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Items: 1 to 20 of 1415

1.

rs1490101752 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    16:76448186 (GRCh38)
    16:76482083 (GRCh37)
    Canonical SPDI:
    NC_000016.10:76448185:G:C
    Gene:
    CNTNAP4 (Varview)
    Functional Consequence:
    coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000016.10:g.76448186G>C, NC_000016.9:g.76482083G>C, NM_033401.5:c.713G>C, NM_033401.4:c.713G>C, NM_033401.3:c.713G>C, NM_138994.5:c.638G>C, NM_138994.4:c.638G>C, NM_138994.3:c.638G>C, XM_011523403.3:c.638G>C, XM_011523403.2:c.638G>C, XM_011523403.1:c.638G>C, NM_001322189.2:c.449G>C, NM_001322189.1:c.449G>C, NR_136216.2:n.975G>C, NR_136216.1:n.1159G>C, NR_136210.2:n.975G>C, NR_136210.1:n.1159G>C, NM_001322187.2:c.-769G>C, NM_001322187.1:c.-769G>C, NR_136213.2:n.975G>C, NR_136213.1:n.1159G>C, NM_001322181.2:c.710G>C, NM_001322181.1:c.710G>C, NM_001322188.2:c.713G>C, NM_001322188.1:c.713G>C, NM_001322190.2:c.713G>C, NM_001322190.1:c.713G>C, NM_001322178.2:c.713G>C, NM_001322178.1:c.713G>C, NM_001322180.2:c.326G>C, NM_001322180.1:c.326G>C, NM_001322191.2:c.-210G>C, NM_001322191.1:c.-210G>C, NM_001322179.2:c.713G>C, NM_001322179.1:c.713G>C, XM_047434819.1:c.713G>C, NP_207837.2:p.Arg238Thr, NP_620481.2:p.Arg213Thr, XP_011521705.1:p.Arg213Thr, NP_001309118.1:p.Arg150Thr, NP_001309110.1:p.Arg237Thr, NP_001309117.1:p.Arg238Thr, NP_001309119.1:p.Arg238Thr, NP_001309107.1:p.Arg238Thr, NP_001309109.1:p.Arg109Thr, NP_001309108.1:p.Arg238Thr, XP_047290775.1:p.Arg238Thr

    2.

    rs1490029052 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:76355426 (GRCh38)
      16:76389323 (GRCh37)
      Canonical SPDI:
      NC_000016.10:76355425:G:A
      Gene:
      CNTNAP4 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.76355426G>A, NC_000016.9:g.76389323G>A, NM_033401.5:c.305G>A, NM_033401.4:c.305G>A, NM_033401.3:c.305G>A, NM_138994.5:c.230G>A, NM_138994.4:c.230G>A, NM_138994.3:c.230G>A, XM_011523403.3:c.230G>A, XM_011523403.2:c.230G>A, XM_011523403.1:c.230G>A, NM_001322189.2:c.41G>A, NM_001322189.1:c.41G>A, NR_136216.2:n.567G>A, NR_136216.1:n.751G>A, NR_136210.2:n.567G>A, NR_136210.1:n.751G>A, NM_001322187.2:c.-1177G>A, NM_001322187.1:c.-1177G>A, NR_136213.2:n.567G>A, NR_136213.1:n.751G>A, NM_001322181.2:c.302G>A, NM_001322181.1:c.302G>A, NM_001322188.2:c.305G>A, NM_001322188.1:c.305G>A, NM_001322190.2:c.305G>A, NM_001322190.1:c.305G>A, NM_001322178.2:c.305G>A, NM_001322178.1:c.305G>A, NM_001322179.2:c.305G>A, NM_001322179.1:c.305G>A, XM_047434819.1:c.305G>A, NP_207837.2:p.Ser102Asn, NP_620481.2:p.Ser77Asn, XP_011521705.1:p.Ser77Asn, NP_001309118.1:p.Ser14Asn, NP_001309110.1:p.Ser101Asn, NP_001309117.1:p.Ser102Asn, NP_001309119.1:p.Ser102Asn, NP_001309107.1:p.Ser102Asn, NP_001309108.1:p.Ser102Asn, XP_047290775.1:p.Ser102Asn

      3.

      rs1489230454 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:76535748 (GRCh38)
        16:76569645 (GRCh37)
        Canonical SPDI:
        NC_000016.10:76535747:A:G
        Gene:
        CNTNAP4 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000016.10:g.76535748A>G, NC_000016.9:g.76569645A>G, NM_033401.5:c.2959A>G, NM_033401.4:c.2959A>G, NM_033401.3:c.2959A>G, NM_138994.5:c.2740A>G, NM_138994.4:c.2740A>G, NM_138994.3:c.2740A>G, XM_011523403.3:c.2884A>G, XM_011523403.2:c.2884A>G, XM_011523403.1:c.2884A>G, NM_001322189.2:c.2695A>G, NM_001322189.1:c.2695A>G, NR_136216.2:n.3450A>G, NR_136216.1:n.3634A>G, NR_136210.2:n.3221A>G, NR_136210.1:n.3405A>G, NM_001322187.2:c.1543A>G, NM_001322187.1:c.1543A>G, NR_136213.2:n.3262A>G, NR_136213.1:n.3446A>G, NM_001322181.2:c.2956A>G, NM_001322181.1:c.2956A>G, NM_001322188.2:c.2959A>G, NM_001322188.1:c.2959A>G, NM_001322190.2:c.2815A>G, NM_001322190.1:c.2815A>G, NM_001322178.2:c.2809A>G, NM_001322178.1:c.2809A>G, NM_001322180.2:c.2572A>G, NM_001322180.1:c.2572A>G, NM_001322191.2:c.2032A>G, NM_001322191.1:c.2032A>G, NP_207837.2:p.Thr987Ala, NP_620481.2:p.Thr914Ala, XP_011521705.1:p.Thr962Ala, NP_001309118.1:p.Thr899Ala, NP_001309116.1:p.Thr515Ala, NP_001309110.1:p.Thr986Ala, NP_001309117.1:p.Thr987Ala, NP_001309119.1:p.Thr939Ala, NP_001309107.1:p.Thr937Ala, NP_001309109.1:p.Thr858Ala, NP_001309120.1:p.Thr678Ala

