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1.

rs1490905322 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    11:108293391 (GRCh38)
    11:108164118 (GRCh37)
    Canonical SPDI:
    NC_000011.10:108293390:C:A,NC_000011.10:108293390:C:G,NC_000011.10:108293390:C:T
    Gene:
    ATM (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.108293391C>A, NC_000011.10:g.108293391C>G, NC_000011.10:g.108293391C>T, NC_000011.9:g.108164118C>A, NC_000011.9:g.108164118C>G, NC_000011.9:g.108164118C>T, NG_009830.1:g.75560C>A, NG_009830.1:g.75560C>G, NG_009830.1:g.75560C>T, NM_000051.4:c.4690C>A, NM_000051.4:c.4690C>G, NM_000051.4:c.4690C>T, NM_000051.3:c.4690C>A, NM_000051.3:c.4690C>G, NM_000051.3:c.4690C>T, NM_001351834.2:c.4690C>A, NM_001351834.2:c.4690C>G, NM_001351834.2:c.4690C>T, NM_001351834.1:c.4690C>A, NM_001351834.1:c.4690C>G, NM_001351834.1:c.4690C>T, XM_005271562.6:c.4690C>A, XM_005271562.6:c.4690C>G, XM_005271562.6:c.4690C>T, XM_005271562.5:c.4690C>A, XM_005271562.5:c.4690C>G, XM_005271562.5:c.4690C>T, XM_005271562.4:c.4690C>A, XM_005271562.4:c.4690C>G, XM_005271562.4:c.4690C>T, XM_005271562.3:c.4690C>A, XM_005271562.3:c.4690C>G, XM_005271562.3:c.4690C>T, XM_005271562.2:c.4690C>A, XM_005271562.2:c.4690C>G, XM_005271562.2:c.4690C>T, XM_005271562.1:c.4690C>A, XM_005271562.1:c.4690C>G, XM_005271562.1:c.4690C>T, XM_006718843.5:c.4690C>A, XM_006718843.5:c.4690C>G, XM_006718843.5:c.4690C>T, XM_006718843.4:c.4690C>A, XM_006718843.4:c.4690C>G, XM_006718843.4:c.4690C>T, XM_006718843.3:c.4690C>A, XM_006718843.3:c.4690C>G, XM_006718843.3:c.4690C>T, XM_006718843.2:c.4690C>A, XM_006718843.2:c.4690C>G, XM_006718843.2:c.4690C>T, XM_006718843.1:c.4690C>A, XM_006718843.1:c.4690C>G, XM_006718843.1:c.4690C>T, XM_011542840.4:c.4690C>A, XM_011542840.4:c.4690C>G, XM_011542840.4:c.4690C>T, XM_011542840.3:c.4690C>A, XM_011542840.3:c.4690C>G, XM_011542840.3:c.4690C>T, XM_011542840.2:c.4690C>A, XM_011542840.2:c.4690C>G, XM_011542840.2:c.4690C>T, XM_011542840.1:c.4690C>A, XM_011542840.1:c.4690C>G, XM_011542840.1:c.4690C>T, XM_011542842.4:c.4525C>A, XM_011542842.4:c.4525C>G, XM_011542842.4:c.4525C>T, XM_011542842.3:c.4525C>A, XM_011542842.3:c.4525C>G, XM_011542842.3:c.4525C>T, XM_011542842.2:c.4525C>A, XM_011542842.2:c.4525C>G, XM_011542842.2:c.4525C>T, XM_011542842.1:c.4525C>A, XM_011542842.1:c.4525C>G, XM_011542842.1:c.4525C>T, XM_011542844.4:c.3646C>A, XM_011542844.4:c.3646C>G, XM_011542844.4:c.3646C>T, XM_011542844.3:c.3646C>A, XM_011542844.3:c.3646C>G, XM_011542844.3:c.3646C>T, XM_011542844.2:c.3646C>A, XM_011542844.2:c.3646C>G, XM_011542844.2:c.3646C>T, XM_011542844.1:c.3646C>A, XM_011542844.1:c.3646C>G, XM_011542844.1:c.3646C>T, XM_017017790.3:c.4690C>A, XM_017017790.3:c.4690C>G, XM_017017790.3:c.4690C>T, XM_017017790.2:c.4690C>A, XM_017017790.2:c.4690C>G, XM_017017790.2:c.4690C>T, XM_017017790.1:c.4690C>A, XM_017017790.1:c.4690C>G, XM_017017790.1:c.4690C>T, NM_138292.3:c.646C>A, NM_138292.3:c.646C>G, NM_138292.3:c.646C>T, XM_011542843.3:c.4690C>A, XM_011542843.3:c.4690C>G, XM_011542843.3:c.4690C>T, XM_011542843.2:c.4690C>A, XM_011542843.2:c.4690C>G, XM_011542843.2:c.4690C>T, XM_011542843.1:c.4690C>A, XM_011542843.1:c.4690C>G, XM_011542843.1:c.4690C>T, XM_006718845.3:c.646C>A, XM_006718845.3:c.646C>G, XM_006718845.3:c.646C>T, XM_006718845.2:c.646C>A, XM_006718845.2:c.646C>G, XM_006718845.2:c.646C>T, XM_006718845.1:c.646C>A, XM_006718845.1:c.646C>G, XM_006718845.1:c.646C>T, NM_138292.2:c.646C>A, NM_138292.2:c.646C>G, NM_138292.2:c.646C>T, XM_047426977.1:c.4525C>A, XM_047426977.1:c.4525C>G, XM_047426977.1:c.4525C>T, XM_047426975.1:c.4690C>A, XM_047426975.1:c.4690C>G, XM_047426975.1:c.4690C>T, XM_047426979.1:c.4525C>A, XM_047426979.1:c.4525C>G, XM_047426979.1:c.4525C>T, XM_047426976.1:c.4690C>A, XM_047426976.1:c.4690C>G, XM_047426976.1:c.4690C>T, XM_047426978.1:c.4525C>A, XM_047426978.1:c.4525C>G, XM_047426978.1:c.4525C>T, NM_138292.1:c.646C>A, NM_138292.1:c.646C>G, NM_138292.1:c.646C>T, XM_047426981.1:c.4690C>A, XM_047426981.1:c.4690C>G, XM_047426981.1:c.4690C>T, NP_000042.3:p.Pro1564Thr, NP_000042.3:p.Pro1564Ala, NP_000042.3:p.Pro1564Ser, NP_001338763.1:p.Pro1564Thr, NP_001338763.1:p.Pro1564Ala, NP_001338763.1:p.Pro1564Ser, XP_005271619.2:p.Pro1564Thr, XP_005271619.2:p.Pro1564Ala, XP_005271619.2:p.Pro1564Ser, XP_006718906.1:p.Pro1564Thr, XP_006718906.1:p.Pro1564Ala, XP_006718906.1:p.Pro1564Ser, XP_011541142.1:p.Pro1564Thr, XP_011541142.1:p.Pro1564Ala, XP_011541142.1:p.Pro1564Ser, XP_011541144.1:p.Pro1509Thr, XP_011541144.1:p.Pro1509Ala, XP_011541144.1:p.Pro1509Ser, XP_011541146.1:p.Pro1216Thr, XP_011541146.1:p.Pro1216Ala, XP_011541146.1:p.Pro1216Ser, XP_016873279.1:p.Pro1564Thr, XP_016873279.1:p.Pro1564Ala, XP_016873279.1:p.Pro1564Ser, XP_011541145.1:p.Pro1564Thr, XP_011541145.1:p.Pro1564Ala, XP_011541145.1:p.Pro1564Ser, XP_006718908.1:p.Pro216Thr, XP_006718908.1:p.Pro216Ala, XP_006718908.1:p.Pro216Ser, XP_047282933.1:p.Pro1509Thr, XP_047282933.1:p.Pro1509Ala, XP_047282933.1:p.Pro1509Ser, XP_047282931.1:p.Pro1564Thr, XP_047282931.1:p.Pro1564Ala, XP_047282931.1:p.Pro1564Ser, XP_047282935.1:p.Pro1509Thr, XP_047282935.1:p.Pro1509Ala, XP_047282935.1:p.Pro1509Ser, XP_047282932.1:p.Pro1564Thr, XP_047282932.1:p.Pro1564Ala, XP_047282932.1:p.Pro1564Ser, XP_047282934.1:p.Pro1509Thr, XP_047282934.1:p.Pro1509Ala, XP_047282934.1:p.Pro1509Ser, XP_047282937.1:p.Pro1564Thr, XP_047282937.1:p.Pro1564Ala, XP_047282937.1:p.Pro1564Ser

    2.

    rs1490064006 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G,T [Show Flanks]
      Chromosome:
      11:108365453 (GRCh38)
      11:108236180 (GRCh37)
      Canonical SPDI:
      NC_000011.10:108365452:C:A,NC_000011.10:108365452:C:G,NC_000011.10:108365452:C:T
      Gene:
      ATM (Varview), C11orf65 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by cluster
      HGVS:
      NC_000011.10:g.108365453C>A, NC_000011.10:g.108365453C>G, NC_000011.10:g.108365453C>T, NC_000011.9:g.108236180C>A, NC_000011.9:g.108236180C>G, NC_000011.9:g.108236180C>T, NG_054724.1:g.109380G>T, NG_054724.1:g.109380G>C, NG_054724.1:g.109380G>A, NG_009830.1:g.147622C>A, NG_009830.1:g.147622C>G, NG_009830.1:g.147622C>T, NM_000051.4:c.9116C>A, NM_000051.4:c.9116C>G, NM_000051.4:c.9116C>T, NM_000051.3:c.9116C>A, NM_000051.3:c.9116C>G, NM_000051.3:c.9116C>T, NM_001351834.2:c.9116C>A, NM_001351834.2:c.9116C>G, NM_001351834.2:c.9116C>T, NM_001351834.1:c.9116C>A, NM_001351834.1:c.9116C>G, NM_001351834.1:c.9116C>T, XM_005271562.6:c.9116C>A, XM_005271562.6:c.9116C>G, XM_005271562.6:c.9116C>T, XM_005271562.5:c.9116C>A, XM_005271562.5:c.9116C>G, XM_005271562.5:c.9116C>T, XM_005271562.4:c.9116C>A, XM_005271562.4:c.9116C>G, XM_005271562.4:c.9116C>T, XM_005271562.3:c.9116C>A, XM_005271562.3:c.9116C>G, XM_005271562.3:c.9116C>T, XM_005271562.2:c.9116C>A, XM_005271562.2:c.9116C>G, XM_005271562.2:c.9116C>T, XM_005271562.1:c.9116C>A, XM_005271562.1:c.9116C>G, XM_005271562.1:c.9116C>T, XM_006718843.5:c.9116C>A, XM_006718843.5:c.9116C>G, XM_006718843.5:c.9116C>T, XM_006718843.4:c.9116C>A, XM_006718843.4:c.9116C>G, XM_006718843.4:c.9116C>T, XM_006718843.3:c.9116C>A, XM_006718843.3:c.9116C>G, XM_006718843.3:c.9116C>T, XM_006718843.2:c.9116C>A, XM_006718843.2:c.9116C>G, XM_006718843.2:c.9116C>T, XM_006718843.1:c.9116C>A, XM_006718843.1:c.9116C>G, XM_006718843.1:c.9116C>T, XM_011542840.4:c.9116C>A, XM_011542840.4:c.9116C>G, XM_011542840.4:c.9116C>T, XM_011542840.3:c.9116C>A, XM_011542840.3:c.9116C>G, XM_011542840.3:c.9116C>T, XM_011542840.2:c.9116C>A, XM_011542840.2:c.9116C>G, XM_011542840.2:c.9116C>T, XM_011542840.1:c.9116C>A, XM_011542840.1:c.9116C>G, XM_011542840.1:c.9116C>T, XM_011542842.4:c.8951C>A, XM_011542842.4:c.8951C>G, XM_011542842.4:c.8951C>T, XM_011542842.3:c.8951C>A, XM_011542842.3:c.8951C>G, XM_011542842.3:c.8951C>T, XM_011542842.2:c.8951C>A, XM_011542842.2:c.8951C>G, XM_011542842.2:c.8951C>T, XM_011542842.1:c.8951C>A, XM_011542842.1:c.8951C>G, XM_011542842.1:c.8951C>T, XM_011542844.4:c.8072C>A, XM_011542844.4:c.8072C>G, XM_011542844.4:c.8072C>T, XM_011542844.3:c.8072C>A, XM_011542844.3:c.8072C>G, XM_011542844.3:c.8072C>T, XM_011542844.2:c.8072C>A, XM_011542844.2:c.8072C>G, XM_011542844.2:c.8072C>T, XM_011542844.1:c.8072C>A, XM_011542844.1:c.8072C>G, XM_011542844.1:c.8072C>T, XM_017017790.3:c.9116C>A, XM_017017790.3:c.9116C>G, XM_017017790.3:c.9116C>T, XM_017017790.2:c.9116C>A, XM_017017790.2:c.9116C>G, XM_017017790.2:c.9116C>T, XM_017017790.1:c.9116C>A, XM_017017790.1:c.9116C>G, XM_017017790.1:c.9116C>T, NM_138292.3:c.5072C>A, NM_138292.3:c.5072C>G, NM_138292.3:c.5072C>T, XM_006718845.3:c.5072C>A, XM_006718845.3:c.5072C>G, XM_006718845.3:c.5072C>T, XM_006718845.2:c.5072C>A, XM_006718845.2:c.5072C>G, XM_006718845.2:c.5072C>T, XM_006718845.1:c.5072C>A, XM_006718845.1:c.5072C>G, XM_006718845.1:c.5072C>T, NM_138292.2:c.5072C>A, NM_138292.2:c.5072C>G, NM_138292.2:c.5072C>T, XM_047426977.1:c.8951C>A, XM_047426977.1:c.8951C>G, XM_047426977.1:c.8951C>T, XM_047426975.1:c.9116C>A, XM_047426975.1:c.9116C>G, XM_047426975.1:c.9116C>T, XM_047426979.1:c.8951C>A, XM_047426979.1:c.8951C>G, XM_047426979.1:c.8951C>T, XM_047426976.1:c.9116C>A, XM_047426976.1:c.9116C>G, XM_047426976.1:c.9116C>T, XM_047426978.1:c.8951C>A, XM_047426978.1:c.8951C>G, XM_047426978.1:c.8951C>T, NM_138292.1:c.5072C>A, NM_138292.1:c.5072C>G, NM_138292.1:c.5072C>T, NP_000042.3:p.Ala3039Asp, NP_000042.3:p.Ala3039Gly, NP_000042.3:p.Ala3039Val, NP_001338763.1:p.Ala3039Asp, NP_001338763.1:p.Ala3039Gly, NP_001338763.1:p.Ala3039Val, XP_005271619.2:p.Ala3039Asp, XP_005271619.2:p.Ala3039Gly, XP_005271619.2:p.Ala3039Val, XP_006718906.1:p.Ala3039Asp, XP_006718906.1:p.Ala3039Gly, XP_006718906.1:p.Ala3039Val, XP_011541142.1:p.Ala3039Asp, XP_011541142.1:p.Ala3039Gly, XP_011541142.1:p.Ala3039Val, XP_011541144.1:p.Ala2984Asp, XP_011541144.1:p.Ala2984Gly, XP_011541144.1:p.Ala2984Val, XP_011541146.1:p.Ala2691Asp, XP_011541146.1:p.Ala2691Gly, XP_011541146.1:p.Ala2691Val, XP_016873279.1:p.Ala3039Asp, XP_016873279.1:p.Ala3039Gly, XP_016873279.1:p.Ala3039Val, XP_006718908.1:p.Ala1691Asp, XP_006718908.1:p.Ala1691Gly, XP_006718908.1:p.Ala1691Val, XP_047282933.1:p.Ala2984Asp, XP_047282933.1:p.Ala2984Gly, XP_047282933.1:p.Ala2984Val, XP_047282931.1:p.Ala3039Asp, XP_047282931.1:p.Ala3039Gly, XP_047282931.1:p.Ala3039Val, XP_047282935.1:p.Ala2984Asp, XP_047282935.1:p.Ala2984Gly, XP_047282935.1:p.Ala2984Val, XP_047282932.1:p.Ala3039Asp, XP_047282932.1:p.Ala3039Gly, XP_047282932.1:p.Ala3039Val, XP_047282934.1:p.Ala2984Asp, XP_047282934.1:p.Ala2984Gly, XP_047282934.1:p.Ala2984Val

