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Items: 1 to 20 of 421

1.

rs1489874508 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:20770210 (GRCh38)
    16:20781532 (GRCh37)
    Canonical SPDI:
    NC_000016.10:20770209:A:G
    Gene:
    ACSM3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000111/1 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.20770210A>G, NC_000016.9:g.20781532A>G, NM_005622.4:c.176A>G, NM_005622.3:c.176A>G, XM_011545911.3:c.176A>G, XM_011545911.2:c.176A>G, XM_011545911.1:c.176A>G, XM_017023523.3:c.176A>G, XM_017023523.2:c.176A>G, XM_017023523.1:c.176A>G, NM_202000.3:c.176A>G, NM_202000.2:c.176A>G, XM_024450368.2:c.176A>G, XM_024450368.1:c.176A>G, XM_024450370.2:c.176A>G, XM_024450370.1:c.176A>G, XM_024450367.2:c.176A>G, XM_024450367.1:c.176A>G, XM_047434428.1:c.176A>G, XM_047434420.1:c.176A>G, XM_047434427.1:c.176A>G, XM_047434419.1:c.176A>G, XM_047434422.1:c.176A>G, XM_047434432.1:c.176A>G, XM_047434423.1:c.176A>G, XM_047434441.1:c.176A>G, XM_047434421.1:c.176A>G, XM_047434424.1:c.176A>G, XM_047434435.1:c.176A>G, XM_047434426.1:c.176A>G, XM_047434434.1:c.176A>G, XM_047434429.1:c.176A>G, XM_047434438.1:c.176A>G, XM_047434425.1:c.176A>G, XM_047434437.1:c.176A>G, XM_047434436.1:c.176A>G, XM_047434431.1:c.176A>G, XM_047434430.1:c.176A>G, XM_047434439.1:c.176A>G, XM_047434433.1:c.176A>G, XM_047434440.1:c.176A>G, NP_005613.2:p.Asn59Ser, XP_011544213.1:p.Asn59Ser, XP_016879012.1:p.Asn59Ser, NP_973729.1:p.Asn59Ser, XP_024306136.1:p.Asn59Ser, XP_024306138.1:p.Asn59Ser, XP_024306135.1:p.Asn59Ser, XP_047290384.1:p.Asn59Ser, XP_047290376.1:p.Asn59Ser, XP_047290383.1:p.Asn59Ser, XP_047290375.1:p.Asn59Ser, XP_047290378.1:p.Asn59Ser, XP_047290388.1:p.Asn59Ser, XP_047290379.1:p.Asn59Ser, XP_047290397.1:p.Asn59Ser, XP_047290377.1:p.Asn59Ser, XP_047290380.1:p.Asn59Ser, XP_047290391.1:p.Asn59Ser, XP_047290382.1:p.Asn59Ser, XP_047290390.1:p.Asn59Ser, XP_047290385.1:p.Asn59Ser, XP_047290394.1:p.Asn59Ser, XP_047290381.1:p.Asn59Ser, XP_047290393.1:p.Asn59Ser, XP_047290392.1:p.Asn59Ser, XP_047290387.1:p.Asn59Ser, XP_047290386.1:p.Asn59Ser, XP_047290395.1:p.Asn59Ser, XP_047290389.1:p.Asn59Ser, XP_047290396.1:p.Asn59Ser

    2.

    rs1488728904 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:20777389 (GRCh38)
      16:20788711 (GRCh37)
      Canonical SPDI:
      NC_000016.10:20777388:A:G
      Gene:
      ACSM3 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.20777389A>G, NC_000016.9:g.20788711A>G, NM_005622.4:c.447A>G, NM_005622.3:c.447A>G, XM_011545911.3:c.447A>G, XM_011545911.2:c.447A>G, XM_011545911.1:c.447A>G, XM_017023523.3:c.447A>G, XM_017023523.2:c.447A>G, XM_017023523.1:c.447A>G, NM_202000.3:c.447A>G, NM_202000.2:c.447A>G, XM_024450368.2:c.447A>G, XM_024450368.1:c.447A>G, XM_024450370.2:c.447A>G, XM_024450370.1:c.447A>G, XM_024450367.2:c.447A>G, XM_024450367.1:c.447A>G, XM_047434428.1:c.447A>G, XM_047434420.1:c.447A>G, XM_047434427.1:c.447A>G, XM_047434419.1:c.447A>G, XM_047434422.1:c.447A>G, XM_047434432.1:c.447A>G, XM_047434423.1:c.447A>G, XM_047434441.1:c.447A>G, XM_047434421.1:c.447A>G, XM_047434424.1:c.447A>G, XM_047434435.1:c.447A>G, XM_047434426.1:c.447A>G, XM_047434434.1:c.447A>G, XM_047434429.1:c.447A>G, XM_047434438.1:c.447A>G, XM_047434425.1:c.447A>G, XM_047434437.1:c.447A>G, XM_047434436.1:c.447A>G, XM_047434431.1:c.447A>G, XM_047434430.1:c.447A>G, XM_047434439.1:c.447A>G, XM_047434433.1:c.447A>G, XM_047434440.1:c.447A>G

      3.

      rs1488238314 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        16:20781031 (GRCh38)
        16:20792353 (GRCh37)
        Canonical SPDI:
        NC_000016.10:20781030:G:C
        Gene:
        ACSM3 (Varview), ERI2 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000142/2 (ALFA)
        C=0.000011/3 (TOPMED)
        C=0.000014/2 (GnomAD)
        HGVS:
        NC_000016.10:g.20781031G>C, NC_000016.9:g.20792353G>C, NM_005622.4:c.840G>C, NM_005622.3:c.840G>C, XM_011545911.3:c.951G>C, XM_011545911.2:c.951G>C, XM_011545911.1:c.951G>C, XM_017023523.3:c.840G>C, XM_017023523.2:c.840G>C, XM_017023523.1:c.840G>C, NM_202000.3:c.840G>C, NM_202000.2:c.840G>C, XM_024450368.2:c.951G>C, XM_024450368.1:c.951G>C, XM_024450370.2:c.840G>C, XM_024450370.1:c.840G>C, XM_024450367.2:c.951G>C, XM_024450367.1:c.951G>C, XM_047434428.1:c.951G>C, XM_047434420.1:c.951G>C, XM_047434427.1:c.951G>C, XM_047434419.1:c.951G>C, XM_047434422.1:c.951G>C, XM_047434432.1:c.951G>C, XM_047434423.1:c.951G>C, XM_047434441.1:c.840G>C, XM_047434421.1:c.951G>C, XM_047434424.1:c.951G>C, XM_047434435.1:c.840G>C, XM_047434426.1:c.951G>C, XM_047434434.1:c.840G>C, XM_047434429.1:c.951G>C, XM_047434438.1:c.840G>C, XM_047434425.1:c.951G>C, XM_047434437.1:c.840G>C, XM_047434436.1:c.840G>C, XM_047434431.1:c.951G>C, XM_047434430.1:c.951G>C, XM_047434439.1:c.840G>C, XM_047434433.1:c.951G>C, XM_047434440.1:c.840G>C, NP_005613.2:p.Trp280Cys, XP_011544213.1:p.Trp317Cys, XP_016879012.1:p.Trp280Cys, NP_973729.1:p.Trp280Cys, XP_024306136.1:p.Trp317Cys, XP_024306138.1:p.Trp280Cys, XP_024306135.1:p.Trp317Cys, XP_047290384.1:p.Trp317Cys, XP_047290376.1:p.Trp317Cys, XP_047290383.1:p.Trp317Cys, XP_047290375.1:p.Trp317Cys, XP_047290378.1:p.Trp317Cys, XP_047290388.1:p.Trp317Cys, XP_047290379.1:p.Trp317Cys, XP_047290397.1:p.Trp280Cys, XP_047290377.1:p.Trp317Cys, XP_047290380.1:p.Trp317Cys, XP_047290391.1:p.Trp280Cys, XP_047290382.1:p.Trp317Cys, XP_047290390.1:p.Trp280Cys, XP_047290385.1:p.Trp317Cys, XP_047290394.1:p.Trp280Cys, XP_047290381.1:p.Trp317Cys, XP_047290393.1:p.Trp280Cys, XP_047290392.1:p.Trp280Cys, XP_047290387.1:p.Trp317Cys, XP_047290386.1:p.Trp317Cys, XP_047290395.1:p.Trp280Cys, XP_047290389.1:p.Trp317Cys, XP_047290396.1:p.Trp280Cys

