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Items: 1 to 20 of 110

1.

rs1477272897 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    13:101875193 (GRCh38)
    13:102527543 (GRCh37)
    Canonical SPDI:
    NC_000013.11:101875192:A:G,NC_000013.11:101875192:A:T
    Gene:
    FGF14 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    NC_000013.11:g.101875193A>G, NC_000013.11:g.101875193A>T, NC_000013.10:g.102527543A>G, NC_000013.10:g.102527543A>T, NG_008317.2:g.531582T>C, NG_008317.2:g.531582T>A, NM_175929.2:c.312T>C, NM_175929.2:c.312T>A, NM_175929.3:c.312T>C, NM_175929.3:c.312T>A, NM_001321937.2:c.312T>C, NM_001321937.2:c.312T>A, NM_001321937.1:c.312T>C, NM_001321937.1:c.312T>A, NM_001321949.1:c.45T>C, NM_001321949.1:c.45T>A, NM_001321944.1:c.108T>C, NM_001321944.1:c.108T>A, NM_001321940.1:c.117T>C, NM_001321940.1:c.117T>A, NM_001321943.1:c.45T>C, NM_001321943.1:c.45T>A, NM_001321942.1:c.45T>C, NM_001321942.1:c.45T>A, NM_001321932.1:c.108T>C, NM_001321932.1:c.108T>A, NM_001321931.1:c.45T>C, NM_001321931.1:c.45T>A, NM_001321933.1:c.117T>C, NM_001321933.1:c.117T>A, NM_001321936.1:c.108T>C, NM_001321936.1:c.108T>A, NM_001321934.1:c.45T>C, NM_001321934.1:c.45T>A, NM_001321935.1:c.45T>C, NM_001321935.1:c.45T>A, NM_004115.4:c.297T>C, NM_004115.4:c.297T>A, NM_004115.3:c.297T>C, NM_004115.3:c.297T>A, NM_001321938.2:c.117T>C, NM_001321938.2:c.117T>A, NM_001321938.1:c.117T>C, NM_001321938.1:c.117T>A, NM_001321941.2:c.111T>C, NM_001321941.2:c.111T>A, NM_001321941.1:c.111T>C, NM_001321941.1:c.111T>A, NM_001321946.2:c.45T>C, NM_001321946.2:c.45T>A, NM_001321946.1:c.45T>C, NM_001321946.1:c.45T>A, NM_001321945.2:c.195T>C, NM_001321945.2:c.195T>A, NM_001321945.1:c.195T>C, NM_001321945.1:c.195T>A, NM_001321948.2:c.195T>C, NM_001321948.2:c.195T>A, NM_001321948.1:c.195T>C, NM_001321948.1:c.195T>A, NM_001321947.2:c.156T>C, NM_001321947.2:c.156T>A, NM_001321947.1:c.156T>C, NM_001321947.1:c.156T>A, NM_001379342.1:c.195T>C, NM_001379342.1:c.195T>A

    2.

    rs1476224875 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      T>C
      Chromosome:
      no mapping
      Canonical SPDI:

      3.

      rs1473298586 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        13:102401650 (GRCh38)
        13:103054000 (GRCh37)
        Canonical SPDI:
        NC_000013.11:102401649:C:A
        Gene:
        FGF14 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000011/3 (TOPMED)
        HGVS:

        4.

