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Items: 1 to 20 of 303

1.

rs1489579276 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:144007313 (GRCh38)
    2:144764880 (GRCh37)
    Canonical SPDI:
    NC_000002.12:144007312:T:C
    Gene:
    GTDC1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000002.12:g.144007313T>C, NC_000002.11:g.144764880T>C, NM_024659.6:c.744A>G, NM_024659.5:c.744A>G, NM_024659.4:c.744A>G, NM_001164629.5:c.744A>G, NM_001164629.4:c.744A>G, NM_001164629.3:c.744A>G, NM_001164629.2:c.744A>G, NM_001006636.5:c.744A>G, NM_001006636.4:c.744A>G, NM_001006636.3:c.744A>G, XM_011511855.4:c.891A>G, XM_011511855.3:c.891A>G, XM_011511855.2:c.891A>G, XM_011511855.1:c.891A>G, XM_011511856.4:c.795A>G, XM_011511856.3:c.795A>G, XM_011511856.2:c.795A>G, XM_011511856.1:c.795A>G, NM_001284233.4:c.744A>G, NM_001284233.3:c.744A>G, NM_001284233.2:c.744A>G, NM_001284233.1:c.744A>G, NM_001354355.3:c.288A>G, NM_001354355.2:c.288A>G, NM_001354355.1:c.288A>G, NM_001284238.3:c.648A>G, NM_001284238.2:c.648A>G, NM_001284238.1:c.648A>G, NM_001284234.3:c.357A>G, NM_001284234.2:c.357A>G, NM_001284234.1:c.357A>G, NR_164809.2:n.1717A>G, NR_164809.1:n.1717A>G, NM_001376315.2:c.744A>G, NM_001376315.1:c.744A>G, NM_001354351.2:c.357A>G, NM_001354351.1:c.357A>G, NM_001376318.2:c.744A>G, NM_001376318.1:c.744A>G, NM_001376324.2:c.744A>G, NM_001376324.1:c.744A>G, NM_001376319.2:c.744A>G, NM_001376319.1:c.744A>G, NM_001376329.2:c.288A>G, NM_001376329.1:c.288A>G, NM_001354350.2:c.288A>G, NM_001354350.1:c.288A>G, NM_001376310.2:c.744A>G, NM_001376310.1:c.744A>G, NM_001376307.2:c.744A>G, NM_001376307.1:c.744A>G, NM_001376306.2:c.891A>G, NM_001376306.1:c.891A>G, NM_001376311.2:c.744A>G, NM_001376311.1:c.744A>G, NM_001376308.2:c.744A>G, NM_001376308.1:c.744A>G, NR_164805.2:n.1085A>G, NR_164805.1:n.1085A>G, NM_001376309.2:c.744A>G, NM_001376309.1:c.744A>G, NM_001354354.2:c.744A>G, NM_001354354.1:c.744A>G, NM_001376314.2:c.744A>G, NM_001376314.1:c.744A>G, XM_024453145.2:c.795A>G, XM_024453145.1:c.795A>G, NM_001376322.2:c.744A>G, NM_001376322.1:c.744A>G, NM_001376317.2:c.891A>G, NM_001376317.1:c.891A>G, NM_001376312.2:c.744A>G, NM_001376312.1:c.744A>G, NM_001376316.2:c.744A>G, NM_001376316.1:c.744A>G, NR_164799.2:n.1203A>G, NR_164799.1:n.1203A>G, NM_001354360.2:c.744A>G, NM_001354360.1:c.744A>G, NR_164803.2:n.1085A>G, NR_164803.1:n.1085A>G, NR_164806.2:n.1049A>G, NR_164806.1:n.1049A>G, NM_001376313.2:c.744A>G, NM_001376313.1:c.744A>G, NR_148872.2:n.977A>G, NR_148872.1:n.977A>G, NR_164801.2:n.968A>G, NR_164801.1:n.968A>G, NM_001376320.2:c.744A>G, NM_001376320.1:c.744A>G, NR_164802.2:n.1085A>G, NR_164802.1:n.1085A>G, NM_001376321.2:c.744A>G, NM_001376321.1:c.744A>G, NM_001376323.2:c.744A>G, NM_001376323.1:c.744A>G, NR_164800.2:n.1028A>G, NR_164800.1:n.1028A>G, NR_164804.2:n.968A>G, NR_164804.1:n.968A>G, NM_001354356.2:c.744A>G, NM_001354356.1:c.744A>G, NM_001284235.2:c.744A>G, NM_001284235.1:c.744A>G, XM_047445844.1:c.918A>G, XM_047445845.1:c.795A>G, XM_047445842.1:c.918A>G, XM_047445843.1:c.918A>G, XM_047445841.1:c.918A>G, XM_047445846.1:c.504A>G, XM_047445847.1:c.228A>G, NM_001376330.1:c.744A>G, NM_001354361.1:c.744A>G, NM_001354358.1:c.744A>G

    2.

    rs1487976774 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:144141982 (GRCh38)
      2:144899549 (GRCh37)
      Canonical SPDI:
      NC_000002.12:144141981:T:C
      Gene:
      GTDC1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.144141982T>C, NC_000002.11:g.144899549T>C, NM_024659.6:c.421A>G, NM_024659.5:c.421A>G, NM_024659.4:c.421A>G, NM_001164629.5:c.421A>G, NM_001164629.4:c.421A>G, NM_001164629.3:c.421A>G, NM_001164629.2:c.421A>G, NM_001006636.5:c.421A>G, NM_001006636.4:c.421A>G, NM_001006636.3:c.421A>G, XM_011511855.4:c.421A>G, XM_011511855.3:c.421A>G, XM_011511855.2:c.421A>G, XM_011511855.1:c.421A>G, XM_011511856.4:c.325A>G, XM_011511856.3:c.325A>G, XM_011511856.2:c.325A>G, XM_011511856.1:c.325A>G, NM_001284233.4:c.421A>G, NM_001284233.3:c.421A>G, NM_001284233.2:c.421A>G, NM_001284233.1:c.421A>G, NM_001354355.3:c.-300A>G, NM_001354355.2:c.-300A>G, NM_001354355.1:c.-300A>G, NM_001284238.3:c.325A>G, NM_001284238.2:c.325A>G, NM_001284238.1:c.325A>G, NM_001354362.3:c.421A>G, NM_001354362.2:c.421A>G, NM_001354362.1:c.421A>G, NM_001284234.3:c.34A>G, NM_001284234.2:c.34A>G, NM_001284234.1:c.34A>G, NR_164809.2:n.1247A>G, NR_164809.1:n.1247A>G, NM_001376315.2:c.421A>G, NM_001376315.1:c.421A>G, NM_001354351.2:c.34A>G, NM_001354351.1:c.34A>G, NM_001376318.2:c.421A>G, NM_001376318.1:c.421A>G, NM_001376324.2:c.421A>G, NM_001376324.1:c.421A>G, NM_001376319.2:c.421A>G, NM_001376319.1:c.421A>G, NM_001376329.2:c.-404A>G, NM_001376329.1:c.-404A>G, NM_001354350.2:c.-307A>G, NM_001354350.1:c.-307A>G, NM_001376310.2:c.421A>G, NM_001376310.1:c.421A>G, NM_001376307.2:c.421A>G, NM_001376307.1:c.421A>G, NM_001376306.2:c.421A>G, NM_001376306.1:c.421A>G, NM_001376311.2:c.421A>G, NM_001376311.1:c.421A>G, NM_001354352.2:c.421A>G, NM_001354352.1:c.421A>G, NM_001376308.2:c.421A>G, NM_001376308.1:c.421A>G, NR_164805.2:n.645A>G, NR_164805.1:n.645A>G, NM_001376309.2:c.421A>G, NM_001376309.1:c.421A>G, NM_001354354.2:c.421A>G, NM_001354354.1:c.421A>G, NM_001376314.2:c.421A>G, NM_001376314.1:c.421A>G, XM_024453145.2:c.325A>G, XM_024453145.1:c.325A>G, NM_001376322.2:c.421A>G, NM_001376322.1:c.421A>G, NM_001376317.2:c.421A>G, NM_001376317.1:c.421A>G, NM_001376312.2:c.421A>G, NM_001376312.1:c.421A>G, NM_001376316.2:c.421A>G, NM_001376316.1:c.421A>G, NR_164799.2:n.763A>G, NR_164799.1:n.763A>G, NM_001354360.2:c.421A>G, NM_001354360.1:c.421A>G, NR_164803.2:n.645A>G, NR_164803.1:n.645A>G, NR_164806.2:n.726A>G, NR_164806.1:n.726A>G, NM_001376313.2:c.421A>G, NM_001376313.1:c.421A>G, NR_148872.2:n.654A>G, NR_148872.1:n.654A>G, NR_164808.2:n.645A>G, NR_164808.1:n.645A>G, NR_164801.2:n.645A>G, NR_164801.1:n.645A>G, NM_001376320.2:c.421A>G, NM_001376320.1:c.421A>G, NR_164802.2:n.645A>G, NR_164802.1:n.645A>G, NM_001376321.2:c.421A>G, NM_001376321.1:c.421A>G, NR_164807.2:n.645A>G, NR_164807.1:n.645A>G, NM_001376323.2:c.421A>G, NM_001376323.1:c.421A>G, NR_164800.2:n.705A>G, NR_164800.1:n.705A>G, NM_001376326.2:c.421A>G, NM_001376326.1:c.421A>G, NM_001376325.2:c.421A>G, NM_001376325.1:c.421A>G, NR_164804.2:n.645A>G, NR_164804.1:n.645A>G, NM_001376327.2:c.421A>G, NM_001376327.1:c.421A>G, NM_001354353.2:c.421A>G, NM_001354353.1:c.421A>G, NM_001376331.2:c.421A>G, NM_001376331.1:c.421A>G, NM_001376332.2:c.421A>G, NM_001376332.1:c.421A>G, NM_001354356.2:c.421A>G, NM_001354356.1:c.421A>G, NM_001284235.2:c.421A>G, NM_001284235.1:c.421A>G, XM_047445844.1:c.448A>G, XM_047445845.1:c.325A>G, XM_047445842.1:c.448A>G, XM_047445843.1:c.448A>G, XM_047445841.1:c.448A>G, XM_047445846.1:c.34A>G, NM_001376330.1:c.421A>G, NM_001354361.1:c.421A>G, NM_001354358.1:c.421A>G, NM_001376328.1:c.421A>G, NP_078935.2:p.Met141Val, NP_001158101.1:p.Met141Val, NP_001006637.1:p.Met141Val, XP_011510157.1:p.Met141Val, XP_011510158.1:p.Met109Val, NP_001271162.1:p.Met141Val, NP_001271167.1:p.Met109Val, NP_001341291.1:p.Met141Val, NP_001271163.1:p.Met12Val, NP_001363244.1:p.Met141Val, NP_001341280.1:p.Met12Val, NP_001363247.1:p.Met141Val, NP_001363253.1:p.Met141Val, NP_001363248.1:p.Met141Val, NP_001363239.1:p.Met141Val, NP_001363236.1:p.Met141Val, NP_001363235.1:p.Met141Val, NP_001363240.1:p.Met141Val, NP_001341281.1:p.Met141Val, NP_001363237.1:p.Met141Val, NP_001363238.1:p.Met141Val, NP_001341283.1:p.Met141Val, NP_001363243.1:p.Met141Val, XP_024308913.1:p.Met109Val, NP_001363251.1:p.Met141Val, NP_001363246.1:p.Met141Val, NP_001363241.1:p.Met141Val, NP_001363245.1:p.Met141Val, NP_001341289.1:p.Met141Val, NP_001363242.1:p.Met141Val, NP_001363249.1:p.Met141Val, NP_001363250.1:p.Met141Val, NP_001363252.1:p.Met141Val, NP_001363255.1:p.Met141Val, NP_001363254.1:p.Met141Val, NP_001363256.1:p.Met141Val, NP_001341282.1:p.Met141Val, NP_001363260.1:p.Met141Val, NP_001363261.1:p.Met141Val, NP_001341285.1:p.Met141Val, NP_001271164.1:p.Met141Val, XP_047301800.1:p.Met150Val, XP_047301801.1:p.Met109Val, XP_047301798.1:p.Met150Val, XP_047301799.1:p.Met150Val, XP_047301797.1:p.Met150Val, XP_047301802.1:p.Met12Val, NP_001363259.1:p.Met141Val, NP_001341290.1:p.Met141Val, NP_001341287.1:p.Met141Val, NP_001363257.1:p.Met141Val

      3.

      rs1487815408 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        2:144007473 (GRCh38)
        2:144765040 (GRCh37)
        Canonical SPDI:
        NC_000002.12:144007472:C:G
        Gene:
        GTDC1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000031/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000002.12:g.144007473C>G, NC_000002.11:g.144765040C>G, NM_024659.6:c.584G>C, NM_024659.5:c.584G>C, NM_024659.4:c.584G>C, NM_001164629.5:c.584G>C, NM_001164629.4:c.584G>C, NM_001164629.3:c.584G>C, NM_001164629.2:c.584G>C, NM_001006636.5:c.584G>C, NM_001006636.4:c.584G>C, NM_001006636.3:c.584G>C, XM_011511855.4:c.731G>C, XM_011511855.3:c.731G>C, XM_011511855.2:c.731G>C, XM_011511855.1:c.731G>C, XM_011511856.4:c.635G>C, XM_011511856.3:c.635G>C, XM_011511856.2:c.635G>C, XM_011511856.1:c.635G>C, NM_001284233.4:c.584G>C, NM_001284233.3:c.584G>C, NM_001284233.2:c.584G>C, NM_001284233.1:c.584G>C, NM_001354355.3:c.128G>C, NM_001354355.2:c.128G>C, NM_001354355.1:c.128G>C, NM_001284238.3:c.488G>C, NM_001284238.2:c.488G>C, NM_001284238.1:c.488G>C, NM_001284234.3:c.197G>C, NM_001284234.2:c.197G>C, NM_001284234.1:c.197G>C, NR_164809.2:n.1557G>C, NR_164809.1:n.1557G>C, NM_001376315.2:c.584G>C, NM_001376315.1:c.584G>C, NM_001354351.2:c.197G>C, NM_001354351.1:c.197G>C, NM_001376318.2:c.584G>C, NM_001376318.1:c.584G>C, NM_001376324.2:c.584G>C, NM_001376324.1:c.584G>C, NM_001376319.2:c.584G>C, NM_001376319.1:c.584G>C, NM_001376329.2:c.128G>C, NM_001376329.1:c.128G>C, NM_001354350.2:c.128G>C, NM_001354350.1:c.128G>C, NM_001376310.2:c.584G>C, NM_001376310.1:c.584G>C, NM_001376307.2:c.584G>C, NM_001376307.1:c.584G>C, NM_001376306.2:c.731G>C, NM_001376306.1:c.731G>C, NM_001376311.2:c.584G>C, NM_001376311.1:c.584G>C, NM_001376308.2:c.584G>C, NM_001376308.1:c.584G>C, NR_164805.2:n.925G>C, NR_164805.1:n.925G>C, NM_001376309.2:c.584G>C, NM_001376309.1:c.584G>C, NM_001354354.2:c.584G>C, NM_001354354.1:c.584G>C, NM_001376314.2:c.584G>C, NM_001376314.1:c.584G>C, XM_024453145.2:c.635G>C, XM_024453145.1:c.635G>C, NM_001376322.2:c.584G>C, NM_001376322.1:c.584G>C, NM_001376317.2:c.731G>C, NM_001376317.1:c.731G>C, NM_001376312.2:c.584G>C, NM_001376312.1:c.584G>C, NM_001376316.2:c.584G>C, NM_001376316.1:c.584G>C, NR_164799.2:n.1043G>C, NR_164799.1:n.1043G>C, NM_001354360.2:c.584G>C, NM_001354360.1:c.584G>C, NR_164803.2:n.925G>C, NR_164803.1:n.925G>C, NR_164806.2:n.889G>C, NR_164806.1:n.889G>C, NM_001376313.2:c.584G>C, NM_001376313.1:c.584G>C, NR_148872.2:n.817G>C, NR_148872.1:n.817G>C, NR_164801.2:n.808G>C, NR_164801.1:n.808G>C, NM_001376320.2:c.584G>C, NM_001376320.1:c.584G>C, NR_164802.2:n.925G>C, NR_164802.1:n.925G>C, NM_001376321.2:c.584G>C, NM_001376321.1:c.584G>C, NM_001376323.2:c.584G>C, NM_001376323.1:c.584G>C, NR_164800.2:n.868G>C, NR_164800.1:n.868G>C, NR_164804.2:n.808G>C, NR_164804.1:n.808G>C, NM_001354356.2:c.584G>C, NM_001354356.1:c.584G>C, NM_001284235.2:c.584G>C, NM_001284235.1:c.584G>C, XM_047445844.1:c.758G>C, XM_047445845.1:c.635G>C, XM_047445842.1:c.758G>C, XM_047445843.1:c.758G>C, XM_047445841.1:c.758G>C, XM_047445846.1:c.344G>C, XM_047445847.1:c.68G>C, NM_001376330.1:c.584G>C, NM_001354361.1:c.584G>C, NM_001354358.1:c.584G>C, NP_078935.2:p.Gly195Ala, NP_001158101.1:p.Gly195Ala, NP_001006637.1:p.Gly195Ala, XP_011510157.1:p.Gly244Ala, XP_011510158.1:p.Gly212Ala, NP_001271162.1:p.Gly195Ala, NP_001341284.1:p.Gly43Ala, NP_001271167.1:p.Gly163Ala, NP_001271163.1:p.Gly66Ala, NP_001363244.1:p.Gly195Ala, NP_001341280.1:p.Gly66Ala, NP_001363247.1:p.Gly195Ala, NP_001363253.1:p.Gly195Ala, NP_001363248.1:p.Gly195Ala, NP_001363258.1:p.Gly43Ala, NP_001341279.1:p.Gly43Ala, NP_001363239.1:p.Gly195Ala, NP_001363236.1:p.Gly195Ala, NP_001363235.1:p.Gly244Ala, NP_001363240.1:p.Gly195Ala, NP_001363237.1:p.Gly195Ala, NP_001363238.1:p.Gly195Ala, NP_001341283.1:p.Gly195Ala, NP_001363243.1:p.Gly195Ala, XP_024308913.1:p.Gly212Ala, NP_001363251.1:p.Gly195Ala, NP_001363246.1:p.Gly244Ala, NP_001363241.1:p.Gly195Ala, NP_001363245.1:p.Gly195Ala, NP_001341289.1:p.Gly195Ala, NP_001363242.1:p.Gly195Ala, NP_001363249.1:p.Gly195Ala, NP_001363250.1:p.Gly195Ala, NP_001363252.1:p.Gly195Ala, NP_001341285.1:p.Gly195Ala, NP_001271164.1:p.Gly195Ala, XP_047301800.1:p.Gly253Ala, XP_047301801.1:p.Gly212Ala, XP_047301798.1:p.Gly253Ala, XP_047301799.1:p.Gly253Ala, XP_047301797.1:p.Gly253Ala, XP_047301802.1:p.Gly115Ala, XP_047301803.1:p.Gly23Ala, NP_001363259.1:p.Gly195Ala, NP_001341290.1:p.Gly195Ala, NP_001341287.1:p.Gly195Ala

