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Items: 1 to 20 of 1538

1.

rs1490874567 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    14:71671646 (GRCh38)
    14:72138364 (GRCh37)
    Canonical SPDI:
    NC_000014.9:71671646:TTTT:TTTTT
    Gene:
    SIPA1L1 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTTTT=0./0 (ALFA)
    HGVS:
    NC_000014.9:g.71671650dup, NC_000014.8:g.72138367dup, XM_005267516.5:c.2787dup, XM_005267516.4:c.2787dup, XM_005267516.3:c.2787dup, XM_005267516.2:c.2787dup, XM_005267516.1:c.2787dup, NM_015556.4:c.2787dup, NM_015556.3:c.2787dup, NM_015556.2:c.2787dup, NM_015556.1:c.2787dup, NM_001284247.3:c.2787dup, NM_001284247.2:c.2787dup, NM_001284247.1:c.2787dup, NM_001284245.3:c.2787dup, NM_001284245.2:c.2787dup, NM_001284245.1:c.2787dup, XM_011536638.3:c.1212dup, XM_011536638.2:c.1212dup, XM_011536638.1:c.1212dup, XM_011536632.2:c.2787dup, XM_011536632.1:c.2787dup, XM_017021185.2:c.2787dup, XM_017021185.1:c.2787dup, NM_001284246.2:c.2787dup, NM_001284246.1:c.2787dup, XM_024449529.2:c.2787dup, XM_024449529.1:c.2787dup, NM_001354286.2:c.2787dup, NM_001354286.1:c.2787dup, NM_001354285.2:c.2787dup, NM_001354285.1:c.2787dup, NM_001354288.2:c.2787dup, NM_001354288.1:c.2787dup, NM_001354287.2:c.2787dup, NM_001354287.1:c.2787dup, NM_001354289.2:c.1305dup, NM_001354289.1:c.1305dup, XM_017021198.2:c.1305dup, XM_017021198.1:c.1305dup, XM_047431220.1:c.2787dup, XM_047431214.1:c.2787dup, XM_047431215.1:c.2787dup, XM_047431213.1:c.2787dup, XM_047431226.1:c.2787dup, XM_047431212.1:c.2787dup, XM_047431227.1:c.2787dup, XM_047431211.1:c.2787dup, XM_047431232.1:c.2787dup, XM_047431228.1:c.2787dup, XM_047431222.1:c.2787dup, XM_047431233.1:c.2787dup, XM_047431234.1:c.2787dup, XM_047431225.1:c.2787dup, XM_047431235.1:c.2787dup, XM_047431236.1:c.2787dup, XM_047431237.1:c.2787dup, XM_047431216.1:c.2787dup, XM_047431217.1:c.2787dup, XM_047431229.1:c.2787dup, XM_047431223.1:c.2787dup, XM_047431218.1:c.2787dup, XM_047431209.1:c.2787dup, XM_047431224.1:c.2787dup, XM_047431219.1:c.2787dup, XM_047431240.1:c.1305dup, XM_047431231.1:c.2787dup, NM_001386936.1:c.2787dup, XM_047431244.1:c.1305dup, XM_047431248.1:c.1305dup, XM_047431241.1:c.1305dup, XM_047431250.1:c.1305dup, XM_047431251.1:c.1305dup, XM_047431239.1:c.1305dup, XM_047431243.1:c.1305dup, XM_047431245.1:c.1305dup, XM_047431238.1:c.1305dup, XM_047431253.1:c.1305dup, XM_047431246.1:c.1305dup, XM_047431242.1:c.1305dup, XM_047431247.1:c.1305dup, XM_047431249.1:c.1305dup, XM_047431252.1:c.1305dup, XP_005267573.1:p.Ile930fs, NP_056371.1:p.Ile930fs, NP_001271176.1:p.Ile930fs, NP_001271174.1:p.Ile930fs, XP_011534940.1:p.Ile405fs, XP_011534934.1:p.Ile930fs, XP_016876674.1:p.Ile930fs, NP_001271175.1:p.Ile930fs, XP_024305297.1:p.Ile930fs, NP_001341215.1:p.Ile930fs, NP_001341214.1:p.Ile930fs, NP_001341217.1:p.Ile930fs, NP_001341216.1:p.Ile930fs, NP_001341218.1:p.Ile436fs, XP_016876687.1:p.Ile436fs, XP_047287176.1:p.Ile930fs, XP_047287170.1:p.Ile930fs, XP_047287171.1:p.Ile930fs, XP_047287169.1:p.Ile930fs, XP_047287182.1:p.Ile930fs, XP_047287168.1:p.Ile930fs, XP_047287183.1:p.Ile930fs, XP_047287167.1:p.Ile930fs, XP_047287188.1:p.Ile930fs, XP_047287184.1:p.Ile930fs, XP_047287178.1:p.Ile930fs, XP_047287189.1:p.Ile930fs, XP_047287190.1:p.Ile930fs, XP_047287181.1:p.Ile930fs, XP_047287191.1:p.Ile930fs, XP_047287192.1:p.Ile930fs, XP_047287193.1:p.Ile930fs, XP_047287172.1:p.Ile930fs, XP_047287173.1:p.Ile930fs, XP_047287185.1:p.Ile930fs, XP_047287179.1:p.Ile930fs, XP_047287174.1:p.Ile930fs, XP_047287165.1:p.Ile930fs, XP_047287180.1:p.Ile930fs, XP_047287175.1:p.Ile930fs, XP_047287196.1:p.Ile436fs, XP_047287187.1:p.Ile930fs, NP_001373865.1:p.Ile930fs, XP_047287200.1:p.Ile436fs, XP_047287204.1:p.Ile436fs, XP_047287197.1:p.Ile436fs, XP_047287206.1:p.Ile436fs, XP_047287207.1:p.Ile436fs, XP_047287195.1:p.Ile436fs, XP_047287199.1:p.Ile436fs, XP_047287201.1:p.Ile436fs, XP_047287194.1:p.Ile436fs, XP_047287209.1:p.Ile436fs, XP_047287202.1:p.Ile436fs, XP_047287198.1:p.Ile436fs, XP_047287203.1:p.Ile436fs, XP_047287205.1:p.Ile436fs, XP_047287208.1:p.Ile436fs

