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Items: 1 to 20 of 3039

1.

rs1490728783 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:18838483 (GRCh38)
    16:18849805 (GRCh37)
    Canonical SPDI:
    NC_000016.10:18838482:A:G
    Gene:
    SMG1 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000016.10:g.18838483A>G, NC_000016.9:g.18849805A>G, XM_005255183.5:c.7074T>C, XM_005255183.4:c.7074T>C, XM_005255183.3:c.7074T>C, XM_005255183.2:c.7074T>C, XM_005255183.1:c.7074T>C, XM_005255184.5:c.6996T>C, XM_005255184.4:c.6996T>C, XM_005255184.3:c.6996T>C, XM_005255184.2:c.6996T>C, XM_005255184.1:c.6996T>C, XM_005255182.4:c.7152T>C, XM_005255182.3:c.7152T>C, XM_005255182.2:c.7152T>C, XM_005255182.1:c.7152T>C, XM_011545769.4:c.7152T>C, XM_011545769.3:c.7152T>C, XM_011545769.2:c.7152T>C, XM_011545769.1:c.7152T>C, XM_017023066.3:c.7074T>C, XM_017023066.2:c.7074T>C, XM_017023066.1:c.7074T>C, XM_024450199.2:c.6918T>C, XM_024450199.1:c.6918T>C, XM_017023067.2:c.5262T>C, XM_017023067.1:c.5262T>C, XM_011545770.2:c.5262T>C, XM_011545770.1:c.5262T>C, XM_047433792.1:c.7074T>C, XM_047433795.1:c.6918T>C

    2.

    rs1490680187 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:18876379 (GRCh38)
      16:18887701 (GRCh37)
      Canonical SPDI:
      NC_000016.10:18876378:G:A
      Gene:
      SMG1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.18876379G>A, NC_000016.9:g.18887701G>A, XM_005255183.5:c.1557C>T, XM_005255183.4:c.1557C>T, XM_005255183.3:c.1557C>T, XM_005255183.2:c.1557C>T, XM_005255183.1:c.1557C>T, NM_015092.5:c.1635C>T, NM_015092.4:c.1635C>T, XM_005255184.5:c.1479C>T, XM_005255184.4:c.1479C>T, XM_005255184.3:c.1479C>T, XM_005255184.2:c.1479C>T, XM_005255184.1:c.1479C>T, XM_005255182.4:c.1635C>T, XM_005255182.3:c.1635C>T, XM_005255182.2:c.1635C>T, XM_005255182.1:c.1635C>T, XM_011545769.4:c.1635C>T, XM_011545769.3:c.1635C>T, XM_011545769.2:c.1635C>T, XM_011545769.1:c.1635C>T, XM_017023066.3:c.1557C>T, XM_017023066.2:c.1557C>T, XM_017023066.1:c.1557C>T, XM_024450199.2:c.1401C>T, XM_024450199.1:c.1401C>T, XM_011545770.2:c.-59C>T, XM_011545770.1:c.-59C>T, XM_047433792.1:c.1557C>T, XM_047433793.1:c.1635C>T, XM_047433796.1:c.1479C>T, XM_047433794.1:c.1557C>T, XM_047433795.1:c.1401C>T

      3.

      rs1490613154 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:18849314 (GRCh38)
        16:18860636 (GRCh37)
        Canonical SPDI:
        NC_000016.10:18849313:A:G
        Gene:
        SMG1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000028/1 (ALFA)
        G=0.000008/2 (GnomAD_exomes)
        G=0.000015/4 (TOPMED)
        G=0.000029/4 (GnomAD)
        HGVS:
        NC_000016.10:g.18849314A>G, NC_000016.9:g.18860636A>G, XM_005255183.5:c.5448T>C, XM_005255183.4:c.5448T>C, XM_005255183.3:c.5448T>C, XM_005255183.2:c.5448T>C, XM_005255183.1:c.5448T>C, NM_015092.5:c.5526T>C, NM_015092.4:c.5526T>C, XM_005255184.5:c.5370T>C, XM_005255184.4:c.5370T>C, XM_005255184.3:c.5370T>C, XM_005255184.2:c.5370T>C, XM_005255184.1:c.5370T>C, XM_005255182.4:c.5526T>C, XM_005255182.3:c.5526T>C, XM_005255182.2:c.5526T>C, XM_005255182.1:c.5526T>C, XM_011545769.4:c.5526T>C, XM_011545769.3:c.5526T>C, XM_011545769.2:c.5526T>C, XM_011545769.1:c.5526T>C, XM_017023066.3:c.5448T>C, XM_017023066.2:c.5448T>C, XM_017023066.1:c.5448T>C, XM_024450199.2:c.5292T>C, XM_024450199.1:c.5292T>C, XM_017023067.2:c.3636T>C, XM_017023067.1:c.3636T>C, XM_011545770.2:c.3636T>C, XM_011545770.1:c.3636T>C, NM_014006.2:c.3636T>C, XM_047433792.1:c.5448T>C, XM_047433793.1:c.5526T>C, XM_047433796.1:c.5370T>C, XM_047433794.1:c.5448T>C, XM_047433795.1:c.5292T>C, NM_014006.1:c.3636T>C

        4.