        rs1463447247 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          13:101868766 (GRCh38)
          13:102521116 (GRCh37)
          Canonical SPDI:
          NC_000013.11:101868765:A:G
          Gene:
          FGF14 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000013.11:g.101868766A>G, NC_000013.10:g.102521116A>G, NG_008317.2:g.538009T>C, NM_175929.2:c.382T>C, NM_175929.3:c.382T>C, NM_001321937.2:c.382T>C, NM_001321937.1:c.382T>C, NM_001321949.1:c.115T>C, NM_001321944.1:c.178T>C, NM_001321940.1:c.187T>C, NM_001321943.1:c.115T>C, NM_001321942.1:c.115T>C, NM_001321932.1:c.178T>C, NM_001321931.1:c.115T>C, NM_001321933.1:c.187T>C, NM_001321936.1:c.178T>C, NM_001321934.1:c.115T>C, NM_001321935.1:c.115T>C, NM_004115.4:c.367T>C, NM_004115.3:c.367T>C, NM_001321938.2:c.187T>C, NM_001321938.1:c.187T>C, NM_001321941.2:c.181T>C, NM_001321941.1:c.181T>C, NM_001321946.2:c.115T>C, NM_001321946.1:c.115T>C, NM_001321939.2:c.271T>C, NM_001321939.1:c.271T>C, NM_001321945.2:c.265T>C, NM_001321945.1:c.265T>C, NM_001321948.2:c.265T>C, NM_001321948.1:c.265T>C, NM_001321947.2:c.226T>C, NM_001321947.1:c.226T>C, NM_001379342.1:c.265T>C

          5.

          rs1453840577 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            13:102401559 (GRCh38)
            13:103053909 (GRCh37)
            Canonical SPDI:
            NC_000013.11:102401558:C:A
            Gene:
            FGF14 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,initiator_codon_variant,5_prime_UTR_variant,intron_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1452185863 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              13:102401567 (GRCh38)
              13:103053917 (GRCh37)
              Canonical SPDI:
              NC_000013.11:102401566:T:C
              Gene:
              FGF14 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1438941189 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:102401644 (GRCh38)
                13:103053994 (GRCh37)
                Canonical SPDI:
                NC_000013.11:102401643:T:C
                Gene:
                FGF14 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/2 (GnomAD_exomes)
                HGVS:

                8.

                rs1436878996 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CT>- [Show Flanks]
                  Chromosome:
                  13:102401490 (GRCh38)
                  13:103053840 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:102401488:TCT:T
                  Gene:
                  FGF14 (Varview)
                  Functional Consequence:
                  frameshift_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                  HGVS:
                  NC_000013.11:g.102401490_102401491del, NC_000013.10:g.103053840_103053841del, NG_008317.2:g.5285_5286del, NM_175929.2:c.189_190del, NM_175929.3:c.189_190del, NM_001321937.2:c.189_190del, NM_001321937.1:c.189_190del, NM_001321949.1:c.-248_-247del, NM_001321944.1:c.-343_-342del, NM_001321940.1:c.-244_-243del, NM_001321943.1:c.-190_-189del, NM_001321942.1:c.-153_-152del, NM_001321938.2:c.-244_-243del, NM_001321938.1:c.-244_-243del, NM_001321941.2:c.-80_-79del, NM_001321941.1:c.-80_-79del, NM_001321946.2:c.-248_-247del, NM_001321946.1:c.-248_-247del, NM_001321939.2:c.189_190del, NM_001321939.1:c.189_190del, NM_001321945.2:c.72_73del, NM_001321945.1:c.72_73del, NM_001321948.2:c.72_73del, NM_001321948.1:c.72_73del, NM_001321947.2:c.33_34del, NM_001321947.1:c.33_34del, NM_001379342.1:c.72_73del, NP_787125.1:p.Asn65fs, NP_001308866.1:p.Asn65fs, NP_001308868.1:p.Asn65fs, NP_001308874.1:p.Asn26fs, NP_001308877.1:p.Asn26fs, NP_001308876.1:p.Asn13fs, NP_001366271.1:p.Asn26fs

                  9.

                  rs1425263684 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    13:101827912 (GRCh38)
                    13:102480262 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:101827911:G:A
                    Gene:
                    FGF14 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.00008/1 (ALFA)
                    HGVS:

                    10.