        4.

        rs1478873781 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          2:144145662 (GRCh38)
          2:144903229 (GRCh37)
          Canonical SPDI:
          NC_000002.12:144145661:A:C
          Gene:
          GTDC1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.144145662A>C, NC_000002.11:g.144903229A>C, NM_024659.6:c.257T>G, NM_024659.5:c.257T>G, NM_024659.4:c.257T>G, NM_001164629.5:c.257T>G, NM_001164629.4:c.257T>G, NM_001164629.3:c.257T>G, NM_001164629.2:c.257T>G, NM_001006636.5:c.257T>G, NM_001006636.4:c.257T>G, NM_001006636.3:c.257T>G, XM_011511855.4:c.257T>G, XM_011511855.3:c.257T>G, XM_011511855.2:c.257T>G, XM_011511855.1:c.257T>G, XM_011511856.4:c.161T>G, XM_011511856.3:c.161T>G, XM_011511856.2:c.161T>G, XM_011511856.1:c.161T>G, NM_001284233.4:c.257T>G, NM_001284233.3:c.257T>G, NM_001284233.2:c.257T>G, NM_001284233.1:c.257T>G, NM_001354355.3:c.-464T>G, NM_001354355.2:c.-464T>G, NM_001354355.1:c.-464T>G, NM_001284238.3:c.161T>G, NM_001284238.2:c.161T>G, NM_001284238.1:c.161T>G, NM_001354362.3:c.257T>G, NM_001354362.2:c.257T>G, NM_001354362.1:c.257T>G, NM_001284234.3:c.-131T>G, NM_001284234.2:c.-131T>G, NM_001284234.1:c.-131T>G, NR_164809.2:n.1083T>G, NR_164809.1:n.1083T>G, NM_001376315.2:c.257T>G, NM_001376315.1:c.257T>G, NM_001354351.2:c.-131T>G, NM_001354351.1:c.-131T>G, NM_001376318.2:c.257T>G, NM_001376318.1:c.257T>G, NM_001376324.2:c.257T>G, NM_001376324.1:c.257T>G, NM_001376319.2:c.257T>G, NM_001376319.1:c.257T>G, NM_001376329.2:c.-568T>G, NM_001376329.1:c.-568T>G, NM_001354350.2:c.-471T>G, NM_001354350.1:c.-471T>G, NM_001376310.2:c.257T>G, NM_001376310.1:c.257T>G, NM_001376307.2:c.257T>G, NM_001376307.1:c.257T>G, NM_001376306.2:c.257T>G, NM_001376306.1:c.257T>G, NM_001376311.2:c.257T>G, NM_001376311.1:c.257T>G, NM_001354352.2:c.257T>G, NM_001354352.1:c.257T>G, NM_001376308.2:c.257T>G, NM_001376308.1:c.257T>G, NR_164805.2:n.481T>G, NR_164805.1:n.481T>G, NM_001376309.2:c.257T>G, NM_001376309.1:c.257T>G, NM_001354354.2:c.257T>G, NM_001354354.1:c.257T>G, NM_001376314.2:c.257T>G, NM_001376314.1:c.257T>G, XM_024453145.2:c.161T>G, XM_024453145.1:c.161T>G, NM_001376322.2:c.257T>G, NM_001376322.1:c.257T>G, NM_001376317.2:c.257T>G, NM_001376317.1:c.257T>G, NM_001376312.2:c.257T>G, NM_001376312.1:c.257T>G, NM_001376316.2:c.257T>G, NM_001376316.1:c.257T>G, NR_164799.2:n.599T>G, NR_164799.1:n.599T>G, NM_001354360.2:c.257T>G, NM_001354360.1:c.257T>G, NR_164803.2:n.481T>G, NR_164803.1:n.481T>G, NR_164806.2:n.562T>G, NR_164806.1:n.562T>G, NM_001376313.2:c.257T>G, NM_001376313.1:c.257T>G, NR_148872.2:n.490T>G, NR_148872.1:n.490T>G, NR_164808.2:n.481T>G, NR_164808.1:n.481T>G, NR_164801.2:n.481T>G, NR_164801.1:n.481T>G, NM_001376320.2:c.257T>G, NM_001376320.1:c.257T>G, NR_164802.2:n.481T>G, NR_164802.1:n.481T>G, NM_001376321.2:c.257T>G, NM_001376321.1:c.257T>G, NR_164807.2:n.481T>G, NR_164807.1:n.481T>G, NM_001376323.2:c.257T>G, NM_001376323.1:c.257T>G, NR_164800.2:n.537T>G, NR_164800.1:n.537T>G, NM_001376326.2:c.257T>G, NM_001376326.1:c.257T>G, NM_001376325.2:c.257T>G, NM_001376325.1:c.257T>G, NR_164804.2:n.481T>G, NR_164804.1:n.481T>G, NM_001376327.2:c.257T>G, NM_001376327.1:c.257T>G, NM_001354353.2:c.257T>G, NM_001354353.1:c.257T>G, NM_001376331.2:c.257T>G, NM_001376331.1:c.257T>G, NM_001376332.2:c.257T>G, NM_001376332.1:c.257T>G, NM_001354356.2:c.257T>G, NM_001354356.1:c.257T>G, NM_001284235.2:c.257T>G, NM_001284235.1:c.257T>G, XM_047445844.1:c.284T>G, XM_047445845.1:c.161T>G, XM_047445842.1:c.284T>G, XM_047445843.1:c.284T>G, XM_047445841.1:c.284T>G, XM_047445846.1:c.-131T>G, NM_001376330.1:c.257T>G, NM_001354361.1:c.257T>G, NM_001354358.1:c.257T>G, NM_001376328.1:c.257T>G, NP_078935.2:p.Ile86Ser, NP_001158101.1:p.Ile86Ser, NP_001006637.1:p.Ile86Ser, XP_011510157.1:p.Ile86Ser, XP_011510158.1:p.Ile54Ser, NP_001271162.1:p.Ile86Ser, NP_001271167.1:p.Ile54Ser, NP_001341291.1:p.Ile86Ser, NP_001363244.1:p.Ile86Ser, NP_001363247.1:p.Ile86Ser, NP_001363253.1:p.Ile86Ser, NP_001363248.1:p.Ile86Ser, NP_001363239.1:p.Ile86Ser, NP_001363236.1:p.Ile86Ser, NP_001363235.1:p.Ile86Ser, NP_001363240.1:p.Ile86Ser, NP_001341281.1:p.Ile86Ser, NP_001363237.1:p.Ile86Ser, NP_001363238.1:p.Ile86Ser, NP_001341283.1:p.Ile86Ser, NP_001363243.1:p.Ile86Ser, XP_024308913.1:p.Ile54Ser, NP_001363251.1:p.Ile86Ser, NP_001363246.1:p.Ile86Ser, NP_001363241.1:p.Ile86Ser, NP_001363245.1:p.Ile86Ser, NP_001341289.1:p.Ile86Ser, NP_001363242.1:p.Ile86Ser, NP_001363249.1:p.Ile86Ser, NP_001363250.1:p.Ile86Ser, NP_001363252.1:p.Ile86Ser, NP_001363255.1:p.Ile86Ser, NP_001363254.1:p.Ile86Ser, NP_001363256.1:p.Ile86Ser, NP_001341282.1:p.Ile86Ser, NP_001363260.1:p.Ile86Ser, NP_001363261.1:p.Ile86Ser, NP_001341285.1:p.Ile86Ser, NP_001271164.1:p.Ile86Ser, XP_047301800.1:p.Ile95Ser, XP_047301801.1:p.Ile54Ser, XP_047301798.1:p.Ile95Ser, XP_047301799.1:p.Ile95Ser, XP_047301797.1:p.Ile95Ser, NP_001363259.1:p.Ile86Ser, NP_001341290.1:p.Ile86Ser, NP_001341287.1:p.Ile86Ser, NP_001363257.1:p.Ile86Ser

          5.

          rs1473887634 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:144208759 (GRCh38)
            2:144966326 (GRCh37)
            Canonical SPDI:
            NC_000002.12:144208758:G:A
            Gene:
            GTDC1 (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.144208759G>A, NC_000002.11:g.144966326G>A, NM_024659.6:c.23C>T, NM_024659.5:c.23C>T, NM_024659.4:c.23C>T, NM_001164629.5:c.23C>T, NM_001164629.4:c.23C>T, NM_001164629.3:c.23C>T, NM_001164629.2:c.23C>T, NM_001006636.5:c.23C>T, NM_001006636.4:c.23C>T, NM_001006636.3:c.23C>T, XM_011511855.4:c.23C>T, XM_011511855.3:c.23C>T, XM_011511855.2:c.23C>T, XM_011511855.1:c.23C>T, NM_001284233.4:c.23C>T, NM_001284233.3:c.23C>T, NM_001284233.2:c.23C>T, NM_001284233.1:c.23C>T, NM_001354355.3:c.-698C>T, NM_001354355.2:c.-698C>T, NM_001354355.1:c.-698C>T, NM_001284238.3:c.-306C>T, NM_001284238.2:c.-306C>T, NM_001284238.1:c.-306C>T, NM_001354362.3:c.23C>T, NM_001354362.2:c.23C>T, NM_001354362.1:c.23C>T, NR_164809.2:n.849C>T, NR_164809.1:n.849C>T, NM_001376315.2:c.23C>T, NM_001376315.1:c.23C>T, NM_001354351.2:c.-491C>T, NM_001354351.1:c.-491C>T, NM_001376318.2:c.23C>T, NM_001376318.1:c.23C>T, NM_001376324.2:c.23C>T, NM_001376324.1:c.23C>T, NM_001376319.2:c.23C>T, NM_001376319.1:c.23C>T, NM_001376329.2:c.-802C>T, NM_001376329.1:c.-802C>T, NM_001354350.2:c.-705C>T, NM_001354350.1:c.-705C>T, NM_001376310.2:c.23C>T, NM_001376310.1:c.23C>T, NM_001376307.2:c.23C>T, NM_001376307.1:c.23C>T, NM_001376306.2:c.23C>T, NM_001376306.1:c.23C>T, NM_001376311.2:c.23C>T, NM_001376311.1:c.23C>T, NM_001354352.2:c.23C>T, NM_001354352.1:c.23C>T, NM_001376308.2:c.23C>T, NM_001376308.1:c.23C>T, NR_164805.2:n.247C>T, NR_164805.1:n.247C>T, NM_001376309.2:c.23C>T, NM_001376309.1:c.23C>T, NM_001354354.2:c.23C>T, NM_001354354.1:c.23C>T, NM_001376314.2:c.23C>T, NM_001376314.1:c.23C>T, NM_001376322.2:c.23C>T, NM_001376322.1:c.23C>T, NM_001376317.2:c.23C>T, NM_001376317.1:c.23C>T, NM_001376312.2:c.23C>T, NM_001376312.1:c.23C>T, NM_001376316.2:c.23C>T, NM_001376316.1:c.23C>T, NR_164799.2:n.365C>T, NR_164799.1:n.365C>T, NM_001354360.2:c.23C>T, NM_001354360.1:c.23C>T, NR_164803.2:n.247C>T, NR_164803.1:n.247C>T, NR_164806.2:n.328C>T, NR_164806.1:n.328C>T, NM_001376313.2:c.23C>T, NM_001376313.1:c.23C>T, NR_148872.2:n.256C>T, NR_148872.1:n.256C>T, NR_164808.2:n.247C>T, NR_164808.1:n.247C>T, NR_164801.2:n.247C>T, NR_164801.1:n.247C>T, NM_001376320.2:c.23C>T, NM_001376320.1:c.23C>T, NR_164802.2:n.247C>T, NR_164802.1:n.247C>T, NM_001376321.2:c.23C>T, NM_001376321.1:c.23C>T, NR_164807.2:n.247C>T, NR_164807.1:n.247C>T, NM_001376323.2:c.23C>T, NM_001376323.1:c.23C>T, NR_164800.2:n.303C>T, NR_164800.1:n.303C>T, NM_001376326.2:c.23C>T, NM_001376326.1:c.23C>T, NM_001376325.2:c.23C>T, NM_001376325.1:c.23C>T, NR_164804.2:n.247C>T, NR_164804.1:n.247C>T, NM_001376327.2:c.23C>T, NM_001376327.1:c.23C>T, NM_001354353.2:c.23C>T, NM_001354353.1:c.23C>T, NM_001376331.2:c.23C>T, NM_001376331.1:c.23C>T, NM_001376332.2:c.23C>T, NM_001376332.1:c.23C>T, NM_001354356.2:c.23C>T, NM_001354356.1:c.23C>T, NM_001284235.2:c.23C>T, NM_001284235.1:c.23C>T, XM_047445844.1:c.50C>T, XM_047445842.1:c.50C>T, XM_047445843.1:c.50C>T, XM_047445841.1:c.50C>T, NM_001376330.1:c.23C>T, NM_001354361.1:c.23C>T, NM_001354358.1:c.23C>T, NM_001376328.1:c.23C>T, NP_078935.2:p.Ala8Val, NP_001158101.1:p.Ala8Val, NP_001006637.1:p.Ala8Val, XP_011510157.1:p.Ala8Val, NP_001271162.1:p.Ala8Val, NP_001341291.1:p.Ala8Val, NP_001363244.1:p.Ala8Val, NP_001363247.1:p.Ala8Val, NP_001363253.1:p.Ala8Val, NP_001363248.1:p.Ala8Val, NP_001363239.1:p.Ala8Val, NP_001363236.1:p.Ala8Val, NP_001363235.1:p.Ala8Val, NP_001363240.1:p.Ala8Val, NP_001341281.1:p.Ala8Val, NP_001363237.1:p.Ala8Val, NP_001363238.1:p.Ala8Val, NP_001341283.1:p.Ala8Val, NP_001363243.1:p.Ala8Val, NP_001363251.1:p.Ala8Val, NP_001363246.1:p.Ala8Val, NP_001363241.1:p.Ala8Val, NP_001363245.1:p.Ala8Val, NP_001341289.1:p.Ala8Val, NP_001363242.1:p.Ala8Val, NP_001363249.1:p.Ala8Val, NP_001363250.1:p.Ala8Val, NP_001363252.1:p.Ala8Val, NP_001363255.1:p.Ala8Val, NP_001363254.1:p.Ala8Val, NP_001363256.1:p.Ala8Val, NP_001341282.1:p.Ala8Val, NP_001363260.1:p.Ala8Val, NP_001363261.1:p.Ala8Val, NP_001341285.1:p.Ala8Val, NP_001271164.1:p.Ala8Val, XP_047301800.1:p.Ala17Val, XP_047301798.1:p.Ala17Val, XP_047301799.1:p.Ala17Val, XP_047301797.1:p.Ala17Val, NP_001363259.1:p.Ala8Val, NP_001341290.1:p.Ala8Val, NP_001341287.1:p.Ala8Val, NP_001363257.1:p.Ala8Val

            6.