        4.

        rs1486024410 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          16:20781711 (GRCh38)
          16:20793033 (GRCh37)
          Canonical SPDI:
          NC_000016.10:20781710:C:A,NC_000016.10:20781710:C:G,NC_000016.10:20781710:C:T
          Gene:
          ACSM3 (Varview), ERI2 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          G=0.000035/1 (TOMMO)
          HGVS:
          NC_000016.10:g.20781711C>A, NC_000016.10:g.20781711C>G, NC_000016.10:g.20781711C>T, NC_000016.9:g.20793033C>A, NC_000016.9:g.20793033C>G, NC_000016.9:g.20793033C>T, NM_005622.4:c.943C>A, NM_005622.4:c.943C>G, NM_005622.4:c.943C>T, NM_005622.3:c.943C>A, NM_005622.3:c.943C>G, NM_005622.3:c.943C>T, XM_011545911.3:c.1054C>A, XM_011545911.3:c.1054C>G, XM_011545911.3:c.1054C>T, XM_011545911.2:c.1054C>A, XM_011545911.2:c.1054C>G, XM_011545911.2:c.1054C>T, XM_011545911.1:c.1054C>A, XM_011545911.1:c.1054C>G, XM_011545911.1:c.1054C>T, XM_017023523.3:c.943C>A, XM_017023523.3:c.943C>G, XM_017023523.3:c.943C>T, XM_017023523.2:c.943C>A, XM_017023523.2:c.943C>G, XM_017023523.2:c.943C>T, XM_017023523.1:c.943C>A, XM_017023523.1:c.943C>G, XM_017023523.1:c.943C>T, NM_202000.3:c.943C>A, NM_202000.3:c.943C>G, NM_202000.3:c.943C>T, NM_202000.2:c.943C>A, NM_202000.2:c.943C>G, NM_202000.2:c.943C>T, XM_024450368.2:c.1054C>A, XM_024450368.2:c.1054C>G, XM_024450368.2:c.1054C>T, XM_024450368.1:c.1054C>A, XM_024450368.1:c.1054C>G, XM_024450368.1:c.1054C>T, XM_024450370.2:c.943C>A, XM_024450370.2:c.943C>G, XM_024450370.2:c.943C>T, XM_024450370.1:c.943C>A, XM_024450370.1:c.943C>G, XM_024450370.1:c.943C>T, XM_024450367.2:c.1054C>A, XM_024450367.2:c.1054C>G, XM_024450367.2:c.1054C>T, XM_024450367.1:c.1054C>A, XM_024450367.1:c.1054C>G, XM_024450367.1:c.1054C>T, XM_047434428.1:c.1054C>A, XM_047434428.1:c.1054C>G, XM_047434428.1:c.1054C>T, XM_047434420.1:c.1054C>A, XM_047434420.1:c.1054C>G, XM_047434420.1:c.1054C>T, XM_047434427.1:c.1054C>A, XM_047434427.1:c.1054C>G, XM_047434427.1:c.1054C>T, XM_047434419.1:c.1054C>A, XM_047434419.1:c.1054C>G, XM_047434419.1:c.1054C>T, XM_047434422.1:c.1054C>A, XM_047434422.1:c.1054C>G, XM_047434422.1:c.1054C>T, XM_047434432.1:c.1054C>A, XM_047434432.1:c.1054C>G, XM_047434432.1:c.1054C>T, XM_047434423.1:c.1054C>A, XM_047434423.1:c.1054C>G, XM_047434423.1:c.1054C>T, XM_047434441.1:c.943C>A, XM_047434441.1:c.943C>G, XM_047434441.1:c.943C>T, XM_047434421.1:c.1054C>A, XM_047434421.1:c.1054C>G, XM_047434421.1:c.1054C>T, XM_047434424.1:c.1054C>A, XM_047434424.1:c.1054C>G, XM_047434424.1:c.1054C>T, XM_047434435.1:c.943C>A, XM_047434435.1:c.943C>G, XM_047434435.1:c.943C>T, XM_047434426.1:c.1054C>A, XM_047434426.1:c.1054C>G, XM_047434426.1:c.1054C>T, XM_047434434.1:c.943C>A, XM_047434434.1:c.943C>G, XM_047434434.1:c.943C>T, XM_047434429.1:c.1054C>A, XM_047434429.1:c.1054C>G, XM_047434429.1:c.1054C>T, XM_047434438.1:c.943C>A, XM_047434438.1:c.943C>G, XM_047434438.1:c.943C>T, XM_047434425.1:c.1054C>A, XM_047434425.1:c.1054C>G, XM_047434425.1:c.1054C>T, XM_047434437.1:c.943C>A, XM_047434437.1:c.943C>G, XM_047434437.1:c.943C>T, XM_047434436.1:c.943C>A, XM_047434436.1:c.943C>G, XM_047434436.1:c.943C>T, XM_047434431.1:c.1054C>A, XM_047434431.1:c.1054C>G, XM_047434431.1:c.1054C>T, XM_047434430.1:c.1054C>A, XM_047434430.1:c.1054C>G, XM_047434430.1:c.1054C>T, XM_047434439.1:c.943C>A, XM_047434439.1:c.943C>G, XM_047434439.1:c.943C>T, XM_047434433.1:c.1054C>A, XM_047434433.1:c.1054C>G, XM_047434433.1:c.1054C>T, XM_047434440.1:c.943C>A, XM_047434440.1:c.943C>G, XM_047434440.1:c.943C>T, NP_005613.2:p.Leu315Ile, NP_005613.2:p.Leu315Val, NP_005613.2:p.Leu315Phe, XP_011544213.1:p.Leu352Ile, XP_011544213.1:p.Leu352Val, XP_011544213.1:p.Leu352Phe, XP_016879012.1:p.Leu315Ile, XP_016879012.1:p.Leu315Val, XP_016879012.1:p.Leu315Phe, NP_973729.1:p.Leu315Ile, NP_973729.1:p.Leu315Val, NP_973729.1:p.Leu315Phe, XP_024306136.1:p.Leu352Ile, XP_024306136.1:p.Leu352Val, XP_024306136.1:p.Leu352Phe, XP_024306138.1:p.Leu315Ile, XP_024306138.1:p.Leu315Val, XP_024306138.1:p.Leu315Phe, XP_024306135.1:p.Leu352Ile, XP_024306135.1:p.Leu352Val, XP_024306135.1:p.Leu352Phe, XP_047290384.1:p.Leu352Ile, XP_047290384.1:p.Leu352Val, XP_047290384.1:p.Leu352Phe, XP_047290376.1:p.Leu352Ile, XP_047290376.1:p.Leu352Val, XP_047290376.1:p.Leu352Phe, XP_047290383.1:p.Leu352Ile, XP_047290383.1:p.Leu352Val, XP_047290383.1:p.Leu352Phe, XP_047290375.1:p.Leu352Ile, XP_047290375.1:p.Leu352Val, XP_047290375.1:p.Leu352Phe, XP_047290378.1:p.Leu352Ile, XP_047290378.1:p.Leu352Val, XP_047290378.1:p.Leu352Phe, XP_047290388.1:p.Leu352Ile, XP_047290388.1:p.Leu352Val, XP_047290388.1:p.Leu352Phe, XP_047290379.1:p.Leu352Ile, XP_047290379.1:p.Leu352Val, XP_047290379.1:p.Leu352Phe, XP_047290397.1:p.Leu315Ile, XP_047290397.1:p.Leu315Val, XP_047290397.1:p.Leu315Phe, XP_047290377.1:p.Leu352Ile, XP_047290377.1:p.Leu352Val, XP_047290377.1:p.Leu352Phe, XP_047290380.1:p.Leu352Ile, XP_047290380.1:p.Leu352Val, XP_047290380.1:p.Leu352Phe, XP_047290391.1:p.Leu315Ile, XP_047290391.1:p.Leu315Val, XP_047290391.1:p.Leu315Phe, XP_047290382.1:p.Leu352Ile, XP_047290382.1:p.Leu352Val, XP_047290382.1:p.Leu352Phe, XP_047290390.1:p.Leu315Ile, XP_047290390.1:p.Leu315Val, XP_047290390.1:p.Leu315Phe, XP_047290385.1:p.Leu352Ile, XP_047290385.1:p.Leu352Val, XP_047290385.1:p.Leu352Phe, XP_047290394.1:p.Leu315Ile, XP_047290394.1:p.Leu315Val, XP_047290394.1:p.Leu315Phe, XP_047290381.1:p.Leu352Ile, XP_047290381.1:p.Leu352Val, XP_047290381.1:p.Leu352Phe, XP_047290393.1:p.Leu315Ile, XP_047290393.1:p.Leu315Val, XP_047290393.1:p.Leu315Phe, XP_047290392.1:p.Leu315Ile, XP_047290392.1:p.Leu315Val, XP_047290392.1:p.Leu315Phe, XP_047290387.1:p.Leu352Ile, XP_047290387.1:p.Leu352Val, XP_047290387.1:p.Leu352Phe, XP_047290386.1:p.Leu352Ile, XP_047290386.1:p.Leu352Val, XP_047290386.1:p.Leu352Phe, XP_047290395.1:p.Leu315Ile, XP_047290395.1:p.Leu315Val, XP_047290395.1:p.Leu315Phe, XP_047290389.1:p.Leu352Ile, XP_047290389.1:p.Leu352Val, XP_047290389.1:p.Leu352Phe, XP_047290396.1:p.Leu315Ile, XP_047290396.1:p.Leu315Val, XP_047290396.1:p.Leu315Phe

