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Items: 1 to 20 of 378

1.

rs1489989412 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:34564722 (GRCh38)
    9:34564720 (GRCh37)
    Canonical SPDI:
    NC_000009.12:34564721:G:A
    Gene:
    CNTFR (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.34564722G>A, NC_000009.11:g.34564720G>A, NG_047044.1:g.30419C>T, NM_001842.5:c.196C>T, NM_001842.4:c.196C>T, NM_147164.3:c.196C>T, NM_147164.2:c.196C>T, NM_001207011.2:c.196C>T, NM_001207011.1:c.196C>T, XM_017014264.2:c.196C>T, XM_017014264.1:c.196C>T, XM_017014260.2:c.397C>T, XM_017014260.1:c.397C>T, XM_017014261.2:c.397C>T, XM_017014261.1:c.397C>T, XM_017014262.2:c.397C>T, XM_017014262.1:c.397C>T, XM_017014263.2:c.196C>T, XM_017014263.1:c.196C>T, XM_017014265.2:c.196C>T, XM_017014265.1:c.196C>T, XM_047422753.1:c.535C>T, XM_047422757.1:c.196C>T, XM_047422755.1:c.397C>T, XM_047422756.1:c.397C>T, XM_047422758.1:c.196C>T, XM_047422754.1:c.196C>T, NP_001833.1:p.Pro66Ser, NP_671693.1:p.Pro66Ser, NP_001193940.1:p.Pro66Ser, XP_016869753.1:p.Pro66Ser, XP_016869749.1:p.Pro133Ser, XP_016869750.1:p.Pro133Ser, XP_016869751.1:p.Pro133Ser, XP_016869752.1:p.Pro66Ser, XP_016869754.1:p.Pro66Ser, XP_047278709.1:p.Pro179Ser, XP_047278713.1:p.Pro66Ser, XP_047278711.1:p.Pro133Ser, XP_047278712.1:p.Pro133Ser, XP_047278714.1:p.Pro66Ser, XP_047278710.1:p.Pro66Ser

    2.

    rs1487705167 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:34552205 (GRCh38)
      9:34552203 (GRCh37)
      Canonical SPDI:
      NC_000009.12:34552204:C:T
      Gene:
      CNTFR (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
      HGVS:

      3.

      rs1480501630 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:34556290 (GRCh38)
        9:34556288 (GRCh37)
        Canonical SPDI:
        NC_000009.12:34556289:G:A
        Gene:
        CNTFR (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.34556290G>A, NC_000009.11:g.34556288G>A, NG_047044.1:g.38851C>T, NM_001842.5:c.733C>T, NM_001842.4:c.733C>T, NM_147164.3:c.733C>T, NM_147164.2:c.733C>T, NM_001207011.2:c.733C>T, NM_001207011.1:c.733C>T, XM_017014264.2:c.733C>T, XM_017014264.1:c.733C>T, XM_017014260.2:c.934C>T, XM_017014260.1:c.934C>T, XM_017014261.2:c.934C>T, XM_017014261.1:c.934C>T, XM_017014262.2:c.934C>T, XM_017014262.1:c.934C>T, XM_017014263.2:c.733C>T, XM_017014263.1:c.733C>T, XM_017014265.2:c.733C>T, XM_017014265.1:c.733C>T, XM_047422753.1:c.1072C>T, XM_047422757.1:c.733C>T, XM_047422755.1:c.934C>T, XM_047422756.1:c.934C>T, XM_047422758.1:c.733C>T, XM_047422754.1:c.733C>T, NP_001833.1:p.Arg245Cys, NP_671693.1:p.Arg245Cys, NP_001193940.1:p.Arg245Cys, XP_016869753.1:p.Arg245Cys, XP_016869749.1:p.Arg312Cys, XP_016869750.1:p.Arg312Cys, XP_016869751.1:p.Arg312Cys, XP_016869752.1:p.Arg245Cys, XP_016869754.1:p.Arg245Cys, XP_047278709.1:p.Arg358Cys, XP_047278713.1:p.Arg245Cys, XP_047278711.1:p.Arg312Cys, XP_047278712.1:p.Arg312Cys, XP_047278714.1:p.Arg245Cys, XP_047278710.1:p.Arg245Cys

        4.

