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Items: 1 to 20 of 212

1.

rs1488341595 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    5:82252584 (GRCh38)
    5:81548403 (GRCh37)
    Canonical SPDI:
    NC_000005.10:82252583:C:G
    Gene:
    ATG10 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000005.10:g.82252584C>G, NC_000005.9:g.81548403C>G, XM_005248611.6:c.476C>G, XM_005248611.5:c.476C>G, XM_005248611.4:c.476C>G, XM_005248611.3:c.476C>G, XM_005248611.2:c.476C>G, XM_005248611.1:c.476C>G, XM_005248610.6:c.476C>G, XM_005248610.5:c.476C>G, XM_005248610.4:c.476C>G, XM_005248610.3:c.476C>G, XM_005248610.2:c.476C>G, XM_005248610.1:c.476C>G, NM_031482.5:c.476C>G, NM_031482.4:c.476C>G, XM_005248612.4:c.368C>G, XM_005248612.3:c.368C>G, XM_005248612.2:c.368C>G, XM_005248612.1:c.368C>G, XM_011543661.3:c.266C>G, XM_011543661.2:c.266C>G, XM_011543661.1:c.266C>G, XM_011543660.3:c.350C>G, XM_011543660.2:c.350C>G, XM_011543660.1:c.350C>G, NM_001131028.2:c.476C>G, NM_001131028.1:c.476C>G, XM_017009944.2:c.368C>G, XM_017009944.1:c.368C>G, XM_047417798.1:c.476C>G, XM_047417800.1:c.476C>G, XM_047417803.1:c.368C>G, XM_047417802.1:c.368C>G, XM_047417801.1:c.368C>G, XM_047417799.1:c.476C>G, XP_005248668.1:p.Pro159Arg, XP_005248667.1:p.Pro159Arg, NP_113670.1:p.Pro159Arg, XP_005248669.1:p.Pro123Arg, XP_011541963.1:p.Pro89Arg, XP_011541962.1:p.Pro117Arg, NP_001124500.1:p.Pro159Arg, XP_016865433.1:p.Pro123Arg, XP_047273754.1:p.Pro159Arg, XP_047273756.1:p.Pro159Arg, XP_047273759.1:p.Pro123Arg, XP_047273758.1:p.Pro123Arg, XP_047273757.1:p.Pro123Arg, XP_047273755.1:p.Pro159Arg

    2.

    rs1487960129 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      5:82252605 (GRCh38)
      5:81548424 (GRCh37)
      Canonical SPDI:
      NC_000005.10:82252604:G:A
      Gene:
      ATG10 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000005.10:g.82252605G>A, NC_000005.9:g.81548424G>A, XM_005248611.6:c.497G>A, XM_005248611.5:c.497G>A, XM_005248611.4:c.497G>A, XM_005248611.3:c.497G>A, XM_005248611.2:c.497G>A, XM_005248611.1:c.497G>A, XM_005248610.6:c.497G>A, XM_005248610.5:c.497G>A, XM_005248610.4:c.497G>A, XM_005248610.3:c.497G>A, XM_005248610.2:c.497G>A, XM_005248610.1:c.497G>A, NM_031482.5:c.497G>A, NM_031482.4:c.497G>A, XM_005248612.4:c.389G>A, XM_005248612.3:c.389G>A, XM_005248612.2:c.389G>A, XM_005248612.1:c.389G>A, XM_011543661.3:c.287G>A, XM_011543661.2:c.287G>A, XM_011543661.1:c.287G>A, XM_011543660.3:c.371G>A, XM_011543660.2:c.371G>A, XM_011543660.1:c.371G>A, NM_001131028.2:c.497G>A, NM_001131028.1:c.497G>A, XM_017009944.2:c.389G>A, XM_017009944.1:c.389G>A, XM_047417798.1:c.497G>A, XM_047417800.1:c.497G>A, XM_047417803.1:c.389G>A, XM_047417802.1:c.389G>A, XM_047417801.1:c.389G>A, XM_047417799.1:c.497G>A, XP_005248668.1:p.Cys166Tyr, XP_005248667.1:p.Cys166Tyr, NP_113670.1:p.Cys166Tyr, XP_005248669.1:p.Cys130Tyr, XP_011541963.1:p.Cys96Tyr, XP_011541962.1:p.Cys124Tyr, NP_001124500.1:p.Cys166Tyr, XP_016865433.1:p.Cys130Tyr, XP_047273754.1:p.Cys166Tyr, XP_047273756.1:p.Cys166Tyr, XP_047273759.1:p.Cys130Tyr, XP_047273758.1:p.Cys130Tyr, XP_047273757.1:p.Cys130Tyr, XP_047273755.1:p.Cys166Tyr

      3.

