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Items: 1 to 20 of 1876

1.

rs1490831947 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    2:166036162 (GRCh38)
    2:166892672 (GRCh37)
    Canonical SPDI:
    NC_000002.12:166036161:G:A,NC_000002.12:166036161:G:C
    Gene:
    SCN1A (Varview), LOC102724058 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000111/1 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.166036162G>A, NC_000002.12:g.166036162G>C, NC_000002.11:g.166892672G>A, NC_000002.11:g.166892672G>C, NG_011906.1:g.42478C>T, NG_011906.1:g.42478C>G, NM_006920.6:c.3282C>T, NM_006920.6:c.3282C>G, NM_006920.5:c.3282C>T, NM_006920.5:c.3282C>G, NM_006920.4:c.3282C>T, NM_006920.4:c.3282C>G, NM_001165963.4:c.3315C>T, NM_001165963.4:c.3315C>G, NM_001165963.3:c.3315C>T, NM_001165963.3:c.3315C>G, NM_001165963.2:c.3315C>T, NM_001165963.2:c.3315C>G, NM_001165963.1:c.3315C>T, NM_001165963.1:c.3315C>G, NM_001202435.3:c.3315C>T, NM_001202435.3:c.3315C>G, NM_001202435.2:c.3315C>T, NM_001202435.2:c.3315C>G, NM_001202435.1:c.3315C>T, NM_001202435.1:c.3315C>G, NM_001165964.3:c.3231C>T, NM_001165964.3:c.3231C>G, NM_001165964.2:c.3231C>T, NM_001165964.2:c.3231C>G, NM_001165964.1:c.3231C>T, NM_001165964.1:c.3231C>G, NM_001353961.2:c.873C>T, NM_001353961.2:c.873C>G, NM_001353961.1:c.873C>T, NM_001353961.1:c.873C>G, NM_001353950.2:c.3282C>T, NM_001353950.2:c.3282C>G, NM_001353950.1:c.3282C>T, NM_001353950.1:c.3282C>G, NM_001353952.2:c.3282C>T, NM_001353952.2:c.3282C>G, NM_001353952.1:c.3282C>T, NM_001353952.1:c.3282C>G, NM_001353954.2:c.3279C>T, NM_001353954.2:c.3279C>G, NM_001353954.1:c.3279C>T, NM_001353954.1:c.3279C>G, NR_148667.2:n.3668C>T, NR_148667.2:n.3668C>G, NR_148667.1:n.3687C>T, NR_148667.1:n.3687C>G, NM_001353958.2:c.3231C>T, NM_001353958.2:c.3231C>G, NM_001353958.1:c.3231C>T, NM_001353958.1:c.3231C>G, NM_001353948.2:c.3315C>T, NM_001353948.2:c.3315C>G, NM_001353948.1:c.3315C>T, NM_001353948.1:c.3315C>G, NM_001353960.2:c.3228C>T, NM_001353960.2:c.3228C>G, NM_001353960.1:c.3228C>T, NM_001353960.1:c.3228C>G, NM_001353949.2:c.3282C>T, NM_001353949.2:c.3282C>G, NM_001353949.1:c.3282C>T, NM_001353949.1:c.3282C>G, NM_001353951.2:c.3282C>T, NM_001353951.2:c.3282C>G, NM_001353951.1:c.3282C>T, NM_001353951.1:c.3282C>G, NM_001353955.2:c.3279C>T, NM_001353955.2:c.3279C>G, NM_001353955.1:c.3279C>T, NM_001353955.1:c.3279C>G, NM_001353957.2:c.3231C>T, NM_001353957.2:c.3231C>G, NM_001353957.1:c.3231C>T, NM_001353957.1:c.3231C>G, XM_047445392.1:c.3312C>T, XM_047445392.1:c.3312C>G, XM_047445393.1:c.3315C>T, XM_047445393.1:c.3315C>G, NR_110598.1:n.502G>A, NR_110598.1:n.502G>C, NP_008851.3:p.Phe1094Leu, NP_001159435.1:p.Phe1105Leu, NP_001189364.1:p.Phe1105Leu, NP_001159436.1:p.Phe1077Leu, NP_001340890.1:p.Phe291Leu, NP_001340879.1:p.Phe1094Leu, NP_001340881.1:p.Phe1094Leu, NP_001340883.1:p.Phe1093Leu, NP_001340887.1:p.Phe1077Leu, NP_001340877.1:p.Phe1105Leu, NP_001340889.1:p.Phe1076Leu, NP_001340878.1:p.Phe1094Leu, NP_001340880.1:p.Phe1094Leu, NP_001340884.1:p.Phe1093Leu, NP_001340886.1:p.Phe1077Leu, XP_047301348.1:p.Phe1104Leu, XP_047301349.1:p.Phe1105Leu

    2.

    rs1490675512 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:166045138 (GRCh38)
      2:166901648 (GRCh37)
      Canonical SPDI:
      NC_000002.12:166045137:A:G
      Gene:
      SCN1A (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000002.12:g.166045138A>G, NC_000002.11:g.166901648A>G, NG_011906.1:g.33502T>C, NM_006920.6:c.1567T>C, NM_006920.5:c.1567T>C, NM_006920.4:c.1567T>C, NM_001165963.4:c.1567T>C, NM_001165963.3:c.1567T>C, NM_001165963.2:c.1567T>C, NM_001165963.1:c.1567T>C, NM_001202435.3:c.1567T>C, NM_001202435.2:c.1567T>C, NM_001202435.1:c.1567T>C, NM_001165964.3:c.1567T>C, NM_001165964.2:c.1567T>C, NM_001165964.1:c.1567T>C, NM_001353961.2:c.-859T>C, NM_001353961.1:c.-859T>C, NM_001353950.2:c.1567T>C, NM_001353950.1:c.1567T>C, NM_001353952.2:c.1567T>C, NM_001353952.1:c.1567T>C, NM_001353954.2:c.1564T>C, NM_001353954.1:c.1564T>C, NR_148667.2:n.1953T>C, NR_148667.1:n.1972T>C, NM_001353958.2:c.1567T>C, NM_001353958.1:c.1567T>C, NM_001353948.2:c.1567T>C, NM_001353948.1:c.1567T>C, NM_001353960.2:c.1564T>C, NM_001353960.1:c.1564T>C, NM_001353949.2:c.1567T>C, NM_001353949.1:c.1567T>C, NM_001353951.2:c.1567T>C, NM_001353951.1:c.1567T>C, NM_001353955.2:c.1564T>C, NM_001353955.1:c.1564T>C, NM_001353957.2:c.1567T>C, NM_001353957.1:c.1567T>C, XM_047445392.1:c.1564T>C, XM_047445393.1:c.1567T>C, NP_008851.3:p.Ser523Pro, NP_001159435.1:p.Ser523Pro, NP_001189364.1:p.Ser523Pro, NP_001159436.1:p.Ser523Pro, NP_001340879.1:p.Ser523Pro, NP_001340881.1:p.Ser523Pro, NP_001340883.1:p.Ser522Pro, NP_001340887.1:p.Ser523Pro, NP_001340877.1:p.Ser523Pro, NP_001340889.1:p.Ser522Pro, NP_001340878.1:p.Ser523Pro, NP_001340880.1:p.Ser523Pro, NP_001340884.1:p.Ser522Pro, NP_001340886.1:p.Ser523Pro, XP_047301348.1:p.Ser522Pro, XP_047301349.1:p.Ser523Pro

      3.

