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Items: 1 to 20 of 1039

1.

rs1490361334 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:184380794 (GRCh38)
    3:184098582 (GRCh37)
    Canonical SPDI:
    NC_000003.12:184380793:C:T
    Gene:
    THPO (Varview), CHRD (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000003.12:g.184380794C>T, NC_000003.11:g.184098582C>T, NG_029559.1:g.5722C>T, NM_003741.4:c.251C>T, NM_003741.3:c.251C>T, NM_003741.2:c.251C>T, NR_130747.2:n.260C>T, NR_130747.1:n.497C>T, NM_001304473.2:c.-886C>T, NM_001304473.1:c.-886C>T, NM_001304474.2:c.-831C>T, NM_001304474.1:c.-831C>T, NM_001304472.2:c.251C>T, NM_001304472.1:c.251C>T, NG_012136.1:g.2351G>A, XM_017007388.2:c.251C>T, XM_017007388.1:c.251C>T, XM_017007390.2:c.251C>T, XM_017007390.1:c.251C>T, XM_011513254.2:c.251C>T, XM_011513254.1:c.251C>T, XM_017007389.2:c.251C>T, XM_017007389.1:c.251C>T, XM_017007391.2:c.251C>T, XM_017007391.1:c.251C>T, XM_017007392.2:c.251C>T, XM_017007392.1:c.251C>T, XM_017007393.2:c.251C>T, XM_017007393.1:c.251C>T, NM_177978.1:c.251C>T, NM_177979.1:c.251C>T, XM_047449110.1:c.251C>T, XM_047449111.1:c.251C>T, NP_003732.2:p.Ala84Val, NP_001291401.1:p.Ala84Val, XP_016862877.1:p.Ala84Val, XP_016862879.1:p.Ala84Val, XP_011511556.1:p.Ala84Val, XP_016862878.1:p.Ala84Val, XP_016862880.1:p.Ala84Val, XP_016862881.1:p.Ala84Val, XP_016862882.1:p.Ala84Val, XP_047305066.1:p.Ala84Val, XP_047305067.1:p.Ala84Val

    2.

    rs1490182810 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:184382468 (GRCh38)
      3:184100256 (GRCh37)
      Canonical SPDI:
      NC_000003.12:184382467:C:T
      Gene:
      CHRD (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000224/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      T=0.000223/1 (Estonian)
      HGVS:
      NC_000003.12:g.184382468C>T, NC_000003.11:g.184100256C>T, NG_029559.1:g.7396C>T, NM_003741.4:c.779C>T, NM_003741.3:c.779C>T, NM_003741.2:c.779C>T, NR_130747.2:n.788C>T, NR_130747.1:n.1025C>T, NM_001304473.2:c.-303C>T, NM_001304473.1:c.-303C>T, NM_001304474.2:c.-303C>T, NM_001304474.1:c.-303C>T, NM_001304472.2:c.779C>T, NM_001304472.1:c.779C>T, NG_012136.1:g.677G>A, XM_017007388.2:c.779C>T, XM_017007388.1:c.779C>T, XM_017007390.2:c.779C>T, XM_017007390.1:c.779C>T, XM_011513254.2:c.779C>T, XM_011513254.1:c.779C>T, XM_017007389.2:c.779C>T, XM_017007389.1:c.779C>T, XM_017007391.2:c.779C>T, XM_017007391.1:c.779C>T, XM_017007392.2:c.779C>T, XM_017007392.1:c.779C>T, XM_017007393.2:c.779C>T, XM_017007393.1:c.779C>T, NM_177978.1:c.*549C>T, NM_177979.1:c.779C>T, XM_047449110.1:c.779C>T, XM_047449111.1:c.779C>T, NP_003732.2:p.Thr260Ile, NP_001291401.1:p.Thr260Ile, XP_016862877.1:p.Thr260Ile, XP_016862879.1:p.Thr260Ile, XP_011511556.1:p.Thr260Ile, XP_016862878.1:p.Thr260Ile, XP_016862880.1:p.Thr260Ile, XP_016862881.1:p.Thr260Ile, XP_016862882.1:p.Thr260Ile, XP_047305066.1:p.Thr260Ile, XP_047305067.1:p.Thr260Ile

      3.