      rs1485143706 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        5:82164472 (GRCh38)
        5:81460291 (GRCh37)
        Canonical SPDI:
        NC_000005.10:82164471:A:G
        Gene:
        ATG10 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000005.10:g.82164472A>G, NC_000005.9:g.81460291A>G, XM_005248611.6:c.290A>G, XM_005248611.5:c.290A>G, XM_005248611.4:c.290A>G, XM_005248611.3:c.290A>G, XM_005248611.2:c.290A>G, XM_005248611.1:c.290A>G, XM_005248610.6:c.290A>G, XM_005248610.5:c.290A>G, XM_005248610.4:c.290A>G, XM_005248610.3:c.290A>G, XM_005248610.2:c.290A>G, XM_005248610.1:c.290A>G, NM_031482.5:c.290A>G, NM_031482.4:c.290A>G, XM_005248612.4:c.182A>G, XM_005248612.3:c.182A>G, XM_005248612.2:c.182A>G, XM_005248612.1:c.182A>G, XM_011543661.3:c.80A>G, XM_011543661.2:c.80A>G, XM_011543661.1:c.80A>G, XM_011543660.3:c.164A>G, XM_011543660.2:c.164A>G, XM_011543660.1:c.164A>G, NM_001131028.2:c.290A>G, NM_001131028.1:c.290A>G, XM_017009944.2:c.182A>G, XM_017009944.1:c.182A>G, XM_047417798.1:c.290A>G, XM_047417800.1:c.290A>G, XM_047417803.1:c.182A>G, XM_047417802.1:c.182A>G, XM_047417801.1:c.182A>G, XM_047417799.1:c.290A>G, XP_005248668.1:p.Glu97Gly, XP_005248667.1:p.Glu97Gly, NP_113670.1:p.Glu97Gly, XP_005248669.1:p.Glu61Gly, XP_011541963.1:p.Glu27Gly, XP_011541962.1:p.Glu55Gly, NP_001124500.1:p.Glu97Gly, XP_016865433.1:p.Glu61Gly, XP_047273754.1:p.Glu97Gly, XP_047273756.1:p.Glu97Gly, XP_047273759.1:p.Glu61Gly, XP_047273758.1:p.Glu61Gly, XP_047273757.1:p.Glu61Gly, XP_047273755.1:p.Glu97Gly

        4.

        rs1479410259 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          5:82178566 (GRCh38)
          5:81474385 (GRCh37)
          Canonical SPDI:
          NC_000005.10:82178565:A:G
          Gene:
          ATG10 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000005.10:g.82178566A>G, NC_000005.9:g.81474385A>G, XM_005248611.6:c.432A>G, XM_005248611.5:c.432A>G, XM_005248611.4:c.432A>G, XM_005248611.3:c.432A>G, XM_005248611.2:c.432A>G, XM_005248611.1:c.432A>G, XM_005248610.6:c.432A>G, XM_005248610.5:c.432A>G, XM_005248610.4:c.432A>G, XM_005248610.3:c.432A>G, XM_005248610.2:c.432A>G, XM_005248610.1:c.432A>G, NM_031482.5:c.432A>G, NM_031482.4:c.432A>G, XM_005248612.4:c.324A>G, XM_005248612.3:c.324A>G, XM_005248612.2:c.324A>G, XM_005248612.1:c.324A>G, XM_011543661.3:c.222A>G, XM_011543661.2:c.222A>G, XM_011543661.1:c.222A>G, XM_011543660.3:c.306A>G, XM_011543660.2:c.306A>G, XM_011543660.1:c.306A>G, NM_001131028.2:c.432A>G, NM_001131028.1:c.432A>G, XM_017009944.2:c.324A>G, XM_017009944.1:c.324A>G, XM_047417798.1:c.432A>G, XM_047417800.1:c.432A>G, XM_047417803.1:c.324A>G, XM_047417802.1:c.324A>G, XM_047417801.1:c.324A>G, XM_047417799.1:c.432A>G

          5.

          rs1476507455 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            5:82164411 (GRCh38)
            5:81460230 (GRCh37)
            Canonical SPDI:
            NC_000005.10:82164410:C:T
            Gene:
            ATG10 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.82164411C>T, NC_000005.9:g.81460230C>T, XM_005248611.6:c.229C>T, XM_005248611.5:c.229C>T, XM_005248611.4:c.229C>T, XM_005248611.3:c.229C>T, XM_005248611.2:c.229C>T, XM_005248611.1:c.229C>T, XM_005248610.6:c.229C>T, XM_005248610.5:c.229C>T, XM_005248610.4:c.229C>T, XM_005248610.3:c.229C>T, XM_005248610.2:c.229C>T, XM_005248610.1:c.229C>T, NM_031482.5:c.229C>T, NM_031482.4:c.229C>T, XM_005248612.4:c.121C>T, XM_005248612.3:c.121C>T, XM_005248612.2:c.121C>T, XM_005248612.1:c.121C>T, XM_011543661.3:c.19C>T, XM_011543661.2:c.19C>T, XM_011543661.1:c.19C>T, XM_011543660.3:c.103C>T, XM_011543660.2:c.103C>T, XM_011543660.1:c.103C>T, NM_001131028.2:c.229C>T, NM_001131028.1:c.229C>T, XM_017009944.2:c.121C>T, XM_017009944.1:c.121C>T, XM_047417798.1:c.229C>T, XM_047417800.1:c.229C>T, XM_047417803.1:c.121C>T, XM_047417802.1:c.121C>T, XM_047417801.1:c.121C>T, XM_047417799.1:c.229C>T