      3.

      rs1489567845 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        11:108345879 (GRCh38)
        11:108216606 (GRCh37)
        Canonical SPDI:
        NC_000011.10:108345878:A:G,NC_000011.10:108345878:A:T
        Gene:
        ATM (Varview), C11orf65 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        NC_000011.10:g.108345879A>G, NC_000011.10:g.108345879A>T, NC_000011.9:g.108216606A>G, NC_000011.9:g.108216606A>T, NG_054724.1:g.128954T>C, NG_054724.1:g.128954T>A, NG_009830.1:g.128048A>G, NG_009830.1:g.128048A>T, NM_000051.4:c.8555A>G, NM_000051.4:c.8555A>T, NM_000051.3:c.8555A>G, NM_000051.3:c.8555A>T, NM_001351834.2:c.8555A>G, NM_001351834.2:c.8555A>T, NM_001351834.1:c.8555A>G, NM_001351834.1:c.8555A>T, XM_005271562.6:c.8555A>G, XM_005271562.6:c.8555A>T, XM_005271562.5:c.8555A>G, XM_005271562.5:c.8555A>T, XM_005271562.4:c.8555A>G, XM_005271562.4:c.8555A>T, XM_005271562.3:c.8555A>G, XM_005271562.3:c.8555A>T, XM_005271562.2:c.8555A>G, XM_005271562.2:c.8555A>T, XM_005271562.1:c.8555A>G, XM_005271562.1:c.8555A>T, XM_006718843.5:c.8555A>G, XM_006718843.5:c.8555A>T, XM_006718843.4:c.8555A>G, XM_006718843.4:c.8555A>T, XM_006718843.3:c.8555A>G, XM_006718843.3:c.8555A>T, XM_006718843.2:c.8555A>G, XM_006718843.2:c.8555A>T, XM_006718843.1:c.8555A>G, XM_006718843.1:c.8555A>T, XM_011542840.4:c.8555A>G, XM_011542840.4:c.8555A>T, XM_011542840.3:c.8555A>G, XM_011542840.3:c.8555A>T, XM_011542840.2:c.8555A>G, XM_011542840.2:c.8555A>T, XM_011542840.1:c.8555A>G, XM_011542840.1:c.8555A>T, XM_011542842.4:c.8390A>G, XM_011542842.4:c.8390A>T, XM_011542842.3:c.8390A>G, XM_011542842.3:c.8390A>T, XM_011542842.2:c.8390A>G, XM_011542842.2:c.8390A>T, XM_011542842.1:c.8390A>G, XM_011542842.1:c.8390A>T, XM_011542844.4:c.7511A>G, XM_011542844.4:c.7511A>T, XM_011542844.3:c.7511A>G, XM_011542844.3:c.7511A>T, XM_011542844.2:c.7511A>G, XM_011542844.2:c.7511A>T, XM_011542844.1:c.7511A>G, XM_011542844.1:c.7511A>T, XM_017017790.3:c.8555A>G, XM_017017790.3:c.8555A>T, XM_017017790.2:c.8555A>G, XM_017017790.2:c.8555A>T, XM_017017790.1:c.8555A>G, XM_017017790.1:c.8555A>T, NM_138292.3:c.4511A>G, NM_138292.3:c.4511A>T, XM_011542843.3:c.8555A>G, XM_011542843.3:c.8555A>T, XM_011542843.2:c.8555A>G, XM_011542843.2:c.8555A>T, XM_011542843.1:c.8555A>G, XM_011542843.1:c.8555A>T, XM_006718845.3:c.4511A>G, XM_006718845.3:c.4511A>T, XM_006718845.2:c.4511A>G, XM_006718845.2:c.4511A>T, XM_006718845.1:c.4511A>G, XM_006718845.1:c.4511A>T, NM_138292.2:c.4511A>G, NM_138292.2:c.4511A>T, XM_047426977.1:c.8390A>G, XM_047426977.1:c.8390A>T, XM_047426975.1:c.8555A>G, XM_047426975.1:c.8555A>T, XM_047426979.1:c.8390A>G, XM_047426979.1:c.8390A>T, XM_047426976.1:c.8555A>G, XM_047426976.1:c.8555A>T, XM_047426978.1:c.8390A>G, XM_047426978.1:c.8390A>T, NM_138292.1:c.4511A>G, NM_138292.1:c.4511A>T, NP_000042.3:p.Tyr2852Cys, NP_000042.3:p.Tyr2852Phe, NP_001338763.1:p.Tyr2852Cys, NP_001338763.1:p.Tyr2852Phe, XP_005271619.2:p.Tyr2852Cys, XP_005271619.2:p.Tyr2852Phe, XP_006718906.1:p.Tyr2852Cys, XP_006718906.1:p.Tyr2852Phe, XP_011541142.1:p.Tyr2852Cys, XP_011541142.1:p.Tyr2852Phe, XP_011541144.1:p.Tyr2797Cys, XP_011541144.1:p.Tyr2797Phe, XP_011541146.1:p.Tyr2504Cys, XP_011541146.1:p.Tyr2504Phe, XP_016873279.1:p.Tyr2852Cys, XP_016873279.1:p.Tyr2852Phe, XP_011541145.1:p.Tyr2852Cys, XP_011541145.1:p.Tyr2852Phe, XP_006718908.1:p.Tyr1504Cys, XP_006718908.1:p.Tyr1504Phe, XP_047282933.1:p.Tyr2797Cys, XP_047282933.1:p.Tyr2797Phe, XP_047282931.1:p.Tyr2852Cys, XP_047282931.1:p.Tyr2852Phe, XP_047282935.1:p.Tyr2797Cys, XP_047282935.1:p.Tyr2797Phe, XP_047282932.1:p.Tyr2852Cys, XP_047282932.1:p.Tyr2852Phe, XP_047282934.1:p.Tyr2797Cys, XP_047282934.1:p.Tyr2797Phe

        4.

        rs1487432916 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          11:108329076 (GRCh38)
          11:108199804 (GRCh37)
          Canonical SPDI:
          NC_000011.10:108329076:AAAAA:AAAAAA
          Gene:
          ATM (Varview), C11orf65 (Varview)
          Functional Consequence:
          intron_variant,frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          AAAAAA=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000011.10:g.108329081dup, NC_000011.9:g.108199808dup, NG_054724.1:g.145756dup, NG_009830.1:g.111250dup, NM_000051.4:c.7150dup, NM_000051.3:c.7150dup, NM_001351834.2:c.7150dup, NM_001351834.1:c.7150dup, XM_005271562.6:c.7150dup, XM_005271562.5:c.7150dup, XM_005271562.4:c.7150dup, XM_005271562.3:c.7150dup, XM_005271562.2:c.7150dup, XM_005271562.1:c.7150dup, XM_006718843.5:c.7150dup, XM_006718843.4:c.7150dup, XM_006718843.3:c.7150dup, XM_006718843.2:c.7150dup, XM_006718843.1:c.7150dup, XM_011542840.4:c.7150dup, XM_011542840.3:c.7150dup, XM_011542840.2:c.7150dup, XM_011542840.1:c.7150dup, XM_011542842.4:c.6985dup, XM_011542842.3:c.6985dup, XM_011542842.2:c.6985dup, XM_011542842.1:c.6985dup, XM_011542844.4:c.6106dup, XM_011542844.3:c.6106dup, XM_011542844.2:c.6106dup, XM_011542844.1:c.6106dup, XM_017017790.3:c.7150dup, XM_017017790.2:c.7150dup, XM_017017790.1:c.7150dup, NM_138292.3:c.3106dup, XM_011542843.3:c.7150dup, XM_011542843.2:c.7150dup, XM_011542843.1:c.7150dup, XM_006718845.3:c.3106dup, XM_006718845.2:c.3106dup, XM_006718845.1:c.3106dup, NM_138292.2:c.3106dup, XM_047426977.1:c.6985dup, XM_047426975.1:c.7150dup, XM_047426979.1:c.6985dup, XM_047426976.1:c.7150dup, XM_047426978.1:c.6985dup, NM_138292.1:c.3106dup, NP_000042.3:p.Met2384fs, NP_001338763.1:p.Met2384fs, XP_005271619.2:p.Met2384fs, XP_006718906.1:p.Met2384fs, XP_011541142.1:p.Met2384fs, XP_011541144.1:p.Met2329fs, XP_011541146.1:p.Met2036fs, XP_016873279.1:p.Met2384fs, XP_011541145.1:p.Met2384fs, XP_006718908.1:p.Met1036fs, XP_047282933.1:p.Met2329fs, XP_047282931.1:p.Met2384fs, XP_047282935.1:p.Met2329fs, XP_047282932.1:p.Met2384fs, XP_047282934.1:p.Met2329fs

          5.

          rs1486627670 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            11:108343228 (GRCh38)
            11:108213955 (GRCh37)
            Canonical SPDI:
            NC_000011.10:108343227:CCCC:CCC
            Gene:
            ATM (Varview), C11orf65 (Varview)
            Functional Consequence:
            intron_variant,frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Clinical significance:
            pathogenic
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCC=0./0 (ALFA)
            -=0.000004/1 (GnomAD_exomes)
            -=0.000004/1 (TOPMED)
            HGVS:
            NC_000011.10:g.108343231del, NC_000011.9:g.108213958del, NG_054724.1:g.131605del, NG_009830.1:g.125400del, NM_000051.4:c.8278del, NM_000051.3:c.8278del, NM_001351834.2:c.8278del, NM_001351834.1:c.8278del, XM_005271562.6:c.8278del, XM_005271562.5:c.8278del, XM_005271562.4:c.8278del, XM_005271562.3:c.8278del, XM_005271562.2:c.8278del, XM_005271562.1:c.8278del, XM_006718843.5:c.8278del, XM_006718843.4:c.8278del, XM_006718843.3:c.8278del, XM_006718843.2:c.8278del, XM_006718843.1:c.8278del, XM_011542840.4:c.8278del, XM_011542840.3:c.8278del, XM_011542840.2:c.8278del, XM_011542840.1:c.8278del, XM_011542842.4:c.8113del, XM_011542842.3:c.8113del, XM_011542842.2:c.8113del, XM_011542842.1:c.8113del, XM_011542844.4:c.7234del, XM_011542844.3:c.7234del, XM_011542844.2:c.7234del, XM_011542844.1:c.7234del, XM_017017790.3:c.8278del, XM_017017790.2:c.8278del, XM_017017790.1:c.8278del, NM_138292.3:c.4234del, XM_011542843.3:c.8278del, XM_011542843.2:c.8278del, XM_011542843.1:c.8278del, XM_006718845.3:c.4234del, XM_006718845.2:c.4234del, XM_006718845.1:c.4234del, NM_138292.2:c.4234del, XM_047426977.1:c.8113del, XM_047426975.1:c.8278del, XM_047426979.1:c.8113del, XM_047426976.1:c.8278del, XM_047426978.1:c.8113del, NM_138292.1:c.4234del, NP_000042.3:p.Leu2760fs, NP_001338763.1:p.Leu2760fs, XP_005271619.2:p.Leu2760fs, XP_006718906.1:p.Leu2760fs, XP_011541142.1:p.Leu2760fs, XP_011541144.1:p.Leu2705fs, XP_011541146.1:p.Leu2412fs, XP_016873279.1:p.Leu2760fs, XP_011541145.1:p.Leu2760fs, XP_006718908.1:p.Leu1412fs, XP_047282933.1:p.Leu2705fs, XP_047282931.1:p.Leu2760fs, XP_047282935.1:p.Leu2705fs, XP_047282932.1:p.Leu2760fs, XP_047282934.1:p.Leu2705fs

