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Items: 1 to 20 of 1213

1.

rs1490093516 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:211657972 (GRCh38)
    2:212522697 (GRCh37)
    Canonical SPDI:
    NC_000002.12:211657971:C:T
    Gene:
    ERBB4 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.211657972C>T, NC_000002.11:g.212522697C>T, NG_011805.2:g.885657G>A, XM_006712364.4:c.1894G>A, XM_006712364.3:c.1894G>A, XM_006712364.2:c.1894G>A, XM_006712364.1:c.1894G>A, XM_005246376.4:c.1894G>A, XM_005246376.3:c.1894G>A, XM_005246376.2:c.1894G>A, XM_005246376.1:c.1894G>A, XM_005246377.4:c.1894G>A, XM_005246377.3:c.1894G>A, XM_005246377.2:c.1894G>A, XM_005246377.1:c.1894G>A, XM_017003577.3:c.1972G>A, XM_017003577.2:c.1972G>A, XM_017003577.1:c.1972G>A, XM_017003579.3:c.1972G>A, XM_017003579.2:c.1972G>A, XM_017003579.1:c.1972G>A, XM_017003580.3:c.1972G>A, XM_017003580.2:c.1972G>A, XM_017003580.1:c.1972G>A, XM_017003582.2:c.1273G>A, XM_017003582.1:c.1273G>A, XP_006712427.1:p.Asp632Asn, XP_005246433.1:p.Asp632Asn, XP_005246434.1:p.Asp632Asn, XP_016859066.1:p.Asp658Asn, XP_016859068.1:p.Asp658Asn, XP_016859069.1:p.Asp658Asn, XP_016859071.1:p.Asp425Asn

    2.

    rs1490090343 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      2:212538516 (GRCh38)
      2:213403240 (GRCh37)
      Canonical SPDI:
      NC_000002.12:212538515:T:A
      Gene:
      ERBB4 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000011/3 (TOPMED)
      HGVS:

      3.

      rs1490027011 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:211623926 (GRCh38)
        2:212488651 (GRCh37)
        Canonical SPDI:
        NC_000002.12:211623925:T:C
        Gene:
        ERBB4 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.211623926T>C, NC_000002.11:g.212488651T>C, NG_011805.2:g.919703A>G, NM_005235.3:c.2198A>G, NM_005235.2:c.2198A>G, NM_001042599.1:c.2198A>G, XM_006712364.4:c.2243A>G, XM_006712364.3:c.2243A>G, XM_006712364.2:c.2243A>G, XM_006712364.1:c.2243A>G, XM_005246376.4:c.2168A>G, XM_005246376.3:c.2168A>G, XM_005246376.2:c.2168A>G, XM_005246376.1:c.2168A>G, XM_005246377.4:c.2168A>G, XM_005246377.3:c.2168A>G, XM_005246377.2:c.2168A>G, XM_005246377.1:c.2168A>G, XM_017003577.3:c.2321A>G, XM_017003577.2:c.2321A>G, XM_017003577.1:c.2321A>G, XM_017003578.3:c.2276A>G, XM_017003578.2:c.2276A>G, XM_017003578.1:c.2276A>G, XM_017003579.3:c.2321A>G, XM_017003579.2:c.2321A>G, XM_017003579.1:c.2321A>G, XM_017003580.3:c.2246A>G, XM_017003580.2:c.2246A>G, XM_017003580.1:c.2246A>G, XM_017003581.3:c.2276A>G, XM_017003581.2:c.2276A>G, XM_017003581.1:c.2276A>G, XM_017003582.2:c.1622A>G, XM_017003582.1:c.1622A>G, NP_005226.1:p.Tyr733Cys, NP_001036064.1:p.Tyr733Cys, XP_006712427.1:p.Tyr748Cys, XP_005246433.1:p.Tyr723Cys, XP_005246434.1:p.Tyr723Cys, XP_016859066.1:p.Tyr774Cys, XP_016859067.1:p.Tyr759Cys, XP_016859068.1:p.Tyr774Cys, XP_016859069.1:p.Tyr749Cys, XP_016859070.1:p.Tyr759Cys, XP_016859071.1:p.Tyr541Cys

        4.

        rs1488063341 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          2:211788062 (GRCh38)
          2:212652787 (GRCh37)
          Canonical SPDI:
          NC_000002.12:211788061:G:T
          Gene:
          ERBB4 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.211788062G>T, NC_000002.11:g.212652787G>T, NG_011805.2:g.755567C>A, NM_005235.3:c.519C>A, NM_005235.2:c.519C>A, NM_001042599.1:c.519C>A, XM_006712364.4:c.519C>A, XM_006712364.3:c.519C>A, XM_006712364.2:c.519C>A, XM_006712364.1:c.519C>A, XM_005246376.4:c.519C>A, XM_005246376.3:c.519C>A, XM_005246376.2:c.519C>A, XM_005246376.1:c.519C>A, XM_005246377.4:c.519C>A, XM_005246377.3:c.519C>A, XM_005246377.2:c.519C>A, XM_005246377.1:c.519C>A, XM_017003577.3:c.519C>A, XM_017003577.2:c.519C>A, XM_017003577.1:c.519C>A, XM_017003578.3:c.519C>A, XM_017003578.2:c.519C>A, XM_017003578.1:c.519C>A, XM_017003579.3:c.519C>A, XM_017003579.2:c.519C>A, XM_017003579.1:c.519C>A, XM_017003580.3:c.519C>A, XM_017003580.2:c.519C>A, XM_017003580.1:c.519C>A, XM_017003581.3:c.519C>A, XM_017003581.2:c.519C>A, XM_017003581.1:c.519C>A

          5.

          rs1486455950 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:211712069 (GRCh38)
            2:212576794 (GRCh37)
            Canonical SPDI:
            NC_000002.12:211712068:G:A
            Gene:
            ERBB4 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.211712069G>A, NC_000002.11:g.212576794G>A, NG_011805.2:g.831560C>T, NM_005235.3:c.1105C>T, NM_005235.2:c.1105C>T, NM_001042599.1:c.1105C>T, XM_006712364.4:c.1105C>T, XM_006712364.3:c.1105C>T, XM_006712364.2:c.1105C>T, XM_006712364.1:c.1105C>T, XM_005246376.4:c.1105C>T, XM_005246376.3:c.1105C>T, XM_005246376.2:c.1105C>T, XM_005246376.1:c.1105C>T, XM_005246377.4:c.1105C>T, XM_005246377.3:c.1105C>T, XM_005246377.2:c.1105C>T, XM_005246377.1:c.1105C>T, XM_017003577.3:c.1183C>T, XM_017003577.2:c.1183C>T, XM_017003577.1:c.1183C>T, XM_017003578.3:c.1183C>T, XM_017003578.2:c.1183C>T, XM_017003578.1:c.1183C>T, XM_017003579.3:c.1183C>T, XM_017003579.2:c.1183C>T, XM_017003579.1:c.1183C>T, XM_017003580.3:c.1183C>T, XM_017003580.2:c.1183C>T, XM_017003580.1:c.1183C>T, XM_017003581.3:c.1183C>T, XM_017003581.2:c.1183C>T, XM_017003581.1:c.1183C>T, XM_017003582.2:c.484C>T, XM_017003582.1:c.484C>T

            6.