          5.

          rs1485471560 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:20785028 (GRCh38)
            16:20796350 (GRCh37)
            Canonical SPDI:
            NC_000016.10:20785027:C:T
            Gene:
            ACSM3 (Varview), ERI2 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,intron_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.20785028C>T, NC_000016.9:g.20796350C>T, NM_005622.4:c.1064C>T, NM_005622.3:c.1064C>T, XM_011545911.3:c.1175C>T, XM_011545911.2:c.1175C>T, XM_011545911.1:c.1175C>T, XM_017023523.3:c.1064C>T, XM_017023523.2:c.1064C>T, XM_017023523.1:c.1064C>T, NM_202000.3:c.1064C>T, NM_202000.2:c.1064C>T, XM_024450368.2:c.1175C>T, XM_024450368.1:c.1175C>T, XM_024450370.2:c.1064C>T, XM_024450370.1:c.1064C>T, XM_024450367.2:c.1175C>T, XM_024450367.1:c.1175C>T, XM_047434428.1:c.1175C>T, XM_047434420.1:c.1175C>T, XM_047434427.1:c.1175C>T, XM_047434419.1:c.1175C>T, XM_047434422.1:c.1175C>T, XM_047434432.1:c.1175C>T, XM_047434423.1:c.1175C>T, XM_047434441.1:c.1064C>T, XM_047434421.1:c.1175C>T, XM_047434424.1:c.1175C>T, XM_047434435.1:c.1064C>T, XM_047434426.1:c.1175C>T, XM_047434434.1:c.1064C>T, XM_047434429.1:c.1175C>T, XM_047434438.1:c.1064C>T, XM_047434425.1:c.1175C>T, XM_047434437.1:c.1064C>T, XM_047434436.1:c.1064C>T, XM_047434431.1:c.1175C>T, XM_047434430.1:c.1175C>T, XM_047434439.1:c.1064C>T, XM_047434433.1:c.1175C>T, XM_047434440.1:c.1064C>T, NP_005613.2:p.Pro355Leu, XP_011544213.1:p.Pro392Leu, XP_016879012.1:p.Pro355Leu, NP_973729.1:p.Pro355Leu, XP_024306136.1:p.Pro392Leu, XP_024306138.1:p.Pro355Leu, XP_024306135.1:p.Pro392Leu, XP_047290384.1:p.Pro392Leu, XP_047290376.1:p.Pro392Leu, XP_047290383.1:p.Pro392Leu, XP_047290375.1:p.Pro392Leu, XP_047290378.1:p.Pro392Leu, XP_047290388.1:p.Pro392Leu, XP_047290379.1:p.Pro392Leu, XP_047290397.1:p.Pro355Leu, XP_047290377.1:p.Pro392Leu, XP_047290380.1:p.Pro392Leu, XP_047290391.1:p.Pro355Leu, XP_047290382.1:p.Pro392Leu, XP_047290390.1:p.Pro355Leu, XP_047290385.1:p.Pro392Leu, XP_047290394.1:p.Pro355Leu, XP_047290381.1:p.Pro392Leu, XP_047290393.1:p.Pro355Leu, XP_047290392.1:p.Pro355Leu, XP_047290387.1:p.Pro392Leu, XP_047290386.1:p.Pro392Leu, XP_047290395.1:p.Pro355Leu, XP_047290389.1:p.Pro392Leu, XP_047290396.1:p.Pro355Leu

            6.

            rs1477758010 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:20777570 (GRCh38)
              16:20788892 (GRCh37)
              Canonical SPDI:
              NC_000016.10:20777569:G:A
              Gene:
              ACSM3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000016.10:g.20777570G>A, NC_000016.9:g.20788892G>A, NM_005622.4:c.628G>A, NM_005622.3:c.628G>A, XM_011545911.3:c.628G>A, XM_011545911.2:c.628G>A, XM_011545911.1:c.628G>A, XM_017023523.3:c.628G>A, XM_017023523.2:c.628G>A, XM_017023523.1:c.628G>A, NM_202000.3:c.628G>A, NM_202000.2:c.628G>A, XM_024450368.2:c.628G>A, XM_024450368.1:c.628G>A, XM_024450370.2:c.628G>A, XM_024450370.1:c.628G>A, XM_024450367.2:c.628G>A, XM_024450367.1:c.628G>A, XM_047434428.1:c.628G>A, XM_047434420.1:c.628G>A, XM_047434427.1:c.628G>A, XM_047434419.1:c.628G>A, XM_047434422.1:c.628G>A, XM_047434432.1:c.628G>A, XM_047434423.1:c.628G>A, XM_047434441.1:c.628G>A, XM_047434421.1:c.628G>A, XM_047434424.1:c.628G>A, XM_047434435.1:c.628G>A, XM_047434426.1:c.628G>A, XM_047434434.1:c.628G>A, XM_047434429.1:c.628G>A, XM_047434438.1:c.628G>A, XM_047434425.1:c.628G>A, XM_047434437.1:c.628G>A, XM_047434436.1:c.628G>A, XM_047434431.1:c.628G>A, XM_047434430.1:c.628G>A, XM_047434439.1:c.628G>A, XM_047434433.1:c.628G>A, XM_047434440.1:c.628G>A, NP_005613.2:p.Glu210Lys, XP_011544213.1:p.Glu210Lys, XP_016879012.1:p.Glu210Lys, NP_973729.1:p.Glu210Lys, XP_024306136.1:p.Glu210Lys, XP_024306138.1:p.Glu210Lys, XP_024306135.1:p.Glu210Lys, XP_047290384.1:p.Glu210Lys, XP_047290376.1:p.Glu210Lys, XP_047290383.1:p.Glu210Lys, XP_047290375.1:p.Glu210Lys, XP_047290378.1:p.Glu210Lys, XP_047290388.1:p.Glu210Lys, XP_047290379.1:p.Glu210Lys, XP_047290397.1:p.Glu210Lys, XP_047290377.1:p.Glu210Lys, XP_047290380.1:p.Glu210Lys, XP_047290391.1:p.Glu210Lys, XP_047290382.1:p.Glu210Lys, XP_047290390.1:p.Glu210Lys, XP_047290385.1:p.Glu210Lys, XP_047290394.1:p.Glu210Lys, XP_047290381.1:p.Glu210Lys, XP_047290393.1:p.Glu210Lys, XP_047290392.1:p.Glu210Lys, XP_047290387.1:p.Glu210Lys, XP_047290386.1:p.Glu210Lys, XP_047290395.1:p.Glu210Lys, XP_047290389.1:p.Glu210Lys, XP_047290396.1:p.Glu210Lys