        4.

        rs1487447344 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          16:76539751 (GRCh38)
          16:76573648 (GRCh37)
          Canonical SPDI:
          NC_000016.10:76539750:T:C
          Gene:
          CNTNAP4 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (TOPMED)
          HGVS:
          NC_000016.10:g.76539751T>C, NC_000016.9:g.76573648T>C, NM_033401.5:c.3253T>C, NM_033401.4:c.3253T>C, NM_033401.3:c.3253T>C, NM_138994.5:c.3034T>C, NM_138994.4:c.3034T>C, NM_138994.3:c.3034T>C, XM_011523403.3:c.3178T>C, XM_011523403.2:c.3178T>C, XM_011523403.1:c.3178T>C, NM_001322189.2:c.2989T>C, NM_001322189.1:c.2989T>C, NR_136216.2:n.3744T>C, NR_136216.1:n.3928T>C, NR_136210.2:n.3515T>C, NR_136210.1:n.3699T>C, NM_001322187.2:c.1837T>C, NM_001322187.1:c.1837T>C, NR_136213.2:n.3556T>C, NR_136213.1:n.3740T>C, NM_001322181.2:c.3250T>C, NM_001322181.1:c.3250T>C, NM_001322188.2:c.3253T>C, NM_001322188.1:c.3253T>C, NM_001322190.2:c.3109T>C, NM_001322190.1:c.3109T>C, NM_001322178.2:c.3103T>C, NM_001322178.1:c.3103T>C, NM_001322180.2:c.2866T>C, NM_001322180.1:c.2866T>C, NM_001322191.2:c.2326T>C, NM_001322191.1:c.2326T>C, NM_001322179.2:c.3013T>C, NM_001322179.1:c.3013T>C, NP_207837.2:p.Tyr1085His, NP_620481.2:p.Tyr1012His, XP_011521705.1:p.Tyr1060His, NP_001309118.1:p.Tyr997His, NP_001309116.1:p.Tyr613His, NP_001309110.1:p.Tyr1084His, NP_001309117.1:p.Tyr1085His, NP_001309119.1:p.Tyr1037His, NP_001309107.1:p.Tyr1035His, NP_001309109.1:p.Tyr956His, NP_001309120.1:p.Tyr776His, NP_001309108.1:p.Tyr1005His

          5.

          rs1486372723 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            16:76479426 (GRCh38)
            16:76513323 (GRCh37)
            Canonical SPDI:
            NC_000016.10:76479425:T:G
            Gene:
            CNTNAP4 (Varview)
            Functional Consequence:
            coding_sequence_variant,stop_gained,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000016.10:g.76479426T>G, NC_000016.9:g.76513323T>G, NM_033401.5:c.1770T>G, NM_033401.4:c.1770T>G, NM_033401.3:c.1770T>G, NM_138994.5:c.1551T>G, NM_138994.4:c.1551T>G, NM_138994.3:c.1551T>G, XM_011523403.3:c.1695T>G, XM_011523403.2:c.1695T>G, XM_011523403.1:c.1695T>G, NM_001322189.2:c.1506T>G, NM_001322189.1:c.1506T>G, NR_136216.2:n.2215T>G, NR_136216.1:n.2399T>G, NR_136210.2:n.2032T>G, NR_136210.1:n.2216T>G, NM_001322187.2:c.354T>G, NM_001322187.1:c.354T>G, NR_136213.2:n.2027T>G, NR_136213.1:n.2211T>G, NM_001322181.2:c.1767T>G, NM_001322181.1:c.1767T>G, NM_001322188.2:c.1770T>G, NM_001322188.1:c.1770T>G, NM_001322190.2:c.1626T>G, NM_001322190.1:c.1626T>G, NM_001322178.2:c.1620T>G, NM_001322178.1:c.1620T>G, NM_001322180.2:c.1383T>G, NM_001322180.1:c.1383T>G, NM_001322191.2:c.843T>G, NM_001322191.1:c.843T>G, NM_001322179.2:c.1770T>G, NM_001322179.1:c.1770T>G, XM_047434819.1:c.1770T>G, NP_207837.2:p.Tyr590Ter, NP_620481.2:p.Tyr517Ter, XP_011521705.1:p.Tyr565Ter, NP_001309118.1:p.Tyr502Ter, NP_001309116.1:p.Tyr118Ter, NP_001309110.1:p.Tyr589Ter, NP_001309117.1:p.Tyr590Ter, NP_001309119.1:p.Tyr542Ter, NP_001309107.1:p.Tyr540Ter, NP_001309109.1:p.Tyr461Ter, NP_001309120.1:p.Tyr281Ter, NP_001309108.1:p.Tyr590Ter, XP_047290775.1:p.Tyr590Ter

