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Items: 1 to 20 of 364

1.

rs1488683611 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    21:21324465 (GRCh38)
    21:22696785 (GRCh37)
    Canonical SPDI:
    NC_000021.9:21324464:C:T
    Gene:
    NCAM2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000111/1 (ALFA)
    T=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000021.9:g.21324465C>T, NC_000021.8:g.22696785C>T, NM_004540.5:c.702C>T, NM_004540.4:c.702C>T, NM_004540.3:c.702C>T, XM_011529575.4:c.777C>T, XM_011529575.3:c.777C>T, XM_011529575.2:c.777C>T, XM_011529575.1:c.777C>T, XM_011529581.4:c.777C>T, XM_011529581.3:c.777C>T, XM_011529581.2:c.777C>T, XM_011529581.1:c.777C>T, XM_011529580.4:c.777C>T, XM_011529580.3:c.777C>T, XM_011529580.2:c.777C>T, XM_011529580.1:c.777C>T, XM_011529582.4:c.777C>T, XM_011529582.3:c.777C>T, XM_011529582.2:c.777C>T, XM_011529582.1:c.777C>T, XM_017028356.3:c.210C>T, XM_017028356.2:c.210C>T, XM_017028356.1:c.210C>T, XM_011529585.3:c.210C>T, XM_011529585.2:c.210C>T, XM_011529585.1:c.210C>T, NM_001352592.2:c.777C>T, NM_001352592.1:c.777C>T, NM_001352591.2:c.702C>T, NM_001352591.1:c.702C>T, NM_001352595.2:c.276C>T, NM_001352595.1:c.276C>T, XM_024452081.2:c.702C>T, XM_024452081.1:c.702C>T, NM_001352593.2:c.702C>T, NM_001352593.1:c.702C>T, NM_001352594.2:c.702C>T, NM_001352594.1:c.702C>T, NM_001352596.2:c.702C>T, NM_001352596.1:c.702C>T, NM_001352597.2:c.777C>T, NM_001352597.1:c.777C>T, XM_047440784.1:c.777C>T, XM_047440785.1:c.702C>T

    2.

    rs1486306849 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      21:21373928 (GRCh38)
      21:22746248 (GRCh37)
      Canonical SPDI:
      NC_000021.9:21373927:G:A
      Gene:
      NCAM2 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000021.9:g.21373928G>A, NC_000021.8:g.22746248G>A, NM_004540.5:c.1110G>A, NM_004540.4:c.1110G>A, NM_004540.3:c.1110G>A, XM_011529575.4:c.1185G>A, XM_011529575.3:c.1185G>A, XM_011529575.2:c.1185G>A, XM_011529575.1:c.1185G>A, XM_011529581.4:c.1185G>A, XM_011529581.3:c.1185G>A, XM_011529581.2:c.1185G>A, XM_011529581.1:c.1185G>A, XM_011529580.4:c.1185G>A, XM_011529580.3:c.1185G>A, XM_011529580.2:c.1185G>A, XM_011529580.1:c.1185G>A, XM_011529582.4:c.1185G>A, XM_011529582.3:c.1185G>A, XM_011529582.2:c.1185G>A, XM_011529582.1:c.1185G>A, XM_017028356.3:c.618G>A, XM_017028356.2:c.618G>A, XM_017028356.1:c.618G>A, XM_011529585.3:c.618G>A, XM_011529585.2:c.618G>A, XM_011529585.1:c.618G>A, NM_001352592.2:c.1185G>A, NM_001352592.1:c.1185G>A, NM_001352591.2:c.1110G>A, NM_001352591.1:c.1110G>A, NM_001352595.2:c.684G>A, NM_001352595.1:c.684G>A, XM_024452081.2:c.1110G>A, XM_024452081.1:c.1110G>A, NM_001352593.2:c.1110G>A, NM_001352593.1:c.1110G>A, NM_001352594.2:c.1110G>A, NM_001352594.1:c.1110G>A, NM_001352596.2:c.1110G>A, NM_001352596.1:c.1110G>A, NM_001352597.2:c.1185G>A, NM_001352597.1:c.1185G>A, XM_047440784.1:c.1185G>A, XM_047440785.1:c.1110G>A

      3.