            rs1485293447 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              2:211725079 (GRCh38)
              2:212589804 (GRCh37)
              Canonical SPDI:
              NC_000002.12:211725078:G:A,NC_000002.12:211725078:G:C
              Gene:
              ERBB4 (Varview)
              Functional Consequence:
              synonymous_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.211725079G>A, NC_000002.12:g.211725079G>C, NC_000002.11:g.212589804G>A, NC_000002.11:g.212589804G>C, NG_011805.2:g.818550C>T, NG_011805.2:g.818550C>G, NM_005235.3:c.738C>T, NM_005235.3:c.738C>G, NM_005235.2:c.738C>T, NM_005235.2:c.738C>G, NM_001042599.1:c.738C>T, NM_001042599.1:c.738C>G, XM_006712364.4:c.738C>T, XM_006712364.4:c.738C>G, XM_006712364.3:c.738C>T, XM_006712364.3:c.738C>G, XM_006712364.2:c.738C>T, XM_006712364.2:c.738C>G, XM_006712364.1:c.738C>T, XM_006712364.1:c.738C>G, XM_005246376.4:c.738C>T, XM_005246376.4:c.738C>G, XM_005246376.3:c.738C>T, XM_005246376.3:c.738C>G, XM_005246376.2:c.738C>T, XM_005246376.2:c.738C>G, XM_005246376.1:c.738C>T, XM_005246376.1:c.738C>G, XM_005246377.4:c.738C>T, XM_005246377.4:c.738C>G, XM_005246377.3:c.738C>T, XM_005246377.3:c.738C>G, XM_005246377.2:c.738C>T, XM_005246377.2:c.738C>G, XM_005246377.1:c.738C>T, XM_005246377.1:c.738C>G, XM_017003577.3:c.816C>T, XM_017003577.3:c.816C>G, XM_017003577.2:c.816C>T, XM_017003577.2:c.816C>G, XM_017003577.1:c.816C>T, XM_017003577.1:c.816C>G, XM_017003578.3:c.816C>T, XM_017003578.3:c.816C>G, XM_017003578.2:c.816C>T, XM_017003578.2:c.816C>G, XM_017003578.1:c.816C>T, XM_017003578.1:c.816C>G, XM_017003579.3:c.816C>T, XM_017003579.3:c.816C>G, XM_017003579.2:c.816C>T, XM_017003579.2:c.816C>G, XM_017003579.1:c.816C>T, XM_017003579.1:c.816C>G, XM_017003580.3:c.816C>T, XM_017003580.3:c.816C>G, XM_017003580.2:c.816C>T, XM_017003580.2:c.816C>G, XM_017003580.1:c.816C>T, XM_017003580.1:c.816C>G, XM_017003581.3:c.816C>T, XM_017003581.3:c.816C>G, XM_017003581.2:c.816C>T, XM_017003581.2:c.816C>G, XM_017003581.1:c.816C>T, XM_017003581.1:c.816C>G, XM_017003582.2:c.117C>T, XM_017003582.2:c.117C>G, XM_017003582.1:c.117C>T, XM_017003582.1:c.117C>G, NP_005226.1:p.Cys246Trp, NP_001036064.1:p.Cys246Trp, XP_006712427.1:p.Cys246Trp, XP_005246433.1:p.Cys246Trp, XP_005246434.1:p.Cys246Trp, XP_016859066.1:p.Cys272Trp, XP_016859067.1:p.Cys272Trp, XP_016859068.1:p.Cys272Trp, XP_016859069.1:p.Cys272Trp, XP_016859070.1:p.Cys272Trp, XP_016859071.1:p.Cys39Trp

              7.

              rs1484791833 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                2:211713624 (GRCh38)
                2:212578349 (GRCh37)
                Canonical SPDI:
                NC_000002.12:211713623:G:A,NC_000002.12:211713623:G:C,NC_000002.12:211713623:G:T
                Gene:
                ERBB4 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                HGVS:
                NC_000002.12:g.211713624G>A, NC_000002.12:g.211713624G>C, NC_000002.12:g.211713624G>T, NC_000002.11:g.212578349G>A, NC_000002.11:g.212578349G>C, NC_000002.11:g.212578349G>T, NG_011805.2:g.830005C>T, NG_011805.2:g.830005C>G, NG_011805.2:g.830005C>A, NM_005235.3:c.908C>T, NM_005235.3:c.908C>G, NM_005235.3:c.908C>A, NM_005235.2:c.908C>T, NM_005235.2:c.908C>G, NM_005235.2:c.908C>A, NM_001042599.1:c.908C>T, NM_001042599.1:c.908C>G, NM_001042599.1:c.908C>A, XM_006712364.4:c.908C>T, XM_006712364.4:c.908C>G, XM_006712364.4:c.908C>A, XM_006712364.3:c.908C>T, XM_006712364.3:c.908C>G, XM_006712364.3:c.908C>A, XM_006712364.2:c.908C>T, XM_006712364.2:c.908C>G, XM_006712364.2:c.908C>A, XM_006712364.1:c.908C>T, XM_006712364.1:c.908C>G, XM_006712364.1:c.908C>A, XM_005246376.4:c.908C>T, XM_005246376.4:c.908C>G, XM_005246376.4:c.908C>A, XM_005246376.3:c.908C>T, XM_005246376.3:c.908C>G, XM_005246376.3:c.908C>A, XM_005246376.2:c.908C>T, XM_005246376.2:c.908C>G, XM_005246376.2:c.908C>A, XM_005246376.1:c.908C>T, XM_005246376.1:c.908C>G, XM_005246376.1:c.908C>A, XM_005246377.4:c.908C>T, XM_005246377.4:c.908C>G, XM_005246377.4:c.908C>A, XM_005246377.3:c.908C>T, XM_005246377.3:c.908C>G, XM_005246377.3:c.908C>A, XM_005246377.2:c.908C>T, XM_005246377.2:c.908C>G, XM_005246377.2:c.908C>A, XM_005246377.1:c.908C>T, XM_005246377.1:c.908C>G, XM_005246377.1:c.908C>A, XM_017003577.3:c.986C>T, XM_017003577.3:c.986C>G, XM_017003577.3:c.986C>A, XM_017003577.2:c.986C>T, XM_017003577.2:c.986C>G, XM_017003577.2:c.986C>A, XM_017003577.1:c.986C>T, XM_017003577.1:c.986C>G, XM_017003577.1:c.986C>A, XM_017003578.3:c.986C>T, XM_017003578.3:c.986C>G, XM_017003578.3:c.986C>A, XM_017003578.2:c.986C>T, XM_017003578.2:c.986C>G, XM_017003578.2:c.986C>A, XM_017003578.1:c.986C>T, XM_017003578.1:c.986C>G, XM_017003578.1:c.986C>A, XM_017003579.3:c.986C>T, XM_017003579.3:c.986C>G, XM_017003579.3:c.986C>A, XM_017003579.2:c.986C>T, XM_017003579.2:c.986C>G, XM_017003579.2:c.986C>A, XM_017003579.1:c.986C>T, XM_017003579.1:c.986C>G, XM_017003579.1:c.986C>A, XM_017003580.3:c.986C>T, XM_017003580.3:c.986C>G, XM_017003580.3:c.986C>A, XM_017003580.2:c.986C>T, XM_017003580.2:c.986C>G, XM_017003580.2:c.986C>A, XM_017003580.1:c.986C>T, XM_017003580.1:c.986C>G, XM_017003580.1:c.986C>A, XM_017003581.3:c.986C>T, XM_017003581.3:c.986C>G, XM_017003581.3:c.986C>A, XM_017003581.2:c.986C>T, XM_017003581.2:c.986C>G, XM_017003581.2:c.986C>A, XM_017003581.1:c.986C>T, XM_017003581.1:c.986C>G, XM_017003581.1:c.986C>A, XM_017003582.2:c.287C>T, XM_017003582.2:c.287C>G, XM_017003582.2:c.287C>A, XM_017003582.1:c.287C>T, XM_017003582.1:c.287C>G, XM_017003582.1:c.287C>A, NP_005226.1:p.Ser303Phe, NP_005226.1:p.Ser303Cys, NP_005226.1:p.Ser303Tyr, NP_001036064.1:p.Ser303Phe, NP_001036064.1:p.Ser303Cys, NP_001036064.1:p.Ser303Tyr, XP_006712427.1:p.Ser303Phe, XP_006712427.1:p.Ser303Cys, XP_006712427.1:p.Ser303Tyr, XP_005246433.1:p.Ser303Phe, XP_005246433.1:p.Ser303Cys, XP_005246433.1:p.Ser303Tyr, XP_005246434.1:p.Ser303Phe, XP_005246434.1:p.Ser303Cys, XP_005246434.1:p.Ser303Tyr, XP_016859066.1:p.Ser329Phe, XP_016859066.1:p.Ser329Cys, XP_016859066.1:p.Ser329Tyr, XP_016859067.1:p.Ser329Phe, XP_016859067.1:p.Ser329Cys, XP_016859067.1:p.Ser329Tyr, XP_016859068.1:p.Ser329Phe, XP_016859068.1:p.Ser329Cys, XP_016859068.1:p.Ser329Tyr, XP_016859069.1:p.Ser329Phe, XP_016859069.1:p.Ser329Cys, XP_016859069.1:p.Ser329Tyr, XP_016859070.1:p.Ser329Phe, XP_016859070.1:p.Ser329Cys, XP_016859070.1:p.Ser329Tyr, XP_016859071.1:p.Ser96Phe, XP_016859071.1:p.Ser96Cys, XP_016859071.1:p.Ser96Tyr