              7.

              rs1475075727 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                16:20770187 (GRCh38)
                16:20781509 (GRCh37)
                Canonical SPDI:
                NC_000016.10:20770186:A:T
                Gene:
                ACSM3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                HGVS:
                NC_000016.10:g.20770187A>T, NC_000016.9:g.20781509A>T, NM_005622.4:c.153A>T, NM_005622.3:c.153A>T, XM_011545911.3:c.153A>T, XM_011545911.2:c.153A>T, XM_011545911.1:c.153A>T, XM_017023523.3:c.153A>T, XM_017023523.2:c.153A>T, XM_017023523.1:c.153A>T, NM_202000.3:c.153A>T, NM_202000.2:c.153A>T, XM_024450368.2:c.153A>T, XM_024450368.1:c.153A>T, XM_024450370.2:c.153A>T, XM_024450370.1:c.153A>T, XM_024450367.2:c.153A>T, XM_024450367.1:c.153A>T, XM_047434428.1:c.153A>T, XM_047434420.1:c.153A>T, XM_047434427.1:c.153A>T, XM_047434419.1:c.153A>T, XM_047434422.1:c.153A>T, XM_047434432.1:c.153A>T, XM_047434423.1:c.153A>T, XM_047434441.1:c.153A>T, XM_047434421.1:c.153A>T, XM_047434424.1:c.153A>T, XM_047434435.1:c.153A>T, XM_047434426.1:c.153A>T, XM_047434434.1:c.153A>T, XM_047434429.1:c.153A>T, XM_047434438.1:c.153A>T, XM_047434425.1:c.153A>T, XM_047434437.1:c.153A>T, XM_047434436.1:c.153A>T, XM_047434431.1:c.153A>T, XM_047434430.1:c.153A>T, XM_047434439.1:c.153A>T, XM_047434433.1:c.153A>T, XM_047434440.1:c.153A>T, NP_005613.2:p.Lys51Asn, XP_011544213.1:p.Lys51Asn, XP_016879012.1:p.Lys51Asn, NP_973729.1:p.Lys51Asn, XP_024306136.1:p.Lys51Asn, XP_024306138.1:p.Lys51Asn, XP_024306135.1:p.Lys51Asn, XP_047290384.1:p.Lys51Asn, XP_047290376.1:p.Lys51Asn, XP_047290383.1:p.Lys51Asn, XP_047290375.1:p.Lys51Asn, XP_047290378.1:p.Lys51Asn, XP_047290388.1:p.Lys51Asn, XP_047290379.1:p.Lys51Asn, XP_047290397.1:p.Lys51Asn, XP_047290377.1:p.Lys51Asn, XP_047290380.1:p.Lys51Asn, XP_047290391.1:p.Lys51Asn, XP_047290382.1:p.Lys51Asn, XP_047290390.1:p.Lys51Asn, XP_047290385.1:p.Lys51Asn, XP_047290394.1:p.Lys51Asn, XP_047290381.1:p.Lys51Asn, XP_047290393.1:p.Lys51Asn, XP_047290392.1:p.Lys51Asn, XP_047290387.1:p.Lys51Asn, XP_047290386.1:p.Lys51Asn, XP_047290395.1:p.Lys51Asn, XP_047290389.1:p.Lys51Asn, XP_047290396.1:p.Lys51Asn

                8.

                rs1473549126 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  16:20781757 (GRCh38)
                  16:20793079 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:20781756:A:C
                  Gene:
                  ACSM3 (Varview), ERI2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_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.20781757A>C, NC_000016.9:g.20793079A>C, NM_005622.4:c.989A>C, NM_005622.3:c.989A>C, XM_011545911.3:c.1100A>C, XM_011545911.2:c.1100A>C, XM_011545911.1:c.1100A>C, XM_017023523.3:c.989A>C, XM_017023523.2:c.989A>C, XM_017023523.1:c.989A>C, NM_202000.3:c.989A>C, NM_202000.2:c.989A>C, XM_024450368.2:c.1100A>C, XM_024450368.1:c.1100A>C, XM_024450370.2:c.989A>C, XM_024450370.1:c.989A>C, XM_024450367.2:c.1100A>C, XM_024450367.1:c.1100A>C, XM_047434428.1:c.1100A>C, XM_047434420.1:c.1100A>C, XM_047434427.1:c.1100A>C, XM_047434419.1:c.1100A>C, XM_047434422.1:c.1100A>C, XM_047434432.1:c.1100A>C, XM_047434423.1:c.1100A>C, XM_047434441.1:c.989A>C, XM_047434421.1:c.1100A>C, XM_047434424.1:c.1100A>C, XM_047434435.1:c.989A>C, XM_047434426.1:c.1100A>C, XM_047434434.1:c.989A>C, XM_047434429.1:c.1100A>C, XM_047434438.1:c.989A>C, XM_047434425.1:c.1100A>C, XM_047434437.1:c.989A>C, XM_047434436.1:c.989A>C, XM_047434431.1:c.1100A>C, XM_047434430.1:c.1100A>C, XM_047434439.1:c.989A>C, XM_047434433.1:c.1100A>C, XM_047434440.1:c.989A>C, NP_005613.2:p.Tyr330Ser, XP_011544213.1:p.Tyr367Ser, XP_016879012.1:p.Tyr330Ser, NP_973729.1:p.Tyr330Ser, XP_024306136.1:p.Tyr367Ser, XP_024306138.1:p.Tyr330Ser, XP_024306135.1:p.Tyr367Ser, XP_047290384.1:p.Tyr367Ser, XP_047290376.1:p.Tyr367Ser, XP_047290383.1:p.Tyr367Ser, XP_047290375.1:p.Tyr367Ser, XP_047290378.1:p.Tyr367Ser, XP_047290388.1:p.Tyr367Ser, XP_047290379.1:p.Tyr367Ser, XP_047290397.1:p.Tyr330Ser, XP_047290377.1:p.Tyr367Ser, XP_047290380.1:p.Tyr367Ser, XP_047290391.1:p.Tyr330Ser, XP_047290382.1:p.Tyr367Ser, XP_047290390.1:p.Tyr330Ser, XP_047290385.1:p.Tyr367Ser, XP_047290394.1:p.Tyr330Ser, XP_047290381.1:p.Tyr367Ser, XP_047290393.1:p.Tyr330Ser, XP_047290392.1:p.Tyr330Ser, XP_047290387.1:p.Tyr367Ser, XP_047290386.1:p.Tyr367Ser, XP_047290395.1:p.Tyr330Ser, XP_047290389.1:p.Tyr367Ser, XP_047290396.1:p.Tyr330Ser

                  9.