            rs1473357500 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAAAGAAT>-,GAAAGAATGAAAGAAT [Show Flanks]
              Chromosome:
              2:144145575 (GRCh38)
              2:144903142 (GRCh37)
              Canonical SPDI:
              NC_000002.12:144145572:ATGAAAGAAT:AT,NC_000002.12:144145572:ATGAAAGAAT:ATGAAAGAATGAAAGAAT
              Gene:
              GTDC1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATGAAAGAATGAAAGAAT=0./0 (ALFA)
              -=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.144145575_144145582del, NC_000002.12:g.144145575_144145582dup, NC_000002.11:g.144903142_144903149del, NC_000002.11:g.144903142_144903149dup, NM_024659.6:c.339_346del, NM_024659.6:c.339_346dup, NM_024659.5:c.339_346del, NM_024659.5:c.339_346dup, NM_024659.4:c.339_346del, NM_024659.4:c.339_346dup, NM_001164629.5:c.339_346del, NM_001164629.5:c.339_346dup, NM_001164629.4:c.339_346del, NM_001164629.4:c.339_346dup, NM_001164629.3:c.339_346del, NM_001164629.3:c.339_346dup, NM_001164629.2:c.339_346del, NM_001164629.2:c.339_346dup, NM_001006636.5:c.339_346del, NM_001006636.5:c.339_346dup, NM_001006636.4:c.339_346del, NM_001006636.4:c.339_346dup, NM_001006636.3:c.339_346del, NM_001006636.3:c.339_346dup, XM_011511855.4:c.339_346del, XM_011511855.4:c.339_346dup, XM_011511855.3:c.339_346del, XM_011511855.3:c.339_346dup, XM_011511855.2:c.339_346del, XM_011511855.2:c.339_346dup, XM_011511855.1:c.339_346del, XM_011511855.1:c.339_346dup, XM_011511856.4:c.243_250del, XM_011511856.4:c.243_250dup, XM_011511856.3:c.243_250del, XM_011511856.3:c.243_250dup, XM_011511856.2:c.243_250del, XM_011511856.2:c.243_250dup, XM_011511856.1:c.243_250del, XM_011511856.1:c.243_250dup, NM_001284233.4:c.339_346del, NM_001284233.4:c.339_346dup, NM_001284233.3:c.339_346del, NM_001284233.3:c.339_346dup, NM_001284233.2:c.339_346del, NM_001284233.2:c.339_346dup, NM_001284233.1:c.339_346del, NM_001284233.1:c.339_346dup, NM_001354355.3:c.-382_-375del, NM_001354355.3:c.-382_-375dup, NM_001354355.2:c.-382_-375del, NM_001354355.2:c.-382_-375dup, NM_001354355.1:c.-382_-375del, NM_001354355.1:c.-382_-375dup, NM_001284238.3:c.243_250del, NM_001284238.3:c.243_250dup, NM_001284238.2:c.243_250del, NM_001284238.2:c.243_250dup, NM_001284238.1:c.243_250del, NM_001284238.1:c.243_250dup, NM_001354362.3:c.339_346del, NM_001354362.3:c.339_346dup, NM_001354362.2:c.339_346del, NM_001354362.2:c.339_346dup, NM_001354362.1:c.339_346del, NM_001354362.1:c.339_346dup, NM_001284234.3:c.-49_-42del, NM_001284234.3:c.-49_-42dup, NM_001284234.2:c.-49_-42del, NM_001284234.2:c.-49_-42dup, NM_001284234.1:c.-49_-42del, NM_001284234.1:c.-49_-42dup, NR_164809.2:n.1165_1172del, NR_164809.2:n.1165_1172dup, NR_164809.1:n.1165_1172del, NR_164809.1:n.1165_1172dup, NM_001376315.2:c.339_346del, NM_001376315.2:c.339_346dup, NM_001376315.1:c.339_346del, NM_001376315.1:c.339_346dup, NM_001354351.2:c.-49_-42del, NM_001354351.2:c.-49_-42dup, NM_001354351.1:c.-49_-42del, NM_001354351.1:c.-49_-42dup, NM_001376318.2:c.339_346del, NM_001376318.2:c.339_346dup, NM_001376318.1:c.339_346del, NM_001376318.1:c.339_346dup, NM_001376324.2:c.339_346del, NM_001376324.2:c.339_346dup, NM_001376324.1:c.339_346del, NM_001376324.1:c.339_346dup, NM_001376319.2:c.339_346del, NM_001376319.2:c.339_346dup, NM_001376319.1:c.339_346del, NM_001376319.1:c.339_346dup, NM_001376329.2:c.-486_-479del, NM_001376329.2:c.-486_-479dup, NM_001376329.1:c.-486_-479del, NM_001376329.1:c.-486_-479dup, NM_001354350.2:c.-389_-382del, NM_001354350.2:c.-389_-382dup, NM_001354350.1:c.-389_-382del, NM_001354350.1:c.-389_-382dup, NM_001376310.2:c.339_346del, NM_001376310.2:c.339_346dup, NM_001376310.1:c.339_346del, NM_001376310.1:c.339_346dup, NM_001376307.2:c.339_346del, NM_001376307.2:c.339_346dup, NM_001376307.1:c.339_346del, NM_001376307.1:c.339_346dup, NM_001376306.2:c.339_346del, NM_001376306.2:c.339_346dup, NM_001376306.1:c.339_346del, NM_001376306.1:c.339_346dup, NM_001376311.2:c.339_346del, NM_001376311.2:c.339_346dup, NM_001376311.1:c.339_346del, NM_001376311.1:c.339_346dup, NM_001354352.2:c.339_346del, NM_001354352.2:c.339_346dup, NM_001354352.1:c.339_346del, NM_001354352.1:c.339_346dup, NM_001376308.2:c.339_346del, NM_001376308.2:c.339_346dup, NM_001376308.1:c.339_346del, NM_001376308.1:c.339_346dup, NR_164805.2:n.563_570del, NR_164805.2:n.563_570dup, NR_164805.1:n.563_570del, NR_164805.1:n.563_570dup, NM_001376309.2:c.339_346del, NM_001376309.2:c.339_346dup, NM_001376309.1:c.339_346del, NM_001376309.1:c.339_346dup, NM_001354354.2:c.339_346del, NM_001354354.2:c.339_346dup, NM_001354354.1:c.339_346del, NM_001354354.1:c.339_346dup, NM_001376314.2:c.339_346del, NM_001376314.2:c.339_346dup, NM_001376314.1:c.339_346del, NM_001376314.1:c.339_346dup, XM_024453145.2:c.243_250del, XM_024453145.2:c.243_250dup, XM_024453145.1:c.243_250del, XM_024453145.1:c.243_250dup, NM_001376322.2:c.339_346del, NM_001376322.2:c.339_346dup, NM_001376322.1:c.339_346del, NM_001376322.1:c.339_346dup, NM_001376317.2:c.339_346del, NM_001376317.2:c.339_346dup, NM_001376317.1:c.339_346del, NM_001376317.1:c.339_346dup, NM_001376312.2:c.339_346del, NM_001376312.2:c.339_346dup, NM_001376312.1:c.339_346del, NM_001376312.1:c.339_346dup, NM_001376316.2:c.339_346del, NM_001376316.2:c.339_346dup, NM_001376316.1:c.339_346del, NM_001376316.1:c.339_346dup, NR_164799.2:n.681_688del, NR_164799.2:n.681_688dup, NR_164799.1:n.681_688del, NR_164799.1:n.681_688dup, NM_001354360.2:c.339_346del, NM_001354360.2:c.339_346dup, NM_001354360.1:c.339_346del, NM_001354360.1:c.339_346dup, NR_164803.2:n.563_570del, NR_164803.2:n.563_570dup, NR_164803.1:n.563_570del, NR_164803.1:n.563_570dup, NR_164806.2:n.644_651del, NR_164806.2:n.644_651dup, NR_164806.1:n.644_651del, NR_164806.1:n.644_651dup, NM_001376313.2:c.339_346del, NM_001376313.2:c.339_346dup, NM_001376313.1:c.339_346del, NM_001376313.1:c.339_346dup, NR_148872.2:n.572_579del, NR_148872.2:n.572_579dup, NR_148872.1:n.572_579del, NR_148872.1:n.572_579dup, NR_164808.2:n.563_570del, NR_164808.2:n.563_570dup, NR_164808.1:n.563_570del, NR_164808.1:n.563_570dup, NR_164801.2:n.563_570del, NR_164801.2:n.563_570dup, NR_164801.1:n.563_570del, NR_164801.1:n.563_570dup, NM_001376320.2:c.339_346del, NM_001376320.2:c.339_346dup, NM_001376320.1:c.339_346del, NM_001376320.1:c.339_346dup, NR_164802.2:n.563_570del, NR_164802.2:n.563_570dup, NR_164802.1:n.563_570del, NR_164802.1:n.563_570dup, NM_001376321.2:c.339_346del, NM_001376321.2:c.339_346dup, NM_001376321.1:c.339_346del, NM_001376321.1:c.339_346dup, NR_164807.2:n.563_570del, NR_164807.2:n.563_570dup, NR_164807.1:n.563_570del, NR_164807.1:n.563_570dup, NM_001376323.2:c.339_346del, NM_001376323.2:c.339_346dup, NM_001376323.1:c.339_346del, NM_001376323.1:c.339_346dup, NR_164800.2:n.619_626del, NR_164800.2:n.619_626dup, NR_164800.1:n.619_626del, NR_164800.1:n.619_626dup, NM_001376326.2:c.339_346del, NM_001376326.2:c.339_346dup, NM_001376326.1:c.339_346del, NM_001376326.1:c.339_346dup, NM_001376325.2:c.339_346del, NM_001376325.2:c.339_346dup, NM_001376325.1:c.339_346del, NM_001376325.1:c.339_346dup, NR_164804.2:n.563_570del, NR_164804.2:n.563_570dup, NR_164804.1:n.563_570del, NR_164804.1:n.563_570dup, NM_001376327.2:c.339_346del, NM_001376327.2:c.339_346dup, NM_001376327.1:c.339_346del, NM_001376327.1:c.339_346dup, NM_001354353.2:c.339_346del, NM_001354353.2:c.339_346dup, NM_001354353.1:c.339_346del, NM_001354353.1:c.339_346dup, NM_001376331.2:c.339_346del, NM_001376331.2:c.339_346dup, NM_001376331.1:c.339_346del, NM_001376331.1:c.339_346dup, NM_001376332.2:c.339_346del, NM_001376332.2:c.339_346dup, NM_001376332.1:c.339_346del, NM_001376332.1:c.339_346dup, NM_001354356.2:c.339_346del, NM_001354356.2:c.339_346dup, NM_001354356.1:c.339_346del, NM_001354356.1:c.339_346dup, NM_001284235.2:c.339_346del, NM_001284235.2:c.339_346dup, NM_001284235.1:c.339_346del, NM_001284235.1:c.339_346dup, XM_047445844.1:c.366_373del, XM_047445844.1:c.366_373dup, XM_047445845.1:c.243_250del, XM_047445845.1:c.243_250dup, XM_047445842.1:c.366_373del, XM_047445842.1:c.366_373dup, XM_047445843.1:c.366_373del, XM_047445843.1:c.366_373dup, XM_047445841.1:c.366_373del, XM_047445841.1:c.366_373dup, XM_047445846.1:c.-49_-42del, XM_047445846.1:c.-49_-42dup, NM_001376330.1:c.339_346del, NM_001376330.1:c.339_346dup, NM_001354361.1:c.339_346del, NM_001354361.1:c.339_346dup, NM_001354358.1:c.339_346del, NM_001354358.1:c.339_346dup, NM_001376328.1:c.339_346del, NM_001376328.1:c.339_346dup, NP_078935.2:p.Ile113fs, NP_078935.2:p.Cys116fs, NP_001158101.1:p.Ile113fs, NP_001158101.1:p.Cys116fs, NP_001006637.1:p.Ile113fs, NP_001006637.1:p.Cys116fs, XP_011510157.1:p.Ile113fs, XP_011510157.1:p.Cys116fs, XP_011510158.1:p.Ile81fs, XP_011510158.1:p.Cys84fs, NP_001271162.1:p.Ile113fs, NP_001271162.1:p.Cys116fs, NP_001271167.1:p.Ile81fs, NP_001271167.1:p.Cys84fs, NP_001341291.1:p.Ile113fs, NP_001341291.1:p.Cys116fs, NP_001363244.1:p.Ile113fs, NP_001363244.1:p.Cys116fs, NP_001363247.1:p.Ile113fs, NP_001363247.1:p.Cys116fs, NP_001363253.1:p.Ile113fs, NP_001363253.1:p.Cys116fs, NP_001363248.1:p.Ile113fs, NP_001363248.1:p.Cys116fs, NP_001363239.1:p.Ile113fs, NP_001363239.1:p.Cys116fs, NP_001363236.1:p.Ile113fs, NP_001363236.1:p.Cys116fs, NP_001363235.1:p.Ile113fs, NP_001363235.1:p.Cys116fs, NP_001363240.1:p.Ile113fs, NP_001363240.1:p.Cys116fs, NP_001341281.1:p.Ile113fs, NP_001341281.1:p.Cys116fs, NP_001363237.1:p.Ile113fs, NP_001363237.1:p.Cys116fs, NP_001363238.1:p.Ile113fs, NP_001363238.1:p.Cys116fs, NP_001341283.1:p.Ile113fs, NP_001341283.1:p.Cys116fs, NP_001363243.1:p.Ile113fs, NP_001363243.1:p.Cys116fs, XP_024308913.1:p.Ile81fs, XP_024308913.1:p.Cys84fs, NP_001363251.1:p.Ile113fs, NP_001363251.1:p.Cys116fs, NP_001363246.1:p.Ile113fs, NP_001363246.1:p.Cys116fs, NP_001363241.1:p.Ile113fs, NP_001363241.1:p.Cys116fs, NP_001363245.1:p.Ile113fs, NP_001363245.1:p.Cys116fs, NP_001341289.1:p.Ile113fs, NP_001341289.1:p.Cys116fs, NP_001363242.1:p.Ile113fs, NP_001363242.1:p.Cys116fs, NP_001363249.1:p.Ile113fs, NP_001363249.1:p.Cys116fs, NP_001363250.1:p.Ile113fs, NP_001363250.1:p.Cys116fs, NP_001363252.1:p.Ile113fs, NP_001363252.1:p.Cys116fs, NP_001363255.1:p.Ile113fs, NP_001363255.1:p.Cys116fs, NP_001363254.1:p.Ile113fs, NP_001363254.1:p.Cys116fs, NP_001363256.1:p.Ile113fs, NP_001363256.1:p.Cys116fs, NP_001341282.1:p.Ile113fs, NP_001341282.1:p.Cys116fs, NP_001363260.1:p.Ile113fs, NP_001363260.1:p.Cys116fs, NP_001363261.1:p.Ile113fs, NP_001363261.1:p.Cys116fs, NP_001341285.1:p.Ile113fs, NP_001341285.1:p.Cys116fs, NP_001271164.1:p.Ile113fs, NP_001271164.1:p.Cys116fs, XP_047301800.1:p.Ile122fs, XP_047301800.1:p.Cys125fs, XP_047301801.1:p.Ile81fs, XP_047301801.1:p.Cys84fs, XP_047301798.1:p.Ile122fs, XP_047301798.1:p.Cys125fs, XP_047301799.1:p.Ile122fs, XP_047301799.1:p.Cys125fs, XP_047301797.1:p.Ile122fs, XP_047301797.1:p.Cys125fs, NP_001363259.1:p.Ile113fs, NP_001363259.1:p.Cys116fs, NP_001341290.1:p.Ile113fs, NP_001341290.1:p.Cys116fs, NP_001341287.1:p.Ile113fs, NP_001341287.1:p.Cys116fs, NP_001363257.1:p.Ile113fs, NP_001363257.1:p.Cys116fs

              7.

              rs1458281880 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                2:144145658 (GRCh38)
                2:144903225 (GRCh37)
                Canonical SPDI:
                NC_000002.12:144145657:C:A,NC_000002.12:144145657:C:G
                Gene:
                GTDC1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000142/2 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.144145658C>A, NC_000002.12:g.144145658C>G, NC_000002.11:g.144903225C>A, NC_000002.11:g.144903225C>G, NM_024659.6:c.261G>T, NM_024659.6:c.261G>C, NM_024659.5:c.261G>T, NM_024659.5:c.261G>C, NM_024659.4:c.261G>T, NM_024659.4:c.261G>C, NM_001164629.5:c.261G>T, NM_001164629.5:c.261G>C, NM_001164629.4:c.261G>T, NM_001164629.4:c.261G>C, NM_001164629.3:c.261G>T, NM_001164629.3:c.261G>C, NM_001164629.2:c.261G>T, NM_001164629.2:c.261G>C, NM_001006636.5:c.261G>T, NM_001006636.5:c.261G>C, NM_001006636.4:c.261G>T, NM_001006636.4:c.261G>C, NM_001006636.3:c.261G>T, NM_001006636.3:c.261G>C, XM_011511855.4:c.261G>T, XM_011511855.4:c.261G>C, XM_011511855.3:c.261G>T, XM_011511855.3:c.261G>C, XM_011511855.2:c.261G>T, XM_011511855.2:c.261G>C, XM_011511855.1:c.261G>T, XM_011511855.1:c.261G>C, XM_011511856.4:c.165G>T, XM_011511856.4:c.165G>C, XM_011511856.3:c.165G>T, XM_011511856.3:c.165G>C, XM_011511856.2:c.165G>T, XM_011511856.2:c.165G>C, XM_011511856.1:c.165G>T, XM_011511856.1:c.165G>C, NM_001284233.4:c.261G>T, NM_001284233.4:c.261G>C, NM_001284233.3:c.261G>T, NM_001284233.3:c.261G>C, NM_001284233.2:c.261G>T, NM_001284233.2:c.261G>C, NM_001284233.1:c.261G>T, NM_001284233.1:c.261G>C, NM_001354355.3:c.-460G>T, NM_001354355.3:c.-460G>C, NM_001354355.2:c.-460G>T, NM_001354355.2:c.-460G>C, NM_001354355.1:c.-460G>T, NM_001354355.1:c.-460G>C, NM_001284238.3:c.165G>T, NM_001284238.3:c.165G>C, NM_001284238.2:c.165G>T, NM_001284238.2:c.165G>C, NM_001284238.1:c.165G>T, NM_001284238.1:c.165G>C, NM_001354362.3:c.261G>T, NM_001354362.3:c.261G>C, NM_001354362.2:c.261G>T, NM_001354362.2:c.261G>C, NM_001354362.1:c.261G>T, NM_001354362.1:c.261G>C, NM_001284234.3:c.-127G>T, NM_001284234.3:c.-127G>C, NM_001284234.2:c.-127G>T, NM_001284234.2:c.-127G>C, NM_001284234.1:c.-127G>T, NM_001284234.1:c.-127G>C, NR_164809.2:n.1087G>T, NR_164809.2:n.1087G>C, NR_164809.1:n.1087G>T, NR_164809.1:n.1087G>C, NM_001376315.2:c.261G>T, NM_001376315.2:c.261G>C, NM_001376315.1:c.261G>T, NM_001376315.1:c.261G>C, NM_001354351.2:c.-127G>T, NM_001354351.2:c.-127G>C, NM_001354351.1:c.-127G>T, NM_001354351.1:c.-127G>C, NM_001376318.2:c.261G>T, NM_001376318.2:c.261G>C, NM_001376318.1:c.261G>T, NM_001376318.1:c.261G>C, NM_001376324.2:c.261G>T, NM_001376324.2:c.261G>C, NM_001376324.1:c.261G>T, NM_001376324.1:c.261G>C, NM_001376319.2:c.261G>T, NM_001376319.2:c.261G>C, NM_001376319.1:c.261G>T, NM_001376319.1:c.261G>C, NM_001376329.2:c.-564G>T, NM_001376329.2:c.-564G>C, NM_001376329.1:c.-564G>T, NM_001376329.1:c.-564G>C, NM_001354350.2:c.-467G>T, NM_001354350.2:c.-467G>C, NM_001354350.1:c.-467G>T, NM_001354350.1:c.-467G>C, NM_001376310.2:c.261G>T, NM_001376310.2:c.261G>C, NM_001376310.1:c.261G>T, NM_001376310.1:c.261G>C, NM_001376307.2:c.261G>T, NM_001376307.2:c.261G>C, NM_001376307.1:c.261G>T, NM_001376307.1:c.261G>C, NM_001376306.2:c.261G>T, NM_001376306.2:c.261G>C, NM_001376306.1:c.261G>T, NM_001376306.1:c.261G>C, NM_001376311.2:c.261G>T, NM_001376311.2:c.261G>C, NM_001376311.1:c.261G>T, NM_001376311.1:c.261G>C, NM_001354352.2:c.261G>T, NM_001354352.2:c.261G>C, NM_001354352.1:c.261G>T, NM_001354352.1:c.261G>C, NM_001376308.2:c.261G>T, NM_001376308.2:c.261G>C, NM_001376308.1:c.261G>T, NM_001376308.1:c.261G>C, NR_164805.2:n.485G>T, NR_164805.2:n.485G>C, NR_164805.1:n.485G>T, NR_164805.1:n.485G>C, NM_001376309.2:c.261G>T, NM_001376309.2:c.261G>C, NM_001376309.1:c.261G>T, NM_001376309.1:c.261G>C, NM_001354354.2:c.261G>T, NM_001354354.2:c.261G>C, NM_001354354.1:c.261G>T, NM_001354354.1:c.261G>C, NM_001376314.2:c.261G>T, NM_001376314.2:c.261G>C, NM_001376314.1:c.261G>T, NM_001376314.1:c.261G>C, XM_024453145.2:c.165G>T, XM_024453145.2:c.165G>C, XM_024453145.1:c.165G>T, XM_024453145.1:c.165G>C, NM_001376322.2:c.261G>T, NM_001376322.2:c.261G>C, NM_001376322.1:c.261G>T, NM_001376322.1:c.261G>C, NM_001376317.2:c.261G>T, NM_001376317.2:c.261G>C, NM_001376317.1:c.261G>T, NM_001376317.1:c.261G>C, NM_001376312.2:c.261G>T, NM_001376312.2:c.261G>C, NM_001376312.1:c.261G>T, NM_001376312.1:c.261G>C, NM_001376316.2:c.261G>T, NM_001376316.2:c.261G>C, NM_001376316.1:c.261G>T, NM_001376316.1:c.261G>C, NR_164799.2:n.603G>T, NR_164799.2:n.603G>C, NR_164799.1:n.603G>T, NR_164799.1:n.603G>C, NM_001354360.2:c.261G>T, NM_001354360.2:c.261G>C, NM_001354360.1:c.261G>T, NM_001354360.1:c.261G>C, NR_164803.2:n.485G>T, NR_164803.2:n.485G>C, NR_164803.1:n.485G>T, NR_164803.1:n.485G>C, NR_164806.2:n.566G>T, NR_164806.2:n.566G>C, NR_164806.1:n.566G>T, NR_164806.1:n.566G>C, NM_001376313.2:c.261G>T, NM_001376313.2:c.261G>C, NM_001376313.1:c.261G>T, NM_001376313.1:c.261G>C, NR_148872.2:n.494G>T, NR_148872.2:n.494G>C, NR_148872.1:n.494G>T, NR_148872.1:n.494G>C, NR_164808.2:n.485G>T, NR_164808.2:n.485G>C, NR_164808.1:n.485G>T, NR_164808.1:n.485G>C, NR_164801.2:n.485G>T, NR_164801.2:n.485G>C, NR_164801.1:n.485G>T, NR_164801.1:n.485G>C, NM_001376320.2:c.261G>T, NM_001376320.2:c.261G>C, NM_001376320.1:c.261G>T, NM_001376320.1:c.261G>C, NR_164802.2:n.485G>T, NR_164802.2:n.485G>C, NR_164802.1:n.485G>T, NR_164802.1:n.485G>C, NM_001376321.2:c.261G>T, NM_001376321.2:c.261G>C, NM_001376321.1:c.261G>T, NM_001376321.1:c.261G>C, NR_164807.2:n.485G>T, NR_164807.2:n.485G>C, NR_164807.1:n.485G>T, NR_164807.1:n.485G>C, NM_001376323.2:c.261G>T, NM_001376323.2:c.261G>C, NM_001376323.1:c.261G>T, NM_001376323.1:c.261G>C, NR_164800.2:n.541G>T, NR_164800.2:n.541G>C, NR_164800.1:n.541G>T, NR_164800.1:n.541G>C, NM_001376326.2:c.261G>T, NM_001376326.2:c.261G>C, NM_001376326.1:c.261G>T, NM_001376326.1:c.261G>C, NM_001376325.2:c.261G>T, NM_001376325.2:c.261G>C, NM_001376325.1:c.261G>T, NM_001376325.1:c.261G>C, NR_164804.2:n.485G>T, NR_164804.2:n.485G>C, NR_164804.1:n.485G>T, NR_164804.1:n.485G>C, NM_001376327.2:c.261G>T, NM_001376327.2:c.261G>C, NM_001376327.1:c.261G>T, NM_001376327.1:c.261G>C, NM_001354353.2:c.261G>T, NM_001354353.2:c.261G>C, NM_001354353.1:c.261G>T, NM_001354353.1:c.261G>C, NM_001376331.2:c.261G>T, NM_001376331.2:c.261G>C, NM_001376331.1:c.261G>T, NM_001376331.1:c.261G>C, NM_001376332.2:c.261G>T, NM_001376332.2:c.261G>C, NM_001376332.1:c.261G>T, NM_001376332.1:c.261G>C, NM_001354356.2:c.261G>T, NM_001354356.2:c.261G>C, NM_001354356.1:c.261G>T, NM_001354356.1:c.261G>C, NM_001284235.2:c.261G>T, NM_001284235.2:c.261G>C, NM_001284235.1:c.261G>T, NM_001284235.1:c.261G>C, XM_047445844.1:c.288G>T, XM_047445844.1:c.288G>C, XM_047445845.1:c.165G>T, XM_047445845.1:c.165G>C, XM_047445842.1:c.288G>T, XM_047445842.1:c.288G>C, XM_047445843.1:c.288G>T, XM_047445843.1:c.288G>C, XM_047445841.1:c.288G>T, XM_047445841.1:c.288G>C, XM_047445846.1:c.-127G>T, XM_047445846.1:c.-127G>C, NM_001376330.1:c.261G>T, NM_001376330.1:c.261G>C, NM_001354361.1:c.261G>T, NM_001354361.1:c.261G>C, NM_001354358.1:c.261G>T, NM_001354358.1:c.261G>C, NM_001376328.1:c.261G>T, NM_001376328.1:c.261G>C

