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Items: 1 to 20 of 422

1.

rs1488524843 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:24464071 (GRCh38)
    1:24790561 (GRCh37)
    Canonical SPDI:
    NC_000001.11:24464070:G:A
    Gene:
    NIPAL3 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000019/5 (TOPMED)
    HGVS:
    NC_000001.11:g.24464071G>A, NC_000001.10:g.24790561G>A, NM_020448.5:c.972G>A, NM_020448.4:c.972G>A, XM_011541808.3:c.930G>A, XM_011541808.2:c.930G>A, XM_011541808.1:c.930G>A, NM_001322855.2:c.972G>A, NM_001322855.1:c.972G>A, NM_001322856.2:c.972G>A, NM_001322856.1:c.972G>A, NM_001322858.2:c.489G>A, NM_001322858.1:c.489G>A, NM_001322854.2:c.972G>A, NM_001322854.1:c.972G>A, NM_001322862.2:c.726G>A, NM_001322862.1:c.726G>A, NM_001322863.2:c.726G>A, NM_001322863.1:c.726G>A, NM_001322866.2:c.945G>A, NM_001322866.1:c.945G>A, NR_136506.2:n.1235G>A, NR_136506.1:n.1287G>A, NR_136508.2:n.1196G>A, NR_136508.1:n.1248G>A, NM_001322868.2:c.819G>A, NM_001322868.1:c.819G>A, NM_001322859.2:c.489G>A, NM_001322859.1:c.489G>A, NM_001322860.2:c.489G>A, NM_001322860.1:c.489G>A, NM_001322864.2:c.969G>A, NM_001322864.1:c.969G>A, NR_136507.2:n.742G>A, NR_136507.1:n.794G>A, NM_001322861.2:c.489G>A, NM_001322861.1:c.489G>A, NM_001330409.2:c.972G>A, NM_001330409.1:c.972G>A, XM_017001868.2:c.969G>A, XM_017001868.1:c.969G>A, NM_001322857.1:c.972G>A, XM_047425988.1:c.972G>A, XM_047425991.1:c.930G>A

    2.

    rs1476822181 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:24456150 (GRCh38)
      1:24782640 (GRCh37)
      Canonical SPDI:
      NC_000001.11:24456149:T:C
      Gene:
      NIPAL3 (Varview)
      Functional Consequence:
      missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000011/3 (TOPMED)
      C=0.000012/3 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.24456150T>C, NC_000001.10:g.24782640T>C, NM_020448.5:c.650T>C, NM_020448.4:c.650T>C, XM_011541808.3:c.608T>C, XM_011541808.2:c.608T>C, XM_011541808.1:c.608T>C, NM_001322855.2:c.650T>C, NM_001322855.1:c.650T>C, NM_001322856.2:c.650T>C, NM_001322856.1:c.650T>C, NM_001322858.2:c.167T>C, NM_001322858.1:c.167T>C, NM_001322854.2:c.650T>C, NM_001322854.1:c.650T>C, NM_001322862.2:c.404T>C, NM_001322862.1:c.404T>C, NM_001322863.2:c.404T>C, NM_001322863.1:c.404T>C, NM_001322866.2:c.623T>C, NM_001322866.1:c.623T>C, NR_136506.2:n.913T>C, NR_136506.1:n.965T>C, NM_001322868.2:c.650T>C, NM_001322868.1:c.650T>C, NM_001322859.2:c.167T>C, NM_001322859.1:c.167T>C, NM_001322860.2:c.167T>C, NM_001322860.1:c.167T>C, NM_001322864.2:c.647T>C, NM_001322864.1:c.647T>C, NM_001322861.2:c.167T>C, NM_001322861.1:c.167T>C, NM_001330409.2:c.650T>C, NM_001330409.1:c.650T>C, XM_017001868.2:c.647T>C, XM_017001868.1:c.647T>C, NM_001322857.1:c.650T>C, XM_047425988.1:c.650T>C, XM_047425991.1:c.608T>C, NP_065181.1:p.Val217Ala, XP_011540110.1:p.Val203Ala, NP_001309784.1:p.Val217Ala, NP_001309785.1:p.Val217Ala, NP_001309787.1:p.Val56Ala, NP_001309783.1:p.Val217Ala, NP_001309791.1:p.Val135Ala, NP_001309792.1:p.Val135Ala, NP_001309795.1:p.Val208Ala, NP_001309797.1:p.Val217Ala, NP_001309788.1:p.Val56Ala, NP_001309789.1:p.Val56Ala, NP_001309793.1:p.Val216Ala, NP_001309790.1:p.Val56Ala, NP_001317338.1:p.Val217Ala, XP_016857357.1:p.Val216Ala, NP_001309786.1:p.Val217Ala, XP_047281944.1:p.Val217Ala, XP_047281947.1:p.Val203Ala

      3.