      rs1488611802 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        3:184383111 (GRCh38)
        3:184100899 (GRCh37)
        Canonical SPDI:
        NC_000003.12:184383110:C:A
        Gene:
        CHRD (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.184383111C>A, NC_000003.11:g.184100899C>A, NG_029559.1:g.8039C>A, NM_003741.4:c.1161C>A, NM_003741.3:c.1161C>A, NM_003741.2:c.1161C>A, NR_130747.2:n.1328C>A, NR_130747.1:n.1565C>A, NM_001304473.2:c.51C>A, NM_001304473.1:c.51C>A, NM_001304474.2:c.51C>A, NM_001304474.1:c.51C>A, NM_001304472.2:c.1161C>A, NM_001304472.1:c.1161C>A, NG_012136.1:g.34G>T, XM_017007388.2:c.1242C>A, XM_017007388.1:c.1242C>A, XM_017007390.2:c.1242C>A, XM_017007390.1:c.1242C>A, XM_011513254.2:c.1161C>A, XM_011513254.1:c.1161C>A, XM_017007389.2:c.1242C>A, XM_017007389.1:c.1242C>A, XM_017007391.2:c.1242C>A, XM_017007391.1:c.1242C>A, XM_017007392.2:c.1161C>A, XM_017007392.1:c.1161C>A, XM_017007393.2:c.1242C>A, XM_017007393.1:c.1242C>A, NM_177978.1:c.*902C>A, NM_177979.1:c.*79C>A, XM_047449110.1:c.1242C>A, XM_047449111.1:c.1242C>A

        4.

        rs1488442407 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          3:184388588 (GRCh38)
          3:184106376 (GRCh37)
          Canonical SPDI:
          NC_000003.12:184388587:G:T
          Gene:
          CHRD (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1488186001 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            3:184382668 (GRCh38)
            3:184100456 (GRCh37)
            Canonical SPDI:
            NC_000003.12:184382667:C:G
            Gene:
            CHRD (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.184382668C>G, NC_000003.11:g.184100456C>G, NG_029559.1:g.7596C>G, NM_003741.4:c.876C>G, NM_003741.3:c.876C>G, NM_003741.2:c.876C>G, NR_130747.2:n.885C>G, NR_130747.1:n.1122C>G, NM_001304473.2:c.-206C>G, NM_001304473.1:c.-206C>G, NM_001304474.2:c.-206C>G, NM_001304474.1:c.-206C>G, NM_001304472.2:c.876C>G, NM_001304472.1:c.876C>G, NG_012136.1:g.477G>C, XM_017007388.2:c.876C>G, XM_017007388.1:c.876C>G, XM_017007390.2:c.876C>G, XM_017007390.1:c.876C>G, XM_011513254.2:c.876C>G, XM_011513254.1:c.876C>G, XM_017007389.2:c.876C>G, XM_017007389.1:c.876C>G, XM_017007391.2:c.876C>G, XM_017007391.1:c.876C>G, XM_017007392.2:c.876C>G, XM_017007392.1:c.876C>G, XM_017007393.2:c.876C>G, XM_017007393.1:c.876C>G, NM_177978.1:c.*646C>G, NM_177979.1:c.876C>G, XM_047449110.1:c.876C>G, XM_047449111.1:c.876C>G

            6.

            rs1488030307 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:184385066 (GRCh38)
              3:184102854 (GRCh37)
              Canonical SPDI:
              NC_000003.12:184385065:G:A
              Gene:
              CHRD (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000028/1 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.184385066G>A, NC_000003.11:g.184102854G>A, NG_029559.1:g.9994G>A, NM_003741.4:c.1646G>A, NM_003741.3:c.1646G>A, NM_003741.2:c.1646G>A, NR_130747.2:n.1813G>A, NR_130747.1:n.2050G>A, NM_001304473.2:c.536G>A, NM_001304473.1:c.536G>A, NM_001304474.2:c.536G>A, NM_001304474.1:c.536G>A, NM_001304472.2:c.1646G>A, NM_001304472.1:c.1646G>A, XM_017007388.2:c.1727G>A, XM_017007388.1:c.1727G>A, XM_017007390.2:c.1727G>A, XM_017007390.1:c.1727G>A, XM_011513254.2:c.1646G>A, XM_011513254.1:c.1646G>A, XM_017007389.2:c.1727G>A, XM_017007389.1:c.1727G>A, XM_017007391.2:c.1727G>A, XM_017007391.1:c.1727G>A, XM_017007392.2:c.1646G>A, XM_017007392.1:c.1646G>A, XM_017007393.2:c.1727G>A, XM_017007393.1:c.1727G>A, NM_177978.1:c.*1387G>A, NM_177979.1:c.*564G>A, XM_047449110.1:c.1727G>A, XM_047449111.1:c.1727G>A, NP_003732.2:p.Ser549Asn, NP_001291402.1:p.Ser179Asn, NP_001291403.1:p.Ser179Asn, NP_001291401.1:p.Ser549Asn, XP_016862877.1:p.Ser576Asn, XP_016862879.1:p.Ser576Asn, XP_011511556.1:p.Ser549Asn, XP_016862878.1:p.Ser576Asn, XP_016862880.1:p.Ser576Asn, XP_016862881.1:p.Ser549Asn, XP_016862882.1:p.Ser576Asn, XP_047305066.1:p.Ser576Asn, XP_047305067.1:p.Ser576Asn