            6.

            rs1486228919 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              16:76498608 (GRCh38)
              16:76532505 (GRCh37)
              Canonical SPDI:
              NC_000016.10:76498607:C:A
              Gene:
              CNTNAP4 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000016.10:g.76498608C>A, NC_000016.9:g.76532505C>A, NM_033401.5:c.2279C>A, NM_033401.4:c.2279C>A, NM_033401.3:c.2279C>A, NM_138994.5:c.2060C>A, NM_138994.4:c.2060C>A, NM_138994.3:c.2060C>A, XM_011523403.3:c.2204C>A, XM_011523403.2:c.2204C>A, XM_011523403.1:c.2204C>A, NM_001322189.2:c.2015C>A, NM_001322189.1:c.2015C>A, NR_136216.2:n.2770C>A, NR_136216.1:n.2954C>A, NR_136210.2:n.2541C>A, NR_136210.1:n.2725C>A, NM_001322187.2:c.863C>A, NM_001322187.1:c.863C>A, NR_136213.2:n.2582C>A, NR_136213.1:n.2766C>A, NM_001322181.2:c.2276C>A, NM_001322181.1:c.2276C>A, NM_001322188.2:c.2279C>A, NM_001322188.1:c.2279C>A, NM_001322190.2:c.2135C>A, NM_001322190.1:c.2135C>A, NM_001322178.2:c.2129C>A, NM_001322178.1:c.2129C>A, NM_001322180.2:c.1892C>A, NM_001322180.1:c.1892C>A, NM_001322191.2:c.1352C>A, NM_001322191.1:c.1352C>A, NM_001322179.2:c.2279C>A, NM_001322179.1:c.2279C>A, NP_207837.2:p.Pro760Gln, NP_620481.2:p.Pro687Gln, XP_011521705.1:p.Pro735Gln, NP_001309118.1:p.Pro672Gln, NP_001309116.1:p.Pro288Gln, NP_001309110.1:p.Pro759Gln, NP_001309117.1:p.Pro760Gln, NP_001309119.1:p.Pro712Gln, NP_001309107.1:p.Pro710Gln, NP_001309109.1:p.Pro631Gln, NP_001309120.1:p.Pro451Gln, NP_001309108.1:p.Pro760Gln

              7.

              rs1485969730 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:76521251 (GRCh38)
                16:76555148 (GRCh37)
                Canonical SPDI:
                NC_000016.10:76521250:C:T
                Gene:
                CNTNAP4 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                T=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.76521251C>T, NC_000016.9:g.76555148C>T, NM_033401.5:c.2477C>T, NM_033401.4:c.2477C>T, NM_033401.3:c.2477C>T, NM_138994.5:c.2258C>T, NM_138994.4:c.2258C>T, NM_138994.3:c.2258C>T, XM_011523403.3:c.2402C>T, XM_011523403.2:c.2402C>T, XM_011523403.1:c.2402C>T, NM_001322189.2:c.2213C>T, NM_001322189.1:c.2213C>T, NR_136216.2:n.2968C>T, NR_136216.1:n.3152C>T, NR_136210.2:n.2739C>T, NR_136210.1:n.2923C>T, NM_001322187.2:c.1061C>T, NM_001322187.1:c.1061C>T, NR_136213.2:n.2780C>T, NR_136213.1:n.2964C>T, NM_001322181.2:c.2474C>T, NM_001322181.1:c.2474C>T, NM_001322188.2:c.2477C>T, NM_001322188.1:c.2477C>T, NM_001322190.2:c.2333C>T, NM_001322190.1:c.2333C>T, NM_001322178.2:c.2327C>T, NM_001322178.1:c.2327C>T, NM_001322180.2:c.2090C>T, NM_001322180.1:c.2090C>T, NM_001322191.2:c.1550C>T, NM_001322191.1:c.1550C>T, NM_001322179.2:c.2477C>T, NM_001322179.1:c.2477C>T, NP_207837.2:p.Ser826Leu, NP_620481.2:p.Ser753Leu, XP_011521705.1:p.Ser801Leu, NP_001309118.1:p.Ser738Leu, NP_001309116.1:p.Ser354Leu, NP_001309110.1:p.Ser825Leu, NP_001309117.1:p.Ser826Leu, NP_001309119.1:p.Ser778Leu, NP_001309107.1:p.Ser776Leu, NP_001309109.1:p.Ser697Leu, NP_001309120.1:p.Ser517Leu, NP_001309108.1:p.Ser826Leu

                8.