      rs1470786600 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        1:24456239 (GRCh38)
        1:24782729 (GRCh37)
        Canonical SPDI:
        NC_000001.11:24456238:G:A,NC_000001.11:24456238:G:C
        Gene:
        NIPAL3 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.00003/1 (ALFA)
        HGVS:
        NC_000001.11:g.24456239G>A, NC_000001.11:g.24456239G>C, NC_000001.10:g.24782729G>A, NC_000001.10:g.24782729G>C, NM_020448.5:c.739G>A, NM_020448.5:c.739G>C, NM_020448.4:c.739G>A, NM_020448.4:c.739G>C, XM_011541808.3:c.697G>A, XM_011541808.3:c.697G>C, XM_011541808.2:c.697G>A, XM_011541808.2:c.697G>C, XM_011541808.1:c.697G>A, XM_011541808.1:c.697G>C, NM_001322855.2:c.739G>A, NM_001322855.2:c.739G>C, NM_001322855.1:c.739G>A, NM_001322855.1:c.739G>C, NM_001322856.2:c.739G>A, NM_001322856.2:c.739G>C, NM_001322856.1:c.739G>A, NM_001322856.1:c.739G>C, NM_001322858.2:c.256G>A, NM_001322858.2:c.256G>C, NM_001322858.1:c.256G>A, NM_001322858.1:c.256G>C, NM_001322854.2:c.739G>A, NM_001322854.2:c.739G>C, NM_001322854.1:c.739G>A, NM_001322854.1:c.739G>C, NM_001322862.2:c.493G>A, NM_001322862.2:c.493G>C, NM_001322862.1:c.493G>A, NM_001322862.1:c.493G>C, NM_001322863.2:c.493G>A, NM_001322863.2:c.493G>C, NM_001322863.1:c.493G>A, NM_001322863.1:c.493G>C, NM_001322866.2:c.712G>A, NM_001322866.2:c.712G>C, NM_001322866.1:c.712G>A, NM_001322866.1:c.712G>C, NR_136506.2:n.1002G>A, NR_136506.2:n.1002G>C, NR_136506.1:n.1054G>A, NR_136506.1:n.1054G>C, NM_001322868.2:c.739G>A, NM_001322868.2:c.739G>C, NM_001322868.1:c.739G>A, NM_001322868.1:c.739G>C, NM_001322859.2:c.256G>A, NM_001322859.2:c.256G>C, NM_001322859.1:c.256G>A, NM_001322859.1:c.256G>C, NM_001322860.2:c.256G>A, NM_001322860.2:c.256G>C, NM_001322860.1:c.256G>A, NM_001322860.1:c.256G>C, NM_001322864.2:c.736G>A, NM_001322864.2:c.736G>C, NM_001322864.1:c.736G>A, NM_001322864.1:c.736G>C, NM_001322861.2:c.256G>A, NM_001322861.2:c.256G>C, NM_001322861.1:c.256G>A, NM_001322861.1:c.256G>C, NM_001330409.2:c.739G>A, NM_001330409.2:c.739G>C, NM_001330409.1:c.739G>A, NM_001330409.1:c.739G>C, XM_017001868.2:c.736G>A, XM_017001868.2:c.736G>C, XM_017001868.1:c.736G>A, XM_017001868.1:c.736G>C, NM_001322857.1:c.739G>A, NM_001322857.1:c.739G>C, XM_047425988.1:c.739G>A, XM_047425988.1:c.739G>C, XM_047425991.1:c.697G>A, XM_047425991.1:c.697G>C, NP_065181.1:p.Val247Met, NP_065181.1:p.Val247Leu, XP_011540110.1:p.Val233Met, XP_011540110.1:p.Val233Leu, NP_001309784.1:p.Val247Met, NP_001309784.1:p.Val247Leu, NP_001309785.1:p.Val247Met, NP_001309785.1:p.Val247Leu, NP_001309787.1:p.Val86Met, NP_001309787.1:p.Val86Leu, NP_001309783.1:p.Val247Met, NP_001309783.1:p.Val247Leu, NP_001309791.1:p.Val165Met, NP_001309791.1:p.Val165Leu, NP_001309792.1:p.Val165Met, NP_001309792.1:p.Val165Leu, NP_001309795.1:p.Val238Met, NP_001309795.1:p.Val238Leu, NP_001309797.1:p.Val247Met, NP_001309797.1:p.Val247Leu, NP_001309788.1:p.Val86Met, NP_001309788.1:p.Val86Leu, NP_001309789.1:p.Val86Met, NP_001309789.1:p.Val86Leu, NP_001309793.1:p.Val246Met, NP_001309793.1:p.Val246Leu, NP_001309790.1:p.Val86Met, NP_001309790.1:p.Val86Leu, NP_001317338.1:p.Val247Met, NP_001317338.1:p.Val247Leu, XP_016857357.1:p.Val246Met, XP_016857357.1:p.Val246Leu, NP_001309786.1:p.Val247Met, NP_001309786.1:p.Val247Leu, XP_047281944.1:p.Val247Met, XP_047281944.1:p.Val247Leu, XP_047281947.1:p.Val233Met, XP_047281947.1:p.Val233Leu

        4.

        rs1467987725 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:24469100 (GRCh38)
          1:24795590 (GRCh37)
          Canonical SPDI:
          NC_000001.11:24469099:C:T
          Gene:
          NIPAL3 (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000021/3 (GnomAD)
          T=0.000023/6 (TOPMED)
          HGVS:
          NC_000001.11:g.24469100C>T, NC_000001.10:g.24795590C>T, NM_020448.5:c.1136C>T, NM_020448.4:c.1136C>T, XM_011541808.3:c.1094C>T, XM_011541808.2:c.1094C>T, XM_011541808.1:c.1094C>T, NM_001322855.2:c.1136C>T, NM_001322855.1:c.1136C>T, NM_001322856.2:c.1136C>T, NM_001322856.1:c.1136C>T, NM_001322858.2:c.653C>T, NM_001322858.1:c.653C>T, NM_001322854.2:c.1136C>T, NM_001322854.1:c.1136C>T, NM_001322862.2:c.890C>T, NM_001322862.1:c.890C>T, NM_001322863.2:c.890C>T, NM_001322863.1:c.890C>T, NM_001322866.2:c.1109C>T, NM_001322866.1:c.1109C>T, NR_136506.2:n.1399C>T, NR_136506.1:n.1451C>T, NR_136508.2:n.1360C>T, NR_136508.1:n.1412C>T, NM_001322868.2:c.983C>T, NM_001322868.1:c.983C>T, NM_001322859.2:c.653C>T, NM_001322859.1:c.653C>T, NM_001322860.2:c.653C>T, NM_001322860.1:c.653C>T, NM_001322864.2:c.1133C>T, NM_001322864.1:c.1133C>T, NR_136507.2:n.906C>T, NR_136507.1:n.958C>T, NM_001322861.2:c.653C>T, NM_001322861.1:c.653C>T, NM_001322857.1:c.1136C>T, NP_065181.1:p.Thr379Ile, XP_011540110.1:p.Thr365Ile, NP_001309784.1:p.Thr379Ile, NP_001309785.1:p.Thr379Ile, NP_001309787.1:p.Thr218Ile, NP_001309783.1:p.Thr379Ile, NP_001309791.1:p.Thr297Ile, NP_001309792.1:p.Thr297Ile, NP_001309795.1:p.Thr370Ile, NP_001309797.1:p.Thr328Ile, NP_001309788.1:p.Thr218Ile, NP_001309789.1:p.Thr218Ile, NP_001309793.1:p.Thr378Ile, NP_001309790.1:p.Thr218Ile, NP_001309786.1:p.Thr379Ile

          5.