                  rs1468581748 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:20770051 (GRCh38)
                    16:20781373 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:20770050:C:T
                    Gene:
                    ACSM3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000016.10:g.20770051C>T, NC_000016.9:g.20781373C>T, NM_005622.4:c.17C>T, NM_005622.3:c.17C>T, XM_011545911.3:c.17C>T, XM_011545911.2:c.17C>T, XM_011545911.1:c.17C>T, XM_017023523.3:c.17C>T, XM_017023523.2:c.17C>T, XM_017023523.1:c.17C>T, NM_202000.3:c.17C>T, NM_202000.2:c.17C>T, XM_024450368.2:c.17C>T, XM_024450368.1:c.17C>T, XM_024450370.2:c.17C>T, XM_024450370.1:c.17C>T, XM_024450367.2:c.17C>T, XM_024450367.1:c.17C>T, XM_047434428.1:c.17C>T, XM_047434420.1:c.17C>T, XM_047434427.1:c.17C>T, XM_047434419.1:c.17C>T, XM_047434422.1:c.17C>T, XM_047434432.1:c.17C>T, XM_047434423.1:c.17C>T, XM_047434441.1:c.17C>T, XM_047434421.1:c.17C>T, XM_047434424.1:c.17C>T, XM_047434435.1:c.17C>T, XM_047434426.1:c.17C>T, XM_047434434.1:c.17C>T, XM_047434429.1:c.17C>T, XM_047434438.1:c.17C>T, XM_047434425.1:c.17C>T, XM_047434437.1:c.17C>T, XM_047434436.1:c.17C>T, XM_047434431.1:c.17C>T, XM_047434430.1:c.17C>T, XM_047434439.1:c.17C>T, XM_047434433.1:c.17C>T, XM_047434440.1:c.17C>T, NP_005613.2:p.Thr6Ile, XP_011544213.1:p.Thr6Ile, XP_016879012.1:p.Thr6Ile, NP_973729.1:p.Thr6Ile, XP_024306136.1:p.Thr6Ile, XP_024306138.1:p.Thr6Ile, XP_024306135.1:p.Thr6Ile, XP_047290384.1:p.Thr6Ile, XP_047290376.1:p.Thr6Ile, XP_047290383.1:p.Thr6Ile, XP_047290375.1:p.Thr6Ile, XP_047290378.1:p.Thr6Ile, XP_047290388.1:p.Thr6Ile, XP_047290379.1:p.Thr6Ile, XP_047290397.1:p.Thr6Ile, XP_047290377.1:p.Thr6Ile, XP_047290380.1:p.Thr6Ile, XP_047290391.1:p.Thr6Ile, XP_047290382.1:p.Thr6Ile, XP_047290390.1:p.Thr6Ile, XP_047290385.1:p.Thr6Ile, XP_047290394.1:p.Thr6Ile, XP_047290381.1:p.Thr6Ile, XP_047290393.1:p.Thr6Ile, XP_047290392.1:p.Thr6Ile, XP_047290387.1:p.Thr6Ile, XP_047290386.1:p.Thr6Ile, XP_047290395.1:p.Thr6Ile, XP_047290389.1:p.Thr6Ile, XP_047290396.1:p.Thr6Ile

                    10.

                    rs1468166195 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      16:20786192 (GRCh38)
                      16:20797514 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:20786191:A:C,NC_000016.10:20786191:A:G
                      Gene:
                      ACSM3 (Varview), ERI2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1466331549 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:20776018 (GRCh38)
                        16:20787340 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:20776017:G:A
                        Gene:
                        ACSM3 (Varview)
                        Functional Consequence:
                        stop_gained,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.20776018G>A, NC_000016.9:g.20787340G>A, NM_005622.4:c.399G>A, NM_005622.3:c.399G>A, XM_011545911.3:c.399G>A, XM_011545911.2:c.399G>A, XM_011545911.1:c.399G>A, XM_017023523.3:c.399G>A, XM_017023523.2:c.399G>A, XM_017023523.1:c.399G>A, NM_202000.3:c.399G>A, NM_202000.2:c.399G>A, XM_024450368.2:c.399G>A, XM_024450368.1:c.399G>A, XM_024450370.2:c.399G>A, XM_024450370.1:c.399G>A, XM_024450367.2:c.399G>A, XM_024450367.1:c.399G>A, XM_047434428.1:c.399G>A, XM_047434420.1:c.399G>A, XM_047434427.1:c.399G>A, XM_047434419.1:c.399G>A, XM_047434422.1:c.399G>A, XM_047434432.1:c.399G>A, XM_047434423.1:c.399G>A, XM_047434441.1:c.399G>A, XM_047434421.1:c.399G>A, XM_047434424.1:c.399G>A, XM_047434435.1:c.399G>A, XM_047434426.1:c.399G>A, XM_047434434.1:c.399G>A, XM_047434429.1:c.399G>A, XM_047434438.1:c.399G>A, XM_047434425.1:c.399G>A, XM_047434437.1:c.399G>A, XM_047434436.1:c.399G>A, XM_047434431.1:c.399G>A, XM_047434430.1:c.399G>A, XM_047434439.1:c.399G>A, XM_047434433.1:c.399G>A, XM_047434440.1:c.399G>A, NP_005613.2:p.Trp133Ter, XP_011544213.1:p.Trp133Ter, XP_016879012.1:p.Trp133Ter, NP_973729.1:p.Trp133Ter, XP_024306136.1:p.Trp133Ter, XP_024306138.1:p.Trp133Ter, XP_024306135.1:p.Trp133Ter, XP_047290384.1:p.Trp133Ter, XP_047290376.1:p.Trp133Ter, XP_047290383.1:p.Trp133Ter, XP_047290375.1:p.Trp133Ter, XP_047290378.1:p.Trp133Ter, XP_047290388.1:p.Trp133Ter, XP_047290379.1:p.Trp133Ter, XP_047290397.1:p.Trp133Ter, XP_047290377.1:p.Trp133Ter, XP_047290380.1:p.Trp133Ter, XP_047290391.1:p.Trp133Ter, XP_047290382.1:p.Trp133Ter, XP_047290390.1:p.Trp133Ter, XP_047290385.1:p.Trp133Ter, XP_047290394.1:p.Trp133Ter, XP_047290381.1:p.Trp133Ter, XP_047290393.1:p.Trp133Ter, XP_047290392.1:p.Trp133Ter, XP_047290387.1:p.Trp133Ter, XP_047290386.1:p.Trp133Ter, XP_047290395.1:p.Trp133Ter, XP_047290389.1:p.Trp133Ter, XP_047290396.1:p.Trp133Ter

                        12.

                        rs1465574328 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:20775880 (GRCh38)
                          16:20787202 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:20775879:C:T
                          Gene:
                          ACSM3 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000016.10:g.20775880C>T, NC_000016.9:g.20787202C>T, NM_005622.4:c.261C>T, NM_005622.3:c.261C>T, XM_011545911.3:c.261C>T, XM_011545911.2:c.261C>T, XM_011545911.1:c.261C>T, XM_017023523.3:c.261C>T, XM_017023523.2:c.261C>T, XM_017023523.1:c.261C>T, NM_202000.3:c.261C>T, NM_202000.2:c.261C>T, XM_024450368.2:c.261C>T, XM_024450368.1:c.261C>T, XM_024450370.2:c.261C>T, XM_024450370.1:c.261C>T, XM_024450367.2:c.261C>T, XM_024450367.1:c.261C>T, XM_047434428.1:c.261C>T, XM_047434420.1:c.261C>T, XM_047434427.1:c.261C>T, XM_047434419.1:c.261C>T, XM_047434422.1:c.261C>T, XM_047434432.1:c.261C>T, XM_047434423.1:c.261C>T, XM_047434441.1:c.261C>T, XM_047434421.1:c.261C>T, XM_047434424.1:c.261C>T, XM_047434435.1:c.261C>T, XM_047434426.1:c.261C>T, XM_047434434.1:c.261C>T, XM_047434429.1:c.261C>T, XM_047434438.1:c.261C>T, XM_047434425.1:c.261C>T, XM_047434437.1:c.261C>T, XM_047434436.1:c.261C>T, XM_047434431.1:c.261C>T, XM_047434430.1:c.261C>T, XM_047434439.1:c.261C>T, XM_047434433.1:c.261C>T, XM_047434440.1:c.261C>T

                          13.

