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Items: 1 to 20 of 1400

1.

rs1490595176 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:135770007 (GRCh38)
    9:138661853 (GRCh37)
    Canonical SPDI:
    NC_000009.12:135770006:C:T
    Gene:
    KCNT1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000006/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000009.12:g.135770007C>T, NC_000009.11:g.138661853C>T, NG_033070.1:g.72823C>T, NM_020822.3:c.1571C>T, NM_020822.2:c.1571C>T, NM_001272003.2:c.1436C>T, NM_001272003.1:c.1436C>T, XM_011518881.4:c.1061C>T, XM_011518881.3:c.1061C>T, XM_011518881.2:c.1061C>T, XM_011518881.1:c.1061C>T, XM_011518878.4:c.1715C>T, XM_011518878.3:c.1715C>T, XM_011518878.2:c.1715C>T, XM_011518878.1:c.1715C>T, XM_011518879.4:c.1706C>T, XM_011518879.3:c.1706C>T, XM_011518879.2:c.1706C>T, XM_011518879.1:c.1706C>T, XM_024447617.2:c.1061C>T, XM_024447617.1:c.1061C>T, XM_017014931.2:c.1505C>T, XM_017014931.1:c.1505C>T, XM_011518880.2:c.1472C>T, XM_011518880.1:c.1472C>T, XM_017014932.2:c.1328C>T, XM_017014932.1:c.1328C>T, XM_024447618.2:c.1061C>T, XM_024447618.1:c.1061C>T, XM_017014933.2:c.1061C>T, XM_017014933.1:c.1061C>T, NP_065873.2:p.Pro524Leu, NP_001258932.1:p.Pro479Leu, XP_011517183.1:p.Pro354Leu, XP_011517180.1:p.Pro572Leu, XP_011517181.1:p.Pro569Leu, XP_024303385.1:p.Pro354Leu, XP_016870420.1:p.Pro502Leu, XP_011517182.1:p.Pro491Leu, XP_016870421.1:p.Pro443Leu, XP_024303386.1:p.Pro354Leu, XP_016870422.1:p.Pro354Leu

    2.

    rs1490280605 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:135791813 (GRCh38)
      9:138683659 (GRCh37)
      Canonical SPDI:
      NC_000009.12:135791812:C:T
      Gene:
      KCNT1 (Varview), LOC107987140 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.135791813C>T, NC_000009.11:g.138683659C>T, NG_033070.1:g.94629C>T, NM_020822.3:c.3519C>T, NM_020822.2:c.3519C>T, NM_001272003.2:c.3447C>T, NM_001272003.1:c.3447C>T, XM_011518881.4:c.3072C>T, XM_011518881.3:c.3072C>T, XM_011518881.2:c.3072C>T, XM_011518881.1:c.3072C>T, XM_011518878.4:c.3663C>T, XM_011518878.3:c.3663C>T, XM_011518878.2:c.3663C>T, XM_011518878.1:c.3663C>T, XM_011518879.4:c.3654C>T, XM_011518879.3:c.3654C>T, XM_011518879.2:c.3654C>T, XM_011518879.1:c.3654C>T, XM_024447617.2:c.3072C>T, XM_024447617.1:c.3072C>T, XM_017014931.2:c.3516C>T, XM_017014931.1:c.3516C>T, XM_011518880.2:c.3483C>T, XM_011518880.1:c.3483C>T, XM_017014932.2:c.3339C>T, XM_017014932.1:c.3339C>T, XM_024447618.2:c.3072C>T, XM_024447618.1:c.3072C>T, XM_017014933.2:c.3072C>T, XM_017014933.1:c.3072C>T, XR_007061851.1:n.229G>A

      3.

      rs1489453171 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:135785329 (GRCh38)
        9:138677175 (GRCh37)
        Canonical SPDI:
        NC_000009.12:135785328:A:G
        Gene:
        KCNT1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000009.12:g.135785329A>G, NC_000009.11:g.138677175A>G, NG_033070.1:g.88145A>G, NM_020822.3:c.3176A>G, NM_020822.2:c.3176A>G, NM_001272003.2:c.3041A>G, NM_001272003.1:c.3041A>G, XM_011518881.4:c.2666A>G, XM_011518881.3:c.2666A>G, XM_011518881.2:c.2666A>G, XM_011518881.1:c.2666A>G, XM_011518878.4:c.3320A>G, XM_011518878.3:c.3320A>G, XM_011518878.2:c.3320A>G, XM_011518878.1:c.3320A>G, XM_011518879.4:c.3311A>G, XM_011518879.3:c.3311A>G, XM_011518879.2:c.3311A>G, XM_011518879.1:c.3311A>G, XM_024447617.2:c.2666A>G, XM_024447617.1:c.2666A>G, XM_017014931.2:c.3110A>G, XM_017014931.1:c.3110A>G, XM_011518880.2:c.3077A>G, XM_011518880.1:c.3077A>G, XM_017014932.2:c.2933A>G, XM_017014932.1:c.2933A>G, XM_024447618.2:c.2666A>G, XM_024447618.1:c.2666A>G, XM_017014933.2:c.2666A>G, XM_017014933.1:c.2666A>G, NP_065873.2:p.Gln1059Arg, NP_001258932.1:p.Gln1014Arg, XP_011517183.1:p.Gln889Arg, XP_011517180.1:p.Gln1107Arg, XP_011517181.1:p.Gln1104Arg, XP_024303385.1:p.Gln889Arg, XP_016870420.1:p.Gln1037Arg, XP_011517182.1:p.Gln1026Arg, XP_016870421.1:p.Gln978Arg, XP_024303386.1:p.Gln889Arg, XP_016870422.1:p.Gln889Arg