          rs1466801291 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            1:24464078 (GRCh38)
            1:24790568 (GRCh37)
            Canonical SPDI:
            NC_000001.11:24464077:C:A
            Gene:
            NIPAL3 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.24464078C>A, NC_000001.10:g.24790568C>A, NM_020448.5:c.979C>A, NM_020448.4:c.979C>A, XM_011541808.3:c.937C>A, XM_011541808.2:c.937C>A, XM_011541808.1:c.937C>A, NM_001322855.2:c.979C>A, NM_001322855.1:c.979C>A, NM_001322856.2:c.979C>A, NM_001322856.1:c.979C>A, NM_001322858.2:c.496C>A, NM_001322858.1:c.496C>A, NM_001322854.2:c.979C>A, NM_001322854.1:c.979C>A, NM_001322862.2:c.733C>A, NM_001322862.1:c.733C>A, NM_001322863.2:c.733C>A, NM_001322863.1:c.733C>A, NM_001322866.2:c.952C>A, NM_001322866.1:c.952C>A, NR_136506.2:n.1242C>A, NR_136506.1:n.1294C>A, NR_136508.2:n.1203C>A, NR_136508.1:n.1255C>A, NM_001322868.2:c.826C>A, NM_001322868.1:c.826C>A, NM_001322859.2:c.496C>A, NM_001322859.1:c.496C>A, NM_001322860.2:c.496C>A, NM_001322860.1:c.496C>A, NM_001322864.2:c.976C>A, NM_001322864.1:c.976C>A, NR_136507.2:n.749C>A, NR_136507.1:n.801C>A, NM_001322861.2:c.496C>A, NM_001322861.1:c.496C>A, NM_001330409.2:c.979C>A, NM_001330409.1:c.979C>A, XM_017001868.2:c.976C>A, XM_017001868.1:c.976C>A, NM_001322857.1:c.979C>A, XM_047425988.1:c.979C>A, XM_047425991.1:c.937C>A, NP_065181.1:p.Pro327Thr, XP_011540110.1:p.Pro313Thr, NP_001309784.1:p.Pro327Thr, NP_001309785.1:p.Pro327Thr, NP_001309787.1:p.Pro166Thr, NP_001309783.1:p.Pro327Thr, NP_001309791.1:p.Pro245Thr, NP_001309792.1:p.Pro245Thr, NP_001309795.1:p.Pro318Thr, NP_001309797.1:p.Pro276Thr, NP_001309788.1:p.Pro166Thr, NP_001309789.1:p.Pro166Thr, NP_001309793.1:p.Pro326Thr, NP_001309790.1:p.Pro166Thr, NP_001317338.1:p.Pro327Thr, XP_016857357.1:p.Pro326Thr, NP_001309786.1:p.Pro327Thr, XP_047281944.1:p.Pro327Thr, XP_047281947.1:p.Pro313Thr

            6.

            rs1458450258 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:24469123 (GRCh38)
              1:24795613 (GRCh37)
              Canonical SPDI:
              NC_000001.11:24469122:C:T
              Gene:
              NIPAL3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000111/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.24469123C>T, NC_000001.10:g.24795613C>T, NM_020448.5:c.1159C>T, NM_020448.4:c.1159C>T, XM_011541808.3:c.1117C>T, XM_011541808.2:c.1117C>T, XM_011541808.1:c.1117C>T, NM_001322855.2:c.1159C>T, NM_001322855.1:c.1159C>T, NM_001322856.2:c.1159C>T, NM_001322856.1:c.1159C>T, NM_001322858.2:c.676C>T, NM_001322858.1:c.676C>T, NM_001322854.2:c.1159C>T, NM_001322854.1:c.1159C>T, NM_001322862.2:c.913C>T, NM_001322862.1:c.913C>T, NM_001322863.2:c.913C>T, NM_001322863.1:c.913C>T, NM_001322866.2:c.1132C>T, NM_001322866.1:c.1132C>T, NR_136506.2:n.1422C>T, NR_136506.1:n.1474C>T, NR_136508.2:n.1383C>T, NR_136508.1:n.1435C>T, NM_001322868.2:c.1006C>T, NM_001322868.1:c.1006C>T, NM_001322859.2:c.676C>T, NM_001322859.1:c.676C>T, NM_001322860.2:c.676C>T, NM_001322860.1:c.676C>T, NM_001322864.2:c.1156C>T, NM_001322864.1:c.1156C>T, NR_136507.2:n.929C>T, NR_136507.1:n.981C>T, NM_001322861.2:c.676C>T, NM_001322861.1:c.676C>T, NM_001322857.1:c.1159C>T, NP_065181.1:p.His387Tyr, XP_011540110.1:p.His373Tyr, NP_001309784.1:p.His387Tyr, NP_001309785.1:p.His387Tyr, NP_001309787.1:p.His226Tyr, NP_001309783.1:p.His387Tyr, NP_001309791.1:p.His305Tyr, NP_001309792.1:p.His305Tyr, NP_001309795.1:p.His378Tyr, NP_001309797.1:p.His336Tyr, NP_001309788.1:p.His226Tyr, NP_001309789.1:p.His226Tyr, NP_001309793.1:p.His386Tyr, NP_001309790.1:p.His226Tyr, NP_001309786.1:p.His387Tyr

              7.

