.*1941AGC[1], NM_001351513.1:c.*1941AGC[1], XM_005264528.6:c.*1941AGC[1], XM_005264528.5:c.*1941AGC[1], XM_005264528.4:c.*1941AGC[1], XM_005264528.3:c.*1941AGC[1], XM_005264528.2:c.*1941AGC[1], XM_005264528.1:c.*1941AGC[1], XM_047445627.1:c.*1941AGC[1], XM_047445625.1:c.*1941AGC[1], XM_047445631.1:c.*1941AGC[1], XM_047445632.1:c.*1941AGC[1], XM_047445626.1:c.*1941AGC[1], XM_047445628.1:c.*1941AGC[1], XM_047445630.1:c.*1941AGC[1], XM_047445629.1:c.*1941AGC[1]

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