      rs1484821199 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        21:21324462 (GRCh38)
        21:22696782 (GRCh37)
        Canonical SPDI:
        NC_000021.9:21324461:G:C
        Gene:
        NCAM2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000021.9:g.21324462G>C, NC_000021.8:g.22696782G>C, NM_004540.5:c.699G>C, NM_004540.4:c.699G>C, NM_004540.3:c.699G>C, XM_011529575.4:c.774G>C, XM_011529575.3:c.774G>C, XM_011529575.2:c.774G>C, XM_011529575.1:c.774G>C, XM_011529581.4:c.774G>C, XM_011529581.3:c.774G>C, XM_011529581.2:c.774G>C, XM_011529581.1:c.774G>C, XM_011529580.4:c.774G>C, XM_011529580.3:c.774G>C, XM_011529580.2:c.774G>C, XM_011529580.1:c.774G>C, XM_011529582.4:c.774G>C, XM_011529582.3:c.774G>C, XM_011529582.2:c.774G>C, XM_011529582.1:c.774G>C, XM_017028356.3:c.207G>C, XM_017028356.2:c.207G>C, XM_017028356.1:c.207G>C, XM_011529585.3:c.207G>C, XM_011529585.2:c.207G>C, XM_011529585.1:c.207G>C, NM_001352592.2:c.774G>C, NM_001352592.1:c.774G>C, NM_001352591.2:c.699G>C, NM_001352591.1:c.699G>C, NM_001352595.2:c.273G>C, NM_001352595.1:c.273G>C, XM_024452081.2:c.699G>C, XM_024452081.1:c.699G>C, NM_001352593.2:c.699G>C, NM_001352593.1:c.699G>C, NM_001352594.2:c.699G>C, NM_001352594.1:c.699G>C, NM_001352596.2:c.699G>C, NM_001352596.1:c.699G>C, NM_001352597.2:c.774G>C, NM_001352597.1:c.774G>C, XM_047440784.1:c.774G>C, XM_047440785.1:c.699G>C, NP_004531.2:p.Arg233Ser, XP_011527877.1:p.Arg258Ser, XP_011527883.1:p.Arg258Ser, XP_011527882.1:p.Arg258Ser, XP_011527884.1:p.Arg258Ser, XP_016883845.1:p.Arg69Ser, XP_011527887.1:p.Arg69Ser, NP_001339521.1:p.Arg258Ser, NP_001339520.1:p.Arg233Ser, NP_001339524.1:p.Arg91Ser, XP_024307849.1:p.Arg233Ser, NP_001339522.1:p.Arg233Ser, NP_001339523.1:p.Arg233Ser, NP_001339525.1:p.Arg233Ser, NP_001339526.1:p.Arg258Ser, XP_047296740.1:p.Arg258Ser, XP_047296741.1:p.Arg233Ser

        4.

        rs1483880093 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          21:21335588 (GRCh38)
          21:22707908 (GRCh37)
          Canonical SPDI:
          NC_000021.9:21335587:G:A
          Gene:
          NCAM2 (Varview)
          Functional Consequence:
          missense_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=0.000035/1 (TOMMO)
          HGVS:
          NC_000021.9:g.21335588G>A, NC_000021.8:g.22707908G>A, NM_004540.5:c.821G>A, NM_004540.4:c.821G>A, NM_004540.3:c.821G>A, XM_011529575.4:c.896G>A, XM_011529575.3:c.896G>A, XM_011529575.2:c.896G>A, XM_011529575.1:c.896G>A, XM_011529581.4:c.896G>A, XM_011529581.3:c.896G>A, XM_011529581.2:c.896G>A, XM_011529581.1:c.896G>A, XM_011529580.4:c.896G>A, XM_011529580.3:c.896G>A, XM_011529580.2:c.896G>A, XM_011529580.1:c.896G>A, XM_011529582.4:c.896G>A, XM_011529582.3:c.896G>A, XM_011529582.2:c.896G>A, XM_011529582.1:c.896G>A, XM_017028356.3:c.329G>A, XM_017028356.2:c.329G>A, XM_017028356.1:c.329G>A, XM_011529585.3:c.329G>A, XM_011529585.2:c.329G>A, XM_011529585.1:c.329G>A, NM_001352592.2:c.896G>A, NM_001352592.1:c.896G>A, NM_001352591.2:c.821G>A, NM_001352591.1:c.821G>A, NM_001352595.2:c.395G>A, NM_001352595.1:c.395G>A, XM_024452081.2:c.821G>A, XM_024452081.1:c.821G>A, NM_001352593.2:c.821G>A, NM_001352593.1:c.821G>A, NM_001352594.2:c.821G>A, NM_001352594.1:c.821G>A, NM_001352596.2:c.821G>A, NM_001352596.1:c.821G>A, NM_001352597.2:c.896G>A, NM_001352597.1:c.896G>A, XM_047440784.1:c.896G>A, XM_047440785.1:c.821G>A, NP_004531.2:p.Ser274Asn, XP_011527877.1:p.Ser299Asn, XP_011527883.1:p.Ser299Asn, XP_011527882.1:p.Ser299Asn, XP_011527884.1:p.Ser299Asn, XP_016883845.1:p.Ser110Asn, XP_011527887.1:p.Ser110Asn, NP_001339521.1:p.Ser299Asn, NP_001339520.1:p.Ser274Asn, NP_001339524.1:p.Ser132Asn, XP_024307849.1:p.Ser274Asn, NP_001339522.1:p.Ser274Asn, NP_001339523.1:p.Ser274Asn, NP_001339525.1:p.Ser274Asn, NP_001339526.1:p.Ser299Asn, XP_047296740.1:p.Ser299Asn, XP_047296741.1:p.Ser274Asn

          5.

          rs1479757904 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            21:21210684 (GRCh38)
            21:22583003 (GRCh37)
            Canonical SPDI:
            NC_000021.9:21210683:C:T
            Gene:
            NCAM2 (Varview)
            Functional Consequence:
            synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/1 (GnomAD_exomes)
            T=0.000015/4 (TOPMED)
            T=0.000029/4 (GnomAD)
            HGVS:

            6.