      rs1490209867 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:165992377 (GRCh38)
        2:166848887 (GRCh37)
        Canonical SPDI:
        NC_000002.12:165992376:G:A
        Gene:
        SCN1A (Varview), LOC102724058 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.165992377G>A, NC_000002.11:g.166848887G>A, NG_011906.1:g.86263C>T, NM_006920.6:c.4865C>T, NM_006920.5:c.4865C>T, NM_006920.4:c.4865C>T, NM_001165963.4:c.4898C>T, NM_001165963.3:c.4898C>T, NM_001165963.2:c.4898C>T, NM_001165963.1:c.4898C>T, NM_001202435.3:c.4898C>T, NM_001202435.2:c.4898C>T, NM_001202435.1:c.4898C>T, NM_001165964.3:c.4814C>T, NM_001165964.2:c.4814C>T, NM_001165964.1:c.4814C>T, NM_001353961.2:c.2456C>T, NM_001353961.1:c.2456C>T, NM_001353950.2:c.4865C>T, NM_001353950.1:c.4865C>T, NM_001353952.2:c.4865C>T, NM_001353952.1:c.4865C>T, NM_001353954.2:c.4862C>T, NM_001353954.1:c.4862C>T, NR_148667.2:n.5315C>T, NR_148667.1:n.5334C>T, NM_001353958.2:c.4814C>T, NM_001353958.1:c.4814C>T, NM_001353948.2:c.4898C>T, NM_001353948.1:c.4898C>T, NM_001353960.2:c.4811C>T, NM_001353960.1:c.4811C>T, NM_001353949.2:c.4865C>T, NM_001353949.1:c.4865C>T, NM_001353951.2:c.4865C>T, NM_001353951.1:c.4865C>T, NM_001353955.2:c.4862C>T, NM_001353955.1:c.4862C>T, NM_001353957.2:c.4814C>T, NM_001353957.1:c.4814C>T, XM_047445392.1:c.4895C>T, NP_008851.3:p.Thr1622Ile, NP_001159435.1:p.Thr1633Ile, NP_001189364.1:p.Thr1633Ile, NP_001159436.1:p.Thr1605Ile, NP_001340890.1:p.Thr819Ile, NP_001340879.1:p.Thr1622Ile, NP_001340881.1:p.Thr1622Ile, NP_001340883.1:p.Thr1621Ile, NP_001340887.1:p.Thr1605Ile, NP_001340877.1:p.Thr1633Ile, NP_001340889.1:p.Thr1604Ile, NP_001340878.1:p.Thr1622Ile, NP_001340880.1:p.Thr1622Ile, NP_001340884.1:p.Thr1621Ile, NP_001340886.1:p.Thr1605Ile, XP_047301348.1:p.Thr1632Ile

        4.

        rs1489662325 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          2:166073551 (GRCh38)
          2:166930061 (GRCh37)
          Canonical SPDI:
          NC_000002.12:166073550:G:C
          Gene:
          SCN1A (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.166073551G>C, NC_000002.11:g.166930061G>C, NG_011906.1:g.5089C>G, NM_006920.6:c.71C>G, NM_006920.5:c.71C>G, NM_006920.4:c.71C>G, NM_001165963.4:c.71C>G, NM_001165963.3:c.71C>G, NM_001165963.2:c.71C>G, NM_001165963.1:c.71C>G, NM_001202435.3:c.71C>G, NM_001202435.2:c.71C>G, NM_001202435.1:c.71C>G, NM_001165964.3:c.71C>G, NM_001165964.2:c.71C>G, NM_001165964.1:c.71C>G, NM_001353961.2:c.-2355C>G, NM_001353961.1:c.-2355C>G, NM_001353950.2:c.71C>G, NM_001353950.1:c.71C>G, NM_001353952.2:c.71C>G, NM_001353952.1:c.71C>G, NM_001353954.2:c.71C>G, NM_001353954.1:c.71C>G, NR_148667.2:n.457C>G, NR_148667.1:n.476C>G, NM_001353958.2:c.71C>G, NM_001353958.1:c.71C>G, NM_001353948.2:c.71C>G, NM_001353948.1:c.71C>G, NM_001353960.2:c.71C>G, NM_001353960.1:c.71C>G, NM_001353949.2:c.71C>G, NM_001353949.1:c.71C>G, NM_001353951.2:c.71C>G, NM_001353951.1:c.71C>G, NM_001353955.2:c.71C>G, NM_001353955.1:c.71C>G, NM_001353957.2:c.71C>G, NM_001353957.1:c.71C>G, XM_047445392.1:c.71C>G, XM_047445393.1:c.71C>G, NP_008851.3:p.Ala24Gly, NP_001159435.1:p.Ala24Gly, NP_001189364.1:p.Ala24Gly, NP_001159436.1:p.Ala24Gly, NP_001340879.1:p.Ala24Gly, NP_001340881.1:p.Ala24Gly, NP_001340883.1:p.Ala24Gly, NP_001340887.1:p.Ala24Gly, NP_001340877.1:p.Ala24Gly, NP_001340889.1:p.Ala24Gly, NP_001340878.1:p.Ala24Gly, NP_001340880.1:p.Ala24Gly, NP_001340884.1:p.Ala24Gly, NP_001340886.1:p.Ala24Gly, XP_047301348.1:p.Ala24Gly, XP_047301349.1:p.Ala24Gly

          5.

          rs1489623233 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            2:166043807 (GRCh38)
            2:166900317 (GRCh37)
            Canonical SPDI:
            NC_000002.12:166043806:A:C
            Gene:
            SCN1A (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            C=0.000035/1 (TOMMO)
            HGVS:
            NC_000002.12:g.166043807A>C, NC_000002.11:g.166900317A>C, NG_011906.1:g.34833T>G, NM_006920.6:c.1905T>G, NM_006920.5:c.1905T>G, NM_006920.4:c.1905T>G, NM_001165963.4:c.1905T>G, NM_001165963.3:c.1905T>G, NM_001165963.2:c.1905T>G, NM_001165963.1:c.1905T>G, NM_001202435.3:c.1905T>G, NM_001202435.2:c.1905T>G, NM_001202435.1:c.1905T>G, NM_001165964.3:c.1905T>G, NM_001165964.2:c.1905T>G, NM_001165964.1:c.1905T>G, NM_001353961.2:c.-521T>G, NM_001353961.1:c.-521T>G, NM_001353950.2:c.1905T>G, NM_001353950.1:c.1905T>G, NM_001353952.2:c.1905T>G, NM_001353952.1:c.1905T>G, NM_001353954.2:c.1902T>G, NM_001353954.1:c.1902T>G, NR_148667.2:n.2291T>G, NR_148667.1:n.2310T>G, NM_001353958.2:c.1905T>G, NM_001353958.1:c.1905T>G, NM_001353948.2:c.1905T>G, NM_001353948.1:c.1905T>G, NM_001353960.2:c.1902T>G, NM_001353960.1:c.1902T>G, NM_001353949.2:c.1905T>G, NM_001353949.1:c.1905T>G, NM_001353951.2:c.1905T>G, NM_001353951.1:c.1905T>G, NM_001353955.2:c.1902T>G, NM_001353955.1:c.1902T>G, NM_001353957.2:c.1905T>G, NM_001353957.1:c.1905T>G, XM_047445392.1:c.1902T>G, XM_047445393.1:c.1905T>G, NP_008851.3:p.Phe635Leu, NP_001159435.1:p.Phe635Leu, NP_001189364.1:p.Phe635Leu, NP_001159436.1:p.Phe635Leu, NP_001340879.1:p.Phe635Leu, NP_001340881.1:p.Phe635Leu, NP_001340883.1:p.Phe634Leu, NP_001340887.1:p.Phe635Leu, NP_001340877.1:p.Phe635Leu, NP_001340889.1:p.Phe634Leu, NP_001340878.1:p.Phe635Leu, NP_001340880.1:p.Phe635Leu, NP_001340884.1:p.Phe634Leu, NP_001340886.1:p.Phe635Leu, XP_047301348.1:p.Phe634Leu, XP_047301349.1:p.Phe635Leu

            6.