            6.

            rs1474547148 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              5:82253325 (GRCh38)
              5:81549144 (GRCh37)
              Canonical SPDI:
              NC_000005.10:82253324:A:G
              Gene:
              ATG10 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.82253325A>G, NC_000005.9:g.81549144A>G, XM_005248611.6:c.563A>G, XM_005248611.5:c.563A>G, XM_005248611.4:c.563A>G, XM_005248611.3:c.563A>G, XM_005248611.2:c.563A>G, XM_005248611.1:c.563A>G, XM_005248610.6:c.563A>G, XM_005248610.5:c.563A>G, XM_005248610.4:c.563A>G, XM_005248610.3:c.563A>G, XM_005248610.2:c.563A>G, XM_005248610.1:c.563A>G, NM_031482.5:c.563A>G, NM_031482.4:c.563A>G, XM_005248612.4:c.455A>G, XM_005248612.3:c.455A>G, XM_005248612.2:c.455A>G, XM_005248612.1:c.455A>G, XM_011543661.3:c.353A>G, XM_011543661.2:c.353A>G, XM_011543661.1:c.353A>G, XM_011543660.3:c.437A>G, XM_011543660.2:c.437A>G, XM_011543660.1:c.437A>G, NM_001131028.2:c.563A>G, NM_001131028.1:c.563A>G, XM_017009944.2:c.455A>G, XM_017009944.1:c.455A>G, XM_047417798.1:c.563A>G, XM_047417800.1:c.563A>G, XM_047417803.1:c.455A>G, XM_047417802.1:c.455A>G, XM_047417801.1:c.455A>G, XM_047417799.1:c.563A>G, XP_005248668.1:p.Tyr188Cys, XP_005248667.1:p.Tyr188Cys, NP_113670.1:p.Tyr188Cys, XP_005248669.1:p.Tyr152Cys, XP_011541963.1:p.Tyr118Cys, XP_011541962.1:p.Tyr146Cys, NP_001124500.1:p.Tyr188Cys, XP_016865433.1:p.Tyr152Cys, XP_047273754.1:p.Tyr188Cys, XP_047273756.1:p.Tyr188Cys, XP_047273759.1:p.Tyr152Cys, XP_047273758.1:p.Tyr152Cys, XP_047273757.1:p.Tyr152Cys, XP_047273755.1:p.Tyr188Cys

              7.

              rs1472468986 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:82253382 (GRCh38)
                5:81549201 (GRCh37)
                Canonical SPDI:
                NC_000005.10:82253381:G:A
                Gene:
                ATG10 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000005.10:g.82253382G>A, NC_000005.9:g.81549201G>A, XM_005248611.6:c.620G>A, XM_005248611.5:c.620G>A, XM_005248611.4:c.620G>A, XM_005248611.3:c.620G>A, XM_005248611.2:c.620G>A, XM_005248611.1:c.620G>A, XM_005248610.6:c.620G>A, XM_005248610.5:c.620G>A, XM_005248610.4:c.620G>A, XM_005248610.3:c.620G>A, XM_005248610.2:c.620G>A, XM_005248610.1:c.620G>A, NM_031482.5:c.620G>A, NM_031482.4:c.620G>A, XM_005248612.4:c.512G>A, XM_005248612.3:c.512G>A, XM_005248612.2:c.512G>A, XM_005248612.1:c.512G>A, XM_011543661.3:c.410G>A, XM_011543661.2:c.410G>A, XM_011543661.1:c.410G>A, XM_011543660.3:c.494G>A, XM_011543660.2:c.494G>A, XM_011543660.1:c.494G>A, NM_001131028.2:c.620G>A, NM_001131028.1:c.620G>A, XM_017009944.2:c.512G>A, XM_017009944.1:c.512G>A, XM_047417798.1:c.620G>A, XM_047417800.1:c.620G>A, XM_047417803.1:c.512G>A, XM_047417802.1:c.512G>A, XM_047417801.1:c.512G>A, XM_047417799.1:c.620G>A, XP_005248668.1:p.Ser207Asn, XP_005248667.1:p.Ser207Asn, NP_113670.1:p.Ser207Asn, XP_005248669.1:p.Ser171Asn, XP_011541963.1:p.Ser137Asn, XP_011541962.1:p.Ser165Asn, NP_001124500.1:p.Ser207Asn, XP_016865433.1:p.Ser171Asn, XP_047273754.1:p.Ser207Asn, XP_047273756.1:p.Ser207Asn, XP_047273759.1:p.Ser171Asn, XP_047273758.1:p.Ser171Asn, XP_047273757.1:p.Ser171Asn, XP_047273755.1:p.Ser207Asn

                8.