            6.

            rs1486563159 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              11:108331460 (GRCh38)
              11:108202187 (GRCh37)
              Canonical SPDI:
              NC_000011.10:108331459:T:A
              Gene:
              ATM (Varview), C11orf65 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              NC_000011.10:g.108331460T>A, NC_000011.9:g.108202187T>A, NG_054724.1:g.143373A>T, NR_147053.3:n.2480A>T, NR_147053.2:n.2482A>T, NR_147053.1:n.2482A>T, NG_009830.1:g.113629T>A, NM_000051.4:c.7532T>A, NM_000051.3:c.7532T>A, NM_001351834.2:c.7532T>A, NM_001351834.1:c.7532T>A, XM_005271562.6:c.7532T>A, XM_005271562.5:c.7532T>A, XM_005271562.4:c.7532T>A, XM_005271562.3:c.7532T>A, XM_005271562.2:c.7532T>A, XM_005271562.1:c.7532T>A, XM_006718843.5:c.7532T>A, XM_006718843.4:c.7532T>A, XM_006718843.3:c.7532T>A, XM_006718843.2:c.7532T>A, XM_006718843.1:c.7532T>A, XM_011542840.4:c.7532T>A, XM_011542840.3:c.7532T>A, XM_011542840.2:c.7532T>A, XM_011542840.1:c.7532T>A, XM_011542842.4:c.7367T>A, XM_011542842.3:c.7367T>A, XM_011542842.2:c.7367T>A, XM_011542842.1:c.7367T>A, XM_011542844.4:c.6488T>A, XM_011542844.3:c.6488T>A, XM_011542844.2:c.6488T>A, XM_011542844.1:c.6488T>A, XM_017017790.3:c.7532T>A, XM_017017790.2:c.7532T>A, XM_017017790.1:c.7532T>A, NM_138292.3:c.3488T>A, XM_011542843.3:c.7532T>A, XM_011542843.2:c.7532T>A, XM_011542843.1:c.7532T>A, XM_006718845.3:c.3488T>A, XM_006718845.2:c.3488T>A, XM_006718845.1:c.3488T>A, NM_138292.2:c.3488T>A, XM_047426977.1:c.7367T>A, XM_047426975.1:c.7532T>A, XM_047426979.1:c.7367T>A, XM_047426976.1:c.7532T>A, XM_047426978.1:c.7367T>A, NM_138292.1:c.3488T>A, XM_047426470.1:c.*146A>T, XM_047426471.1:c.*90A>T, NP_000042.3:p.Ile2511Asn, NP_001338763.1:p.Ile2511Asn, XP_005271619.2:p.Ile2511Asn, XP_006718906.1:p.Ile2511Asn, XP_011541142.1:p.Ile2511Asn, XP_011541144.1:p.Ile2456Asn, XP_011541146.1:p.Ile2163Asn, XP_016873279.1:p.Ile2511Asn, XP_011541145.1:p.Ile2511Asn, XP_006718908.1:p.Ile1163Asn, XP_047282933.1:p.Ile2456Asn, XP_047282931.1:p.Ile2511Asn, XP_047282935.1:p.Ile2456Asn, XP_047282932.1:p.Ile2511Asn, XP_047282934.1:p.Ile2456Asn

              7.

              rs1486220915 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                11:108315884 (GRCh38)
                11:108186611 (GRCh37)
                Canonical SPDI:
                NC_000011.10:108315883:G:A,NC_000011.10:108315883:G:T
                Gene:
                ATM (Varview), C11orf65 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000028/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000011.10:g.108315884G>A, NC_000011.10:g.108315884G>T, NC_000011.9:g.108186611G>A, NC_000011.9:g.108186611G>T, NG_054724.1:g.158949C>T, NG_054724.1:g.158949C>A, NG_009830.1:g.98053G>A, NG_009830.1:g.98053G>T, NM_000051.4:c.6068G>A, NM_000051.4:c.6068G>T, NM_000051.3:c.6068G>A, NM_000051.3:c.6068G>T, NM_001351834.2:c.6068G>A, NM_001351834.2:c.6068G>T, NM_001351834.1:c.6068G>A, NM_001351834.1:c.6068G>T, XM_005271562.6:c.6068G>A, XM_005271562.6:c.6068G>T, XM_005271562.5:c.6068G>A, XM_005271562.5:c.6068G>T, XM_005271562.4:c.6068G>A, XM_005271562.4:c.6068G>T, XM_005271562.3:c.6068G>A, XM_005271562.3:c.6068G>T, XM_005271562.2:c.6068G>A, XM_005271562.2:c.6068G>T, XM_005271562.1:c.6068G>A, XM_005271562.1:c.6068G>T, XM_006718843.5:c.6068G>A, XM_006718843.5:c.6068G>T, XM_006718843.4:c.6068G>A, XM_006718843.4:c.6068G>T, XM_006718843.3:c.6068G>A, XM_006718843.3:c.6068G>T, XM_006718843.2:c.6068G>A, XM_006718843.2:c.6068G>T, XM_006718843.1:c.6068G>A, XM_006718843.1:c.6068G>T, XM_011542840.4:c.6068G>A, XM_011542840.4:c.6068G>T, XM_011542840.3:c.6068G>A, XM_011542840.3:c.6068G>T, XM_011542840.2:c.6068G>A, XM_011542840.2:c.6068G>T, XM_011542840.1:c.6068G>A, XM_011542840.1:c.6068G>T, XM_011542842.4:c.5903G>A, XM_011542842.4:c.5903G>T, XM_011542842.3:c.5903G>A, XM_011542842.3:c.5903G>T, XM_011542842.2:c.5903G>A, XM_011542842.2:c.5903G>T, XM_011542842.1:c.5903G>A, XM_011542842.1:c.5903G>T, XM_011542844.4:c.5024G>A, XM_011542844.4:c.5024G>T, XM_011542844.3:c.5024G>A, XM_011542844.3:c.5024G>T, XM_011542844.2:c.5024G>A, XM_011542844.2:c.5024G>T, XM_011542844.1:c.5024G>A, XM_011542844.1:c.5024G>T, XM_017017790.3:c.6068G>A, XM_017017790.3:c.6068G>T, XM_017017790.2:c.6068G>A, XM_017017790.2:c.6068G>T, XM_017017790.1:c.6068G>A, XM_017017790.1:c.6068G>T, NM_138292.3:c.2024G>A, NM_138292.3:c.2024G>T, XM_011542843.3:c.6068G>A, XM_011542843.3:c.6068G>T, XM_011542843.2:c.6068G>A, XM_011542843.2:c.6068G>T, XM_011542843.1:c.6068G>A, XM_011542843.1:c.6068G>T, XM_006718845.3:c.2024G>A, XM_006718845.3:c.2024G>T, XM_006718845.2:c.2024G>A, XM_006718845.2:c.2024G>T, XM_006718845.1:c.2024G>A, XM_006718845.1:c.2024G>T, NM_138292.2:c.2024G>A, NM_138292.2:c.2024G>T, XM_047426977.1:c.5903G>A, XM_047426977.1:c.5903G>T, XM_047426975.1:c.6068G>A, XM_047426975.1:c.6068G>T, XM_047426979.1:c.5903G>A, XM_047426979.1:c.5903G>T, XM_047426976.1:c.6068G>A, XM_047426976.1:c.6068G>T, XM_047426978.1:c.5903G>A, XM_047426978.1:c.5903G>T, NM_138292.1:c.2024G>A, NM_138292.1:c.2024G>T, NP_000042.3:p.Gly2023Glu, NP_000042.3:p.Gly2023Val, NP_001338763.1:p.Gly2023Glu, NP_001338763.1:p.Gly2023Val, XP_005271619.2:p.Gly2023Glu, XP_005271619.2:p.Gly2023Val, XP_006718906.1:p.Gly2023Glu, XP_006718906.1:p.Gly2023Val, XP_011541142.1:p.Gly2023Glu, XP_011541142.1:p.Gly2023Val, XP_011541144.1:p.Gly1968Glu, XP_011541144.1:p.Gly1968Val, XP_011541146.1:p.Gly1675Glu, XP_011541146.1:p.Gly1675Val, XP_016873279.1:p.Gly2023Glu, XP_016873279.1:p.Gly2023Val, XP_011541145.1:p.Gly2023Glu, XP_011541145.1:p.Gly2023Val, XP_006718908.1:p.Gly675Glu, XP_006718908.1:p.Gly675Val, XP_047282933.1:p.Gly1968Glu, XP_047282933.1:p.Gly1968Val, XP_047282931.1:p.Gly2023Glu, XP_047282931.1:p.Gly2023Val, XP_047282935.1:p.Gly1968Glu, XP_047282935.1:p.Gly1968Val, XP_047282932.1:p.Gly2023Glu, XP_047282932.1:p.Gly2023Val, XP_047282934.1:p.Gly1968Glu, XP_047282934.1:p.Gly1968Val

                8.