        4.

        rs1489231448 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          9:135770387 (GRCh38)
          9:138662233 (GRCh37)
          Canonical SPDI:
          NC_000009.12:135770386:A:G
          Gene:
          KCNT1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000009.12:g.135770387A>G, NC_000009.11:g.138662233A>G, NG_033070.1:g.73203A>G, NM_020822.3:c.1709A>G, NM_020822.2:c.1709A>G, NM_001272003.2:c.1574A>G, NM_001272003.1:c.1574A>G, XM_011518881.4:c.1199A>G, XM_011518881.3:c.1199A>G, XM_011518881.2:c.1199A>G, XM_011518881.1:c.1199A>G, XM_011518878.4:c.1853A>G, XM_011518878.3:c.1853A>G, XM_011518878.2:c.1853A>G, XM_011518878.1:c.1853A>G, XM_011518879.4:c.1844A>G, XM_011518879.3:c.1844A>G, XM_011518879.2:c.1844A>G, XM_011518879.1:c.1844A>G, XM_024447617.2:c.1199A>G, XM_024447617.1:c.1199A>G, XM_017014931.2:c.1643A>G, XM_017014931.1:c.1643A>G, XM_011518880.2:c.1610A>G, XM_011518880.1:c.1610A>G, XM_017014932.2:c.1466A>G, XM_017014932.1:c.1466A>G, XM_024447618.2:c.1199A>G, XM_024447618.1:c.1199A>G, XM_017014933.2:c.1199A>G, XM_017014933.1:c.1199A>G, NP_065873.2:p.Lys570Arg, NP_001258932.1:p.Lys525Arg, XP_011517183.1:p.Lys400Arg, XP_011517180.1:p.Lys618Arg, XP_011517181.1:p.Lys615Arg, XP_024303385.1:p.Lys400Arg, XP_016870420.1:p.Lys548Arg, XP_011517182.1:p.Lys537Arg, XP_016870421.1:p.Lys489Arg, XP_024303386.1:p.Lys400Arg, XP_016870422.1:p.Lys400Arg

          5.

          rs1489187704 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:135784561 (GRCh38)
            9:138676407 (GRCh37)
            Canonical SPDI:
            NC_000009.12:135784560:C:T
            Gene:
            KCNT1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000009.12:g.135784561C>T, NC_000009.11:g.138676407C>T, NG_033070.1:g.87377C>T, NM_020822.3:c.2970C>T, NM_020822.2:c.2970C>T, NM_001272003.2:c.2835C>T, NM_001272003.1:c.2835C>T, XM_011518881.4:c.2460C>T, XM_011518881.3:c.2460C>T, XM_011518881.2:c.2460C>T, XM_011518881.1:c.2460C>T, XM_011518878.4:c.3114C>T, XM_011518878.3:c.3114C>T, XM_011518878.2:c.3114C>T, XM_011518878.1:c.3114C>T, XM_011518879.4:c.3105C>T, XM_011518879.3:c.3105C>T, XM_011518879.2:c.3105C>T, XM_011518879.1:c.3105C>T, XM_024447617.2:c.2460C>T, XM_024447617.1:c.2460C>T, XM_017014931.2:c.2904C>T, XM_017014931.1:c.2904C>T, XM_011518880.2:c.2871C>T, XM_011518880.1:c.2871C>T, XM_017014932.2:c.2727C>T, XM_017014932.1:c.2727C>T, XM_024447618.2:c.2460C>T, XM_024447618.1:c.2460C>T, XM_017014933.2:c.2460C>T, XM_017014933.1:c.2460C>T

            6.