                rs1465748394 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  5:82178531 (GRCh38)
                  5:81474350 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:82178530:C:T
                  Gene:
                  ATG10 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_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_000005.10:g.82178531C>T, NC_000005.9:g.81474350C>T, XM_005248611.6:c.397C>T, XM_005248611.5:c.397C>T, XM_005248611.4:c.397C>T, XM_005248611.3:c.397C>T, XM_005248611.2:c.397C>T, XM_005248611.1:c.397C>T, XM_005248610.6:c.397C>T, XM_005248610.5:c.397C>T, XM_005248610.4:c.397C>T, XM_005248610.3:c.397C>T, XM_005248610.2:c.397C>T, XM_005248610.1:c.397C>T, NM_031482.5:c.397C>T, NM_031482.4:c.397C>T, XM_005248612.4:c.289C>T, XM_005248612.3:c.289C>T, XM_005248612.2:c.289C>T, XM_005248612.1:c.289C>T, XM_011543661.3:c.187C>T, XM_011543661.2:c.187C>T, XM_011543661.1:c.187C>T, XM_011543660.3:c.271C>T, XM_011543660.2:c.271C>T, XM_011543660.1:c.271C>T, NM_001131028.2:c.397C>T, NM_001131028.1:c.397C>T, XM_017009944.2:c.289C>T, XM_017009944.1:c.289C>T, XM_047417798.1:c.397C>T, XM_047417800.1:c.397C>T, XM_047417803.1:c.289C>T, XM_047417802.1:c.289C>T, XM_047417801.1:c.289C>T, XM_047417799.1:c.397C>T, XP_005248668.1:p.His133Tyr, XP_005248667.1:p.His133Tyr, NP_113670.1:p.His133Tyr, XP_005248669.1:p.His97Tyr, XP_011541963.1:p.His63Tyr, XP_011541962.1:p.His91Tyr, NP_001124500.1:p.His133Tyr, XP_016865433.1:p.His97Tyr, XP_047273754.1:p.His133Tyr, XP_047273756.1:p.His133Tyr, XP_047273759.1:p.His97Tyr, XP_047273758.1:p.His97Tyr, XP_047273757.1:p.His97Tyr, XP_047273755.1:p.His133Tyr

                  9.

                  rs1458371127 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    5:81987678 (GRCh38)
                    5:81283497 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:81987677:G:A
                    Gene:
                    ATG10 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1449134951 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      5:82164478 (GRCh38)
                      5:81460297 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:82164477:A:G
                      Gene:
                      ATG10 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000047/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000005.10:g.82164478A>G, NC_000005.9:g.81460297A>G, XM_005248611.6:c.296A>G, XM_005248611.5:c.296A>G, XM_005248611.4:c.296A>G, XM_005248611.3:c.296A>G, XM_005248611.2:c.296A>G, XM_005248611.1:c.296A>G, XM_005248610.6:c.296A>G, XM_005248610.5:c.296A>G, XM_005248610.4:c.296A>G, XM_005248610.3:c.296A>G, XM_005248610.2:c.296A>G, XM_005248610.1:c.296A>G, NM_031482.5:c.296A>G, NM_031482.4:c.296A>G, XM_005248612.4:c.188A>G, XM_005248612.3:c.188A>G, XM_005248612.2:c.188A>G, XM_005248612.1:c.188A>G, XM_011543661.3:c.86A>G, XM_011543661.2:c.86A>G, XM_011543661.1:c.86A>G, XM_011543660.3:c.170A>G, XM_011543660.2:c.170A>G, XM_011543660.1:c.170A>G, NM_001131028.2:c.296A>G, NM_001131028.1:c.296A>G, XM_017009944.2:c.188A>G, XM_017009944.1:c.188A>G, XM_047417798.1:c.296A>G, XM_047417800.1:c.296A>G, XM_047417803.1:c.188A>G, XM_047417802.1:c.188A>G, XM_047417801.1:c.188A>G, XM_047417799.1:c.296A>G, XP_005248668.1:p.His99Arg, XP_005248667.1:p.His99Arg, NP_113670.1:p.His99Arg, XP_005248669.1:p.His63Arg, XP_011541963.1:p.His29Arg, XP_011541962.1:p.His57Arg, NP_001124500.1:p.His99Arg, XP_016865433.1:p.His63Arg, XP_047273754.1:p.His99Arg, XP_047273756.1:p.His99Arg, XP_047273759.1:p.His63Arg, XP_047273758.1:p.His63Arg, XP_047273757.1:p.His63Arg, XP_047273755.1:p.His99Arg

                      11.