                rs1485620194 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  11:108365175 (GRCh38)
                  11:108235902 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:108365174:C:A,NC_000011.10:108365174:C:G,NC_000011.10:108365174:C:T
                  Gene:
                  ATM (Varview), C11orf65 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Clinical significance:
                  conflicting-interpretations-of-pathogenicity,uncertain-significance
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000024/6 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.108365175C>A, NC_000011.10:g.108365175C>G, NC_000011.10:g.108365175C>T, NC_000011.9:g.108235902C>A, NC_000011.9:g.108235902C>G, NC_000011.9:g.108235902C>T, NG_054724.1:g.109658G>T, NG_054724.1:g.109658G>C, NG_054724.1:g.109658G>A, NG_009830.1:g.147344C>A, NG_009830.1:g.147344C>G, NG_009830.1:g.147344C>T, NM_000051.4:c.8944C>A, NM_000051.4:c.8944C>G, NM_000051.4:c.8944C>T, NM_000051.3:c.8944C>A, NM_000051.3:c.8944C>G, NM_000051.3:c.8944C>T, NM_001351834.2:c.8944C>A, NM_001351834.2:c.8944C>G, NM_001351834.2:c.8944C>T, NM_001351834.1:c.8944C>A, NM_001351834.1:c.8944C>G, NM_001351834.1:c.8944C>T, XM_005271562.6:c.8944C>A, XM_005271562.6:c.8944C>G, XM_005271562.6:c.8944C>T, XM_005271562.5:c.8944C>A, XM_005271562.5:c.8944C>G, XM_005271562.5:c.8944C>T, XM_005271562.4:c.8944C>A, XM_005271562.4:c.8944C>G, XM_005271562.4:c.8944C>T, XM_005271562.3:c.8944C>A, XM_005271562.3:c.8944C>G, XM_005271562.3:c.8944C>T, XM_005271562.2:c.8944C>A, XM_005271562.2:c.8944C>G, XM_005271562.2:c.8944C>T, XM_005271562.1:c.8944C>A, XM_005271562.1:c.8944C>G, XM_005271562.1:c.8944C>T, XM_006718843.5:c.8944C>A, XM_006718843.5:c.8944C>G, XM_006718843.5:c.8944C>T, XM_006718843.4:c.8944C>A, XM_006718843.4:c.8944C>G, XM_006718843.4:c.8944C>T, XM_006718843.3:c.8944C>A, XM_006718843.3:c.8944C>G, XM_006718843.3:c.8944C>T, XM_006718843.2:c.8944C>A, XM_006718843.2:c.8944C>G, XM_006718843.2:c.8944C>T, XM_006718843.1:c.8944C>A, XM_006718843.1:c.8944C>G, XM_006718843.1:c.8944C>T, XM_011542840.4:c.8944C>A, XM_011542840.4:c.8944C>G, XM_011542840.4:c.8944C>T, XM_011542840.3:c.8944C>A, XM_011542840.3:c.8944C>G, XM_011542840.3:c.8944C>T, XM_011542840.2:c.8944C>A, XM_011542840.2:c.8944C>G, XM_011542840.2:c.8944C>T, XM_011542840.1:c.8944C>A, XM_011542840.1:c.8944C>G, XM_011542840.1:c.8944C>T, XM_011542842.4:c.8779C>A, XM_011542842.4:c.8779C>G, XM_011542842.4:c.8779C>T, XM_011542842.3:c.8779C>A, XM_011542842.3:c.8779C>G, XM_011542842.3:c.8779C>T, XM_011542842.2:c.8779C>A, XM_011542842.2:c.8779C>G, XM_011542842.2:c.8779C>T, XM_011542842.1:c.8779C>A, XM_011542842.1:c.8779C>G, XM_011542842.1:c.8779C>T, XM_011542844.4:c.7900C>A, XM_011542844.4:c.7900C>G, XM_011542844.4:c.7900C>T, XM_011542844.3:c.7900C>A, XM_011542844.3:c.7900C>G, XM_011542844.3:c.7900C>T, XM_011542844.2:c.7900C>A, XM_011542844.2:c.7900C>G, XM_011542844.2:c.7900C>T, XM_011542844.1:c.7900C>A, XM_011542844.1:c.7900C>G, XM_011542844.1:c.7900C>T, XM_017017790.3:c.8944C>A, XM_017017790.3:c.8944C>G, XM_017017790.3:c.8944C>T, XM_017017790.2:c.8944C>A, XM_017017790.2:c.8944C>G, XM_017017790.2:c.8944C>T, XM_017017790.1:c.8944C>A, XM_017017790.1:c.8944C>G, XM_017017790.1:c.8944C>T, NM_138292.3:c.4900C>A, NM_138292.3:c.4900C>G, NM_138292.3:c.4900C>T, XM_006718845.3:c.4900C>A, XM_006718845.3:c.4900C>G, XM_006718845.3:c.4900C>T, XM_006718845.2:c.4900C>A, XM_006718845.2:c.4900C>G, XM_006718845.2:c.4900C>T, XM_006718845.1:c.4900C>A, XM_006718845.1:c.4900C>G, XM_006718845.1:c.4900C>T, NM_138292.2:c.4900C>A, NM_138292.2:c.4900C>G, NM_138292.2:c.4900C>T, XM_047426977.1:c.8779C>A, XM_047426977.1:c.8779C>G, XM_047426977.1:c.8779C>T, XM_047426975.1:c.8944C>A, XM_047426975.1:c.8944C>G, XM_047426975.1:c.8944C>T, XM_047426979.1:c.8779C>A, XM_047426979.1:c.8779C>G, XM_047426979.1:c.8779C>T, XM_047426976.1:c.8944C>A, XM_047426976.1:c.8944C>G, XM_047426976.1:c.8944C>T, XM_047426978.1:c.8779C>A, XM_047426978.1:c.8779C>G, XM_047426978.1:c.8779C>T, NM_138292.1:c.4900C>A, NM_138292.1:c.4900C>G, NM_138292.1:c.4900C>T, NP_000042.3:p.Pro2982Thr, NP_000042.3:p.Pro2982Ala, NP_000042.3:p.Pro2982Ser, NP_001338763.1:p.Pro2982Thr, NP_001338763.1:p.Pro2982Ala, NP_001338763.1:p.Pro2982Ser, XP_005271619.2:p.Pro2982Thr, XP_005271619.2:p.Pro2982Ala, XP_005271619.2:p.Pro2982Ser, XP_006718906.1:p.Pro2982Thr, XP_006718906.1:p.Pro2982Ala, XP_006718906.1:p.Pro2982Ser, XP_011541142.1:p.Pro2982Thr, XP_011541142.1:p.Pro2982Ala, XP_011541142.1:p.Pro2982Ser, XP_011541144.1:p.Pro2927Thr, XP_011541144.1:p.Pro2927Ala, XP_011541144.1:p.Pro2927Ser, XP_011541146.1:p.Pro2634Thr, XP_011541146.1:p.Pro2634Ala, XP_011541146.1:p.Pro2634Ser, XP_016873279.1:p.Pro2982Thr, XP_016873279.1:p.Pro2982Ala, XP_016873279.1:p.Pro2982Ser, XP_006718908.1:p.Pro1634Thr, XP_006718908.1:p.Pro1634Ala, XP_006718908.1:p.Pro1634Ser, XP_047282933.1:p.Pro2927Thr, XP_047282933.1:p.Pro2927Ala, XP_047282933.1:p.Pro2927Ser, XP_047282931.1:p.Pro2982Thr, XP_047282931.1:p.Pro2982Ala, XP_047282931.1:p.Pro2982Ser, XP_047282935.1:p.Pro2927Thr, XP_047282935.1:p.Pro2927Ala, XP_047282935.1:p.Pro2927Ser, XP_047282932.1:p.Pro2982Thr, XP_047282932.1:p.Pro2982Ala, XP_047282932.1:p.Pro2982Ser, XP_047282934.1:p.Pro2927Thr, XP_047282934.1:p.Pro2927Ala, XP_047282934.1:p.Pro2927Ser

                  9.

                  rs1484346818 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,T [Show Flanks]
                    Chromosome:
                    11:108332785 (GRCh38)
                    11:108203512 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:108332784:A:C,NC_000011.10:108332784:A:T
                    Gene:
                    ATM (Varview), C11orf65 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Clinical significance:
                    uncertain-significance
                    HGVS:
                    NC_000011.10:g.108332785A>C, NC_000011.10:g.108332785A>T, NC_000011.9:g.108203512A>C, NC_000011.9:g.108203512A>T, NG_054724.1:g.142048T>G, NG_054724.1:g.142048T>A, NG_009830.1:g.114954A>C, NG_009830.1:g.114954A>T, NM_000051.4:c.7812A>C, NM_000051.4:c.7812A>T, NM_000051.3:c.7812A>C, NM_000051.3:c.7812A>T, NM_001351834.2:c.7812A>C, NM_001351834.2:c.7812A>T, NM_001351834.1:c.7812A>C, NM_001351834.1:c.7812A>T, XM_005271562.6:c.7812A>C, XM_005271562.6:c.7812A>T, XM_005271562.5:c.7812A>C, XM_005271562.5:c.7812A>T, XM_005271562.4:c.7812A>C, XM_005271562.4:c.7812A>T, XM_005271562.3:c.7812A>C, XM_005271562.3:c.7812A>T, XM_005271562.2:c.7812A>C, XM_005271562.2:c.7812A>T, XM_005271562.1:c.7812A>C, XM_005271562.1:c.7812A>T, XM_006718843.5:c.7812A>C, XM_006718843.5:c.7812A>T, XM_006718843.4:c.7812A>C, XM_006718843.4:c.7812A>T, XM_006718843.3:c.7812A>C, XM_006718843.3:c.7812A>T, XM_006718843.2:c.7812A>C, XM_006718843.2:c.7812A>T, XM_006718843.1:c.7812A>C, XM_006718843.1:c.7812A>T, XM_011542840.4:c.7812A>C, XM_011542840.4:c.7812A>T, XM_011542840.3:c.7812A>C, XM_011542840.3:c.7812A>T, XM_011542840.2:c.7812A>C, XM_011542840.2:c.7812A>T, XM_011542840.1:c.7812A>C, XM_011542840.1:c.7812A>T, XM_011542842.4:c.7647A>C, XM_011542842.4:c.7647A>T, XM_011542842.3:c.7647A>C, XM_011542842.3:c.7647A>T, XM_011542842.2:c.7647A>C, XM_011542842.2:c.7647A>T, XM_011542842.1:c.7647A>C, XM_011542842.1:c.7647A>T, XM_011542844.4:c.6768A>C, XM_011542844.4:c.6768A>T, XM_011542844.3:c.6768A>C, XM_011542844.3:c.6768A>T, XM_011542844.2:c.6768A>C, XM_011542844.2:c.6768A>T, XM_011542844.1:c.6768A>C, XM_011542844.1:c.6768A>T, XM_017017790.3:c.7812A>C, XM_017017790.3:c.7812A>T, XM_017017790.2:c.7812A>C, XM_017017790.2:c.7812A>T, XM_017017790.1:c.7812A>C, XM_017017790.1:c.7812A>T, NM_138292.3:c.3768A>C, NM_138292.3:c.3768A>T, XM_011542843.3:c.7812A>C, XM_011542843.3:c.7812A>T, XM_011542843.2:c.7812A>C, XM_011542843.2:c.7812A>T, XM_011542843.1:c.7812A>C, XM_011542843.1:c.7812A>T, XM_006718845.3:c.3768A>C, XM_006718845.3:c.3768A>T, XM_006718845.2:c.3768A>C, XM_006718845.2:c.3768A>T, XM_006718845.1:c.3768A>C, XM_006718845.1:c.3768A>T, NM_138292.2:c.3768A>C, NM_138292.2:c.3768A>T, XM_047426977.1:c.7647A>C, XM_047426977.1:c.7647A>T, XM_047426975.1:c.7812A>C, XM_047426975.1:c.7812A>T, XM_047426979.1:c.7647A>C, XM_047426979.1:c.7647A>T, XM_047426976.1:c.7812A>C, XM_047426976.1:c.7812A>T, XM_047426978.1:c.7647A>C, XM_047426978.1:c.7647A>T, NM_138292.1:c.3768A>C, NM_138292.1:c.3768A>T, NP_000042.3:p.Arg2604Ser, NP_000042.3:p.Arg2604Ser, NP_001338763.1:p.Arg2604Ser, NP_001338763.1:p.Arg2604Ser, XP_005271619.2:p.Arg2604Ser, XP_005271619.2:p.Arg2604Ser, XP_006718906.1:p.Arg2604Ser, XP_006718906.1:p.Arg2604Ser, XP_011541142.1:p.Arg2604Ser, XP_011541142.1:p.Arg2604Ser, XP_011541144.1:p.Arg2549Ser, XP_011541144.1:p.Arg2549Ser, XP_011541146.1:p.Arg2256Ser, XP_011541146.1:p.Arg2256Ser, XP_016873279.1:p.Arg2604Ser, XP_016873279.1:p.Arg2604Ser, XP_011541145.1:p.Arg2604Ser, XP_011541145.1:p.Arg2604Ser, XP_006718908.1:p.Arg1256Ser, XP_006718908.1:p.Arg1256Ser, XP_047282933.1:p.Arg2549Ser, XP_047282933.1:p.Arg2549Ser, XP_047282931.1:p.Arg2604Ser, XP_047282931.1:p.Arg2604Ser, XP_047282935.1:p.Arg2549Ser, XP_047282935.1:p.Arg2549Ser, XP_047282932.1:p.Arg2604Ser, XP_047282932.1:p.Arg2604Ser, XP_047282934.1:p.Arg2549Ser, XP_047282934.1:p.Arg2549Ser

                    10.

                    rs1483752617 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:108299811 (GRCh38)
                      11:108170538 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:108299810:G:A
                      Gene:
                      ATM (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000011.10:g.108299811G>A, NC_000011.9:g.108170538G>A, NG_009830.1:g.81980G>A, NM_000051.4:c.5103G>A, NM_000051.3:c.5103G>A, NM_001351834.2:c.5103G>A, NM_001351834.1:c.5103G>A, XM_005271562.6:c.5103G>A, XM_005271562.5:c.5103G>A, XM_005271562.4:c.5103G>A, XM_005271562.3:c.5103G>A, XM_005271562.2:c.5103G>A, XM_005271562.1:c.5103G>A, XM_006718843.5:c.5103G>A, XM_006718843.4:c.5103G>A, XM_006718843.3:c.5103G>A, XM_006718843.2:c.5103G>A, XM_006718843.1:c.5103G>A, XM_011542840.4:c.5103G>A, XM_011542840.3:c.5103G>A, XM_011542840.2:c.5103G>A, XM_011542840.1:c.5103G>A, XM_011542842.4:c.4938G>A, XM_011542842.3:c.4938G>A, XM_011542842.2:c.4938G>A, XM_011542842.1:c.4938G>A, XM_011542844.4:c.4059G>A, XM_011542844.3:c.4059G>A, XM_011542844.2:c.4059G>A, XM_011542844.1:c.4059G>A, XM_017017790.3:c.5103G>A, XM_017017790.2:c.5103G>A, XM_017017790.1:c.5103G>A, NM_138292.3:c.1059G>A, XM_011542843.3:c.5103G>A, XM_011542843.2:c.5103G>A, XM_011542843.1:c.5103G>A, XM_006718845.3:c.1059G>A, XM_006718845.2:c.1059G>A, XM_006718845.1:c.1059G>A, NM_138292.2:c.1059G>A, XM_047426977.1:c.4938G>A, XM_047426975.1:c.5103G>A, XM_047426979.1:c.4938G>A, XM_047426976.1:c.5103G>A, XM_047426978.1:c.4938G>A, NM_138292.1:c.1059G>A

                      11.