              7.

              rs1487884566 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:184383119 (GRCh38)
                3:184100907 (GRCh37)
                Canonical SPDI:
                NC_000003.12:184383118:G:A
                Gene:
                CHRD (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000028/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000015/4 (TOPMED)
                A=0.000029/4 (GnomAD)
                HGVS:
                NC_000003.12:g.184383119G>A, NC_000003.11:g.184100907G>A, NG_029559.1:g.8047G>A, NM_003741.4:c.1169G>A, NM_003741.3:c.1169G>A, NM_003741.2:c.1169G>A, NR_130747.2:n.1336G>A, NR_130747.1:n.1573G>A, NM_001304473.2:c.59G>A, NM_001304473.1:c.59G>A, NM_001304474.2:c.59G>A, NM_001304474.1:c.59G>A, NM_001304472.2:c.1169G>A, NM_001304472.1:c.1169G>A, NG_012136.1:g.26C>T, XM_017007388.2:c.1250G>A, XM_017007388.1:c.1250G>A, XM_017007390.2:c.1250G>A, XM_017007390.1:c.1250G>A, XM_011513254.2:c.1169G>A, XM_011513254.1:c.1169G>A, XM_017007389.2:c.1250G>A, XM_017007389.1:c.1250G>A, XM_017007391.2:c.1250G>A, XM_017007391.1:c.1250G>A, XM_017007392.2:c.1169G>A, XM_017007392.1:c.1169G>A, XM_017007393.2:c.1250G>A, XM_017007393.1:c.1250G>A, NM_177978.1:c.*910G>A, NM_177979.1:c.*87G>A, XM_047449110.1:c.1250G>A, XM_047449111.1:c.1250G>A, NP_003732.2:p.Gly390Glu, NP_001291402.1:p.Gly20Glu, NP_001291403.1:p.Gly20Glu, NP_001291401.1:p.Gly390Glu, XP_016862877.1:p.Gly417Glu, XP_016862879.1:p.Gly417Glu, XP_011511556.1:p.Gly390Glu, XP_016862878.1:p.Gly417Glu, XP_016862880.1:p.Gly417Glu, XP_016862881.1:p.Gly390Glu, XP_016862882.1:p.Gly417Glu, XP_047305066.1:p.Gly417Glu, XP_047305067.1:p.Gly417Glu

                8.

                rs1487833549 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  3:184384628 (GRCh38)
                  3:184102416 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:184384627:C:G
                  Gene:
                  CHRD (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.184384628C>G, NC_000003.11:g.184102416C>G, NG_029559.1:g.9556C>G, NM_003741.4:c.1532C>G, NM_003741.3:c.1532C>G, NM_003741.2:c.1532C>G, NR_130747.2:n.1699C>G, NR_130747.1:n.1936C>G, NM_001304473.2:c.422C>G, NM_001304473.1:c.422C>G, NM_001304474.2:c.422C>G, NM_001304474.1:c.422C>G, NM_001304472.2:c.1532C>G, NM_001304472.1:c.1532C>G, XM_017007388.2:c.1613C>G, XM_017007388.1:c.1613C>G, XM_017007390.2:c.1613C>G, XM_017007390.1:c.1613C>G, XM_011513254.2:c.1532C>G, XM_011513254.1:c.1532C>G, XM_017007389.2:c.1613C>G, XM_017007389.1:c.1613C>G, XM_017007391.2:c.1613C>G, XM_017007391.1:c.1613C>G, XM_017007392.2:c.1532C>G, XM_017007392.1:c.1532C>G, XM_017007393.2:c.1613C>G, XM_017007393.1:c.1613C>G, NM_177978.1:c.*1273C>G, NM_177979.1:c.*450C>G, XM_047449110.1:c.1613C>G, XM_047449111.1:c.1613C>G, NP_003732.2:p.Pro511Arg, NP_001291402.1:p.Pro141Arg, NP_001291403.1:p.Pro141Arg, NP_001291401.1:p.Pro511Arg, XP_016862877.1:p.Pro538Arg, XP_016862879.1:p.Pro538Arg, XP_011511556.1:p.Pro511Arg, XP_016862878.1:p.Pro538Arg, XP_016862880.1:p.Pro538Arg, XP_016862881.1:p.Pro511Arg, XP_016862882.1:p.Pro538Arg, XP_047305066.1:p.Pro538Arg, XP_047305067.1:p.Pro538Arg