        rs1490583141 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          16:18845534 (GRCh38)
          16:18856856 (GRCh37)
          Canonical SPDI:
          NC_000016.10:18845533:T:C
          Gene:
          SMG1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000016.10:g.18845534T>C, NC_000016.9:g.18856856T>C, XM_005255183.5:c.6036A>G, XM_005255183.4:c.6036A>G, XM_005255183.3:c.6036A>G, XM_005255183.2:c.6036A>G, XM_005255183.1:c.6036A>G, NM_015092.5:c.6114A>G, NM_015092.4:c.6114A>G, XM_005255184.5:c.5958A>G, XM_005255184.4:c.5958A>G, XM_005255184.3:c.5958A>G, XM_005255184.2:c.5958A>G, XM_005255184.1:c.5958A>G, XM_005255182.4:c.6114A>G, XM_005255182.3:c.6114A>G, XM_005255182.2:c.6114A>G, XM_005255182.1:c.6114A>G, XM_011545769.4:c.6114A>G, XM_011545769.3:c.6114A>G, XM_011545769.2:c.6114A>G, XM_011545769.1:c.6114A>G, XM_017023066.3:c.6036A>G, XM_017023066.2:c.6036A>G, XM_017023066.1:c.6036A>G, XM_024450199.2:c.5880A>G, XM_024450199.1:c.5880A>G, XM_017023067.2:c.4224A>G, XM_017023067.1:c.4224A>G, XM_011545770.2:c.4224A>G, XM_011545770.1:c.4224A>G, NM_014006.2:c.4224A>G, XM_047433792.1:c.6036A>G, XM_047433793.1:c.6114A>G, XM_047433796.1:c.5958A>G, XM_047433794.1:c.6036A>G, XM_047433795.1:c.5880A>G, NM_014006.1:c.4224A>G

          5.

          rs1490475962 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            16:18819572 (GRCh38)
            16:18830894 (GRCh37)
            Canonical SPDI:
            NC_000016.10:18819571:A:G
            Gene:
            SMG1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            HGVS:
            NC_000016.10:g.18819572A>G, NC_000016.9:g.18830894A>G, XM_005255183.5:c.9830T>C, XM_005255183.4:c.9830T>C, XM_005255183.3:c.9830T>C, XM_005255183.2:c.9830T>C, XM_005255183.1:c.9830T>C, NM_015092.5:c.9824T>C, NM_015092.4:c.9824T>C, XM_005255184.5:c.9752T>C, XM_005255184.4:c.9752T>C, XM_005255184.3:c.9752T>C, XM_005255184.2:c.9752T>C, XM_005255184.1:c.9752T>C, XM_005255182.4:c.9908T>C, XM_005255182.3:c.9908T>C, XM_005255182.2:c.9908T>C, XM_005255182.1:c.9908T>C, XM_011545769.4:c.9908T>C, XM_011545769.3:c.9908T>C, XM_011545769.2:c.9908T>C, XM_011545769.1:c.9908T>C, XM_017023066.3:c.9830T>C, XM_017023066.2:c.9830T>C, XM_017023066.1:c.9830T>C, XM_024450199.2:c.9674T>C, XM_024450199.1:c.9674T>C, XM_017023067.2:c.8018T>C, XM_017023067.1:c.8018T>C, XM_011545770.2:c.8018T>C, XM_011545770.1:c.8018T>C, NM_014006.2:c.7934T>C, XM_047433792.1:c.9830T>C, XM_047433793.1:c.9824T>C, XM_047433796.1:c.9668T>C, XM_047433794.1:c.9746T>C, XM_047433795.1:c.9674T>C, NM_014006.1:c.7934T>C, XP_005255240.1:p.Leu3277Pro, NP_055907.3:p.Leu3275Pro, XP_005255241.1:p.Leu3251Pro, XP_005255239.1:p.Leu3303Pro, XP_011544071.1:p.Leu3303Pro, XP_016878555.1:p.Leu3277Pro, XP_024305967.1:p.Leu3225Pro, XP_016878556.1:p.Leu2673Pro, XP_011544072.1:p.Leu2673Pro, XP_047289748.1:p.Leu3277Pro, XP_047289749.1:p.Leu3275Pro, XP_047289752.1:p.Leu3223Pro, XP_047289750.1:p.Leu3249Pro, XP_047289751.1:p.Leu3225Pro

            6.

            rs1490316682 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              16:18885566 (GRCh38)
              16:18896888 (GRCh37)
              Canonical SPDI:
              NC_000016.10:18885565:G:C
              Gene:
              SMG1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000016.10:g.18885566G>C, NC_000016.9:g.18896888G>C, XM_005255183.5:c.845C>G, XM_005255183.4:c.845C>G, XM_005255183.3:c.845C>G, XM_005255183.2:c.845C>G, XM_005255183.1:c.845C>G, NM_015092.5:c.923C>G, NM_015092.4:c.923C>G, XM_005255184.5:c.767C>G, XM_005255184.4:c.767C>G, XM_005255184.3:c.767C>G, XM_005255184.2:c.767C>G, XM_005255184.1:c.767C>G, XM_005255182.4:c.923C>G, XM_005255182.3:c.923C>G, XM_005255182.2:c.923C>G, XM_005255182.1:c.923C>G, XM_011545769.4:c.923C>G, XM_011545769.3:c.923C>G, XM_011545769.2:c.923C>G, XM_011545769.1:c.923C>G, XM_017023066.3:c.845C>G, XM_017023066.2:c.845C>G, XM_017023066.1:c.845C>G, XM_024450199.2:c.689C>G, XM_024450199.1:c.689C>G, XM_047433792.1:c.845C>G, XM_047433793.1:c.923C>G, XM_047433796.1:c.767C>G, XM_047433794.1:c.845C>G, XM_047433795.1:c.689C>G, XP_005255240.1:p.Pro282Arg, NP_055907.3:p.Pro308Arg, XP_005255241.1:p.Pro256Arg, XP_005255239.1:p.Pro308Arg, XP_011544071.1:p.Pro308Arg, XP_016878555.1:p.Pro282Arg, XP_024305967.1:p.Pro230Arg, XP_047289748.1:p.Pro282Arg, XP_047289749.1:p.Pro308Arg, XP_047289752.1:p.Pro256Arg, XP_047289750.1:p.Pro282Arg, XP_047289751.1:p.Pro230Arg