                      rs1482691031 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        11:108325383 (GRCh38)
                        11:108196110 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:108325382:G:A,NC_000011.10:108325382:G:C
                        Gene:
                        ATM (Varview), C11orf65 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000011.10:g.108325383G>A, NC_000011.10:g.108325383G>C, NC_000011.9:g.108196110G>A, NC_000011.9:g.108196110G>C, NG_054724.1:g.149450C>T, NG_054724.1:g.149450C>G, NG_009830.1:g.107552G>A, NG_009830.1:g.107552G>C, NM_000051.4:c.6646G>A, NM_000051.4:c.6646G>C, NM_000051.3:c.6646G>A, NM_000051.3:c.6646G>C, NM_001351834.2:c.6646G>A, NM_001351834.2:c.6646G>C, NM_001351834.1:c.6646G>A, NM_001351834.1:c.6646G>C, XM_005271562.6:c.6646G>A, XM_005271562.6:c.6646G>C, XM_005271562.5:c.6646G>A, XM_005271562.5:c.6646G>C, XM_005271562.4:c.6646G>A, XM_005271562.4:c.6646G>C, XM_005271562.3:c.6646G>A, XM_005271562.3:c.6646G>C, XM_005271562.2:c.6646G>A, XM_005271562.2:c.6646G>C, XM_005271562.1:c.6646G>A, XM_005271562.1:c.6646G>C, XM_006718843.5:c.6646G>A, XM_006718843.5:c.6646G>C, XM_006718843.4:c.6646G>A, XM_006718843.4:c.6646G>C, XM_006718843.3:c.6646G>A, XM_006718843.3:c.6646G>C, XM_006718843.2:c.6646G>A, XM_006718843.2:c.6646G>C, XM_006718843.1:c.6646G>A, XM_006718843.1:c.6646G>C, XM_011542840.4:c.6646G>A, XM_011542840.4:c.6646G>C, XM_011542840.3:c.6646G>A, XM_011542840.3:c.6646G>C, XM_011542840.2:c.6646G>A, XM_011542840.2:c.6646G>C, XM_011542840.1:c.6646G>A, XM_011542840.1:c.6646G>C, XM_011542842.4:c.6481G>A, XM_011542842.4:c.6481G>C, XM_011542842.3:c.6481G>A, XM_011542842.3:c.6481G>C, XM_011542842.2:c.6481G>A, XM_011542842.2:c.6481G>C, XM_011542842.1:c.6481G>A, XM_011542842.1:c.6481G>C, XM_011542844.4:c.5602G>A, XM_011542844.4:c.5602G>C, XM_011542844.3:c.5602G>A, XM_011542844.3:c.5602G>C, XM_011542844.2:c.5602G>A, XM_011542844.2:c.5602G>C, XM_011542844.1:c.5602G>A, XM_011542844.1:c.5602G>C, XM_017017790.3:c.6646G>A, XM_017017790.3:c.6646G>C, XM_017017790.2:c.6646G>A, XM_017017790.2:c.6646G>C, XM_017017790.1:c.6646G>A, XM_017017790.1:c.6646G>C, NM_138292.3:c.2602G>A, NM_138292.3:c.2602G>C, XM_011542843.3:c.6646G>A, XM_011542843.3:c.6646G>C, XM_011542843.2:c.6646G>A, XM_011542843.2:c.6646G>C, XM_011542843.1:c.6646G>A, XM_011542843.1:c.6646G>C, XM_006718845.3:c.2602G>A, XM_006718845.3:c.2602G>C, XM_006718845.2:c.2602G>A, XM_006718845.2:c.2602G>C, XM_006718845.1:c.2602G>A, XM_006718845.1:c.2602G>C, NM_138292.2:c.2602G>A, NM_138292.2:c.2602G>C, XM_047426977.1:c.6481G>A, XM_047426977.1:c.6481G>C, XM_047426975.1:c.6646G>A, XM_047426975.1:c.6646G>C, XM_047426979.1:c.6481G>A, XM_047426979.1:c.6481G>C, XM_047426976.1:c.6646G>A, XM_047426976.1:c.6646G>C, XM_047426978.1:c.6481G>A, XM_047426978.1:c.6481G>C, NM_138292.1:c.2602G>A, NM_138292.1:c.2602G>C, NP_000042.3:p.Asp2216Asn, NP_000042.3:p.Asp2216His, NP_001338763.1:p.Asp2216Asn, NP_001338763.1:p.Asp2216His, XP_005271619.2:p.Asp2216Asn, XP_005271619.2:p.Asp2216His, XP_006718906.1:p.Asp2216Asn, XP_006718906.1:p.Asp2216His, XP_011541142.1:p.Asp2216Asn, XP_011541142.1:p.Asp2216His, XP_011541144.1:p.Asp2161Asn, XP_011541144.1:p.Asp2161His, XP_011541146.1:p.Asp1868Asn, XP_011541146.1:p.Asp1868His, XP_016873279.1:p.Asp2216Asn, XP_016873279.1:p.Asp2216His, XP_011541145.1:p.Asp2216Asn, XP_011541145.1:p.Asp2216His, XP_006718908.1:p.Asp868Asn, XP_006718908.1:p.Asp868His, XP_047282933.1:p.Asp2161Asn, XP_047282933.1:p.Asp2161His, XP_047282931.1:p.Asp2216Asn, XP_047282931.1:p.Asp2216His, XP_047282935.1:p.Asp2161Asn, XP_047282935.1:p.Asp2161His, XP_047282932.1:p.Asp2216Asn, XP_047282932.1:p.Asp2216His, XP_047282934.1:p.Asp2161Asn, XP_047282934.1:p.Asp2161His

                        12.

                        rs1481787409 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          11:108331529 (GRCh38)
                          11:108202256 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:108331528:G:A,NC_000011.10:108331528:G:C
                          Gene:
                          ATM (Varview), C11orf65 (Varview)
                          Functional Consequence:
                          intron_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000342/1 (KOREAN)
                          HGVS:
                          NC_000011.10:g.108331529G>A, NC_000011.10:g.108331529G>C, NC_000011.9:g.108202256G>A, NC_000011.9:g.108202256G>C, NG_054724.1:g.143304C>T, NG_054724.1:g.143304C>G, NR_147053.3:n.2411C>T, NR_147053.3:n.2411C>G, NR_147053.2:n.2413C>T, NR_147053.2:n.2413C>G, NR_147053.1:n.2413C>T, NR_147053.1:n.2413C>G, NG_009830.1:g.113698G>A, NG_009830.1:g.113698G>C, NM_000051.4:c.7601G>A, NM_000051.4:c.7601G>C, NM_000051.3:c.7601G>A, NM_000051.3:c.7601G>C, NM_001351834.2:c.7601G>A, NM_001351834.2:c.7601G>C, NM_001351834.1:c.7601G>A, NM_001351834.1:c.7601G>C, XM_005271562.6:c.7601G>A, XM_005271562.6:c.7601G>C, XM_005271562.5:c.7601G>A, XM_005271562.5:c.7601G>C, XM_005271562.4:c.7601G>A, XM_005271562.4:c.7601G>C, XM_005271562.3:c.7601G>A, XM_005271562.3:c.7601G>C, XM_005271562.2:c.7601G>A, XM_005271562.2:c.7601G>C, XM_005271562.1:c.7601G>A, XM_005271562.1:c.7601G>C, XM_006718843.5:c.7601G>A, XM_006718843.5:c.7601G>C, XM_006718843.4:c.7601G>A, XM_006718843.4:c.7601G>C, XM_006718843.3:c.7601G>A, XM_006718843.3:c.7601G>C, XM_006718843.2:c.7601G>A, XM_006718843.2:c.7601G>C, XM_006718843.1:c.7601G>A, XM_006718843.1:c.7601G>C, XM_011542840.4:c.7601G>A, XM_011542840.4:c.7601G>C, XM_011542840.3:c.7601G>A, XM_011542840.3:c.7601G>C, XM_011542840.2:c.7601G>A, XM_011542840.2:c.7601G>C, XM_011542840.1:c.7601G>A, XM_011542840.1:c.7601G>C, XM_011542842.4:c.7436G>A, XM_011542842.4:c.7436G>C, XM_011542842.3:c.7436G>A, XM_011542842.3:c.7436G>C, XM_011542842.2:c.7436G>A, XM_011542842.2:c.7436G>C, XM_011542842.1:c.7436G>A, XM_011542842.1:c.7436G>C, XM_011542844.4:c.6557G>A, XM_011542844.4:c.6557G>C, XM_011542844.3:c.6557G>A, XM_011542844.3:c.6557G>C, XM_011542844.2:c.6557G>A, XM_011542844.2:c.6557G>C, XM_011542844.1:c.6557G>A, XM_011542844.1:c.6557G>C, XM_017017790.3:c.7601G>A, XM_017017790.3:c.7601G>C, XM_017017790.2:c.7601G>A, XM_017017790.2:c.7601G>C, XM_017017790.1:c.7601G>A, XM_017017790.1:c.7601G>C, NM_138292.3:c.3557G>A, NM_138292.3:c.3557G>C, XM_011542843.3:c.7601G>A, XM_011542843.3:c.7601G>C, XM_011542843.2:c.7601G>A, XM_011542843.2:c.7601G>C, XM_011542843.1:c.7601G>A, XM_011542843.1:c.7601G>C, XM_006718845.3:c.3557G>A, XM_006718845.3:c.3557G>C, XM_006718845.2:c.3557G>A, XM_006718845.2:c.3557G>C, XM_006718845.1:c.3557G>A, XM_006718845.1:c.3557G>C, NM_138292.2:c.3557G>A, NM_138292.2:c.3557G>C, XM_047426977.1:c.7436G>A, XM_047426977.1:c.7436G>C, XM_047426975.1:c.7601G>A, XM_047426975.1:c.7601G>C, XM_047426979.1:c.7436G>A, XM_047426979.1:c.7436G>C, XM_047426976.1:c.7601G>A, XM_047426976.1:c.7601G>C, XM_047426978.1:c.7436G>A, XM_047426978.1:c.7436G>C, NM_138292.1:c.3557G>A, NM_138292.1:c.3557G>C, XM_047426470.1:c.*77C>T, XM_047426470.1:c.*77C>G, XM_047426471.1:c.*21C>T, XM_047426471.1:c.*21C>G, NP_000042.3:p.Gly2534Asp, NP_000042.3:p.Gly2534Ala, NP_001338763.1:p.Gly2534Asp, NP_001338763.1:p.Gly2534Ala, XP_005271619.2:p.Gly2534Asp, XP_005271619.2:p.Gly2534Ala, XP_006718906.1:p.Gly2534Asp, XP_006718906.1:p.Gly2534Ala, XP_011541142.1:p.Gly2534Asp, XP_011541142.1:p.Gly2534Ala, XP_011541144.1:p.Gly2479Asp, XP_011541144.1:p.Gly2479Ala, XP_011541146.1:p.Gly2186Asp, XP_011541146.1:p.Gly2186Ala, XP_016873279.1:p.Gly2534Asp, XP_016873279.1:p.Gly2534Ala, XP_011541145.1:p.Gly2534Asp, XP_011541145.1:p.Gly2534Ala, XP_006718908.1:p.Gly1186Asp, XP_006718908.1:p.Gly1186Ala, XP_047282933.1:p.Gly2479Asp, XP_047282933.1:p.Gly2479Ala, XP_047282931.1:p.Gly2534Asp, XP_047282931.1:p.Gly2534Ala, XP_047282935.1:p.Gly2479Asp, XP_047282935.1:p.Gly2479Ala, XP_047282932.1:p.Gly2534Asp, XP_047282932.1:p.Gly2534Ala, XP_047282934.1:p.Gly2479Asp, XP_047282934.1:p.Gly2479Ala

                          13.

                          rs1480750088 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->AGTA [Show Flanks]
                            Chromosome:
                            11:108292707 (GRCh38)
                            11:108163435 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:108292707::AGTA
                            Gene:
                            ATM (Varview)
                            Functional Consequence:
                            stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            AGTA=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.108292707_108292708insAGTA, NC_000011.9:g.108163434_108163435insAGTA, NG_009830.1:g.74876_74877insAGTA, NM_000051.4:c.4525_4526insAGTA, NM_000051.3:c.4525_4526insAGTA, NM_001351834.2:c.4525_4526insAGTA, NM_001351834.1:c.4525_4526insAGTA, XM_005271562.6:c.4525_4526insAGTA, XM_005271562.5:c.4525_4526insAGTA, XM_005271562.4:c.4525_4526insAGTA, XM_005271562.3:c.4525_4526insAGTA, XM_005271562.2:c.4525_4526insAGTA, XM_005271562.1:c.4525_4526insAGTA, XM_006718843.5:c.4525_4526insAGTA, XM_006718843.4:c.4525_4526insAGTA, XM_006718843.3:c.4525_4526insAGTA, XM_006718843.2:c.4525_4526insAGTA, XM_006718843.1:c.4525_4526insAGTA, XM_011542840.4:c.4525_4526insAGTA, XM_011542840.3:c.4525_4526insAGTA, XM_011542840.2:c.4525_4526insAGTA, XM_011542840.1:c.4525_4526insAGTA, XM_011542842.4:c.4360_4361insAGTA, XM_011542842.3:c.4360_4361insAGTA, XM_011542842.2:c.4360_4361insAGTA, XM_011542842.1:c.4360_4361insAGTA, XM_011542844.4:c.3481_3482insAGTA, XM_011542844.3:c.3481_3482insAGTA, XM_011542844.2:c.3481_3482insAGTA, XM_011542844.1:c.3481_3482insAGTA, XM_017017790.3:c.4525_4526insAGTA, XM_017017790.2:c.4525_4526insAGTA, XM_017017790.1:c.4525_4526insAGTA, NM_138292.3:c.481_482insAGTA, XM_011542843.3:c.4525_4526insAGTA, XM_011542843.2:c.4525_4526insAGTA, XM_011542843.1:c.4525_4526insAGTA, XM_006718845.3:c.481_482insAGTA, XM_006718845.2:c.481_482insAGTA, XM_006718845.1:c.481_482insAGTA, NM_138292.2:c.481_482insAGTA, XM_047426977.1:c.4360_4361insAGTA, XM_047426975.1:c.4525_4526insAGTA, XM_047426979.1:c.4360_4361insAGTA, XM_047426976.1:c.4525_4526insAGTA, XM_047426978.1:c.4360_4361insAGTA, NM_138292.1:c.481_482insAGTA, XM_047426981.1:c.4525_4526insAGTA, NP_000042.3:p.Cys1509Ter, NP_001338763.1:p.Cys1509Ter, XP_005271619.2:p.Cys1509Ter, XP_006718906.1:p.Cys1509Ter, XP_011541142.1:p.Cys1509Ter, XP_011541144.1:p.Cys1454Ter, XP_011541146.1:p.Cys1161Ter, XP_016873279.1:p.Cys1509Ter, XP_011541145.1:p.Cys1509Ter, XP_006718908.1:p.Cys161Ter, XP_047282933.1:p.Cys1454Ter, XP_047282931.1:p.Cys1509Ter, XP_047282935.1:p.Cys1454Ter, XP_047282932.1:p.Cys1509Ter, XP_047282934.1:p.Cys1454Ter, XP_047282937.1:p.Cys1509Ter

                            14.