                8.

                rs1458153298 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  2:144145632 (GRCh38)
                  2:144903199 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:144145631:T:A
                  Gene:
                  GTDC1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.144145632T>A, NC_000002.11:g.144903199T>A, NM_024659.6:c.287A>T, NM_024659.5:c.287A>T, NM_024659.4:c.287A>T, NM_001164629.5:c.287A>T, NM_001164629.4:c.287A>T, NM_001164629.3:c.287A>T, NM_001164629.2:c.287A>T, NM_001006636.5:c.287A>T, NM_001006636.4:c.287A>T, NM_001006636.3:c.287A>T, XM_011511855.4:c.287A>T, XM_011511855.3:c.287A>T, XM_011511855.2:c.287A>T, XM_011511855.1:c.287A>T, XM_011511856.4:c.191A>T, XM_011511856.3:c.191A>T, XM_011511856.2:c.191A>T, XM_011511856.1:c.191A>T, NM_001284233.4:c.287A>T, NM_001284233.3:c.287A>T, NM_001284233.2:c.287A>T, NM_001284233.1:c.287A>T, NM_001354355.3:c.-434A>T, NM_001354355.2:c.-434A>T, NM_001354355.1:c.-434A>T, NM_001284238.3:c.191A>T, NM_001284238.2:c.191A>T, NM_001284238.1:c.191A>T, NM_001354362.3:c.287A>T, NM_001354362.2:c.287A>T, NM_001354362.1:c.287A>T, NM_001284234.3:c.-101A>T, NM_001284234.2:c.-101A>T, NM_001284234.1:c.-101A>T, NR_164809.2:n.1113A>T, NR_164809.1:n.1113A>T, NM_001376315.2:c.287A>T, NM_001376315.1:c.287A>T, NM_001354351.2:c.-101A>T, NM_001354351.1:c.-101A>T, NM_001376318.2:c.287A>T, NM_001376318.1:c.287A>T, NM_001376324.2:c.287A>T, NM_001376324.1:c.287A>T, NM_001376319.2:c.287A>T, NM_001376319.1:c.287A>T, NM_001376329.2:c.-538A>T, NM_001376329.1:c.-538A>T, NM_001354350.2:c.-441A>T, NM_001354350.1:c.-441A>T, NM_001376310.2:c.287A>T, NM_001376310.1:c.287A>T, NM_001376307.2:c.287A>T, NM_001376307.1:c.287A>T, NM_001376306.2:c.287A>T, NM_001376306.1:c.287A>T, NM_001376311.2:c.287A>T, NM_001376311.1:c.287A>T, NM_001354352.2:c.287A>T, NM_001354352.1:c.287A>T, NM_001376308.2:c.287A>T, NM_001376308.1:c.287A>T, NR_164805.2:n.511A>T, NR_164805.1:n.511A>T, NM_001376309.2:c.287A>T, NM_001376309.1:c.287A>T, NM_001354354.2:c.287A>T, NM_001354354.1:c.287A>T, NM_001376314.2:c.287A>T, NM_001376314.1:c.287A>T, XM_024453145.2:c.191A>T, XM_024453145.1:c.191A>T, NM_001376322.2:c.287A>T, NM_001376322.1:c.287A>T, NM_001376317.2:c.287A>T, NM_001376317.1:c.287A>T, NM_001376312.2:c.287A>T, NM_001376312.1:c.287A>T, NM_001376316.2:c.287A>T, NM_001376316.1:c.287A>T, NR_164799.2:n.629A>T, NR_164799.1:n.629A>T, NM_001354360.2:c.287A>T, NM_001354360.1:c.287A>T, NR_164803.2:n.511A>T, NR_164803.1:n.511A>T, NR_164806.2:n.592A>T, NR_164806.1:n.592A>T, NM_001376313.2:c.287A>T, NM_001376313.1:c.287A>T, NR_148872.2:n.520A>T, NR_148872.1:n.520A>T, NR_164808.2:n.511A>T, NR_164808.1:n.511A>T, NR_164801.2:n.511A>T, NR_164801.1:n.511A>T, NM_001376320.2:c.287A>T, NM_001376320.1:c.287A>T, NR_164802.2:n.511A>T, NR_164802.1:n.511A>T, NM_001376321.2:c.287A>T, NM_001376321.1:c.287A>T, NR_164807.2:n.511A>T, NR_164807.1:n.511A>T, NM_001376323.2:c.287A>T, NM_001376323.1:c.287A>T, NR_164800.2:n.567A>T, NR_164800.1:n.567A>T, NM_001376326.2:c.287A>T, NM_001376326.1:c.287A>T, NM_001376325.2:c.287A>T, NM_001376325.1:c.287A>T, NR_164804.2:n.511A>T, NR_164804.1:n.511A>T, NM_001376327.2:c.287A>T, NM_001376327.1:c.287A>T, NM_001354353.2:c.287A>T, NM_001354353.1:c.287A>T, NM_001376331.2:c.287A>T, NM_001376331.1:c.287A>T, NM_001376332.2:c.287A>T, NM_001376332.1:c.287A>T, NM_001354356.2:c.287A>T, NM_001354356.1:c.287A>T, NM_001284235.2:c.287A>T, NM_001284235.1:c.287A>T, XM_047445844.1:c.314A>T, XM_047445845.1:c.191A>T, XM_047445842.1:c.314A>T, XM_047445843.1:c.314A>T, XM_047445841.1:c.314A>T, XM_047445846.1:c.-101A>T, NM_001376330.1:c.287A>T, NM_001354361.1:c.287A>T, NM_001354358.1:c.287A>T, NM_001376328.1:c.287A>T, NP_078935.2:p.Tyr96Phe, NP_001158101.1:p.Tyr96Phe, NP_001006637.1:p.Tyr96Phe, XP_011510157.1:p.Tyr96Phe, XP_011510158.1:p.Tyr64Phe, NP_001271162.1:p.Tyr96Phe, NP_001271167.1:p.Tyr64Phe, NP_001341291.1:p.Tyr96Phe, NP_001363244.1:p.Tyr96Phe, NP_001363247.1:p.Tyr96Phe, NP_001363253.1:p.Tyr96Phe, NP_001363248.1:p.Tyr96Phe, NP_001363239.1:p.Tyr96Phe, NP_001363236.1:p.Tyr96Phe, NP_001363235.1:p.Tyr96Phe, NP_001363240.1:p.Tyr96Phe, NP_001341281.1:p.Tyr96Phe, NP_001363237.1:p.Tyr96Phe, NP_001363238.1:p.Tyr96Phe, NP_001341283.1:p.Tyr96Phe, NP_001363243.1:p.Tyr96Phe, XP_024308913.1:p.Tyr64Phe, NP_001363251.1:p.Tyr96Phe, NP_001363246.1:p.Tyr96Phe, NP_001363241.1:p.Tyr96Phe, NP_001363245.1:p.Tyr96Phe, NP_001341289.1:p.Tyr96Phe, NP_001363242.1:p.Tyr96Phe, NP_001363249.1:p.Tyr96Phe, NP_001363250.1:p.Tyr96Phe, NP_001363252.1:p.Tyr96Phe, NP_001363255.1:p.Tyr96Phe, NP_001363254.1:p.Tyr96Phe, NP_001363256.1:p.Tyr96Phe, NP_001341282.1:p.Tyr96Phe, NP_001363260.1:p.Tyr96Phe, NP_001363261.1:p.Tyr96Phe, NP_001341285.1:p.Tyr96Phe, NP_001271164.1:p.Tyr96Phe, XP_047301800.1:p.Tyr105Phe, XP_047301801.1:p.Tyr64Phe, XP_047301798.1:p.Tyr105Phe, XP_047301799.1:p.Tyr105Phe, XP_047301797.1:p.Tyr105Phe, NP_001363259.1:p.Tyr96Phe, NP_001341290.1:p.Tyr96Phe, NP_001341287.1:p.Tyr96Phe, NP_001363257.1:p.Tyr96Phe

                  9.

                  rs1457649233 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:144142010 (GRCh38)
                    2:144899577 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:144142009:T:C
                    Gene:
                    GTDC1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.144142010T>C, NC_000002.11:g.144899577T>C, NM_024659.6:c.393A>G, NM_024659.5:c.393A>G, NM_024659.4:c.393A>G, NM_001164629.5:c.393A>G, NM_001164629.4:c.393A>G, NM_001164629.3:c.393A>G, NM_001164629.2:c.393A>G, NM_001006636.5:c.393A>G, NM_001006636.4:c.393A>G, NM_001006636.3:c.393A>G, XM_011511855.4:c.393A>G, XM_011511855.3:c.393A>G, XM_011511855.2:c.393A>G, XM_011511855.1:c.393A>G, XM_011511856.4:c.297A>G, XM_011511856.3:c.297A>G, XM_011511856.2:c.297A>G, XM_011511856.1:c.297A>G, NM_001284233.4:c.393A>G, NM_001284233.3:c.393A>G, NM_001284233.2:c.393A>G, NM_001284233.1:c.393A>G, NM_001354355.3:c.-328A>G, NM_001354355.2:c.-328A>G, NM_001354355.1:c.-328A>G, NM_001284238.3:c.297A>G, NM_001284238.2:c.297A>G, NM_001284238.1:c.297A>G, NM_001354362.3:c.393A>G, NM_001354362.2:c.393A>G, NM_001354362.1:c.393A>G, NM_001284234.3:c.6A>G, NM_001284234.2:c.6A>G, NM_001284234.1:c.6A>G, NR_164809.2:n.1219A>G, NR_164809.1:n.1219A>G, NM_001376315.2:c.393A>G, NM_001376315.1:c.393A>G, NM_001354351.2:c.6A>G, NM_001354351.1:c.6A>G, NM_001376318.2:c.393A>G, NM_001376318.1:c.393A>G, NM_001376324.2:c.393A>G, NM_001376324.1:c.393A>G, NM_001376319.2:c.393A>G, NM_001376319.1:c.393A>G, NM_001376329.2:c.-432A>G, NM_001376329.1:c.-432A>G, NM_001354350.2:c.-335A>G, NM_001354350.1:c.-335A>G, NM_001376310.2:c.393A>G, NM_001376310.1:c.393A>G, NM_001376307.2:c.393A>G, NM_001376307.1:c.393A>G, NM_001376306.2:c.393A>G, NM_001376306.1:c.393A>G, NM_001376311.2:c.393A>G, NM_001376311.1:c.393A>G, NM_001354352.2:c.393A>G, NM_001354352.1:c.393A>G, NM_001376308.2:c.393A>G, NM_001376308.1:c.393A>G, NR_164805.2:n.617A>G, NR_164805.1:n.617A>G, NM_001376309.2:c.393A>G, NM_001376309.1:c.393A>G, NM_001354354.2:c.393A>G, NM_001354354.1:c.393A>G, NM_001376314.2:c.393A>G, NM_001376314.1:c.393A>G, XM_024453145.2:c.297A>G, XM_024453145.1:c.297A>G, NM_001376322.2:c.393A>G, NM_001376322.1:c.393A>G, NM_001376317.2:c.393A>G, NM_001376317.1:c.393A>G, NM_001376312.2:c.393A>G, NM_001376312.1:c.393A>G, NM_001376316.2:c.393A>G, NM_001376316.1:c.393A>G, NR_164799.2:n.735A>G, NR_164799.1:n.735A>G, NM_001354360.2:c.393A>G, NM_001354360.1:c.393A>G, NR_164803.2:n.617A>G, NR_164803.1:n.617A>G, NR_164806.2:n.698A>G, NR_164806.1:n.698A>G, NM_001376313.2:c.393A>G, NM_001376313.1:c.393A>G, NR_148872.2:n.626A>G, NR_148872.1:n.626A>G, NR_164808.2:n.617A>G, NR_164808.1:n.617A>G, NR_164801.2:n.617A>G, NR_164801.1:n.617A>G, NM_001376320.2:c.393A>G, NM_001376320.1:c.393A>G, NR_164802.2:n.617A>G, NR_164802.1:n.617A>G, NM_001376321.2:c.393A>G, NM_001376321.1:c.393A>G, NR_164807.2:n.617A>G, NR_164807.1:n.617A>G, NM_001376323.2:c.393A>G, NM_001376323.1:c.393A>G, NR_164800.2:n.677A>G, NR_164800.1:n.677A>G, NM_001376326.2:c.393A>G, NM_001376326.1:c.393A>G, NM_001376325.2:c.393A>G, NM_001376325.1:c.393A>G, NR_164804.2:n.617A>G, NR_164804.1:n.617A>G, NM_001376327.2:c.393A>G, NM_001376327.1:c.393A>G, NM_001354353.2:c.393A>G, NM_001354353.1:c.393A>G, NM_001376331.2:c.393A>G, NM_001376331.1:c.393A>G, NM_001376332.2:c.393A>G, NM_001376332.1:c.393A>G, NM_001354356.2:c.393A>G, NM_001354356.1:c.393A>G, NM_001284235.2:c.393A>G, NM_001284235.1:c.393A>G, XM_047445844.1:c.420A>G, XM_047445845.1:c.297A>G, XM_047445842.1:c.420A>G, XM_047445843.1:c.420A>G, XM_047445841.1:c.420A>G, XM_047445846.1:c.6A>G, NM_001376330.1:c.393A>G, NM_001354361.1:c.393A>G, NM_001354358.1:c.393A>G, NM_001376328.1:c.393A>G

                    10.