            rs1488722147 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:135770441 (GRCh38)
              9:138662287 (GRCh37)
              Canonical SPDI:
              NC_000009.12:135770440:A:G
              Gene:
              KCNT1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.001119/5 (ALFA)
              G=0.000029/4 (GnomAD)
              G=0.001116/5 (Estonian)
              HGVS:
              NC_000009.12:g.135770441A>G, NC_000009.11:g.138662287A>G, NG_033070.1:g.73257A>G, NM_020822.3:c.1763A>G, NM_020822.2:c.1763A>G, NM_001272003.2:c.1628A>G, NM_001272003.1:c.1628A>G, XM_011518881.4:c.1253A>G, XM_011518881.3:c.1253A>G, XM_011518881.2:c.1253A>G, XM_011518881.1:c.1253A>G, XM_011518878.4:c.1907A>G, XM_011518878.3:c.1907A>G, XM_011518878.2:c.1907A>G, XM_011518878.1:c.1907A>G, XM_011518879.4:c.1898A>G, XM_011518879.3:c.1898A>G, XM_011518879.2:c.1898A>G, XM_011518879.1:c.1898A>G, XM_024447617.2:c.1253A>G, XM_024447617.1:c.1253A>G, XM_017014931.2:c.1697A>G, XM_017014931.1:c.1697A>G, XM_011518880.2:c.1664A>G, XM_011518880.1:c.1664A>G, XM_017014932.2:c.1520A>G, XM_017014932.1:c.1520A>G, XM_024447618.2:c.1253A>G, XM_024447618.1:c.1253A>G, XM_017014933.2:c.1253A>G, XM_017014933.1:c.1253A>G, NP_065873.2:p.His588Arg, NP_001258932.1:p.His543Arg, XP_011517183.1:p.His418Arg, XP_011517180.1:p.His636Arg, XP_011517181.1:p.His633Arg, XP_024303385.1:p.His418Arg, XP_016870420.1:p.His566Arg, XP_011517182.1:p.His555Arg, XP_016870421.1:p.His507Arg, XP_024303386.1:p.His418Arg, XP_016870422.1:p.His418Arg

              7.

              rs1488258845 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:135757307 (GRCh38)
                9:138649153 (GRCh37)
                Canonical SPDI:
                NC_000009.12:135757306:C:T
                Gene:
                KCNT1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000111/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.135757307C>T, NC_000009.11:g.138649153C>T, NG_033070.1:g.60123C>T, NM_020822.3:c.685C>T, NM_020822.2:c.685C>T, NM_001272003.2:c.541C>T, NM_001272003.1:c.541C>T, XM_011518881.4:c.166C>T, XM_011518881.3:c.166C>T, XM_011518881.2:c.166C>T, XM_011518881.1:c.166C>T, XM_011518878.4:c.820C>T, XM_011518878.3:c.820C>T, XM_011518878.2:c.820C>T, XM_011518878.1:c.820C>T, XM_011518879.4:c.820C>T, XM_011518879.3:c.820C>T, XM_011518879.2:c.820C>T, XM_011518879.1:c.820C>T, XM_024447617.2:c.166C>T, XM_024447617.1:c.166C>T, XM_017014931.2:c.610C>T, XM_017014931.1:c.610C>T, XM_011518880.2:c.586C>T, XM_011518880.1:c.586C>T, XM_017014932.2:c.433C>T, XM_017014932.1:c.433C>T, XM_024447618.2:c.166C>T, XM_024447618.1:c.166C>T, XM_017014933.2:c.166C>T, XM_017014933.1:c.166C>T, NP_065873.2:p.Pro229Ser, NP_001258932.1:p.Pro181Ser, XP_011517183.1:p.Pro56Ser, XP_011517180.1:p.Pro274Ser, XP_011517181.1:p.Pro274Ser, XP_024303385.1:p.Pro56Ser, XP_016870420.1:p.Pro204Ser, XP_011517182.1:p.Pro196Ser, XP_016870421.1:p.Pro145Ser, XP_024303386.1:p.Pro56Ser, XP_016870422.1:p.Pro56Ser

                8.

                rs1487574287 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:135775329 (GRCh38)
                  9:138667175 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:135775328:C:T
                  Gene:
                  KCNT1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000009.12:g.135775329C>T, NC_000009.11:g.138667175C>T, NG_033070.1:g.78145C>T, NM_020822.3:c.2263C>T, NM_020822.2:c.2263C>T, NM_001272003.2:c.2128C>T, NM_001272003.1:c.2128C>T, XM_011518881.4:c.1753C>T, XM_011518881.3:c.1753C>T, XM_011518881.2:c.1753C>T, XM_011518881.1:c.1753C>T, XM_011518878.4:c.2407C>T, XM_011518878.3:c.2407C>T, XM_011518878.2:c.2407C>T, XM_011518878.1:c.2407C>T, XM_011518879.4:c.2398C>T, XM_011518879.3:c.2398C>T, XM_011518879.2:c.2398C>T, XM_011518879.1:c.2398C>T, XM_024447617.2:c.1753C>T, XM_024447617.1:c.1753C>T, XM_017014931.2:c.2197C>T, XM_017014931.1:c.2197C>T, XM_011518880.2:c.2164C>T, XM_011518880.1:c.2164C>T, XM_017014932.2:c.2020C>T, XM_017014932.1:c.2020C>T, XM_024447618.2:c.1753C>T, XM_024447618.1:c.1753C>T, XM_017014933.2:c.1753C>T, XM_017014933.1:c.1753C>T, NP_065873.2:p.Pro755Ser, NP_001258932.1:p.Pro710Ser, XP_011517183.1:p.Pro585Ser, XP_011517180.1:p.Pro803Ser, XP_011517181.1:p.Pro800Ser, XP_024303385.1:p.Pro585Ser, XP_016870420.1:p.Pro733Ser, XP_011517182.1:p.Pro722Ser, XP_016870421.1:p.Pro674Ser, XP_024303386.1:p.Pro585Ser, XP_016870422.1:p.Pro585Ser

                  9.