                8.

                rs1484741477 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  2:211561986 (GRCh38)
                  2:212426711 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:211561985:C:A,NC_000002.12:211561985:C:G,NC_000002.12:211561985:C:T
                  Gene:
                  ERBB4 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000015/4 (TOPMED)
                  HGVS:
                  NC_000002.12:g.211561986C>A, NC_000002.12:g.211561986C>G, NC_000002.12:g.211561986C>T, NC_000002.11:g.212426711C>A, NC_000002.11:g.212426711C>G, NC_000002.11:g.212426711C>T, NG_011805.2:g.981643G>T, NG_011805.2:g.981643G>C, NG_011805.2:g.981643G>A, NM_005235.3:c.2404G>T, NM_005235.3:c.2404G>C, NM_005235.3:c.2404G>A, NM_005235.2:c.2404G>T, NM_005235.2:c.2404G>C, NM_005235.2:c.2404G>A, NM_001042599.1:c.2404G>T, NM_001042599.1:c.2404G>C, NM_001042599.1:c.2404G>A, XM_006712364.4:c.2449G>T, XM_006712364.4:c.2449G>C, XM_006712364.4:c.2449G>A, XM_006712364.3:c.2449G>T, XM_006712364.3:c.2449G>C, XM_006712364.3:c.2449G>A, XM_006712364.2:c.2449G>T, XM_006712364.2:c.2449G>C, XM_006712364.2:c.2449G>A, XM_006712364.1:c.2449G>T, XM_006712364.1:c.2449G>C, XM_006712364.1:c.2449G>A, XM_005246376.4:c.2374G>T, XM_005246376.4:c.2374G>C, XM_005246376.4:c.2374G>A, XM_005246376.3:c.2374G>T, XM_005246376.3:c.2374G>C, XM_005246376.3:c.2374G>A, XM_005246376.2:c.2374G>T, XM_005246376.2:c.2374G>C, XM_005246376.2:c.2374G>A, XM_005246376.1:c.2374G>T, XM_005246376.1:c.2374G>C, XM_005246376.1:c.2374G>A, XM_005246377.4:c.2374G>T, XM_005246377.4:c.2374G>C, XM_005246377.4:c.2374G>A, XM_005246377.3:c.2374G>T, XM_005246377.3:c.2374G>C, XM_005246377.3:c.2374G>A, XM_005246377.2:c.2374G>T, XM_005246377.2:c.2374G>C, XM_005246377.2:c.2374G>A, XM_005246377.1:c.2374G>T, XM_005246377.1:c.2374G>C, XM_005246377.1:c.2374G>A, XM_017003577.3:c.2527G>T, XM_017003577.3:c.2527G>C, XM_017003577.3:c.2527G>A, XM_017003577.2:c.2527G>T, XM_017003577.2:c.2527G>C, XM_017003577.2:c.2527G>A, XM_017003577.1:c.2527G>T, XM_017003577.1:c.2527G>C, XM_017003577.1:c.2527G>A, XM_017003578.3:c.2482G>T, XM_017003578.3:c.2482G>C, XM_017003578.3:c.2482G>A, XM_017003578.2:c.2482G>T, XM_017003578.2:c.2482G>C, XM_017003578.2:c.2482G>A, XM_017003578.1:c.2482G>T, XM_017003578.1:c.2482G>C, XM_017003578.1:c.2482G>A, XM_017003579.3:c.2527G>T, XM_017003579.3:c.2527G>C, XM_017003579.3:c.2527G>A, XM_017003579.2:c.2527G>T, XM_017003579.2:c.2527G>C, XM_017003579.2:c.2527G>A, XM_017003579.1:c.2527G>T, XM_017003579.1:c.2527G>C, XM_017003579.1:c.2527G>A, XM_017003580.3:c.2452G>T, XM_017003580.3:c.2452G>C, XM_017003580.3:c.2452G>A, XM_017003580.2:c.2452G>T, XM_017003580.2:c.2452G>C, XM_017003580.2:c.2452G>A, XM_017003580.1:c.2452G>T, XM_017003580.1:c.2452G>C, XM_017003580.1:c.2452G>A, XM_017003581.3:c.2482G>T, XM_017003581.3:c.2482G>C, XM_017003581.3:c.2482G>A, XM_017003581.2:c.2482G>T, XM_017003581.2:c.2482G>C, XM_017003581.2:c.2482G>A, XM_017003581.1:c.2482G>T, XM_017003581.1:c.2482G>C, XM_017003581.1:c.2482G>A, XM_017003582.2:c.1828G>T, XM_017003582.2:c.1828G>C, XM_017003582.2:c.1828G>A, XM_017003582.1:c.1828G>T, XM_017003582.1:c.1828G>C, XM_017003582.1:c.1828G>A, NP_005226.1:p.Gly802Cys, NP_005226.1:p.Gly802Arg, NP_005226.1:p.Gly802Ser, NP_001036064.1:p.Gly802Cys, NP_001036064.1:p.Gly802Arg, NP_001036064.1:p.Gly802Ser, XP_006712427.1:p.Gly817Cys, XP_006712427.1:p.Gly817Arg, XP_006712427.1:p.Gly817Ser, XP_005246433.1:p.Gly792Cys, XP_005246433.1:p.Gly792Arg, XP_005246433.1:p.Gly792Ser, XP_005246434.1:p.Gly792Cys, XP_005246434.1:p.Gly792Arg, XP_005246434.1:p.Gly792Ser, XP_016859066.1:p.Gly843Cys, XP_016859066.1:p.Gly843Arg, XP_016859066.1:p.Gly843Ser, XP_016859067.1:p.Gly828Cys, XP_016859067.1:p.Gly828Arg, XP_016859067.1:p.Gly828Ser, XP_016859068.1:p.Gly843Cys, XP_016859068.1:p.Gly843Arg, XP_016859068.1:p.Gly843Ser, XP_016859069.1:p.Gly818Cys, XP_016859069.1:p.Gly818Arg, XP_016859069.1:p.Gly818Ser, XP_016859070.1:p.Gly828Cys, XP_016859070.1:p.Gly828Arg, XP_016859070.1:p.Gly828Ser, XP_016859071.1:p.Gly610Cys, XP_016859071.1:p.Gly610Arg, XP_016859071.1:p.Gly610Ser

                  9.