                    rs1456802789 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:144141941 (GRCh38)
                      2:144899508 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:144141940:G:A
                      Gene:
                      GTDC1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.144141941G>A, NC_000002.11:g.144899508G>A, NM_024659.6:c.462C>T, NM_024659.5:c.462C>T, NM_024659.4:c.462C>T, NM_001164629.5:c.462C>T, NM_001164629.4:c.462C>T, NM_001164629.3:c.462C>T, NM_001164629.2:c.462C>T, NM_001006636.5:c.462C>T, NM_001006636.4:c.462C>T, NM_001006636.3:c.462C>T, XM_011511855.4:c.462C>T, XM_011511855.3:c.462C>T, XM_011511855.2:c.462C>T, XM_011511855.1:c.462C>T, XM_011511856.4:c.366C>T, XM_011511856.3:c.366C>T, XM_011511856.2:c.366C>T, XM_011511856.1:c.366C>T, NM_001284233.4:c.462C>T, NM_001284233.3:c.462C>T, NM_001284233.2:c.462C>T, NM_001284233.1:c.462C>T, NM_001354355.3:c.-259C>T, NM_001354355.2:c.-259C>T, NM_001354355.1:c.-259C>T, NM_001284238.3:c.366C>T, NM_001284238.2:c.366C>T, NM_001284238.1:c.366C>T, NM_001354362.3:c.462C>T, NM_001354362.2:c.462C>T, NM_001354362.1:c.462C>T, NM_001284234.3:c.75C>T, NM_001284234.2:c.75C>T, NM_001284234.1:c.75C>T, NR_164809.2:n.1288C>T, NR_164809.1:n.1288C>T, NM_001376315.2:c.462C>T, NM_001376315.1:c.462C>T, NM_001354351.2:c.75C>T, NM_001354351.1:c.75C>T, NM_001376318.2:c.462C>T, NM_001376318.1:c.462C>T, NM_001376324.2:c.462C>T, NM_001376324.1:c.462C>T, NM_001376319.2:c.462C>T, NM_001376319.1:c.462C>T, NM_001376329.2:c.-363C>T, NM_001376329.1:c.-363C>T, NM_001354350.2:c.-266C>T, NM_001354350.1:c.-266C>T, NM_001376310.2:c.462C>T, NM_001376310.1:c.462C>T, NM_001376307.2:c.462C>T, NM_001376307.1:c.462C>T, NM_001376306.2:c.462C>T, NM_001376306.1:c.462C>T, NM_001376311.2:c.462C>T, NM_001376311.1:c.462C>T, NM_001354352.2:c.462C>T, NM_001354352.1:c.462C>T, NM_001376308.2:c.462C>T, NM_001376308.1:c.462C>T, NR_164805.2:n.686C>T, NR_164805.1:n.686C>T, NM_001376309.2:c.462C>T, NM_001376309.1:c.462C>T, NM_001354354.2:c.462C>T, NM_001354354.1:c.462C>T, NM_001376314.2:c.462C>T, NM_001376314.1:c.462C>T, XM_024453145.2:c.366C>T, XM_024453145.1:c.366C>T, NM_001376322.2:c.462C>T, NM_001376322.1:c.462C>T, NM_001376317.2:c.462C>T, NM_001376317.1:c.462C>T, NM_001376312.2:c.462C>T, NM_001376312.1:c.462C>T, NM_001376316.2:c.462C>T, NM_001376316.1:c.462C>T, NR_164799.2:n.804C>T, NR_164799.1:n.804C>T, NM_001354360.2:c.462C>T, NM_001354360.1:c.462C>T, NR_164803.2:n.686C>T, NR_164803.1:n.686C>T, NR_164806.2:n.767C>T, NR_164806.1:n.767C>T, NM_001376313.2:c.462C>T, NM_001376313.1:c.462C>T, NR_148872.2:n.695C>T, NR_148872.1:n.695C>T, NR_164808.2:n.686C>T, NR_164808.1:n.686C>T, NR_164801.2:n.686C>T, NR_164801.1:n.686C>T, NM_001376320.2:c.462C>T, NM_001376320.1:c.462C>T, NR_164802.2:n.686C>T, NR_164802.1:n.686C>T, NM_001376321.2:c.462C>T, NM_001376321.1:c.462C>T, NR_164807.2:n.686C>T, NR_164807.1:n.686C>T, NM_001376323.2:c.462C>T, NM_001376323.1:c.462C>T, NR_164800.2:n.746C>T, NR_164800.1:n.746C>T, NM_001376326.2:c.462C>T, NM_001376326.1:c.462C>T, NM_001376325.2:c.462C>T, NM_001376325.1:c.462C>T, NR_164804.2:n.686C>T, NR_164804.1:n.686C>T, NM_001376327.2:c.462C>T, NM_001376327.1:c.462C>T, NM_001354353.2:c.462C>T, NM_001354353.1:c.462C>T, NM_001376331.2:c.462C>T, NM_001376331.1:c.462C>T, NM_001376332.2:c.462C>T, NM_001376332.1:c.462C>T, NM_001354356.2:c.462C>T, NM_001354356.1:c.462C>T, NM_001284235.2:c.462C>T, NM_001284235.1:c.462C>T, XM_047445844.1:c.489C>T, XM_047445845.1:c.366C>T, XM_047445842.1:c.489C>T, XM_047445843.1:c.489C>T, XM_047445841.1:c.489C>T, XM_047445846.1:c.75C>T, NM_001376330.1:c.462C>T, NM_001354361.1:c.462C>T, NM_001354358.1:c.462C>T, NM_001376328.1:c.462C>T

                      11.

                      rs1456077750 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        2:144141899 (GRCh38)
                        2:144899466 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:144141898:C:G
                        Gene:
                        GTDC1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.144141899C>G, NC_000002.11:g.144899466C>G, NM_024659.6:c.504G>C, NM_024659.5:c.504G>C, NM_024659.4:c.504G>C, NM_001164629.5:c.504G>C, NM_001164629.4:c.504G>C, NM_001164629.3:c.504G>C, NM_001164629.2:c.504G>C, NM_001006636.5:c.504G>C, NM_001006636.4:c.504G>C, NM_001006636.3:c.504G>C, XM_011511855.4:c.504G>C, XM_011511855.3:c.504G>C, XM_011511855.2:c.504G>C, XM_011511855.1:c.504G>C, XM_011511856.4:c.408G>C, XM_011511856.3:c.408G>C, XM_011511856.2:c.408G>C, XM_011511856.1:c.408G>C, NM_001284233.4:c.504G>C, NM_001284233.3:c.504G>C, NM_001284233.2:c.504G>C, NM_001284233.1:c.504G>C, NM_001354355.3:c.-217G>C, NM_001354355.2:c.-217G>C, NM_001354355.1:c.-217G>C, NM_001284238.3:c.408G>C, NM_001284238.2:c.408G>C, NM_001284238.1:c.408G>C, NM_001354362.3:c.504G>C, NM_001354362.2:c.504G>C, NM_001354362.1:c.504G>C, NM_001284234.3:c.117G>C, NM_001284234.2:c.117G>C, NM_001284234.1:c.117G>C, NR_164809.2:n.1330G>C, NR_164809.1:n.1330G>C, NM_001376315.2:c.504G>C, NM_001376315.1:c.504G>C, NM_001354351.2:c.117G>C, NM_001354351.1:c.117G>C, NM_001376318.2:c.504G>C, NM_001376318.1:c.504G>C, NM_001376324.2:c.504G>C, NM_001376324.1:c.504G>C, NM_001376319.2:c.504G>C, NM_001376319.1:c.504G>C, NM_001376329.2:c.-321G>C, NM_001376329.1:c.-321G>C, NM_001354350.2:c.-224G>C, NM_001354350.1:c.-224G>C, NM_001376310.2:c.504G>C, NM_001376310.1:c.504G>C, NM_001376307.2:c.504G>C, NM_001376307.1:c.504G>C, NM_001376306.2:c.504G>C, NM_001376306.1:c.504G>C, NM_001376311.2:c.504G>C, NM_001376311.1:c.504G>C, NM_001354352.2:c.504G>C, NM_001354352.1:c.504G>C, NM_001376308.2:c.504G>C, NM_001376308.1:c.504G>C, NR_164805.2:n.728G>C, NR_164805.1:n.728G>C, NM_001376309.2:c.504G>C, NM_001376309.1:c.504G>C, NM_001354354.2:c.504G>C, NM_001354354.1:c.504G>C, NM_001376314.2:c.504G>C, NM_001376314.1:c.504G>C, XM_024453145.2:c.408G>C, XM_024453145.1:c.408G>C, NM_001376322.2:c.504G>C, NM_001376322.1:c.504G>C, NM_001376317.2:c.504G>C, NM_001376317.1:c.504G>C, NM_001376312.2:c.504G>C, NM_001376312.1:c.504G>C, NM_001376316.2:c.504G>C, NM_001376316.1:c.504G>C, NR_164799.2:n.846G>C, NR_164799.1:n.846G>C, NM_001354360.2:c.504G>C, NM_001354360.1:c.504G>C, NR_164803.2:n.728G>C, NR_164803.1:n.728G>C, NR_164806.2:n.809G>C, NR_164806.1:n.809G>C, NM_001376313.2:c.504G>C, NM_001376313.1:c.504G>C, NR_148872.2:n.737G>C, NR_148872.1:n.737G>C, NR_164808.2:n.728G>C, NR_164808.1:n.728G>C, NR_164801.2:n.728G>C, NR_164801.1:n.728G>C, NM_001376320.2:c.504G>C, NM_001376320.1:c.504G>C, NR_164802.2:n.728G>C, NR_164802.1:n.728G>C, NM_001376321.2:c.504G>C, NM_001376321.1:c.504G>C, NR_164807.2:n.728G>C, NR_164807.1:n.728G>C, NM_001376323.2:c.504G>C, NM_001376323.1:c.504G>C, NR_164800.2:n.788G>C, NR_164800.1:n.788G>C, NM_001376326.2:c.504G>C, NM_001376326.1:c.504G>C, NM_001376325.2:c.504G>C, NM_001376325.1:c.504G>C, NR_164804.2:n.728G>C, NR_164804.1:n.728G>C, NM_001376327.2:c.504G>C, NM_001376327.1:c.504G>C, NM_001354353.2:c.504G>C, NM_001354353.1:c.504G>C, NM_001376331.2:c.504G>C, NM_001376331.1:c.504G>C, NM_001376332.2:c.504G>C, NM_001376332.1:c.504G>C, NM_001354356.2:c.504G>C, NM_001354356.1:c.504G>C, NM_001284235.2:c.504G>C, NM_001284235.1:c.504G>C, XM_047445844.1:c.531G>C, XM_047445845.1:c.408G>C, XM_047445842.1:c.531G>C, XM_047445843.1:c.531G>C, XM_047445841.1:c.531G>C, XM_047445846.1:c.117G>C, NM_001376330.1:c.504G>C, NM_001354361.1:c.504G>C, NM_001354358.1:c.504G>C, NM_001376328.1:c.504G>C, NP_078935.2:p.Arg168Ser, NP_001158101.1:p.Arg168Ser, NP_001006637.1:p.Arg168Ser, XP_011510157.1:p.Arg168Ser, XP_011510158.1:p.Arg136Ser, NP_001271162.1:p.Arg168Ser, NP_001271167.1:p.Arg136Ser, NP_001341291.1:p.Arg168Ser, NP_001271163.1:p.Arg39Ser, NP_001363244.1:p.Arg168Ser, NP_001341280.1:p.Arg39Ser, NP_001363247.1:p.Arg168Ser, NP_001363253.1:p.Arg168Ser, NP_001363248.1:p.Arg168Ser, NP_001363239.1:p.Arg168Ser, NP_001363236.1:p.Arg168Ser, NP_001363235.1:p.Arg168Ser, NP_001363240.1:p.Arg168Ser, NP_001341281.1:p.Arg168Ser, NP_001363237.1:p.Arg168Ser, NP_001363238.1:p.Arg168Ser, NP_001341283.1:p.Arg168Ser, NP_001363243.1:p.Arg168Ser, XP_024308913.1:p.Arg136Ser, NP_001363251.1:p.Arg168Ser, NP_001363246.1:p.Arg168Ser, NP_001363241.1:p.Arg168Ser, NP_001363245.1:p.Arg168Ser, NP_001341289.1:p.Arg168Ser, NP_001363242.1:p.Arg168Ser, NP_001363249.1:p.Arg168Ser, NP_001363250.1:p.Arg168Ser, NP_001363252.1:p.Arg168Ser, NP_001363255.1:p.Arg168Ser, NP_001363254.1:p.Arg168Ser, NP_001363256.1:p.Arg168Ser, NP_001341282.1:p.Arg168Ser, NP_001363260.1:p.Arg168Ser, NP_001363261.1:p.Arg168Ser, NP_001341285.1:p.Arg168Ser, NP_001271164.1:p.Arg168Ser, XP_047301800.1:p.Arg177Ser, XP_047301801.1:p.Arg136Ser, XP_047301798.1:p.Arg177Ser, XP_047301799.1:p.Arg177Ser, XP_047301797.1:p.Arg177Ser, XP_047301802.1:p.Arg39Ser, NP_001363259.1:p.Arg168Ser, NP_001341290.1:p.Arg168Ser, NP_001341287.1:p.Arg168Ser, NP_001363257.1:p.Arg168Ser

                        12.

                        rs1455800945 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:144007249 (GRCh38)
                          2:144764816 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:144007248:G:C
                          Gene:
                          GTDC1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.144007249G>C, NC_000002.11:g.144764816G>C, NM_024659.6:c.808C>G, NM_024659.5:c.808C>G, NM_024659.4:c.808C>G, NM_001164629.5:c.808C>G, NM_001164629.4:c.808C>G, NM_001164629.3:c.808C>G, NM_001164629.2:c.808C>G, NM_001006636.5:c.808C>G, NM_001006636.4:c.808C>G, NM_001006636.3:c.808C>G, XM_011511855.4:c.955C>G, XM_011511855.3:c.955C>G, XM_011511855.2:c.955C>G, XM_011511855.1:c.955C>G, XM_011511856.4:c.859C>G, XM_011511856.3:c.859C>G, XM_011511856.2:c.859C>G, XM_011511856.1:c.859C>G, NM_001284233.4:c.808C>G, NM_001284233.3:c.808C>G, NM_001284233.2:c.808C>G, NM_001284233.1:c.808C>G, NM_001354355.3:c.352C>G, NM_001354355.2:c.352C>G, NM_001354355.1:c.352C>G, NM_001284238.3:c.712C>G, NM_001284238.2:c.712C>G, NM_001284238.1:c.712C>G, NM_001284234.3:c.421C>G, NM_001284234.2:c.421C>G, NM_001284234.1:c.421C>G, NR_164809.2:n.1781C>G, NR_164809.1:n.1781C>G, NM_001376315.2:c.808C>G, NM_001376315.1:c.808C>G, NM_001354351.2:c.421C>G, NM_001354351.1:c.421C>G, NM_001376318.2:c.808C>G, NM_001376318.1:c.808C>G, NM_001376324.2:c.808C>G, NM_001376324.1:c.808C>G, NM_001376319.2:c.808C>G, NM_001376319.1:c.808C>G, NM_001376329.2:c.352C>G, NM_001376329.1:c.352C>G, NM_001354350.2:c.352C>G, NM_001354350.1:c.352C>G, NM_001376310.2:c.808C>G, NM_001376310.1:c.808C>G, NM_001376307.2:c.808C>G, NM_001376307.1:c.808C>G, NM_001376306.2:c.955C>G, NM_001376306.1:c.955C>G, NM_001376311.2:c.808C>G, NM_001376311.1:c.808C>G, NM_001376308.2:c.808C>G, NM_001376308.1:c.808C>G, NR_164805.2:n.1149C>G, NR_164805.1:n.1149C>G, NM_001376309.2:c.808C>G, NM_001376309.1:c.808C>G, NM_001354354.2:c.808C>G, NM_001354354.1:c.808C>G, NM_001376314.2:c.808C>G, NM_001376314.1:c.808C>G, XM_024453145.2:c.859C>G, XM_024453145.1:c.859C>G, NM_001376322.2:c.808C>G, NM_001376322.1:c.808C>G, NM_001376317.2:c.955C>G, NM_001376317.1:c.955C>G, NM_001376312.2:c.808C>G, NM_001376312.1:c.808C>G, NM_001376316.2:c.808C>G, NM_001376316.1:c.808C>G, NR_164799.2:n.1267C>G, NR_164799.1:n.1267C>G, NM_001354360.2:c.808C>G, NM_001354360.1:c.808C>G, NR_164803.2:n.1149C>G, NR_164803.1:n.1149C>G, NR_164806.2:n.1113C>G, NR_164806.1:n.1113C>G, NM_001376313.2:c.808C>G, NM_001376313.1:c.808C>G, NR_148872.2:n.1041C>G, NR_148872.1:n.1041C>G, NR_164801.2:n.1032C>G, NR_164801.1:n.1032C>G, NM_001376320.2:c.808C>G, NM_001376320.1:c.808C>G, NR_164802.2:n.1149C>G, NR_164802.1:n.1149C>G, NM_001376321.2:c.808C>G, NM_001376321.1:c.808C>G, NM_001376323.2:c.808C>G, NM_001376323.1:c.808C>G, NR_164800.2:n.1092C>G, NR_164800.1:n.1092C>G, NR_164804.2:n.1032C>G, NR_164804.1:n.1032C>G, NM_001354356.2:c.808C>G, NM_001354356.1:c.808C>G, NM_001284235.2:c.808C>G, NM_001284235.1:c.808C>G, XM_047445844.1:c.982C>G, XM_047445845.1:c.859C>G, XM_047445842.1:c.982C>G, XM_047445843.1:c.982C>G, XM_047445841.1:c.982C>G, XM_047445846.1:c.568C>G, XM_047445847.1:c.292C>G, NM_001376330.1:c.808C>G, NM_001354361.1:c.808C>G, NM_001354358.1:c.808C>G, NP_078935.2:p.Pro270Ala, NP_001158101.1:p.Pro270Ala, NP_001006637.1:p.Pro270Ala, XP_011510157.1:p.Pro319Ala, XP_011510158.1:p.Pro287Ala, NP_001271162.1:p.Pro270Ala, NP_001341284.1:p.Pro118Ala, NP_001271167.1:p.Pro238Ala, NP_001271163.1:p.Pro141Ala, NP_001363244.1:p.Pro270Ala, NP_001341280.1:p.Pro141Ala, NP_001363247.1:p.Pro270Ala, NP_001363253.1:p.Pro270Ala, NP_001363248.1:p.Pro270Ala, NP_001363258.1:p.Pro118Ala, NP_001341279.1:p.Pro118Ala, NP_001363239.1:p.Pro270Ala, NP_001363236.1:p.Pro270Ala, NP_001363235.1:p.Pro319Ala, NP_001363240.1:p.Pro270Ala, NP_001363237.1:p.Pro270Ala, NP_001363238.1:p.Pro270Ala, NP_001341283.1:p.Pro270Ala, NP_001363243.1:p.Pro270Ala, XP_024308913.1:p.Pro287Ala, NP_001363251.1:p.Pro270Ala, NP_001363246.1:p.Pro319Ala, NP_001363241.1:p.Pro270Ala, NP_001363245.1:p.Pro270Ala, NP_001341289.1:p.Pro270Ala, NP_001363242.1:p.Pro270Ala, NP_001363249.1:p.Pro270Ala, NP_001363250.1:p.Pro270Ala, NP_001363252.1:p.Pro270Ala, NP_001341285.1:p.Pro270Ala, NP_001271164.1:p.Pro270Ala, XP_047301800.1:p.Pro328Ala, XP_047301801.1:p.Pro287Ala, XP_047301798.1:p.Pro328Ala, XP_047301799.1:p.Pro328Ala, XP_047301797.1:p.Pro328Ala, XP_047301802.1:p.Pro190Ala, XP_047301803.1:p.Pro98Ala, NP_001363259.1:p.Pro270Ala, NP_001341290.1:p.Pro270Ala, NP_001341287.1:p.Pro270Ala

                          13.