        rs1477765579 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:34552724 (GRCh38)
          9:34552722 (GRCh37)
          Canonical SPDI:
          NC_000009.12:34552723:G:A
          Gene:
          CNTFR (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.34552724G>A, NC_000009.11:g.34552722G>A, NG_047044.1:g.42417C>T, NM_001842.5:c.899C>T, NM_001842.4:c.899C>T, NM_147164.3:c.899C>T, NM_147164.2:c.899C>T, NM_001207011.2:c.899C>T, NM_001207011.1:c.899C>T, XM_017014264.2:c.899C>T, XM_017014264.1:c.899C>T, XM_017014260.2:c.1100C>T, XM_017014260.1:c.1100C>T, XM_017014261.2:c.1100C>T, XM_017014261.1:c.1100C>T, XM_017014262.2:c.1100C>T, XM_017014262.1:c.1100C>T, XM_017014263.2:c.899C>T, XM_017014263.1:c.899C>T, XM_017014265.2:c.899C>T, XM_017014265.1:c.899C>T, XM_047422753.1:c.1238C>T, XM_047422757.1:c.899C>T, XM_047422755.1:c.1100C>T, XM_047422756.1:c.1100C>T, XM_047422758.1:c.899C>T, XM_047422754.1:c.899C>T, NP_001833.1:p.Thr300Met, NP_671693.1:p.Thr300Met, NP_001193940.1:p.Thr300Met, XP_016869753.1:p.Thr300Met, XP_016869749.1:p.Thr367Met, XP_016869750.1:p.Thr367Met, XP_016869751.1:p.Thr367Met, XP_016869752.1:p.Thr300Met, XP_016869754.1:p.Thr300Met, XP_047278709.1:p.Thr413Met, XP_047278713.1:p.Thr300Met, XP_047278711.1:p.Thr367Met, XP_047278712.1:p.Thr367Met, XP_047278714.1:p.Thr300Met, XP_047278710.1:p.Thr300Met

          5.

          rs1476872601 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:34552798 (GRCh38)
            9:34552796 (GRCh37)
            Canonical SPDI:
            NC_000009.12:34552797:C:T
            Gene:
            CNTFR (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            HGVS:

            6.

            rs1474620664 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:34568945 (GRCh38)
              9:34568943 (GRCh37)
              Canonical SPDI:
              NC_000009.12:34568944:G:A
              Gene:
              CNTFR (Varview), CNTFR-AS1 (Varview), LOC105376023 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000009.12:g.34568945G>A, NC_000009.11:g.34568943G>A, NG_047044.1:g.26196C>T, NM_001842.5:c.37C>T, NM_001842.4:c.37C>T, NM_147164.3:c.37C>T, NM_147164.2:c.37C>T, NM_001207011.2:c.37C>T, NM_001207011.1:c.37C>T, XM_017014264.2:c.37C>T, XM_017014264.1:c.37C>T, XM_017014260.2:c.238C>T, XM_017014260.1:c.238C>T, XM_017014261.2:c.238C>T, XM_017014261.1:c.238C>T, XM_017014262.2:c.238C>T, XM_017014262.1:c.238C>T, XM_017014263.2:c.37C>T, XM_017014263.1:c.37C>T, XM_017014265.2:c.37C>T, XM_017014265.1:c.37C>T, XM_047422753.1:c.376C>T, XM_047422757.1:c.37C>T, XM_047422755.1:c.238C>T, XM_047422756.1:c.238C>T, XM_047422758.1:c.37C>T, XM_047422754.1:c.37C>T, NP_001833.1:p.Leu13Phe, NP_671693.1:p.Leu13Phe, NP_001193940.1:p.Leu13Phe, XP_016869753.1:p.Leu13Phe, XP_016869749.1:p.Leu80Phe, XP_016869750.1:p.Leu80Phe, XP_016869751.1:p.Leu80Phe, XP_016869752.1:p.Leu13Phe, XP_016869754.1:p.Leu13Phe, XP_047278709.1:p.Leu126Phe, XP_047278713.1:p.Leu13Phe, XP_047278711.1:p.Leu80Phe, XP_047278712.1:p.Leu80Phe, XP_047278714.1:p.Leu13Phe, XP_047278710.1:p.Leu13Phe

              7.