              rs1457413959 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                1:24453474 (GRCh38)
                1:24779964 (GRCh37)
                Canonical SPDI:
                NC_000001.11:24453473:G:A,NC_000001.11:24453473:G:T
                Gene:
                NIPAL3 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.24453474G>A, NC_000001.11:g.24453474G>T, NC_000001.10:g.24779964G>A, NC_000001.10:g.24779964G>T, NM_020448.5:c.607G>A, NM_020448.5:c.607G>T, NM_020448.4:c.607G>A, NM_020448.4:c.607G>T, XM_011541808.3:c.565G>A, XM_011541808.3:c.565G>T, XM_011541808.2:c.565G>A, XM_011541808.2:c.565G>T, XM_011541808.1:c.565G>A, XM_011541808.1:c.565G>T, NM_001322855.2:c.607G>A, NM_001322855.2:c.607G>T, NM_001322855.1:c.607G>A, NM_001322855.1:c.607G>T, NM_001322856.2:c.607G>A, NM_001322856.2:c.607G>T, NM_001322856.1:c.607G>A, NM_001322856.1:c.607G>T, NM_001322858.2:c.124G>A, NM_001322858.2:c.124G>T, NM_001322858.1:c.124G>A, NM_001322858.1:c.124G>T, NM_001322854.2:c.607G>A, NM_001322854.2:c.607G>T, NM_001322854.1:c.607G>A, NM_001322854.1:c.607G>T, NM_001322862.2:c.361G>A, NM_001322862.2:c.361G>T, NM_001322862.1:c.361G>A, NM_001322862.1:c.361G>T, NM_001322863.2:c.361G>A, NM_001322863.2:c.361G>T, NM_001322863.1:c.361G>A, NM_001322863.1:c.361G>T, NM_001322866.2:c.580G>A, NM_001322866.2:c.580G>T, NM_001322866.1:c.580G>A, NM_001322866.1:c.580G>T, NR_136508.2:n.967G>A, NR_136508.2:n.967G>T, NR_136508.1:n.1019G>A, NR_136508.1:n.1019G>T, NM_001322868.2:c.607G>A, NM_001322868.2:c.607G>T, NM_001322868.1:c.607G>A, NM_001322868.1:c.607G>T, NM_001322859.2:c.124G>A, NM_001322859.2:c.124G>T, NM_001322859.1:c.124G>A, NM_001322859.1:c.124G>T, NM_001322860.2:c.124G>A, NM_001322860.2:c.124G>T, NM_001322860.1:c.124G>A, NM_001322860.1:c.124G>T, NM_001322864.2:c.604G>A, NM_001322864.2:c.604G>T, NM_001322864.1:c.604G>A, NM_001322864.1:c.604G>T, NR_136507.2:n.666G>A, NR_136507.2:n.666G>T, NR_136507.1:n.718G>A, NR_136507.1:n.718G>T, NM_001322861.2:c.124G>A, NM_001322861.2:c.124G>T, NM_001322861.1:c.124G>A, NM_001322861.1:c.124G>T, NM_001330409.2:c.607G>A, NM_001330409.2:c.607G>T, NM_001330409.1:c.607G>A, NM_001330409.1:c.607G>T, NM_001322865.2:c.607G>A, NM_001322865.2:c.607G>T, NM_001322865.1:c.607G>A, NM_001322865.1:c.607G>T, XM_017001868.2:c.604G>A, XM_017001868.2:c.604G>T, XM_017001868.1:c.604G>A, XM_017001868.1:c.604G>T, NM_001322857.1:c.607G>A, NM_001322857.1:c.607G>T, XM_047425988.1:c.607G>A, XM_047425988.1:c.607G>T, XM_047425991.1:c.565G>A, XM_047425991.1:c.565G>T, NP_065181.1:p.Val203Ile, NP_065181.1:p.Val203Phe, XP_011540110.1:p.Val189Ile, XP_011540110.1:p.Val189Phe, NP_001309784.1:p.Val203Ile, NP_001309784.1:p.Val203Phe, NP_001309785.1:p.Val203Ile, NP_001309785.1:p.Val203Phe, NP_001309787.1:p.Val42Ile, NP_001309787.1:p.Val42Phe, NP_001309783.1:p.Val203Ile, NP_001309783.1:p.Val203Phe, NP_001309791.1:p.Val121Ile, NP_001309791.1:p.Val121Phe, NP_001309792.1:p.Val121Ile, NP_001309792.1:p.Val121Phe, NP_001309795.1:p.Val194Ile, NP_001309795.1:p.Val194Phe, NP_001309797.1:p.Val203Ile, NP_001309797.1:p.Val203Phe, NP_001309788.1:p.Val42Ile, NP_001309788.1:p.Val42Phe, NP_001309789.1:p.Val42Ile, NP_001309789.1:p.Val42Phe, NP_001309793.1:p.Val202Ile, NP_001309793.1:p.Val202Phe, NP_001309790.1:p.Val42Ile, NP_001309790.1:p.Val42Phe, NP_001317338.1:p.Val203Ile, NP_001317338.1:p.Val203Phe, NP_001309794.1:p.Val203Ile, NP_001309794.1:p.Val203Phe, XP_016857357.1:p.Val202Ile, XP_016857357.1:p.Val202Phe, NP_001309786.1:p.Val203Ile, NP_001309786.1:p.Val203Phe, XP_047281944.1:p.Val203Ile, XP_047281944.1:p.Val203Phe, XP_047281947.1:p.Val189Ile, XP_047281947.1:p.Val189Phe

                8.

                rs1455210808 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:24453423 (GRCh38)
                  1:24779913 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:24453422:C:G
                  Gene:
                  NIPAL3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.24453423C>G, NC_000001.10:g.24779913C>G, NM_020448.5:c.556C>G, NM_020448.4:c.556C>G, XM_011541808.3:c.514C>G, XM_011541808.2:c.514C>G, XM_011541808.1:c.514C>G, NM_001322855.2:c.556C>G, NM_001322855.1:c.556C>G, NM_001322856.2:c.556C>G, NM_001322856.1:c.556C>G, NM_001322858.2:c.73C>G, NM_001322858.1:c.73C>G, NM_001322854.2:c.556C>G, NM_001322854.1:c.556C>G, NM_001322862.2:c.310C>G, NM_001322862.1:c.310C>G, NM_001322863.2:c.310C>G, NM_001322863.1:c.310C>G, NM_001322866.2:c.529C>G, NM_001322866.1:c.529C>G, NR_136508.2:n.916C>G, NR_136508.1:n.968C>G, NM_001322868.2:c.556C>G, NM_001322868.1:c.556C>G, NM_001322859.2:c.73C>G, NM_001322859.1:c.73C>G, NM_001322860.2:c.73C>G, NM_001322860.1:c.73C>G, NM_001322864.2:c.553C>G, NM_001322864.1:c.553C>G, NR_136507.2:n.615C>G, NR_136507.1:n.667C>G, NM_001322861.2:c.73C>G, NM_001322861.1:c.73C>G, NM_001330409.2:c.556C>G, NM_001330409.1:c.556C>G, NM_001322865.2:c.556C>G, NM_001322865.1:c.556C>G, XM_017001868.2:c.553C>G, XM_017001868.1:c.553C>G, NM_001322857.1:c.556C>G, XM_047425988.1:c.556C>G, XM_047425991.1:c.514C>G, NP_065181.1:p.Leu186Val, XP_011540110.1:p.Leu172Val, NP_001309784.1:p.Leu186Val, NP_001309785.1:p.Leu186Val, NP_001309787.1:p.Leu25Val, NP_001309783.1:p.Leu186Val, NP_001309791.1:p.Leu104Val, NP_001309792.1:p.Leu104Val, NP_001309795.1:p.Leu177Val, NP_001309797.1:p.Leu186Val, NP_001309788.1:p.Leu25Val, NP_001309789.1:p.Leu25Val, NP_001309793.1:p.Leu185Val, NP_001309790.1:p.Leu25Val, NP_001317338.1:p.Leu186Val, NP_001309794.1:p.Leu186Val, XP_016857357.1:p.Leu185Val, NP_001309786.1:p.Leu186Val, XP_047281944.1:p.Leu186Val, XP_047281947.1:p.Leu172Val

                  9.