                          rs1451123114 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:144145646 (GRCh38)
                            2:144903213 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:144145645:C:T
                            Gene:
                            GTDC1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000002.12:g.144145646C>T, NC_000002.11:g.144903213C>T, NM_024659.6:c.273G>A, NM_024659.5:c.273G>A, NM_024659.4:c.273G>A, NM_001164629.5:c.273G>A, NM_001164629.4:c.273G>A, NM_001164629.3:c.273G>A, NM_001164629.2:c.273G>A, NM_001006636.5:c.273G>A, NM_001006636.4:c.273G>A, NM_001006636.3:c.273G>A, XM_011511855.4:c.273G>A, XM_011511855.3:c.273G>A, XM_011511855.2:c.273G>A, XM_011511855.1:c.273G>A, XM_011511856.4:c.177G>A, XM_011511856.3:c.177G>A, XM_011511856.2:c.177G>A, XM_011511856.1:c.177G>A, NM_001284233.4:c.273G>A, NM_001284233.3:c.273G>A, NM_001284233.2:c.273G>A, NM_001284233.1:c.273G>A, NM_001354355.3:c.-448G>A, NM_001354355.2:c.-448G>A, NM_001354355.1:c.-448G>A, NM_001284238.3:c.177G>A, NM_001284238.2:c.177G>A, NM_001284238.1:c.177G>A, NM_001354362.3:c.273G>A, NM_001354362.2:c.273G>A, NM_001354362.1:c.273G>A, NM_001284234.3:c.-115G>A, NM_001284234.2:c.-115G>A, NM_001284234.1:c.-115G>A, NR_164809.2:n.1099G>A, NR_164809.1:n.1099G>A, NM_001376315.2:c.273G>A, NM_001376315.1:c.273G>A, NM_001354351.2:c.-115G>A, NM_001354351.1:c.-115G>A, NM_001376318.2:c.273G>A, NM_001376318.1:c.273G>A, NM_001376324.2:c.273G>A, NM_001376324.1:c.273G>A, NM_001376319.2:c.273G>A, NM_001376319.1:c.273G>A, NM_001376329.2:c.-552G>A, NM_001376329.1:c.-552G>A, NM_001354350.2:c.-455G>A, NM_001354350.1:c.-455G>A, NM_001376310.2:c.273G>A, NM_001376310.1:c.273G>A, NM_001376307.2:c.273G>A, NM_001376307.1:c.273G>A, NM_001376306.2:c.273G>A, NM_001376306.1:c.273G>A, NM_001376311.2:c.273G>A, NM_001376311.1:c.273G>A, NM_001354352.2:c.273G>A, NM_001354352.1:c.273G>A, NM_001376308.2:c.273G>A, NM_001376308.1:c.273G>A, NR_164805.2:n.497G>A, NR_164805.1:n.497G>A, NM_001376309.2:c.273G>A, NM_001376309.1:c.273G>A, NM_001354354.2:c.273G>A, NM_001354354.1:c.273G>A, NM_001376314.2:c.273G>A, NM_001376314.1:c.273G>A, XM_024453145.2:c.177G>A, XM_024453145.1:c.177G>A, NM_001376322.2:c.273G>A, NM_001376322.1:c.273G>A, NM_001376317.2:c.273G>A, NM_001376317.1:c.273G>A, NM_001376312.2:c.273G>A, NM_001376312.1:c.273G>A, NM_001376316.2:c.273G>A, NM_001376316.1:c.273G>A, NR_164799.2:n.615G>A, NR_164799.1:n.615G>A, NM_001354360.2:c.273G>A, NM_001354360.1:c.273G>A, NR_164803.2:n.497G>A, NR_164803.1:n.497G>A, NR_164806.2:n.578G>A, NR_164806.1:n.578G>A, NM_001376313.2:c.273G>A, NM_001376313.1:c.273G>A, NR_148872.2:n.506G>A, NR_148872.1:n.506G>A, NR_164808.2:n.497G>A, NR_164808.1:n.497G>A, NR_164801.2:n.497G>A, NR_164801.1:n.497G>A, NM_001376320.2:c.273G>A, NM_001376320.1:c.273G>A, NR_164802.2:n.497G>A, NR_164802.1:n.497G>A, NM_001376321.2:c.273G>A, NM_001376321.1:c.273G>A, NR_164807.2:n.497G>A, NR_164807.1:n.497G>A, NM_001376323.2:c.273G>A, NM_001376323.1:c.273G>A, NR_164800.2:n.553G>A, NR_164800.1:n.553G>A, NM_001376326.2:c.273G>A, NM_001376326.1:c.273G>A, NM_001376325.2:c.273G>A, NM_001376325.1:c.273G>A, NR_164804.2:n.497G>A, NR_164804.1:n.497G>A, NM_001376327.2:c.273G>A, NM_001376327.1:c.273G>A, NM_001354353.2:c.273G>A, NM_001354353.1:c.273G>A, NM_001376331.2:c.273G>A, NM_001376331.1:c.273G>A, NM_001376332.2:c.273G>A, NM_001376332.1:c.273G>A, NM_001354356.2:c.273G>A, NM_001354356.1:c.273G>A, NM_001284235.2:c.273G>A, NM_001284235.1:c.273G>A, XM_047445844.1:c.300G>A, XM_047445845.1:c.177G>A, XM_047445842.1:c.300G>A, XM_047445843.1:c.300G>A, XM_047445841.1:c.300G>A, XM_047445846.1:c.-115G>A, NM_001376330.1:c.273G>A, NM_001354361.1:c.273G>A, NM_001354358.1:c.273G>A, NM_001376328.1:c.273G>A

                            14.

                            rs1450124343 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              2:144007409 (GRCh38)
                              2:144764976 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:144007408:C:A
                              Gene:
                              GTDC1 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000043/1 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000002.12:g.144007409C>A, NC_000002.11:g.144764976C>A, NM_024659.6:c.648G>T, NM_024659.5:c.648G>T, NM_024659.4:c.648G>T, NM_001164629.5:c.648G>T, NM_001164629.4:c.648G>T, NM_001164629.3:c.648G>T, NM_001164629.2:c.648G>T, NM_001006636.5:c.648G>T, NM_001006636.4:c.648G>T, NM_001006636.3:c.648G>T, XM_011511855.4:c.795G>T, XM_011511855.3:c.795G>T, XM_011511855.2:c.795G>T, XM_011511855.1:c.795G>T, XM_011511856.4:c.699G>T, XM_011511856.3:c.699G>T, XM_011511856.2:c.699G>T, XM_011511856.1:c.699G>T, NM_001284233.4:c.648G>T, NM_001284233.3:c.648G>T, NM_001284233.2:c.648G>T, NM_001284233.1:c.648G>T, NM_001354355.3:c.192G>T, NM_001354355.2:c.192G>T, NM_001354355.1:c.192G>T, NM_001284238.3:c.552G>T, NM_001284238.2:c.552G>T, NM_001284238.1:c.552G>T, NM_001284234.3:c.261G>T, NM_001284234.2:c.261G>T, NM_001284234.1:c.261G>T, NR_164809.2:n.1621G>T, NR_164809.1:n.1621G>T, NM_001376315.2:c.648G>T, NM_001376315.1:c.648G>T, NM_001354351.2:c.261G>T, NM_001354351.1:c.261G>T, NM_001376318.2:c.648G>T, NM_001376318.1:c.648G>T, NM_001376324.2:c.648G>T, NM_001376324.1:c.648G>T, NM_001376319.2:c.648G>T, NM_001376319.1:c.648G>T, NM_001376329.2:c.192G>T, NM_001376329.1:c.192G>T, NM_001354350.2:c.192G>T, NM_001354350.1:c.192G>T, NM_001376310.2:c.648G>T, NM_001376310.1:c.648G>T, NM_001376307.2:c.648G>T, NM_001376307.1:c.648G>T, NM_001376306.2:c.795G>T, NM_001376306.1:c.795G>T, NM_001376311.2:c.648G>T, NM_001376311.1:c.648G>T, NM_001376308.2:c.648G>T, NM_001376308.1:c.648G>T, NR_164805.2:n.989G>T, NR_164805.1:n.989G>T, NM_001376309.2:c.648G>T, NM_001376309.1:c.648G>T, NM_001354354.2:c.648G>T, NM_001354354.1:c.648G>T, NM_001376314.2:c.648G>T, NM_001376314.1:c.648G>T, XM_024453145.2:c.699G>T, XM_024453145.1:c.699G>T, NM_001376322.2:c.648G>T, NM_001376322.1:c.648G>T, NM_001376317.2:c.795G>T, NM_001376317.1:c.795G>T, NM_001376312.2:c.648G>T, NM_001376312.1:c.648G>T, NM_001376316.2:c.648G>T, NM_001376316.1:c.648G>T, NR_164799.2:n.1107G>T, NR_164799.1:n.1107G>T, NM_001354360.2:c.648G>T, NM_001354360.1:c.648G>T, NR_164803.2:n.989G>T, NR_164803.1:n.989G>T, NR_164806.2:n.953G>T, NR_164806.1:n.953G>T, NM_001376313.2:c.648G>T, NM_001376313.1:c.648G>T, NR_148872.2:n.881G>T, NR_148872.1:n.881G>T, NR_164801.2:n.872G>T, NR_164801.1:n.872G>T, NM_001376320.2:c.648G>T, NM_001376320.1:c.648G>T, NR_164802.2:n.989G>T, NR_164802.1:n.989G>T, NM_001376321.2:c.648G>T, NM_001376321.1:c.648G>T, NM_001376323.2:c.648G>T, NM_001376323.1:c.648G>T, NR_164800.2:n.932G>T, NR_164800.1:n.932G>T, NR_164804.2:n.872G>T, NR_164804.1:n.872G>T, NM_001354356.2:c.648G>T, NM_001354356.1:c.648G>T, NM_001284235.2:c.648G>T, NM_001284235.1:c.648G>T, XM_047445844.1:c.822G>T, XM_047445845.1:c.699G>T, XM_047445842.1:c.822G>T, XM_047445843.1:c.822G>T, XM_047445841.1:c.822G>T, XM_047445846.1:c.408G>T, XM_047445847.1:c.132G>T, NM_001376330.1:c.648G>T, NM_001354361.1:c.648G>T, NM_001354358.1:c.648G>T, NP_078935.2:p.Lys216Asn, NP_001158101.1:p.Lys216Asn, NP_001006637.1:p.Lys216Asn, XP_011510157.1:p.Lys265Asn, XP_011510158.1:p.Lys233Asn, NP_001271162.1:p.Lys216Asn, NP_001341284.1:p.Lys64Asn, NP_001271167.1:p.Lys184Asn, NP_001271163.1:p.Lys87Asn, NP_001363244.1:p.Lys216Asn, NP_001341280.1:p.Lys87Asn, NP_001363247.1:p.Lys216Asn, NP_001363253.1:p.Lys216Asn, NP_001363248.1:p.Lys216Asn, NP_001363258.1:p.Lys64Asn, NP_001341279.1:p.Lys64Asn, NP_001363239.1:p.Lys216Asn, NP_001363236.1:p.Lys216Asn, NP_001363235.1:p.Lys265Asn, NP_001363240.1:p.Lys216Asn, NP_001363237.1:p.Lys216Asn, NP_001363238.1:p.Lys216Asn, NP_001341283.1:p.Lys216Asn, NP_001363243.1:p.Lys216Asn, XP_024308913.1:p.Lys233Asn, NP_001363251.1:p.Lys216Asn, NP_001363246.1:p.Lys265Asn, NP_001363241.1:p.Lys216Asn, NP_001363245.1:p.Lys216Asn, NP_001341289.1:p.Lys216Asn, NP_001363242.1:p.Lys216Asn, NP_001363249.1:p.Lys216Asn, NP_001363250.1:p.Lys216Asn, NP_001363252.1:p.Lys216Asn, NP_001341285.1:p.Lys216Asn, NP_001271164.1:p.Lys216Asn, XP_047301800.1:p.Lys274Asn, XP_047301801.1:p.Lys233Asn, XP_047301798.1:p.Lys274Asn, XP_047301799.1:p.Lys274Asn, XP_047301797.1:p.Lys274Asn, XP_047301802.1:p.Lys136Asn, XP_047301803.1:p.Lys44Asn, NP_001363259.1:p.Lys216Asn, NP_001341290.1:p.Lys216Asn, NP_001341287.1:p.Lys216Asn

                              15.

                              rs1448145790 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:144208768 (GRCh38)
                                2:144966335 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:144208767:A:G
                                Gene:
                                GTDC1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.144208768A>G, NC_000002.11:g.144966335A>G, NM_024659.6:c.14T>C, NM_024659.5:c.14T>C, NM_024659.4:c.14T>C, NM_001164629.5:c.14T>C, NM_001164629.4:c.14T>C, NM_001164629.3:c.14T>C, NM_001164629.2:c.14T>C, NM_001006636.5:c.14T>C, NM_001006636.4:c.14T>C, NM_001006636.3:c.14T>C, XM_011511855.4:c.14T>C, XM_011511855.3:c.14T>C, XM_011511855.2:c.14T>C, XM_011511855.1:c.14T>C, NM_001284233.4:c.14T>C, NM_001284233.3:c.14T>C, NM_001284233.2:c.14T>C, NM_001284233.1:c.14T>C, NM_001354355.3:c.-707T>C, NM_001354355.2:c.-707T>C, NM_001354355.1:c.-707T>C, NM_001284238.3:c.-315T>C, NM_001284238.2:c.-315T>C, NM_001284238.1:c.-315T>C, NM_001354362.3:c.14T>C, NM_001354362.2:c.14T>C, NM_001354362.1:c.14T>C, NR_164809.2:n.840T>C, NR_164809.1:n.840T>C, NM_001376315.2:c.14T>C, NM_001376315.1:c.14T>C, NM_001354351.2:c.-500T>C, NM_001354351.1:c.-500T>C, NM_001376318.2:c.14T>C, NM_001376318.1:c.14T>C, NM_001376324.2:c.14T>C, NM_001376324.1:c.14T>C, NM_001376319.2:c.14T>C, NM_001376319.1:c.14T>C, NM_001376329.2:c.-811T>C, NM_001376329.1:c.-811T>C, NM_001354350.2:c.-714T>C, NM_001354350.1:c.-714T>C, NM_001376310.2:c.14T>C, NM_001376310.1:c.14T>C, NM_001376307.2:c.14T>C, NM_001376307.1:c.14T>C, NM_001376306.2:c.14T>C, NM_001376306.1:c.14T>C, NM_001376311.2:c.14T>C, NM_001376311.1:c.14T>C, NM_001354352.2:c.14T>C, NM_001354352.1:c.14T>C, NM_001376308.2:c.14T>C, NM_001376308.1:c.14T>C, NR_164805.2:n.238T>C, NR_164805.1:n.238T>C, NM_001376309.2:c.14T>C, NM_001376309.1:c.14T>C, NM_001354354.2:c.14T>C, NM_001354354.1:c.14T>C, NM_001376314.2:c.14T>C, NM_001376314.1:c.14T>C, NM_001376322.2:c.14T>C, NM_001376322.1:c.14T>C, NM_001376317.2:c.14T>C, NM_001376317.1:c.14T>C, NM_001376312.2:c.14T>C, NM_001376312.1:c.14T>C, NM_001376316.2:c.14T>C, NM_001376316.1:c.14T>C, NR_164799.2:n.356T>C, NR_164799.1:n.356T>C, NM_001354360.2:c.14T>C, NM_001354360.1:c.14T>C, NR_164803.2:n.238T>C, NR_164803.1:n.238T>C, NR_164806.2:n.319T>C, NR_164806.1:n.319T>C, NM_001376313.2:c.14T>C, NM_001376313.1:c.14T>C, NR_148872.2:n.247T>C, NR_148872.1:n.247T>C, NR_164808.2:n.238T>C, NR_164808.1:n.238T>C, NR_164801.2:n.238T>C, NR_164801.1:n.238T>C, NM_001376320.2:c.14T>C, NM_001376320.1:c.14T>C, NR_164802.2:n.238T>C, NR_164802.1:n.238T>C, NM_001376321.2:c.14T>C, NM_001376321.1:c.14T>C, NR_164807.2:n.238T>C, NR_164807.1:n.238T>C, NM_001376323.2:c.14T>C, NM_001376323.1:c.14T>C, NR_164800.2:n.294T>C, NR_164800.1:n.294T>C, NM_001376326.2:c.14T>C, NM_001376326.1:c.14T>C, NM_001376325.2:c.14T>C, NM_001376325.1:c.14T>C, NR_164804.2:n.238T>C, NR_164804.1:n.238T>C, NM_001376327.2:c.14T>C, NM_001376327.1:c.14T>C, NM_001354353.2:c.14T>C, NM_001354353.1:c.14T>C, NM_001376331.2:c.14T>C, NM_001376331.1:c.14T>C, NM_001376332.2:c.14T>C, NM_001376332.1:c.14T>C, NM_001354356.2:c.14T>C, NM_001354356.1:c.14T>C, NM_001284235.2:c.14T>C, NM_001284235.1:c.14T>C, XM_047445844.1:c.41T>C, XM_047445842.1:c.41T>C, XM_047445843.1:c.41T>C, XM_047445841.1:c.41T>C, NM_001376330.1:c.14T>C, NM_001354361.1:c.14T>C, NM_001354358.1:c.14T>C, NM_001376328.1:c.14T>C, NP_078935.2:p.Ile5Thr, NP_001158101.1:p.Ile5Thr, NP_001006637.1:p.Ile5Thr, XP_011510157.1:p.Ile5Thr, NP_001271162.1:p.Ile5Thr, NP_001341291.1:p.Ile5Thr, NP_001363244.1:p.Ile5Thr, NP_001363247.1:p.Ile5Thr, NP_001363253.1:p.Ile5Thr, NP_001363248.1:p.Ile5Thr, NP_001363239.1:p.Ile5Thr, NP_001363236.1:p.Ile5Thr, NP_001363235.1:p.Ile5Thr, NP_001363240.1:p.Ile5Thr, NP_001341281.1:p.Ile5Thr, NP_001363237.1:p.Ile5Thr, NP_001363238.1:p.Ile5Thr, NP_001341283.1:p.Ile5Thr, NP_001363243.1:p.Ile5Thr, NP_001363251.1:p.Ile5Thr, NP_001363246.1:p.Ile5Thr, NP_001363241.1:p.Ile5Thr, NP_001363245.1:p.Ile5Thr, NP_001341289.1:p.Ile5Thr, NP_001363242.1:p.Ile5Thr, NP_001363249.1:p.Ile5Thr, NP_001363250.1:p.Ile5Thr, NP_001363252.1:p.Ile5Thr, NP_001363255.1:p.Ile5Thr, NP_001363254.1:p.Ile5Thr, NP_001363256.1:p.Ile5Thr, NP_001341282.1:p.Ile5Thr, NP_001363260.1:p.Ile5Thr, NP_001363261.1:p.Ile5Thr, NP_001341285.1:p.Ile5Thr, NP_001271164.1:p.Ile5Thr, XP_047301800.1:p.Ile14Thr, XP_047301798.1:p.Ile14Thr, XP_047301799.1:p.Ile14Thr, XP_047301797.1:p.Ile14Thr, NP_001363259.1:p.Ile5Thr, NP_001341290.1:p.Ile5Thr, NP_001341287.1:p.Ile5Thr, NP_001363257.1:p.Ile5Thr

                                16.