              rs1473965376 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:34557927 (GRCh38)
                9:34557925 (GRCh37)
                Canonical SPDI:
                NC_000009.12:34557926:T:C
                Gene:
                CNTFR (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.000009/2 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.34557927T>C, NC_000009.11:g.34557925T>C, NG_047044.1:g.37214A>G, NM_001842.5:c.377A>G, NM_001842.4:c.377A>G, NM_147164.3:c.377A>G, NM_147164.2:c.377A>G, NM_001207011.2:c.377A>G, NM_001207011.1:c.377A>G, XM_017014264.2:c.377A>G, XM_017014264.1:c.377A>G, XM_017014260.2:c.578A>G, XM_017014260.1:c.578A>G, XM_017014261.2:c.578A>G, XM_017014261.1:c.578A>G, XM_017014262.2:c.578A>G, XM_017014262.1:c.578A>G, XM_017014263.2:c.377A>G, XM_017014263.1:c.377A>G, XM_017014265.2:c.377A>G, XM_017014265.1:c.377A>G, XM_047422753.1:c.716A>G, XM_047422757.1:c.377A>G, XM_047422755.1:c.578A>G, XM_047422756.1:c.578A>G, XM_047422758.1:c.377A>G, XM_047422754.1:c.377A>G, NP_001833.1:p.Tyr126Cys, NP_671693.1:p.Tyr126Cys, NP_001193940.1:p.Tyr126Cys, XP_016869753.1:p.Tyr126Cys, XP_016869749.1:p.Tyr193Cys, XP_016869750.1:p.Tyr193Cys, XP_016869751.1:p.Tyr193Cys, XP_016869752.1:p.Tyr126Cys, XP_016869754.1:p.Tyr126Cys, XP_047278709.1:p.Tyr239Cys, XP_047278713.1:p.Tyr126Cys, XP_047278711.1:p.Tyr193Cys, XP_047278712.1:p.Tyr193Cys, XP_047278714.1:p.Tyr126Cys, XP_047278710.1:p.Tyr126Cys

                8.

                rs1472603252 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:34557953 (GRCh38)
                  9:34557951 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:34557952:G:A
                  Gene:
                  CNTFR (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1471612187 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:34552326 (GRCh38)
                    9:34552324 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:34552325:G:A
                    Gene:
                    CNTFR (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000014/2 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.34552326G>A, NC_000009.11:g.34552324G>A, NG_047044.1:g.42815C>T, NM_001842.5:c.953C>T, NM_001842.4:c.953C>T, NM_147164.3:c.953C>T, NM_147164.2:c.953C>T, NM_001207011.2:c.953C>T, NM_001207011.1:c.953C>T, XM_017014264.2:c.953C>T, XM_017014264.1:c.953C>T, XM_017014260.2:c.1154C>T, XM_017014260.1:c.1154C>T, XM_017014261.2:c.1154C>T, XM_017014261.1:c.1154C>T, XM_017014262.2:c.1154C>T, XM_017014262.1:c.1154C>T, XM_017014263.2:c.953C>T, XM_017014263.1:c.953C>T, XM_017014265.2:c.953C>T, XM_017014265.1:c.953C>T, XM_047422753.1:c.1292C>T, XM_047422757.1:c.953C>T, XM_047422755.1:c.1154C>T, XM_047422756.1:c.1154C>T, XM_047422758.1:c.953C>T, XM_047422754.1:c.951C>T, NP_001833.1:p.Thr318Ile, NP_671693.1:p.Thr318Ile, NP_001193940.1:p.Thr318Ile, XP_016869753.1:p.Thr318Ile, XP_016869749.1:p.Thr385Ile, XP_016869750.1:p.Thr385Ile, XP_016869751.1:p.Thr385Ile, XP_016869752.1:p.Thr318Ile, XP_016869754.1:p.Thr318Ile, XP_047278709.1:p.Thr431Ile, XP_047278713.1:p.Thr318Ile, XP_047278711.1:p.Thr385Ile, XP_047278712.1:p.Thr385Ile, XP_047278714.1:p.Thr318Ile

                    10.