                            rs1480066803 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              11:108331465 (GRCh38)
                              11:108202192 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:108331464:A:G,NC_000011.10:108331464:A:T
                              Gene:
                              ATM (Varview), C11orf65 (Varview)
                              Functional Consequence:
                              intron_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.108331465A>G, NC_000011.10:g.108331465A>T, NC_000011.9:g.108202192A>G, NC_000011.9:g.108202192A>T, NG_054724.1:g.143368T>C, NG_054724.1:g.143368T>A, NR_147053.3:n.2475T>C, NR_147053.3:n.2475T>A, NR_147053.2:n.2477T>C, NR_147053.2:n.2477T>A, NR_147053.1:n.2477T>C, NR_147053.1:n.2477T>A, NG_009830.1:g.113634A>G, NG_009830.1:g.113634A>T, NM_000051.4:c.7537A>G, NM_000051.4:c.7537A>T, NM_000051.3:c.7537A>G, NM_000051.3:c.7537A>T, NM_001351834.2:c.7537A>G, NM_001351834.2:c.7537A>T, NM_001351834.1:c.7537A>G, NM_001351834.1:c.7537A>T, XM_005271562.6:c.7537A>G, XM_005271562.6:c.7537A>T, XM_005271562.5:c.7537A>G, XM_005271562.5:c.7537A>T, XM_005271562.4:c.7537A>G, XM_005271562.4:c.7537A>T, XM_005271562.3:c.7537A>G, XM_005271562.3:c.7537A>T, XM_005271562.2:c.7537A>G, XM_005271562.2:c.7537A>T, XM_005271562.1:c.7537A>G, XM_005271562.1:c.7537A>T, XM_006718843.5:c.7537A>G, XM_006718843.5:c.7537A>T, XM_006718843.4:c.7537A>G, XM_006718843.4:c.7537A>T, XM_006718843.3:c.7537A>G, XM_006718843.3:c.7537A>T, XM_006718843.2:c.7537A>G, XM_006718843.2:c.7537A>T, XM_006718843.1:c.7537A>G, XM_006718843.1:c.7537A>T, XM_011542840.4:c.7537A>G, XM_011542840.4:c.7537A>T, XM_011542840.3:c.7537A>G, XM_011542840.3:c.7537A>T, XM_011542840.2:c.7537A>G, XM_011542840.2:c.7537A>T, XM_011542840.1:c.7537A>G, XM_011542840.1:c.7537A>T, XM_011542842.4:c.7372A>G, XM_011542842.4:c.7372A>T, XM_011542842.3:c.7372A>G, XM_011542842.3:c.7372A>T, XM_011542842.2:c.7372A>G, XM_011542842.2:c.7372A>T, XM_011542842.1:c.7372A>G, XM_011542842.1:c.7372A>T, XM_011542844.4:c.6493A>G, XM_011542844.4:c.6493A>T, XM_011542844.3:c.6493A>G, XM_011542844.3:c.6493A>T, XM_011542844.2:c.6493A>G, XM_011542844.2:c.6493A>T, XM_011542844.1:c.6493A>G, XM_011542844.1:c.6493A>T, XM_017017790.3:c.7537A>G, XM_017017790.3:c.7537A>T, XM_017017790.2:c.7537A>G, XM_017017790.2:c.7537A>T, XM_017017790.1:c.7537A>G, XM_017017790.1:c.7537A>T, NM_138292.3:c.3493A>G, NM_138292.3:c.3493A>T, XM_011542843.3:c.7537A>G, XM_011542843.3:c.7537A>T, XM_011542843.2:c.7537A>G, XM_011542843.2:c.7537A>T, XM_011542843.1:c.7537A>G, XM_011542843.1:c.7537A>T, XM_006718845.3:c.3493A>G, XM_006718845.3:c.3493A>T, XM_006718845.2:c.3493A>G, XM_006718845.2:c.3493A>T, XM_006718845.1:c.3493A>G, XM_006718845.1:c.3493A>T, NM_138292.2:c.3493A>G, NM_138292.2:c.3493A>T, XM_047426977.1:c.7372A>G, XM_047426977.1:c.7372A>T, XM_047426975.1:c.7537A>G, XM_047426975.1:c.7537A>T, XM_047426979.1:c.7372A>G, XM_047426979.1:c.7372A>T, XM_047426976.1:c.7537A>G, XM_047426976.1:c.7537A>T, XM_047426978.1:c.7372A>G, XM_047426978.1:c.7372A>T, NM_138292.1:c.3493A>G, NM_138292.1:c.3493A>T, XM_047426470.1:c.*141T>C, XM_047426470.1:c.*141T>A, XM_047426471.1:c.*85T>C, XM_047426471.1:c.*85T>A, NP_000042.3:p.Thr2513Ala, NP_000042.3:p.Thr2513Ser, NP_001338763.1:p.Thr2513Ala, NP_001338763.1:p.Thr2513Ser, XP_005271619.2:p.Thr2513Ala, XP_005271619.2:p.Thr2513Ser, XP_006718906.1:p.Thr2513Ala, XP_006718906.1:p.Thr2513Ser, XP_011541142.1:p.Thr2513Ala, XP_011541142.1:p.Thr2513Ser, XP_011541144.1:p.Thr2458Ala, XP_011541144.1:p.Thr2458Ser, XP_011541146.1:p.Thr2165Ala, XP_011541146.1:p.Thr2165Ser, XP_016873279.1:p.Thr2513Ala, XP_016873279.1:p.Thr2513Ser, XP_011541145.1:p.Thr2513Ala, XP_011541145.1:p.Thr2513Ser, XP_006718908.1:p.Thr1165Ala, XP_006718908.1:p.Thr1165Ser, XP_047282933.1:p.Thr2458Ala, XP_047282933.1:p.Thr2458Ser, XP_047282931.1:p.Thr2513Ala, XP_047282931.1:p.Thr2513Ser, XP_047282935.1:p.Thr2458Ala, XP_047282935.1:p.Thr2458Ser, XP_047282932.1:p.Thr2513Ala, XP_047282932.1:p.Thr2513Ser, XP_047282934.1:p.Thr2458Ala, XP_047282934.1:p.Thr2458Ser

                              15.

                              rs1479883295 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                11:108327754 (GRCh38)
                                11:108198481 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:108327753:A:C,NC_000011.10:108327753:A:G
                                Gene:
                                ATM (Varview), C11orf65 (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000011.10:g.108327754A>C, NC_000011.10:g.108327754A>G, NC_000011.9:g.108198481A>C, NC_000011.9:g.108198481A>G, NG_054724.1:g.147079T>G, NG_054724.1:g.147079T>C, NG_009830.1:g.109923A>C, NG_009830.1:g.109923A>G, NM_000051.4:c.7085A>C, NM_000051.4:c.7085A>G, NM_000051.3:c.7085A>C, NM_000051.3:c.7085A>G, NM_001351834.2:c.7085A>C, NM_001351834.2:c.7085A>G, NM_001351834.1:c.7085A>C, NM_001351834.1:c.7085A>G, XM_005271562.6:c.7085A>C, XM_005271562.6:c.7085A>G, XM_005271562.5:c.7085A>C, XM_005271562.5:c.7085A>G, XM_005271562.4:c.7085A>C, XM_005271562.4:c.7085A>G, XM_005271562.3:c.7085A>C, XM_005271562.3:c.7085A>G, XM_005271562.2:c.7085A>C, XM_005271562.2:c.7085A>G, XM_005271562.1:c.7085A>C, XM_005271562.1:c.7085A>G, XM_006718843.5:c.7085A>C, XM_006718843.5:c.7085A>G, XM_006718843.4:c.7085A>C, XM_006718843.4:c.7085A>G, XM_006718843.3:c.7085A>C, XM_006718843.3:c.7085A>G, XM_006718843.2:c.7085A>C, XM_006718843.2:c.7085A>G, XM_006718843.1:c.7085A>C, XM_006718843.1:c.7085A>G, XM_011542840.4:c.7085A>C, XM_011542840.4:c.7085A>G, XM_011542840.3:c.7085A>C, XM_011542840.3:c.7085A>G, XM_011542840.2:c.7085A>C, XM_011542840.2:c.7085A>G, XM_011542840.1:c.7085A>C, XM_011542840.1:c.7085A>G, XM_011542842.4:c.6920A>C, XM_011542842.4:c.6920A>G, XM_011542842.3:c.6920A>C, XM_011542842.3:c.6920A>G, XM_011542842.2:c.6920A>C, XM_011542842.2:c.6920A>G, XM_011542842.1:c.6920A>C, XM_011542842.1:c.6920A>G, XM_011542844.4:c.6041A>C, XM_011542844.4:c.6041A>G, XM_011542844.3:c.6041A>C, XM_011542844.3:c.6041A>G, XM_011542844.2:c.6041A>C, XM_011542844.2:c.6041A>G, XM_011542844.1:c.6041A>C, XM_011542844.1:c.6041A>G, XM_017017790.3:c.7085A>C, XM_017017790.3:c.7085A>G, XM_017017790.2:c.7085A>C, XM_017017790.2:c.7085A>G, XM_017017790.1:c.7085A>C, XM_017017790.1:c.7085A>G, NM_138292.3:c.3041A>C, NM_138292.3:c.3041A>G, XM_011542843.3:c.7085A>C, XM_011542843.3:c.7085A>G, XM_011542843.2:c.7085A>C, XM_011542843.2:c.7085A>G, XM_011542843.1:c.7085A>C, XM_011542843.1:c.7085A>G, XM_006718845.3:c.3041A>C, XM_006718845.3:c.3041A>G, XM_006718845.2:c.3041A>C, XM_006718845.2:c.3041A>G, XM_006718845.1:c.3041A>C, XM_006718845.1:c.3041A>G, NM_138292.2:c.3041A>C, NM_138292.2:c.3041A>G, XM_047426977.1:c.6920A>C, XM_047426977.1:c.6920A>G, XM_047426975.1:c.7085A>C, XM_047426975.1:c.7085A>G, XM_047426979.1:c.6920A>C, XM_047426979.1:c.6920A>G, XM_047426976.1:c.7085A>C, XM_047426976.1:c.7085A>G, XM_047426978.1:c.6920A>C, XM_047426978.1:c.6920A>G, NM_138292.1:c.3041A>C, NM_138292.1:c.3041A>G, NP_000042.3:p.Glu2362Ala, NP_000042.3:p.Glu2362Gly, NP_001338763.1:p.Glu2362Ala, NP_001338763.1:p.Glu2362Gly, XP_005271619.2:p.Glu2362Ala, XP_005271619.2:p.Glu2362Gly, XP_006718906.1:p.Glu2362Ala, XP_006718906.1:p.Glu2362Gly, XP_011541142.1:p.Glu2362Ala, XP_011541142.1:p.Glu2362Gly, XP_011541144.1:p.Glu2307Ala, XP_011541144.1:p.Glu2307Gly, XP_011541146.1:p.Glu2014Ala, XP_011541146.1:p.Glu2014Gly, XP_016873279.1:p.Glu2362Ala, XP_016873279.1:p.Glu2362Gly, XP_011541145.1:p.Glu2362Ala, XP_011541145.1:p.Glu2362Gly, XP_006718908.1:p.Glu1014Ala, XP_006718908.1:p.Glu1014Gly, XP_047282933.1:p.Glu2307Ala, XP_047282933.1:p.Glu2307Gly, XP_047282931.1:p.Glu2362Ala, XP_047282931.1:p.Glu2362Gly, XP_047282935.1:p.Glu2307Ala, XP_047282935.1:p.Glu2307Gly, XP_047282932.1:p.Glu2362Ala, XP_047282932.1:p.Glu2362Gly, XP_047282934.1:p.Glu2307Ala, XP_047282934.1:p.Glu2307Gly

                                16.