                  rs1484686344 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    2:211387049 (GRCh38)
                    2:212251774 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:211387048:C:A,NC_000002.12:211387048:C:T
                    Gene:
                    ERBB4 (Varview)
                    Functional Consequence:
                    synonymous_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000002.12:g.211387049C>A, NC_000002.12:g.211387049C>T, NC_000002.11:g.212251774C>A, NC_000002.11:g.212251774C>T, NG_011805.2:g.1156580G>T, NG_011805.2:g.1156580G>A, NM_005235.3:c.3285G>T, NM_005235.3:c.3285G>A, NM_005235.2:c.3285G>T, NM_005235.2:c.3285G>A, NM_001042599.1:c.3237G>T, NM_001042599.1:c.3237G>A, XM_006712364.4:c.3330G>T, XM_006712364.4:c.3330G>A, XM_006712364.3:c.3330G>T, XM_006712364.3:c.3330G>A, XM_006712364.2:c.3330G>T, XM_006712364.2:c.3330G>A, XM_006712364.1:c.3330G>T, XM_006712364.1:c.3330G>A, XM_005246376.4:c.3255G>T, XM_005246376.4:c.3255G>A, XM_005246376.3:c.3255G>T, XM_005246376.3:c.3255G>A, XM_005246376.2:c.3255G>T, XM_005246376.2:c.3255G>A, XM_005246376.1:c.3255G>T, XM_005246376.1:c.3255G>A, XM_005246377.4:c.3207G>T, XM_005246377.4:c.3207G>A, XM_005246377.3:c.3207G>T, XM_005246377.3:c.3207G>A, XM_005246377.2:c.3207G>T, XM_005246377.2:c.3207G>A, XM_005246377.1:c.3207G>T, XM_005246377.1:c.3207G>A, XM_017003577.3:c.3408G>T, XM_017003577.3:c.3408G>A, XM_017003577.2:c.3408G>T, XM_017003577.2:c.3408G>A, XM_017003577.1:c.3408G>T, XM_017003577.1:c.3408G>A, XM_017003578.3:c.3363G>T, XM_017003578.3:c.3363G>A, XM_017003578.2:c.3363G>T, XM_017003578.2:c.3363G>A, XM_017003578.1:c.3363G>T, XM_017003578.1:c.3363G>A, XM_017003579.3:c.3360G>T, XM_017003579.3:c.3360G>A, XM_017003579.2:c.3360G>T, XM_017003579.2:c.3360G>A, XM_017003579.1:c.3360G>T, XM_017003579.1:c.3360G>A, XM_017003580.3:c.3333G>T, XM_017003580.3:c.3333G>A, XM_017003580.2:c.3333G>T, XM_017003580.2:c.3333G>A, XM_017003580.1:c.3333G>T, XM_017003580.1:c.3333G>A, XM_017003581.3:c.3315G>T, XM_017003581.3:c.3315G>A, XM_017003581.2:c.3315G>T, XM_017003581.2:c.3315G>A, XM_017003581.1:c.3315G>T, XM_017003581.1:c.3315G>A, XM_017003582.2:c.2709G>T, XM_017003582.2:c.2709G>A, XM_017003582.1:c.2709G>T, XM_017003582.1:c.2709G>A, NP_005226.1:p.Gln1095His, NP_001036064.1:p.Gln1079His, XP_006712427.1:p.Gln1110His, XP_005246433.1:p.Gln1085His, XP_005246434.1:p.Gln1069His, XP_016859066.1:p.Gln1136His, XP_016859067.1:p.Gln1121His, XP_016859068.1:p.Gln1120His, XP_016859069.1:p.Gln1111His, XP_016859070.1:p.Gln1105His, XP_016859071.1:p.Gln903His

                    10.

                    rs1483476866 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      2:211424168 (GRCh38)
                      2:212288893 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:211424167:C:A,NC_000002.12:211424167:C:T
                      Gene:
                      ERBB4 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.211424168C>A, NC_000002.12:g.211424168C>T, NC_000002.11:g.212288893C>A, NC_000002.11:g.212288893C>T, NG_011805.2:g.1119461G>T, NG_011805.2:g.1119461G>A, NM_005235.3:c.2853G>T, NM_005235.3:c.2853G>A, NM_005235.2:c.2853G>T, NM_005235.2:c.2853G>A, NM_001042599.1:c.2853G>T, NM_001042599.1:c.2853G>A, XM_006712364.4:c.2898G>T, XM_006712364.4:c.2898G>A, XM_006712364.3:c.2898G>T, XM_006712364.3:c.2898G>A, XM_006712364.2:c.2898G>T, XM_006712364.2:c.2898G>A, XM_006712364.1:c.2898G>T, XM_006712364.1:c.2898G>A, XM_005246376.4:c.2823G>T, XM_005246376.4:c.2823G>A, XM_005246376.3:c.2823G>T, XM_005246376.3:c.2823G>A, XM_005246376.2:c.2823G>T, XM_005246376.2:c.2823G>A, XM_005246376.1:c.2823G>T, XM_005246376.1:c.2823G>A, XM_005246377.4:c.2823G>T, XM_005246377.4:c.2823G>A, XM_005246377.3:c.2823G>T, XM_005246377.3:c.2823G>A, XM_005246377.2:c.2823G>T, XM_005246377.2:c.2823G>A, XM_005246377.1:c.2823G>T, XM_005246377.1:c.2823G>A, XM_017003577.3:c.2976G>T, XM_017003577.3:c.2976G>A, XM_017003577.2:c.2976G>T, XM_017003577.2:c.2976G>A, XM_017003577.1:c.2976G>T, XM_017003577.1:c.2976G>A, XM_017003578.3:c.2931G>T, XM_017003578.3:c.2931G>A, XM_017003578.2:c.2931G>T, XM_017003578.2:c.2931G>A, XM_017003578.1:c.2931G>T, XM_017003578.1:c.2931G>A, XM_017003579.3:c.2976G>T, XM_017003579.3:c.2976G>A, XM_017003579.2:c.2976G>T, XM_017003579.2:c.2976G>A, XM_017003579.1:c.2976G>T, XM_017003579.1:c.2976G>A, XM_017003580.3:c.2901G>T, XM_017003580.3:c.2901G>A, XM_017003580.2:c.2901G>T, XM_017003580.2:c.2901G>A, XM_017003580.1:c.2901G>T, XM_017003580.1:c.2901G>A, XM_017003581.3:c.2931G>T, XM_017003581.3:c.2931G>A, XM_017003581.2:c.2931G>T, XM_017003581.2:c.2931G>A, XM_017003581.1:c.2931G>T, XM_017003581.1:c.2931G>A, XM_017003582.2:c.2277G>T, XM_017003582.2:c.2277G>A, XM_017003582.1:c.2277G>T, XM_017003582.1:c.2277G>A, NP_005226.1:p.Met951Ile, NP_005226.1:p.Met951Ile, NP_001036064.1:p.Met951Ile, NP_001036064.1:p.Met951Ile, XP_006712427.1:p.Met966Ile, XP_006712427.1:p.Met966Ile, XP_005246433.1:p.Met941Ile, XP_005246433.1:p.Met941Ile, XP_005246434.1:p.Met941Ile, XP_005246434.1:p.Met941Ile, XP_016859066.1:p.Met992Ile, XP_016859066.1:p.Met992Ile, XP_016859067.1:p.Met977Ile, XP_016859067.1:p.Met977Ile, XP_016859068.1:p.Met992Ile, XP_016859068.1:p.Met992Ile, XP_016859069.1:p.Met967Ile, XP_016859069.1:p.Met967Ile, XP_016859070.1:p.Met977Ile, XP_016859070.1:p.Met977Ile, XP_016859071.1:p.Met759Ile, XP_016859071.1:p.Met759Ile

                      11.

                      rs1483383637 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        2:211630553 (GRCh38)
                        2:212495278 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:211630552:A:T
                        Gene:
                        ERBB4 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.211630553A>T, NC_000002.11:g.212495278A>T, NG_011805.2:g.913076T>A, NM_005235.3:c.1988T>A, NM_005235.2:c.1988T>A, NM_001042599.1:c.1988T>A, XM_006712364.4:c.2033T>A, XM_006712364.3:c.2033T>A, XM_006712364.2:c.2033T>A, XM_006712364.1:c.2033T>A, XM_005246376.4:c.1958T>A, XM_005246376.3:c.1958T>A, XM_005246376.2:c.1958T>A, XM_005246376.1:c.1958T>A, XM_005246377.4:c.1958T>A, XM_005246377.3:c.1958T>A, XM_005246377.2:c.1958T>A, XM_005246377.1:c.1958T>A, XM_017003577.3:c.2111T>A, XM_017003577.2:c.2111T>A, XM_017003577.1:c.2111T>A, XM_017003578.3:c.2066T>A, XM_017003578.2:c.2066T>A, XM_017003578.1:c.2066T>A, XM_017003579.3:c.2111T>A, XM_017003579.2:c.2111T>A, XM_017003579.1:c.2111T>A, XM_017003580.3:c.2036T>A, XM_017003580.2:c.2036T>A, XM_017003580.1:c.2036T>A, XM_017003581.3:c.2066T>A, XM_017003581.2:c.2066T>A, XM_017003581.1:c.2066T>A, XM_017003582.2:c.1412T>A, XM_017003582.1:c.1412T>A, NP_005226.1:p.Ile663Asn, NP_001036064.1:p.Ile663Asn, XP_006712427.1:p.Ile678Asn, XP_005246433.1:p.Ile653Asn, XP_005246434.1:p.Ile653Asn, XP_016859066.1:p.Ile704Asn, XP_016859067.1:p.Ile689Asn, XP_016859068.1:p.Ile704Asn, XP_016859069.1:p.Ile679Asn, XP_016859070.1:p.Ile689Asn, XP_016859071.1:p.Ile471Asn

                        12.