                  rs1487490891 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:135786353 (GRCh38)
                    9:138678199 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:135786352:T:C
                    Gene:
                    KCNT1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000009.12:g.135786353T>C, NC_000009.11:g.138678199T>C, NG_033070.1:g.89169T>C, NM_020822.3:c.3334T>C, NM_020822.2:c.3334T>C, NM_001272003.2:c.3199T>C, NM_001272003.1:c.3199T>C, XM_011518881.4:c.2824T>C, XM_011518881.3:c.2824T>C, XM_011518881.2:c.2824T>C, XM_011518881.1:c.2824T>C, XM_011518878.4:c.3478T>C, XM_011518878.3:c.3478T>C, XM_011518878.2:c.3478T>C, XM_011518878.1:c.3478T>C, XM_011518879.4:c.3469T>C, XM_011518879.3:c.3469T>C, XM_011518879.2:c.3469T>C, XM_011518879.1:c.3469T>C, XM_024447617.2:c.2824T>C, XM_024447617.1:c.2824T>C, XM_017014931.2:c.3268T>C, XM_017014931.1:c.3268T>C, XM_011518880.2:c.3235T>C, XM_011518880.1:c.3235T>C, XM_017014932.2:c.3091T>C, XM_017014932.1:c.3091T>C, XM_024447618.2:c.2824T>C, XM_024447618.1:c.2824T>C, XM_017014933.2:c.2824T>C, XM_017014933.1:c.2824T>C, NP_065873.2:p.Trp1112Arg, NP_001258932.1:p.Trp1067Arg, XP_011517183.1:p.Trp942Arg, XP_011517180.1:p.Trp1160Arg, XP_011517181.1:p.Trp1157Arg, XP_024303385.1:p.Trp942Arg, XP_016870420.1:p.Trp1090Arg, XP_011517182.1:p.Trp1079Arg, XP_016870421.1:p.Trp1031Arg, XP_024303386.1:p.Trp942Arg, XP_016870422.1:p.Trp942Arg

                    10.

                    rs1486195544 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G,T [Show Flanks]
                      Chromosome:
                      9:135779408 (GRCh38)
                      9:138671254 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:135779407:A:C,NC_000009.12:135779407:A:G,NC_000009.12:135779407:A:T
                      Gene:
                      KCNT1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      C=0.00092/15 (TOMMO)
                      HGVS:
                      NC_000009.12:g.135779408A>C, NC_000009.12:g.135779408A>G, NC_000009.12:g.135779408A>T, NC_000009.11:g.138671254A>C, NC_000009.11:g.138671254A>G, NC_000009.11:g.138671254A>T, NG_033070.1:g.82224A>C, NG_033070.1:g.82224A>G, NG_033070.1:g.82224A>T, NM_020822.3:c.2779A>C, NM_020822.3:c.2779A>G, NM_020822.3:c.2779A>T, NM_020822.2:c.2779A>C, NM_020822.2:c.2779A>G, NM_020822.2:c.2779A>T, NM_001272003.2:c.2644A>C, NM_001272003.2:c.2644A>G, NM_001272003.2:c.2644A>T, NM_001272003.1:c.2644A>C, NM_001272003.1:c.2644A>G, NM_001272003.1:c.2644A>T, XM_011518881.4:c.2269A>C, XM_011518881.4:c.2269A>G, XM_011518881.4:c.2269A>T, XM_011518881.3:c.2269A>C, XM_011518881.3:c.2269A>G, XM_011518881.3:c.2269A>T, XM_011518881.2:c.2269A>C, XM_011518881.2:c.2269A>G, XM_011518881.2:c.2269A>T, XM_011518881.1:c.2269A>C, XM_011518881.1:c.2269A>G, XM_011518881.1:c.2269A>T, XM_011518878.4:c.2923A>C, XM_011518878.4:c.2923A>G, XM_011518878.4:c.2923A>T, XM_011518878.3:c.2923A>C, XM_011518878.3:c.2923A>G, XM_011518878.3:c.2923A>T, XM_011518878.2:c.2923A>C, XM_011518878.2:c.2923A>G, XM_011518878.2:c.2923A>T, XM_011518878.1:c.2923A>C, XM_011518878.1:c.2923A>G, XM_011518878.1:c.2923A>T, XM_011518879.4:c.2914A>C, XM_011518879.4:c.2914A>G, XM_011518879.4:c.2914A>T, XM_011518879.3:c.2914A>C, XM_011518879.3:c.2914A>G, XM_011518879.3:c.2914A>T, XM_011518879.2:c.2914A>C, XM_011518879.2:c.2914A>G, XM_011518879.2:c.2914A>T, XM_011518879.1:c.2914A>C, XM_011518879.1:c.2914A>G, XM_011518879.1:c.2914A>T, XM_024447617.2:c.2269A>C, XM_024447617.2:c.2269A>G, XM_024447617.2:c.2269A>T, XM_024447617.1:c.2269A>C, XM_024447617.1:c.2269A>G, XM_024447617.1:c.2269A>T, XM_017014931.2:c.2713A>C, XM_017014931.2:c.2713A>G, XM_017014931.2:c.2713A>T, XM_017014931.1:c.2713A>C, XM_017014931.1:c.2713A>G, XM_017014931.1:c.2713A>T, XM_011518880.2:c.2680A>C, XM_011518880.2:c.2680A>G, XM_011518880.2:c.2680A>T, XM_011518880.1:c.2680A>C, XM_011518880.1:c.2680A>G, XM_011518880.1:c.2680A>T, XM_017014932.2:c.2536A>C, XM_017014932.2:c.2536A>G, XM_017014932.2:c.2536A>T, XM_017014932.1:c.2536A>C, XM_017014932.1:c.2536A>G, XM_017014932.1:c.2536A>T, XM_024447618.2:c.2269A>C, XM_024447618.2:c.2269A>G, XM_024447618.2:c.2269A>T, XM_024447618.1:c.2269A>C, XM_024447618.1:c.2269A>G, XM_024447618.1:c.2269A>T, XM_017014933.2:c.2269A>C, XM_017014933.2:c.2269A>G, XM_017014933.2:c.2269A>T, XM_017014933.1:c.2269A>C, XM_017014933.1:c.2269A>G, XM_017014933.1:c.2269A>T, NP_065873.2:p.Met927Leu, NP_065873.2:p.Met927Val, NP_065873.2:p.Met927Leu, NP_001258932.1:p.Met882Leu, NP_001258932.1:p.Met882Val, NP_001258932.1:p.Met882Leu, XP_011517183.1:p.Met757Leu, XP_011517183.1:p.Met757Val, XP_011517183.1:p.Met757Leu, XP_011517180.1:p.Met975Leu, XP_011517180.1:p.Met975Val, XP_011517180.1:p.Met975Leu, XP_011517181.1:p.Met972Leu, XP_011517181.1:p.Met972Val, XP_011517181.1:p.Met972Leu, XP_024303385.1:p.Met757Leu, XP_024303385.1:p.Met757Val, XP_024303385.1:p.Met757Leu, XP_016870420.1:p.Met905Leu, XP_016870420.1:p.Met905Val, XP_016870420.1:p.Met905Leu, XP_011517182.1:p.Met894Leu, XP_011517182.1:p.Met894Val, XP_011517182.1:p.Met894Leu, XP_016870421.1:p.Met846Leu, XP_016870421.1:p.Met846Val, XP_016870421.1:p.Met846Leu, XP_024303386.1:p.Met757Leu, XP_024303386.1:p.Met757Val, XP_024303386.1:p.Met757Leu, XP_016870422.1:p.Met757Leu, XP_016870422.1:p.Met757Val, XP_016870422.1:p.Met757Leu