                                rs1442336553 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  2:144007228 (GRCh38)
                                  2:144764795 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:144007227:C:G,NC_000002.12:144007227:C:T
                                  Gene:
                                  GTDC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000142/2 (TOMMO)
                                  T=0.001027/3 (KOREAN)
                                  HGVS:
                                  NC_000002.12:g.144007228C>G, NC_000002.12:g.144007228C>T, NC_000002.11:g.144764795C>G, NC_000002.11:g.144764795C>T, NM_024659.6:c.829G>C, NM_024659.6:c.829G>A, NM_024659.5:c.829G>C, NM_024659.5:c.829G>A, NM_024659.4:c.829G>C, NM_024659.4:c.829G>A, NM_001164629.5:c.829G>C, NM_001164629.5:c.829G>A, NM_001164629.4:c.829G>C, NM_001164629.4:c.829G>A, NM_001164629.3:c.829G>C, NM_001164629.3:c.829G>A, NM_001164629.2:c.829G>C, NM_001164629.2:c.829G>A, NM_001006636.5:c.829G>C, NM_001006636.5:c.829G>A, NM_001006636.4:c.829G>C, NM_001006636.4:c.829G>A, NM_001006636.3:c.829G>C, NM_001006636.3:c.829G>A, XM_011511855.4:c.976G>C, XM_011511855.4:c.976G>A, XM_011511855.3:c.976G>C, XM_011511855.3:c.976G>A, XM_011511855.2:c.976G>C, XM_011511855.2:c.976G>A, XM_011511855.1:c.976G>C, XM_011511855.1:c.976G>A, XM_011511856.4:c.880G>C, XM_011511856.4:c.880G>A, XM_011511856.3:c.880G>C, XM_011511856.3:c.880G>A, XM_011511856.2:c.880G>C, XM_011511856.2:c.880G>A, XM_011511856.1:c.880G>C, XM_011511856.1:c.880G>A, NM_001284233.4:c.829G>C, NM_001284233.4:c.829G>A, NM_001284233.3:c.829G>C, NM_001284233.3:c.829G>A, NM_001284233.2:c.829G>C, NM_001284233.2:c.829G>A, NM_001284233.1:c.829G>C, NM_001284233.1:c.829G>A, NM_001354355.3:c.373G>C, NM_001354355.3:c.373G>A, NM_001354355.2:c.373G>C, NM_001354355.2:c.373G>A, NM_001354355.1:c.373G>C, NM_001354355.1:c.373G>A, NM_001284238.3:c.733G>C, NM_001284238.3:c.733G>A, NM_001284238.2:c.733G>C, NM_001284238.2:c.733G>A, NM_001284238.1:c.733G>C, NM_001284238.1:c.733G>A, NM_001284234.3:c.442G>C, NM_001284234.3:c.442G>A, NM_001284234.2:c.442G>C, NM_001284234.2:c.442G>A, NM_001284234.1:c.442G>C, NM_001284234.1:c.442G>A, NR_164809.2:n.1802G>C, NR_164809.2:n.1802G>A, NR_164809.1:n.1802G>C, NR_164809.1:n.1802G>A, NM_001376315.2:c.829G>C, NM_001376315.2:c.829G>A, NM_001376315.1:c.829G>C, NM_001376315.1:c.829G>A, NM_001354351.2:c.442G>C, NM_001354351.2:c.442G>A, NM_001354351.1:c.442G>C, NM_001354351.1:c.442G>A, NM_001376318.2:c.829G>C, NM_001376318.2:c.829G>A, NM_001376318.1:c.829G>C, NM_001376318.1:c.829G>A, NM_001376324.2:c.829G>C, NM_001376324.2:c.829G>A, NM_001376324.1:c.829G>C, NM_001376324.1:c.829G>A, NM_001376319.2:c.829G>C, NM_001376319.2:c.829G>A, NM_001376319.1:c.829G>C, NM_001376319.1:c.829G>A, NM_001376329.2:c.373G>C, NM_001376329.2:c.373G>A, NM_001376329.1:c.373G>C, NM_001376329.1:c.373G>A, NM_001354350.2:c.373G>C, NM_001354350.2:c.373G>A, NM_001354350.1:c.373G>C, NM_001354350.1:c.373G>A, NM_001376310.2:c.829G>C, NM_001376310.2:c.829G>A, NM_001376310.1:c.829G>C, NM_001376310.1:c.829G>A, NM_001376307.2:c.829G>C, NM_001376307.2:c.829G>A, NM_001376307.1:c.829G>C, NM_001376307.1:c.829G>A, NM_001376306.2:c.976G>C, NM_001376306.2:c.976G>A, NM_001376306.1:c.976G>C, NM_001376306.1:c.976G>A, NM_001376311.2:c.829G>C, NM_001376311.2:c.829G>A, NM_001376311.1:c.829G>C, NM_001376311.1:c.829G>A, NM_001376308.2:c.829G>C, NM_001376308.2:c.829G>A, NM_001376308.1:c.829G>C, NM_001376308.1:c.829G>A, NR_164805.2:n.1170G>C, NR_164805.2:n.1170G>A, NR_164805.1:n.1170G>C, NR_164805.1:n.1170G>A, NM_001376309.2:c.829G>C, NM_001376309.2:c.829G>A, NM_001376309.1:c.829G>C, NM_001376309.1:c.829G>A, NM_001354354.2:c.829G>C, NM_001354354.2:c.829G>A, NM_001354354.1:c.829G>C, NM_001354354.1:c.829G>A, NM_001376314.2:c.829G>C, NM_001376314.2:c.829G>A, NM_001376314.1:c.829G>C, NM_001376314.1:c.829G>A, XM_024453145.2:c.880G>C, XM_024453145.2:c.880G>A, XM_024453145.1:c.880G>C, XM_024453145.1:c.880G>A, NM_001376322.2:c.829G>C, NM_001376322.2:c.829G>A, NM_001376322.1:c.829G>C, NM_001376322.1:c.829G>A, NM_001376317.2:c.976G>C, NM_001376317.2:c.976G>A, NM_001376317.1:c.976G>C, NM_001376317.1:c.976G>A, NM_001376312.2:c.829G>C, NM_001376312.2:c.829G>A, NM_001376312.1:c.829G>C, NM_001376312.1:c.829G>A, NM_001376316.2:c.829G>C, NM_001376316.2:c.829G>A, NM_001376316.1:c.829G>C, NM_001376316.1:c.829G>A, NR_164799.2:n.1288G>C, NR_164799.2:n.1288G>A, NR_164799.1:n.1288G>C, NR_164799.1:n.1288G>A, NM_001354360.2:c.829G>C, NM_001354360.2:c.829G>A, NM_001354360.1:c.829G>C, NM_001354360.1:c.829G>A, NR_164803.2:n.1170G>C, NR_164803.2:n.1170G>A, NR_164803.1:n.1170G>C, NR_164803.1:n.1170G>A, NR_164806.2:n.1134G>C, NR_164806.2:n.1134G>A, NR_164806.1:n.1134G>C, NR_164806.1:n.1134G>A, NM_001376313.2:c.829G>C, NM_001376313.2:c.829G>A, NM_001376313.1:c.829G>C, NM_001376313.1:c.829G>A, NR_148872.2:n.1062G>C, NR_148872.2:n.1062G>A, NR_148872.1:n.1062G>C, NR_148872.1:n.1062G>A, NR_164801.2:n.1053G>C, NR_164801.2:n.1053G>A, NR_164801.1:n.1053G>C, NR_164801.1:n.1053G>A, NM_001376320.2:c.829G>C, NM_001376320.2:c.829G>A, NM_001376320.1:c.829G>C, NM_001376320.1:c.829G>A, NR_164802.2:n.1170G>C, NR_164802.2:n.1170G>A, NR_164802.1:n.1170G>C, NR_164802.1:n.1170G>A, NM_001376321.2:c.829G>C, NM_001376321.2:c.829G>A, NM_001376321.1:c.829G>C, NM_001376321.1:c.829G>A, NM_001376323.2:c.829G>C, NM_001376323.2:c.829G>A, NM_001376323.1:c.829G>C, NM_001376323.1:c.829G>A, NR_164800.2:n.1113G>C, NR_164800.2:n.1113G>A, NR_164800.1:n.1113G>C, NR_164800.1:n.1113G>A, NR_164804.2:n.1053G>C, NR_164804.2:n.1053G>A, NR_164804.1:n.1053G>C, NR_164804.1:n.1053G>A, NM_001354356.2:c.829G>C, NM_001354356.2:c.829G>A, NM_001354356.1:c.829G>C, NM_001354356.1:c.829G>A, NM_001284235.2:c.829G>C, NM_001284235.2:c.829G>A, NM_001284235.1:c.829G>C, NM_001284235.1:c.829G>A, XM_047445844.1:c.1003G>C, XM_047445844.1:c.1003G>A, XM_047445845.1:c.880G>C, XM_047445845.1:c.880G>A, XM_047445842.1:c.1003G>C, XM_047445842.1:c.1003G>A, XM_047445843.1:c.1003G>C, XM_047445843.1:c.1003G>A, XM_047445841.1:c.1003G>C, XM_047445841.1:c.1003G>A, XM_047445846.1:c.589G>C, XM_047445846.1:c.589G>A, XM_047445847.1:c.313G>C, XM_047445847.1:c.313G>A, NM_001376330.1:c.829G>C, NM_001376330.1:c.829G>A, NM_001354361.1:c.829G>C, NM_001354361.1:c.829G>A, NM_001354358.1:c.829G>C, NM_001354358.1:c.829G>A, NP_078935.2:p.Val277Leu, NP_078935.2:p.Val277Ile, NP_001158101.1:p.Val277Leu, NP_001158101.1:p.Val277Ile, NP_001006637.1:p.Val277Leu, NP_001006637.1:p.Val277Ile, XP_011510157.1:p.Val326Leu, XP_011510157.1:p.Val326Ile, XP_011510158.1:p.Val294Leu, XP_011510158.1:p.Val294Ile, NP_001271162.1:p.Val277Leu, NP_001271162.1:p.Val277Ile, NP_001341284.1:p.Val125Leu, NP_001341284.1:p.Val125Ile, NP_001271167.1:p.Val245Leu, NP_001271167.1:p.Val245Ile, NP_001271163.1:p.Val148Leu, NP_001271163.1:p.Val148Ile, NP_001363244.1:p.Val277Leu, NP_001363244.1:p.Val277Ile, NP_001341280.1:p.Val148Leu, NP_001341280.1:p.Val148Ile, NP_001363247.1:p.Val277Leu, NP_001363247.1:p.Val277Ile, NP_001363253.1:p.Val277Leu, NP_001363253.1:p.Val277Ile, NP_001363248.1:p.Val277Leu, NP_001363248.1:p.Val277Ile, NP_001363258.1:p.Val125Leu, NP_001363258.1:p.Val125Ile, NP_001341279.1:p.Val125Leu, NP_001341279.1:p.Val125Ile, NP_001363239.1:p.Val277Leu, NP_001363239.1:p.Val277Ile, NP_001363236.1:p.Val277Leu, NP_001363236.1:p.Val277Ile, NP_001363235.1:p.Val326Leu, NP_001363235.1:p.Val326Ile, NP_001363240.1:p.Val277Leu, NP_001363240.1:p.Val277Ile, NP_001363237.1:p.Val277Leu, NP_001363237.1:p.Val277Ile, NP_001363238.1:p.Val277Leu, NP_001363238.1:p.Val277Ile, NP_001341283.1:p.Val277Leu, NP_001341283.1:p.Val277Ile, NP_001363243.1:p.Val277Leu, NP_001363243.1:p.Val277Ile, XP_024308913.1:p.Val294Leu, XP_024308913.1:p.Val294Ile, NP_001363251.1:p.Val277Leu, NP_001363251.1:p.Val277Ile, NP_001363246.1:p.Val326Leu, NP_001363246.1:p.Val326Ile, NP_001363241.1:p.Val277Leu, NP_001363241.1:p.Val277Ile, NP_001363245.1:p.Val277Leu, NP_001363245.1:p.Val277Ile, NP_001341289.1:p.Val277Leu, NP_001341289.1:p.Val277Ile, NP_001363242.1:p.Val277Leu, NP_001363242.1:p.Val277Ile, NP_001363249.1:p.Val277Leu, NP_001363249.1:p.Val277Ile, NP_001363250.1:p.Val277Leu, NP_001363250.1:p.Val277Ile, NP_001363252.1:p.Val277Leu, NP_001363252.1:p.Val277Ile, NP_001341285.1:p.Val277Leu, NP_001341285.1:p.Val277Ile, NP_001271164.1:p.Val277Leu, NP_001271164.1:p.Val277Ile, XP_047301800.1:p.Val335Leu, XP_047301800.1:p.Val335Ile, XP_047301801.1:p.Val294Leu, XP_047301801.1:p.Val294Ile, XP_047301798.1:p.Val335Leu, XP_047301798.1:p.Val335Ile, XP_047301799.1:p.Val335Leu, XP_047301799.1:p.Val335Ile, XP_047301797.1:p.Val335Leu, XP_047301797.1:p.Val335Ile, XP_047301802.1:p.Val197Leu, XP_047301802.1:p.Val197Ile, XP_047301803.1:p.Val105Leu, XP_047301803.1:p.Val105Ile, NP_001363259.1:p.Val277Leu, NP_001363259.1:p.Val277Ile, NP_001341290.1:p.Val277Leu, NP_001341290.1:p.Val277Ile, NP_001341287.1:p.Val277Leu, NP_001341287.1:p.Val277Ile

                                  17.

                                  rs1441920607 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    2:144208611 (GRCh38)
                                    2:144966178 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:144208610:C:A
                                    Gene:
                                    GTDC1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.144208611C>A, NC_000002.11:g.144966178C>A, NM_024659.6:c.171G>T, NM_024659.5:c.171G>T, NM_024659.4:c.171G>T, NM_001164629.5:c.171G>T, NM_001164629.4:c.171G>T, NM_001164629.3:c.171G>T, NM_001164629.2:c.171G>T, NM_001006636.5:c.171G>T, NM_001006636.4:c.171G>T, NM_001006636.3:c.171G>T, XM_011511855.4:c.171G>T, XM_011511855.3:c.171G>T, XM_011511855.2:c.171G>T, XM_011511855.1:c.171G>T, XM_011511856.4:c.-32G>T, XM_011511856.3:c.-32G>T, XM_011511856.2:c.-32G>T, XM_011511856.1:c.-32G>T, NM_001284233.4:c.171G>T, NM_001284233.3:c.171G>T, NM_001284233.2:c.171G>T, NM_001284233.1:c.171G>T, NM_001354355.3:c.-550G>T, NM_001354355.2:c.-550G>T, NM_001354355.1:c.-550G>T, NM_001284238.3:c.-158G>T, NM_001284238.2:c.-158G>T, NM_001284238.1:c.-158G>T, NM_001354362.3:c.171G>T, NM_001354362.2:c.171G>T, NM_001354362.1:c.171G>T, NR_164809.2:n.997G>T, NR_164809.1:n.997G>T, NM_001376315.2:c.171G>T, NM_001376315.1:c.171G>T, NM_001354351.2:c.-343G>T, NM_001354351.1:c.-343G>T, NM_001376318.2:c.171G>T, NM_001376318.1:c.171G>T, NM_001376324.2:c.171G>T, NM_001376324.1:c.171G>T, NM_001376319.2:c.171G>T, NM_001376319.1:c.171G>T, NM_001376329.2:c.-654G>T, NM_001376329.1:c.-654G>T, NM_001354350.2:c.-557G>T, NM_001354350.1:c.-557G>T, NM_001376310.2:c.171G>T, NM_001376310.1:c.171G>T, NM_001376307.2:c.171G>T, NM_001376307.1:c.171G>T, NM_001376306.2:c.171G>T, NM_001376306.1:c.171G>T, NM_001376311.2:c.171G>T, NM_001376311.1:c.171G>T, NM_001354352.2:c.171G>T, NM_001354352.1:c.171G>T, NM_001376308.2:c.171G>T, NM_001376308.1:c.171G>T, NR_164805.2:n.395G>T, NR_164805.1:n.395G>T, NM_001376309.2:c.171G>T, NM_001376309.1:c.171G>T, NM_001354354.2:c.171G>T, NM_001354354.1:c.171G>T, NM_001376314.2:c.171G>T, NM_001376314.1:c.171G>T, XM_024453145.2:c.-158G>T, XM_024453145.1:c.-158G>T, NM_001376322.2:c.171G>T, NM_001376322.1:c.171G>T, NM_001376317.2:c.171G>T, NM_001376317.1:c.171G>T, NM_001376312.2:c.171G>T, NM_001376312.1:c.171G>T, NM_001376316.2:c.171G>T, NM_001376316.1:c.171G>T, NR_164799.2:n.513G>T, NR_164799.1:n.513G>T, NM_001354360.2:c.171G>T, NM_001354360.1:c.171G>T, NR_164803.2:n.395G>T, NR_164803.1:n.395G>T, NR_164806.2:n.476G>T, NR_164806.1:n.476G>T, NM_001376313.2:c.171G>T, NM_001376313.1:c.171G>T, NR_148872.2:n.404G>T, NR_148872.1:n.404G>T, NR_164808.2:n.395G>T, NR_164808.1:n.395G>T, NR_164801.2:n.395G>T, NR_164801.1:n.395G>T, NM_001376320.2:c.171G>T, NM_001376320.1:c.171G>T, NR_164802.2:n.395G>T, NR_164802.1:n.395G>T, NM_001376321.2:c.171G>T, NM_001376321.1:c.171G>T, NR_164807.2:n.395G>T, NR_164807.1:n.395G>T, NM_001376323.2:c.171G>T, NM_001376323.1:c.171G>T, NR_164800.2:n.451G>T, NR_164800.1:n.451G>T, NM_001376326.2:c.171G>T, NM_001376326.1:c.171G>T, NM_001376325.2:c.171G>T, NM_001376325.1:c.171G>T, NR_164804.2:n.395G>T, NR_164804.1:n.395G>T, NM_001376327.2:c.171G>T, NM_001376327.1:c.171G>T, NM_001354353.2:c.171G>T, NM_001354353.1:c.171G>T, NM_001376331.2:c.171G>T, NM_001376331.1:c.171G>T, NM_001376332.2:c.171G>T, NM_001376332.1:c.171G>T, NM_001354356.2:c.171G>T, NM_001354356.1:c.171G>T, NM_001284235.2:c.171G>T, NM_001284235.1:c.171G>T, XM_047445844.1:c.198G>T, XM_047445842.1:c.198G>T, XM_047445843.1:c.198G>T, XM_047445841.1:c.198G>T, NM_001376330.1:c.171G>T, NM_001354361.1:c.171G>T, NM_001354358.1:c.171G>T, NM_001376328.1:c.171G>T, NP_078935.2:p.Glu57Asp, NP_001158101.1:p.Glu57Asp, NP_001006637.1:p.Glu57Asp, XP_011510157.1:p.Glu57Asp, NP_001271162.1:p.Glu57Asp, NP_001341291.1:p.Glu57Asp, NP_001363244.1:p.Glu57Asp, NP_001363247.1:p.Glu57Asp, NP_001363253.1:p.Glu57Asp, NP_001363248.1:p.Glu57Asp, NP_001363239.1:p.Glu57Asp, NP_001363236.1:p.Glu57Asp, NP_001363235.1:p.Glu57Asp, NP_001363240.1:p.Glu57Asp, NP_001341281.1:p.Glu57Asp, NP_001363237.1:p.Glu57Asp, NP_001363238.1:p.Glu57Asp, NP_001341283.1:p.Glu57Asp, NP_001363243.1:p.Glu57Asp, NP_001363251.1:p.Glu57Asp, NP_001363246.1:p.Glu57Asp, NP_001363241.1:p.Glu57Asp, NP_001363245.1:p.Glu57Asp, NP_001341289.1:p.Glu57Asp, NP_001363242.1:p.Glu57Asp, NP_001363249.1:p.Glu57Asp, NP_001363250.1:p.Glu57Asp, NP_001363252.1:p.Glu57Asp, NP_001363255.1:p.Glu57Asp, NP_001363254.1:p.Glu57Asp, NP_001363256.1:p.Glu57Asp, NP_001341282.1:p.Glu57Asp, NP_001363260.1:p.Glu57Asp, NP_001363261.1:p.Glu57Asp, NP_001341285.1:p.Glu57Asp, NP_001271164.1:p.Glu57Asp, XP_047301800.1:p.Glu66Asp, XP_047301798.1:p.Glu66Asp, XP_047301799.1:p.Glu66Asp, XP_047301797.1:p.Glu66Asp, NP_001363259.1:p.Glu57Asp, NP_001341290.1:p.Glu57Asp, NP_001341287.1:p.Glu57Asp, NP_001363257.1:p.Glu57Asp

                                    18.