                  rs1449174900 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:24449529 (GRCh38)
                    1:24776019 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:24449528:C:T
                    Gene:
                    NIPAL3 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.24449529C>T, NC_000001.10:g.24776019C>T, NM_020448.5:c.443C>T, NM_020448.4:c.443C>T, XM_011541808.3:c.401C>T, XM_011541808.2:c.401C>T, XM_011541808.1:c.401C>T, NM_001322855.2:c.443C>T, NM_001322855.1:c.443C>T, NM_001322856.2:c.443C>T, NM_001322856.1:c.443C>T, NM_001322858.2:c.-41C>T, NM_001322858.1:c.-41C>T, NM_001322854.2:c.443C>T, NM_001322854.1:c.443C>T, NM_001322862.2:c.197C>T, NM_001322862.1:c.197C>T, NM_001322863.2:c.197C>T, NM_001322863.1:c.197C>T, NM_001322866.2:c.416C>T, NM_001322866.1:c.416C>T, NR_136506.2:n.803C>T, NR_136506.1:n.855C>T, NR_136508.2:n.803C>T, NR_136508.1:n.855C>T, NM_001322868.2:c.443C>T, NM_001322868.1:c.443C>T, NM_001322859.2:c.-41C>T, NM_001322859.1:c.-41C>T, NM_001322860.2:c.-41C>T, NM_001322860.1:c.-41C>T, NM_001322864.2:c.440C>T, NM_001322864.1:c.440C>T, NR_136507.2:n.502C>T, NR_136507.1:n.554C>T, NM_001322861.2:c.-41C>T, NM_001322861.1:c.-41C>T, NM_001330409.2:c.443C>T, NM_001330409.1:c.443C>T, NM_001322865.2:c.443C>T, NM_001322865.1:c.443C>T, XM_017001868.2:c.440C>T, XM_017001868.1:c.440C>T, NM_001322857.1:c.443C>T, XM_047425988.1:c.443C>T, XM_047425991.1:c.401C>T, NP_065181.1:p.Thr148Ile, XP_011540110.1:p.Thr134Ile, NP_001309784.1:p.Thr148Ile, NP_001309785.1:p.Thr148Ile, NP_001309783.1:p.Thr148Ile, NP_001309791.1:p.Thr66Ile, NP_001309792.1:p.Thr66Ile, NP_001309795.1:p.Thr139Ile, NP_001309797.1:p.Thr148Ile, NP_001309793.1:p.Thr147Ile, NP_001317338.1:p.Thr148Ile, NP_001309794.1:p.Thr148Ile, XP_016857357.1:p.Thr147Ile, NP_001309786.1:p.Thr148Ile, XP_047281944.1:p.Thr148Ile, XP_047281947.1:p.Thr134Ile

                    10.

                    rs1447591797 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:24419601 (GRCh38)
                      1:24746091 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:24419600:T:C
                      Gene:
                      NIPAL3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000001.11:g.24419601T>C, NC_000001.10:g.24746091T>C, NG_081986.1:g.1118T>C, NM_020448.5:c.54T>C, NM_020448.4:c.54T>C, NM_001322855.2:c.54T>C, NM_001322855.1:c.54T>C, NM_001322856.2:c.54T>C, NM_001322856.1:c.54T>C, NM_001322858.2:c.-580T>C, NM_001322858.1:c.-580T>C, NM_001322854.2:c.54T>C, NM_001322854.1:c.54T>C, NM_001322862.2:c.-303T>C, NM_001322862.1:c.-303T>C, NM_001322863.2:c.-275T>C, NM_001322863.1:c.-275T>C, NM_001322866.2:c.54T>C, NM_001322866.1:c.54T>C, NR_136506.2:n.414T>C, NR_136506.1:n.466T>C, NR_136508.2:n.414T>C, NR_136508.1:n.466T>C, NM_001322868.2:c.54T>C, NM_001322868.1:c.54T>C, NM_001322859.2:c.-189T>C, NM_001322859.1:c.-189T>C, NM_001322860.2:c.-129T>C, NM_001322860.1:c.-129T>C, NR_136507.2:n.414T>C, NR_136507.1:n.466T>C, NM_001330409.2:c.54T>C, NM_001330409.1:c.54T>C, NM_001322865.2:c.54T>C, NM_001322865.1:c.54T>C, NM_001322857.1:c.54T>C, XM_047425988.1:c.54T>C

                      11.

                      rs1446637250 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        1:24469095 (GRCh38)
                        1:24795585 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:24469094:T:G
                        Gene:
                        NIPAL3 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.24469095T>G, NC_000001.10:g.24795585T>G, NM_020448.5:c.1131T>G, NM_020448.4:c.1131T>G, XM_011541808.3:c.1089T>G, XM_011541808.2:c.1089T>G, XM_011541808.1:c.1089T>G, NM_001322855.2:c.1131T>G, NM_001322855.1:c.1131T>G, NM_001322856.2:c.1131T>G, NM_001322856.1:c.1131T>G, NM_001322858.2:c.648T>G, NM_001322858.1:c.648T>G, NM_001322854.2:c.1131T>G, NM_001322854.1:c.1131T>G, NM_001322862.2:c.885T>G, NM_001322862.1:c.885T>G, NM_001322863.2:c.885T>G, NM_001322863.1:c.885T>G, NM_001322866.2:c.1104T>G, NM_001322866.1:c.1104T>G, NR_136506.2:n.1394T>G, NR_136506.1:n.1446T>G, NR_136508.2:n.1355T>G, NR_136508.1:n.1407T>G, NM_001322868.2:c.978T>G, NM_001322868.1:c.978T>G, NM_001322859.2:c.648T>G, NM_001322859.1:c.648T>G, NM_001322860.2:c.648T>G, NM_001322860.1:c.648T>G, NM_001322864.2:c.1128T>G, NM_001322864.1:c.1128T>G, NR_136507.2:n.901T>G, NR_136507.1:n.953T>G, NM_001322861.2:c.648T>G, NM_001322861.1:c.648T>G, NM_001322857.1:c.1131T>G

                        12.