                      11.

                      rs1481356544 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:135758416 (GRCh38)
                        9:138650262 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:135758415:T:C
                        Gene:
                        KCNT1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000043/1 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000004/1 (TOPMED)
                        C=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1481122214 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:135765131 (GRCh38)
                          9:138656977 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:135765130:G:A
                          Gene:
                          KCNT1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Clinical significance:
                          pathogenic
                          HGVS:
                          NC_000009.12:g.135765131G>A, NC_000009.11:g.138656977G>A, NG_033070.1:g.67947G>A, NM_020822.3:c.1136G>A, NM_020822.2:c.1136G>A, NM_001272003.2:c.1001G>A, NM_001272003.1:c.1001G>A, XM_011518881.4:c.626G>A, XM_011518881.3:c.626G>A, XM_011518881.2:c.626G>A, XM_011518881.1:c.626G>A, XM_011518878.4:c.1280G>A, XM_011518878.3:c.1280G>A, XM_011518878.2:c.1280G>A, XM_011518878.1:c.1280G>A, XM_011518879.4:c.1271G>A, XM_011518879.3:c.1271G>A, XM_011518879.2:c.1271G>A, XM_011518879.1:c.1271G>A, XM_024447617.2:c.626G>A, XM_024447617.1:c.626G>A, XM_017014931.2:c.1070G>A, XM_017014931.1:c.1070G>A, XM_011518880.2:c.1037G>A, XM_011518880.1:c.1037G>A, XM_017014932.2:c.893G>A, XM_017014932.1:c.893G>A, XM_024447618.2:c.626G>A, XM_024447618.1:c.626G>A, XM_017014933.2:c.626G>A, XM_017014933.1:c.626G>A, NP_065873.2:p.Ser379Asn, NP_001258932.1:p.Ser334Asn, XP_011517183.1:p.Ser209Asn, XP_011517180.1:p.Ser427Asn, XP_011517181.1:p.Ser424Asn, XP_024303385.1:p.Ser209Asn, XP_016870420.1:p.Ser357Asn, XP_011517182.1:p.Ser346Asn, XP_016870421.1:p.Ser298Asn, XP_024303386.1:p.Ser209Asn, XP_016870422.1:p.Ser209Asn

                          13.