                                    rs1441001238 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:144141986 (GRCh38)
                                      2:144899553 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:144141985:T:C
                                      Gene:
                                      GTDC1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000142/2 (ALFA)
                                      C=0.000019/5 (TOPMED)
                                      C=0.000029/4 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.144141986T>C, NC_000002.11:g.144899553T>C, NM_024659.6:c.417A>G, NM_024659.5:c.417A>G, NM_024659.4:c.417A>G, NM_001164629.5:c.417A>G, NM_001164629.4:c.417A>G, NM_001164629.3:c.417A>G, NM_001164629.2:c.417A>G, NM_001006636.5:c.417A>G, NM_001006636.4:c.417A>G, NM_001006636.3:c.417A>G, XM_011511855.4:c.417A>G, XM_011511855.3:c.417A>G, XM_011511855.2:c.417A>G, XM_011511855.1:c.417A>G, XM_011511856.4:c.321A>G, XM_011511856.3:c.321A>G, XM_011511856.2:c.321A>G, XM_011511856.1:c.321A>G, NM_001284233.4:c.417A>G, NM_001284233.3:c.417A>G, NM_001284233.2:c.417A>G, NM_001284233.1:c.417A>G, NM_001354355.3:c.-304A>G, NM_001354355.2:c.-304A>G, NM_001354355.1:c.-304A>G, NM_001284238.3:c.321A>G, NM_001284238.2:c.321A>G, NM_001284238.1:c.321A>G, NM_001354362.3:c.417A>G, NM_001354362.2:c.417A>G, NM_001354362.1:c.417A>G, NM_001284234.3:c.30A>G, NM_001284234.2:c.30A>G, NM_001284234.1:c.30A>G, NR_164809.2:n.1243A>G, NR_164809.1:n.1243A>G, NM_001376315.2:c.417A>G, NM_001376315.1:c.417A>G, NM_001354351.2:c.30A>G, NM_001354351.1:c.30A>G, NM_001376318.2:c.417A>G, NM_001376318.1:c.417A>G, NM_001376324.2:c.417A>G, NM_001376324.1:c.417A>G, NM_001376319.2:c.417A>G, NM_001376319.1:c.417A>G, NM_001376329.2:c.-408A>G, NM_001376329.1:c.-408A>G, NM_001354350.2:c.-311A>G, NM_001354350.1:c.-311A>G, NM_001376310.2:c.417A>G, NM_001376310.1:c.417A>G, NM_001376307.2:c.417A>G, NM_001376307.1:c.417A>G, NM_001376306.2:c.417A>G, NM_001376306.1:c.417A>G, NM_001376311.2:c.417A>G, NM_001376311.1:c.417A>G, NM_001354352.2:c.417A>G, NM_001354352.1:c.417A>G, NM_001376308.2:c.417A>G, NM_001376308.1:c.417A>G, NR_164805.2:n.641A>G, NR_164805.1:n.641A>G, NM_001376309.2:c.417A>G, NM_001376309.1:c.417A>G, NM_001354354.2:c.417A>G, NM_001354354.1:c.417A>G, NM_001376314.2:c.417A>G, NM_001376314.1:c.417A>G, XM_024453145.2:c.321A>G, XM_024453145.1:c.321A>G, NM_001376322.2:c.417A>G, NM_001376322.1:c.417A>G, NM_001376317.2:c.417A>G, NM_001376317.1:c.417A>G, NM_001376312.2:c.417A>G, NM_001376312.1:c.417A>G, NM_001376316.2:c.417A>G, NM_001376316.1:c.417A>G, NR_164799.2:n.759A>G, NR_164799.1:n.759A>G, NM_001354360.2:c.417A>G, NM_001354360.1:c.417A>G, NR_164803.2:n.641A>G, NR_164803.1:n.641A>G, NR_164806.2:n.722A>G, NR_164806.1:n.722A>G, NM_001376313.2:c.417A>G, NM_001376313.1:c.417A>G, NR_148872.2:n.650A>G, NR_148872.1:n.650A>G, NR_164808.2:n.641A>G, NR_164808.1:n.641A>G, NR_164801.2:n.641A>G, NR_164801.1:n.641A>G, NM_001376320.2:c.417A>G, NM_001376320.1:c.417A>G, NR_164802.2:n.641A>G, NR_164802.1:n.641A>G, NM_001376321.2:c.417A>G, NM_001376321.1:c.417A>G, NR_164807.2:n.641A>G, NR_164807.1:n.641A>G, NM_001376323.2:c.417A>G, NM_001376323.1:c.417A>G, NR_164800.2:n.701A>G, NR_164800.1:n.701A>G, NM_001376326.2:c.417A>G, NM_001376326.1:c.417A>G, NM_001376325.2:c.417A>G, NM_001376325.1:c.417A>G, NR_164804.2:n.641A>G, NR_164804.1:n.641A>G, NM_001376327.2:c.417A>G, NM_001376327.1:c.417A>G, NM_001354353.2:c.417A>G, NM_001354353.1:c.417A>G, NM_001376331.2:c.417A>G, NM_001376331.1:c.417A>G, NM_001376332.2:c.417A>G, NM_001376332.1:c.417A>G, NM_001354356.2:c.417A>G, NM_001354356.1:c.417A>G, NM_001284235.2:c.417A>G, NM_001284235.1:c.417A>G, XM_047445844.1:c.444A>G, XM_047445845.1:c.321A>G, XM_047445842.1:c.444A>G, XM_047445843.1:c.444A>G, XM_047445841.1:c.444A>G, XM_047445846.1:c.30A>G, NM_001376330.1:c.417A>G, NM_001354361.1:c.417A>G, NM_001354358.1:c.417A>G, NM_001376328.1:c.417A>G

                                      19.

                                      rs1436333381 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GACA>- [Show Flanks]
                                        Chromosome:
                                        2:144007196 (GRCh38)
                                        2:144764763 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:144007193:CAGACA:CA
                                        Gene:
                                        GTDC1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.144007196_144007199del, NC_000002.11:g.144764763_144764766del, NM_024659.6:c.860_863del, NM_024659.5:c.860_863del, NM_024659.4:c.860_863del, NM_001164629.5:c.860_863del, NM_001164629.4:c.860_863del, NM_001164629.3:c.860_863del, NM_001164629.2:c.860_863del, NM_001006636.5:c.860_863del, NM_001006636.4:c.860_863del, NM_001006636.3:c.860_863del, XM_011511855.4:c.1007_1010del, XM_011511855.3:c.1007_1010del, XM_011511855.2:c.1007_1010del, XM_011511855.1:c.1007_1010del, XM_011511856.4:c.911_914del, XM_011511856.3:c.911_914del, XM_011511856.2:c.911_914del, XM_011511856.1:c.911_914del, NM_001284233.4:c.860_863del, NM_001284233.3:c.860_863del, NM_001284233.2:c.860_863del, NM_001284233.1:c.860_863del, NM_001354355.3:c.404_407del, NM_001354355.2:c.404_407del, NM_001354355.1:c.404_407del, NM_001284238.3:c.764_767del, NM_001284238.2:c.764_767del, NM_001284238.1:c.764_767del, NM_001284234.3:c.473_476del, NM_001284234.2:c.473_476del, NM_001284234.1:c.473_476del, NR_164809.2:n.1833_1836del, NR_164809.1:n.1833_1836del, NM_001376315.2:c.860_863del, NM_001376315.1:c.860_863del, NM_001354351.2:c.473_476del, NM_001354351.1:c.473_476del, NM_001376318.2:c.860_863del, NM_001376318.1:c.860_863del, NM_001376324.2:c.860_863del, NM_001376324.1:c.860_863del, NM_001376319.2:c.860_863del, NM_001376319.1:c.860_863del, NM_001376329.2:c.404_407del, NM_001376329.1:c.404_407del, NM_001354350.2:c.404_407del, NM_001354350.1:c.404_407del, NM_001376310.2:c.860_863del, NM_001376310.1:c.860_863del, NM_001376307.2:c.860_863del, NM_001376307.1:c.860_863del, NM_001376306.2:c.1007_1010del, NM_001376306.1:c.1007_1010del, NM_001376311.2:c.860_863del, NM_001376311.1:c.860_863del, NM_001376308.2:c.860_863del, NM_001376308.1:c.860_863del, NR_164805.2:n.1201_1204del, NR_164805.1:n.1201_1204del, NM_001376309.2:c.860_863del, NM_001376309.1:c.860_863del, NM_001354354.2:c.860_863del, NM_001354354.1:c.860_863del, NM_001376314.2:c.860_863del, NM_001376314.1:c.860_863del, XM_024453145.2:c.911_914del, XM_024453145.1:c.911_914del, NM_001376322.2:c.860_863del, NM_001376322.1:c.860_863del, NM_001376317.2:c.1007_1010del, NM_001376317.1:c.1007_1010del, NM_001376312.2:c.860_863del, NM_001376312.1:c.860_863del, NM_001376316.2:c.860_863del, NM_001376316.1:c.860_863del, NR_164799.2:n.1319_1322del, NR_164799.1:n.1319_1322del, NM_001354360.2:c.860_863del, NM_001354360.1:c.860_863del, NR_164803.2:n.1201_1204del, NR_164803.1:n.1201_1204del, NR_164806.2:n.1165_1168del, NR_164806.1:n.1165_1168del, NM_001376313.2:c.860_863del, NM_001376313.1:c.860_863del, NR_148872.2:n.1093_1096del, NR_148872.1:n.1093_1096del, NR_164801.2:n.1084_1087del, NR_164801.1:n.1084_1087del, NM_001376320.2:c.860_863del, NM_001376320.1:c.860_863del, NR_164802.2:n.1201_1204del, NR_164802.1:n.1201_1204del, NM_001376321.2:c.860_863del, NM_001376321.1:c.860_863del, NM_001376323.2:c.860_863del, NM_001376323.1:c.860_863del, NR_164800.2:n.1144_1147del, NR_164800.1:n.1144_1147del, NR_164804.2:n.1084_1087del, NR_164804.1:n.1084_1087del, NM_001354356.2:c.860_863del, NM_001354356.1:c.860_863del, NM_001284235.2:c.860_863del, NM_001284235.1:c.860_863del, XM_047445844.1:c.1034_1037del, XM_047445845.1:c.911_914del, XM_047445842.1:c.1034_1037del, XM_047445843.1:c.1034_1037del, XM_047445841.1:c.1034_1037del, XM_047445846.1:c.620_623del, XM_047445847.1:c.344_347del, NM_001376330.1:c.860_863del, NM_001354361.1:c.860_863del, NM_001354358.1:c.860_863del, NP_078935.2:p.Val287fs, NP_001158101.1:p.Val287fs, NP_001006637.1:p.Val287fs, XP_011510157.1:p.Val336fs, XP_011510158.1:p.Val304fs, NP_001271162.1:p.Val287fs, NP_001341284.1:p.Val135fs, NP_001271167.1:p.Val255fs, NP_001271163.1:p.Val158fs, NP_001363244.1:p.Val287fs, NP_001341280.1:p.Val158fs, NP_001363247.1:p.Val287fs, NP_001363253.1:p.Val287fs, NP_001363248.1:p.Val287fs, NP_001363258.1:p.Val135fs, NP_001341279.1:p.Val135fs, NP_001363239.1:p.Val287fs, NP_001363236.1:p.Val287fs, NP_001363235.1:p.Val336fs, NP_001363240.1:p.Val287fs, NP_001363237.1:p.Val287fs, NP_001363238.1:p.Val287fs, NP_001341283.1:p.Val287fs, NP_001363243.1:p.Val287fs, XP_024308913.1:p.Val304fs, NP_001363251.1:p.Val287fs, NP_001363246.1:p.Val336fs, NP_001363241.1:p.Val287fs, NP_001363245.1:p.Val287fs, NP_001341289.1:p.Val287fs, NP_001363242.1:p.Val287fs, NP_001363249.1:p.Val287fs, NP_001363250.1:p.Val287fs, NP_001363252.1:p.Val287fs, NP_001341285.1:p.Val287fs, NP_001271164.1:p.Val287fs, XP_047301800.1:p.Val345fs, XP_047301801.1:p.Val304fs, XP_047301798.1:p.Val345fs, XP_047301799.1:p.Val345fs, XP_047301797.1:p.Val345fs, XP_047301802.1:p.Val207fs, XP_047301803.1:p.Val115fs, NP_001363259.1:p.Val287fs, NP_001341290.1:p.Val287fs, NP_001341287.1:p.Val287fs

                                        20.

                                        rs1424207167 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:144007358 (GRCh38)
                                          2:144764925 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:144007357:T:C
                                          Gene:
                                          GTDC1 (Varview)
                                          Functional Consequence:
                                          intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.144007358T>C, NC_000002.11:g.144764925T>C, NM_024659.6:c.699A>G, NM_024659.5:c.699A>G, NM_024659.4:c.699A>G, NM_001164629.5:c.699A>G, NM_001164629.4:c.699A>G, NM_001164629.3:c.699A>G, NM_001164629.2:c.699A>G, NM_001006636.5:c.699A>G, NM_001006636.4:c.699A>G, NM_001006636.3:c.699A>G, XM_011511855.4:c.846A>G, XM_011511855.3:c.846A>G, XM_011511855.2:c.846A>G, XM_011511855.1:c.846A>G, XM_011511856.4:c.750A>G, XM_011511856.3:c.750A>G, XM_011511856.2:c.750A>G, XM_011511856.1:c.750A>G, NM_001284233.4:c.699A>G, NM_001284233.3:c.699A>G, NM_001284233.2:c.699A>G, NM_001284233.1:c.699A>G, NM_001354355.3:c.243A>G, NM_001354355.2:c.243A>G, NM_001354355.1:c.243A>G, NM_001284238.3:c.603A>G, NM_001284238.2:c.603A>G, NM_001284238.1:c.603A>G, NM_001284234.3:c.312A>G, NM_001284234.2:c.312A>G, NM_001284234.1:c.312A>G, NR_164809.2:n.1672A>G, NR_164809.1:n.1672A>G, NM_001376315.2:c.699A>G, NM_001376315.1:c.699A>G, NM_001354351.2:c.312A>G, NM_001354351.1:c.312A>G, NM_001376318.2:c.699A>G, NM_001376318.1:c.699A>G, NM_001376324.2:c.699A>G, NM_001376324.1:c.699A>G, NM_001376319.2:c.699A>G, NM_001376319.1:c.699A>G, NM_001376329.2:c.243A>G, NM_001376329.1:c.243A>G, NM_001354350.2:c.243A>G, NM_001354350.1:c.243A>G, NM_001376310.2:c.699A>G, NM_001376310.1:c.699A>G, NM_001376307.2:c.699A>G, NM_001376307.1:c.699A>G, NM_001376306.2:c.846A>G, NM_001376306.1:c.846A>G, NM_001376311.2:c.699A>G, NM_001376311.1:c.699A>G, NM_001376308.2:c.699A>G, NM_001376308.1:c.699A>G, NR_164805.2:n.1040A>G, NR_164805.1:n.1040A>G, NM_001376309.2:c.699A>G, NM_001376309.1:c.699A>G, NM_001354354.2:c.699A>G, NM_001354354.1:c.699A>G, NM_001376314.2:c.699A>G, NM_001376314.1:c.699A>G, XM_024453145.2:c.750A>G, XM_024453145.1:c.750A>G, NM_001376322.2:c.699A>G, NM_001376322.1:c.699A>G, NM_001376317.2:c.846A>G, NM_001376317.1:c.846A>G, NM_001376312.2:c.699A>G, NM_001376312.1:c.699A>G, NM_001376316.2:c.699A>G, NM_001376316.1:c.699A>G, NR_164799.2:n.1158A>G, NR_164799.1:n.1158A>G, NM_001354360.2:c.699A>G, NM_001354360.1:c.699A>G, NR_164803.2:n.1040A>G, NR_164803.1:n.1040A>G, NR_164806.2:n.1004A>G, NR_164806.1:n.1004A>G, NM_001376313.2:c.699A>G, NM_001376313.1:c.699A>G, NR_148872.2:n.932A>G, NR_148872.1:n.932A>G, NR_164801.2:n.923A>G, NR_164801.1:n.923A>G, NM_001376320.2:c.699A>G, NM_001376320.1:c.699A>G, NR_164802.2:n.1040A>G, NR_164802.1:n.1040A>G, NM_001376321.2:c.699A>G, NM_001376321.1:c.699A>G, NM_001376323.2:c.699A>G, NM_001376323.1:c.699A>G, NR_164800.2:n.983A>G, NR_164800.1:n.983A>G, NR_164804.2:n.923A>G, NR_164804.1:n.923A>G, NM_001354356.2:c.699A>G, NM_001354356.1:c.699A>G, NM_001284235.2:c.699A>G, NM_001284235.1:c.699A>G, XM_047445844.1:c.873A>G, XM_047445845.1:c.750A>G, XM_047445842.1:c.873A>G, XM_047445843.1:c.873A>G, XM_047445841.1:c.873A>G, XM_047445846.1:c.459A>G, XM_047445847.1:c.183A>G, NM_001376330.1:c.699A>G, NM_001354361.1:c.699A>G, NM_001354358.1:c.699A>G

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