                  9.

                  rs1485789861 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAG>- [Show Flanks]
                    Chromosome:
                    3:184380436 (GRCh38)
                    3:184098224 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:184380433:AGAAG:AG
                    Gene:
                    THPO (Varview), CHRD (Varview)
                    Functional Consequence:
                    coding_sequence_variant,2KB_upstream_variant,inframe_deletion,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AG=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000015/2 (GnomAD)
                    HGVS:
                    NC_000003.12:g.184380436_184380438del, NC_000003.11:g.184098224_184098226del, NG_029559.1:g.5364_5366del, NM_003741.4:c.118_120del, NM_003741.3:c.118_120del, NM_003741.2:c.118_120del, NR_130747.2:n.127_129del, NR_130747.1:n.364_366del, NM_001304473.2:c.-1019_-1017del, NM_001304473.1:c.-1019_-1017del, NM_001304474.2:c.-964_-962del, NM_001304474.1:c.-964_-962del, NM_001304472.2:c.118_120del, NM_001304472.1:c.118_120del, NG_012136.1:g.2709_2711del, XM_017007388.2:c.118_120del, XM_017007388.1:c.118_120del, XM_017007390.2:c.118_120del, XM_017007390.1:c.118_120del, XM_011513254.2:c.118_120del, XM_011513254.1:c.118_120del, XM_017007389.2:c.118_120del, XM_017007389.1:c.118_120del, XM_017007391.2:c.118_120del, XM_017007391.1:c.118_120del, XM_017007392.2:c.118_120del, XM_017007392.1:c.118_120del, XM_017007393.2:c.118_120del, XM_017007393.1:c.118_120del, NM_177978.1:c.118_120del, NM_177979.1:c.118_120del, XM_047449110.1:c.118_120del, XM_047449111.1:c.118_120del, NP_003732.2:p.Lys40del, NP_001291401.1:p.Lys40del, XP_016862877.1:p.Lys40del, XP_016862879.1:p.Lys40del, XP_011511556.1:p.Lys40del, XP_016862878.1:p.Lys40del, XP_016862880.1:p.Lys40del, XP_016862881.1:p.Lys40del, XP_016862882.1:p.Lys40del, XP_047305066.1:p.Lys40del, XP_047305067.1:p.Lys40del

                    10.

                    rs1484131150 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      3:184383030 (GRCh38)
                      3:184100818 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:184383029:T:G
                      Gene:
                      CHRD (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.184383030T>G, NC_000003.11:g.184100818T>G, NG_029559.1:g.7958T>G, NM_003741.4:c.1080T>G, NM_003741.3:c.1080T>G, NM_003741.2:c.1080T>G, NR_130747.2:n.1247T>G, NR_130747.1:n.1484T>G, NM_001304473.2:c.-31T>G, NM_001304473.1:c.-31T>G, NM_001304474.2:c.-31T>G, NM_001304474.1:c.-31T>G, NM_001304472.2:c.1080T>G, NM_001304472.1:c.1080T>G, NG_012136.1:g.115A>C, XM_017007388.2:c.1161T>G, XM_017007388.1:c.1161T>G, XM_017007390.2:c.1161T>G, XM_017007390.1:c.1161T>G, XM_011513254.2:c.1080T>G, XM_011513254.1:c.1080T>G, XM_017007389.2:c.1161T>G, XM_017007389.1:c.1161T>G, XM_017007391.2:c.1161T>G, XM_017007391.1:c.1161T>G, XM_017007392.2:c.1080T>G, XM_017007392.1:c.1080T>G, XM_017007393.2:c.1161T>G, XM_017007393.1:c.1161T>G, NM_177978.1:c.*821T>G, NM_177979.1:c.1051T>G, XM_047449110.1:c.1161T>G, XM_047449111.1:c.1161T>G

                      11.