                    rs1468975270 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      9:34552293 (GRCh38)
                      9:34552291 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:34552292:GGGGG:GGGG
                      Gene:
                      CNTFR (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GGGG=0./0 (ALFA)
                      HGVS:
                      NC_000009.12:g.34552297del, NC_000009.11:g.34552295del, NG_047044.1:g.42848del, NM_001842.5:c.986del, NM_001842.4:c.986del, NM_147164.3:c.986del, NM_147164.2:c.986del, NM_001207011.2:c.986del, NM_001207011.1:c.986del, XM_017014264.2:c.986del, XM_017014264.1:c.986del, XM_017014260.2:c.1187del, XM_017014260.1:c.1187del, XM_017014261.2:c.1187del, XM_017014261.1:c.1187del, XM_017014262.2:c.1187del, XM_017014262.1:c.1187del, XM_017014263.2:c.986del, XM_017014263.1:c.986del, XM_017014265.2:c.986del, XM_017014265.1:c.986del, XM_047422753.1:c.1325del, XM_047422757.1:c.986del, XM_047422755.1:c.1187del, XM_047422756.1:c.1187del, XM_047422758.1:c.986del, XM_047422754.1:c.984del, NP_001833.1:p.Pro329fs, NP_671693.1:p.Pro329fs, NP_001193940.1:p.Pro329fs, XP_016869753.1:p.Pro329fs, XP_016869749.1:p.Pro396fs, XP_016869750.1:p.Pro396fs, XP_016869751.1:p.Pro396fs, XP_016869752.1:p.Pro329fs, XP_016869754.1:p.Pro329fs, XP_047278709.1:p.Pro442fs, XP_047278713.1:p.Pro329fs, XP_047278711.1:p.Pro396fs, XP_047278712.1:p.Pro396fs, XP_047278714.1:p.Pro329fs, XP_047278710.1:p.Thr329fs

                      11.

                      rs1464792178 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:34552225 (GRCh38)
                        9:34552223 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:34552224:C:T
                        Gene:
                        CNTFR (Varview)
                        Functional Consequence:
                        coding_sequence_variant,3_prime_UTR_variant,missense_variant
                        HGVS:
                        NC_000009.12:g.34552225C>T, NC_000009.11:g.34552223C>T, NG_047044.1:g.42916G>A, NM_001842.5:c.1054G>A, NM_001842.4:c.1054G>A, NM_147164.3:c.1054G>A, NM_147164.2:c.1054G>A, NM_001207011.2:c.1054G>A, NM_001207011.1:c.1054G>A, XM_017014264.2:c.1054G>A, XM_017014264.1:c.1054G>A, XM_017014260.2:c.1255G>A, XM_017014260.1:c.1255G>A, XM_017014261.2:c.1255G>A, XM_017014261.1:c.1255G>A, XM_017014262.2:c.1255G>A, XM_017014262.1:c.1255G>A, XM_017014263.2:c.1054G>A, XM_017014263.1:c.1054G>A, XM_017014265.2:c.1054G>A, XM_017014265.1:c.1054G>A, XM_047422753.1:c.1393G>A, XM_047422757.1:c.1054G>A, XM_047422755.1:c.1255G>A, XM_047422756.1:c.1255G>A, XM_047422758.1:c.1054G>A, XM_047422754.1:c.*47G>A, NP_001833.1:p.Val352Ile, NP_671693.1:p.Val352Ile, NP_001193940.1:p.Val352Ile, XP_016869753.1:p.Val352Ile, XP_016869749.1:p.Val419Ile, XP_016869750.1:p.Val419Ile, XP_016869751.1:p.Val419Ile, XP_016869752.1:p.Val352Ile, XP_016869754.1:p.Val352Ile, XP_047278709.1:p.Val465Ile, XP_047278713.1:p.Val352Ile, XP_047278711.1:p.Val419Ile, XP_047278712.1:p.Val419Ile, XP_047278714.1:p.Val352Ile

                        12.