                      rs1446870072 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        5:82178511 (GRCh38)
                        5:81474330 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:82178510:A:C
                        Gene:
                        ATG10 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        NC_000005.10:g.82178511A>C, NC_000005.9:g.81474330A>C, XM_005248611.6:c.377A>C, XM_005248611.5:c.377A>C, XM_005248611.4:c.377A>C, XM_005248611.3:c.377A>C, XM_005248611.2:c.377A>C, XM_005248611.1:c.377A>C, XM_005248610.6:c.377A>C, XM_005248610.5:c.377A>C, XM_005248610.4:c.377A>C, XM_005248610.3:c.377A>C, XM_005248610.2:c.377A>C, XM_005248610.1:c.377A>C, NM_031482.5:c.377A>C, NM_031482.4:c.377A>C, XM_005248612.4:c.269A>C, XM_005248612.3:c.269A>C, XM_005248612.2:c.269A>C, XM_005248612.1:c.269A>C, XM_011543661.3:c.167A>C, XM_011543661.2:c.167A>C, XM_011543661.1:c.167A>C, XM_011543660.3:c.251A>C, XM_011543660.2:c.251A>C, XM_011543660.1:c.251A>C, NM_001131028.2:c.377A>C, NM_001131028.1:c.377A>C, XM_017009944.2:c.269A>C, XM_017009944.1:c.269A>C, XM_047417798.1:c.377A>C, XM_047417800.1:c.377A>C, XM_047417803.1:c.269A>C, XM_047417802.1:c.269A>C, XM_047417801.1:c.269A>C, XM_047417799.1:c.377A>C, XP_005248668.1:p.Lys126Thr, XP_005248667.1:p.Lys126Thr, NP_113670.1:p.Lys126Thr, XP_005248669.1:p.Lys90Thr, XP_011541963.1:p.Lys56Thr, XP_011541962.1:p.Lys84Thr, NP_001124500.1:p.Lys126Thr, XP_016865433.1:p.Lys90Thr, XP_047273754.1:p.Lys126Thr, XP_047273756.1:p.Lys126Thr, XP_047273759.1:p.Lys90Thr, XP_047273758.1:p.Lys90Thr, XP_047273757.1:p.Lys90Thr, XP_047273755.1:p.Lys126Thr

                        12.

                        rs1445686960 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:82253404 (GRCh38)
                          5:81549223 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:82253403:G:A
                          Gene:
                          ATG10 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000005.10:g.82253404G>A, NC_000005.9:g.81549223G>A, XM_005248611.6:c.642G>A, XM_005248611.5:c.642G>A, XM_005248611.4:c.642G>A, XM_005248611.3:c.642G>A, XM_005248611.2:c.642G>A, XM_005248611.1:c.642G>A, XM_005248610.6:c.642G>A, XM_005248610.5:c.642G>A, XM_005248610.4:c.642G>A, XM_005248610.3:c.642G>A, XM_005248610.2:c.642G>A, XM_005248610.1:c.642G>A, NM_031482.5:c.642G>A, NM_031482.4:c.642G>A, XM_005248612.4:c.534G>A, XM_005248612.3:c.534G>A, XM_005248612.2:c.534G>A, XM_005248612.1:c.534G>A, XM_011543661.3:c.432G>A, XM_011543661.2:c.432G>A, XM_011543661.1:c.432G>A, XM_011543660.3:c.516G>A, XM_011543660.2:c.516G>A, XM_011543660.1:c.516G>A, NM_001131028.2:c.642G>A, NM_001131028.1:c.642G>A, XM_017009944.2:c.534G>A, XM_017009944.1:c.534G>A, XM_047417798.1:c.642G>A, XM_047417800.1:c.642G>A, XM_047417803.1:c.534G>A, XM_047417802.1:c.534G>A, XM_047417801.1:c.534G>A, XM_047417799.1:c.642G>A

                          13.

                          rs1445231670 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:82058562 (GRCh38)
                            5:81354381 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:82058561:T:C
                            Gene:
                            ATG10 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                            HGVS:
                            NC_000005.10:g.82058562T>C, NC_000005.9:g.81354381T>C, XM_005248611.6:c.176T>C, XM_005248611.5:c.176T>C, XM_005248611.4:c.176T>C, XM_005248611.3:c.176T>C, XM_005248611.2:c.176T>C, XM_005248611.1:c.176T>C, XM_005248610.6:c.176T>C, XM_005248610.5:c.176T>C, XM_005248610.4:c.176T>C, XM_005248610.3:c.176T>C, XM_005248610.2:c.176T>C, XM_005248610.1:c.176T>C, NM_031482.5:c.176T>C, NM_031482.4:c.176T>C, XM_011543660.3:c.50T>C, XM_011543660.2:c.50T>C, XM_011543660.1:c.50T>C, NM_001131028.2:c.176T>C, NM_001131028.1:c.176T>C, XM_047417798.1:c.176T>C, XM_047417800.1:c.176T>C, XM_047417799.1:c.176T>C, XP_005248668.1:p.Leu59Pro, XP_005248667.1:p.Leu59Pro, NP_113670.1:p.Leu59Pro, XP_011541962.1:p.Leu17Pro, NP_001124500.1:p.Leu59Pro, XP_047273754.1:p.Leu59Pro, XP_047273756.1:p.Leu59Pro, XP_047273755.1:p.Leu59Pro

                            14.