                        rs1442199953 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:24469080 (GRCh38)
                          1:24795570 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:24469079:T:C
                          Gene:
                          NIPAL3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.24469080T>C, NC_000001.10:g.24795570T>C, NM_020448.5:c.1116T>C, NM_020448.4:c.1116T>C, XM_011541808.3:c.1074T>C, XM_011541808.2:c.1074T>C, XM_011541808.1:c.1074T>C, NM_001322855.2:c.1116T>C, NM_001322855.1:c.1116T>C, NM_001322856.2:c.1116T>C, NM_001322856.1:c.1116T>C, NM_001322858.2:c.633T>C, NM_001322858.1:c.633T>C, NM_001322854.2:c.1116T>C, NM_001322854.1:c.1116T>C, NM_001322862.2:c.870T>C, NM_001322862.1:c.870T>C, NM_001322863.2:c.870T>C, NM_001322863.1:c.870T>C, NM_001322866.2:c.1089T>C, NM_001322866.1:c.1089T>C, NR_136506.2:n.1379T>C, NR_136506.1:n.1431T>C, NR_136508.2:n.1340T>C, NR_136508.1:n.1392T>C, NM_001322868.2:c.963T>C, NM_001322868.1:c.963T>C, NM_001322859.2:c.633T>C, NM_001322859.1:c.633T>C, NM_001322860.2:c.633T>C, NM_001322860.1:c.633T>C, NM_001322864.2:c.1113T>C, NM_001322864.1:c.1113T>C, NR_136507.2:n.886T>C, NR_136507.1:n.938T>C, NM_001322861.2:c.633T>C, NM_001322861.1:c.633T>C, NM_001322857.1:c.1116T>C

                          13.

                          rs1439835369 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            1:24449506 (GRCh38)
                            1:24775996 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:24449505:C:G
                            Gene:
                            NIPAL3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000001.11:g.24449506C>G, NC_000001.10:g.24775996C>G, NM_020448.5:c.420C>G, NM_020448.4:c.420C>G, XM_011541808.3:c.378C>G, XM_011541808.2:c.378C>G, XM_011541808.1:c.378C>G, NM_001322855.2:c.420C>G, NM_001322855.1:c.420C>G, NM_001322856.2:c.420C>G, NM_001322856.1:c.420C>G, NM_001322858.2:c.-64C>G, NM_001322858.1:c.-64C>G, NM_001322854.2:c.420C>G, NM_001322854.1:c.420C>G, NM_001322862.2:c.174C>G, NM_001322862.1:c.174C>G, NM_001322863.2:c.174C>G, NM_001322863.1:c.174C>G, NM_001322866.2:c.393C>G, NM_001322866.1:c.393C>G, NR_136506.2:n.780C>G, NR_136506.1:n.832C>G, NR_136508.2:n.780C>G, NR_136508.1:n.832C>G, NM_001322868.2:c.420C>G, NM_001322868.1:c.420C>G, NM_001322859.2:c.-64C>G, NM_001322859.1:c.-64C>G, NM_001322860.2:c.-64C>G, NM_001322860.1:c.-64C>G, NM_001322864.2:c.417C>G, NM_001322864.1:c.417C>G, NR_136507.2:n.479C>G, NR_136507.1:n.531C>G, NM_001322861.2:c.-64C>G, NM_001322861.1:c.-64C>G, NM_001330409.2:c.420C>G, NM_001330409.1:c.420C>G, NM_001322865.2:c.420C>G, NM_001322865.1:c.420C>G, XM_017001868.2:c.417C>G, XM_017001868.1:c.417C>G, NM_001322857.1:c.420C>G, XM_047425988.1:c.420C>G, XM_047425991.1:c.378C>G

                            14.

                            rs1439289533 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:24442168 (GRCh38)
                              1:24768658 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:24442167:C:T
                              Gene:
                              NIPAL3 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000043/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000001.11:g.24442168C>T, NC_000001.10:g.24768658C>T, NM_020448.5:c.276C>T, NM_020448.4:c.276C>T, XM_011541808.3:c.234C>T, XM_011541808.2:c.234C>T, XM_011541808.1:c.234C>T, NM_001322855.2:c.276C>T, NM_001322855.1:c.276C>T, NM_001322856.2:c.276C>T, NM_001322856.1:c.276C>T, NM_001322858.2:c.-358C>T, NM_001322858.1:c.-358C>T, NM_001322854.2:c.276C>T, NM_001322854.1:c.276C>T, NM_001322862.2:c.30C>T, NM_001322862.1:c.30C>T, NM_001322863.2:c.30C>T, NM_001322863.1:c.30C>T, NM_001322866.2:c.249C>T, NM_001322866.1:c.249C>T, NR_136506.2:n.636C>T, NR_136506.1:n.688C>T, NR_136508.2:n.636C>T, NR_136508.1:n.688C>T, NM_001322868.2:c.276C>T, NM_001322868.1:c.276C>T, NM_001322864.2:c.273C>T, NM_001322864.1:c.273C>T, NM_001330409.2:c.276C>T, NM_001330409.1:c.276C>T, NM_001322865.2:c.276C>T, NM_001322865.1:c.276C>T, XM_017001868.2:c.273C>T, XM_017001868.1:c.273C>T, NM_001322857.1:c.276C>T, XM_047425988.1:c.276C>T, XM_047425991.1:c.234C>T

                              15.

                              rs1437691029 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:24458912 (GRCh38)
                                1:24785402 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:24458911:G:A
                                Gene:
                                NIPAL3 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000047/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.24458912G>A, NC_000001.10:g.24785402G>A, NM_020448.5:c.798G>A, NM_020448.4:c.798G>A, XM_011541808.3:c.756G>A, XM_011541808.2:c.756G>A, XM_011541808.1:c.756G>A, NM_001322855.2:c.798G>A, NM_001322855.1:c.798G>A, NM_001322856.2:c.798G>A, NM_001322856.1:c.798G>A, NM_001322858.2:c.315G>A, NM_001322858.1:c.315G>A, NM_001322854.2:c.798G>A, NM_001322854.1:c.798G>A, NM_001322862.2:c.552G>A, NM_001322862.1:c.552G>A, NM_001322863.2:c.552G>A, NM_001322863.1:c.552G>A, NM_001322866.2:c.771G>A, NM_001322866.1:c.771G>A, NR_136506.2:n.1061G>A, NR_136506.1:n.1113G>A, NR_136508.2:n.1022G>A, NR_136508.1:n.1074G>A, NM_001322859.2:c.315G>A, NM_001322859.1:c.315G>A, NM_001322860.2:c.315G>A, NM_001322860.1:c.315G>A, NM_001322864.2:c.795G>A, NM_001322864.1:c.795G>A, NM_001322861.2:c.315G>A, NM_001322861.1:c.315G>A, NM_001330409.2:c.798G>A, NM_001330409.1:c.798G>A, XM_017001868.2:c.795G>A, XM_017001868.1:c.795G>A, NM_001322857.1:c.798G>A, XM_047425988.1:c.798G>A, XM_047425991.1:c.756G>A, NP_065181.1:p.Met266Ile, XP_011540110.1:p.Met252Ile, NP_001309784.1:p.Met266Ile, NP_001309785.1:p.Met266Ile, NP_001309787.1:p.Met105Ile, NP_001309783.1:p.Met266Ile, NP_001309791.1:p.Met184Ile, NP_001309792.1:p.Met184Ile, NP_001309795.1:p.Met257Ile, NP_001309788.1:p.Met105Ile, NP_001309789.1:p.Met105Ile, NP_001309793.1:p.Met265Ile, NP_001309790.1:p.Met105Ile, NP_001317338.1:p.Met266Ile, XP_016857357.1:p.Met265Ile, NP_001309786.1:p.Met266Ile, XP_047281944.1:p.Met266Ile, XP_047281947.1:p.Met252Ile

                                16.