                        rs1483192170 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          2:211725082 (GRCh38)
                          2:212589807 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:211725081:G:A,NC_000002.12:211725081:G:C
                          Gene:
                          ERBB4 (Varview)
                          Functional Consequence:
                          synonymous_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000002.12:g.211725082G>A, NC_000002.12:g.211725082G>C, NC_000002.11:g.212589807G>A, NC_000002.11:g.212589807G>C, NG_011805.2:g.818547C>T, NG_011805.2:g.818547C>G, NM_005235.3:c.735C>T, NM_005235.3:c.735C>G, NM_005235.2:c.735C>T, NM_005235.2:c.735C>G, NM_001042599.1:c.735C>T, NM_001042599.1:c.735C>G, XM_006712364.4:c.735C>T, XM_006712364.4:c.735C>G, XM_006712364.3:c.735C>T, XM_006712364.3:c.735C>G, XM_006712364.2:c.735C>T, XM_006712364.2:c.735C>G, XM_006712364.1:c.735C>T, XM_006712364.1:c.735C>G, XM_005246376.4:c.735C>T, XM_005246376.4:c.735C>G, XM_005246376.3:c.735C>T, XM_005246376.3:c.735C>G, XM_005246376.2:c.735C>T, XM_005246376.2:c.735C>G, XM_005246376.1:c.735C>T, XM_005246376.1:c.735C>G, XM_005246377.4:c.735C>T, XM_005246377.4:c.735C>G, XM_005246377.3:c.735C>T, XM_005246377.3:c.735C>G, XM_005246377.2:c.735C>T, XM_005246377.2:c.735C>G, XM_005246377.1:c.735C>T, XM_005246377.1:c.735C>G, XM_017003577.3:c.813C>T, XM_017003577.3:c.813C>G, XM_017003577.2:c.813C>T, XM_017003577.2:c.813C>G, XM_017003577.1:c.813C>T, XM_017003577.1:c.813C>G, XM_017003578.3:c.813C>T, XM_017003578.3:c.813C>G, XM_017003578.2:c.813C>T, XM_017003578.2:c.813C>G, XM_017003578.1:c.813C>T, XM_017003578.1:c.813C>G, XM_017003579.3:c.813C>T, XM_017003579.3:c.813C>G, XM_017003579.2:c.813C>T, XM_017003579.2:c.813C>G, XM_017003579.1:c.813C>T, XM_017003579.1:c.813C>G, XM_017003580.3:c.813C>T, XM_017003580.3:c.813C>G, XM_017003580.2:c.813C>T, XM_017003580.2:c.813C>G, XM_017003580.1:c.813C>T, XM_017003580.1:c.813C>G, XM_017003581.3:c.813C>T, XM_017003581.3:c.813C>G, XM_017003581.2:c.813C>T, XM_017003581.2:c.813C>G, XM_017003581.1:c.813C>T, XM_017003581.1:c.813C>G, XM_017003582.2:c.114C>T, XM_017003582.2:c.114C>G, XM_017003582.1:c.114C>T, XM_017003582.1:c.114C>G, NP_005226.1:p.Asp245Glu, NP_001036064.1:p.Asp245Glu, XP_006712427.1:p.Asp245Glu, XP_005246433.1:p.Asp245Glu, XP_005246434.1:p.Asp245Glu, XP_016859066.1:p.Asp271Glu, XP_016859067.1:p.Asp271Glu, XP_016859068.1:p.Asp271Glu, XP_016859069.1:p.Asp271Glu, XP_016859070.1:p.Asp271Glu, XP_016859071.1:p.Asp38Glu

                          13.

                          rs1482866370 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            2:211704104 (GRCh38)
                            2:212568829 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:211704103:C:G,NC_000002.12:211704103:C:T
                            Gene:
                            ERBB4 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.211704104C>G, NC_000002.12:g.211704104C>T, NC_000002.11:g.212568829C>G, NC_000002.11:g.212568829C>T, NG_011805.2:g.839525G>C, NG_011805.2:g.839525G>A, NM_005235.3:c.1289G>C, NM_005235.3:c.1289G>A, NM_005235.2:c.1289G>C, NM_005235.2:c.1289G>A, NM_001042599.1:c.1289G>C, NM_001042599.1:c.1289G>A, XM_006712364.4:c.1289G>C, XM_006712364.4:c.1289G>A, XM_006712364.3:c.1289G>C, XM_006712364.3:c.1289G>A, XM_006712364.2:c.1289G>C, XM_006712364.2:c.1289G>A, XM_006712364.1:c.1289G>C, XM_006712364.1:c.1289G>A, XM_005246376.4:c.1289G>C, XM_005246376.4:c.1289G>A, XM_005246376.3:c.1289G>C, XM_005246376.3:c.1289G>A, XM_005246376.2:c.1289G>C, XM_005246376.2:c.1289G>A, XM_005246376.1:c.1289G>C, XM_005246376.1:c.1289G>A, XM_005246377.4:c.1289G>C, XM_005246377.4:c.1289G>A, XM_005246377.3:c.1289G>C, XM_005246377.3:c.1289G>A, XM_005246377.2:c.1289G>C, XM_005246377.2:c.1289G>A, XM_005246377.1:c.1289G>C, XM_005246377.1:c.1289G>A, XM_017003577.3:c.1367G>C, XM_017003577.3:c.1367G>A, XM_017003577.2:c.1367G>C, XM_017003577.2:c.1367G>A, XM_017003577.1:c.1367G>C, XM_017003577.1:c.1367G>A, XM_017003578.3:c.1367G>C, XM_017003578.3:c.1367G>A, XM_017003578.2:c.1367G>C, XM_017003578.2:c.1367G>A, XM_017003578.1:c.1367G>C, XM_017003578.1:c.1367G>A, XM_017003579.3:c.1367G>C, XM_017003579.3:c.1367G>A, XM_017003579.2:c.1367G>C, XM_017003579.2:c.1367G>A, XM_017003579.1:c.1367G>C, XM_017003579.1:c.1367G>A, XM_017003580.3:c.1367G>C, XM_017003580.3:c.1367G>A, XM_017003580.2:c.1367G>C, XM_017003580.2:c.1367G>A, XM_017003580.1:c.1367G>C, XM_017003580.1:c.1367G>A, XM_017003581.3:c.1367G>C, XM_017003581.3:c.1367G>A, XM_017003581.2:c.1367G>C, XM_017003581.2:c.1367G>A, XM_017003581.1:c.1367G>C, XM_017003581.1:c.1367G>A, XM_017003582.2:c.668G>C, XM_017003582.2:c.668G>A, XM_017003582.1:c.668G>C, XM_017003582.1:c.668G>A, NP_005226.1:p.Ser430Thr, NP_005226.1:p.Ser430Asn, NP_001036064.1:p.Ser430Thr, NP_001036064.1:p.Ser430Asn, XP_006712427.1:p.Ser430Thr, XP_006712427.1:p.Ser430Asn, XP_005246433.1:p.Ser430Thr, XP_005246433.1:p.Ser430Asn, XP_005246434.1:p.Ser430Thr, XP_005246434.1:p.Ser430Asn, XP_016859066.1:p.Ser456Thr, XP_016859066.1:p.Ser456Asn, XP_016859067.1:p.Ser456Thr, XP_016859067.1:p.Ser456Asn, XP_016859068.1:p.Ser456Thr, XP_016859068.1:p.Ser456Asn, XP_016859069.1:p.Ser456Thr, XP_016859069.1:p.Ser456Asn, XP_016859070.1:p.Ser456Thr, XP_016859070.1:p.Ser456Asn, XP_016859071.1:p.Ser223Thr, XP_016859071.1:p.Ser223Asn

                            14.