                rs1485517400 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  16:76540763 (GRCh38)
                  16:76574660 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:76540762:A:C
                  Gene:
                  CNTNAP4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0.000005/1 (GnomAD_exomes)
                  C=0.000546/1 (Korea1K)
                  HGVS:
                  NC_000016.10:g.76540763A>C, NC_000016.9:g.76574660A>C, NM_033401.5:c.3415A>C, NM_033401.4:c.3415A>C, NM_033401.3:c.3415A>C, NM_138994.5:c.3196A>C, NM_138994.4:c.3196A>C, NM_138994.3:c.3196A>C, XM_011523403.3:c.3340A>C, XM_011523403.2:c.3340A>C, XM_011523403.1:c.3340A>C, NM_001322189.2:c.3151A>C, NM_001322189.1:c.3151A>C, NR_136216.2:n.3906A>C, NR_136216.1:n.4090A>C, NR_136210.2:n.3677A>C, NR_136210.1:n.3861A>C, NM_001322187.2:c.1999A>C, NM_001322187.1:c.1999A>C, NR_136213.2:n.3718A>C, NR_136213.1:n.3902A>C, NM_001322181.2:c.3412A>C, NM_001322181.1:c.3412A>C, NM_001322188.2:c.3415A>C, NM_001322188.1:c.3415A>C, NM_001322190.2:c.3271A>C, NM_001322190.1:c.3271A>C, NM_001322178.2:c.3265A>C, NM_001322178.1:c.3265A>C, NM_001322180.2:c.3028A>C, NM_001322180.1:c.3028A>C, NM_001322191.2:c.2488A>C, NM_001322191.1:c.2488A>C, NM_001322179.2:c.3175A>C, NM_001322179.1:c.3175A>C, NP_207837.2:p.Lys1139Gln, NP_620481.2:p.Lys1066Gln, XP_011521705.1:p.Lys1114Gln, NP_001309118.1:p.Lys1051Gln, NP_001309116.1:p.Lys667Gln, NP_001309110.1:p.Lys1138Gln, NP_001309117.1:p.Lys1139Gln, NP_001309119.1:p.Lys1091Gln, NP_001309107.1:p.Lys1089Gln, NP_001309109.1:p.Lys1010Gln, NP_001309120.1:p.Lys830Gln, NP_001309108.1:p.Lys1059Gln

                  9.

                  rs1484362911 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    16:76461995 (GRCh38)
                    16:76495892 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:76461994:T:C
                    Gene:
                    CNTNAP4 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000016.10:g.76461995T>C, NC_000016.9:g.76495892T>C, NM_033401.5:c.1373T>C, NM_033401.4:c.1373T>C, NM_033401.3:c.1373T>C, NM_138994.5:c.1154T>C, NM_138994.4:c.1154T>C, NM_138994.3:c.1154T>C, XM_011523403.3:c.1298T>C, XM_011523403.2:c.1298T>C, XM_011523403.1:c.1298T>C, NM_001322189.2:c.1109T>C, NM_001322189.1:c.1109T>C, NR_136216.2:n.1818T>C, NR_136216.1:n.2002T>C, NR_136210.2:n.1635T>C, NR_136210.1:n.1819T>C, NM_001322187.2:c.-44T>C, NM_001322187.1:c.-44T>C, NR_136213.2:n.1630T>C, NR_136213.1:n.1814T>C, NM_001322181.2:c.1370T>C, NM_001322181.1:c.1370T>C, NM_001322188.2:c.1373T>C, NM_001322188.1:c.1373T>C, NM_001322190.2:c.1229T>C, NM_001322190.1:c.1229T>C, NM_001322180.2:c.986T>C, NM_001322180.1:c.986T>C, NM_001322191.2:c.446T>C, NM_001322191.1:c.446T>C, NM_001322179.2:c.1373T>C, NM_001322179.1:c.1373T>C, XM_047434819.1:c.1373T>C, NP_207837.2:p.Leu458Ser, NP_620481.2:p.Leu385Ser, XP_011521705.1:p.Leu433Ser, NP_001309118.1:p.Leu370Ser, NP_001309110.1:p.Leu457Ser, NP_001309117.1:p.Leu458Ser, NP_001309119.1:p.Leu410Ser, NP_001309109.1:p.Leu329Ser, NP_001309120.1:p.Leu149Ser, NP_001309108.1:p.Leu458Ser, XP_047290775.1:p.Leu458Ser

                    10.

                    rs1483911404 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:76479475 (GRCh38)
                      16:76513372 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:76479474:T:C
                      Gene:
                      CNTNAP4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000014/2 (GnomAD)
                      C=0.000023/6 (TOPMED)
                      HGVS:
                      NC_000016.10:g.76479475T>C, NC_000016.9:g.76513372T>C, NM_033401.5:c.1819T>C, NM_033401.4:c.1819T>C, NM_033401.3:c.1819T>C, NM_138994.5:c.1600T>C, NM_138994.4:c.1600T>C, NM_138994.3:c.1600T>C, XM_011523403.3:c.1744T>C, XM_011523403.2:c.1744T>C, XM_011523403.1:c.1744T>C, NM_001322189.2:c.1555T>C, NM_001322189.1:c.1555T>C, NR_136216.2:n.2264T>C, NR_136216.1:n.2448T>C, NR_136210.2:n.2081T>C, NR_136210.1:n.2265T>C, NM_001322187.2:c.403T>C, NM_001322187.1:c.403T>C, NR_136213.2:n.2076T>C, NR_136213.1:n.2260T>C, NM_001322181.2:c.1816T>C, NM_001322181.1:c.1816T>C, NM_001322188.2:c.1819T>C, NM_001322188.1:c.1819T>C, NM_001322190.2:c.1675T>C, NM_001322190.1:c.1675T>C, NM_001322178.2:c.1669T>C, NM_001322178.1:c.1669T>C, NM_001322180.2:c.1432T>C, NM_001322180.1:c.1432T>C, NM_001322191.2:c.892T>C, NM_001322191.1:c.892T>C, NM_001322179.2:c.1819T>C, NM_001322179.1:c.1819T>C, XM_047434819.1:c.1819T>C, NP_207837.2:p.Tyr607His, NP_620481.2:p.Tyr534His, XP_011521705.1:p.Tyr582His, NP_001309118.1:p.Tyr519His, NP_001309116.1:p.Tyr135His, NP_001309110.1:p.Tyr606His, NP_001309117.1:p.Tyr607His, NP_001309119.1:p.Tyr559His, NP_001309107.1:p.Tyr557His, NP_001309109.1:p.Tyr478His, NP_001309120.1:p.Tyr298His, NP_001309108.1:p.Tyr607His, XP_047290775.1:p.Tyr607His