                                rs1479612629 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  11:108343303 (GRCh38)
                                  11:108214030 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:108343302:G:A,NC_000011.10:108343302:G:C
                                  Gene:
                                  ATM (Varview), C11orf65 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.108343303G>A, NC_000011.10:g.108343303G>C, NC_000011.9:g.108214030G>A, NC_000011.9:g.108214030G>C, NG_054724.1:g.131530C>T, NG_054724.1:g.131530C>G, NG_009830.1:g.125472G>A, NG_009830.1:g.125472G>C, NM_000051.4:c.8350G>A, NM_000051.4:c.8350G>C, NM_000051.3:c.8350G>A, NM_000051.3:c.8350G>C, NM_001351834.2:c.8350G>A, NM_001351834.2:c.8350G>C, NM_001351834.1:c.8350G>A, NM_001351834.1:c.8350G>C, XM_005271562.6:c.8350G>A, XM_005271562.6:c.8350G>C, XM_005271562.5:c.8350G>A, XM_005271562.5:c.8350G>C, XM_005271562.4:c.8350G>A, XM_005271562.4:c.8350G>C, XM_005271562.3:c.8350G>A, XM_005271562.3:c.8350G>C, XM_005271562.2:c.8350G>A, XM_005271562.2:c.8350G>C, XM_005271562.1:c.8350G>A, XM_005271562.1:c.8350G>C, XM_006718843.5:c.8350G>A, XM_006718843.5:c.8350G>C, XM_006718843.4:c.8350G>A, XM_006718843.4:c.8350G>C, XM_006718843.3:c.8350G>A, XM_006718843.3:c.8350G>C, XM_006718843.2:c.8350G>A, XM_006718843.2:c.8350G>C, XM_006718843.1:c.8350G>A, XM_006718843.1:c.8350G>C, XM_011542840.4:c.8350G>A, XM_011542840.4:c.8350G>C, XM_011542840.3:c.8350G>A, XM_011542840.3:c.8350G>C, XM_011542840.2:c.8350G>A, XM_011542840.2:c.8350G>C, XM_011542840.1:c.8350G>A, XM_011542840.1:c.8350G>C, XM_011542842.4:c.8185G>A, XM_011542842.4:c.8185G>C, XM_011542842.3:c.8185G>A, XM_011542842.3:c.8185G>C, XM_011542842.2:c.8185G>A, XM_011542842.2:c.8185G>C, XM_011542842.1:c.8185G>A, XM_011542842.1:c.8185G>C, XM_011542844.4:c.7306G>A, XM_011542844.4:c.7306G>C, XM_011542844.3:c.7306G>A, XM_011542844.3:c.7306G>C, XM_011542844.2:c.7306G>A, XM_011542844.2:c.7306G>C, XM_011542844.1:c.7306G>A, XM_011542844.1:c.7306G>C, XM_017017790.3:c.8350G>A, XM_017017790.3:c.8350G>C, XM_017017790.2:c.8350G>A, XM_017017790.2:c.8350G>C, XM_017017790.1:c.8350G>A, XM_017017790.1:c.8350G>C, NM_138292.3:c.4306G>A, NM_138292.3:c.4306G>C, XM_011542843.3:c.8350G>A, XM_011542843.3:c.8350G>C, XM_011542843.2:c.8350G>A, XM_011542843.2:c.8350G>C, XM_011542843.1:c.8350G>A, XM_011542843.1:c.8350G>C, XM_006718845.3:c.4306G>A, XM_006718845.3:c.4306G>C, XM_006718845.2:c.4306G>A, XM_006718845.2:c.4306G>C, XM_006718845.1:c.4306G>A, XM_006718845.1:c.4306G>C, NM_138292.2:c.4306G>A, NM_138292.2:c.4306G>C, XM_047426977.1:c.8185G>A, XM_047426977.1:c.8185G>C, XM_047426975.1:c.8350G>A, XM_047426975.1:c.8350G>C, XM_047426979.1:c.8185G>A, XM_047426979.1:c.8185G>C, XM_047426976.1:c.8350G>A, XM_047426976.1:c.8350G>C, XM_047426978.1:c.8185G>A, XM_047426978.1:c.8185G>C, NM_138292.1:c.4306G>A, NM_138292.1:c.4306G>C, NP_000042.3:p.Glu2784Lys, NP_000042.3:p.Glu2784Gln, NP_001338763.1:p.Glu2784Lys, NP_001338763.1:p.Glu2784Gln, XP_005271619.2:p.Glu2784Lys, XP_005271619.2:p.Glu2784Gln, XP_006718906.1:p.Glu2784Lys, XP_006718906.1:p.Glu2784Gln, XP_011541142.1:p.Glu2784Lys, XP_011541142.1:p.Glu2784Gln, XP_011541144.1:p.Glu2729Lys, XP_011541144.1:p.Glu2729Gln, XP_011541146.1:p.Glu2436Lys, XP_011541146.1:p.Glu2436Gln, XP_016873279.1:p.Glu2784Lys, XP_016873279.1:p.Glu2784Gln, XP_011541145.1:p.Glu2784Lys, XP_011541145.1:p.Glu2784Gln, XP_006718908.1:p.Glu1436Lys, XP_006718908.1:p.Glu1436Gln, XP_047282933.1:p.Glu2729Lys, XP_047282933.1:p.Glu2729Gln, XP_047282931.1:p.Glu2784Lys, XP_047282931.1:p.Glu2784Gln, XP_047282935.1:p.Glu2729Lys, XP_047282935.1:p.Glu2729Gln, XP_047282932.1:p.Glu2784Lys, XP_047282932.1:p.Glu2784Gln, XP_047282934.1:p.Glu2729Lys, XP_047282934.1:p.Glu2729Gln

                                  17.

                                  rs1479487529 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    11:108327700 (GRCh38)
                                    11:108198427 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:108327699:G:A,NC_000011.10:108327699:G:C
                                    Gene:
                                    ATM (Varview), C11orf65 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.108327700G>A, NC_000011.10:g.108327700G>C, NC_000011.9:g.108198427G>A, NC_000011.9:g.108198427G>C, NG_054724.1:g.147133C>T, NG_054724.1:g.147133C>G, NG_009830.1:g.109869G>A, NG_009830.1:g.109869G>C, NM_000051.4:c.7031G>A, NM_000051.4:c.7031G>C, NM_000051.3:c.7031G>A, NM_000051.3:c.7031G>C, NM_001351834.2:c.7031G>A, NM_001351834.2:c.7031G>C, NM_001351834.1:c.7031G>A, NM_001351834.1:c.7031G>C, XM_005271562.6:c.7031G>A, XM_005271562.6:c.7031G>C, XM_005271562.5:c.7031G>A, XM_005271562.5:c.7031G>C, XM_005271562.4:c.7031G>A, XM_005271562.4:c.7031G>C, XM_005271562.3:c.7031G>A, XM_005271562.3:c.7031G>C, XM_005271562.2:c.7031G>A, XM_005271562.2:c.7031G>C, XM_005271562.1:c.7031G>A, XM_005271562.1:c.7031G>C, XM_006718843.5:c.7031G>A, XM_006718843.5:c.7031G>C, XM_006718843.4:c.7031G>A, XM_006718843.4:c.7031G>C, XM_006718843.3:c.7031G>A, XM_006718843.3:c.7031G>C, XM_006718843.2:c.7031G>A, XM_006718843.2:c.7031G>C, XM_006718843.1:c.7031G>A, XM_006718843.1:c.7031G>C, XM_011542840.4:c.7031G>A, XM_011542840.4:c.7031G>C, XM_011542840.3:c.7031G>A, XM_011542840.3:c.7031G>C, XM_011542840.2:c.7031G>A, XM_011542840.2:c.7031G>C, XM_011542840.1:c.7031G>A, XM_011542840.1:c.7031G>C, XM_011542842.4:c.6866G>A, XM_011542842.4:c.6866G>C, XM_011542842.3:c.6866G>A, XM_011542842.3:c.6866G>C, XM_011542842.2:c.6866G>A, XM_011542842.2:c.6866G>C, XM_011542842.1:c.6866G>A, XM_011542842.1:c.6866G>C, XM_011542844.4:c.5987G>A, XM_011542844.4:c.5987G>C, XM_011542844.3:c.5987G>A, XM_011542844.3:c.5987G>C, XM_011542844.2:c.5987G>A, XM_011542844.2:c.5987G>C, XM_011542844.1:c.5987G>A, XM_011542844.1:c.5987G>C, XM_017017790.3:c.7031G>A, XM_017017790.3:c.7031G>C, XM_017017790.2:c.7031G>A, XM_017017790.2:c.7031G>C, XM_017017790.1:c.7031G>A, XM_017017790.1:c.7031G>C, NM_138292.3:c.2987G>A, NM_138292.3:c.2987G>C, XM_011542843.3:c.7031G>A, XM_011542843.3:c.7031G>C, XM_011542843.2:c.7031G>A, XM_011542843.2:c.7031G>C, XM_011542843.1:c.7031G>A, XM_011542843.1:c.7031G>C, XM_006718845.3:c.2987G>A, XM_006718845.3:c.2987G>C, XM_006718845.2:c.2987G>A, XM_006718845.2:c.2987G>C, XM_006718845.1:c.2987G>A, XM_006718845.1:c.2987G>C, NM_138292.2:c.2987G>A, NM_138292.2:c.2987G>C, XM_047426977.1:c.6866G>A, XM_047426977.1:c.6866G>C, XM_047426975.1:c.7031G>A, XM_047426975.1:c.7031G>C, XM_047426979.1:c.6866G>A, XM_047426979.1:c.6866G>C, XM_047426976.1:c.7031G>A, XM_047426976.1:c.7031G>C, XM_047426978.1:c.6866G>A, XM_047426978.1:c.6866G>C, NM_138292.1:c.2987G>A, NM_138292.1:c.2987G>C, NP_000042.3:p.Trp2344Ter, NP_000042.3:p.Trp2344Ser, NP_001338763.1:p.Trp2344Ter, NP_001338763.1:p.Trp2344Ser, XP_005271619.2:p.Trp2344Ter, XP_005271619.2:p.Trp2344Ser, XP_006718906.1:p.Trp2344Ter, XP_006718906.1:p.Trp2344Ser, XP_011541142.1:p.Trp2344Ter, XP_011541142.1:p.Trp2344Ser, XP_011541144.1:p.Trp2289Ter, XP_011541144.1:p.Trp2289Ser, XP_011541146.1:p.Trp1996Ter, XP_011541146.1:p.Trp1996Ser, XP_016873279.1:p.Trp2344Ter, XP_016873279.1:p.Trp2344Ser, XP_011541145.1:p.Trp2344Ter, XP_011541145.1:p.Trp2344Ser, XP_006718908.1:p.Trp996Ter, XP_006718908.1:p.Trp996Ser, XP_047282933.1:p.Trp2289Ter, XP_047282933.1:p.Trp2289Ser, XP_047282931.1:p.Trp2344Ter, XP_047282931.1:p.Trp2344Ser, XP_047282935.1:p.Trp2289Ter, XP_047282935.1:p.Trp2289Ser, XP_047282932.1:p.Trp2344Ter, XP_047282932.1:p.Trp2344Ser, XP_047282934.1:p.Trp2289Ter, XP_047282934.1:p.Trp2289Ser

                                    18.

                                    rs1479339581 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      11:108326118 (GRCh38)
                                      11:108196845 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:108326117:G:A,NC_000011.10:108326117:G:C
                                      Gene:
                                      ATM (Varview), C11orf65 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000011.10:g.108326118G>A, NC_000011.10:g.108326118G>C, NC_000011.9:g.108196845G>A, NC_000011.9:g.108196845G>C, NG_054724.1:g.148715C>T, NG_054724.1:g.148715C>G, NG_009830.1:g.108287G>A, NG_009830.1:g.108287G>C, NM_000051.4:c.6868G>A, NM_000051.4:c.6868G>C, NM_000051.3:c.6868G>A, NM_000051.3:c.6868G>C, NM_001351834.2:c.6868G>A, NM_001351834.2:c.6868G>C, NM_001351834.1:c.6868G>A, NM_001351834.1:c.6868G>C, XM_005271562.6:c.6868G>A, XM_005271562.6:c.6868G>C, XM_005271562.5:c.6868G>A, XM_005271562.5:c.6868G>C, XM_005271562.4:c.6868G>A, XM_005271562.4:c.6868G>C, XM_005271562.3:c.6868G>A, XM_005271562.3:c.6868G>C, XM_005271562.2:c.6868G>A, XM_005271562.2:c.6868G>C, XM_005271562.1:c.6868G>A, XM_005271562.1:c.6868G>C, XM_006718843.5:c.6868G>A, XM_006718843.5:c.6868G>C, XM_006718843.4:c.6868G>A, XM_006718843.4:c.6868G>C, XM_006718843.3:c.6868G>A, XM_006718843.3:c.6868G>C, XM_006718843.2:c.6868G>A, XM_006718843.2:c.6868G>C, XM_006718843.1:c.6868G>A, XM_006718843.1:c.6868G>C, XM_011542840.4:c.6868G>A, XM_011542840.4:c.6868G>C, XM_011542840.3:c.6868G>A, XM_011542840.3:c.6868G>C, XM_011542840.2:c.6868G>A, XM_011542840.2:c.6868G>C, XM_011542840.1:c.6868G>A, XM_011542840.1:c.6868G>C, XM_011542842.4:c.6703G>A, XM_011542842.4:c.6703G>C, XM_011542842.3:c.6703G>A, XM_011542842.3:c.6703G>C, XM_011542842.2:c.6703G>A, XM_011542842.2:c.6703G>C, XM_011542842.1:c.6703G>A, XM_011542842.1:c.6703G>C, XM_011542844.4:c.5824G>A, XM_011542844.4:c.5824G>C, XM_011542844.3:c.5824G>A, XM_011542844.3:c.5824G>C, XM_011542844.2:c.5824G>A, XM_011542844.2:c.5824G>C, XM_011542844.1:c.5824G>A, XM_011542844.1:c.5824G>C, XM_017017790.3:c.6868G>A, XM_017017790.3:c.6868G>C, XM_017017790.2:c.6868G>A, XM_017017790.2:c.6868G>C, XM_017017790.1:c.6868G>A, XM_017017790.1:c.6868G>C, NM_138292.3:c.2824G>A, NM_138292.3:c.2824G>C, XM_011542843.3:c.6868G>A, XM_011542843.3:c.6868G>C, XM_011542843.2:c.6868G>A, XM_011542843.2:c.6868G>C, XM_011542843.1:c.6868G>A, XM_011542843.1:c.6868G>C, XM_006718845.3:c.2824G>A, XM_006718845.3:c.2824G>C, XM_006718845.2:c.2824G>A, XM_006718845.2:c.2824G>C, XM_006718845.1:c.2824G>A, XM_006718845.1:c.2824G>C, NM_138292.2:c.2824G>A, NM_138292.2:c.2824G>C, XM_047426977.1:c.6703G>A, XM_047426977.1:c.6703G>C, XM_047426975.1:c.6868G>A, XM_047426975.1:c.6868G>C, XM_047426979.1:c.6703G>A, XM_047426979.1:c.6703G>C, XM_047426976.1:c.6868G>A, XM_047426976.1:c.6868G>C, XM_047426978.1:c.6703G>A, XM_047426978.1:c.6703G>C, NM_138292.1:c.2824G>A, NM_138292.1:c.2824G>C, NP_000042.3:p.Glu2290Lys, NP_000042.3:p.Glu2290Gln, NP_001338763.1:p.Glu2290Lys, NP_001338763.1:p.Glu2290Gln, XP_005271619.2:p.Glu2290Lys, XP_005271619.2:p.Glu2290Gln, XP_006718906.1:p.Glu2290Lys, XP_006718906.1:p.Glu2290Gln, XP_011541142.1:p.Glu2290Lys, XP_011541142.1:p.Glu2290Gln, XP_011541144.1:p.Glu2235Lys, XP_011541144.1:p.Glu2235Gln, XP_011541146.1:p.Glu1942Lys, XP_011541146.1:p.Glu1942Gln, XP_016873279.1:p.Glu2290Lys, XP_016873279.1:p.Glu2290Gln, XP_011541145.1:p.Glu2290Lys, XP_011541145.1:p.Glu2290Gln, XP_006718908.1:p.Glu942Lys, XP_006718908.1:p.Glu942Gln, XP_047282933.1:p.Glu2235Lys, XP_047282933.1:p.Glu2235Gln, XP_047282931.1:p.Glu2290Lys, XP_047282931.1:p.Glu2290Gln, XP_047282935.1:p.Glu2235Lys, XP_047282935.1:p.Glu2235Gln, XP_047282932.1:p.Glu2290Lys, XP_047282932.1:p.Glu2290Gln, XP_047282934.1:p.Glu2235Lys, XP_047282934.1:p.Glu2235Gln