                            rs1431311553 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              5:82058589 (GRCh38)
                              5:81354408 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:82058588:G:T
                              Gene:
                              ATG10 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.0005/1 (Korea1K)
                              HGVS:
                              NC_000005.10:g.82058589G>T, NC_000005.9:g.81354408G>T, XM_005248611.6:c.203G>T, XM_005248611.5:c.203G>T, XM_005248611.4:c.203G>T, XM_005248611.3:c.203G>T, XM_005248611.2:c.203G>T, XM_005248611.1:c.203G>T, XM_005248610.6:c.203G>T, XM_005248610.5:c.203G>T, XM_005248610.4:c.203G>T, XM_005248610.3:c.203G>T, XM_005248610.2:c.203G>T, XM_005248610.1:c.203G>T, NM_031482.5:c.203G>T, NM_031482.4:c.203G>T, XM_011543660.3:c.77G>T, XM_011543660.2:c.77G>T, XM_011543660.1:c.77G>T, NM_001131028.2:c.203G>T, NM_001131028.1:c.203G>T, XM_047417798.1:c.203G>T, XM_047417800.1:c.203G>T, XM_047417799.1:c.203G>T, XP_005248668.1:p.Cys68Phe, XP_005248667.1:p.Cys68Phe, NP_113670.1:p.Cys68Phe, XP_011541962.1:p.Cys26Phe, NP_001124500.1:p.Cys68Phe, XP_047273754.1:p.Cys68Phe, XP_047273756.1:p.Cys68Phe, XP_047273755.1:p.Cys68Phe

                              15.

                              rs1429698191 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                5:82178570 (GRCh38)
                                5:81474389 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:82178569:G:C
                                Gene:
                                ATG10 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000007/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000005.10:g.82178570G>C, NC_000005.9:g.81474389G>C, XM_005248611.6:c.436G>C, XM_005248611.5:c.436G>C, XM_005248611.4:c.436G>C, XM_005248611.3:c.436G>C, XM_005248611.2:c.436G>C, XM_005248611.1:c.436G>C, XM_005248610.6:c.436G>C, XM_005248610.5:c.436G>C, XM_005248610.4:c.436G>C, XM_005248610.3:c.436G>C, XM_005248610.2:c.436G>C, XM_005248610.1:c.436G>C, NM_031482.5:c.436G>C, NM_031482.4:c.436G>C, XM_005248612.4:c.328G>C, XM_005248612.3:c.328G>C, XM_005248612.2:c.328G>C, XM_005248612.1:c.328G>C, XM_011543661.3:c.226G>C, XM_011543661.2:c.226G>C, XM_011543661.1:c.226G>C, XM_011543660.3:c.310G>C, XM_011543660.2:c.310G>C, XM_011543660.1:c.310G>C, NM_001131028.2:c.436G>C, NM_001131028.1:c.436G>C, XM_017009944.2:c.328G>C, XM_017009944.1:c.328G>C, XM_047417798.1:c.436G>C, XM_047417800.1:c.436G>C, XM_047417803.1:c.328G>C, XM_047417802.1:c.328G>C, XM_047417801.1:c.328G>C, XM_047417799.1:c.436G>C, XP_005248668.1:p.Asp146His, XP_005248667.1:p.Asp146His, NP_113670.1:p.Asp146His, XP_005248669.1:p.Asp110His, XP_011541963.1:p.Asp76His, XP_011541962.1:p.Asp104His, NP_001124500.1:p.Asp146His, XP_016865433.1:p.Asp110His, XP_047273754.1:p.Asp146His, XP_047273756.1:p.Asp146His, XP_047273759.1:p.Asp110His, XP_047273758.1:p.Asp110His, XP_047273757.1:p.Asp110His, XP_047273755.1:p.Asp146His

                                16.

                                rs1429550291 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:82253384 (GRCh38)
                                  5:81549203 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:82253383:T:C
                                  Gene:
                                  ATG10 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000005.10:g.82253384T>C, NC_000005.9:g.81549203T>C, XM_005248611.6:c.622T>C, XM_005248611.5:c.622T>C, XM_005248611.4:c.622T>C, XM_005248611.3:c.622T>C, XM_005248611.2:c.622T>C, XM_005248611.1:c.622T>C, XM_005248610.6:c.622T>C, XM_005248610.5:c.622T>C, XM_005248610.4:c.622T>C, XM_005248610.3:c.622T>C, XM_005248610.2:c.622T>C, XM_005248610.1:c.622T>C, NM_031482.5:c.622T>C, NM_031482.4:c.622T>C, XM_005248612.4:c.514T>C, XM_005248612.3:c.514T>C, XM_005248612.2:c.514T>C, XM_005248612.1:c.514T>C, XM_011543661.3:c.412T>C, XM_011543661.2:c.412T>C, XM_011543661.1:c.412T>C, XM_011543660.3:c.496T>C, XM_011543660.2:c.496T>C, XM_011543660.1:c.496T>C, NM_001131028.2:c.622T>C, NM_001131028.1:c.622T>C, XM_017009944.2:c.514T>C, XM_017009944.1:c.514T>C, XM_047417798.1:c.622T>C, XM_047417800.1:c.622T>C, XM_047417803.1:c.514T>C, XM_047417802.1:c.514T>C, XM_047417801.1:c.514T>C, XM_047417799.1:c.622T>C, XP_005248668.1:p.Tyr208His, XP_005248667.1:p.Tyr208His, NP_113670.1:p.Tyr208His, XP_005248669.1:p.Tyr172His, XP_011541963.1:p.Tyr138His, XP_011541962.1:p.Tyr166His, NP_001124500.1:p.Tyr208His, XP_016865433.1:p.Tyr172His, XP_047273754.1:p.Tyr208His, XP_047273756.1:p.Tyr208His, XP_047273759.1:p.Tyr172His, XP_047273758.1:p.Tyr172His, XP_047273757.1:p.Tyr172His, XP_047273755.1:p.Tyr208His

                                  17.