            rs1478826270 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              21:21292111 (GRCh38)
              21:22664431 (GRCh37)
              Canonical SPDI:
              NC_000021.9:21292110:C:T
              Gene:
              NCAM2 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000023/6 (TOPMED)
              C=0.5/1 (SGDP_PRJ)
              HGVS:
              NC_000021.9:g.21292111C>T, NC_000021.8:g.22664431C>T, NM_004540.5:c.489C>T, NM_004540.4:c.489C>T, NM_004540.3:c.489C>T, XM_011529575.4:c.564C>T, XM_011529575.3:c.564C>T, XM_011529575.2:c.564C>T, XM_011529575.1:c.564C>T, XM_011529581.4:c.564C>T, XM_011529581.3:c.564C>T, XM_011529581.2:c.564C>T, XM_011529581.1:c.564C>T, XM_011529580.4:c.564C>T, XM_011529580.3:c.564C>T, XM_011529580.2:c.564C>T, XM_011529580.1:c.564C>T, XM_011529582.4:c.564C>T, XM_011529582.3:c.564C>T, XM_011529582.2:c.564C>T, XM_011529582.1:c.564C>T, XM_017028356.3:c.-4C>T, XM_017028356.2:c.-4C>T, XM_017028356.1:c.-4C>T, XM_011529585.3:c.-4C>T, XM_011529585.2:c.-4C>T, XM_011529585.1:c.-4C>T, NM_001352592.2:c.564C>T, NM_001352592.1:c.564C>T, NM_001352591.2:c.489C>T, NM_001352591.1:c.489C>T, NM_001352595.2:c.63C>T, NM_001352595.1:c.63C>T, XM_024452081.2:c.489C>T, XM_024452081.1:c.489C>T, NM_001352593.2:c.489C>T, NM_001352593.1:c.489C>T, NM_001352594.2:c.489C>T, NM_001352594.1:c.489C>T, NM_001352596.2:c.489C>T, NM_001352596.1:c.489C>T, NM_001352597.2:c.564C>T, NM_001352597.1:c.564C>T, XM_047440784.1:c.564C>T, XM_047440785.1:c.489C>T

              7.

              rs1477282206 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                21:21335600 (GRCh38)
                21:22707920 (GRCh37)
                Canonical SPDI:
                NC_000021.9:21335599:C:G
                Gene:
                NCAM2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000021.9:g.21335600C>G, NC_000021.8:g.22707920C>G, NM_004540.5:c.833C>G, NM_004540.4:c.833C>G, NM_004540.3:c.833C>G, XM_011529575.4:c.908C>G, XM_011529575.3:c.908C>G, XM_011529575.2:c.908C>G, XM_011529575.1:c.908C>G, XM_011529581.4:c.908C>G, XM_011529581.3:c.908C>G, XM_011529581.2:c.908C>G, XM_011529581.1:c.908C>G, XM_011529580.4:c.908C>G, XM_011529580.3:c.908C>G, XM_011529580.2:c.908C>G, XM_011529580.1:c.908C>G, XM_011529582.4:c.908C>G, XM_011529582.3:c.908C>G, XM_011529582.2:c.908C>G, XM_011529582.1:c.908C>G, XM_017028356.3:c.341C>G, XM_017028356.2:c.341C>G, XM_017028356.1:c.341C>G, XM_011529585.3:c.341C>G, XM_011529585.2:c.341C>G, XM_011529585.1:c.341C>G, NM_001352592.2:c.908C>G, NM_001352592.1:c.908C>G, NM_001352591.2:c.833C>G, NM_001352591.1:c.833C>G, NM_001352595.2:c.407C>G, NM_001352595.1:c.407C>G, XM_024452081.2:c.833C>G, XM_024452081.1:c.833C>G, NM_001352593.2:c.833C>G, NM_001352593.1:c.833C>G, NM_001352594.2:c.833C>G, NM_001352594.1:c.833C>G, NM_001352596.2:c.833C>G, NM_001352596.1:c.833C>G, NM_001352597.2:c.908C>G, NM_001352597.1:c.908C>G, XM_047440784.1:c.908C>G, XM_047440785.1:c.833C>G, NP_004531.2:p.Pro278Arg, XP_011527877.1:p.Pro303Arg, XP_011527883.1:p.Pro303Arg, XP_011527882.1:p.Pro303Arg, XP_011527884.1:p.Pro303Arg, XP_016883845.1:p.Pro114Arg, XP_011527887.1:p.Pro114Arg, NP_001339521.1:p.Pro303Arg, NP_001339520.1:p.Pro278Arg, NP_001339524.1:p.Pro136Arg, XP_024307849.1:p.Pro278Arg, NP_001339522.1:p.Pro278Arg, NP_001339523.1:p.Pro278Arg, NP_001339525.1:p.Pro278Arg, NP_001339526.1:p.Pro303Arg, XP_047296740.1:p.Pro303Arg, XP_047296741.1:p.Pro278Arg

                8.

                rs1476132718 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  21:21210682 (GRCh38)
                  21:22583001 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:21210681:T:C
                  Gene:
                  NCAM2 (Varview)
                  Functional Consequence:
                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1475333232 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    21:21210578 (GRCh38)
                    21:22582897 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:21210577:C:G
                    Gene:
                    NCAM2 (Varview)
                    Functional Consequence:
                    stop_gained,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                    HGVS:

                    10.