                            rs1481561768 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              2:211561966 (GRCh38)
                              2:212426691 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:211561965:G:C,NC_000002.12:211561965:G:T
                              Gene:
                              ERBB4 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000062/2 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000002.12:g.211561966G>C, NC_000002.12:g.211561966G>T, NC_000002.11:g.212426691G>C, NC_000002.11:g.212426691G>T, NG_011805.2:g.981663C>G, NG_011805.2:g.981663C>A, NM_005235.3:c.2424C>G, NM_005235.3:c.2424C>A, NM_005235.2:c.2424C>G, NM_005235.2:c.2424C>A, NM_001042599.1:c.2424C>G, NM_001042599.1:c.2424C>A, XM_006712364.4:c.2469C>G, XM_006712364.4:c.2469C>A, XM_006712364.3:c.2469C>G, XM_006712364.3:c.2469C>A, XM_006712364.2:c.2469C>G, XM_006712364.2:c.2469C>A, XM_006712364.1:c.2469C>G, XM_006712364.1:c.2469C>A, XM_005246376.4:c.2394C>G, XM_005246376.4:c.2394C>A, XM_005246376.3:c.2394C>G, XM_005246376.3:c.2394C>A, XM_005246376.2:c.2394C>G, XM_005246376.2:c.2394C>A, XM_005246376.1:c.2394C>G, XM_005246376.1:c.2394C>A, XM_005246377.4:c.2394C>G, XM_005246377.4:c.2394C>A, XM_005246377.3:c.2394C>G, XM_005246377.3:c.2394C>A, XM_005246377.2:c.2394C>G, XM_005246377.2:c.2394C>A, XM_005246377.1:c.2394C>G, XM_005246377.1:c.2394C>A, XM_017003577.3:c.2547C>G, XM_017003577.3:c.2547C>A, XM_017003577.2:c.2547C>G, XM_017003577.2:c.2547C>A, XM_017003577.1:c.2547C>G, XM_017003577.1:c.2547C>A, XM_017003578.3:c.2502C>G, XM_017003578.3:c.2502C>A, XM_017003578.2:c.2502C>G, XM_017003578.2:c.2502C>A, XM_017003578.1:c.2502C>G, XM_017003578.1:c.2502C>A, XM_017003579.3:c.2547C>G, XM_017003579.3:c.2547C>A, XM_017003579.2:c.2547C>G, XM_017003579.2:c.2547C>A, XM_017003579.1:c.2547C>G, XM_017003579.1:c.2547C>A, XM_017003580.3:c.2472C>G, XM_017003580.3:c.2472C>A, XM_017003580.2:c.2472C>G, XM_017003580.2:c.2472C>A, XM_017003580.1:c.2472C>G, XM_017003580.1:c.2472C>A, XM_017003581.3:c.2502C>G, XM_017003581.3:c.2502C>A, XM_017003581.2:c.2502C>G, XM_017003581.2:c.2502C>A, XM_017003581.1:c.2502C>G, XM_017003581.1:c.2502C>A, XM_017003582.2:c.1848C>G, XM_017003582.2:c.1848C>A, XM_017003582.1:c.1848C>G, XM_017003582.1:c.1848C>A

                              15.

                              rs1480577684 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:211430976 (GRCh38)
                                2:212295701 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:211430975:T:C
                                Gene:
                                ERBB4 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.211430976T>C, NC_000002.11:g.212295701T>C, NG_011805.2:g.1112653A>G, NM_005235.3:c.2612A>G, NM_005235.2:c.2612A>G, NM_001042599.1:c.2612A>G, XM_006712364.4:c.2657A>G, XM_006712364.3:c.2657A>G, XM_006712364.2:c.2657A>G, XM_006712364.1:c.2657A>G, XM_005246376.4:c.2582A>G, XM_005246376.3:c.2582A>G, XM_005246376.2:c.2582A>G, XM_005246376.1:c.2582A>G, XM_005246377.4:c.2582A>G, XM_005246377.3:c.2582A>G, XM_005246377.2:c.2582A>G, XM_005246377.1:c.2582A>G, XM_017003577.3:c.2735A>G, XM_017003577.2:c.2735A>G, XM_017003577.1:c.2735A>G, XM_017003578.3:c.2690A>G, XM_017003578.2:c.2690A>G, XM_017003578.1:c.2690A>G, XM_017003579.3:c.2735A>G, XM_017003579.2:c.2735A>G, XM_017003579.1:c.2735A>G, XM_017003580.3:c.2660A>G, XM_017003580.2:c.2660A>G, XM_017003580.1:c.2660A>G, XM_017003581.3:c.2690A>G, XM_017003581.2:c.2690A>G, XM_017003581.1:c.2690A>G, XM_017003582.2:c.2036A>G, XM_017003582.1:c.2036A>G, NP_005226.1:p.Asp871Gly, NP_001036064.1:p.Asp871Gly, XP_006712427.1:p.Asp886Gly, XP_005246433.1:p.Asp861Gly, XP_005246434.1:p.Asp861Gly, XP_016859066.1:p.Asp912Gly, XP_016859067.1:p.Asp897Gly, XP_016859068.1:p.Asp912Gly, XP_016859069.1:p.Asp887Gly, XP_016859070.1:p.Asp897Gly, XP_016859071.1:p.Asp679Gly

                                16.

                                rs1480034665 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C,T [Show Flanks]
                                  Chromosome:
                                  2:211383725 (GRCh38)
                                  2:212248450 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:211383724:G:A,NC_000002.12:211383724:G:C,NC_000002.12:211383724:G:T
                                  Gene:
                                  ERBB4 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000012/3 (GnomAD_exomes)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000142/2 (TOMMO)
                                  HGVS:
                                  NC_000002.12:g.211383725G>A, NC_000002.12:g.211383725G>C, NC_000002.12:g.211383725G>T, NC_000002.11:g.212248450G>A, NC_000002.11:g.212248450G>C, NC_000002.11:g.212248450G>T, NG_011805.2:g.1159904C>T, NG_011805.2:g.1159904C>G, NG_011805.2:g.1159904C>A, NM_005235.3:c.3817C>T, NM_005235.3:c.3817C>G, NM_005235.3:c.3817C>A, NM_005235.2:c.3817C>T, NM_005235.2:c.3817C>G, NM_005235.2:c.3817C>A, NM_001042599.1:c.3769C>T, NM_001042599.1:c.3769C>G, NM_001042599.1:c.3769C>A, XM_006712364.4:c.3862C>T, XM_006712364.4:c.3862C>G, XM_006712364.4:c.3862C>A, XM_006712364.3:c.3862C>T, XM_006712364.3:c.3862C>G, XM_006712364.3:c.3862C>A, XM_006712364.2:c.3862C>T, XM_006712364.2:c.3862C>G, XM_006712364.2:c.3862C>A, XM_006712364.1:c.3862C>T, XM_006712364.1:c.3862C>G, XM_006712364.1:c.3862C>A, XM_005246376.4:c.3787C>T, XM_005246376.4:c.3787C>G, XM_005246376.4:c.3787C>A, XM_005246376.3:c.3787C>T, XM_005246376.3:c.3787C>G, XM_005246376.3:c.3787C>A, XM_005246376.2:c.3787C>T, XM_005246376.2:c.3787C>G, XM_005246376.2:c.3787C>A, XM_005246376.1:c.3787C>T, XM_005246376.1:c.3787C>G, XM_005246376.1:c.3787C>A, XM_005246377.4:c.3739C>T, XM_005246377.4:c.3739C>G, XM_005246377.4:c.3739C>A, XM_005246377.3:c.3739C>T, XM_005246377.3:c.3739C>G, XM_005246377.3:c.3739C>A, XM_005246377.2:c.3739C>T, XM_005246377.2:c.3739C>G, XM_005246377.2:c.3739C>A, XM_005246377.1:c.3739C>T, XM_005246377.1:c.3739C>G, XM_005246377.1:c.3739C>A, XM_017003577.3:c.3940C>T, XM_017003577.3:c.3940C>G, XM_017003577.3:c.3940C>A, XM_017003577.2:c.3940C>T, XM_017003577.2:c.3940C>G, XM_017003577.2:c.3940C>A, XM_017003577.1:c.3940C>T, XM_017003577.1:c.3940C>G, XM_017003577.1:c.3940C>A, XM_017003578.3:c.3895C>T, XM_017003578.3:c.3895C>G, XM_017003578.3:c.3895C>A, XM_017003578.2:c.3895C>T, XM_017003578.2:c.3895C>G, XM_017003578.2:c.3895C>A, XM_017003578.1:c.3895C>T, XM_017003578.1:c.3895C>G, XM_017003578.1:c.3895C>A, XM_017003579.3:c.3892C>T, XM_017003579.3:c.3892C>G, XM_017003579.3:c.3892C>A, XM_017003579.2:c.3892C>T, XM_017003579.2:c.3892C>G, XM_017003579.2:c.3892C>A, XM_017003579.1:c.3892C>T, XM_017003579.1:c.3892C>G, XM_017003579.1:c.3892C>A, XM_017003580.3:c.3865C>T, XM_017003580.3:c.3865C>G, XM_017003580.3:c.3865C>A, XM_017003580.2:c.3865C>T, XM_017003580.2:c.3865C>G, XM_017003580.2:c.3865C>A, XM_017003580.1:c.3865C>T, XM_017003580.1:c.3865C>G, XM_017003580.1:c.3865C>A, XM_017003581.3:c.3847C>T, XM_017003581.3:c.3847C>G, XM_017003581.3:c.3847C>A, XM_017003581.2:c.3847C>T, XM_017003581.2:c.3847C>G, XM_017003581.2:c.3847C>A, XM_017003581.1:c.3847C>T, XM_017003581.1:c.3847C>G, XM_017003581.1:c.3847C>A, XM_017003582.2:c.3241C>T, XM_017003582.2:c.3241C>G, XM_017003582.2:c.3241C>A, XM_017003582.1:c.3241C>T, XM_017003582.1:c.3241C>G, XM_017003582.1:c.3241C>A, NP_005226.1:p.Arg1273Trp, NP_005226.1:p.Arg1273Gly, NP_001036064.1:p.Arg1257Trp, NP_001036064.1:p.Arg1257Gly, XP_006712427.1:p.Arg1288Trp, XP_006712427.1:p.Arg1288Gly, XP_005246433.1:p.Arg1263Trp, XP_005246433.1:p.Arg1263Gly, XP_005246434.1:p.Arg1247Trp, XP_005246434.1:p.Arg1247Gly, XP_016859066.1:p.Arg1314Trp, XP_016859066.1:p.Arg1314Gly, XP_016859067.1:p.Arg1299Trp, XP_016859067.1:p.Arg1299Gly, XP_016859068.1:p.Arg1298Trp, XP_016859068.1:p.Arg1298Gly, XP_016859069.1:p.Arg1289Trp, XP_016859069.1:p.Arg1289Gly, XP_016859070.1:p.Arg1283Trp, XP_016859070.1:p.Arg1283Gly, XP_016859071.1:p.Arg1081Trp, XP_016859071.1:p.Arg1081Gly