                    rs1424685796 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      13:101827907 (GRCh38)
                      13:102480257 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:101827906:C:T
                      Gene:
                      FGF14 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1422290980 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        13:101875221 (GRCh38)
                        13:102527571 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:101875220:G:A
                        Gene:
                        FGF14 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000013.11:g.101875221G>A, NC_000013.10:g.102527571G>A, NG_008317.2:g.531554C>T, NM_175929.2:c.284C>T, NM_175929.3:c.284C>T, NM_001321937.2:c.284C>T, NM_001321937.1:c.284C>T, NM_001321949.1:c.17C>T, NM_001321944.1:c.80C>T, NM_001321940.1:c.89C>T, NM_001321943.1:c.17C>T, NM_001321942.1:c.17C>T, NM_001321932.1:c.80C>T, NM_001321931.1:c.17C>T, NM_001321933.1:c.89C>T, NM_001321936.1:c.80C>T, NM_001321934.1:c.17C>T, NM_001321935.1:c.17C>T, NM_004115.4:c.269C>T, NM_004115.3:c.269C>T, NM_001321938.2:c.89C>T, NM_001321938.1:c.89C>T, NM_001321941.2:c.83C>T, NM_001321941.1:c.83C>T, NM_001321946.2:c.17C>T, NM_001321946.1:c.17C>T, NM_001321945.2:c.167C>T, NM_001321945.1:c.167C>T, NM_001321948.2:c.167C>T, NM_001321948.1:c.167C>T, NM_001321947.2:c.128C>T, NM_001321947.1:c.128C>T, NM_001379342.1:c.167C>T, NP_787125.1:p.Ala95Val, NP_001308866.1:p.Ala95Val, NP_001308878.1:p.Ala6Val, NP_001308873.1:p.Ala27Val, NP_001308869.1:p.Ala30Val, NP_001308872.1:p.Ala6Val, NP_001308871.1:p.Ala6Val, NP_001308861.1:p.Ala27Val, NP_001308860.1:p.Ala6Val, NP_001308862.1:p.Ala30Val, NP_001308865.1:p.Ala27Val, NP_001308863.1:p.Ala6Val, NP_001308864.1:p.Ala6Val, NP_004106.1:p.Ala90Val, NP_001308867.1:p.Ala30Val, NP_001308870.1:p.Ala28Val, NP_001308875.1:p.Ala6Val, NP_001308874.1:p.Ala56Val, NP_001308877.1:p.Ala56Val, NP_001308876.1:p.Ala43Val, NP_001366271.1:p.Ala56Val

                        12.

                        rs1398757122 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          13:101875237 (GRCh38)
                          13:102527587 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:101875236:T:C
                          Gene:
                          FGF14 (Varview)
                          Functional Consequence:
                          missense_variant,initiator_codon_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000013.11:g.101875237T>C, NC_000013.10:g.102527587T>C, NG_008317.2:g.531538A>G, NM_175929.2:c.268A>G, NM_175929.3:c.268A>G, NM_001321937.2:c.268A>G, NM_001321937.1:c.268A>G, NM_001321949.1:c.1A>G, NM_001321944.1:c.64A>G, NM_001321940.1:c.73A>G, NM_001321943.1:c.1A>G, NM_001321942.1:c.1A>G, NM_001321932.1:c.64A>G, NM_001321931.1:c.1A>G, NM_001321933.1:c.73A>G, NM_001321936.1:c.64A>G, NM_001321934.1:c.1A>G, NM_001321935.1:c.1A>G, NM_004115.4:c.253A>G, NM_004115.3:c.253A>G, NM_001321938.2:c.73A>G, NM_001321938.1:c.73A>G, NM_001321941.2:c.67A>G, NM_001321941.1:c.67A>G, NM_001321946.2:c.1A>G, NM_001321946.1:c.1A>G, NM_001321945.2:c.151A>G, NM_001321945.1:c.151A>G, NM_001321948.2:c.151A>G, NM_001321948.1:c.151A>G, NM_001321947.2:c.112A>G, NM_001321947.1:c.112A>G, NM_001379342.1:c.151A>G, NP_787125.1:p.Met90Val, NP_001308866.1:p.Met90Val, NP_001308878.1:p.Met1Val, NP_001308873.1:p.Met22Val, NP_001308869.1:p.Met25Val, NP_001308872.1:p.Met1Val, NP_001308871.1:p.Met1Val, NP_001308861.1:p.Met22Val, NP_001308860.1:p.Met1Val, NP_001308862.1:p.Met25Val, NP_001308865.1:p.Met22Val, NP_001308863.1:p.Met1Val, NP_001308864.1:p.Met1Val, NP_004106.1:p.Met85Val, NP_001308867.1:p.Met25Val, NP_001308870.1:p.Met23Val, NP_001308875.1:p.Met1Val, NP_001308874.1:p.Met51Val, NP_001308877.1:p.Met51Val, NP_001308876.1:p.Met38Val, NP_001366271.1:p.Met51Val

                          13.