            rs1488435686 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              2:165991995 (GRCh38)
              2:166848505 (GRCh37)
              Canonical SPDI:
              NC_000002.12:165991994:A:G
              Gene:
              SCN1A (Varview), LOC102724058 (Varview)
              Functional Consequence:
              intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000002.12:g.165991995A>G, NC_000002.11:g.166848505A>G, NG_011906.1:g.86645T>C, NM_006920.6:c.5247T>C, NM_006920.5:c.5247T>C, NM_006920.4:c.5247T>C, NM_001165963.4:c.5280T>C, NM_001165963.3:c.5280T>C, NM_001165963.2:c.5280T>C, NM_001165963.1:c.5280T>C, NM_001202435.3:c.5280T>C, NM_001202435.2:c.5280T>C, NM_001202435.1:c.5280T>C, NM_001165964.3:c.5196T>C, NM_001165964.2:c.5196T>C, NM_001165964.1:c.5196T>C, NM_001353961.2:c.2838T>C, NM_001353961.1:c.2838T>C, NM_001353950.2:c.5247T>C, NM_001353950.1:c.5247T>C, NM_001353952.2:c.5247T>C, NM_001353952.1:c.5247T>C, NM_001353954.2:c.5244T>C, NM_001353954.1:c.5244T>C, NR_148667.2:n.5697T>C, NR_148667.1:n.5716T>C, NM_001353958.2:c.5196T>C, NM_001353958.1:c.5196T>C, NM_001353948.2:c.5280T>C, NM_001353948.1:c.5280T>C, NM_001353960.2:c.5193T>C, NM_001353960.1:c.5193T>C, NM_001353949.2:c.5247T>C, NM_001353949.1:c.5247T>C, NM_001353951.2:c.5247T>C, NM_001353951.1:c.5247T>C, NM_001353955.2:c.5244T>C, NM_001353955.1:c.5244T>C, NM_001353957.2:c.5196T>C, NM_001353957.1:c.5196T>C, XM_047445392.1:c.5277T>C

              7.

              rs1487310211 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:165991426 (GRCh38)
                2:166847936 (GRCh37)
                Canonical SPDI:
                NC_000002.12:165991425:C:T
                Gene:
                SCN1A (Varview), LOC102724058 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000047/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.165991426C>T, NC_000002.11:g.166847936C>T, NG_011906.1:g.87214G>A, NM_006920.6:c.5816G>A, NM_006920.5:c.5816G>A, NM_006920.4:c.5816G>A, NM_001165963.4:c.5849G>A, NM_001165963.3:c.5849G>A, NM_001165963.2:c.5849G>A, NM_001165963.1:c.5849G>A, NM_001202435.3:c.5849G>A, NM_001202435.2:c.5849G>A, NM_001202435.1:c.5849G>A, NM_001165964.3:c.5765G>A, NM_001165964.2:c.5765G>A, NM_001165964.1:c.5765G>A, NM_001353961.2:c.3407G>A, NM_001353961.1:c.3407G>A, NM_001353950.2:c.5816G>A, NM_001353950.1:c.5816G>A, NM_001353952.2:c.5816G>A, NM_001353952.1:c.5816G>A, NM_001353954.2:c.5813G>A, NM_001353954.1:c.5813G>A, NR_148667.2:n.6266G>A, NR_148667.1:n.6285G>A, NM_001353958.2:c.5765G>A, NM_001353958.1:c.5765G>A, NM_001353948.2:c.5849G>A, NM_001353948.1:c.5849G>A, NM_001353960.2:c.5762G>A, NM_001353960.1:c.5762G>A, NM_001353949.2:c.5816G>A, NM_001353949.1:c.5816G>A, NM_001353951.2:c.5816G>A, NM_001353951.1:c.5816G>A, NM_001353955.2:c.5813G>A, NM_001353955.1:c.5813G>A, NM_001353957.2:c.5765G>A, NM_001353957.1:c.5765G>A, XM_047445392.1:c.5846G>A, NP_008851.3:p.Gly1939Glu, NP_001159435.1:p.Gly1950Glu, NP_001189364.1:p.Gly1950Glu, NP_001159436.1:p.Gly1922Glu, NP_001340890.1:p.Gly1136Glu, NP_001340879.1:p.Gly1939Glu, NP_001340881.1:p.Gly1939Glu, NP_001340883.1:p.Gly1938Glu, NP_001340887.1:p.Gly1922Glu, NP_001340877.1:p.Gly1950Glu, NP_001340889.1:p.Gly1921Glu, NP_001340878.1:p.Gly1939Glu, NP_001340880.1:p.Gly1939Glu, NP_001340884.1:p.Gly1938Glu, NP_001340886.1:p.Gly1922Glu, XP_047301348.1:p.Gly1949Glu

                8.

                rs1486646296 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  2:166047753 (GRCh38)
                  2:166904263 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:166047752:T:A
                  Gene:
                  SCN1A (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.0005/1 (Korea1K)
                  HGVS:
                  NC_000002.12:g.166047753T>A, NC_000002.11:g.166904263T>A, NG_011906.1:g.30887A>T, NM_006920.6:c.1044A>T, NM_006920.5:c.1044A>T, NM_006920.4:c.1044A>T, NM_001165963.4:c.1044A>T, NM_001165963.3:c.1044A>T, NM_001165963.2:c.1044A>T, NM_001165963.1:c.1044A>T, NM_001202435.3:c.1044A>T, NM_001202435.2:c.1044A>T, NM_001202435.1:c.1044A>T, NM_001165964.3:c.1044A>T, NM_001165964.2:c.1044A>T, NM_001165964.1:c.1044A>T, NM_001353961.2:c.-1382A>T, NM_001353961.1:c.-1382A>T, NM_001353950.2:c.1044A>T, NM_001353950.1:c.1044A>T, NM_001353952.2:c.1044A>T, NM_001353952.1:c.1044A>T, NM_001353954.2:c.1044A>T, NM_001353954.1:c.1044A>T, NR_148667.2:n.1430A>T, NR_148667.1:n.1449A>T, NM_001353958.2:c.1044A>T, NM_001353958.1:c.1044A>T, NM_001353948.2:c.1044A>T, NM_001353948.1:c.1044A>T, NM_001353960.2:c.1044A>T, NM_001353960.1:c.1044A>T, NM_001353949.2:c.1044A>T, NM_001353949.1:c.1044A>T, NM_001353951.2:c.1044A>T, NM_001353951.1:c.1044A>T, NM_001353955.2:c.1044A>T, NM_001353955.1:c.1044A>T, NM_001353957.2:c.1044A>T, NM_001353957.1:c.1044A>T, XM_047445392.1:c.1044A>T, XM_047445393.1:c.1044A>T

                  9.

                  rs1486312744 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->ATATA [Show Flanks]
                    Chromosome:
                    2:166036175 (GRCh38)
                    2:166892686 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:166036175::ATATA
                    Gene:
                    SCN1A (Varview), LOC102724058 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                    HGVS:
                    NC_000002.12:g.166036175_166036176insATATA, NC_000002.11:g.166892685_166892686insATATA, NG_011906.1:g.42464_42465insTATAT, NM_006920.6:c.3268_3269insTATAT, NM_006920.5:c.3268_3269insTATAT, NM_006920.4:c.3268_3269insTATAT, NM_001165963.4:c.3301_3302insTATAT, NM_001165963.3:c.3301_3302insTATAT, NM_001165963.2:c.3301_3302insTATAT, NM_001165963.1:c.3301_3302insTATAT, NM_001202435.3:c.3301_3302insTATAT, NM_001202435.2:c.3301_3302insTATAT, NM_001202435.1:c.3301_3302insTATAT, NM_001165964.3:c.3217_3218insTATAT, NM_001165964.2:c.3217_3218insTATAT, NM_001165964.1:c.3217_3218insTATAT, NM_001353961.2:c.859_860insTATAT, NM_001353961.1:c.859_860insTATAT, NM_001353950.2:c.3268_3269insTATAT, NM_001353950.1:c.3268_3269insTATAT, NM_001353952.2:c.3268_3269insTATAT, NM_001353952.1:c.3268_3269insTATAT, NM_001353954.2:c.3265_3266insTATAT, NM_001353954.1:c.3265_3266insTATAT, NR_148667.2:n.3654_3655insTATAT, NR_148667.1:n.3673_3674insTATAT, NM_001353958.2:c.3217_3218insTATAT, NM_001353958.1:c.3217_3218insTATAT, NM_001353948.2:c.3301_3302insTATAT, NM_001353948.1:c.3301_3302insTATAT, NM_001353960.2:c.3214_3215insTATAT, NM_001353960.1:c.3214_3215insTATAT, NM_001353949.2:c.3268_3269insTATAT, NM_001353949.1:c.3268_3269insTATAT, NM_001353951.2:c.3268_3269insTATAT, NM_001353951.1:c.3268_3269insTATAT, NM_001353955.2:c.3265_3266insTATAT, NM_001353955.1:c.3265_3266insTATAT, NM_001353957.2:c.3217_3218insTATAT, NM_001353957.1:c.3217_3218insTATAT, XM_047445392.1:c.3298_3299insTATAT, XM_047445393.1:c.3301_3302insTATAT, NR_110598.1:n.515_516insATATA, NP_008851.3:p.Asp1090fs, NP_001159435.1:p.Asp1101fs, NP_001189364.1:p.Asp1101fs, NP_001159436.1:p.Asp1073fs, NP_001340890.1:p.Asp287fs, NP_001340879.1:p.Asp1090fs, NP_001340881.1:p.Asp1090fs, NP_001340883.1:p.Asp1089fs, NP_001340887.1:p.Asp1073fs, NP_001340877.1:p.Asp1101fs, NP_001340889.1:p.Asp1072fs, NP_001340878.1:p.Asp1090fs, NP_001340880.1:p.Asp1090fs, NP_001340884.1:p.Asp1089fs, NP_001340886.1:p.Asp1073fs, XP_047301348.1:p.Asp1100fs, XP_047301349.1:p.Asp1101fs