                      11.

                      rs1483799971 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:76462045 (GRCh38)
                        16:76495942 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:76462044:T:C
                        Gene:
                        CNTNAP4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.76462045T>C, NC_000016.9:g.76495942T>C, NM_033401.5:c.1423T>C, NM_033401.4:c.1423T>C, NM_033401.3:c.1423T>C, NM_138994.5:c.1204T>C, NM_138994.4:c.1204T>C, NM_138994.3:c.1204T>C, XM_011523403.3:c.1348T>C, XM_011523403.2:c.1348T>C, XM_011523403.1:c.1348T>C, NM_001322189.2:c.1159T>C, NM_001322189.1:c.1159T>C, NR_136216.2:n.1868T>C, NR_136216.1:n.2052T>C, NR_136210.2:n.1685T>C, NR_136210.1:n.1869T>C, NM_001322187.2:c.7T>C, NM_001322187.1:c.7T>C, NR_136213.2:n.1680T>C, NR_136213.1:n.1864T>C, NM_001322181.2:c.1420T>C, NM_001322181.1:c.1420T>C, NM_001322188.2:c.1423T>C, NM_001322188.1:c.1423T>C, NM_001322190.2:c.1279T>C, NM_001322190.1:c.1279T>C, NM_001322180.2:c.1036T>C, NM_001322180.1:c.1036T>C, NM_001322191.2:c.496T>C, NM_001322191.1:c.496T>C, NM_001322179.2:c.1423T>C, NM_001322179.1:c.1423T>C, XM_047434819.1:c.1423T>C, NP_207837.2:p.Ser475Pro, NP_620481.2:p.Ser402Pro, XP_011521705.1:p.Ser450Pro, NP_001309118.1:p.Ser387Pro, NP_001309116.1:p.Ser3Pro, NP_001309110.1:p.Ser474Pro, NP_001309117.1:p.Ser475Pro, NP_001309119.1:p.Ser427Pro, NP_001309109.1:p.Ser346Pro, NP_001309120.1:p.Ser166Pro, NP_001309108.1:p.Ser475Pro, XP_047290775.1:p.Ser475Pro

                        12.

                        rs1482400623 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          16:76522100 (GRCh38)
                          16:76555997 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:76522099:G:
                          Gene:
                          CNTNAP4 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000016.10:g.76522100del, NC_000016.9:g.76555997del, NM_033401.5:c.2598del, NM_033401.4:c.2598del, NM_033401.3:c.2598del, NM_138994.5:c.2379del, NM_138994.4:c.2379del, NM_138994.3:c.2379del, XM_011523403.3:c.2523del, XM_011523403.2:c.2523del, XM_011523403.1:c.2523del, NM_001322189.2:c.2334del, NM_001322189.1:c.2334del, NR_136216.2:n.3089del, NR_136216.1:n.3273del, NR_136210.2:n.2860del, NR_136210.1:n.3044del, NM_001322187.2:c.1182del, NM_001322187.1:c.1182del, NR_136213.2:n.2901del, NR_136213.1:n.3085del, NM_001322181.2:c.2595del, NM_001322181.1:c.2595del, NM_001322188.2:c.2598del, NM_001322188.1:c.2598del, NM_001322190.2:c.2454del, NM_001322190.1:c.2454del, NM_001322178.2:c.2448del, NM_001322178.1:c.2448del, NM_001322180.2:c.2211del, NM_001322180.1:c.2211del, NM_001322191.2:c.1671del, NM_001322191.1:c.1671del, NM_001322179.2:c.2598del, NM_001322179.1:c.2598del, NP_207837.2:p.Gln866fs, NP_620481.2:p.Gln793fs, XP_011521705.1:p.Gln841fs, NP_001309118.1:p.Gln778fs, NP_001309116.1:p.Gln394fs, NP_001309110.1:p.Gln865fs, NP_001309117.1:p.Gln866fs, NP_001309119.1:p.Gln818fs, NP_001309107.1:p.Gln816fs, NP_001309109.1:p.Gln737fs, NP_001309120.1:p.Gln557fs, NP_001309108.1:p.Gln866fs

                          13.