                          rs1390234339 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            13:102401581 (GRCh38)
                            13:103053931 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:102401580:T:G
                            Gene:
                            FGF14 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1389785217 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              13:101875219 (GRCh38)
                              13:102527569 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:101875218:G:C
                              Gene:
                              FGF14 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              NC_000013.11:g.101875219G>C, NC_000013.10:g.102527569G>C, NG_008317.2:g.531556C>G, NM_175929.2:c.286C>G, NM_175929.3:c.286C>G, NM_001321937.2:c.286C>G, NM_001321937.1:c.286C>G, NM_001321949.1:c.19C>G, NM_001321944.1:c.82C>G, NM_001321940.1:c.91C>G, NM_001321943.1:c.19C>G, NM_001321942.1:c.19C>G, NM_001321932.1:c.82C>G, NM_001321931.1:c.19C>G, NM_001321933.1:c.91C>G, NM_001321936.1:c.82C>G, NM_001321934.1:c.19C>G, NM_001321935.1:c.19C>G, NM_004115.4:c.271C>G, NM_004115.3:c.271C>G, NM_001321938.2:c.91C>G, NM_001321938.1:c.91C>G, NM_001321941.2:c.85C>G, NM_001321941.1:c.85C>G, NM_001321946.2:c.19C>G, NM_001321946.1:c.19C>G, NM_001321945.2:c.169C>G, NM_001321945.1:c.169C>G, NM_001321948.2:c.169C>G, NM_001321948.1:c.169C>G, NM_001321947.2:c.130C>G, NM_001321947.1:c.130C>G, NM_001379342.1:c.169C>G, NP_787125.1:p.Leu96Val, NP_001308866.1:p.Leu96Val, NP_001308878.1:p.Leu7Val, NP_001308873.1:p.Leu28Val, NP_001308869.1:p.Leu31Val, NP_001308872.1:p.Leu7Val, NP_001308871.1:p.Leu7Val, NP_001308861.1:p.Leu28Val, NP_001308860.1:p.Leu7Val, NP_001308862.1:p.Leu31Val, NP_001308865.1:p.Leu28Val, NP_001308863.1:p.Leu7Val, NP_001308864.1:p.Leu7Val, NP_004106.1:p.Leu91Val, NP_001308867.1:p.Leu31Val, NP_001308870.1:p.Leu29Val, NP_001308875.1:p.Leu7Val, NP_001308874.1:p.Leu57Val, NP_001308877.1:p.Leu57Val, NP_001308876.1:p.Leu44Val, NP_001366271.1:p.Leu57Val

                              15.

                              rs1389292848 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                13:101827918 (GRCh38)
                                13:102480268 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:101827917:A:G
                                Gene:
                                FGF14 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000008/1 (GnomAD)
                                HGVS:

                                16.