                                rs1434551086 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:24442160 (GRCh38)
                                  1:24768650 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:24442159:G:A
                                  Gene:
                                  NIPAL3 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.24442160G>A, NC_000001.10:g.24768650G>A, NM_020448.5:c.268G>A, NM_020448.4:c.268G>A, XM_011541808.3:c.226G>A, XM_011541808.2:c.226G>A, XM_011541808.1:c.226G>A, NM_001322855.2:c.268G>A, NM_001322855.1:c.268G>A, NM_001322856.2:c.268G>A, NM_001322856.1:c.268G>A, NM_001322858.2:c.-366G>A, NM_001322858.1:c.-366G>A, NM_001322854.2:c.268G>A, NM_001322854.1:c.268G>A, NM_001322862.2:c.22G>A, NM_001322862.1:c.22G>A, NM_001322863.2:c.22G>A, NM_001322863.1:c.22G>A, NM_001322866.2:c.241G>A, NM_001322866.1:c.241G>A, NR_136506.2:n.628G>A, NR_136506.1:n.680G>A, NR_136508.2:n.628G>A, NR_136508.1:n.680G>A, NM_001322868.2:c.268G>A, NM_001322868.1:c.268G>A, NM_001322864.2:c.265G>A, NM_001322864.1:c.265G>A, NM_001330409.2:c.268G>A, NM_001330409.1:c.268G>A, NM_001322865.2:c.268G>A, NM_001322865.1:c.268G>A, XM_017001868.2:c.265G>A, XM_017001868.1:c.265G>A, NM_001322857.1:c.268G>A, XM_047425988.1:c.268G>A, XM_047425991.1:c.226G>A, NP_065181.1:p.Val90Met, XP_011540110.1:p.Val76Met, NP_001309784.1:p.Val90Met, NP_001309785.1:p.Val90Met, NP_001309783.1:p.Val90Met, NP_001309791.1:p.Val8Met, NP_001309792.1:p.Val8Met, NP_001309795.1:p.Val81Met, NP_001309797.1:p.Val90Met, NP_001309793.1:p.Val89Met, NP_001317338.1:p.Val90Met, NP_001309794.1:p.Val90Met, XP_016857357.1:p.Val89Met, NP_001309786.1:p.Val90Met, XP_047281944.1:p.Val90Met, XP_047281947.1:p.Val76Met

                                  17.

                                  rs1433962009 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:24453411 (GRCh38)
                                    1:24779901 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:24453410:G:A
                                    Gene:
                                    NIPAL3 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.24453411G>A, NC_000001.10:g.24779901G>A, NM_020448.5:c.544G>A, NM_020448.4:c.544G>A, XM_011541808.3:c.502G>A, XM_011541808.2:c.502G>A, XM_011541808.1:c.502G>A, NM_001322855.2:c.544G>A, NM_001322855.1:c.544G>A, NM_001322856.2:c.544G>A, NM_001322856.1:c.544G>A, NM_001322858.2:c.61G>A, NM_001322858.1:c.61G>A, NM_001322854.2:c.544G>A, NM_001322854.1:c.544G>A, NM_001322862.2:c.298G>A, NM_001322862.1:c.298G>A, NM_001322863.2:c.298G>A, NM_001322863.1:c.298G>A, NM_001322866.2:c.517G>A, NM_001322866.1:c.517G>A, NR_136508.2:n.904G>A, NR_136508.1:n.956G>A, NM_001322868.2:c.544G>A, NM_001322868.1:c.544G>A, NM_001322859.2:c.61G>A, NM_001322859.1:c.61G>A, NM_001322860.2:c.61G>A, NM_001322860.1:c.61G>A, NM_001322864.2:c.541G>A, NM_001322864.1:c.541G>A, NR_136507.2:n.603G>A, NR_136507.1:n.655G>A, NM_001322861.2:c.61G>A, NM_001322861.1:c.61G>A, NM_001330409.2:c.544G>A, NM_001330409.1:c.544G>A, NM_001322865.2:c.544G>A, NM_001322865.1:c.544G>A, XM_017001868.2:c.541G>A, XM_017001868.1:c.541G>A, NM_001322857.1:c.544G>A, XM_047425988.1:c.544G>A, XM_047425991.1:c.502G>A, NP_065181.1:p.Val182Met, XP_011540110.1:p.Val168Met, NP_001309784.1:p.Val182Met, NP_001309785.1:p.Val182Met, NP_001309787.1:p.Val21Met, NP_001309783.1:p.Val182Met, NP_001309791.1:p.Val100Met, NP_001309792.1:p.Val100Met, NP_001309795.1:p.Val173Met, NP_001309797.1:p.Val182Met, NP_001309788.1:p.Val21Met, NP_001309789.1:p.Val21Met, NP_001309793.1:p.Val181Met, NP_001309790.1:p.Val21Met, NP_001317338.1:p.Val182Met, NP_001309794.1:p.Val182Met, XP_016857357.1:p.Val181Met, NP_001309786.1:p.Val182Met, XP_047281944.1:p.Val182Met, XP_047281947.1:p.Val168Met

                                    18.