                    10.

                    rs1486091347 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      2:166051888 (GRCh38)
                      2:166908398 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:166051887:C:A
                      Gene:
                      SCN1A (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.166051888C>A, NC_000002.11:g.166908398C>A, NG_011906.1:g.26752G>T, NM_006920.6:c.795G>T, NM_006920.5:c.795G>T, NM_006920.4:c.795G>T, NM_001165963.4:c.795G>T, NM_001165963.3:c.795G>T, NM_001165963.2:c.795G>T, NM_001165963.1:c.795G>T, NM_001202435.3:c.795G>T, NM_001202435.2:c.795G>T, NM_001202435.1:c.795G>T, NM_001165964.3:c.795G>T, NM_001165964.2:c.795G>T, NM_001165964.1:c.795G>T, NM_001353961.2:c.-1631G>T, NM_001353961.1:c.-1631G>T, NM_001353950.2:c.795G>T, NM_001353950.1:c.795G>T, NM_001353952.2:c.795G>T, NM_001353952.1:c.795G>T, NM_001353954.2:c.795G>T, NM_001353954.1:c.795G>T, NR_148667.2:n.1181G>T, NR_148667.1:n.1200G>T, NM_001353958.2:c.795G>T, NM_001353958.1:c.795G>T, NM_001353948.2:c.795G>T, NM_001353948.1:c.795G>T, NM_001353960.2:c.795G>T, NM_001353960.1:c.795G>T, NM_001353949.2:c.795G>T, NM_001353949.1:c.795G>T, NM_001353951.2:c.795G>T, NM_001353951.1:c.795G>T, NM_001353955.2:c.795G>T, NM_001353955.1:c.795G>T, NM_001353957.2:c.795G>T, NM_001353957.1:c.795G>T, XM_047445392.1:c.795G>T, XM_047445393.1:c.795G>T

                      11.

                      rs1485075354 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G,T [Show Flanks]
                        Chromosome:
                        2:166002628 (GRCh38)
                        2:166859138 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:166002627:A:C,NC_000002.12:166002627:A:G,NC_000002.12:166002627:A:T
                        Gene:
                        SCN1A (Varview), LOC102724058 (Varview)
                        Functional Consequence:
                        intron_variant,synonymous_variant,coding_sequence_variant,stop_gained,missense_variant,non_coding_transcript_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.166002628A>C, NC_000002.12:g.166002628A>G, NC_000002.12:g.166002628A>T, NC_000002.11:g.166859138A>C, NC_000002.11:g.166859138A>G, NC_000002.11:g.166859138A>T, NG_011906.1:g.76012T>G, NG_011906.1:g.76012T>C, NG_011906.1:g.76012T>A, NM_006920.6:c.4095T>G, NM_006920.6:c.4095T>C, NM_006920.6:c.4095T>A, NM_006920.5:c.4095T>G, NM_006920.5:c.4095T>C, NM_006920.5:c.4095T>A, NM_006920.4:c.4095T>G, NM_006920.4:c.4095T>C, NM_006920.4:c.4095T>A, NM_001165963.4:c.4128T>G, NM_001165963.4:c.4128T>C, NM_001165963.4:c.4128T>A, NM_001165963.3:c.4128T>G, NM_001165963.3:c.4128T>C, NM_001165963.3:c.4128T>A, NM_001165963.2:c.4128T>G, NM_001165963.2:c.4128T>C, NM_001165963.2:c.4128T>A, NM_001165963.1:c.4128T>G, NM_001165963.1:c.4128T>C, NM_001165963.1:c.4128T>A, NM_001202435.3:c.4128T>G, NM_001202435.3:c.4128T>C, NM_001202435.3:c.4128T>A, NM_001202435.2:c.4128T>G, NM_001202435.2:c.4128T>C, NM_001202435.2:c.4128T>A, NM_001202435.1:c.4128T>G, NM_001202435.1:c.4128T>C, NM_001202435.1:c.4128T>A, NM_001165964.3:c.4044T>G, NM_001165964.3:c.4044T>C, NM_001165964.3:c.4044T>A, NM_001165964.2:c.4044T>G, NM_001165964.2:c.4044T>C, NM_001165964.2:c.4044T>A, NM_001165964.1:c.4044T>G, NM_001165964.1:c.4044T>C, NM_001165964.1:c.4044T>A, NM_001353961.2:c.1686T>G, NM_001353961.2:c.1686T>C, NM_001353961.2:c.1686T>A, NM_001353961.1:c.1686T>G, NM_001353961.1:c.1686T>C, NM_001353961.1:c.1686T>A, NM_001353950.2:c.4095T>G, NM_001353950.2:c.4095T>C, NM_001353950.2:c.4095T>A, NM_001353950.1:c.4095T>G, NM_001353950.1:c.4095T>C, NM_001353950.1:c.4095T>A, NM_001353952.2:c.4095T>G, NM_001353952.2:c.4095T>C, NM_001353952.2:c.4095T>A, NM_001353952.1:c.4095T>G, NM_001353952.1:c.4095T>C, NM_001353952.1:c.4095T>A, NM_001353954.2:c.4092T>G, NM_001353954.2:c.4092T>C, NM_001353954.2:c.4092T>A, NM_001353954.1:c.4092T>G, NM_001353954.1:c.4092T>C, NM_001353954.1:c.4092T>A, NR_148667.2:n.4545T>G, NR_148667.2:n.4545T>C, NR_148667.2:n.4545T>A, NR_148667.1:n.4564T>G, NR_148667.1:n.4564T>C, NR_148667.1:n.4564T>A, NM_001353958.2:c.4044T>G, NM_001353958.2:c.4044T>C, NM_001353958.2:c.4044T>A, NM_001353958.1:c.4044T>G, NM_001353958.1:c.4044T>C, NM_001353958.1:c.4044T>A, NM_001353948.2:c.4128T>G, NM_001353948.2:c.4128T>C, NM_001353948.2:c.4128T>A, NM_001353948.1:c.4128T>G, NM_001353948.1:c.4128T>C, NM_001353948.1:c.4128T>A, NM_001353960.2:c.4041T>G, NM_001353960.2:c.4041T>C, NM_001353960.2:c.4041T>A, NM_001353960.1:c.4041T>G, NM_001353960.1:c.4041T>C, NM_001353960.1:c.4041T>A, NM_001353949.2:c.4095T>G, NM_001353949.2:c.4095T>C, NM_001353949.2:c.4095T>A, NM_001353949.1:c.4095T>G, NM_001353949.1:c.4095T>C, NM_001353949.1:c.4095T>A, NM_001353951.2:c.4095T>G, NM_001353951.2:c.4095T>C, NM_001353951.2:c.4095T>A, NM_001353951.1:c.4095T>G, NM_001353951.1:c.4095T>C, NM_001353951.1:c.4095T>A, NM_001353955.2:c.4092T>G, NM_001353955.2:c.4092T>C, NM_001353955.2:c.4092T>A, NM_001353955.1:c.4092T>G, NM_001353955.1:c.4092T>C, NM_001353955.1:c.4092T>A, NM_001353957.2:c.4044T>G, NM_001353957.2:c.4044T>C, NM_001353957.2:c.4044T>A, NM_001353957.1:c.4044T>G, NM_001353957.1:c.4044T>C, NM_001353957.1:c.4044T>A, XM_047445392.1:c.4125T>G, XM_047445392.1:c.4125T>C, XM_047445392.1:c.4125T>A, XM_047445393.1:c.4192T>G, XM_047445393.1:c.4192T>C, XM_047445393.1:c.4192T>A, NP_008851.3:p.Cys1365Trp, NP_008851.3:p.Cys1365Ter, NP_001159435.1:p.Cys1376Trp, NP_001159435.1:p.Cys1376Ter, NP_001189364.1:p.Cys1376Trp, NP_001189364.1:p.Cys1376Ter, NP_001159436.1:p.Cys1348Trp, NP_001159436.1:p.Cys1348Ter, NP_001340890.1:p.Cys562Trp, NP_001340890.1:p.Cys562Ter, NP_001340879.1:p.Cys1365Trp, NP_001340879.1:p.Cys1365Ter, NP_001340881.1:p.Cys1365Trp, NP_001340881.1:p.Cys1365Ter, NP_001340883.1:p.Cys1364Trp, NP_001340883.1:p.Cys1364Ter, NP_001340887.1:p.Cys1348Trp, NP_001340887.1:p.Cys1348Ter, NP_001340877.1:p.Cys1376Trp, NP_001340877.1:p.Cys1376Ter, NP_001340889.1:p.Cys1347Trp, NP_001340889.1:p.Cys1347Ter, NP_001340878.1:p.Cys1365Trp, NP_001340878.1:p.Cys1365Ter, NP_001340880.1:p.Cys1365Trp, NP_001340880.1:p.Cys1365Ter, NP_001340884.1:p.Cys1364Trp, NP_001340884.1:p.Cys1364Ter, NP_001340886.1:p.Cys1348Trp, NP_001340886.1:p.Cys1348Ter, XP_047301348.1:p.Cys1375Trp, XP_047301348.1:p.Cys1375Ter, XP_047301349.1:p.Tyr1398Asp, XP_047301349.1:p.Tyr1398His, XP_047301349.1:p.Tyr1398Asn