              7.

              rs1490190912 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:18879602 (GRCh38)
                16:18890924 (GRCh37)
                Canonical SPDI:
                NC_000016.10:18879601:T:C
                Gene:
                SMG1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000083/2 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.18879602T>C, NC_000016.9:g.18890924T>C, XM_005255183.5:c.1333A>G, XM_005255183.4:c.1333A>G, XM_005255183.3:c.1333A>G, XM_005255183.2:c.1333A>G, XM_005255183.1:c.1333A>G, NM_015092.5:c.1411A>G, NM_015092.4:c.1411A>G, XM_005255184.5:c.1255A>G, XM_005255184.4:c.1255A>G, XM_005255184.3:c.1255A>G, XM_005255184.2:c.1255A>G, XM_005255184.1:c.1255A>G, XM_005255182.4:c.1411A>G, XM_005255182.3:c.1411A>G, XM_005255182.2:c.1411A>G, XM_005255182.1:c.1411A>G, XM_011545769.4:c.1411A>G, XM_011545769.3:c.1411A>G, XM_011545769.2:c.1411A>G, XM_011545769.1:c.1411A>G, XM_017023066.3:c.1333A>G, XM_017023066.2:c.1333A>G, XM_017023066.1:c.1333A>G, XM_024450199.2:c.1177A>G, XM_024450199.1:c.1177A>G, XM_047433792.1:c.1333A>G, XM_047433793.1:c.1411A>G, XM_047433796.1:c.1255A>G, XM_047433794.1:c.1333A>G, XM_047433795.1:c.1177A>G, XP_005255240.1:p.Met445Val, NP_055907.3:p.Met471Val, XP_005255241.1:p.Met419Val, XP_005255239.1:p.Met471Val, XP_011544071.1:p.Met471Val, XP_016878555.1:p.Met445Val, XP_024305967.1:p.Met393Val, XP_047289748.1:p.Met445Val, XP_047289749.1:p.Met471Val, XP_047289752.1:p.Met419Val, XP_047289750.1:p.Met445Val, XP_047289751.1:p.Met393Val

                8.

                rs1490128866 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  16:18830097 (GRCh38)
                  16:18841419 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:18830096:G:C
                  Gene:
                  SMG1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000016.10:g.18830097G>C, NC_000016.9:g.18841419G>C, XM_005255183.5:c.8968C>G, XM_005255183.4:c.8968C>G, XM_005255183.3:c.8968C>G, XM_005255183.2:c.8968C>G, XM_005255183.1:c.8968C>G, NM_015092.5:c.8962C>G, NM_015092.4:c.8962C>G, XM_005255184.5:c.8890C>G, XM_005255184.4:c.8890C>G, XM_005255184.3:c.8890C>G, XM_005255184.2:c.8890C>G, XM_005255184.1:c.8890C>G, XM_005255182.4:c.9046C>G, XM_005255182.3:c.9046C>G, XM_005255182.2:c.9046C>G, XM_005255182.1:c.9046C>G, XM_011545769.4:c.9046C>G, XM_011545769.3:c.9046C>G, XM_011545769.2:c.9046C>G, XM_011545769.1:c.9046C>G, XM_017023066.3:c.8968C>G, XM_017023066.2:c.8968C>G, XM_017023066.1:c.8968C>G, XM_024450199.2:c.8812C>G, XM_024450199.1:c.8812C>G, XM_017023067.2:c.7156C>G, XM_017023067.1:c.7156C>G, XM_011545770.2:c.7156C>G, XM_011545770.1:c.7156C>G, NM_014006.2:c.7072C>G, XM_047433792.1:c.8968C>G, XM_047433793.1:c.8962C>G, XM_047433796.1:c.8806C>G, XM_047433794.1:c.8884C>G, XM_047433795.1:c.8812C>G, NM_014006.1:c.7072C>G, XP_005255240.1:p.Pro2990Ala, NP_055907.3:p.Pro2988Ala, XP_005255241.1:p.Pro2964Ala, XP_005255239.1:p.Pro3016Ala, XP_011544071.1:p.Pro3016Ala, XP_016878555.1:p.Pro2990Ala, XP_024305967.1:p.Pro2938Ala, XP_016878556.1:p.Pro2386Ala, XP_011544072.1:p.Pro2386Ala, XP_047289748.1:p.Pro2990Ala, XP_047289749.1:p.Pro2988Ala, XP_047289752.1:p.Pro2936Ala, XP_047289750.1:p.Pro2962Ala, XP_047289751.1:p.Pro2938Ala

                  9.