                                    rs1433257753 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:24456158 (GRCh38)
                                      1:24782648 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:24456157:G:A
                                      Gene:
                                      NIPAL3 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.24456158G>A, NC_000001.10:g.24782648G>A, NM_020448.5:c.658G>A, NM_020448.4:c.658G>A, XM_011541808.3:c.616G>A, XM_011541808.2:c.616G>A, XM_011541808.1:c.616G>A, NM_001322855.2:c.658G>A, NM_001322855.1:c.658G>A, NM_001322856.2:c.658G>A, NM_001322856.1:c.658G>A, NM_001322858.2:c.175G>A, NM_001322858.1:c.175G>A, NM_001322854.2:c.658G>A, NM_001322854.1:c.658G>A, NM_001322862.2:c.412G>A, NM_001322862.1:c.412G>A, NM_001322863.2:c.412G>A, NM_001322863.1:c.412G>A, NM_001322866.2:c.631G>A, NM_001322866.1:c.631G>A, NR_136506.2:n.921G>A, NR_136506.1:n.973G>A, NM_001322868.2:c.658G>A, NM_001322868.1:c.658G>A, NM_001322859.2:c.175G>A, NM_001322859.1:c.175G>A, NM_001322860.2:c.175G>A, NM_001322860.1:c.175G>A, NM_001322864.2:c.655G>A, NM_001322864.1:c.655G>A, NM_001322861.2:c.175G>A, NM_001322861.1:c.175G>A, NM_001330409.2:c.658G>A, NM_001330409.1:c.658G>A, XM_017001868.2:c.655G>A, XM_017001868.1:c.655G>A, NM_001322857.1:c.658G>A, XM_047425988.1:c.658G>A, XM_047425991.1:c.616G>A, NP_065181.1:p.Val220Ile, XP_011540110.1:p.Val206Ile, NP_001309784.1:p.Val220Ile, NP_001309785.1:p.Val220Ile, NP_001309787.1:p.Val59Ile, NP_001309783.1:p.Val220Ile, NP_001309791.1:p.Val138Ile, NP_001309792.1:p.Val138Ile, NP_001309795.1:p.Val211Ile, NP_001309797.1:p.Val220Ile, NP_001309788.1:p.Val59Ile, NP_001309789.1:p.Val59Ile, NP_001309793.1:p.Val219Ile, NP_001309790.1:p.Val59Ile, NP_001317338.1:p.Val220Ile, XP_016857357.1:p.Val219Ile, NP_001309786.1:p.Val220Ile, XP_047281944.1:p.Val220Ile, XP_047281947.1:p.Val206Ile

                                      19.

                                      rs1427447779 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:24460484 (GRCh38)
                                        1:24786974 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:24460483:C:G
                                        Gene:
                                        NIPAL3 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000013/3 (GnomAD_exomes)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.24460484C>G, NC_000001.10:g.24786974C>G, NM_020448.5:c.866C>G, NM_020448.4:c.866C>G, XM_011541808.3:c.824C>G, XM_011541808.2:c.824C>G, XM_011541808.1:c.824C>G, NM_001322855.2:c.866C>G, NM_001322855.1:c.866C>G, NM_001322856.2:c.866C>G, NM_001322856.1:c.866C>G, NM_001322858.2:c.383C>G, NM_001322858.1:c.383C>G, NM_001322854.2:c.866C>G, NM_001322854.1:c.866C>G, NM_001322862.2:c.620C>G, NM_001322862.1:c.620C>G, NM_001322863.2:c.620C>G, NM_001322863.1:c.620C>G, NM_001322866.2:c.839C>G, NM_001322866.1:c.839C>G, NR_136506.2:n.1129C>G, NR_136506.1:n.1181C>G, NR_136508.2:n.1090C>G, NR_136508.1:n.1142C>G, NM_001322859.2:c.383C>G, NM_001322859.1:c.383C>G, NM_001322860.2:c.383C>G, NM_001322860.1:c.383C>G, NM_001322864.2:c.863C>G, NM_001322864.1:c.863C>G, NM_001322861.2:c.383C>G, NM_001322861.1:c.383C>G, NM_001330409.2:c.866C>G, NM_001330409.1:c.866C>G, XM_017001868.2:c.863C>G, XM_017001868.1:c.863C>G, NM_001322857.1:c.866C>G, XM_047425988.1:c.866C>G, XM_047425991.1:c.824C>G, NP_065181.1:p.Ala289Gly, XP_011540110.1:p.Ala275Gly, NP_001309784.1:p.Ala289Gly, NP_001309785.1:p.Ala289Gly, NP_001309787.1:p.Ala128Gly, NP_001309783.1:p.Ala289Gly, NP_001309791.1:p.Ala207Gly, NP_001309792.1:p.Ala207Gly, NP_001309795.1:p.Ala280Gly, NP_001309788.1:p.Ala128Gly, NP_001309789.1:p.Ala128Gly, NP_001309793.1:p.Ala288Gly, NP_001309790.1:p.Ala128Gly, NP_001317338.1:p.Ala289Gly, XP_016857357.1:p.Ala288Gly, NP_001309786.1:p.Ala289Gly, XP_047281944.1:p.Ala289Gly, XP_047281947.1:p.Ala275Gly

                                        20.

                                        rs1425509184 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:24419563 (GRCh38)
                                          1:24746053 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:24419562:A:G
                                          Gene:
                                          NIPAL3 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.24419563A>G, NC_000001.10:g.24746053A>G, NG_081986.1:g.1080A>G, NM_020448.5:c.16A>G, NM_020448.4:c.16A>G, NM_001322855.2:c.16A>G, NM_001322855.1:c.16A>G, NM_001322856.2:c.16A>G, NM_001322856.1:c.16A>G, NM_001322858.2:c.-618A>G, NM_001322858.1:c.-618A>G, NM_001322854.2:c.16A>G, NM_001322854.1:c.16A>G, NM_001322862.2:c.-341A>G, NM_001322862.1:c.-341A>G, NM_001322863.2:c.-313A>G, NM_001322863.1:c.-313A>G, NM_001322866.2:c.16A>G, NM_001322866.1:c.16A>G, NR_136506.2:n.376A>G, NR_136506.1:n.428A>G, NR_136508.2:n.376A>G, NR_136508.1:n.428A>G, NM_001322868.2:c.16A>G, NM_001322868.1:c.16A>G, NM_001322859.2:c.-227A>G, NM_001322859.1:c.-227A>G, NM_001322860.2:c.-167A>G, NM_001322860.1:c.-167A>G, NR_136507.2:n.376A>G, NR_136507.1:n.428A>G, NM_001330409.2:c.16A>G, NM_001330409.1:c.16A>G, NM_001322865.2:c.16A>G, NM_001322865.1:c.16A>G, NM_001322857.1:c.16A>G, XM_047425988.1:c.16A>G, NP_065181.1:p.Ser6Gly, NP_001309784.1:p.Ser6Gly, NP_001309785.1:p.Ser6Gly, NP_001309783.1:p.Ser6Gly, NP_001309795.1:p.Ser6Gly, NP_001309797.1:p.Ser6Gly, NP_001317338.1:p.Ser6Gly, NP_001309794.1:p.Ser6Gly, NP_001309786.1:p.Ser6Gly, XP_047281944.1:p.Ser6Gly

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