                        rs1461524271 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:34557628 (GRCh38)
                          9:34557626 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:34557627:A:G
                          Gene:
                          CNTFR (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000009.12:g.34557628A>G, NC_000009.11:g.34557626A>G, NG_047044.1:g.37513T>C, NM_001842.5:c.502T>C, NM_001842.4:c.502T>C, NM_147164.3:c.502T>C, NM_147164.2:c.502T>C, NM_001207011.2:c.502T>C, NM_001207011.1:c.502T>C, XM_017014264.2:c.502T>C, XM_017014264.1:c.502T>C, XM_017014260.2:c.703T>C, XM_017014260.1:c.703T>C, XM_017014261.2:c.703T>C, XM_017014261.1:c.703T>C, XM_017014262.2:c.703T>C, XM_017014262.1:c.703T>C, XM_017014263.2:c.502T>C, XM_017014263.1:c.502T>C, XM_017014265.2:c.502T>C, XM_017014265.1:c.502T>C, XM_047422753.1:c.841T>C, XM_047422757.1:c.502T>C, XM_047422755.1:c.703T>C, XM_047422756.1:c.703T>C, XM_047422758.1:c.502T>C, XM_047422754.1:c.502T>C, NP_001833.1:p.Tyr168His, NP_671693.1:p.Tyr168His, NP_001193940.1:p.Tyr168His, XP_016869753.1:p.Tyr168His, XP_016869749.1:p.Tyr235His, XP_016869750.1:p.Tyr235His, XP_016869751.1:p.Tyr235His, XP_016869752.1:p.Tyr168His, XP_016869754.1:p.Tyr168His, XP_047278709.1:p.Tyr281His, XP_047278713.1:p.Tyr168His, XP_047278711.1:p.Tyr235His, XP_047278712.1:p.Tyr235His, XP_047278714.1:p.Tyr168His, XP_047278710.1:p.Tyr168His

                          13.

                          rs1453720477 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:34556392 (GRCh38)
                            9:34556390 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:34556391:C:T
                            Gene:
                            CNTFR (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000009.12:g.34556392C>T, NC_000009.11:g.34556390C>T, NG_047044.1:g.38749G>A, NM_001842.5:c.631G>A, NM_001842.4:c.631G>A, NM_147164.3:c.631G>A, NM_147164.2:c.631G>A, NM_001207011.2:c.631G>A, NM_001207011.1:c.631G>A, XM_017014264.2:c.631G>A, XM_017014264.1:c.631G>A, XM_017014260.2:c.832G>A, XM_017014260.1:c.832G>A, XM_017014261.2:c.832G>A, XM_017014261.1:c.832G>A, XM_017014262.2:c.832G>A, XM_017014262.1:c.832G>A, XM_017014263.2:c.631G>A, XM_017014263.1:c.631G>A, XM_017014265.2:c.631G>A, XM_017014265.1:c.631G>A, XM_047422753.1:c.970G>A, XM_047422757.1:c.631G>A, XM_047422755.1:c.832G>A, XM_047422756.1:c.832G>A, XM_047422758.1:c.631G>A, XM_047422754.1:c.631G>A, NP_001833.1:p.Val211Ile, NP_671693.1:p.Val211Ile, NP_001193940.1:p.Val211Ile, XP_016869753.1:p.Val211Ile, XP_016869749.1:p.Val278Ile, XP_016869750.1:p.Val278Ile, XP_016869751.1:p.Val278Ile, XP_016869752.1:p.Val211Ile, XP_016869754.1:p.Val211Ile, XP_047278709.1:p.Val324Ile, XP_047278713.1:p.Val211Ile, XP_047278711.1:p.Val278Ile, XP_047278712.1:p.Val278Ile, XP_047278714.1:p.Val211Ile, XP_047278710.1:p.Val211Ile

                            14.

                            rs1452984192 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:34557959 (GRCh38)
                              9:34557957 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:34557958:G:A
                              Gene:
                              CNTFR (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1451964275 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:34552714 (GRCh38)
                                9:34552712 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:34552713:A:G
                                Gene:
                                CNTFR (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1450990454 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  9:34552779 (GRCh38)
                                  9:34552777 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:34552778:C:T
                                  Gene:
                                  CNTFR (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.34552779C>T, NC_000009.11:g.34552777C>T, NG_047044.1:g.42362G>A, NM_001842.5:c.844G>A, NM_001842.4:c.844G>A, NM_147164.3:c.844G>A, NM_147164.2:c.844G>A, NM_001207011.2:c.844G>A, NM_001207011.1:c.844G>A, XM_017014264.2:c.844G>A, XM_017014264.1:c.844G>A, XM_017014260.2:c.1045G>A, XM_017014260.1:c.1045G>A, XM_017014261.2:c.1045G>A, XM_017014261.1:c.1045G>A, XM_017014262.2:c.1045G>A, XM_017014262.1:c.1045G>A, XM_017014263.2:c.844G>A, XM_017014263.1:c.844G>A, XM_017014265.2:c.844G>A, XM_017014265.1:c.844G>A, XM_047422753.1:c.1183G>A, XM_047422757.1:c.844G>A, XM_047422755.1:c.1045G>A, XM_047422756.1:c.1045G>A, XM_047422758.1:c.844G>A, XM_047422754.1:c.844G>A, NP_001833.1:p.Ala282Thr, NP_671693.1:p.Ala282Thr, NP_001193940.1:p.Ala282Thr, XP_016869753.1:p.Ala282Thr, XP_016869749.1:p.Ala349Thr, XP_016869750.1:p.Ala349Thr, XP_016869751.1:p.Ala349Thr, XP_016869752.1:p.Ala282Thr, XP_016869754.1:p.Ala282Thr, XP_047278709.1:p.Ala395Thr, XP_047278713.1:p.Ala282Thr, XP_047278711.1:p.Ala349Thr, XP_047278712.1:p.Ala349Thr, XP_047278714.1:p.Ala282Thr, XP_047278710.1:p.Ala282Thr