                          rs1479813399 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            9:135750167 (GRCh38)
                            9:138642013 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:135750166:C:A
                            Gene:
                            KCNT1 (Varview)
                            Functional Consequence:
                            missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            NC_000009.12:g.135750167C>A, NC_000009.11:g.138642013C>A, NG_033070.1:g.52983C>A, NM_020822.3:c.324C>A, NM_020822.2:c.324C>A, NM_001272003.2:c.180C>A, NM_001272003.1:c.180C>A, XM_011518878.4:c.459C>A, XM_011518878.3:c.459C>A, XM_011518878.2:c.459C>A, XM_011518878.1:c.459C>A, XM_011518879.4:c.459C>A, XM_011518879.3:c.459C>A, XM_011518879.2:c.459C>A, XM_011518879.1:c.459C>A, XM_024447617.2:c.-196C>A, XM_024447617.1:c.-196C>A, XM_017014931.2:c.349C>A, XM_017014931.1:c.349C>A, XM_011518880.2:c.225C>A, XM_011518880.1:c.225C>A, XM_017014932.2:c.72C>A, XM_017014932.1:c.72C>A, XM_024447618.2:c.-196C>A, XM_024447618.1:c.-196C>A, XM_017014933.2:c.-96C>A, XM_017014933.1:c.-96C>A, NP_065873.2:p.Asn108Lys, NP_001258932.1:p.Asn60Lys, XP_011517180.1:p.Asn153Lys, XP_011517181.1:p.Asn153Lys, XP_016870420.1:p.Pro117Thr, XP_011517182.1:p.Asn75Lys, XP_016870421.1:p.Asn24Lys

                            14.

                            rs1479237463 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              9:135770305 (GRCh38)
                              9:138662151 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:135770304:C:A,NC_000009.12:135770304:C:T
                              Gene:
                              KCNT1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,stop_gained,missense_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000009.12:g.135770305C>A, NC_000009.12:g.135770305C>T, NC_000009.11:g.138662151C>A, NC_000009.11:g.138662151C>T, NG_033070.1:g.73121C>A, NG_033070.1:g.73121C>T, NM_020822.3:c.1627C>A, NM_020822.3:c.1627C>T, NM_020822.2:c.1627C>A, NM_020822.2:c.1627C>T, NM_001272003.2:c.1492C>A, NM_001272003.2:c.1492C>T, NM_001272003.1:c.1492C>A, NM_001272003.1:c.1492C>T, XM_011518881.4:c.1117C>A, XM_011518881.4:c.1117C>T, XM_011518881.3:c.1117C>A, XM_011518881.3:c.1117C>T, XM_011518881.2:c.1117C>A, XM_011518881.2:c.1117C>T, XM_011518881.1:c.1117C>A, XM_011518881.1:c.1117C>T, XM_011518878.4:c.1771C>A, XM_011518878.4:c.1771C>T, XM_011518878.3:c.1771C>A, XM_011518878.3:c.1771C>T, XM_011518878.2:c.1771C>A, XM_011518878.2:c.1771C>T, XM_011518878.1:c.1771C>A, XM_011518878.1:c.1771C>T, XM_011518879.4:c.1762C>A, XM_011518879.4:c.1762C>T, XM_011518879.3:c.1762C>A, XM_011518879.3:c.1762C>T, XM_011518879.2:c.1762C>A, XM_011518879.2:c.1762C>T, XM_011518879.1:c.1762C>A, XM_011518879.1:c.1762C>T, XM_024447617.2:c.1117C>A, XM_024447617.2:c.1117C>T, XM_024447617.1:c.1117C>A, XM_024447617.1:c.1117C>T, XM_017014931.2:c.1561C>A, XM_017014931.2:c.1561C>T, XM_017014931.1:c.1561C>A, XM_017014931.1:c.1561C>T, XM_011518880.2:c.1528C>A, XM_011518880.2:c.1528C>T, XM_011518880.1:c.1528C>A, XM_011518880.1:c.1528C>T, XM_017014932.2:c.1384C>A, XM_017014932.2:c.1384C>T, XM_017014932.1:c.1384C>A, XM_017014932.1:c.1384C>T, XM_024447618.2:c.1117C>A, XM_024447618.2:c.1117C>T, XM_024447618.1:c.1117C>A, XM_024447618.1:c.1117C>T, XM_017014933.2:c.1117C>A, XM_017014933.2:c.1117C>T, XM_017014933.1:c.1117C>A, XM_017014933.1:c.1117C>T, NP_065873.2:p.Gln543Lys, NP_065873.2:p.Gln543Ter, NP_001258932.1:p.Gln498Lys, NP_001258932.1:p.Gln498Ter, XP_011517183.1:p.Gln373Lys, XP_011517183.1:p.Gln373Ter, XP_011517180.1:p.Gln591Lys, XP_011517180.1:p.Gln591Ter, XP_011517181.1:p.Gln588Lys, XP_011517181.1:p.Gln588Ter, XP_024303385.1:p.Gln373Lys, XP_024303385.1:p.Gln373Ter, XP_016870420.1:p.Gln521Lys, XP_016870420.1:p.Gln521Ter, XP_011517182.1:p.Gln510Lys, XP_011517182.1:p.Gln510Ter, XP_016870421.1:p.Gln462Lys, XP_016870421.1:p.Gln462Ter, XP_024303386.1:p.Gln373Lys, XP_024303386.1:p.Gln373Ter, XP_016870422.1:p.Gln373Lys, XP_016870422.1:p.Gln373Ter

                              15.