                          rs1465534976 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            16:20785048 (GRCh38)
                            16:20796370 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:20785047:G:A,NC_000016.10:20785047:G:C
                            Gene:
                            ACSM3 (Varview), ERI2 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            NC_000016.10:g.20785048G>A, NC_000016.10:g.20785048G>C, NC_000016.9:g.20796370G>A, NC_000016.9:g.20796370G>C, NM_005622.4:c.1084G>A, NM_005622.4:c.1084G>C, NM_005622.3:c.1084G>A, NM_005622.3:c.1084G>C, XM_011545911.3:c.1195G>A, XM_011545911.3:c.1195G>C, XM_011545911.2:c.1195G>A, XM_011545911.2:c.1195G>C, XM_011545911.1:c.1195G>A, XM_011545911.1:c.1195G>C, XM_017023523.3:c.1084G>A, XM_017023523.3:c.1084G>C, XM_017023523.2:c.1084G>A, XM_017023523.2:c.1084G>C, XM_017023523.1:c.1084G>A, XM_017023523.1:c.1084G>C, NM_202000.3:c.1084G>A, NM_202000.3:c.1084G>C, NM_202000.2:c.1084G>A, NM_202000.2:c.1084G>C, XM_024450368.2:c.1195G>A, XM_024450368.2:c.1195G>C, XM_024450368.1:c.1195G>A, XM_024450368.1:c.1195G>C, XM_024450370.2:c.1084G>A, XM_024450370.2:c.1084G>C, XM_024450370.1:c.1084G>A, XM_024450370.1:c.1084G>C, XM_024450367.2:c.1195G>A, XM_024450367.2:c.1195G>C, XM_024450367.1:c.1195G>A, XM_024450367.1:c.1195G>C, XM_047434428.1:c.1195G>A, XM_047434428.1:c.1195G>C, XM_047434420.1:c.1195G>A, XM_047434420.1:c.1195G>C, XM_047434427.1:c.1195G>A, XM_047434427.1:c.1195G>C, XM_047434419.1:c.1195G>A, XM_047434419.1:c.1195G>C, XM_047434422.1:c.1195G>A, XM_047434422.1:c.1195G>C, XM_047434432.1:c.1195G>A, XM_047434432.1:c.1195G>C, XM_047434423.1:c.1195G>A, XM_047434423.1:c.1195G>C, XM_047434441.1:c.1084G>A, XM_047434441.1:c.1084G>C, XM_047434421.1:c.1195G>A, XM_047434421.1:c.1195G>C, XM_047434424.1:c.1195G>A, XM_047434424.1:c.1195G>C, XM_047434435.1:c.1084G>A, XM_047434435.1:c.1084G>C, XM_047434426.1:c.1195G>A, XM_047434426.1:c.1195G>C, XM_047434434.1:c.1084G>A, XM_047434434.1:c.1084G>C, XM_047434429.1:c.1195G>A, XM_047434429.1:c.1195G>C, XM_047434438.1:c.1084G>A, XM_047434438.1:c.1084G>C, XM_047434425.1:c.1195G>A, XM_047434425.1:c.1195G>C, XM_047434437.1:c.1084G>A, XM_047434437.1:c.1084G>C, XM_047434436.1:c.1084G>A, XM_047434436.1:c.1084G>C, XM_047434431.1:c.1195G>A, XM_047434431.1:c.1195G>C, XM_047434430.1:c.1195G>A, XM_047434430.1:c.1195G>C, XM_047434439.1:c.1084G>A, XM_047434439.1:c.1084G>C, XM_047434433.1:c.1195G>A, XM_047434433.1:c.1195G>C, XM_047434440.1:c.1084G>A, XM_047434440.1:c.1084G>C, NP_005613.2:p.Glu362Lys, NP_005613.2:p.Glu362Gln, XP_011544213.1:p.Glu399Lys, XP_011544213.1:p.Glu399Gln, XP_016879012.1:p.Glu362Lys, XP_016879012.1:p.Glu362Gln, NP_973729.1:p.Glu362Lys, NP_973729.1:p.Glu362Gln, XP_024306136.1:p.Glu399Lys, XP_024306136.1:p.Glu399Gln, XP_024306138.1:p.Glu362Lys, XP_024306138.1:p.Glu362Gln, XP_024306135.1:p.Glu399Lys, XP_024306135.1:p.Glu399Gln, XP_047290384.1:p.Glu399Lys, XP_047290384.1:p.Glu399Gln, XP_047290376.1:p.Glu399Lys, XP_047290376.1:p.Glu399Gln, XP_047290383.1:p.Glu399Lys, XP_047290383.1:p.Glu399Gln, XP_047290375.1:p.Glu399Lys, XP_047290375.1:p.Glu399Gln, XP_047290378.1:p.Glu399Lys, XP_047290378.1:p.Glu399Gln, XP_047290388.1:p.Glu399Lys, XP_047290388.1:p.Glu399Gln, XP_047290379.1:p.Glu399Lys, XP_047290379.1:p.Glu399Gln, XP_047290397.1:p.Glu362Lys, XP_047290397.1:p.Glu362Gln, XP_047290377.1:p.Glu399Lys, XP_047290377.1:p.Glu399Gln, XP_047290380.1:p.Glu399Lys, XP_047290380.1:p.Glu399Gln, XP_047290391.1:p.Glu362Lys, XP_047290391.1:p.Glu362Gln, XP_047290382.1:p.Glu399Lys, XP_047290382.1:p.Glu399Gln, XP_047290390.1:p.Glu362Lys, XP_047290390.1:p.Glu362Gln, XP_047290385.1:p.Glu399Lys, XP_047290385.1:p.Glu399Gln, XP_047290394.1:p.Glu362Lys, XP_047290394.1:p.Glu362Gln, XP_047290381.1:p.Glu399Lys, XP_047290381.1:p.Glu399Gln, XP_047290393.1:p.Glu362Lys, XP_047290393.1:p.Glu362Gln, XP_047290392.1:p.Glu362Lys, XP_047290392.1:p.Glu362Gln, XP_047290387.1:p.Glu399Lys, XP_047290387.1:p.Glu399Gln, XP_047290386.1:p.Glu399Lys, XP_047290386.1:p.Glu399Gln, XP_047290395.1:p.Glu362Lys, XP_047290395.1:p.Glu362Gln, XP_047290389.1:p.Glu399Lys, XP_047290389.1:p.Glu399Gln, XP_047290396.1:p.Glu362Lys, XP_047290396.1:p.Glu362Gln

                            14.

                            rs1465447433 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:20777491 (GRCh38)
                              16:20788813 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:20777490:T:C
                              Gene:
                              ACSM3 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000016.10:g.20777491T>C, NC_000016.9:g.20788813T>C, NM_005622.4:c.549T>C, NM_005622.3:c.549T>C, XM_011545911.3:c.549T>C, XM_011545911.2:c.549T>C, XM_011545911.1:c.549T>C, XM_017023523.3:c.549T>C, XM_017023523.2:c.549T>C, XM_017023523.1:c.549T>C, NM_202000.3:c.549T>C, NM_202000.2:c.549T>C, XM_024450368.2:c.549T>C, XM_024450368.1:c.549T>C, XM_024450370.2:c.549T>C, XM_024450370.1:c.549T>C, XM_024450367.2:c.549T>C, XM_024450367.1:c.549T>C, XM_047434428.1:c.549T>C, XM_047434420.1:c.549T>C, XM_047434427.1:c.549T>C, XM_047434419.1:c.549T>C, XM_047434422.1:c.549T>C, XM_047434432.1:c.549T>C, XM_047434423.1:c.549T>C, XM_047434441.1:c.549T>C, XM_047434421.1:c.549T>C, XM_047434424.1:c.549T>C, XM_047434435.1:c.549T>C, XM_047434426.1:c.549T>C, XM_047434434.1:c.549T>C, XM_047434429.1:c.549T>C, XM_047434438.1:c.549T>C, XM_047434425.1:c.549T>C, XM_047434437.1:c.549T>C, XM_047434436.1:c.549T>C, XM_047434431.1:c.549T>C, XM_047434430.1:c.549T>C, XM_047434439.1:c.549T>C, XM_047434433.1:c.549T>C, XM_047434440.1:c.549T>C

                              15.