                                  17.

                                  rs1450288191 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:34557547 (GRCh38)
                                    9:34557545 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:34557546:T:C
                                    Gene:
                                    CNTFR (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.34557547T>C, NC_000009.11:g.34557545T>C, NG_047044.1:g.37594A>G, NM_001842.5:c.583A>G, NM_001842.4:c.583A>G, NM_147164.3:c.583A>G, NM_147164.2:c.583A>G, NM_001207011.2:c.583A>G, NM_001207011.1:c.583A>G, XM_017014264.2:c.583A>G, XM_017014264.1:c.583A>G, XM_017014260.2:c.784A>G, XM_017014260.1:c.784A>G, XM_017014261.2:c.784A>G, XM_017014261.1:c.784A>G, XM_017014262.2:c.784A>G, XM_017014262.1:c.784A>G, XM_017014263.2:c.583A>G, XM_017014263.1:c.583A>G, XM_017014265.2:c.583A>G, XM_017014265.1:c.583A>G, XM_047422753.1:c.922A>G, XM_047422757.1:c.583A>G, XM_047422755.1:c.784A>G, XM_047422756.1:c.784A>G, XM_047422758.1:c.583A>G, XM_047422754.1:c.583A>G, NP_001833.1:p.Thr195Ala, NP_671693.1:p.Thr195Ala, NP_001193940.1:p.Thr195Ala, XP_016869753.1:p.Thr195Ala, XP_016869749.1:p.Thr262Ala, XP_016869750.1:p.Thr262Ala, XP_016869751.1:p.Thr262Ala, XP_016869752.1:p.Thr195Ala, XP_016869754.1:p.Thr195Ala, XP_047278709.1:p.Thr308Ala, XP_047278713.1:p.Thr195Ala, XP_047278711.1:p.Thr262Ala, XP_047278712.1:p.Thr262Ala, XP_047278714.1:p.Thr195Ala, XP_047278710.1:p.Thr195Ala

                                    18.

                                    rs1449873571 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      9:34564768 (GRCh38)
                                      9:34564766 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:34564767:G:C
                                      Gene:
                                      CNTFR (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.34564768G>C, NC_000009.11:g.34564766G>C, NG_047044.1:g.30373C>G, NM_001842.5:c.150C>G, NM_001842.4:c.150C>G, NM_147164.3:c.150C>G, NM_147164.2:c.150C>G, NM_001207011.2:c.150C>G, NM_001207011.1:c.150C>G, XM_017014264.2:c.150C>G, XM_017014264.1:c.150C>G, XM_017014260.2:c.351C>G, XM_017014260.1:c.351C>G, XM_017014261.2:c.351C>G, XM_017014261.1:c.351C>G, XM_017014262.2:c.351C>G, XM_017014262.1:c.351C>G, XM_017014263.2:c.150C>G, XM_017014263.1:c.150C>G, XM_017014265.2:c.150C>G, XM_017014265.1:c.150C>G, XM_047422753.1:c.489C>G, XM_047422757.1:c.150C>G, XM_047422755.1:c.351C>G, XM_047422756.1:c.351C>G, XM_047422758.1:c.150C>G, XM_047422754.1:c.150C>G, NP_001833.1:p.Asn50Lys, NP_671693.1:p.Asn50Lys, NP_001193940.1:p.Asn50Lys, XP_016869753.1:p.Asn50Lys, XP_016869749.1:p.Asn117Lys, XP_016869750.1:p.Asn117Lys, XP_016869751.1:p.Asn117Lys, XP_016869752.1:p.Asn50Lys, XP_016869754.1:p.Asn50Lys, XP_047278709.1:p.Asn163Lys, XP_047278713.1:p.Asn50Lys, XP_047278711.1:p.Asn117Lys, XP_047278712.1:p.Asn117Lys, XP_047278714.1:p.Asn50Lys, XP_047278710.1:p.Asn50Lys

                                      19.