                    rs1470769946 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      21:21210603 (GRCh38)
                      21:22582922 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:21210602:T:C
                      Gene:
                      NCAM2 (Varview)
                      Functional Consequence:
                      synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000094/1 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000023/3 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1470626957 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        21:21284361 (GRCh38)
                        21:22656681 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:21284360:G:C
                        Gene:
                        NCAM2 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000021.9:g.21284361G>C, NC_000021.8:g.22656681G>C, NM_004540.5:c.298G>C, NM_004540.4:c.298G>C, NM_004540.3:c.298G>C, XM_011529575.4:c.373G>C, XM_011529575.3:c.373G>C, XM_011529575.2:c.373G>C, XM_011529575.1:c.373G>C, XM_011529581.4:c.373G>C, XM_011529581.3:c.373G>C, XM_011529581.2:c.373G>C, XM_011529581.1:c.373G>C, XM_011529580.4:c.373G>C, XM_011529580.3:c.373G>C, XM_011529580.2:c.373G>C, XM_011529580.1:c.373G>C, XM_011529582.4:c.373G>C, XM_011529582.3:c.373G>C, XM_011529582.2:c.373G>C, XM_011529582.1:c.373G>C, NM_001352592.2:c.373G>C, NM_001352592.1:c.373G>C, NM_001352591.2:c.298G>C, NM_001352591.1:c.298G>C, XM_024452081.2:c.298G>C, XM_024452081.1:c.298G>C, NM_001352593.2:c.298G>C, NM_001352593.1:c.298G>C, NM_001352594.2:c.298G>C, NM_001352594.1:c.298G>C, NM_001352596.2:c.298G>C, NM_001352596.1:c.298G>C, NM_001352597.2:c.373G>C, NM_001352597.1:c.373G>C, XM_047440784.1:c.373G>C, XM_047440785.1:c.298G>C, NP_004531.2:p.Gly100Arg, XP_011527877.1:p.Gly125Arg, XP_011527883.1:p.Gly125Arg, XP_011527882.1:p.Gly125Arg, XP_011527884.1:p.Gly125Arg, NP_001339521.1:p.Gly125Arg, NP_001339520.1:p.Gly100Arg, XP_024307849.1:p.Gly100Arg, NP_001339522.1:p.Gly100Arg, NP_001339523.1:p.Gly100Arg, NP_001339525.1:p.Gly100Arg, NP_001339526.1:p.Gly125Arg, XP_047296740.1:p.Gly125Arg, XP_047296741.1:p.Gly100Arg

                        12.

                        rs1467813246 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          21:21210593 (GRCh38)
                          21:22582912 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:21210592:A:G
                          Gene:
                          NCAM2 (Varview)
                          Functional Consequence:
                          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000008/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1465894306 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            21:21324398 (GRCh38)
                            21:22696718 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:21324397:C:T
                            Gene:
                            NCAM2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000021.9:g.21324398C>T, NC_000021.8:g.22696718C>T, NM_004540.5:c.635C>T, NM_004540.4:c.635C>T, NM_004540.3:c.635C>T, XM_011529575.4:c.710C>T, XM_011529575.3:c.710C>T, XM_011529575.2:c.710C>T, XM_011529575.1:c.710C>T, XM_011529581.4:c.710C>T, XM_011529581.3:c.710C>T, XM_011529581.2:c.710C>T, XM_011529581.1:c.710C>T, XM_011529580.4:c.710C>T, XM_011529580.3:c.710C>T, XM_011529580.2:c.710C>T, XM_011529580.1:c.710C>T, XM_011529582.4:c.710C>T, XM_011529582.3:c.710C>T, XM_011529582.2:c.710C>T, XM_011529582.1:c.710C>T, XM_017028356.3:c.143C>T, XM_017028356.2:c.143C>T, XM_017028356.1:c.143C>T, XM_011529585.3:c.143C>T, XM_011529585.2:c.143C>T, XM_011529585.1:c.143C>T, NM_001352592.2:c.710C>T, NM_001352592.1:c.710C>T, NM_001352591.2:c.635C>T, NM_001352591.1:c.635C>T, NM_001352595.2:c.209C>T, NM_001352595.1:c.209C>T, XM_024452081.2:c.635C>T, XM_024452081.1:c.635C>T, NM_001352593.2:c.635C>T, NM_001352593.1:c.635C>T, NM_001352594.2:c.635C>T, NM_001352594.1:c.635C>T, NM_001352596.2:c.635C>T, NM_001352596.1:c.635C>T, NM_001352597.2:c.710C>T, NM_001352597.1:c.710C>T, XM_047440784.1:c.710C>T, XM_047440785.1:c.635C>T, NP_004531.2:p.Ser212Leu, XP_011527877.1:p.Ser237Leu, XP_011527883.1:p.Ser237Leu, XP_011527882.1:p.Ser237Leu, XP_011527884.1:p.Ser237Leu, XP_016883845.1:p.Ser48Leu, XP_011527887.1:p.Ser48Leu, NP_001339521.1:p.Ser237Leu, NP_001339520.1:p.Ser212Leu, NP_001339524.1:p.Ser70Leu, XP_024307849.1:p.Ser212Leu, NP_001339522.1:p.Ser212Leu, NP_001339523.1:p.Ser212Leu, NP_001339525.1:p.Ser212Leu, NP_001339526.1:p.Ser237Leu, XP_047296740.1:p.Ser237Leu, XP_047296741.1:p.Ser212Leu

                            14.