                              rs1478985208 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:135784079 (GRCh38)
                                9:138675925 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:135784078:C:T
                                Gene:
                                KCNT1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000009.12:g.135784079C>T, NC_000009.11:g.138675925C>T, NG_033070.1:g.86895C>T, NM_020822.3:c.2897C>T, NM_020822.2:c.2897C>T, NM_001272003.2:c.2762C>T, NM_001272003.1:c.2762C>T, XM_011518881.4:c.2387C>T, XM_011518881.3:c.2387C>T, XM_011518881.2:c.2387C>T, XM_011518881.1:c.2387C>T, XM_011518878.4:c.3041C>T, XM_011518878.3:c.3041C>T, XM_011518878.2:c.3041C>T, XM_011518878.1:c.3041C>T, XM_011518879.4:c.3032C>T, XM_011518879.3:c.3032C>T, XM_011518879.2:c.3032C>T, XM_011518879.1:c.3032C>T, XM_024447617.2:c.2387C>T, XM_024447617.1:c.2387C>T, XM_017014931.2:c.2831C>T, XM_017014931.1:c.2831C>T, XM_011518880.2:c.2798C>T, XM_011518880.1:c.2798C>T, XM_017014932.2:c.2654C>T, XM_017014932.1:c.2654C>T, XM_024447618.2:c.2387C>T, XM_024447618.1:c.2387C>T, XM_017014933.2:c.2387C>T, XM_017014933.1:c.2387C>T, NP_065873.2:p.Ala966Val, NP_001258932.1:p.Ala921Val, XP_011517183.1:p.Ala796Val, XP_011517180.1:p.Ala1014Val, XP_011517181.1:p.Ala1011Val, XP_024303385.1:p.Ala796Val, XP_016870420.1:p.Ala944Val, XP_011517182.1:p.Ala933Val, XP_016870421.1:p.Ala885Val, XP_024303386.1:p.Ala796Val, XP_016870422.1:p.Ala796Val

                                16.

                                rs1477855545 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  9:135758486 (GRCh38)
                                  9:138650332 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:135758485:C:T
                                  Gene:
                                  KCNT1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  HGVS:

                                  17.

                                  rs1477529193 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    9:135759827 (GRCh38)
                                    9:138651673 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:135759826:A:T
                                    Gene:
                                    KCNT1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.135759827A>T, NC_000009.11:g.138651673A>T, NG_033070.1:g.62643A>T, NM_020822.3:c.1003A>T, NM_020822.2:c.1003A>T, NM_001272003.2:c.868A>T, NM_001272003.1:c.868A>T, XM_011518881.4:c.493A>T, XM_011518881.3:c.493A>T, XM_011518881.2:c.493A>T, XM_011518881.1:c.493A>T, XM_011518878.4:c.1147A>T, XM_011518878.3:c.1147A>T, XM_011518878.2:c.1147A>T, XM_011518878.1:c.1147A>T, XM_011518879.4:c.1138A>T, XM_011518879.3:c.1138A>T, XM_011518879.2:c.1138A>T, XM_011518879.1:c.1138A>T, XM_024447617.2:c.493A>T, XM_024447617.1:c.493A>T, XM_017014931.2:c.937A>T, XM_017014931.1:c.937A>T, XM_011518880.2:c.904A>T, XM_011518880.1:c.904A>T, XM_017014932.2:c.760A>T, XM_017014932.1:c.760A>T, XM_024447618.2:c.493A>T, XM_024447618.1:c.493A>T, XM_017014933.2:c.493A>T, XM_017014933.1:c.493A>T, NP_065873.2:p.Ile335Phe, NP_001258932.1:p.Ile290Phe, XP_011517183.1:p.Ile165Phe, XP_011517180.1:p.Ile383Phe, XP_011517181.1:p.Ile380Phe, XP_024303385.1:p.Ile165Phe, XP_016870420.1:p.Ile313Phe, XP_011517182.1:p.Ile302Phe, XP_016870421.1:p.Ile254Phe, XP_024303386.1:p.Ile165Phe, XP_016870422.1:p.Ile165Phe

                                    18.