                      rs1483233327 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        3:184380385 (GRCh38)
                        3:184098173 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:184380384:C:A,NC_000003.12:184380384:C:T
                        Gene:
                        THPO (Varview), CHRD (Varview)
                        Functional Consequence:
                        coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.184380385C>A, NC_000003.12:g.184380385C>T, NC_000003.11:g.184098173C>A, NC_000003.11:g.184098173C>T, NG_029559.1:g.5313C>A, NG_029559.1:g.5313C>T, NM_003741.4:c.67C>A, NM_003741.4:c.67C>T, NM_003741.3:c.67C>A, NM_003741.3:c.67C>T, NM_003741.2:c.67C>A, NM_003741.2:c.67C>T, NR_130747.2:n.76C>A, NR_130747.2:n.76C>T, NR_130747.1:n.313C>A, NR_130747.1:n.313C>T, NM_001304473.2:c.-1070C>A, NM_001304473.2:c.-1070C>T, NM_001304473.1:c.-1070C>A, NM_001304473.1:c.-1070C>T, NM_001304474.2:c.-1015C>A, NM_001304474.2:c.-1015C>T, NM_001304474.1:c.-1015C>A, NM_001304474.1:c.-1015C>T, NM_001304472.2:c.67C>A, NM_001304472.2:c.67C>T, NM_001304472.1:c.67C>A, NM_001304472.1:c.67C>T, NG_012136.1:g.2760G>T, NG_012136.1:g.2760G>A, XM_017007388.2:c.67C>A, XM_017007388.2:c.67C>T, XM_017007388.1:c.67C>A, XM_017007388.1:c.67C>T, XM_017007390.2:c.67C>A, XM_017007390.2:c.67C>T, XM_017007390.1:c.67C>A, XM_017007390.1:c.67C>T, XM_011513254.2:c.67C>A, XM_011513254.2:c.67C>T, XM_011513254.1:c.67C>A, XM_011513254.1:c.67C>T, XM_017007389.2:c.67C>A, XM_017007389.2:c.67C>T, XM_017007389.1:c.67C>A, XM_017007389.1:c.67C>T, XM_017007391.2:c.67C>A, XM_017007391.2:c.67C>T, XM_017007391.1:c.67C>A, XM_017007391.1:c.67C>T, XM_017007392.2:c.67C>A, XM_017007392.2:c.67C>T, XM_017007392.1:c.67C>A, XM_017007392.1:c.67C>T, XM_017007393.2:c.67C>A, XM_017007393.2:c.67C>T, XM_017007393.1:c.67C>A, XM_017007393.1:c.67C>T, NM_177978.1:c.67C>A, NM_177978.1:c.67C>T, NM_177979.1:c.67C>A, NM_177979.1:c.67C>T, XM_047449110.1:c.67C>A, XM_047449110.1:c.67C>T, XM_047449111.1:c.67C>A, XM_047449111.1:c.67C>T, NP_003732.2:p.Pro23Thr, NP_003732.2:p.Pro23Ser, NP_001291401.1:p.Pro23Thr, NP_001291401.1:p.Pro23Ser, XP_016862877.1:p.Pro23Thr, XP_016862877.1:p.Pro23Ser, XP_016862879.1:p.Pro23Thr, XP_016862879.1:p.Pro23Ser, XP_011511556.1:p.Pro23Thr, XP_011511556.1:p.Pro23Ser, XP_016862878.1:p.Pro23Thr, XP_016862878.1:p.Pro23Ser, XP_016862880.1:p.Pro23Thr, XP_016862880.1:p.Pro23Ser, XP_016862881.1:p.Pro23Thr, XP_016862881.1:p.Pro23Ser, XP_016862882.1:p.Pro23Thr, XP_016862882.1:p.Pro23Ser, XP_047305066.1:p.Pro23Thr, XP_047305066.1:p.Pro23Ser, XP_047305067.1:p.Pro23Thr, XP_047305067.1:p.Pro23Ser

                        12.

                        rs1482148978 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:184388677 (GRCh38)
                          3:184106465 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:184388676:G:A
                          Gene:
                          CHRD (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000043/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000003.12:g.184388677G>A, NC_000003.11:g.184106465G>A, NG_029559.1:g.13605G>A, NM_003741.4:c.2645G>A, NM_003741.3:c.2645G>A, NM_003741.2:c.2645G>A, NR_130747.2:n.2708G>A, NR_130747.1:n.2945G>A, NM_001304473.2:c.1535G>A, NM_001304473.1:c.1535G>A, NM_001304474.2:c.1535G>A, NM_001304474.1:c.1535G>A, NM_001304472.2:c.2645G>A, NM_001304472.1:c.2645G>A, XM_017007388.2:c.2726G>A, XM_017007388.1:c.2726G>A, XM_017007390.2:c.2462G>A, XM_017007390.1:c.2462G>A, XM_011513254.2:c.2381G>A, XM_011513254.1:c.2381G>A, XM_017007389.2:c.2726G>A, XM_017007389.1:c.2726G>A, XM_017007391.2:c.2462G>A, XM_017007391.1:c.2462G>A, XM_017007392.2:c.2381G>A, XM_017007392.1:c.2381G>A, NM_177978.1:c.*2386G>A, NM_177979.1:c.*1563G>A, NP_003732.2:p.Ser882Asn, NP_001291402.1:p.Ser512Asn, NP_001291403.1:p.Ser512Asn, NP_001291401.1:p.Ser882Asn, XP_016862877.1:p.Ser909Asn, XP_016862879.1:p.Ser821Asn, XP_011511556.1:p.Ser794Asn, XP_016862878.1:p.Ser909Asn, XP_016862880.1:p.Ser821Asn, XP_016862881.1:p.Ser794Asn

                          13.