                            rs1463361878 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              21:21373869 (GRCh38)
                              21:22746189 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:21373868:G:A,NC_000021.9:21373868:G:T
                              Gene:
                              NCAM2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000021.9:g.21373869G>A, NC_000021.9:g.21373869G>T, NC_000021.8:g.22746189G>A, NC_000021.8:g.22746189G>T, NM_004540.5:c.1051G>A, NM_004540.5:c.1051G>T, NM_004540.4:c.1051G>A, NM_004540.4:c.1051G>T, NM_004540.3:c.1051G>A, NM_004540.3:c.1051G>T, XM_011529575.4:c.1126G>A, XM_011529575.4:c.1126G>T, XM_011529575.3:c.1126G>A, XM_011529575.3:c.1126G>T, XM_011529575.2:c.1126G>A, XM_011529575.2:c.1126G>T, XM_011529575.1:c.1126G>A, XM_011529575.1:c.1126G>T, XM_011529581.4:c.1126G>A, XM_011529581.4:c.1126G>T, XM_011529581.3:c.1126G>A, XM_011529581.3:c.1126G>T, XM_011529581.2:c.1126G>A, XM_011529581.2:c.1126G>T, XM_011529581.1:c.1126G>A, XM_011529581.1:c.1126G>T, XM_011529580.4:c.1126G>A, XM_011529580.4:c.1126G>T, XM_011529580.3:c.1126G>A, XM_011529580.3:c.1126G>T, XM_011529580.2:c.1126G>A, XM_011529580.2:c.1126G>T, XM_011529580.1:c.1126G>A, XM_011529580.1:c.1126G>T, XM_011529582.4:c.1126G>A, XM_011529582.4:c.1126G>T, XM_011529582.3:c.1126G>A, XM_011529582.3:c.1126G>T, XM_011529582.2:c.1126G>A, XM_011529582.2:c.1126G>T, XM_011529582.1:c.1126G>A, XM_011529582.1:c.1126G>T, XM_017028356.3:c.559G>A, XM_017028356.3:c.559G>T, XM_017028356.2:c.559G>A, XM_017028356.2:c.559G>T, XM_017028356.1:c.559G>A, XM_017028356.1:c.559G>T, XM_011529585.3:c.559G>A, XM_011529585.3:c.559G>T, XM_011529585.2:c.559G>A, XM_011529585.2:c.559G>T, XM_011529585.1:c.559G>A, XM_011529585.1:c.559G>T, NM_001352592.2:c.1126G>A, NM_001352592.2:c.1126G>T, NM_001352592.1:c.1126G>A, NM_001352592.1:c.1126G>T, NM_001352591.2:c.1051G>A, NM_001352591.2:c.1051G>T, NM_001352591.1:c.1051G>A, NM_001352591.1:c.1051G>T, NM_001352595.2:c.625G>A, NM_001352595.2:c.625G>T, NM_001352595.1:c.625G>A, NM_001352595.1:c.625G>T, XM_024452081.2:c.1051G>A, XM_024452081.2:c.1051G>T, XM_024452081.1:c.1051G>A, XM_024452081.1:c.1051G>T, NM_001352593.2:c.1051G>A, NM_001352593.2:c.1051G>T, NM_001352593.1:c.1051G>A, NM_001352593.1:c.1051G>T, NM_001352594.2:c.1051G>A, NM_001352594.2:c.1051G>T, NM_001352594.1:c.1051G>A, NM_001352594.1:c.1051G>T, NM_001352596.2:c.1051G>A, NM_001352596.2:c.1051G>T, NM_001352596.1:c.1051G>A, NM_001352596.1:c.1051G>T, NM_001352597.2:c.1126G>A, NM_001352597.2:c.1126G>T, NM_001352597.1:c.1126G>A, NM_001352597.1:c.1126G>T, XM_047440784.1:c.1126G>A, XM_047440784.1:c.1126G>T, XM_047440785.1:c.1051G>A, XM_047440785.1:c.1051G>T, NP_004531.2:p.Asp351Asn, NP_004531.2:p.Asp351Tyr, XP_011527877.1:p.Asp376Asn, XP_011527877.1:p.Asp376Tyr, XP_011527883.1:p.Asp376Asn, XP_011527883.1:p.Asp376Tyr, XP_011527882.1:p.Asp376Asn, XP_011527882.1:p.Asp376Tyr, XP_011527884.1:p.Asp376Asn, XP_011527884.1:p.Asp376Tyr, XP_016883845.1:p.Asp187Asn, XP_016883845.1:p.Asp187Tyr, XP_011527887.1:p.Asp187Asn, XP_011527887.1:p.Asp187Tyr, NP_001339521.1:p.Asp376Asn, NP_001339521.1:p.Asp376Tyr, NP_001339520.1:p.Asp351Asn, NP_001339520.1:p.Asp351Tyr, NP_001339524.1:p.Asp209Asn, NP_001339524.1:p.Asp209Tyr, XP_024307849.1:p.Asp351Asn, XP_024307849.1:p.Asp351Tyr, NP_001339522.1:p.Asp351Asn, NP_001339522.1:p.Asp351Tyr, NP_001339523.1:p.Asp351Asn, NP_001339523.1:p.Asp351Tyr, NP_001339525.1:p.Asp351Asn, NP_001339525.1:p.Asp351Tyr, NP_001339526.1:p.Asp376Asn, NP_001339526.1:p.Asp376Tyr, XP_047296740.1:p.Asp376Asn, XP_047296740.1:p.Asp376Tyr, XP_047296741.1:p.Asp351Asn, XP_047296741.1:p.Asp351Tyr

                              15.