                                rs1373515614 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:101868765 (GRCh38)
                                  13:102521115 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:101868764:A:G
                                  Gene:
                                  FGF14 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000111/1 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000013.11:g.101868765A>G, NC_000013.10:g.102521115A>G, NG_008317.2:g.538010T>C, NM_175929.2:c.383T>C, NM_175929.3:c.383T>C, NM_001321937.2:c.383T>C, NM_001321937.1:c.383T>C, NM_001321949.1:c.116T>C, NM_001321944.1:c.179T>C, NM_001321940.1:c.188T>C, NM_001321943.1:c.116T>C, NM_001321942.1:c.116T>C, NM_001321932.1:c.179T>C, NM_001321931.1:c.116T>C, NM_001321933.1:c.188T>C, NM_001321936.1:c.179T>C, NM_001321934.1:c.116T>C, NM_001321935.1:c.116T>C, NM_004115.4:c.368T>C, NM_004115.3:c.368T>C, NM_001321938.2:c.188T>C, NM_001321938.1:c.188T>C, NM_001321941.2:c.182T>C, NM_001321941.1:c.182T>C, NM_001321946.2:c.116T>C, NM_001321946.1:c.116T>C, NM_001321939.2:c.272T>C, NM_001321939.1:c.272T>C, NM_001321945.2:c.266T>C, NM_001321945.1:c.266T>C, NM_001321948.2:c.266T>C, NM_001321948.1:c.266T>C, NM_001321947.2:c.227T>C, NM_001321947.1:c.227T>C, NM_001379342.1:c.266T>C, NP_787125.1:p.Leu128Ser, NP_001308866.1:p.Leu128Ser, NP_001308878.1:p.Leu39Ser, NP_001308873.1:p.Leu60Ser, NP_001308869.1:p.Leu63Ser, NP_001308872.1:p.Leu39Ser, NP_001308871.1:p.Leu39Ser, NP_001308861.1:p.Leu60Ser, NP_001308860.1:p.Leu39Ser, NP_001308862.1:p.Leu63Ser, NP_001308865.1:p.Leu60Ser, NP_001308863.1:p.Leu39Ser, NP_001308864.1:p.Leu39Ser, NP_004106.1:p.Leu123Ser, NP_001308867.1:p.Leu63Ser, NP_001308870.1:p.Leu61Ser, NP_001308875.1:p.Leu39Ser, NP_001308868.1:p.Leu91Ser, NP_001308874.1:p.Leu89Ser, NP_001308877.1:p.Leu89Ser, NP_001308876.1:p.Leu76Ser, NP_001366271.1:p.Leu89Ser

                                  17.

                                  rs1367765040 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    13:102401599 (GRCh38)
                                    13:103053949 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:102401598:C:T
                                    Gene:
                                    FGF14 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,splice_acceptor_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1366960540 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:101875226 (GRCh38)
                                      13:102527576 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:101875225:A:G
                                      Gene:
                                      FGF14 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000012/3 (GnomAD_exomes)
                                      G=0.000038/10 (TOPMED)
                                      HGVS:
                                      NC_000013.11:g.101875226A>G, NC_000013.10:g.102527576A>G, NG_008317.2:g.531549T>C, NM_175929.2:c.279T>C, NM_175929.3:c.279T>C, NM_001321937.2:c.279T>C, NM_001321937.1:c.279T>C, NM_001321949.1:c.12T>C, NM_001321944.1:c.75T>C, NM_001321940.1:c.84T>C, NM_001321943.1:c.12T>C, NM_001321942.1:c.12T>C, NM_001321932.1:c.75T>C, NM_001321931.1:c.12T>C, NM_001321933.1:c.84T>C, NM_001321936.1:c.75T>C, NM_001321934.1:c.12T>C, NM_001321935.1:c.12T>C, NM_004115.4:c.264T>C, NM_004115.3:c.264T>C, NM_001321938.2:c.84T>C, NM_001321938.1:c.84T>C, NM_001321941.2:c.78T>C, NM_001321941.1:c.78T>C, NM_001321946.2:c.12T>C, NM_001321946.1:c.12T>C, NM_001321945.2:c.162T>C, NM_001321945.1:c.162T>C, NM_001321948.2:c.162T>C, NM_001321948.1:c.162T>C, NM_001321947.2:c.123T>C, NM_001321947.1:c.123T>C, NM_001379342.1:c.162T>C

                                      19.