                        12.

                        rs1484321812 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:166036484 (GRCh38)
                          2:166892994 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:166036483:T:C
                          Gene:
                          SCN1A (Varview), LOC102724058 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,non_coding_transcript_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.166036484T>C, NC_000002.11:g.166892994T>C, NG_011906.1:g.42156A>G, NM_006920.6:c.2960A>G, NM_006920.5:c.2960A>G, NM_006920.4:c.2960A>G, NM_001165963.4:c.2993A>G, NM_001165963.3:c.2993A>G, NM_001165963.2:c.2993A>G, NM_001165963.1:c.2993A>G, NM_001202435.3:c.2993A>G, NM_001202435.2:c.2993A>G, NM_001202435.1:c.2993A>G, NM_001165964.3:c.2909A>G, NM_001165964.2:c.2909A>G, NM_001165964.1:c.2909A>G, NM_001353961.2:c.551A>G, NM_001353961.1:c.551A>G, NM_001353950.2:c.2960A>G, NM_001353950.1:c.2960A>G, NM_001353952.2:c.2960A>G, NM_001353952.1:c.2960A>G, NM_001353954.2:c.2957A>G, NM_001353954.1:c.2957A>G, NR_148667.2:n.3346A>G, NR_148667.1:n.3365A>G, NM_001353958.2:c.2909A>G, NM_001353958.1:c.2909A>G, NM_001353948.2:c.2993A>G, NM_001353948.1:c.2993A>G, NM_001353960.2:c.2906A>G, NM_001353960.1:c.2906A>G, NM_001353949.2:c.2960A>G, NM_001353949.1:c.2960A>G, NM_001353951.2:c.2960A>G, NM_001353951.1:c.2960A>G, NM_001353955.2:c.2957A>G, NM_001353955.1:c.2957A>G, NM_001353957.2:c.2909A>G, NM_001353957.1:c.2909A>G, XM_047445392.1:c.2990A>G, XM_047445393.1:c.2993A>G, NP_008851.3:p.Asp987Gly, NP_001159435.1:p.Asp998Gly, NP_001189364.1:p.Asp998Gly, NP_001159436.1:p.Asp970Gly, NP_001340890.1:p.Asp184Gly, NP_001340879.1:p.Asp987Gly, NP_001340881.1:p.Asp987Gly, NP_001340883.1:p.Asp986Gly, NP_001340887.1:p.Asp970Gly, NP_001340877.1:p.Asp998Gly, NP_001340889.1:p.Asp969Gly, NP_001340878.1:p.Asp987Gly, NP_001340880.1:p.Asp987Gly, NP_001340884.1:p.Asp986Gly, NP_001340886.1:p.Asp970Gly, XP_047301348.1:p.Asp997Gly, XP_047301349.1:p.Asp998Gly

                          13.