                                      rs1446212493 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:34557595 (GRCh38)
                                        9:34557593 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:34557594:C:T
                                        Gene:
                                        CNTFR (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000009.12:g.34557595C>T, NC_000009.11:g.34557593C>T, NG_047044.1:g.37546G>A, NM_001842.5:c.535G>A, NM_001842.4:c.535G>A, NM_147164.3:c.535G>A, NM_147164.2:c.535G>A, NM_001207011.2:c.535G>A, NM_001207011.1:c.535G>A, XM_017014264.2:c.535G>A, XM_017014264.1:c.535G>A, XM_017014260.2:c.736G>A, XM_017014260.1:c.736G>A, XM_017014261.2:c.736G>A, XM_017014261.1:c.736G>A, XM_017014262.2:c.736G>A, XM_017014262.1:c.736G>A, XM_017014263.2:c.535G>A, XM_017014263.1:c.535G>A, XM_017014265.2:c.535G>A, XM_017014265.1:c.535G>A, XM_047422753.1:c.874G>A, XM_047422757.1:c.535G>A, XM_047422755.1:c.736G>A, XM_047422756.1:c.736G>A, XM_047422758.1:c.535G>A, XM_047422754.1:c.535G>A, NP_001833.1:p.Val179Ile, NP_671693.1:p.Val179Ile, NP_001193940.1:p.Val179Ile, XP_016869753.1:p.Val179Ile, XP_016869749.1:p.Val246Ile, XP_016869750.1:p.Val246Ile, XP_016869751.1:p.Val246Ile, XP_016869752.1:p.Val179Ile, XP_016869754.1:p.Val179Ile, XP_047278709.1:p.Val292Ile, XP_047278713.1:p.Val179Ile, XP_047278711.1:p.Val246Ile, XP_047278712.1:p.Val246Ile, XP_047278714.1:p.Val179Ile, XP_047278710.1:p.Val179Ile

                                        20.

                                        rs1445535364 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          9:34552168 (GRCh38)
                                          9:34552166 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:34552167:A:T
                                          Gene:
                                          CNTFR (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                          HGVS:
                                          NC_000009.12:g.34552168A>T, NC_000009.11:g.34552166A>T, NG_047044.1:g.42973T>A, NM_001842.5:c.1111T>A, NM_001842.4:c.1111T>A, NM_147164.3:c.1111T>A, NM_147164.2:c.1111T>A, NM_001207011.2:c.1111T>A, NM_001207011.1:c.1111T>A, XM_017014264.2:c.1111T>A, XM_017014264.1:c.1111T>A, XM_017014260.2:c.1312T>A, XM_017014260.1:c.1312T>A, XM_017014261.2:c.1312T>A, XM_017014261.1:c.1312T>A, XM_017014262.2:c.1312T>A, XM_017014262.1:c.1312T>A, XM_017014263.2:c.1111T>A, XM_017014263.1:c.1111T>A, XM_017014265.2:c.1111T>A, XM_017014265.1:c.1111T>A, XM_047422753.1:c.1450T>A, XM_047422757.1:c.1111T>A, XM_047422755.1:c.1312T>A, XM_047422756.1:c.1312T>A, XM_047422758.1:c.1111T>A, NP_001833.1:p.Leu371Met, NP_671693.1:p.Leu371Met, NP_001193940.1:p.Leu371Met, XP_016869753.1:p.Leu371Met, XP_016869749.1:p.Leu438Met, XP_016869750.1:p.Leu438Met, XP_016869751.1:p.Leu438Met, XP_016869752.1:p.Leu371Met, XP_016869754.1:p.Leu371Met, XP_047278709.1:p.Leu484Met, XP_047278713.1:p.Leu371Met, XP_047278711.1:p.Leu438Met, XP_047278712.1:p.Leu438Met, XP_047278714.1:p.Leu371Met

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