                                      rs1366241193 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        13:102401647 (GRCh38)
                                        13:103053997 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:102401646:G:A,NC_000013.11:102401646:G:C
                                        Gene:
                                        FGF14 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000013.11:g.102401647G>A, NC_000013.11:g.102401647G>C, NC_000013.10:g.103053997G>A, NC_000013.10:g.103053997G>C, NG_008317.2:g.5128C>T, NG_008317.2:g.5128C>G, NM_175929.2:c.32C>T, NM_175929.2:c.32C>G, NM_175929.3:c.32C>T, NM_175929.3:c.32C>G, NM_001321937.2:c.32C>T, NM_001321937.2:c.32C>G, NM_001321937.1:c.32C>T, NM_001321937.1:c.32C>G, NM_001321949.1:c.-405C>T, NM_001321949.1:c.-405C>G, NM_001321944.1:c.-500C>T, NM_001321944.1:c.-500C>G, NM_001321940.1:c.-401C>T, NM_001321940.1:c.-401C>G, NM_001321943.1:c.-347C>T, NM_001321943.1:c.-347C>G, NM_001321942.1:c.-310C>T, NM_001321942.1:c.-310C>G, NM_001321941.2:c.-237C>T, NM_001321941.2:c.-237C>G, NM_001321941.1:c.-237C>T, NM_001321941.1:c.-237C>G, NM_001321939.2:c.32C>T, NM_001321939.2:c.32C>G, NM_001321939.1:c.32C>T, NM_001321939.1:c.32C>G, NP_787125.1:p.Thr11Ile, NP_787125.1:p.Thr11Ser, NP_001308866.1:p.Thr11Ile, NP_001308866.1:p.Thr11Ser, NP_001308868.1:p.Thr11Ile, NP_001308868.1:p.Thr11Ser

                                        20.

                                        rs1346163352 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          13:102401563 (GRCh38)
                                          13:103053913 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:102401562:G:A,NC_000013.11:102401562:G:T
                                          Gene:
                                          FGF14 (Varview)
                                          Functional Consequence:
                                          stop_gained,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.102401563G>A, NC_000013.11:g.102401563G>T, NC_000013.10:g.103053913G>A, NC_000013.10:g.103053913G>T, NG_008317.2:g.5212C>T, NG_008317.2:g.5212C>A, NM_175929.2:c.116C>T, NM_175929.2:c.116C>A, NM_175929.3:c.116C>T, NM_175929.3:c.116C>A, NM_001321937.2:c.116C>T, NM_001321937.2:c.116C>A, NM_001321937.1:c.116C>T, NM_001321937.1:c.116C>A, NM_001321949.1:c.-321C>T, NM_001321949.1:c.-321C>A, NM_001321944.1:c.-416C>T, NM_001321944.1:c.-416C>A, NM_001321940.1:c.-317C>T, NM_001321940.1:c.-317C>A, NM_001321943.1:c.-263C>T, NM_001321943.1:c.-263C>A, NM_001321942.1:c.-226C>T, NM_001321942.1:c.-226C>A, NM_001321938.2:c.-317C>T, NM_001321938.2:c.-317C>A, NM_001321938.1:c.-317C>T, NM_001321938.1:c.-317C>A, NM_001321941.2:c.-153C>T, NM_001321941.2:c.-153C>A, NM_001321941.1:c.-153C>T, NM_001321941.1:c.-153C>A, NM_001321939.2:c.116C>T, NM_001321939.2:c.116C>A, NM_001321939.1:c.116C>T, NM_001321939.1:c.116C>A, NM_001321945.2:c.-2C>T, NM_001321945.2:c.-2C>A, NM_001321945.1:c.-2C>T, NM_001321945.1:c.-2C>A, NM_001321948.2:c.-2C>T, NM_001321948.2:c.-2C>A, NM_001321948.1:c.-2C>T, NM_001321948.1:c.-2C>A, NM_001379342.1:c.-2C>T, NM_001379342.1:c.-2C>A, NP_787125.1:p.Ser39Leu, NP_787125.1:p.Ser39Ter, NP_001308866.1:p.Ser39Leu, NP_001308866.1:p.Ser39Ter, NP_001308868.1:p.Ser39Leu, NP_001308868.1:p.Ser39Ter

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