                  rs1489871120 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    16:18925990 (GRCh38)
                    16:18937312 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:18925989:C:G,NC_000016.10:18925989:C:T
                    Gene:
                    SMG1 (Varview), SMG1-DT (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000016.10:g.18925990C>G, NC_000016.10:g.18925990C>T, NC_000016.9:g.18937312C>G, NC_000016.9:g.18937312C>T, XM_005255183.5:c.-85G>C, XM_005255183.5:c.-85G>A, XM_005255183.4:c.-85G>C, XM_005255183.4:c.-85G>A, XM_005255183.3:c.-85G>C, XM_005255183.3:c.-85G>A, XM_005255183.2:c.-85G>C, XM_005255183.2:c.-85G>A, XM_005255183.1:c.-85G>C, XM_005255183.1:c.-85G>A, NM_015092.5:c.52G>C, NM_015092.5:c.52G>A, NM_015092.4:c.52G>C, NM_015092.4:c.52G>A, XM_005255184.5:c.52G>C, XM_005255184.5:c.52G>A, XM_005255184.4:c.52G>C, XM_005255184.4:c.52G>A, XM_005255184.3:c.52G>C, XM_005255184.3:c.52G>A, XM_005255184.2:c.52G>C, XM_005255184.2:c.52G>A, XM_005255184.1:c.52G>C, XM_005255184.1:c.52G>A, XM_005255182.4:c.52G>C, XM_005255182.4:c.52G>A, XM_005255182.3:c.52G>C, XM_005255182.3:c.52G>A, XM_005255182.2:c.52G>C, XM_005255182.2:c.52G>A, XM_005255182.1:c.52G>C, XM_005255182.1:c.52G>A, XM_011545769.4:c.52G>C, XM_011545769.4:c.52G>A, XM_011545769.3:c.52G>C, XM_011545769.3:c.52G>A, XM_011545769.2:c.52G>C, XM_011545769.2:c.52G>A, XM_011545769.1:c.52G>C, XM_011545769.1:c.52G>A, XM_047433793.1:c.52G>C, XM_047433793.1:c.52G>A, XM_047433796.1:c.52G>C, XM_047433796.1:c.52G>A, NP_055907.3:p.Gly18Arg, NP_055907.3:p.Gly18Ser, XP_005255241.1:p.Gly18Arg, XP_005255241.1:p.Gly18Ser, XP_005255239.1:p.Gly18Arg, XP_005255239.1:p.Gly18Ser, XP_011544071.1:p.Gly18Arg, XP_011544071.1:p.Gly18Ser, XP_047289749.1:p.Gly18Arg, XP_047289749.1:p.Gly18Ser, XP_047289752.1:p.Gly18Arg, XP_047289752.1:p.Gly18Ser

                    10.

                    rs1489313959 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:18892228 (GRCh38)
                      16:18903550 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:18892227:T:C
                      Gene:
                      SMG1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.18892228T>C, NC_000016.9:g.18903550T>C, XM_005255183.5:c.461A>G, XM_005255183.4:c.461A>G, XM_005255183.3:c.461A>G, XM_005255183.2:c.461A>G, XM_005255183.1:c.461A>G, NM_015092.5:c.539A>G, NM_015092.4:c.539A>G, XM_005255184.5:c.383A>G, XM_005255184.4:c.383A>G, XM_005255184.3:c.383A>G, XM_005255184.2:c.383A>G, XM_005255184.1:c.383A>G, XM_005255182.4:c.539A>G, XM_005255182.3:c.539A>G, XM_005255182.2:c.539A>G, XM_005255182.1:c.539A>G, XM_011545769.4:c.539A>G, XM_011545769.3:c.539A>G, XM_011545769.2:c.539A>G, XM_011545769.1:c.539A>G, XM_017023066.3:c.461A>G, XM_017023066.2:c.461A>G, XM_017023066.1:c.461A>G, XM_024450199.2:c.305A>G, XM_024450199.1:c.305A>G, XM_047433792.1:c.461A>G, XM_047433793.1:c.539A>G, XM_047433796.1:c.383A>G, XM_047433794.1:c.461A>G, XM_047433795.1:c.305A>G, XP_005255240.1:p.Glu154Gly, NP_055907.3:p.Glu180Gly, XP_005255241.1:p.Glu128Gly, XP_005255239.1:p.Glu180Gly, XP_011544071.1:p.Glu180Gly, XP_016878555.1:p.Glu154Gly, XP_024305967.1:p.Glu102Gly, XP_047289748.1:p.Glu154Gly, XP_047289749.1:p.Glu180Gly, XP_047289752.1:p.Glu128Gly, XP_047289750.1:p.Glu154Gly, XP_047289751.1:p.Glu102Gly

                      11.

                      rs1488835848 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        16:18829596 (GRCh38)
                        16:18840918 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:18829595:G:T
                        Gene:
                        SMG1 (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_000016.10:g.18829596G>T, NC_000016.9:g.18840918G>T, XM_005255183.5:c.9299C>A, XM_005255183.4:c.9299C>A, XM_005255183.3:c.9299C>A, XM_005255183.2:c.9299C>A, XM_005255183.1:c.9299C>A, NM_015092.5:c.9293C>A, NM_015092.4:c.9293C>A, XM_005255184.5:c.9221C>A, XM_005255184.4:c.9221C>A, XM_005255184.3:c.9221C>A, XM_005255184.2:c.9221C>A, XM_005255184.1:c.9221C>A, XM_005255182.4:c.9377C>A, XM_005255182.3:c.9377C>A, XM_005255182.2:c.9377C>A, XM_005255182.1:c.9377C>A, XM_011545769.4:c.9377C>A, XM_011545769.3:c.9377C>A, XM_011545769.2:c.9377C>A, XM_011545769.1:c.9377C>A, XM_017023066.3:c.9299C>A, XM_017023066.2:c.9299C>A, XM_017023066.1:c.9299C>A, XM_024450199.2:c.9143C>A, XM_024450199.1:c.9143C>A, XM_017023067.2:c.7487C>A, XM_017023067.1:c.7487C>A, XM_011545770.2:c.7487C>A, XM_011545770.1:c.7487C>A, NM_014006.2:c.7403C>A, XM_047433792.1:c.9299C>A, XM_047433793.1:c.9293C>A, XM_047433796.1:c.9137C>A, XM_047433794.1:c.9215C>A, XM_047433795.1:c.9143C>A, NM_014006.1:c.7403C>A, XP_005255240.1:p.Pro3100His, NP_055907.3:p.Pro3098His, XP_005255241.1:p.Pro3074His, XP_005255239.1:p.Pro3126His, XP_011544071.1:p.Pro3126His, XP_016878555.1:p.Pro3100His, XP_024305967.1:p.Pro3048His, XP_016878556.1:p.Pro2496His, XP_011544072.1:p.Pro2496His, XP_047289748.1:p.Pro3100His, XP_047289749.1:p.Pro3098His, XP_047289752.1:p.Pro3046His, XP_047289750.1:p.Pro3072His, XP_047289751.1:p.Pro3048His

                        12.