                                      19.

                                      rs1476881353 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        11:108365120 (GRCh38)
                                        11:108235847 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:108365119:T:A,NC_000011.10:108365119:T:C
                                        Gene:
                                        ATM (Varview), C11orf65 (Varview)
                                        Functional Consequence:
                                        intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Clinical significance:
                                        likely-benign,uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.108365120T>A, NC_000011.10:g.108365120T>C, NC_000011.9:g.108235847T>A, NC_000011.9:g.108235847T>C, NG_054724.1:g.109713A>T, NG_054724.1:g.109713A>G, NG_009830.1:g.147289T>A, NG_009830.1:g.147289T>C, NM_000051.4:c.8889T>A, NM_000051.4:c.8889T>C, NM_000051.3:c.8889T>A, NM_000051.3:c.8889T>C, NM_001351834.2:c.8889T>A, NM_001351834.2:c.8889T>C, NM_001351834.1:c.8889T>A, NM_001351834.1:c.8889T>C, XM_005271562.6:c.8889T>A, XM_005271562.6:c.8889T>C, XM_005271562.5:c.8889T>A, XM_005271562.5:c.8889T>C, XM_005271562.4:c.8889T>A, XM_005271562.4:c.8889T>C, XM_005271562.3:c.8889T>A, XM_005271562.3:c.8889T>C, XM_005271562.2:c.8889T>A, XM_005271562.2:c.8889T>C, XM_005271562.1:c.8889T>A, XM_005271562.1:c.8889T>C, XM_006718843.5:c.8889T>A, XM_006718843.5:c.8889T>C, XM_006718843.4:c.8889T>A, XM_006718843.4:c.8889T>C, XM_006718843.3:c.8889T>A, XM_006718843.3:c.8889T>C, XM_006718843.2:c.8889T>A, XM_006718843.2:c.8889T>C, XM_006718843.1:c.8889T>A, XM_006718843.1:c.8889T>C, XM_011542840.4:c.8889T>A, XM_011542840.4:c.8889T>C, XM_011542840.3:c.8889T>A, XM_011542840.3:c.8889T>C, XM_011542840.2:c.8889T>A, XM_011542840.2:c.8889T>C, XM_011542840.1:c.8889T>A, XM_011542840.1:c.8889T>C, XM_011542842.4:c.8724T>A, XM_011542842.4:c.8724T>C, XM_011542842.3:c.8724T>A, XM_011542842.3:c.8724T>C, XM_011542842.2:c.8724T>A, XM_011542842.2:c.8724T>C, XM_011542842.1:c.8724T>A, XM_011542842.1:c.8724T>C, XM_011542844.4:c.7845T>A, XM_011542844.4:c.7845T>C, XM_011542844.3:c.7845T>A, XM_011542844.3:c.7845T>C, XM_011542844.2:c.7845T>A, XM_011542844.2:c.7845T>C, XM_011542844.1:c.7845T>A, XM_011542844.1:c.7845T>C, XM_017017790.3:c.8889T>A, XM_017017790.3:c.8889T>C, XM_017017790.2:c.8889T>A, XM_017017790.2:c.8889T>C, XM_017017790.1:c.8889T>A, XM_017017790.1:c.8889T>C, NM_138292.3:c.4845T>A, NM_138292.3:c.4845T>C, XM_006718845.3:c.4845T>A, XM_006718845.3:c.4845T>C, XM_006718845.2:c.4845T>A, XM_006718845.2:c.4845T>C, XM_006718845.1:c.4845T>A, XM_006718845.1:c.4845T>C, NM_138292.2:c.4845T>A, NM_138292.2:c.4845T>C, XM_047426977.1:c.8724T>A, XM_047426977.1:c.8724T>C, XM_047426975.1:c.8889T>A, XM_047426975.1:c.8889T>C, XM_047426979.1:c.8724T>A, XM_047426979.1:c.8724T>C, XM_047426976.1:c.8889T>A, XM_047426976.1:c.8889T>C, XM_047426978.1:c.8724T>A, XM_047426978.1:c.8724T>C, NM_138292.1:c.4845T>A, NM_138292.1:c.4845T>C, NP_000042.3:p.Asn2963Lys, NP_001338763.1:p.Asn2963Lys, XP_005271619.2:p.Asn2963Lys, XP_006718906.1:p.Asn2963Lys, XP_011541142.1:p.Asn2963Lys, XP_011541144.1:p.Asn2908Lys, XP_011541146.1:p.Asn2615Lys, XP_016873279.1:p.Asn2963Lys, XP_006718908.1:p.Asn1615Lys, XP_047282933.1:p.Asn2908Lys, XP_047282931.1:p.Asn2963Lys, XP_047282935.1:p.Asn2908Lys, XP_047282932.1:p.Asn2963Lys, XP_047282934.1:p.Asn2908Lys

                                        20.

                                        rs1476573499 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G,T [Show Flanks]
                                          Chromosome:
                                          11:108294950 (GRCh38)
                                          11:108165677 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:108294949:A:C,NC_000011.10:108294949:A:G,NC_000011.10:108294949:A:T
                                          Gene:
                                          ATM (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.108294950A>C, NC_000011.10:g.108294950A>G, NC_000011.10:g.108294950A>T, NC_000011.9:g.108165677A>C, NC_000011.9:g.108165677A>G, NC_000011.9:g.108165677A>T, NG_009830.1:g.77119A>C, NG_009830.1:g.77119A>G, NG_009830.1:g.77119A>T, NM_000051.4:c.4800A>C, NM_000051.4:c.4800A>G, NM_000051.4:c.4800A>T, NM_000051.3:c.4800A>C, NM_000051.3:c.4800A>G, NM_000051.3:c.4800A>T, NM_001351834.2:c.4800A>C, NM_001351834.2:c.4800A>G, NM_001351834.2:c.4800A>T, NM_001351834.1:c.4800A>C, NM_001351834.1:c.4800A>G, NM_001351834.1:c.4800A>T, XM_005271562.6:c.4800A>C, XM_005271562.6:c.4800A>G, XM_005271562.6:c.4800A>T, XM_005271562.5:c.4800A>C, XM_005271562.5:c.4800A>G, XM_005271562.5:c.4800A>T, XM_005271562.4:c.4800A>C, XM_005271562.4:c.4800A>G, XM_005271562.4:c.4800A>T, XM_005271562.3:c.4800A>C, XM_005271562.3:c.4800A>G, XM_005271562.3:c.4800A>T, XM_005271562.2:c.4800A>C, XM_005271562.2:c.4800A>G, XM_005271562.2:c.4800A>T, XM_005271562.1:c.4800A>C, XM_005271562.1:c.4800A>G, XM_005271562.1:c.4800A>T, XM_006718843.5:c.4800A>C, XM_006718843.5:c.4800A>G, XM_006718843.5:c.4800A>T, XM_006718843.4:c.4800A>C, XM_006718843.4:c.4800A>G, XM_006718843.4:c.4800A>T, XM_006718843.3:c.4800A>C, XM_006718843.3:c.4800A>G, XM_006718843.3:c.4800A>T, XM_006718843.2:c.4800A>C, XM_006718843.2:c.4800A>G, XM_006718843.2:c.4800A>T, XM_006718843.1:c.4800A>C, XM_006718843.1:c.4800A>G, XM_006718843.1:c.4800A>T, XM_011542840.4:c.4800A>C, XM_011542840.4:c.4800A>G, XM_011542840.4:c.4800A>T, XM_011542840.3:c.4800A>C, XM_011542840.3:c.4800A>G, XM_011542840.3:c.4800A>T, XM_011542840.2:c.4800A>C, XM_011542840.2:c.4800A>G, XM_011542840.2:c.4800A>T, XM_011542840.1:c.4800A>C, XM_011542840.1:c.4800A>G, XM_011542840.1:c.4800A>T, XM_011542842.4:c.4635A>C, XM_011542842.4:c.4635A>G, XM_011542842.4:c.4635A>T, XM_011542842.3:c.4635A>C, XM_011542842.3:c.4635A>G, XM_011542842.3:c.4635A>T, XM_011542842.2:c.4635A>C, XM_011542842.2:c.4635A>G, XM_011542842.2:c.4635A>T, XM_011542842.1:c.4635A>C, XM_011542842.1:c.4635A>G, XM_011542842.1:c.4635A>T, XM_011542844.4:c.3756A>C, XM_011542844.4:c.3756A>G, XM_011542844.4:c.3756A>T, XM_011542844.3:c.3756A>C, XM_011542844.3:c.3756A>G, XM_011542844.3:c.3756A>T, XM_011542844.2:c.3756A>C, XM_011542844.2:c.3756A>G, XM_011542844.2:c.3756A>T, XM_011542844.1:c.3756A>C, XM_011542844.1:c.3756A>G, XM_011542844.1:c.3756A>T, XM_017017790.3:c.4800A>C, XM_017017790.3:c.4800A>G, XM_017017790.3:c.4800A>T, XM_017017790.2:c.4800A>C, XM_017017790.2:c.4800A>G, XM_017017790.2:c.4800A>T, XM_017017790.1:c.4800A>C, XM_017017790.1:c.4800A>G, XM_017017790.1:c.4800A>T, NM_138292.3:c.756A>C, NM_138292.3:c.756A>G, NM_138292.3:c.756A>T, XM_011542843.3:c.4800A>C, XM_011542843.3:c.4800A>G, XM_011542843.3:c.4800A>T, XM_011542843.2:c.4800A>C, XM_011542843.2:c.4800A>G, XM_011542843.2:c.4800A>T, XM_011542843.1:c.4800A>C, XM_011542843.1:c.4800A>G, XM_011542843.1:c.4800A>T, XM_006718845.3:c.756A>C, XM_006718845.3:c.756A>G, XM_006718845.3:c.756A>T, XM_006718845.2:c.756A>C, XM_006718845.2:c.756A>G, XM_006718845.2:c.756A>T, XM_006718845.1:c.756A>C, XM_006718845.1:c.756A>G, XM_006718845.1:c.756A>T, NM_138292.2:c.756A>C, NM_138292.2:c.756A>G, NM_138292.2:c.756A>T, XM_047426977.1:c.4635A>C, XM_047426977.1:c.4635A>G, XM_047426977.1:c.4635A>T, XM_047426975.1:c.4800A>C, XM_047426975.1:c.4800A>G, XM_047426975.1:c.4800A>T, XM_047426979.1:c.4635A>C, XM_047426979.1:c.4635A>G, XM_047426979.1:c.4635A>T, XM_047426976.1:c.4800A>C, XM_047426976.1:c.4800A>G, XM_047426976.1:c.4800A>T, XM_047426978.1:c.4635A>C, XM_047426978.1:c.4635A>G, XM_047426978.1:c.4635A>T, NM_138292.1:c.756A>C, NM_138292.1:c.756A>G, NM_138292.1:c.756A>T

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