                              rs1459403311 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                21:21335573 (GRCh38)
                                21:22707893 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:21335572:G:T
                                Gene:
                                NCAM2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000021.9:g.21335573G>T, NC_000021.8:g.22707893G>T, NM_004540.5:c.806G>T, NM_004540.4:c.806G>T, NM_004540.3:c.806G>T, XM_011529575.4:c.881G>T, XM_011529575.3:c.881G>T, XM_011529575.2:c.881G>T, XM_011529575.1:c.881G>T, XM_011529581.4:c.881G>T, XM_011529581.3:c.881G>T, XM_011529581.2:c.881G>T, XM_011529581.1:c.881G>T, XM_011529580.4:c.881G>T, XM_011529580.3:c.881G>T, XM_011529580.2:c.881G>T, XM_011529580.1:c.881G>T, XM_011529582.4:c.881G>T, XM_011529582.3:c.881G>T, XM_011529582.2:c.881G>T, XM_011529582.1:c.881G>T, XM_017028356.3:c.314G>T, XM_017028356.2:c.314G>T, XM_017028356.1:c.314G>T, XM_011529585.3:c.314G>T, XM_011529585.2:c.314G>T, XM_011529585.1:c.314G>T, NM_001352592.2:c.881G>T, NM_001352592.1:c.881G>T, NM_001352591.2:c.806G>T, NM_001352591.1:c.806G>T, NM_001352595.2:c.380G>T, NM_001352595.1:c.380G>T, XM_024452081.2:c.806G>T, XM_024452081.1:c.806G>T, NM_001352593.2:c.806G>T, NM_001352593.1:c.806G>T, NM_001352594.2:c.806G>T, NM_001352594.1:c.806G>T, NM_001352596.2:c.806G>T, NM_001352596.1:c.806G>T, NM_001352597.2:c.881G>T, NM_001352597.1:c.881G>T, XM_047440784.1:c.881G>T, XM_047440785.1:c.806G>T, NP_004531.2:p.Arg269Met, XP_011527877.1:p.Arg294Met, XP_011527883.1:p.Arg294Met, XP_011527882.1:p.Arg294Met, XP_011527884.1:p.Arg294Met, XP_016883845.1:p.Arg105Met, XP_011527887.1:p.Arg105Met, NP_001339521.1:p.Arg294Met, NP_001339520.1:p.Arg269Met, NP_001339524.1:p.Arg127Met, XP_024307849.1:p.Arg269Met, NP_001339522.1:p.Arg269Met, NP_001339523.1:p.Arg269Met, NP_001339525.1:p.Arg269Met, NP_001339526.1:p.Arg294Met, XP_047296740.1:p.Arg294Met, XP_047296741.1:p.Arg269Met

                                16.

                                rs1459279500 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  21:21286360 (GRCh38)
                                  21:22658680 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:21286359:A:G
                                  Gene:
                                  NCAM2 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000021.9:g.21286360A>G, NC_000021.8:g.22658680A>G, NM_004540.5:c.429A>G, NM_004540.4:c.429A>G, NM_004540.3:c.429A>G, XM_011529575.4:c.504A>G, XM_011529575.3:c.504A>G, XM_011529575.2:c.504A>G, XM_011529575.1:c.504A>G, XM_011529581.4:c.504A>G, XM_011529581.3:c.504A>G, XM_011529581.2:c.504A>G, XM_011529581.1:c.504A>G, XM_011529580.4:c.504A>G, XM_011529580.3:c.504A>G, XM_011529580.2:c.504A>G, XM_011529580.1:c.504A>G, XM_011529582.4:c.504A>G, XM_011529582.3:c.504A>G, XM_011529582.2:c.504A>G, XM_011529582.1:c.504A>G, XM_017028356.3:c.-76A>G, XM_017028356.2:c.-76A>G, XM_017028356.1:c.-76A>G, NM_001352592.2:c.504A>G, NM_001352592.1:c.504A>G, NM_001352591.2:c.429A>G, NM_001352591.1:c.429A>G, XM_024452081.2:c.429A>G, XM_024452081.1:c.429A>G, NM_001352593.2:c.429A>G, NM_001352593.1:c.429A>G, NM_001352594.2:c.429A>G, NM_001352594.1:c.429A>G, NM_001352596.2:c.429A>G, NM_001352596.1:c.429A>G, NM_001352597.2:c.504A>G, NM_001352597.1:c.504A>G, XM_047440784.1:c.504A>G, XM_047440785.1:c.429A>G

                                  17.

                                  rs1454934592 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    21:21335541 (GRCh38)
                                    21:22707861 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:21335540:A:G
                                    Gene:
                                    NCAM2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000021.9:g.21335541A>G, NC_000021.8:g.22707861A>G, NM_004540.5:c.774A>G, NM_004540.4:c.774A>G, NM_004540.3:c.774A>G, XM_011529575.4:c.849A>G, XM_011529575.3:c.849A>G, XM_011529575.2:c.849A>G, XM_011529575.1:c.849A>G, XM_011529581.4:c.849A>G, XM_011529581.3:c.849A>G, XM_011529581.2:c.849A>G, XM_011529581.1:c.849A>G, XM_011529580.4:c.849A>G, XM_011529580.3:c.849A>G, XM_011529580.2:c.849A>G, XM_011529580.1:c.849A>G, XM_011529582.4:c.849A>G, XM_011529582.3:c.849A>G, XM_011529582.2:c.849A>G, XM_011529582.1:c.849A>G, XM_017028356.3:c.282A>G, XM_017028356.2:c.282A>G, XM_017028356.1:c.282A>G, XM_011529585.3:c.282A>G, XM_011529585.2:c.282A>G, XM_011529585.1:c.282A>G, NM_001352592.2:c.849A>G, NM_001352592.1:c.849A>G, NM_001352591.2:c.774A>G, NM_001352591.1:c.774A>G, NM_001352595.2:c.348A>G, NM_001352595.1:c.348A>G, XM_024452081.2:c.774A>G, XM_024452081.1:c.774A>G, NM_001352593.2:c.774A>G, NM_001352593.1:c.774A>G, NM_001352594.2:c.774A>G, NM_001352594.1:c.774A>G, NM_001352596.2:c.774A>G, NM_001352596.1:c.774A>G, NM_001352597.2:c.849A>G, NM_001352597.1:c.849A>G, XM_047440784.1:c.849A>G, XM_047440785.1:c.774A>G, NP_004531.2:p.Ile258Met, XP_011527877.1:p.Ile283Met, XP_011527883.1:p.Ile283Met, XP_011527882.1:p.Ile283Met, XP_011527884.1:p.Ile283Met, XP_016883845.1:p.Ile94Met, XP_011527887.1:p.Ile94Met, NP_001339521.1:p.Ile283Met, NP_001339520.1:p.Ile258Met, NP_001339524.1:p.Ile116Met, XP_024307849.1:p.Ile258Met, NP_001339522.1:p.Ile258Met, NP_001339523.1:p.Ile258Met, NP_001339525.1:p.Ile258Met, NP_001339526.1:p.Ile283Met, XP_047296740.1:p.Ile283Met, XP_047296741.1:p.Ile258Met

                                    18.