                              rs1462300734 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                16:20781090 (GRCh38)
                                16:20792412 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:20781089:C:A,NC_000016.10:20781089:C:T
                                Gene:
                                ACSM3 (Varview), ERI2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000016.10:g.20781090C>A, NC_000016.10:g.20781090C>T, NC_000016.9:g.20792412C>A, NC_000016.9:g.20792412C>T, NM_005622.4:c.899C>A, NM_005622.4:c.899C>T, NM_005622.3:c.899C>A, NM_005622.3:c.899C>T, XM_011545911.3:c.1010C>A, XM_011545911.3:c.1010C>T, XM_011545911.2:c.1010C>A, XM_011545911.2:c.1010C>T, XM_011545911.1:c.1010C>A, XM_011545911.1:c.1010C>T, XM_017023523.3:c.899C>A, XM_017023523.3:c.899C>T, XM_017023523.2:c.899C>A, XM_017023523.2:c.899C>T, XM_017023523.1:c.899C>A, XM_017023523.1:c.899C>T, NM_202000.3:c.899C>A, NM_202000.3:c.899C>T, NM_202000.2:c.899C>A, NM_202000.2:c.899C>T, XM_024450368.2:c.1010C>A, XM_024450368.2:c.1010C>T, XM_024450368.1:c.1010C>A, XM_024450368.1:c.1010C>T, XM_024450370.2:c.899C>A, XM_024450370.2:c.899C>T, XM_024450370.1:c.899C>A, XM_024450370.1:c.899C>T, XM_024450367.2:c.1010C>A, XM_024450367.2:c.1010C>T, XM_024450367.1:c.1010C>A, XM_024450367.1:c.1010C>T, XM_047434428.1:c.1010C>A, XM_047434428.1:c.1010C>T, XM_047434420.1:c.1010C>A, XM_047434420.1:c.1010C>T, XM_047434427.1:c.1010C>A, XM_047434427.1:c.1010C>T, XM_047434419.1:c.1010C>A, XM_047434419.1:c.1010C>T, XM_047434422.1:c.1010C>A, XM_047434422.1:c.1010C>T, XM_047434432.1:c.1010C>A, XM_047434432.1:c.1010C>T, XM_047434423.1:c.1010C>A, XM_047434423.1:c.1010C>T, XM_047434441.1:c.899C>A, XM_047434441.1:c.899C>T, XM_047434421.1:c.1010C>A, XM_047434421.1:c.1010C>T, XM_047434424.1:c.1010C>A, XM_047434424.1:c.1010C>T, XM_047434435.1:c.899C>A, XM_047434435.1:c.899C>T, XM_047434426.1:c.1010C>A, XM_047434426.1:c.1010C>T, XM_047434434.1:c.899C>A, XM_047434434.1:c.899C>T, XM_047434429.1:c.1010C>A, XM_047434429.1:c.1010C>T, XM_047434438.1:c.899C>A, XM_047434438.1:c.899C>T, XM_047434425.1:c.1010C>A, XM_047434425.1:c.1010C>T, XM_047434437.1:c.899C>A, XM_047434437.1:c.899C>T, XM_047434436.1:c.899C>A, XM_047434436.1:c.899C>T, XM_047434431.1:c.1010C>A, XM_047434431.1:c.1010C>T, XM_047434430.1:c.1010C>A, XM_047434430.1:c.1010C>T, XM_047434439.1:c.899C>A, XM_047434439.1:c.899C>T, XM_047434433.1:c.1010C>A, XM_047434433.1:c.1010C>T, XM_047434440.1:c.899C>A, XM_047434440.1:c.899C>T, NP_005613.2:p.Thr300Lys, NP_005613.2:p.Thr300Ile, XP_011544213.1:p.Thr337Lys, XP_011544213.1:p.Thr337Ile, XP_016879012.1:p.Thr300Lys, XP_016879012.1:p.Thr300Ile, NP_973729.1:p.Thr300Lys, NP_973729.1:p.Thr300Ile, XP_024306136.1:p.Thr337Lys, XP_024306136.1:p.Thr337Ile, XP_024306138.1:p.Thr300Lys, XP_024306138.1:p.Thr300Ile, XP_024306135.1:p.Thr337Lys, XP_024306135.1:p.Thr337Ile, XP_047290384.1:p.Thr337Lys, XP_047290384.1:p.Thr337Ile, XP_047290376.1:p.Thr337Lys, XP_047290376.1:p.Thr337Ile, XP_047290383.1:p.Thr337Lys, XP_047290383.1:p.Thr337Ile, XP_047290375.1:p.Thr337Lys, XP_047290375.1:p.Thr337Ile, XP_047290378.1:p.Thr337Lys, XP_047290378.1:p.Thr337Ile, XP_047290388.1:p.Thr337Lys, XP_047290388.1:p.Thr337Ile, XP_047290379.1:p.Thr337Lys, XP_047290379.1:p.Thr337Ile, XP_047290397.1:p.Thr300Lys, XP_047290397.1:p.Thr300Ile, XP_047290377.1:p.Thr337Lys, XP_047290377.1:p.Thr337Ile, XP_047290380.1:p.Thr337Lys, XP_047290380.1:p.Thr337Ile, XP_047290391.1:p.Thr300Lys, XP_047290391.1:p.Thr300Ile, XP_047290382.1:p.Thr337Lys, XP_047290382.1:p.Thr337Ile, XP_047290390.1:p.Thr300Lys, XP_047290390.1:p.Thr300Ile, XP_047290385.1:p.Thr337Lys, XP_047290385.1:p.Thr337Ile, XP_047290394.1:p.Thr300Lys, XP_047290394.1:p.Thr300Ile, XP_047290381.1:p.Thr337Lys, XP_047290381.1:p.Thr337Ile, XP_047290393.1:p.Thr300Lys, XP_047290393.1:p.Thr300Ile, XP_047290392.1:p.Thr300Lys, XP_047290392.1:p.Thr300Ile, XP_047290387.1:p.Thr337Lys, XP_047290387.1:p.Thr337Ile, XP_047290386.1:p.Thr337Lys, XP_047290386.1:p.Thr337Ile, XP_047290395.1:p.Thr300Lys, XP_047290395.1:p.Thr300Ile, XP_047290389.1:p.Thr337Lys, XP_047290389.1:p.Thr337Ile, XP_047290396.1:p.Thr300Lys, XP_047290396.1:p.Thr300Ile

                                16.

                                rs1460734598 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  16:20785012 (GRCh38)
                                  16:20796334 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:20785011:G:T
                                  Gene:
                                  ACSM3 (Varview), ERI2 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000016.10:g.20785012G>T, NC_000016.9:g.20796334G>T, NM_005622.4:c.1048G>T, NM_005622.3:c.1048G>T, XM_011545911.3:c.1159G>T, XM_011545911.2:c.1159G>T, XM_011545911.1:c.1159G>T, XM_017023523.3:c.1048G>T, XM_017023523.2:c.1048G>T, XM_017023523.1:c.1048G>T, NM_202000.3:c.1048G>T, NM_202000.2:c.1048G>T, XM_024450368.2:c.1159G>T, XM_024450368.1:c.1159G>T, XM_024450370.2:c.1048G>T, XM_024450370.1:c.1048G>T, XM_024450367.2:c.1159G>T, XM_024450367.1:c.1159G>T, XM_047434428.1:c.1159G>T, XM_047434420.1:c.1159G>T, XM_047434427.1:c.1159G>T, XM_047434419.1:c.1159G>T, XM_047434422.1:c.1159G>T, XM_047434432.1:c.1159G>T, XM_047434423.1:c.1159G>T, XM_047434441.1:c.1048G>T, XM_047434421.1:c.1159G>T, XM_047434424.1:c.1159G>T, XM_047434435.1:c.1048G>T, XM_047434426.1:c.1159G>T, XM_047434434.1:c.1048G>T, XM_047434429.1:c.1159G>T, XM_047434438.1:c.1048G>T, XM_047434425.1:c.1159G>T, XM_047434437.1:c.1048G>T, XM_047434436.1:c.1048G>T, XM_047434431.1:c.1159G>T, XM_047434430.1:c.1159G>T, XM_047434439.1:c.1048G>T, XM_047434433.1:c.1159G>T, XM_047434440.1:c.1048G>T, NP_005613.2:p.Val350Leu, XP_011544213.1:p.Val387Leu, XP_016879012.1:p.Val350Leu, NP_973729.1:p.Val350Leu, XP_024306136.1:p.Val387Leu, XP_024306138.1:p.Val350Leu, XP_024306135.1:p.Val387Leu, XP_047290384.1:p.Val387Leu, XP_047290376.1:p.Val387Leu, XP_047290383.1:p.Val387Leu, XP_047290375.1:p.Val387Leu, XP_047290378.1:p.Val387Leu, XP_047290388.1:p.Val387Leu, XP_047290379.1:p.Val387Leu, XP_047290397.1:p.Val350Leu, XP_047290377.1:p.Val387Leu, XP_047290380.1:p.Val387Leu, XP_047290391.1:p.Val350Leu, XP_047290382.1:p.Val387Leu, XP_047290390.1:p.Val350Leu, XP_047290385.1:p.Val387Leu, XP_047290394.1:p.Val350Leu, XP_047290381.1:p.Val387Leu, XP_047290393.1:p.Val350Leu, XP_047290392.1:p.Val350Leu, XP_047290387.1:p.Val387Leu, XP_047290386.1:p.Val387Leu, XP_047290395.1:p.Val350Leu, XP_047290389.1:p.Val387Leu, XP_047290396.1:p.Val350Leu

                                  17.