                          rs1482161417 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:76452709 (GRCh38)
                            16:76486606 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:76452708:G:A
                            Gene:
                            CNTNAP4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000016.10:g.76452709G>A, NC_000016.9:g.76486606G>A, NM_033401.5:c.1273G>A, NM_033401.4:c.1273G>A, NM_033401.3:c.1273G>A, NM_138994.5:c.1054G>A, NM_138994.4:c.1054G>A, NM_138994.3:c.1054G>A, XM_011523403.3:c.1198G>A, XM_011523403.2:c.1198G>A, XM_011523403.1:c.1198G>A, NM_001322189.2:c.1009G>A, NM_001322189.1:c.1009G>A, NR_136216.2:n.1535G>A, NR_136216.1:n.1719G>A, NR_136210.2:n.1535G>A, NR_136210.1:n.1719G>A, NM_001322187.2:c.-214G>A, NM_001322187.1:c.-214G>A, NR_136213.2:n.1530G>A, NR_136213.1:n.1714G>A, NM_001322181.2:c.1270G>A, NM_001322181.1:c.1270G>A, NM_001322188.2:c.1273G>A, NM_001322188.1:c.1273G>A, NM_001322190.2:c.1129G>A, NM_001322190.1:c.1129G>A, NM_001322178.2:c.1273G>A, NM_001322178.1:c.1273G>A, NM_001322180.2:c.886G>A, NM_001322180.1:c.886G>A, NM_001322191.2:c.346G>A, NM_001322191.1:c.346G>A, NM_001322179.2:c.1273G>A, NM_001322179.1:c.1273G>A, XM_047434819.1:c.1273G>A, NP_207837.2:p.Asp425Asn, NP_620481.2:p.Asp352Asn, XP_011521705.1:p.Asp400Asn, NP_001309118.1:p.Asp337Asn, NP_001309110.1:p.Asp424Asn, NP_001309117.1:p.Asp425Asn, NP_001309119.1:p.Asp377Asn, NP_001309107.1:p.Asp425Asn, NP_001309109.1:p.Asp296Asn, NP_001309120.1:p.Asp116Asn, NP_001309108.1:p.Asp425Asn, XP_047290775.1:p.Asp425Asn

                            14.

                            rs1481603718 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              16:76448870 (GRCh38)
                              16:76482767 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:76448869:A:T
                              Gene:
                              CNTNAP4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000016.10:g.76448870A>T, NC_000016.9:g.76482767A>T, NM_033401.5:c.846A>T, NM_033401.4:c.846A>T, NM_033401.3:c.846A>T, NM_138994.5:c.771A>T, NM_138994.4:c.771A>T, NM_138994.3:c.771A>T, XM_011523403.3:c.771A>T, XM_011523403.2:c.771A>T, XM_011523403.1:c.771A>T, NM_001322189.2:c.582A>T, NM_001322189.1:c.582A>T, NR_136216.2:n.1108A>T, NR_136216.1:n.1292A>T, NR_136210.2:n.1108A>T, NR_136210.1:n.1292A>T, NM_001322187.2:c.-636A>T, NM_001322187.1:c.-636A>T, NR_136213.2:n.1108A>T, NR_136213.1:n.1292A>T, NM_001322181.2:c.843A>T, NM_001322181.1:c.843A>T, NM_001322188.2:c.846A>T, NM_001322188.1:c.846A>T, NM_001322190.2:c.846A>T, NM_001322190.1:c.846A>T, NM_001322178.2:c.846A>T, NM_001322178.1:c.846A>T, NM_001322180.2:c.459A>T, NM_001322180.1:c.459A>T, NM_001322191.2:c.-77A>T, NM_001322191.1:c.-77A>T, NM_001322179.2:c.846A>T, NM_001322179.1:c.846A>T, XM_047434819.1:c.846A>T, NP_207837.2:p.Lys282Asn, NP_620481.2:p.Lys257Asn, XP_011521705.1:p.Lys257Asn, NP_001309118.1:p.Lys194Asn, NP_001309110.1:p.Lys281Asn, NP_001309117.1:p.Lys282Asn, NP_001309119.1:p.Lys282Asn, NP_001309107.1:p.Lys282Asn, NP_001309109.1:p.Lys153Asn, NP_001309108.1:p.Lys282Asn, XP_047290775.1:p.Lys282Asn

                              15.

                              rs1481584169 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                16:76522053 (GRCh38)
                                16:76555950 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:76522052:A:
                                Gene:
                                CNTNAP4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.76522053del, NC_000016.9:g.76555950del, NM_033401.5:c.2551del, NM_033401.4:c.2551del, NM_033401.3:c.2551del, NM_138994.5:c.2332del, NM_138994.4:c.2332del, NM_138994.3:c.2332del, XM_011523403.3:c.2476del, XM_011523403.2:c.2476del, XM_011523403.1:c.2476del, NM_001322189.2:c.2287del, NM_001322189.1:c.2287del, NR_136216.2:n.3042del, NR_136216.1:n.3226del, NR_136210.2:n.2813del, NR_136210.1:n.2997del, NM_001322187.2:c.1135del, NM_001322187.1:c.1135del, NR_136213.2:n.2854del, NR_136213.1:n.3038del, NM_001322181.2:c.2548del, NM_001322181.1:c.2548del, NM_001322188.2:c.2551del, NM_001322188.1:c.2551del, NM_001322190.2:c.2407del, NM_001322190.1:c.2407del, NM_001322178.2:c.2401del, NM_001322178.1:c.2401del, NM_001322180.2:c.2164del, NM_001322180.1:c.2164del, NM_001322191.2:c.1624del, NM_001322191.1:c.1624del, NM_001322179.2:c.2551del, NM_001322179.1:c.2551del, NP_207837.2:p.Thr851fs, NP_620481.2:p.Thr778fs, XP_011521705.1:p.Thr826fs, NP_001309118.1:p.Thr763fs, NP_001309116.1:p.Thr379fs, NP_001309110.1:p.Thr850fs, NP_001309117.1:p.Thr851fs, NP_001309119.1:p.Thr803fs, NP_001309107.1:p.Thr801fs, NP_001309109.1:p.Thr722fs, NP_001309120.1:p.Thr542fs, NP_001309108.1:p.Thr851fs

                                16.