                                    rs1454498622 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      21:21286340 (GRCh38)
                                      21:22658660 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:21286339:C:T
                                      Gene:
                                      NCAM2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,stop_gained,coding_sequence_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000021.9:g.21286340C>T, NC_000021.8:g.22658660C>T, NM_004540.5:c.409C>T, NM_004540.4:c.409C>T, NM_004540.3:c.409C>T, XM_011529575.4:c.484C>T, XM_011529575.3:c.484C>T, XM_011529575.2:c.484C>T, XM_011529575.1:c.484C>T, XM_011529581.4:c.484C>T, XM_011529581.3:c.484C>T, XM_011529581.2:c.484C>T, XM_011529581.1:c.484C>T, XM_011529580.4:c.484C>T, XM_011529580.3:c.484C>T, XM_011529580.2:c.484C>T, XM_011529580.1:c.484C>T, XM_011529582.4:c.484C>T, XM_011529582.3:c.484C>T, XM_011529582.2:c.484C>T, XM_011529582.1:c.484C>T, NM_001352592.2:c.484C>T, NM_001352592.1:c.484C>T, NM_001352591.2:c.409C>T, NM_001352591.1:c.409C>T, XM_024452081.2:c.409C>T, XM_024452081.1:c.409C>T, NM_001352593.2:c.409C>T, NM_001352593.1:c.409C>T, NM_001352594.2:c.409C>T, NM_001352594.1:c.409C>T, NM_001352596.2:c.409C>T, NM_001352596.1:c.409C>T, NM_001352597.2:c.484C>T, NM_001352597.1:c.484C>T, XM_047440784.1:c.484C>T, XM_047440785.1:c.409C>T, NP_004531.2:p.Arg137Ter, XP_011527877.1:p.Arg162Ter, XP_011527883.1:p.Arg162Ter, XP_011527882.1:p.Arg162Ter, XP_011527884.1:p.Arg162Ter, NP_001339521.1:p.Arg162Ter, NP_001339520.1:p.Arg137Ter, XP_024307849.1:p.Arg137Ter, NP_001339522.1:p.Arg137Ter, NP_001339523.1:p.Arg137Ter, NP_001339525.1:p.Arg137Ter, NP_001339526.1:p.Arg162Ter, XP_047296740.1:p.Arg162Ter, XP_047296741.1:p.Arg137Ter

                                      19.