                                  rs1459970056 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    16:20780996 (GRCh38)
                                    16:20792318 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:20780995:T:G
                                    Gene:
                                    ACSM3 (Varview), ERI2 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000016.10:g.20780996T>G, NC_000016.9:g.20792318T>G, NM_005622.4:c.805T>G, NM_005622.3:c.805T>G, XM_011545911.3:c.916T>G, XM_011545911.2:c.916T>G, XM_011545911.1:c.916T>G, XM_017023523.3:c.805T>G, XM_017023523.2:c.805T>G, XM_017023523.1:c.805T>G, NM_202000.3:c.805T>G, NM_202000.2:c.805T>G, XM_024450368.2:c.916T>G, XM_024450368.1:c.916T>G, XM_024450370.2:c.805T>G, XM_024450370.1:c.805T>G, XM_024450367.2:c.916T>G, XM_024450367.1:c.916T>G, XM_047434428.1:c.916T>G, XM_047434420.1:c.916T>G, XM_047434427.1:c.916T>G, XM_047434419.1:c.916T>G, XM_047434422.1:c.916T>G, XM_047434432.1:c.916T>G, XM_047434423.1:c.916T>G, XM_047434441.1:c.805T>G, XM_047434421.1:c.916T>G, XM_047434424.1:c.916T>G, XM_047434435.1:c.805T>G, XM_047434426.1:c.916T>G, XM_047434434.1:c.805T>G, XM_047434429.1:c.916T>G, XM_047434438.1:c.805T>G, XM_047434425.1:c.916T>G, XM_047434437.1:c.805T>G, XM_047434436.1:c.805T>G, XM_047434431.1:c.916T>G, XM_047434430.1:c.916T>G, XM_047434439.1:c.805T>G, XM_047434433.1:c.916T>G, XM_047434440.1:c.805T>G, NP_005613.2:p.Ser269Ala, XP_011544213.1:p.Ser306Ala, XP_016879012.1:p.Ser269Ala, NP_973729.1:p.Ser269Ala, XP_024306136.1:p.Ser306Ala, XP_024306138.1:p.Ser269Ala, XP_024306135.1:p.Ser306Ala, XP_047290384.1:p.Ser306Ala, XP_047290376.1:p.Ser306Ala, XP_047290383.1:p.Ser306Ala, XP_047290375.1:p.Ser306Ala, XP_047290378.1:p.Ser306Ala, XP_047290388.1:p.Ser306Ala, XP_047290379.1:p.Ser306Ala, XP_047290397.1:p.Ser269Ala, XP_047290377.1:p.Ser306Ala, XP_047290380.1:p.Ser306Ala, XP_047290391.1:p.Ser269Ala, XP_047290382.1:p.Ser306Ala, XP_047290390.1:p.Ser269Ala, XP_047290385.1:p.Ser306Ala, XP_047290394.1:p.Ser269Ala, XP_047290381.1:p.Ser306Ala, XP_047290393.1:p.Ser269Ala, XP_047290392.1:p.Ser269Ala, XP_047290387.1:p.Ser306Ala, XP_047290386.1:p.Ser306Ala, XP_047290395.1:p.Ser269Ala, XP_047290389.1:p.Ser306Ala, XP_047290396.1:p.Ser269Ala

                                    18.

                                    rs1456025484 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:20786247 (GRCh38)
                                      16:20797569 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:20786246:T:C
                                      Gene:
                                      ACSM3 (Varview), ERI2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1455703615 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        16:20786212 (GRCh38)
                                        16:20797534 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:20786211:T:A
                                        Gene:
                                        ACSM3 (Varview), ERI2 (Varview)
                                        Functional Consequence:
                                        intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        HGVS:

                                        20.

                                        rs1453330653 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          16:20780759 (GRCh38)
                                          16:20792081 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:20780758:G:C
                                          Gene:
                                          ACSM3 (Varview), ERI2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.20780759G>C, NC_000016.9:g.20792081G>C, NM_005622.4:c.684G>C, NM_005622.3:c.684G>C, XM_011545911.3:c.795G>C, XM_011545911.2:c.795G>C, XM_011545911.1:c.795G>C, XM_017023523.3:c.684G>C, XM_017023523.2:c.684G>C, XM_017023523.1:c.684G>C, NM_202000.3:c.684G>C, NM_202000.2:c.684G>C, XM_024450368.2:c.795G>C, XM_024450368.1:c.795G>C, XM_024450370.2:c.684G>C, XM_024450370.1:c.684G>C, XM_024450367.2:c.795G>C, XM_024450367.1:c.795G>C, XM_047434428.1:c.795G>C, XM_047434420.1:c.795G>C, XM_047434427.1:c.795G>C, XM_047434419.1:c.795G>C, XM_047434422.1:c.795G>C, XM_047434432.1:c.795G>C, XM_047434423.1:c.795G>C, XM_047434441.1:c.684G>C, XM_047434421.1:c.795G>C, XM_047434424.1:c.795G>C, XM_047434435.1:c.684G>C, XM_047434426.1:c.795G>C, XM_047434434.1:c.684G>C, XM_047434429.1:c.795G>C, XM_047434438.1:c.684G>C, XM_047434425.1:c.795G>C, XM_047434437.1:c.684G>C, XM_047434436.1:c.684G>C, XM_047434431.1:c.795G>C, XM_047434430.1:c.795G>C, XM_047434439.1:c.684G>C, XM_047434433.1:c.795G>C, XM_047434440.1:c.684G>C, NP_005613.2:p.Glu228Asp, XP_011544213.1:p.Glu265Asp, XP_016879012.1:p.Glu228Asp, NP_973729.1:p.Glu228Asp, XP_024306136.1:p.Glu265Asp, XP_024306138.1:p.Glu228Asp, XP_024306135.1:p.Glu265Asp, XP_047290384.1:p.Glu265Asp, XP_047290376.1:p.Glu265Asp, XP_047290383.1:p.Glu265Asp, XP_047290375.1:p.Glu265Asp, XP_047290378.1:p.Glu265Asp, XP_047290388.1:p.Glu265Asp, XP_047290379.1:p.Glu265Asp, XP_047290397.1:p.Glu228Asp, XP_047290377.1:p.Glu265Asp, XP_047290380.1:p.Glu265Asp, XP_047290391.1:p.Glu228Asp, XP_047290382.1:p.Glu265Asp, XP_047290390.1:p.Glu228Asp, XP_047290385.1:p.Glu265Asp, XP_047290394.1:p.Glu228Asp, XP_047290381.1:p.Glu265Asp, XP_047290393.1:p.Glu228Asp, XP_047290392.1:p.Glu228Asp, XP_047290387.1:p.Glu265Asp, XP_047290386.1:p.Glu265Asp, XP_047290395.1:p.Glu228Asp, XP_047290389.1:p.Glu265Asp, XP_047290396.1:p.Glu228Asp

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