                                rs1481552406 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:76494979 (GRCh38)
                                  16:76528876 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:76494978:C:T
                                  Gene:
                                  CNTNAP4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000031/1 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.76494979C>T, NC_000016.9:g.76528876C>T, NM_033401.5:c.2150C>T, NM_033401.4:c.2150C>T, NM_033401.3:c.2150C>T, NM_138994.5:c.1931C>T, NM_138994.4:c.1931C>T, NM_138994.3:c.1931C>T, XM_011523403.3:c.2075C>T, XM_011523403.2:c.2075C>T, XM_011523403.1:c.2075C>T, NM_001322189.2:c.1886C>T, NM_001322189.1:c.1886C>T, NR_136216.2:n.2641C>T, NR_136216.1:n.2825C>T, NR_136210.2:n.2412C>T, NR_136210.1:n.2596C>T, NM_001322187.2:c.734C>T, NM_001322187.1:c.734C>T, NR_136213.2:n.2453C>T, NR_136213.1:n.2637C>T, NM_001322181.2:c.2147C>T, NM_001322181.1:c.2147C>T, NM_001322188.2:c.2150C>T, NM_001322188.1:c.2150C>T, NM_001322190.2:c.2006C>T, NM_001322190.1:c.2006C>T, NM_001322178.2:c.2000C>T, NM_001322178.1:c.2000C>T, NM_001322180.2:c.1763C>T, NM_001322180.1:c.1763C>T, NM_001322191.2:c.1223C>T, NM_001322191.1:c.1223C>T, NM_001322179.2:c.2150C>T, NM_001322179.1:c.2150C>T, NP_207837.2:p.Pro717Leu, NP_620481.2:p.Pro644Leu, XP_011521705.1:p.Pro692Leu, NP_001309118.1:p.Pro629Leu, NP_001309116.1:p.Pro245Leu, NP_001309110.1:p.Pro716Leu, NP_001309117.1:p.Pro717Leu, NP_001309119.1:p.Pro669Leu, NP_001309107.1:p.Pro667Leu, NP_001309109.1:p.Pro588Leu, NP_001309120.1:p.Pro408Leu, NP_001309108.1:p.Pro717Leu

                                  17.

                                  rs1481460245 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    16:76427491 (GRCh38)
                                    16:76461388 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:76427490:T:C
                                    Gene:
                                    CNTNAP4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.76427491T>C, NC_000016.9:g.76461388T>C, NM_033401.5:c.430T>C, NM_033401.4:c.430T>C, NM_033401.3:c.430T>C, NM_138994.5:c.355T>C, NM_138994.4:c.355T>C, NM_138994.3:c.355T>C, XM_011523403.3:c.355T>C, XM_011523403.2:c.355T>C, XM_011523403.1:c.355T>C, NM_001322189.2:c.166T>C, NM_001322189.1:c.166T>C, NR_136216.2:n.692T>C, NR_136216.1:n.876T>C, NR_136210.2:n.692T>C, NR_136210.1:n.876T>C, NM_001322187.2:c.-1052T>C, NM_001322187.1:c.-1052T>C, NR_136213.2:n.692T>C, NR_136213.1:n.876T>C, NM_001322181.2:c.427T>C, NM_001322181.1:c.427T>C, NM_001322188.2:c.430T>C, NM_001322188.1:c.430T>C, NM_001322190.2:c.430T>C, NM_001322190.1:c.430T>C, NM_001322178.2:c.430T>C, NM_001322178.1:c.430T>C, NM_001322180.2:c.43T>C, NM_001322180.1:c.43T>C, NM_001322191.2:c.-493T>C, NM_001322191.1:c.-493T>C, NM_001322179.2:c.430T>C, NM_001322179.1:c.430T>C, XM_047434819.1:c.430T>C, NP_207837.2:p.Tyr144His, NP_620481.2:p.Tyr119His, XP_011521705.1:p.Tyr119His, NP_001309118.1:p.Tyr56His, NP_001309110.1:p.Tyr143His, NP_001309117.1:p.Tyr144His, NP_001309119.1:p.Tyr144His, NP_001309107.1:p.Tyr144His, NP_001309109.1:p.Tyr15His, NP_001309108.1:p.Tyr144His, XP_047290775.1:p.Tyr144His

                                    18.