                          rs1484260838 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            2:166041344 (GRCh38)
                            2:166897854 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:166041343:G:A,NC_000002.12:166041343:G:C,NC_000002.12:166041343:G:T
                            Gene:
                            SCN1A (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000002.12:g.166041344G>A, NC_000002.12:g.166041344G>C, NC_000002.12:g.166041344G>T, NC_000002.11:g.166897854G>A, NC_000002.11:g.166897854G>C, NC_000002.11:g.166897854G>T, NG_011906.1:g.37296C>T, NG_011906.1:g.37296C>G, NG_011906.1:g.37296C>A, NM_006920.6:c.2269C>T, NM_006920.6:c.2269C>G, NM_006920.6:c.2269C>A, NM_006920.5:c.2269C>T, NM_006920.5:c.2269C>G, NM_006920.5:c.2269C>A, NM_006920.4:c.2269C>T, NM_006920.4:c.2269C>G, NM_006920.4:c.2269C>A, NM_001165963.4:c.2302C>T, NM_001165963.4:c.2302C>G, NM_001165963.4:c.2302C>A, NM_001165963.3:c.2302C>T, NM_001165963.3:c.2302C>G, NM_001165963.3:c.2302C>A, NM_001165963.2:c.2302C>T, NM_001165963.2:c.2302C>G, NM_001165963.2:c.2302C>A, NM_001165963.1:c.2302C>T, NM_001165963.1:c.2302C>G, NM_001165963.1:c.2302C>A, NM_001202435.3:c.2302C>T, NM_001202435.3:c.2302C>G, NM_001202435.3:c.2302C>A, NM_001202435.2:c.2302C>T, NM_001202435.2:c.2302C>G, NM_001202435.2:c.2302C>A, NM_001202435.1:c.2302C>T, NM_001202435.1:c.2302C>G, NM_001202435.1:c.2302C>A, NM_001165964.3:c.2218C>T, NM_001165964.3:c.2218C>G, NM_001165964.3:c.2218C>A, NM_001165964.2:c.2218C>T, NM_001165964.2:c.2218C>G, NM_001165964.2:c.2218C>A, NM_001165964.1:c.2218C>T, NM_001165964.1:c.2218C>G, NM_001165964.1:c.2218C>A, NM_001353961.2:c.-157C>T, NM_001353961.2:c.-157C>G, NM_001353961.2:c.-157C>A, NM_001353961.1:c.-157C>T, NM_001353961.1:c.-157C>G, NM_001353961.1:c.-157C>A, NM_001353950.2:c.2269C>T, NM_001353950.2:c.2269C>G, NM_001353950.2:c.2269C>A, NM_001353950.1:c.2269C>T, NM_001353950.1:c.2269C>G, NM_001353950.1:c.2269C>A, NM_001353952.2:c.2269C>T, NM_001353952.2:c.2269C>G, NM_001353952.2:c.2269C>A, NM_001353952.1:c.2269C>T, NM_001353952.1:c.2269C>G, NM_001353952.1:c.2269C>A, NM_001353954.2:c.2266C>T, NM_001353954.2:c.2266C>G, NM_001353954.2:c.2266C>A, NM_001353954.1:c.2266C>T, NM_001353954.1:c.2266C>G, NM_001353954.1:c.2266C>A, NR_148667.2:n.2655C>T, NR_148667.2:n.2655C>G, NR_148667.2:n.2655C>A, NR_148667.1:n.2674C>T, NR_148667.1:n.2674C>G, NR_148667.1:n.2674C>A, NM_001353958.2:c.2218C>T, NM_001353958.2:c.2218C>G, NM_001353958.2:c.2218C>A, NM_001353958.1:c.2218C>T, NM_001353958.1:c.2218C>G, NM_001353958.1:c.2218C>A, NM_001353948.2:c.2302C>T, NM_001353948.2:c.2302C>G, NM_001353948.2:c.2302C>A, NM_001353948.1:c.2302C>T, NM_001353948.1:c.2302C>G, NM_001353948.1:c.2302C>A, NM_001353960.2:c.2215C>T, NM_001353960.2:c.2215C>G, NM_001353960.2:c.2215C>A, NM_001353960.1:c.2215C>T, NM_001353960.1:c.2215C>G, NM_001353960.1:c.2215C>A, NM_001353949.2:c.2269C>T, NM_001353949.2:c.2269C>G, NM_001353949.2:c.2269C>A, NM_001353949.1:c.2269C>T, NM_001353949.1:c.2269C>G, NM_001353949.1:c.2269C>A, NM_001353951.2:c.2269C>T, NM_001353951.2:c.2269C>G, NM_001353951.2:c.2269C>A, NM_001353951.1:c.2269C>T, NM_001353951.1:c.2269C>G, NM_001353951.1:c.2269C>A, NM_001353955.2:c.2266C>T, NM_001353955.2:c.2266C>G, NM_001353955.2:c.2266C>A, NM_001353955.1:c.2266C>T, NM_001353955.1:c.2266C>G, NM_001353955.1:c.2266C>A, NM_001353957.2:c.2218C>T, NM_001353957.2:c.2218C>G, NM_001353957.2:c.2218C>A, NM_001353957.1:c.2218C>T, NM_001353957.1:c.2218C>G, NM_001353957.1:c.2218C>A, XM_047445392.1:c.2299C>T, XM_047445392.1:c.2299C>G, XM_047445392.1:c.2299C>A, XM_047445393.1:c.2302C>T, XM_047445393.1:c.2302C>G, XM_047445393.1:c.2302C>A, NP_008851.3:p.Pro757Ser, NP_008851.3:p.Pro757Ala, NP_008851.3:p.Pro757Thr, NP_001159435.1:p.Pro768Ser, NP_001159435.1:p.Pro768Ala, NP_001159435.1:p.Pro768Thr, NP_001189364.1:p.Pro768Ser, NP_001189364.1:p.Pro768Ala, NP_001189364.1:p.Pro768Thr, NP_001159436.1:p.Pro740Ser, NP_001159436.1:p.Pro740Ala, NP_001159436.1:p.Pro740Thr, NP_001340879.1:p.Pro757Ser, NP_001340879.1:p.Pro757Ala, NP_001340879.1:p.Pro757Thr, NP_001340881.1:p.Pro757Ser, NP_001340881.1:p.Pro757Ala, NP_001340881.1:p.Pro757Thr, NP_001340883.1:p.Pro756Ser, NP_001340883.1:p.Pro756Ala, NP_001340883.1:p.Pro756Thr, NP_001340887.1:p.Pro740Ser, NP_001340887.1:p.Pro740Ala, NP_001340887.1:p.Pro740Thr, NP_001340877.1:p.Pro768Ser, NP_001340877.1:p.Pro768Ala, NP_001340877.1:p.Pro768Thr, NP_001340889.1:p.Pro739Ser, NP_001340889.1:p.Pro739Ala, NP_001340889.1:p.Pro739Thr, NP_001340878.1:p.Pro757Ser, NP_001340878.1:p.Pro757Ala, NP_001340878.1:p.Pro757Thr, NP_001340880.1:p.Pro757Ser, NP_001340880.1:p.Pro757Ala, NP_001340880.1:p.Pro757Thr, NP_001340884.1:p.Pro756Ser, NP_001340884.1:p.Pro756Ala, NP_001340884.1:p.Pro756Thr, NP_001340886.1:p.Pro740Ser, NP_001340886.1:p.Pro740Ala, NP_001340886.1:p.Pro740Thr, XP_047301348.1:p.Pro767Ser, XP_047301348.1:p.Pro767Ala, XP_047301348.1:p.Pro767Thr, XP_047301349.1:p.Pro768Ser, XP_047301349.1:p.Pro768Ala, XP_047301349.1:p.Pro768Thr

                            14.

                            rs1484003948 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              2:166056437 (GRCh38)
                              2:166912947 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:166056436:G:A,NC_000002.12:166056436:G:T
                              Gene:
                              SCN1A (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                              Clinical significance:
                              likely-benign,uncertain-significance
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000002.12:g.166056437G>A, NC_000002.12:g.166056437G>T, NC_000002.11:g.166912947G>A, NC_000002.11:g.166912947G>T, NG_011906.1:g.22203C>T, NG_011906.1:g.22203C>A, NM_006920.6:c.447C>T, NM_006920.6:c.447C>A, NM_006920.5:c.447C>T, NM_006920.5:c.447C>A, NM_006920.4:c.447C>T, NM_006920.4:c.447C>A, NM_001165963.4:c.447C>T, NM_001165963.4:c.447C>A, NM_001165963.3:c.447C>T, NM_001165963.3:c.447C>A, NM_001165963.2:c.447C>T, NM_001165963.2:c.447C>A, NM_001165963.1:c.447C>T, NM_001165963.1:c.447C>A, NM_001202435.3:c.447C>T, NM_001202435.3:c.447C>A, NM_001202435.2:c.447C>T, NM_001202435.2:c.447C>A, NM_001202435.1:c.447C>T, NM_001202435.1:c.447C>A, NM_001165964.3:c.447C>T, NM_001165964.3:c.447C>A, NM_001165964.2:c.447C>T, NM_001165964.2:c.447C>A, NM_001165964.1:c.447C>T, NM_001165964.1:c.447C>A, NM_001353961.2:c.-1979C>T, NM_001353961.2:c.-1979C>A, NM_001353961.1:c.-1979C>T, NM_001353961.1:c.-1979C>A, NM_001353950.2:c.447C>T, NM_001353950.2:c.447C>A, NM_001353950.1:c.447C>T, NM_001353950.1:c.447C>A, NM_001353952.2:c.447C>T, NM_001353952.2:c.447C>A, NM_001353952.1:c.447C>T, NM_001353952.1:c.447C>A, NM_001353954.2:c.447C>T, NM_001353954.2:c.447C>A, NM_001353954.1:c.447C>T, NM_001353954.1:c.447C>A, NR_148667.2:n.833C>T, NR_148667.2:n.833C>A, NR_148667.1:n.852C>T, NR_148667.1:n.852C>A, NM_001353958.2:c.447C>T, NM_001353958.2:c.447C>A, NM_001353958.1:c.447C>T, NM_001353958.1:c.447C>A, NM_001353948.2:c.447C>T, NM_001353948.2:c.447C>A, NM_001353948.1:c.447C>T, NM_001353948.1:c.447C>A, NM_001353960.2:c.447C>T, NM_001353960.2:c.447C>A, NM_001353960.1:c.447C>T, NM_001353960.1:c.447C>A, NM_001353949.2:c.447C>T, NM_001353949.2:c.447C>A, NM_001353949.1:c.447C>T, NM_001353949.1:c.447C>A, NM_001353951.2:c.447C>T, NM_001353951.2:c.447C>A, NM_001353951.1:c.447C>T, NM_001353951.1:c.447C>A, NM_001353955.2:c.447C>T, NM_001353955.2:c.447C>A, NM_001353955.1:c.447C>T, NM_001353955.1:c.447C>A, NM_001353957.2:c.447C>T, NM_001353957.2:c.447C>A, NM_001353957.1:c.447C>T, NM_001353957.1:c.447C>A, XM_047445392.1:c.447C>T, XM_047445392.1:c.447C>A, XM_047445393.1:c.447C>T, XM_047445393.1:c.447C>A, NP_008851.3:p.Asn149Lys, NP_001159435.1:p.Asn149Lys, NP_001189364.1:p.Asn149Lys, NP_001159436.1:p.Asn149Lys, NP_001340879.1:p.Asn149Lys, NP_001340881.1:p.Asn149Lys, NP_001340883.1:p.Asn149Lys, NP_001340887.1:p.Asn149Lys, NP_001340877.1:p.Asn149Lys, NP_001340889.1:p.Asn149Lys, NP_001340878.1:p.Asn149Lys, NP_001340880.1:p.Asn149Lys, NP_001340884.1:p.Asn149Lys, NP_001340886.1:p.Asn149Lys, XP_047301348.1:p.Asn149Lys, XP_047301349.1:p.Asn149Lys

                              15.