                        rs1488693901 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          16:18868578 (GRCh38)
                          16:18879900 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:18868577:T:A
                          Gene:
                          SMG1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000016.10:g.18868578T>A, NC_000016.9:g.18879900T>A, XM_005255183.5:c.2897A>T, XM_005255183.4:c.2897A>T, XM_005255183.3:c.2897A>T, XM_005255183.2:c.2897A>T, XM_005255183.1:c.2897A>T, NM_015092.5:c.2975A>T, NM_015092.4:c.2975A>T, XM_005255184.5:c.2819A>T, XM_005255184.4:c.2819A>T, XM_005255184.3:c.2819A>T, XM_005255184.2:c.2819A>T, XM_005255184.1:c.2819A>T, XM_005255182.4:c.2975A>T, XM_005255182.3:c.2975A>T, XM_005255182.2:c.2975A>T, XM_005255182.1:c.2975A>T, XM_011545769.4:c.2975A>T, XM_011545769.3:c.2975A>T, XM_011545769.2:c.2975A>T, XM_011545769.1:c.2975A>T, XM_017023066.3:c.2897A>T, XM_017023066.2:c.2897A>T, XM_017023066.1:c.2897A>T, XM_024450199.2:c.2741A>T, XM_024450199.1:c.2741A>T, XM_017023067.2:c.1085A>T, XM_017023067.1:c.1085A>T, XM_011545770.2:c.1085A>T, XM_011545770.1:c.1085A>T, NM_014006.2:c.1085A>T, XM_047433792.1:c.2897A>T, XM_047433793.1:c.2975A>T, XM_047433796.1:c.2819A>T, XM_047433794.1:c.2897A>T, XM_047433795.1:c.2741A>T, NM_014006.1:c.1085A>T, XP_005255240.1:p.Lys966Ile, NP_055907.3:p.Lys992Ile, XP_005255241.1:p.Lys940Ile, XP_005255239.1:p.Lys992Ile, XP_011544071.1:p.Lys992Ile, XP_016878555.1:p.Lys966Ile, XP_024305967.1:p.Lys914Ile, XP_016878556.1:p.Lys362Ile, XP_011544072.1:p.Lys362Ile, XP_047289748.1:p.Lys966Ile, XP_047289749.1:p.Lys992Ile, XP_047289752.1:p.Lys940Ile, XP_047289750.1:p.Lys966Ile, XP_047289751.1:p.Lys914Ile

                          13.

                          rs1488605746 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            16:18858205 (GRCh38)
                            16:18869527 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:18858204:G:A,NC_000016.10:18858204:G:C
                            Gene:
                            SMG1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000016.10:g.18858205G>A, NC_000016.10:g.18858205G>C, NC_000016.9:g.18869527G>A, NC_000016.9:g.18869527G>C, XM_005255183.5:c.4121C>T, XM_005255183.5:c.4121C>G, XM_005255183.4:c.4121C>T, XM_005255183.4:c.4121C>G, XM_005255183.3:c.4121C>T, XM_005255183.3:c.4121C>G, XM_005255183.2:c.4121C>T, XM_005255183.2:c.4121C>G, XM_005255183.1:c.4121C>T, XM_005255183.1:c.4121C>G, NM_015092.5:c.4199C>T, NM_015092.5:c.4199C>G, NM_015092.4:c.4199C>T, NM_015092.4:c.4199C>G, XM_005255184.5:c.4043C>T, XM_005255184.5:c.4043C>G, XM_005255184.4:c.4043C>T, XM_005255184.4:c.4043C>G, XM_005255184.3:c.4043C>T, XM_005255184.3:c.4043C>G, XM_005255184.2:c.4043C>T, XM_005255184.2:c.4043C>G, XM_005255184.1:c.4043C>T, XM_005255184.1:c.4043C>G, XM_005255182.4:c.4199C>T, XM_005255182.4:c.4199C>G, XM_005255182.3:c.4199C>T, XM_005255182.3:c.4199C>G, XM_005255182.2:c.4199C>T, XM_005255182.2:c.4199C>G, XM_005255182.1:c.4199C>T, XM_005255182.1:c.4199C>G, XM_011545769.4:c.4199C>T, XM_011545769.4:c.4199C>G, XM_011545769.3:c.4199C>T, XM_011545769.3:c.4199C>G, XM_011545769.2:c.4199C>T, XM_011545769.2:c.4199C>G, XM_011545769.1:c.4199C>T, XM_011545769.1:c.4199C>G, XM_017023066.3:c.4121C>T, XM_017023066.3:c.4121C>G, XM_017023066.2:c.4121C>T, XM_017023066.2:c.4121C>G, XM_017023066.1:c.4121C>T, XM_017023066.1:c.4121C>G, XM_024450199.2:c.3965C>T, XM_024450199.2:c.3965C>G, XM_024450199.1:c.3965C>T, XM_024450199.1:c.3965C>G, XM_017023067.2:c.2309C>T, XM_017023067.2:c.2309C>G, XM_017023067.1:c.2309C>T, XM_017023067.1:c.2309C>G, XM_011545770.2:c.2309C>T, XM_011545770.2:c.2309C>G, XM_011545770.1:c.2309C>T, XM_011545770.1:c.2309C>G, NM_014006.2:c.2309C>T, NM_014006.2:c.2309C>G, XM_047433792.1:c.4121C>T, XM_047433792.1:c.4121C>G, XM_047433793.1:c.4199C>T, XM_047433793.1:c.4199C>G, XM_047433796.1:c.4043C>T, XM_047433796.1:c.4043C>G, XM_047433794.1:c.4121C>T, XM_047433794.1:c.4121C>G, XM_047433795.1:c.3965C>T, XM_047433795.1:c.3965C>G, NM_014006.1:c.2309C>T, NM_014006.1:c.2309C>G, XP_005255240.1:p.Thr1374Ile, XP_005255240.1:p.Thr1374Ser, NP_055907.3:p.Thr1400Ile, NP_055907.3:p.Thr1400Ser, XP_005255241.1:p.Thr1348Ile, XP_005255241.1:p.Thr1348Ser, XP_005255239.1:p.Thr1400Ile, XP_005255239.1:p.Thr1400Ser, XP_011544071.1:p.Thr1400Ile, XP_011544071.1:p.Thr1400Ser, XP_016878555.1:p.Thr1374Ile, XP_016878555.1:p.Thr1374Ser, XP_024305967.1:p.Thr1322Ile, XP_024305967.1:p.Thr1322Ser, XP_016878556.1:p.Thr770Ile, XP_016878556.1:p.Thr770Ser, XP_011544072.1:p.Thr770Ile, XP_011544072.1:p.Thr770Ser, XP_047289748.1:p.Thr1374Ile, XP_047289748.1:p.Thr1374Ser, XP_047289749.1:p.Thr1400Ile, XP_047289749.1:p.Thr1400Ser, XP_047289752.1:p.Thr1348Ile, XP_047289752.1:p.Thr1348Ser, XP_047289750.1:p.Thr1374Ile, XP_047289750.1:p.Thr1374Ser, XP_047289751.1:p.Thr1322Ile, XP_047289751.1:p.Thr1322Ser