                                    rs1476079719 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:135777488 (GRCh38)
                                      9:138669334 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:135777487:A:G
                                      Gene:
                                      KCNT1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000047/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.135777488A>G, NC_000009.11:g.138669334A>G, NG_033070.1:g.80304A>G, NM_020822.3:c.2500A>G, NM_020822.2:c.2500A>G, NM_001272003.2:c.2365A>G, NM_001272003.1:c.2365A>G, XM_011518881.4:c.1990A>G, XM_011518881.3:c.1990A>G, XM_011518881.2:c.1990A>G, XM_011518881.1:c.1990A>G, XM_011518878.4:c.2644A>G, XM_011518878.3:c.2644A>G, XM_011518878.2:c.2644A>G, XM_011518878.1:c.2644A>G, XM_011518879.4:c.2635A>G, XM_011518879.3:c.2635A>G, XM_011518879.2:c.2635A>G, XM_011518879.1:c.2635A>G, XM_024447617.2:c.1990A>G, XM_024447617.1:c.1990A>G, XM_017014931.2:c.2434A>G, XM_017014931.1:c.2434A>G, XM_011518880.2:c.2401A>G, XM_011518880.1:c.2401A>G, XM_017014932.2:c.2257A>G, XM_017014932.1:c.2257A>G, XM_024447618.2:c.1990A>G, XM_024447618.1:c.1990A>G, XM_017014933.2:c.1990A>G, XM_017014933.1:c.1990A>G, NP_065873.2:p.Ile834Val, NP_001258932.1:p.Ile789Val, XP_011517183.1:p.Ile664Val, XP_011517180.1:p.Ile882Val, XP_011517181.1:p.Ile879Val, XP_024303385.1:p.Ile664Val, XP_016870420.1:p.Ile812Val, XP_011517182.1:p.Ile801Val, XP_016870421.1:p.Ile753Val, XP_024303386.1:p.Ile664Val, XP_016870422.1:p.Ile664Val

                                      19.

                                      rs1475185094 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:135784536 (GRCh38)
                                        9:138676382 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:135784535:C:T
                                        Gene:
                                        KCNT1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.00008/1 (ALFA)
                                        HGVS:
                                        NC_000009.12:g.135784536C>T, NC_000009.11:g.138676382C>T, NG_033070.1:g.87352C>T, NM_020822.3:c.2945C>T, NM_020822.2:c.2945C>T, NM_001272003.2:c.2810C>T, NM_001272003.1:c.2810C>T, XM_011518881.4:c.2435C>T, XM_011518881.3:c.2435C>T, XM_011518881.2:c.2435C>T, XM_011518881.1:c.2435C>T, XM_011518878.4:c.3089C>T, XM_011518878.3:c.3089C>T, XM_011518878.2:c.3089C>T, XM_011518878.1:c.3089C>T, XM_011518879.4:c.3080C>T, XM_011518879.3:c.3080C>T, XM_011518879.2:c.3080C>T, XM_011518879.1:c.3080C>T, XM_024447617.2:c.2435C>T, XM_024447617.1:c.2435C>T, XM_017014931.2:c.2879C>T, XM_017014931.1:c.2879C>T, XM_011518880.2:c.2846C>T, XM_011518880.1:c.2846C>T, XM_017014932.2:c.2702C>T, XM_017014932.1:c.2702C>T, XM_024447618.2:c.2435C>T, XM_024447618.1:c.2435C>T, XM_017014933.2:c.2435C>T, XM_017014933.1:c.2435C>T, NP_065873.2:p.Ser982Phe, NP_001258932.1:p.Ser937Phe, XP_011517183.1:p.Ser812Phe, XP_011517180.1:p.Ser1030Phe, XP_011517181.1:p.Ser1027Phe, XP_024303385.1:p.Ser812Phe, XP_016870420.1:p.Ser960Phe, XP_011517182.1:p.Ser949Phe, XP_016870421.1:p.Ser901Phe, XP_024303386.1:p.Ser812Phe, XP_016870422.1:p.Ser812Phe

                                        20.

                                        rs1475180895 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          9:135765712 (GRCh38)
                                          9:138657558 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:135765711:T:A
                                          Gene:
                                          KCNT1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.135765712T>A, NC_000009.11:g.138657558T>A, NG_033070.1:g.68528T>A, NM_020822.3:c.1289T>A, NM_020822.2:c.1289T>A, NM_001272003.2:c.1154T>A, NM_001272003.1:c.1154T>A, XM_011518881.4:c.779T>A, XM_011518881.3:c.779T>A, XM_011518881.2:c.779T>A, XM_011518881.1:c.779T>A, XM_011518878.4:c.1433T>A, XM_011518878.3:c.1433T>A, XM_011518878.2:c.1433T>A, XM_011518878.1:c.1433T>A, XM_011518879.4:c.1424T>A, XM_011518879.3:c.1424T>A, XM_011518879.2:c.1424T>A, XM_011518879.1:c.1424T>A, XM_024447617.2:c.779T>A, XM_024447617.1:c.779T>A, XM_017014931.2:c.1223T>A, XM_017014931.1:c.1223T>A, XM_011518880.2:c.1190T>A, XM_011518880.1:c.1190T>A, XM_017014932.2:c.1046T>A, XM_017014932.1:c.1046T>A, XM_024447618.2:c.779T>A, XM_024447618.1:c.779T>A, XM_017014933.2:c.779T>A, XM_017014933.1:c.779T>A, NP_065873.2:p.Ile430Asn, NP_001258932.1:p.Ile385Asn, XP_011517183.1:p.Ile260Asn, XP_011517180.1:p.Ile478Asn, XP_011517181.1:p.Ile475Asn, XP_024303385.1:p.Ile260Asn, XP_016870420.1:p.Ile408Asn, XP_011517182.1:p.Ile397Asn, XP_016870421.1:p.Ile349Asn, XP_024303386.1:p.Ile260Asn, XP_016870422.1:p.Ile260Asn

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