                                    rs1481345249 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      16:76449821 (GRCh38)
                                      16:76483718 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:76449820:A:G
                                      Gene:
                                      CNTNAP4 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                      HGVS:
                                      NC_000016.10:g.76449821A>G, NC_000016.9:g.76483718A>G, NM_033401.5:c.1034A>G, NM_033401.4:c.1034A>G, NM_033401.3:c.1034A>G, XM_011523403.3:c.959A>G, XM_011523403.2:c.959A>G, XM_011523403.1:c.959A>G, NM_001322189.2:c.770A>G, NM_001322189.1:c.770A>G, NR_136216.2:n.1296A>G, NR_136216.1:n.1480A>G, NR_136210.2:n.1296A>G, NR_136210.1:n.1480A>G, NM_001322187.2:c.-453A>G, NM_001322187.1:c.-453A>G, NR_136213.2:n.1291A>G, NR_136213.1:n.1475A>G, NM_001322181.2:c.1031A>G, NM_001322181.1:c.1031A>G, NM_001322188.2:c.1034A>G, NM_001322188.1:c.1034A>G, NM_001322178.2:c.1034A>G, NM_001322178.1:c.1034A>G, NM_001322180.2:c.647A>G, NM_001322180.1:c.647A>G, NM_001322191.2:c.107A>G, NM_001322191.1:c.107A>G, NM_001322179.2:c.1034A>G, NM_001322179.1:c.1034A>G, XM_047434819.1:c.1034A>G, NP_207837.2:p.Asp345Gly, XP_011521705.1:p.Asp320Gly, NP_001309118.1:p.Asp257Gly, NP_001309110.1:p.Asp344Gly, NP_001309117.1:p.Asp345Gly, NP_001309107.1:p.Asp345Gly, NP_001309109.1:p.Asp216Gly, NP_001309120.1:p.Asp36Gly, NP_001309108.1:p.Asp345Gly, XP_047290775.1:p.Asp345Gly

                                      19.

                                      rs1480435356 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        16:76538221 (GRCh38)
                                        16:76572118 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:76538220:A:T
                                        Gene:
                                        CNTNAP4 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                        HGVS:
                                        NC_000016.10:g.76538221A>T, NC_000016.9:g.76572118A>T, NM_033401.5:c.3101A>T, NM_033401.4:c.3101A>T, NM_033401.3:c.3101A>T, NM_138994.5:c.2882A>T, NM_138994.4:c.2882A>T, NM_138994.3:c.2882A>T, XM_011523403.3:c.3026A>T, XM_011523403.2:c.3026A>T, XM_011523403.1:c.3026A>T, NM_001322189.2:c.2837A>T, NM_001322189.1:c.2837A>T, NR_136216.2:n.3592A>T, NR_136216.1:n.3776A>T, NR_136210.2:n.3363A>T, NR_136210.1:n.3547A>T, NM_001322187.2:c.1685A>T, NM_001322187.1:c.1685A>T, NR_136213.2:n.3404A>T, NR_136213.1:n.3588A>T, NM_001322181.2:c.3098A>T, NM_001322181.1:c.3098A>T, NM_001322188.2:c.3101A>T, NM_001322188.1:c.3101A>T, NM_001322190.2:c.2957A>T, NM_001322190.1:c.2957A>T, NM_001322178.2:c.2951A>T, NM_001322178.1:c.2951A>T, NM_001322180.2:c.2714A>T, NM_001322180.1:c.2714A>T, NM_001322191.2:c.2174A>T, NM_001322191.1:c.2174A>T, NM_001322179.2:c.2861A>T, NM_001322179.1:c.2861A>T, NP_207837.2:p.Asp1034Val, NP_620481.2:p.Asp961Val, XP_011521705.1:p.Asp1009Val, NP_001309118.1:p.Asp946Val, NP_001309116.1:p.Asp562Val, NP_001309110.1:p.Asp1033Val, NP_001309117.1:p.Asp1034Val, NP_001309119.1:p.Asp986Val, NP_001309107.1:p.Asp984Val, NP_001309109.1:p.Asp905Val, NP_001309120.1:p.Asp725Val, NP_001309108.1:p.Asp954Val

                                        20.

                                        rs1480306124 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:76427479 (GRCh38)
                                          16:76461376 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:76427478:A:G
                                          Gene:
                                          CNTNAP4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.00003/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.76427479A>G, NC_000016.9:g.76461376A>G, NM_033401.5:c.418A>G, NM_033401.4:c.418A>G, NM_033401.3:c.418A>G, NM_138994.5:c.343A>G, NM_138994.4:c.343A>G, NM_138994.3:c.343A>G, XM_011523403.3:c.343A>G, XM_011523403.2:c.343A>G, XM_011523403.1:c.343A>G, NM_001322189.2:c.154A>G, NM_001322189.1:c.154A>G, NR_136216.2:n.680A>G, NR_136216.1:n.864A>G, NR_136210.2:n.680A>G, NR_136210.1:n.864A>G, NM_001322187.2:c.-1064A>G, NM_001322187.1:c.-1064A>G, NR_136213.2:n.680A>G, NR_136213.1:n.864A>G, NM_001322181.2:c.415A>G, NM_001322181.1:c.415A>G, NM_001322188.2:c.418A>G, NM_001322188.1:c.418A>G, NM_001322190.2:c.418A>G, NM_001322190.1:c.418A>G, NM_001322178.2:c.418A>G, NM_001322178.1:c.418A>G, NM_001322180.2:c.31A>G, NM_001322180.1:c.31A>G, NM_001322191.2:c.-505A>G, NM_001322191.1:c.-505A>G, NM_001322179.2:c.418A>G, NM_001322179.1:c.418A>G, XM_047434819.1:c.418A>G, NP_207837.2:p.Ser140Gly, NP_620481.2:p.Ser115Gly, XP_011521705.1:p.Ser115Gly, NP_001309118.1:p.Ser52Gly, NP_001309110.1:p.Ser139Gly, NP_001309117.1:p.Ser140Gly, NP_001309119.1:p.Ser140Gly, NP_001309107.1:p.Ser140Gly, NP_001309109.1:p.Ser11Gly, NP_001309108.1:p.Ser140Gly, XP_047290775.1:p.Ser140Gly

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