                            14.

                            rs1488239907 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              16:18830032 (GRCh38)
                              16:18841354 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:18830031:A:T
                              Gene:
                              SMG1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              HGVS:
                              NC_000016.10:g.18830032A>T, NC_000016.9:g.18841354A>T, XM_005255183.5:c.9033T>A, XM_005255183.4:c.9033T>A, XM_005255183.3:c.9033T>A, XM_005255183.2:c.9033T>A, XM_005255183.1:c.9033T>A, NM_015092.5:c.9027T>A, NM_015092.4:c.9027T>A, XM_005255184.5:c.8955T>A, XM_005255184.4:c.8955T>A, XM_005255184.3:c.8955T>A, XM_005255184.2:c.8955T>A, XM_005255184.1:c.8955T>A, XM_005255182.4:c.9111T>A, XM_005255182.3:c.9111T>A, XM_005255182.2:c.9111T>A, XM_005255182.1:c.9111T>A, XM_011545769.4:c.9111T>A, XM_011545769.3:c.9111T>A, XM_011545769.2:c.9111T>A, XM_011545769.1:c.9111T>A, XM_017023066.3:c.9033T>A, XM_017023066.2:c.9033T>A, XM_017023066.1:c.9033T>A, XM_024450199.2:c.8877T>A, XM_024450199.1:c.8877T>A, XM_017023067.2:c.7221T>A, XM_017023067.1:c.7221T>A, XM_011545770.2:c.7221T>A, XM_011545770.1:c.7221T>A, NM_014006.2:c.7137T>A, XM_047433792.1:c.9033T>A, XM_047433793.1:c.9027T>A, XM_047433796.1:c.8871T>A, XM_047433794.1:c.8949T>A, XM_047433795.1:c.8877T>A, NM_014006.1:c.7137T>A, XP_005255240.1:p.Asp3011Glu, NP_055907.3:p.Asp3009Glu, XP_005255241.1:p.Asp2985Glu, XP_005255239.1:p.Asp3037Glu, XP_011544071.1:p.Asp3037Glu, XP_016878555.1:p.Asp3011Glu, XP_024305967.1:p.Asp2959Glu, XP_016878556.1:p.Asp2407Glu, XP_011544072.1:p.Asp2407Glu, XP_047289748.1:p.Asp3011Glu, XP_047289749.1:p.Asp3009Glu, XP_047289752.1:p.Asp2957Glu, XP_047289750.1:p.Asp2983Glu, XP_047289751.1:p.Asp2959Glu

                              15.

                              rs1487772286 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                16:18871384 (GRCh38)
                                16:18882706 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:18871383:C:T
                                Gene:
                                SMG1 (Varview), LOC124903799 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000016.10:g.18871384C>T, NC_000016.9:g.18882706C>T, XM_005255183.5:c.2204G>A, XM_005255183.4:c.2204G>A, XM_005255183.3:c.2204G>A, XM_005255183.2:c.2204G>A, XM_005255183.1:c.2204G>A, NM_015092.5:c.2282G>A, NM_015092.4:c.2282G>A, XM_005255184.5:c.2126G>A, XM_005255184.4:c.2126G>A, XM_005255184.3:c.2126G>A, XM_005255184.2:c.2126G>A, XM_005255184.1:c.2126G>A, XM_005255182.4:c.2282G>A, XM_005255182.3:c.2282G>A, XM_005255182.2:c.2282G>A, XM_005255182.1:c.2282G>A, XM_011545769.4:c.2282G>A, XM_011545769.3:c.2282G>A, XM_011545769.2:c.2282G>A, XM_011545769.1:c.2282G>A, XM_017023066.3:c.2204G>A, XM_017023066.2:c.2204G>A, XM_017023066.1:c.2204G>A, XM_024450199.2:c.2048G>A, XM_024450199.1:c.2048G>A, XM_017023067.2:c.392G>A, XM_017023067.1:c.392G>A, XM_011545770.2:c.392G>A, XM_011545770.1:c.392G>A, NM_014006.2:c.392G>A, XM_047433792.1:c.2204G>A, XM_047433793.1:c.2282G>A, XM_047433796.1:c.2126G>A, XM_047433794.1:c.2204G>A, XM_047433795.1:c.2048G>A, NM_014006.1:c.392G>A, XP_005255240.1:p.Cys735Tyr, NP_055907.3:p.Cys761Tyr, XP_005255241.1:p.Cys709Tyr, XP_005255239.1:p.Cys761Tyr, XP_011544071.1:p.Cys761Tyr, XP_016878555.1:p.Cys735Tyr, XP_024305967.1:p.Cys683Tyr, XP_016878556.1:p.Cys131Tyr, XP_011544072.1:p.Cys131Tyr, XP_047289748.1:p.Cys735Tyr, XP_047289749.1:p.Cys761Tyr, XP_047289752.1:p.Cys709Tyr, XP_047289750.1:p.Cys735Tyr, XP_047289751.1:p.Cys683Tyr

                                16.