                              rs1483617960 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                2:166039596 (GRCh38)
                                2:166896106 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:166039595:C:G
                                Gene:
                                SCN1A (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.166039596C>G, NC_000002.11:g.166896106C>G, NG_011906.1:g.39044G>C, NM_006920.6:c.2383G>C, NM_006920.5:c.2383G>C, NM_006920.4:c.2383G>C, NM_001165963.4:c.2416G>C, NM_001165963.3:c.2416G>C, NM_001165963.2:c.2416G>C, NM_001165963.1:c.2416G>C, NM_001202435.3:c.2416G>C, NM_001202435.2:c.2416G>C, NM_001202435.1:c.2416G>C, NM_001165964.3:c.2332G>C, NM_001165964.2:c.2332G>C, NM_001165964.1:c.2332G>C, NM_001353961.2:c.-27G>C, NM_001353961.1:c.-27G>C, NM_001353950.2:c.2383G>C, NM_001353950.1:c.2383G>C, NM_001353952.2:c.2383G>C, NM_001353952.1:c.2383G>C, NM_001353954.2:c.2380G>C, NM_001353954.1:c.2380G>C, NR_148667.2:n.2769G>C, NR_148667.1:n.2788G>C, NM_001353958.2:c.2332G>C, NM_001353958.1:c.2332G>C, NM_001353948.2:c.2416G>C, NM_001353948.1:c.2416G>C, NM_001353960.2:c.2329G>C, NM_001353960.1:c.2329G>C, NM_001353949.2:c.2383G>C, NM_001353949.1:c.2383G>C, NM_001353951.2:c.2383G>C, NM_001353951.1:c.2383G>C, NM_001353955.2:c.2380G>C, NM_001353955.1:c.2380G>C, NM_001353957.2:c.2332G>C, NM_001353957.1:c.2332G>C, XM_047445392.1:c.2413G>C, XM_047445393.1:c.2416G>C, NP_008851.3:p.Val795Leu, NP_001159435.1:p.Val806Leu, NP_001189364.1:p.Val806Leu, NP_001159436.1:p.Val778Leu, NP_001340879.1:p.Val795Leu, NP_001340881.1:p.Val795Leu, NP_001340883.1:p.Val794Leu, NP_001340887.1:p.Val778Leu, NP_001340877.1:p.Val806Leu, NP_001340889.1:p.Val777Leu, NP_001340878.1:p.Val795Leu, NP_001340880.1:p.Val795Leu, NP_001340884.1:p.Val794Leu, NP_001340886.1:p.Val778Leu, XP_047301348.1:p.Val805Leu, XP_047301349.1:p.Val806Leu

                                16.

                                rs1483132210 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  2:166045311 (GRCh38)
                                  2:166901821 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:166045310:G:T
                                  Gene:
                                  SCN1A (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.166045311G>T, NC_000002.11:g.166901821G>T, NG_011906.1:g.33329C>A, NM_006920.6:c.1394C>A, NM_006920.5:c.1394C>A, NM_006920.4:c.1394C>A, NM_001165963.4:c.1394C>A, NM_001165963.3:c.1394C>A, NM_001165963.2:c.1394C>A, NM_001165963.1:c.1394C>A, NM_001202435.3:c.1394C>A, NM_001202435.2:c.1394C>A, NM_001202435.1:c.1394C>A, NM_001165964.3:c.1394C>A, NM_001165964.2:c.1394C>A, NM_001165964.1:c.1394C>A, NM_001353961.2:c.-1032C>A, NM_001353961.1:c.-1032C>A, NM_001353950.2:c.1394C>A, NM_001353950.1:c.1394C>A, NM_001353952.2:c.1394C>A, NM_001353952.1:c.1394C>A, NM_001353954.2:c.1391C>A, NM_001353954.1:c.1391C>A, NR_148667.2:n.1780C>A, NR_148667.1:n.1799C>A, NM_001353958.2:c.1394C>A, NM_001353958.1:c.1394C>A, NM_001353948.2:c.1394C>A, NM_001353948.1:c.1394C>A, NM_001353960.2:c.1391C>A, NM_001353960.1:c.1391C>A, NM_001353949.2:c.1394C>A, NM_001353949.1:c.1394C>A, NM_001353951.2:c.1394C>A, NM_001353951.1:c.1394C>A, NM_001353955.2:c.1391C>A, NM_001353955.1:c.1391C>A, NM_001353957.2:c.1394C>A, NM_001353957.1:c.1394C>A, XM_047445392.1:c.1391C>A, XM_047445393.1:c.1394C>A, NP_008851.3:p.Thr465Asn, NP_001159435.1:p.Thr465Asn, NP_001189364.1:p.Thr465Asn, NP_001159436.1:p.Thr465Asn, NP_001340879.1:p.Thr465Asn, NP_001340881.1:p.Thr465Asn, NP_001340883.1:p.Thr464Asn, NP_001340887.1:p.Thr465Asn, NP_001340877.1:p.Thr465Asn, NP_001340889.1:p.Thr464Asn, NP_001340878.1:p.Thr465Asn, NP_001340880.1:p.Thr465Asn, NP_001340884.1:p.Thr464Asn, NP_001340886.1:p.Thr465Asn, XP_047301348.1:p.Thr464Asn, XP_047301349.1:p.Thr465Asn

                                  17.

                                  rs1481310706 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    2:166036098 (GRCh38)
                                    2:166892608 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:166036097:A:C
                                    Gene:
                                    SCN1A (Varview), LOC102724058 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.166036098A>C, NC_000002.11:g.166892608A>C, NG_011906.1:g.42542T>G, NM_006920.6:c.3346T>G, NM_006920.5:c.3346T>G, NM_006920.4:c.3346T>G, NM_001165963.4:c.3379T>G, NM_001165963.3:c.3379T>G, NM_001165963.2:c.3379T>G, NM_001165963.1:c.3379T>G, NM_001202435.3:c.3379T>G, NM_001202435.2:c.3379T>G, NM_001202435.1:c.3379T>G, NM_001165964.3:c.3295T>G, NM_001165964.2:c.3295T>G, NM_001165964.1:c.3295T>G, NM_001353961.2:c.937T>G, NM_001353961.1:c.937T>G, NM_001353950.2:c.3346T>G, NM_001353950.1:c.3346T>G, NM_001353952.2:c.3346T>G, NM_001353952.1:c.3346T>G, NM_001353954.2:c.3343T>G, NM_001353954.1:c.3343T>G, NR_148667.2:n.3732T>G, NR_148667.1:n.3751T>G, NM_001353958.2:c.3295T>G, NM_001353958.1:c.3295T>G, NM_001353948.2:c.3379T>G, NM_001353948.1:c.3379T>G, NM_001353960.2:c.3292T>G, NM_001353960.1:c.3292T>G, NM_001353949.2:c.3346T>G, NM_001353949.1:c.3346T>G, NM_001353951.2:c.3346T>G, NM_001353951.1:c.3346T>G, NM_001353955.2:c.3343T>G, NM_001353955.1:c.3343T>G, NM_001353957.2:c.3295T>G, NM_001353957.1:c.3295T>G, XM_047445392.1:c.3376T>G, XM_047445393.1:c.3379T>G, NR_110598.1:n.438A>C, NP_008851.3:p.Leu1116Val, NP_001159435.1:p.Leu1127Val, NP_001189364.1:p.Leu1127Val, NP_001159436.1:p.Leu1099Val, NP_001340890.1:p.Leu313Val, NP_001340879.1:p.Leu1116Val, NP_001340881.1:p.Leu1116Val, NP_001340883.1:p.Leu1115Val, NP_001340887.1:p.Leu1099Val, NP_001340877.1:p.Leu1127Val, NP_001340889.1:p.Leu1098Val, NP_001340878.1:p.Leu1116Val, NP_001340880.1:p.Leu1116Val, NP_001340884.1:p.Leu1115Val, NP_001340886.1:p.Leu1099Val, XP_047301348.1:p.Leu1126Val, XP_047301349.1:p.Leu1127Val

                                    18.