                                  rs1420206276 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    5:82252569 (GRCh38)
                                    5:81548388 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:82252568:C:G,NC_000005.10:82252568:C:T
                                    Gene:
                                    ATG10 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    G=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000005.10:g.82252569C>G, NC_000005.10:g.82252569C>T, NC_000005.9:g.81548388C>G, NC_000005.9:g.81548388C>T, XM_005248611.6:c.461C>G, XM_005248611.6:c.461C>T, XM_005248611.5:c.461C>G, XM_005248611.5:c.461C>T, XM_005248611.4:c.461C>G, XM_005248611.4:c.461C>T, XM_005248611.3:c.461C>G, XM_005248611.3:c.461C>T, XM_005248611.2:c.461C>G, XM_005248611.2:c.461C>T, XM_005248611.1:c.461C>G, XM_005248611.1:c.461C>T, XM_005248610.6:c.461C>G, XM_005248610.6:c.461C>T, XM_005248610.5:c.461C>G, XM_005248610.5:c.461C>T, XM_005248610.4:c.461C>G, XM_005248610.4:c.461C>T, XM_005248610.3:c.461C>G, XM_005248610.3:c.461C>T, XM_005248610.2:c.461C>G, XM_005248610.2:c.461C>T, XM_005248610.1:c.461C>G, XM_005248610.1:c.461C>T, NM_031482.5:c.461C>G, NM_031482.5:c.461C>T, NM_031482.4:c.461C>G, NM_031482.4:c.461C>T, XM_005248612.4:c.353C>G, XM_005248612.4:c.353C>T, XM_005248612.3:c.353C>G, XM_005248612.3:c.353C>T, XM_005248612.2:c.353C>G, XM_005248612.2:c.353C>T, XM_005248612.1:c.353C>G, XM_005248612.1:c.353C>T, XM_011543661.3:c.251C>G, XM_011543661.3:c.251C>T, XM_011543661.2:c.251C>G, XM_011543661.2:c.251C>T, XM_011543661.1:c.251C>G, XM_011543661.1:c.251C>T, XM_011543660.3:c.335C>G, XM_011543660.3:c.335C>T, XM_011543660.2:c.335C>G, XM_011543660.2:c.335C>T, XM_011543660.1:c.335C>G, XM_011543660.1:c.335C>T, NM_001131028.2:c.461C>G, NM_001131028.2:c.461C>T, NM_001131028.1:c.461C>G, NM_001131028.1:c.461C>T, XM_017009944.2:c.353C>G, XM_017009944.2:c.353C>T, XM_017009944.1:c.353C>G, XM_017009944.1:c.353C>T, XM_047417798.1:c.461C>G, XM_047417798.1:c.461C>T, XM_047417800.1:c.461C>G, XM_047417800.1:c.461C>T, XM_047417803.1:c.353C>G, XM_047417803.1:c.353C>T, XM_047417802.1:c.353C>G, XM_047417802.1:c.353C>T, XM_047417801.1:c.353C>G, XM_047417801.1:c.353C>T, XM_047417799.1:c.461C>G, XM_047417799.1:c.461C>T, XP_005248668.1:p.Pro154Arg, XP_005248668.1:p.Pro154Leu, XP_005248667.1:p.Pro154Arg, XP_005248667.1:p.Pro154Leu, NP_113670.1:p.Pro154Arg, NP_113670.1:p.Pro154Leu, XP_005248669.1:p.Pro118Arg, XP_005248669.1:p.Pro118Leu, XP_011541963.1:p.Pro84Arg, XP_011541963.1:p.Pro84Leu, XP_011541962.1:p.Pro112Arg, XP_011541962.1:p.Pro112Leu, NP_001124500.1:p.Pro154Arg, NP_001124500.1:p.Pro154Leu, XP_016865433.1:p.Pro118Arg, XP_016865433.1:p.Pro118Leu, XP_047273754.1:p.Pro154Arg, XP_047273754.1:p.Pro154Leu, XP_047273756.1:p.Pro154Arg, XP_047273756.1:p.Pro154Leu, XP_047273759.1:p.Pro118Arg, XP_047273759.1:p.Pro118Leu, XP_047273758.1:p.Pro118Arg, XP_047273758.1:p.Pro118Leu, XP_047273757.1:p.Pro118Arg, XP_047273757.1:p.Pro118Leu, XP_047273755.1:p.Pro154Arg, XP_047273755.1:p.Pro154Leu

                                    18.