                                rs1487624173 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:18859591 (GRCh38)
                                  16:18870913 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:18859590:C:T
                                  Gene:
                                  SMG1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000016.10:g.18859591C>T, NC_000016.9:g.18870913C>T, XM_005255183.5:c.3840G>A, XM_005255183.4:c.3840G>A, XM_005255183.3:c.3840G>A, XM_005255183.2:c.3840G>A, XM_005255183.1:c.3840G>A, NM_015092.5:c.3918G>A, NM_015092.4:c.3918G>A, XM_005255184.5:c.3762G>A, XM_005255184.4:c.3762G>A, XM_005255184.3:c.3762G>A, XM_005255184.2:c.3762G>A, XM_005255184.1:c.3762G>A, XM_005255182.4:c.3918G>A, XM_005255182.3:c.3918G>A, XM_005255182.2:c.3918G>A, XM_005255182.1:c.3918G>A, XM_011545769.4:c.3918G>A, XM_011545769.3:c.3918G>A, XM_011545769.2:c.3918G>A, XM_011545769.1:c.3918G>A, XM_017023066.3:c.3840G>A, XM_017023066.2:c.3840G>A, XM_017023066.1:c.3840G>A, XM_024450199.2:c.3684G>A, XM_024450199.1:c.3684G>A, XM_017023067.2:c.2028G>A, XM_017023067.1:c.2028G>A, XM_011545770.2:c.2028G>A, XM_011545770.1:c.2028G>A, NM_014006.2:c.2028G>A, XM_047433792.1:c.3840G>A, XM_047433793.1:c.3918G>A, XM_047433796.1:c.3762G>A, XM_047433794.1:c.3840G>A, XM_047433795.1:c.3684G>A, NM_014006.1:c.2028G>A

                                  17.

                                  rs1487298165 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    16:18834253 (GRCh38)
                                    16:18845575 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:18834252:T:C
                                    Gene:
                                    SMG1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.18834253T>C, NC_000016.9:g.18845575T>C, XM_005255183.5:c.8522A>G, XM_005255183.4:c.8522A>G, XM_005255183.3:c.8522A>G, XM_005255183.2:c.8522A>G, XM_005255183.1:c.8522A>G, NM_015092.5:c.8516A>G, NM_015092.4:c.8516A>G, XM_005255184.5:c.8444A>G, XM_005255184.4:c.8444A>G, XM_005255184.3:c.8444A>G, XM_005255184.2:c.8444A>G, XM_005255184.1:c.8444A>G, XM_005255182.4:c.8600A>G, XM_005255182.3:c.8600A>G, XM_005255182.2:c.8600A>G, XM_005255182.1:c.8600A>G, XM_011545769.4:c.8600A>G, XM_011545769.3:c.8600A>G, XM_011545769.2:c.8600A>G, XM_011545769.1:c.8600A>G, XM_017023066.3:c.8522A>G, XM_017023066.2:c.8522A>G, XM_017023066.1:c.8522A>G, XM_024450199.2:c.8366A>G, XM_024450199.1:c.8366A>G, XM_017023067.2:c.6710A>G, XM_017023067.1:c.6710A>G, XM_011545770.2:c.6710A>G, XM_011545770.1:c.6710A>G, NM_014006.2:c.6626A>G, XM_047433792.1:c.8522A>G, XM_047433793.1:c.8516A>G, XM_047433796.1:c.8360A>G, XM_047433794.1:c.8438A>G, XM_047433795.1:c.8366A>G, NM_014006.1:c.6626A>G, XP_005255240.1:p.Glu2841Gly, NP_055907.3:p.Glu2839Gly, XP_005255241.1:p.Glu2815Gly, XP_005255239.1:p.Glu2867Gly, XP_011544071.1:p.Glu2867Gly, XP_016878555.1:p.Glu2841Gly, XP_024305967.1:p.Glu2789Gly, XP_016878556.1:p.Glu2237Gly, XP_011544072.1:p.Glu2237Gly, XP_047289748.1:p.Glu2841Gly, XP_047289749.1:p.Glu2839Gly, XP_047289752.1:p.Glu2787Gly, XP_047289750.1:p.Glu2813Gly, XP_047289751.1:p.Glu2789Gly

                                    18.