                          rs1481968249 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            3:184387961 (GRCh38)
                            3:184105749 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:184387960:G:A,NC_000003.12:184387960:G:T
                            Gene:
                            CHRD (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                            HGVS:
                            NC_000003.12:g.184387961G>A, NC_000003.12:g.184387961G>T, NC_000003.11:g.184105749G>A, NC_000003.11:g.184105749G>T, NG_029559.1:g.12889G>A, NG_029559.1:g.12889G>T, NM_003741.4:c.2482G>A, NM_003741.4:c.2482G>T, NM_003741.3:c.2482G>A, NM_003741.3:c.2482G>T, NM_003741.2:c.2482G>A, NM_003741.2:c.2482G>T, NR_130747.2:n.2545G>A, NR_130747.2:n.2545G>T, NR_130747.1:n.2782G>A, NR_130747.1:n.2782G>T, NM_001304473.2:c.1372G>A, NM_001304473.2:c.1372G>T, NM_001304473.1:c.1372G>A, NM_001304473.1:c.1372G>T, NM_001304474.2:c.1372G>A, NM_001304474.2:c.1372G>T, NM_001304474.1:c.1372G>A, NM_001304474.1:c.1372G>T, NM_001304472.2:c.2482G>A, NM_001304472.2:c.2482G>T, NM_001304472.1:c.2482G>A, NM_001304472.1:c.2482G>T, XM_017007388.2:c.2563G>A, XM_017007388.2:c.2563G>T, XM_017007388.1:c.2563G>A, XM_017007388.1:c.2563G>T, XM_017007390.2:c.2299G>A, XM_017007390.2:c.2299G>T, XM_017007390.1:c.2299G>A, XM_017007390.1:c.2299G>T, XM_011513254.2:c.2218G>A, XM_011513254.2:c.2218G>T, XM_011513254.1:c.2218G>A, XM_011513254.1:c.2218G>T, XM_017007389.2:c.2563G>A, XM_017007389.2:c.2563G>T, XM_017007389.1:c.2563G>A, XM_017007389.1:c.2563G>T, XM_017007391.2:c.2299G>A, XM_017007391.2:c.2299G>T, XM_017007391.1:c.2299G>A, XM_017007391.1:c.2299G>T, XM_017007392.2:c.2218G>A, XM_017007392.2:c.2218G>T, XM_017007392.1:c.2218G>A, XM_017007392.1:c.2218G>T, NM_177978.1:c.*2223G>A, NM_177978.1:c.*2223G>T, NM_177979.1:c.*1400G>A, NM_177979.1:c.*1400G>T, XM_047449110.1:c.*5G>A, XM_047449110.1:c.*5G>T, XM_047449111.1:c.*5G>A, XM_047449111.1:c.*5G>T, NP_003732.2:p.Val828Met, NP_003732.2:p.Val828Leu, NP_001291402.1:p.Val458Met, NP_001291402.1:p.Val458Leu, NP_001291403.1:p.Val458Met, NP_001291403.1:p.Val458Leu, NP_001291401.1:p.Val828Met, NP_001291401.1:p.Val828Leu, XP_016862877.1:p.Val855Met, XP_016862877.1:p.Val855Leu, XP_016862879.1:p.Val767Met, XP_016862879.1:p.Val767Leu, XP_011511556.1:p.Val740Met, XP_011511556.1:p.Val740Leu, XP_016862878.1:p.Val855Met, XP_016862878.1:p.Val855Leu, XP_016862880.1:p.Val767Met, XP_016862880.1:p.Val767Leu, XP_016862881.1:p.Val740Met, XP_016862881.1:p.Val740Leu

                            14.