                                      rs1452720475 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        21:21373864 (GRCh38)
                                        21:22746184 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:21373863:G:A,NC_000021.9:21373863:G:T
                                        Gene:
                                        NCAM2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000021.9:g.21373864G>A, NC_000021.9:g.21373864G>T, NC_000021.8:g.22746184G>A, NC_000021.8:g.22746184G>T, NM_004540.5:c.1046G>A, NM_004540.5:c.1046G>T, NM_004540.4:c.1046G>A, NM_004540.4:c.1046G>T, NM_004540.3:c.1046G>A, NM_004540.3:c.1046G>T, XM_011529575.4:c.1121G>A, XM_011529575.4:c.1121G>T, XM_011529575.3:c.1121G>A, XM_011529575.3:c.1121G>T, XM_011529575.2:c.1121G>A, XM_011529575.2:c.1121G>T, XM_011529575.1:c.1121G>A, XM_011529575.1:c.1121G>T, XM_011529581.4:c.1121G>A, XM_011529581.4:c.1121G>T, XM_011529581.3:c.1121G>A, XM_011529581.3:c.1121G>T, XM_011529581.2:c.1121G>A, XM_011529581.2:c.1121G>T, XM_011529581.1:c.1121G>A, XM_011529581.1:c.1121G>T, XM_011529580.4:c.1121G>A, XM_011529580.4:c.1121G>T, XM_011529580.3:c.1121G>A, XM_011529580.3:c.1121G>T, XM_011529580.2:c.1121G>A, XM_011529580.2:c.1121G>T, XM_011529580.1:c.1121G>A, XM_011529580.1:c.1121G>T, XM_011529582.4:c.1121G>A, XM_011529582.4:c.1121G>T, XM_011529582.3:c.1121G>A, XM_011529582.3:c.1121G>T, XM_011529582.2:c.1121G>A, XM_011529582.2:c.1121G>T, XM_011529582.1:c.1121G>A, XM_011529582.1:c.1121G>T, XM_017028356.3:c.554G>A, XM_017028356.3:c.554G>T, XM_017028356.2:c.554G>A, XM_017028356.2:c.554G>T, XM_017028356.1:c.554G>A, XM_017028356.1:c.554G>T, XM_011529585.3:c.554G>A, XM_011529585.3:c.554G>T, XM_011529585.2:c.554G>A, XM_011529585.2:c.554G>T, XM_011529585.1:c.554G>A, XM_011529585.1:c.554G>T, NM_001352592.2:c.1121G>A, NM_001352592.2:c.1121G>T, NM_001352592.1:c.1121G>A, NM_001352592.1:c.1121G>T, NM_001352591.2:c.1046G>A, NM_001352591.2:c.1046G>T, NM_001352591.1:c.1046G>A, NM_001352591.1:c.1046G>T, NM_001352595.2:c.620G>A, NM_001352595.2:c.620G>T, NM_001352595.1:c.620G>A, NM_001352595.1:c.620G>T, XM_024452081.2:c.1046G>A, XM_024452081.2:c.1046G>T, XM_024452081.1:c.1046G>A, XM_024452081.1:c.1046G>T, NM_001352593.2:c.1046G>A, NM_001352593.2:c.1046G>T, NM_001352593.1:c.1046G>A, NM_001352593.1:c.1046G>T, NM_001352594.2:c.1046G>A, NM_001352594.2:c.1046G>T, NM_001352594.1:c.1046G>A, NM_001352594.1:c.1046G>T, NM_001352596.2:c.1046G>A, NM_001352596.2:c.1046G>T, NM_001352596.1:c.1046G>A, NM_001352596.1:c.1046G>T, NM_001352597.2:c.1121G>A, NM_001352597.2:c.1121G>T, NM_001352597.1:c.1121G>A, NM_001352597.1:c.1121G>T, XM_047440784.1:c.1121G>A, XM_047440784.1:c.1121G>T, XM_047440785.1:c.1046G>A, XM_047440785.1:c.1046G>T, NP_004531.2:p.Ser349Asn, NP_004531.2:p.Ser349Ile, XP_011527877.1:p.Ser374Asn, XP_011527877.1:p.Ser374Ile, XP_011527883.1:p.Ser374Asn, XP_011527883.1:p.Ser374Ile, XP_011527882.1:p.Ser374Asn, XP_011527882.1:p.Ser374Ile, XP_011527884.1:p.Ser374Asn, XP_011527884.1:p.Ser374Ile, XP_016883845.1:p.Ser185Asn, XP_016883845.1:p.Ser185Ile, XP_011527887.1:p.Ser185Asn, XP_011527887.1:p.Ser185Ile, NP_001339521.1:p.Ser374Asn, NP_001339521.1:p.Ser374Ile, NP_001339520.1:p.Ser349Asn, NP_001339520.1:p.Ser349Ile, NP_001339524.1:p.Ser207Asn, NP_001339524.1:p.Ser207Ile, XP_024307849.1:p.Ser349Asn, XP_024307849.1:p.Ser349Ile, NP_001339522.1:p.Ser349Asn, NP_001339522.1:p.Ser349Ile, NP_001339523.1:p.Ser349Asn, NP_001339523.1:p.Ser349Ile, NP_001339525.1:p.Ser349Asn, NP_001339525.1:p.Ser349Ile, NP_001339526.1:p.Ser374Asn, NP_001339526.1:p.Ser374Ile, XP_047296740.1:p.Ser374Asn, XP_047296740.1:p.Ser374Ile, XP_047296741.1:p.Ser349Asn, XP_047296741.1:p.Ser349Ile

                                        20.

                                        rs1450122607 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          21:21286395 (GRCh38)
                                          21:22658715 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:21286394:T:C
                                          Gene:
                                          NCAM2 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                          HGVS:
                                          NC_000021.9:g.21286395T>C, NC_000021.8:g.22658715T>C, NM_004540.5:c.464T>C, NM_004540.4:c.464T>C, NM_004540.3:c.464T>C, XM_011529575.4:c.539T>C, XM_011529575.3:c.539T>C, XM_011529575.2:c.539T>C, XM_011529575.1:c.539T>C, XM_011529581.4:c.539T>C, XM_011529581.3:c.539T>C, XM_011529581.2:c.539T>C, XM_011529581.1:c.539T>C, XM_011529580.4:c.539T>C, XM_011529580.3:c.539T>C, XM_011529580.2:c.539T>C, XM_011529580.1:c.539T>C, XM_011529582.4:c.539T>C, XM_011529582.3:c.539T>C, XM_011529582.2:c.539T>C, XM_011529582.1:c.539T>C, XM_017028356.3:c.-41T>C, XM_017028356.2:c.-41T>C, XM_017028356.1:c.-41T>C, NM_001352592.2:c.539T>C, NM_001352592.1:c.539T>C, NM_001352591.2:c.464T>C, NM_001352591.1:c.464T>C, XM_024452081.2:c.464T>C, XM_024452081.1:c.464T>C, NM_001352593.2:c.464T>C, NM_001352593.1:c.464T>C, NM_001352594.2:c.464T>C, NM_001352594.1:c.464T>C, NM_001352596.2:c.464T>C, NM_001352596.1:c.464T>C, NM_001352597.2:c.539T>C, NM_001352597.1:c.539T>C, XM_047440784.1:c.539T>C, XM_047440785.1:c.464T>C, NP_004531.2:p.Val155Ala, XP_011527877.1:p.Val180Ala, XP_011527883.1:p.Val180Ala, XP_011527882.1:p.Val180Ala, XP_011527884.1:p.Val180Ala, NP_001339521.1:p.Val180Ala, NP_001339520.1:p.Val155Ala, XP_024307849.1:p.Val155Ala, NP_001339522.1:p.Val155Ala, NP_001339523.1:p.Val155Ala, NP_001339525.1:p.Val155Ala, NP_001339526.1:p.Val180Ala, XP_047296740.1:p.Val180Ala, XP_047296741.1:p.Val155Ala

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