                                    rs1486719166 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      16:18868288 (GRCh38)
                                      16:18879610 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:18868287:A:C
                                      Gene:
                                      SMG1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000016.10:g.18868288A>C, NC_000016.9:g.18879610A>C, XM_005255183.5:c.3019T>G, XM_005255183.4:c.3019T>G, XM_005255183.3:c.3019T>G, XM_005255183.2:c.3019T>G, XM_005255183.1:c.3019T>G, NM_015092.5:c.3097T>G, NM_015092.4:c.3097T>G, XM_005255184.5:c.2941T>G, XM_005255184.4:c.2941T>G, XM_005255184.3:c.2941T>G, XM_005255184.2:c.2941T>G, XM_005255184.1:c.2941T>G, XM_005255182.4:c.3097T>G, XM_005255182.3:c.3097T>G, XM_005255182.2:c.3097T>G, XM_005255182.1:c.3097T>G, XM_011545769.4:c.3097T>G, XM_011545769.3:c.3097T>G, XM_011545769.2:c.3097T>G, XM_011545769.1:c.3097T>G, XM_017023066.3:c.3019T>G, XM_017023066.2:c.3019T>G, XM_017023066.1:c.3019T>G, XM_024450199.2:c.2863T>G, XM_024450199.1:c.2863T>G, XM_017023067.2:c.1207T>G, XM_017023067.1:c.1207T>G, XM_011545770.2:c.1207T>G, XM_011545770.1:c.1207T>G, NM_014006.2:c.1207T>G, XM_047433792.1:c.3019T>G, XM_047433793.1:c.3097T>G, XM_047433796.1:c.2941T>G, XM_047433794.1:c.3019T>G, XM_047433795.1:c.2863T>G, NM_014006.1:c.1207T>G, XP_005255240.1:p.Ser1007Ala, NP_055907.3:p.Ser1033Ala, XP_005255241.1:p.Ser981Ala, XP_005255239.1:p.Ser1033Ala, XP_011544071.1:p.Ser1033Ala, XP_016878555.1:p.Ser1007Ala, XP_024305967.1:p.Ser955Ala, XP_016878556.1:p.Ser403Ala, XP_011544072.1:p.Ser403Ala, XP_047289748.1:p.Ser1007Ala, XP_047289749.1:p.Ser1033Ala, XP_047289752.1:p.Ser981Ala, XP_047289750.1:p.Ser1007Ala, XP_047289751.1:p.Ser955Ala

                                      19.

                                      rs1486505227 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        16:18869203 (GRCh38)
                                        16:18880525 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:18869202:G:A
                                        Gene:
                                        SMG1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000016.10:g.18869203G>A, NC_000016.9:g.18880525G>A, XM_005255183.5:c.2656C>T, XM_005255183.4:c.2656C>T, XM_005255183.3:c.2656C>T, XM_005255183.2:c.2656C>T, XM_005255183.1:c.2656C>T, NM_015092.5:c.2734C>T, NM_015092.4:c.2734C>T, XM_005255184.5:c.2578C>T, XM_005255184.4:c.2578C>T, XM_005255184.3:c.2578C>T, XM_005255184.2:c.2578C>T, XM_005255184.1:c.2578C>T, XM_005255182.4:c.2734C>T, XM_005255182.3:c.2734C>T, XM_005255182.2:c.2734C>T, XM_005255182.1:c.2734C>T, XM_011545769.4:c.2734C>T, XM_011545769.3:c.2734C>T, XM_011545769.2:c.2734C>T, XM_011545769.1:c.2734C>T, XM_017023066.3:c.2656C>T, XM_017023066.2:c.2656C>T, XM_017023066.1:c.2656C>T, XM_024450199.2:c.2500C>T, XM_024450199.1:c.2500C>T, XM_017023067.2:c.844C>T, XM_017023067.1:c.844C>T, XM_011545770.2:c.844C>T, XM_011545770.1:c.844C>T, NM_014006.2:c.844C>T, XM_047433792.1:c.2656C>T, XM_047433793.1:c.2734C>T, XM_047433796.1:c.2578C>T, XM_047433794.1:c.2656C>T, XM_047433795.1:c.2500C>T, NM_014006.1:c.844C>T, XP_005255240.1:p.Leu886Phe, NP_055907.3:p.Leu912Phe, XP_005255241.1:p.Leu860Phe, XP_005255239.1:p.Leu912Phe, XP_011544071.1:p.Leu912Phe, XP_016878555.1:p.Leu886Phe, XP_024305967.1:p.Leu834Phe, XP_016878556.1:p.Leu282Phe, XP_011544072.1:p.Leu282Phe, XP_047289748.1:p.Leu886Phe, XP_047289749.1:p.Leu912Phe, XP_047289752.1:p.Leu860Phe, XP_047289750.1:p.Leu886Phe, XP_047289751.1:p.Leu834Phe

                                        20.

                                        rs1486336863 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          16:18859115 (GRCh38)
                                          16:18870437 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:18859114:T:C
                                          Gene:
                                          SMG1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.18859115T>C, NC_000016.9:g.18870437T>C, XM_005255183.5:c.3942A>G, XM_005255183.4:c.3942A>G, XM_005255183.3:c.3942A>G, XM_005255183.2:c.3942A>G, XM_005255183.1:c.3942A>G, NM_015092.5:c.4020A>G, NM_015092.4:c.4020A>G, XM_005255184.5:c.3864A>G, XM_005255184.4:c.3864A>G, XM_005255184.3:c.3864A>G, XM_005255184.2:c.3864A>G, XM_005255184.1:c.3864A>G, XM_005255182.4:c.4020A>G, XM_005255182.3:c.4020A>G, XM_005255182.2:c.4020A>G, XM_005255182.1:c.4020A>G, XM_011545769.4:c.4020A>G, XM_011545769.3:c.4020A>G, XM_011545769.2:c.4020A>G, XM_011545769.1:c.4020A>G, XM_017023066.3:c.3942A>G, XM_017023066.2:c.3942A>G, XM_017023066.1:c.3942A>G, XM_024450199.2:c.3786A>G, XM_024450199.1:c.3786A>G, XM_017023067.2:c.2130A>G, XM_017023067.1:c.2130A>G, XM_011545770.2:c.2130A>G, XM_011545770.1:c.2130A>G, NM_014006.2:c.2130A>G, XM_047433792.1:c.3942A>G, XM_047433793.1:c.4020A>G, XM_047433796.1:c.3864A>G, XM_047433794.1:c.3942A>G, XM_047433795.1:c.3786A>G, NM_014006.1:c.2130A>G

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