                            rs1478791088 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:184387064 (GRCh38)
                              3:184104852 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:184387063:C:T
                              Gene:
                              CHRD (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1477794814 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                3:184381254 (GRCh38)
                                3:184099042 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:184381253:C:G
                                Gene:
                                THPO (Varview), CHRD (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_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_000003.12:g.184381254C>G, NC_000003.11:g.184099042C>G, NG_029559.1:g.6182C>G, NM_003741.4:c.272C>G, NM_003741.3:c.272C>G, NM_003741.2:c.272C>G, NR_130747.2:n.281C>G, NR_130747.1:n.518C>G, NM_001304473.2:c.-810C>G, NM_001304473.1:c.-810C>G, NM_001304474.2:c.-810C>G, NM_001304474.1:c.-810C>G, NM_001304472.2:c.272C>G, NM_001304472.1:c.272C>G, NG_012136.1:g.1891G>C, XM_017007388.2:c.272C>G, XM_017007388.1:c.272C>G, XM_017007390.2:c.272C>G, XM_017007390.1:c.272C>G, XM_011513254.2:c.272C>G, XM_011513254.1:c.272C>G, XM_017007389.2:c.272C>G, XM_017007389.1:c.272C>G, XM_017007391.2:c.272C>G, XM_017007391.1:c.272C>G, XM_017007392.2:c.272C>G, XM_017007392.1:c.272C>G, XM_017007393.2:c.272C>G, XM_017007393.1:c.272C>G, NM_177978.1:c.*42C>G, NM_177979.1:c.272C>G, XM_047449110.1:c.272C>G, XM_047449111.1:c.272C>G, NP_003732.2:p.Thr91Ser, NP_001291401.1:p.Thr91Ser, XP_016862877.1:p.Thr91Ser, XP_016862879.1:p.Thr91Ser, XP_011511556.1:p.Thr91Ser, XP_016862878.1:p.Thr91Ser, XP_016862880.1:p.Thr91Ser, XP_016862881.1:p.Thr91Ser, XP_016862882.1:p.Thr91Ser, XP_047305066.1:p.Thr91Ser, XP_047305067.1:p.Thr91Ser

                                16.

                                rs1477043058 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:184383371 (GRCh38)
                                  3:184101159 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:184383370:G:A
                                  Gene:
                                  CHRD (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_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)
                                  A=0.000008/2 (GnomAD_exomes)
                                  A=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000003.12:g.184383371G>A, NC_000003.11:g.184101159G>A, NG_029559.1:g.8299G>A, NM_003741.4:c.1273G>A, NM_003741.3:c.1273G>A, NM_003741.2:c.1273G>A, NR_130747.2:n.1440G>A, NR_130747.1:n.1677G>A, NM_001304473.2:c.163G>A, NM_001304473.1:c.163G>A, NM_001304474.2:c.163G>A, NM_001304474.1:c.163G>A, NM_001304472.2:c.1273G>A, NM_001304472.1:c.1273G>A, XM_017007388.2:c.1354G>A, XM_017007388.1:c.1354G>A, XM_017007390.2:c.1354G>A, XM_017007390.1:c.1354G>A, XM_011513254.2:c.1273G>A, XM_011513254.1:c.1273G>A, XM_017007389.2:c.1354G>A, XM_017007389.1:c.1354G>A, XM_017007391.2:c.1354G>A, XM_017007391.1:c.1354G>A, XM_017007392.2:c.1273G>A, XM_017007392.1:c.1273G>A, XM_017007393.2:c.1354G>A, XM_017007393.1:c.1354G>A, NM_177978.1:c.*1014G>A, NM_177979.1:c.*191G>A, XM_047449110.1:c.1354G>A, XM_047449111.1:c.1354G>A, NP_003732.2:p.Gly425Ser, NP_001291402.1:p.Gly55Ser, NP_001291403.1:p.Gly55Ser, NP_001291401.1:p.Gly425Ser, XP_016862877.1:p.Gly452Ser, XP_016862879.1:p.Gly452Ser, XP_011511556.1:p.Gly425Ser, XP_016862878.1:p.Gly452Ser, XP_016862880.1:p.Gly452Ser, XP_016862881.1:p.Gly425Ser, XP_016862882.1:p.Gly452Ser, XP_047305066.1:p.Gly452Ser, XP_047305067.1:p.Gly452Ser

                                  17.

                                  rs1476663696 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:184388974 (GRCh38)
                                    3:184106762 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:184388973:C:T
                                    Gene:
                                    CHRD (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 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.184388974C>T, NC_000003.11:g.184106762C>T, NG_029559.1:g.13902C>T, NM_003741.4:c.2791C>T, NM_003741.3:c.2791C>T, NM_003741.2:c.2791C>T, NR_130747.2:n.2854C>T, NR_130747.1:n.3091C>T, NM_001304473.2:c.1681C>T, NM_001304473.1:c.1681C>T, NM_001304474.2:c.1681C>T, NM_001304474.1:c.1681C>T, NM_001304472.2:c.2791C>T, NM_001304472.1:c.2791C>T, XM_017007388.2:c.2872C>T, XM_017007388.1:c.2872C>T, XM_017007390.2:c.2608C>T, XM_017007390.1:c.2608C>T, XM_011513254.2:c.2527C>T, XM_011513254.1:c.2527C>T, XM_017007389.2:c.2872C>T, XM_017007389.1:c.2872C>T, XM_017007391.2:c.2608C>T, XM_017007391.1:c.2608C>T, XM_017007392.2:c.2527C>T, XM_017007392.1:c.2527C>T, NM_177978.1:c.*2532C>T, NM_177979.1:c.*1709C>T, NP_003732.2:p.Arg931Cys, NP_001291402.1:p.Arg561Cys, NP_001291403.1:p.Arg561Cys, NP_001291401.1:p.Arg931Cys, XP_016862877.1:p.Arg958Cys, XP_016862879.1:p.Arg870Cys, XP_011511556.1:p.Arg843Cys, XP_016862878.1:p.Arg958Cys, XP_016862880.1:p.Arg870Cys, XP_016862881.1:p.Arg843Cys