                                    rs1481127614 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:165991503 (GRCh38)
                                      2:166848013 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:165991502:A:G
                                      Gene:
                                      SCN1A (Varview), LOC102724058 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.165991503A>G, NC_000002.11:g.166848013A>G, NG_011906.1:g.87137T>C, NM_006920.6:c.5739T>C, NM_006920.5:c.5739T>C, NM_006920.4:c.5739T>C, NM_001165963.4:c.5772T>C, NM_001165963.3:c.5772T>C, NM_001165963.2:c.5772T>C, NM_001165963.1:c.5772T>C, NM_001202435.3:c.5772T>C, NM_001202435.2:c.5772T>C, NM_001202435.1:c.5772T>C, NM_001165964.3:c.5688T>C, NM_001165964.2:c.5688T>C, NM_001165964.1:c.5688T>C, NM_001353961.2:c.3330T>C, NM_001353961.1:c.3330T>C, NM_001353950.2:c.5739T>C, NM_001353950.1:c.5739T>C, NM_001353952.2:c.5739T>C, NM_001353952.1:c.5739T>C, NM_001353954.2:c.5736T>C, NM_001353954.1:c.5736T>C, NR_148667.2:n.6189T>C, NR_148667.1:n.6208T>C, NM_001353958.2:c.5688T>C, NM_001353958.1:c.5688T>C, NM_001353948.2:c.5772T>C, NM_001353948.1:c.5772T>C, NM_001353960.2:c.5685T>C, NM_001353960.1:c.5685T>C, NM_001353949.2:c.5739T>C, NM_001353949.1:c.5739T>C, NM_001353951.2:c.5739T>C, NM_001353951.1:c.5739T>C, NM_001353955.2:c.5736T>C, NM_001353955.1:c.5736T>C, NM_001353957.2:c.5688T>C, NM_001353957.1:c.5688T>C, XM_047445392.1:c.5769T>C

                                      19.

                                      rs1480668529 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->T [Show Flanks]
                                        Chromosome:
                                        2:165991357 (GRCh38)
                                        2:166847868 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:165991357:TTTTTT:TTTTTTT
                                        Gene:
                                        SCN1A (Varview), LOC102724058 (Varview)
                                        Functional Consequence:
                                        frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        TTTTTTT=0.000071/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.165991363dup, NC_000002.11:g.166847873dup, NG_011906.1:g.87282dup, NM_006920.6:c.5884dup, NM_006920.5:c.5884dup, NM_006920.4:c.5884dup, NM_001165963.4:c.5917dup, NM_001165963.3:c.5917dup, NM_001165963.2:c.5917dup, NM_001165963.1:c.5917dup, NM_001202435.3:c.5917dup, NM_001202435.2:c.5917dup, NM_001202435.1:c.5917dup, NM_001165964.3:c.5833dup, NM_001165964.2:c.5833dup, NM_001165964.1:c.5833dup, NM_001353961.2:c.3475dup, NM_001353961.1:c.3475dup, NM_001353950.2:c.5884dup, NM_001353950.1:c.5884dup, NM_001353952.2:c.5884dup, NM_001353952.1:c.5884dup, NM_001353954.2:c.5881dup, NM_001353954.1:c.5881dup, NR_148667.2:n.6334dup, NR_148667.1:n.6353dup, NM_001353958.2:c.5833dup, NM_001353958.1:c.5833dup, NM_001353948.2:c.5917dup, NM_001353948.1:c.5917dup, NM_001353960.2:c.5830dup, NM_001353960.1:c.5830dup, NM_001353949.2:c.5884dup, NM_001353949.1:c.5884dup, NM_001353951.2:c.5884dup, NM_001353951.1:c.5884dup, NM_001353955.2:c.5881dup, NM_001353955.1:c.5881dup, NM_001353957.2:c.5833dup, NM_001353957.1:c.5833dup, XM_047445392.1:c.5914dup, NP_008851.3:p.Thr1962fs, NP_001159435.1:p.Thr1973fs, NP_001189364.1:p.Thr1973fs, NP_001159436.1:p.Thr1945fs, NP_001340890.1:p.Thr1159fs, NP_001340879.1:p.Thr1962fs, NP_001340881.1:p.Thr1962fs, NP_001340883.1:p.Thr1961fs, NP_001340887.1:p.Thr1945fs, NP_001340877.1:p.Thr1973fs, NP_001340889.1:p.Thr1944fs, NP_001340878.1:p.Thr1962fs, NP_001340880.1:p.Thr1962fs, NP_001340884.1:p.Thr1961fs, NP_001340886.1:p.Thr1945fs, XP_047301348.1:p.Thr1972fs

                                        20.

                                        rs1479913332 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:166073566 (GRCh38)
                                          2:166930076 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:166073565:C:T
                                          Gene:
                                          SCN1A (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.166073566C>T, NC_000002.11:g.166930076C>T, NG_011906.1:g.5074G>A, NM_006920.6:c.56G>A, NM_006920.5:c.56G>A, NM_006920.4:c.56G>A, NM_001165963.4:c.56G>A, NM_001165963.3:c.56G>A, NM_001165963.2:c.56G>A, NM_001165963.1:c.56G>A, NM_001202435.3:c.56G>A, NM_001202435.2:c.56G>A, NM_001202435.1:c.56G>A, NM_001165964.3:c.56G>A, NM_001165964.2:c.56G>A, NM_001165964.1:c.56G>A, NM_001353961.2:c.-2370G>A, NM_001353961.1:c.-2370G>A, NM_001353950.2:c.56G>A, NM_001353950.1:c.56G>A, NM_001353952.2:c.56G>A, NM_001353952.1:c.56G>A, NM_001353954.2:c.56G>A, NM_001353954.1:c.56G>A, NR_148667.2:n.442G>A, NR_148667.1:n.461G>A, NM_001353958.2:c.56G>A, NM_001353958.1:c.56G>A, NM_001353948.2:c.56G>A, NM_001353948.1:c.56G>A, NM_001353960.2:c.56G>A, NM_001353960.1:c.56G>A, NM_001353949.2:c.56G>A, NM_001353949.1:c.56G>A, NM_001353951.2:c.56G>A, NM_001353951.1:c.56G>A, NM_001353955.2:c.56G>A, NM_001353955.1:c.56G>A, NM_001353957.2:c.56G>A, NM_001353957.1:c.56G>A, XM_047445392.1:c.56G>A, XM_047445393.1:c.56G>A, NP_008851.3:p.Arg19Lys, NP_001159435.1:p.Arg19Lys, NP_001189364.1:p.Arg19Lys, NP_001159436.1:p.Arg19Lys, NP_001340879.1:p.Arg19Lys, NP_001340881.1:p.Arg19Lys, NP_001340883.1:p.Arg19Lys, NP_001340887.1:p.Arg19Lys, NP_001340877.1:p.Arg19Lys, NP_001340889.1:p.Arg19Lys, NP_001340878.1:p.Arg19Lys, NP_001340880.1:p.Arg19Lys, NP_001340884.1:p.Arg19Lys, NP_001340886.1:p.Arg19Lys, XP_047301348.1:p.Arg19Lys, XP_047301349.1:p.Arg19Lys

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