                                    rs1419144357 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      5:81987573 (GRCh38)
                                      5:81283392 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:81987572:GG:G
                                      Gene:
                                      ATG10 (Varview)
                                      Functional Consequence:
                                      initiator_codon_variant,frameshift_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GG=0.000071/1 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.81987574del, NC_000005.9:g.81283393del, XM_005248611.6:c.4del, XM_005248611.5:c.4del, XM_005248611.4:c.4del, XM_005248611.3:c.4del, XM_005248611.2:c.4del, XM_005248611.1:c.4del, XM_005248610.6:c.4del, XM_005248610.5:c.4del, XM_005248610.4:c.4del, XM_005248610.3:c.4del, XM_005248610.2:c.4del, XM_005248610.1:c.4del, NM_031482.5:c.4del, NM_031482.4:c.4del, XM_005248612.4:c.4del, XM_005248612.3:c.4del, XM_005248612.2:c.4del, XM_005248612.1:c.4del, NM_001131028.2:c.4del, NM_001131028.1:c.4del, XM_017009944.2:c.4del, XM_017009944.1:c.4del, XM_047417798.1:c.4del, XM_047417800.1:c.4del, XM_047417803.1:c.4del, XM_047417802.1:c.4del, XM_047417801.1:c.4del, XM_047417799.1:c.4del, XP_005248668.1:p.Glu2fs, XP_005248667.1:p.Glu2fs, NP_113670.1:p.Glu2fs, XP_005248669.1:p.Glu2fs, NP_001124500.1:p.Glu2fs, XP_016865433.1:p.Glu2fs, XP_047273754.1:p.Glu2fs, XP_047273756.1:p.Glu2fs, XP_047273759.1:p.Glu2fs, XP_047273758.1:p.Glu2fs, XP_047273757.1:p.Glu2fs, XP_047273755.1:p.Glu2fs

                                      19.

                                      rs1411359560 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        5:82058514 (GRCh38)
                                        5:81354333 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:82058513:T:A
                                        Gene:
                                        ATG10 (Varview)
                                        Functional Consequence:
                                        missense_variant,initiator_codon_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000047/1 (ALFA)
                                        A=0.00002/5 (GnomAD_exomes)
                                        HGVS:
                                        NC_000005.10:g.82058514T>A, NC_000005.9:g.81354333T>A, XM_005248611.6:c.128T>A, XM_005248611.5:c.128T>A, XM_005248611.4:c.128T>A, XM_005248611.3:c.128T>A, XM_005248611.2:c.128T>A, XM_005248611.1:c.128T>A, XM_005248610.6:c.128T>A, XM_005248610.5:c.128T>A, XM_005248610.4:c.128T>A, XM_005248610.3:c.128T>A, XM_005248610.2:c.128T>A, XM_005248610.1:c.128T>A, NM_031482.5:c.128T>A, NM_031482.4:c.128T>A, XM_011543660.3:c.2T>A, XM_011543660.2:c.2T>A, XM_011543660.1:c.2T>A, NM_001131028.2:c.128T>A, NM_001131028.1:c.128T>A, XM_047417798.1:c.128T>A, XM_047417800.1:c.128T>A, XM_047417799.1:c.128T>A, XP_005248668.1:p.Met43Lys, XP_005248667.1:p.Met43Lys, NP_113670.1:p.Met43Lys, XP_011541962.1:p.Met1Lys, NP_001124500.1:p.Met43Lys, XP_047273754.1:p.Met43Lys, XP_047273756.1:p.Met43Lys, XP_047273755.1:p.Met43Lys

                                        20.

                                        rs1406505780 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:81987589 (GRCh38)
                                          5:81283408 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:81987588:A:G
                                          Gene:
                                          ATG10 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000005.10:g.81987589A>G, NC_000005.9:g.81283408A>G, XM_005248611.6:c.19A>G, XM_005248611.5:c.19A>G, XM_005248611.4:c.19A>G, XM_005248611.3:c.19A>G, XM_005248611.2:c.19A>G, XM_005248611.1:c.19A>G, XM_005248610.6:c.19A>G, XM_005248610.5:c.19A>G, XM_005248610.4:c.19A>G, XM_005248610.3:c.19A>G, XM_005248610.2:c.19A>G, XM_005248610.1:c.19A>G, NM_031482.5:c.19A>G, NM_031482.4:c.19A>G, XM_005248612.4:c.19A>G, XM_005248612.3:c.19A>G, XM_005248612.2:c.19A>G, XM_005248612.1:c.19A>G, NM_001131028.2:c.19A>G, NM_001131028.1:c.19A>G, XM_017009944.2:c.19A>G, XM_017009944.1:c.19A>G, XM_047417798.1:c.19A>G, XM_047417800.1:c.19A>G, XM_047417803.1:c.19A>G, XM_047417802.1:c.19A>G, XM_047417801.1:c.19A>G, XM_047417799.1:c.19A>G, XP_005248668.1:p.Ile7Val, XP_005248667.1:p.Ile7Val, NP_113670.1:p.Ile7Val, XP_005248669.1:p.Ile7Val, NP_001124500.1:p.Ile7Val, XP_016865433.1:p.Ile7Val, XP_047273754.1:p.Ile7Val, XP_047273756.1:p.Ile7Val, XP_047273759.1:p.Ile7Val, XP_047273758.1:p.Ile7Val, XP_047273757.1:p.Ile7Val, XP_047273755.1:p.Ile7Val

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