                                    18.

                                    rs1476535998 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:184380420 (GRCh38)
                                      3:184098208 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:184380419:G:A
                                      Gene:
                                      THPO (Varview), CHRD (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000003.12:g.184380420G>A, NC_000003.11:g.184098208G>A, NG_029559.1:g.5348G>A, NM_003741.4:c.102G>A, NM_003741.3:c.102G>A, NM_003741.2:c.102G>A, NR_130747.2:n.111G>A, NR_130747.1:n.348G>A, NM_001304473.2:c.-1035G>A, NM_001304473.1:c.-1035G>A, NM_001304474.2:c.-980G>A, NM_001304474.1:c.-980G>A, NM_001304472.2:c.102G>A, NM_001304472.1:c.102G>A, NG_012136.1:g.2725C>T, XM_017007388.2:c.102G>A, XM_017007388.1:c.102G>A, XM_017007390.2:c.102G>A, XM_017007390.1:c.102G>A, XM_011513254.2:c.102G>A, XM_011513254.1:c.102G>A, XM_017007389.2:c.102G>A, XM_017007389.1:c.102G>A, XM_017007391.2:c.102G>A, XM_017007391.1:c.102G>A, XM_017007392.2:c.102G>A, XM_017007392.1:c.102G>A, XM_017007393.2:c.102G>A, XM_017007393.1:c.102G>A, NM_177978.1:c.102G>A, NM_177979.1:c.102G>A, XM_047449110.1:c.102G>A, XM_047449111.1:c.102G>A

                                      19.

                                      rs1475546928 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:184386528 (GRCh38)
                                        3:184104316 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:184386527:C:T
                                        Gene:
                                        CHRD (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1473960737 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          3:184384594 (GRCh38)
                                          3:184102382 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:184384593:G:C
                                          Gene:
                                          CHRD (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.184384594G>C, NC_000003.11:g.184102382G>C, NG_029559.1:g.9522G>C, NM_003741.4:c.1498G>C, NM_003741.3:c.1498G>C, NM_003741.2:c.1498G>C, NR_130747.2:n.1665G>C, NR_130747.1:n.1902G>C, NM_001304473.2:c.388G>C, NM_001304473.1:c.388G>C, NM_001304474.2:c.388G>C, NM_001304474.1:c.388G>C, NM_001304472.2:c.1498G>C, NM_001304472.1:c.1498G>C, XM_017007388.2:c.1579G>C, XM_017007388.1:c.1579G>C, XM_017007390.2:c.1579G>C, XM_017007390.1:c.1579G>C, XM_011513254.2:c.1498G>C, XM_011513254.1:c.1498G>C, XM_017007389.2:c.1579G>C, XM_017007389.1:c.1579G>C, XM_017007391.2:c.1579G>C, XM_017007391.1:c.1579G>C, XM_017007392.2:c.1498G>C, XM_017007392.1:c.1498G>C, XM_017007393.2:c.1579G>C, XM_017007393.1:c.1579G>C, NM_177978.1:c.*1239G>C, NM_177979.1:c.*416G>C, XM_047449110.1:c.1579G>C, XM_047449111.1:c.1579G>C, NP_003732.2:p.Glu500Gln, NP_001291402.1:p.Glu130Gln, NP_001291403.1:p.Glu130Gln, NP_001291401.1:p.Glu500Gln, XP_016862877.1:p.Glu527Gln, XP_016862879.1:p.Glu527Gln, XP_011511556.1:p.Glu500Gln, XP_016862878.1:p.Glu527Gln, XP_016862880.1:p.Glu527Gln, XP_016862881.1:p.Glu500Gln, XP_016862882.1:p.Glu527Gln, XP_047305066.1:p.Glu527Gln, XP_047305067.1:p.Glu527Gln

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