                                  17.

                                  rs1478571014 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:211420529 (GRCh38)
                                    2:212285254 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:211420528:A:G
                                    Gene:
                                    ERBB4 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000056/2 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000019/5 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.211420529A>G, NC_000002.11:g.212285254A>G, NG_011805.2:g.1123100T>C, NM_005235.3:c.3047T>C, NM_005235.2:c.3047T>C, NM_001042599.1:c.3047T>C, XM_006712364.4:c.3092T>C, XM_006712364.3:c.3092T>C, XM_006712364.2:c.3092T>C, XM_006712364.1:c.3092T>C, XM_005246376.4:c.3017T>C, XM_005246376.3:c.3017T>C, XM_005246376.2:c.3017T>C, XM_005246376.1:c.3017T>C, XM_005246377.4:c.3017T>C, XM_005246377.3:c.3017T>C, XM_005246377.2:c.3017T>C, XM_005246377.1:c.3017T>C, XM_017003577.3:c.3170T>C, XM_017003577.2:c.3170T>C, XM_017003577.1:c.3170T>C, XM_017003578.3:c.3125T>C, XM_017003578.2:c.3125T>C, XM_017003578.1:c.3125T>C, XM_017003579.3:c.3170T>C, XM_017003579.2:c.3170T>C, XM_017003579.1:c.3170T>C, XM_017003580.3:c.3095T>C, XM_017003580.2:c.3095T>C, XM_017003580.1:c.3095T>C, XM_017003581.3:c.3125T>C, XM_017003581.2:c.3125T>C, XM_017003581.1:c.3125T>C, XM_017003582.2:c.2471T>C, XM_017003582.1:c.2471T>C, NP_005226.1:p.Met1016Thr, NP_001036064.1:p.Met1016Thr, XP_006712427.1:p.Met1031Thr, XP_005246433.1:p.Met1006Thr, XP_005246434.1:p.Met1006Thr, XP_016859066.1:p.Met1057Thr, XP_016859067.1:p.Met1042Thr, XP_016859068.1:p.Met1057Thr, XP_016859069.1:p.Met1032Thr, XP_016859070.1:p.Met1042Thr, XP_016859071.1:p.Met824Thr

                                    18.

                                    rs1478394764 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      2:212538495 (GRCh38)
                                      2:213403219 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:212538494:G:C,NC_000002.12:212538494:G:T
                                      Gene:
                                      ERBB4 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.212538495G>C, NC_000002.12:g.212538495G>T, NC_000002.11:g.213403219G>C, NC_000002.11:g.213403219G>T, NG_011805.2:g.5134C>G, NG_011805.2:g.5134C>A, NM_005235.3:c.36C>G, NM_005235.3:c.36C>A, NM_005235.2:c.36C>G, NM_005235.2:c.36C>A, NM_001042599.1:c.36C>G, NM_001042599.1:c.36C>A, XM_006712364.4:c.36C>G, XM_006712364.4:c.36C>A, XM_006712364.3:c.36C>G, XM_006712364.3:c.36C>A, XM_006712364.2:c.36C>G, XM_006712364.2:c.36C>A, XM_006712364.1:c.36C>G, XM_006712364.1:c.36C>A, XM_005246376.4:c.36C>G, XM_005246376.4:c.36C>A, XM_005246376.3:c.36C>G, XM_005246376.3:c.36C>A, XM_005246376.2:c.36C>G, XM_005246376.2:c.36C>A, XM_005246376.1:c.36C>G, XM_005246376.1:c.36C>A, XM_005246377.4:c.36C>G, XM_005246377.4:c.36C>A, XM_005246377.3:c.36C>G, XM_005246377.3:c.36C>A, XM_005246377.2:c.36C>G, XM_005246377.2:c.36C>A, XM_005246377.1:c.36C>G, XM_005246377.1:c.36C>A, XM_017003577.3:c.36C>G, XM_017003577.3:c.36C>A, XM_017003577.2:c.36C>G, XM_017003577.2:c.36C>A, XM_017003577.1:c.36C>G, XM_017003577.1:c.36C>A, XM_017003578.3:c.36C>G, XM_017003578.3:c.36C>A, XM_017003578.2:c.36C>G, XM_017003578.2:c.36C>A, XM_017003578.1:c.36C>G, XM_017003578.1:c.36C>A, XM_017003579.3:c.36C>G, XM_017003579.3:c.36C>A, XM_017003579.2:c.36C>G, XM_017003579.2:c.36C>A, XM_017003579.1:c.36C>G, XM_017003579.1:c.36C>A, XM_017003580.3:c.36C>G, XM_017003580.3:c.36C>A, XM_017003580.2:c.36C>G, XM_017003580.2:c.36C>A, XM_017003580.1:c.36C>G, XM_017003580.1:c.36C>A, XM_017003581.3:c.36C>G, XM_017003581.3:c.36C>A, XM_017003581.2:c.36C>G, XM_017003581.2:c.36C>A, XM_017003581.1:c.36C>G, XM_017003581.1:c.36C>A, NP_005226.1:p.Ser12Arg, NP_005226.1:p.Ser12Arg, NP_001036064.1:p.Ser12Arg, NP_001036064.1:p.Ser12Arg, XP_006712427.1:p.Ser12Arg, XP_006712427.1:p.Ser12Arg, XP_005246433.1:p.Ser12Arg, XP_005246433.1:p.Ser12Arg, XP_005246434.1:p.Ser12Arg, XP_005246434.1:p.Ser12Arg, XP_016859066.1:p.Ser12Arg, XP_016859066.1:p.Ser12Arg, XP_016859067.1:p.Ser12Arg, XP_016859067.1:p.Ser12Arg, XP_016859068.1:p.Ser12Arg, XP_016859068.1:p.Ser12Arg, XP_016859069.1:p.Ser12Arg, XP_016859069.1:p.Ser12Arg, XP_016859070.1:p.Ser12Arg, XP_016859070.1:p.Ser12Arg

                                      19.

                                      rs1476386458 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        2:211725122 (GRCh38)
                                        2:212589847 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:211725121:C:A,NC_000002.12:211725121:C:G,NC_000002.12:211725121:C:T
                                        Gene:
                                        ERBB4 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000111/1 (ALFA)
                                        T=0.000008/2 (GnomAD_exomes)
                                        T=0.000014/2 (GnomAD)
                                        T=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000002.12:g.211725122C>A, NC_000002.12:g.211725122C>G, NC_000002.12:g.211725122C>T, NC_000002.11:g.212589847C>A, NC_000002.11:g.212589847C>G, NC_000002.11:g.212589847C>T, NG_011805.2:g.818507G>T, NG_011805.2:g.818507G>C, NG_011805.2:g.818507G>A, NM_005235.3:c.695G>T, NM_005235.3:c.695G>C, NM_005235.3:c.695G>A, NM_005235.2:c.695G>T, NM_005235.2:c.695G>C, NM_005235.2:c.695G>A, NM_001042599.1:c.695G>T, NM_001042599.1:c.695G>C, NM_001042599.1:c.695G>A, XM_006712364.4:c.695G>T, XM_006712364.4:c.695G>C, XM_006712364.4:c.695G>A, XM_006712364.3:c.695G>T, XM_006712364.3:c.695G>C, XM_006712364.3:c.695G>A, XM_006712364.2:c.695G>T, XM_006712364.2:c.695G>C, XM_006712364.2:c.695G>A, XM_006712364.1:c.695G>T, XM_006712364.1:c.695G>C, XM_006712364.1:c.695G>A, XM_005246376.4:c.695G>T, XM_005246376.4:c.695G>C, XM_005246376.4:c.695G>A, XM_005246376.3:c.695G>T, XM_005246376.3:c.695G>C, XM_005246376.3:c.695G>A, XM_005246376.2:c.695G>T, XM_005246376.2:c.695G>C, XM_005246376.2:c.695G>A, XM_005246376.1:c.695G>T, XM_005246376.1:c.695G>C, XM_005246376.1:c.695G>A, XM_005246377.4:c.695G>T, XM_005246377.4:c.695G>C, XM_005246377.4:c.695G>A, XM_005246377.3:c.695G>T, XM_005246377.3:c.695G>C, XM_005246377.3:c.695G>A, XM_005246377.2:c.695G>T, XM_005246377.2:c.695G>C, XM_005246377.2:c.695G>A, XM_005246377.1:c.695G>T, XM_005246377.1:c.695G>C, XM_005246377.1:c.695G>A, XM_017003577.3:c.773G>T, XM_017003577.3:c.773G>C, XM_017003577.3:c.773G>A, XM_017003577.2:c.773G>T, XM_017003577.2:c.773G>C, XM_017003577.2:c.773G>A, XM_017003577.1:c.773G>T, XM_017003577.1:c.773G>C, XM_017003577.1:c.773G>A, XM_017003578.3:c.773G>T, XM_017003578.3:c.773G>C, XM_017003578.3:c.773G>A, XM_017003578.2:c.773G>T, XM_017003578.2:c.773G>C, XM_017003578.2:c.773G>A, XM_017003578.1:c.773G>T, XM_017003578.1:c.773G>C, XM_017003578.1:c.773G>A, XM_017003579.3:c.773G>T, XM_017003579.3:c.773G>C, XM_017003579.3:c.773G>A, XM_017003579.2:c.773G>T, XM_017003579.2:c.773G>C, XM_017003579.2:c.773G>A, XM_017003579.1:c.773G>T, XM_017003579.1:c.773G>C, XM_017003579.1:c.773G>A, XM_017003580.3:c.773G>T, XM_017003580.3:c.773G>C, XM_017003580.3:c.773G>A, XM_017003580.2:c.773G>T, XM_017003580.2:c.773G>C, XM_017003580.2:c.773G>A, XM_017003580.1:c.773G>T, XM_017003580.1:c.773G>C, XM_017003580.1:c.773G>A, XM_017003581.3:c.773G>T, XM_017003581.3:c.773G>C, XM_017003581.3:c.773G>A, XM_017003581.2:c.773G>T, XM_017003581.2:c.773G>C, XM_017003581.2:c.773G>A, XM_017003581.1:c.773G>T, XM_017003581.1:c.773G>C, XM_017003581.1:c.773G>A, XM_017003582.2:c.74G>T, XM_017003582.2:c.74G>C, XM_017003582.2:c.74G>A, XM_017003582.1:c.74G>T, XM_017003582.1:c.74G>C, XM_017003582.1:c.74G>A, NP_005226.1:p.Arg232Leu, NP_005226.1:p.Arg232Pro, NP_005226.1:p.Arg232Gln, NP_001036064.1:p.Arg232Leu, NP_001036064.1:p.Arg232Pro, NP_001036064.1:p.Arg232Gln, XP_006712427.1:p.Arg232Leu, XP_006712427.1:p.Arg232Pro, XP_006712427.1:p.Arg232Gln, XP_005246433.1:p.Arg232Leu, XP_005246433.1:p.Arg232Pro, XP_005246433.1:p.Arg232Gln, XP_005246434.1:p.Arg232Leu, XP_005246434.1:p.Arg232Pro, XP_005246434.1:p.Arg232Gln, XP_016859066.1:p.Arg258Leu, XP_016859066.1:p.Arg258Pro, XP_016859066.1:p.Arg258Gln, XP_016859067.1:p.Arg258Leu, XP_016859067.1:p.Arg258Pro, XP_016859067.1:p.Arg258Gln, XP_016859068.1:p.Arg258Leu, XP_016859068.1:p.Arg258Pro, XP_016859068.1:p.Arg258Gln, XP_016859069.1:p.Arg258Leu, XP_016859069.1:p.Arg258Pro, XP_016859069.1:p.Arg258Gln, XP_016859070.1:p.Arg258Leu, XP_016859070.1:p.Arg258Pro, XP_016859070.1:p.Arg258Gln, XP_016859071.1:p.Arg25Leu, XP_016859071.1:p.Arg25Pro, XP_016859071.1:p.Arg25Gln

                                        20.

                                        rs1474755767 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:211788026 (GRCh38)
                                          2:212652751 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:211788025:T:C
                                          Gene:
                                          ERBB4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.211788026T>C, NC_000002.11:g.212652751T>C, NG_011805.2:g.755603A>G, NM_005235.3:c.555A>G, NM_005235.2:c.555A>G, NM_001042599.1:c.555A>G, XM_006712364.4:c.555A>G, XM_006712364.3:c.555A>G, XM_006712364.2:c.555A>G, XM_006712364.1:c.555A>G, XM_005246376.4:c.555A>G, XM_005246376.3:c.555A>G, XM_005246376.2:c.555A>G, XM_005246376.1:c.555A>G, XM_005246377.4:c.555A>G, XM_005246377.3:c.555A>G, XM_005246377.2:c.555A>G, XM_005246377.1:c.555A>G, XM_017003577.3:c.555A>G, XM_017003577.2:c.555A>G, XM_017003577.1:c.555A>G, XM_017003578.3:c.555A>G, XM_017003578.2:c.555A>G, XM_017003578.1:c.555A>G, XM_017003579.3:c.555A>G, XM_017003579.2:c.555A>G, XM_017003579.1:c.555A>G, XM_017003580.3:c.555A>G, XM_017003580.2:c.555A>G, XM_017003580.1:c.555A>G, XM_017003581.3:c.555A>G, XM_017003581.2:c.555A>G, XM_017003581.1:c.555A>G

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