    2.

    rs1490864203 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      14:71587907 (GRCh38)
      14:72054624 (GRCh37)
      Canonical SPDI:
      NC_000014.9:71587906:C:G
      Gene:
      SIPA1L1 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.71587907C>G, NC_000014.8:g.72054624C>G, XM_005267516.5:c.35C>G, XM_005267516.4:c.35C>G, XM_005267516.3:c.35C>G, XM_005267516.2:c.35C>G, XM_005267516.1:c.35C>G, NM_015556.4:c.35C>G, NM_015556.3:c.35C>G, NM_015556.2:c.35C>G, NM_015556.1:c.35C>G, NM_001284247.3:c.35C>G, NM_001284247.2:c.35C>G, NM_001284247.1:c.35C>G, NM_001284245.3:c.35C>G, NM_001284245.2:c.35C>G, NM_001284245.1:c.35C>G, XM_011536632.2:c.35C>G, XM_011536632.1:c.35C>G, XM_017021185.2:c.35C>G, XM_017021185.1:c.35C>G, NM_001284246.2:c.35C>G, NM_001284246.1:c.35C>G, XM_024449529.2:c.35C>G, XM_024449529.1:c.35C>G, NM_001354286.2:c.35C>G, NM_001354286.1:c.35C>G, NM_001354285.2:c.35C>G, NM_001354285.1:c.35C>G, NM_001354288.2:c.35C>G, NM_001354288.1:c.35C>G, NM_001354287.2:c.35C>G, NM_001354287.1:c.35C>G, XM_047431220.1:c.35C>G, XM_047431214.1:c.35C>G, XM_047431215.1:c.35C>G, XM_047431213.1:c.35C>G, XM_047431226.1:c.35C>G, XM_047431212.1:c.35C>G, XM_047431227.1:c.35C>G, XM_047431211.1:c.35C>G, XM_047431232.1:c.35C>G, XM_047431228.1:c.35C>G, XM_047431222.1:c.35C>G, XM_047431233.1:c.35C>G, XM_047431234.1:c.35C>G, XM_047431225.1:c.35C>G, XM_047431235.1:c.35C>G, XM_047431236.1:c.35C>G, XM_047431237.1:c.35C>G, XM_047431216.1:c.35C>G, XM_047431217.1:c.35C>G, XM_047431229.1:c.35C>G, XM_047431223.1:c.35C>G, XM_047431218.1:c.35C>G, XM_047431209.1:c.35C>G, XM_047431224.1:c.35C>G, XM_047431219.1:c.35C>G, XM_047431231.1:c.35C>G, NM_001386936.1:c.35C>G, XP_005267573.1:p.Pro12Arg, NP_056371.1:p.Pro12Arg, NP_001271176.1:p.Pro12Arg, NP_001271174.1:p.Pro12Arg, XP_011534934.1:p.Pro12Arg, XP_016876674.1:p.Pro12Arg, NP_001271175.1:p.Pro12Arg, XP_024305297.1:p.Pro12Arg, NP_001341215.1:p.Pro12Arg, NP_001341214.1:p.Pro12Arg, NP_001341217.1:p.Pro12Arg, NP_001341216.1:p.Pro12Arg, XP_047287176.1:p.Pro12Arg, XP_047287170.1:p.Pro12Arg, XP_047287171.1:p.Pro12Arg, XP_047287169.1:p.Pro12Arg, XP_047287182.1:p.Pro12Arg, XP_047287168.1:p.Pro12Arg, XP_047287183.1:p.Pro12Arg, XP_047287167.1:p.Pro12Arg, XP_047287188.1:p.Pro12Arg, XP_047287184.1:p.Pro12Arg, XP_047287178.1:p.Pro12Arg, XP_047287189.1:p.Pro12Arg, XP_047287190.1:p.Pro12Arg, XP_047287181.1:p.Pro12Arg, XP_047287191.1:p.Pro12Arg, XP_047287192.1:p.Pro12Arg, XP_047287193.1:p.Pro12Arg, XP_047287172.1:p.Pro12Arg, XP_047287173.1:p.Pro12Arg, XP_047287185.1:p.Pro12Arg, XP_047287179.1:p.Pro12Arg, XP_047287174.1:p.Pro12Arg, XP_047287165.1:p.Pro12Arg, XP_047287180.1:p.Pro12Arg, XP_047287175.1:p.Pro12Arg, XP_047287187.1:p.Pro12Arg, NP_001373865.1:p.Pro12Arg

      3.

      rs1490205959 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        14:71723702 (GRCh38)
        14:72190419 (GRCh37)
        Canonical SPDI:
        NC_000014.9:71723701:T:C
        Gene:
        SIPA1L1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000014.9:g.71723702T>C, NC_000014.8:g.72190419T>C, XM_005267516.5:c.4327T>C, XM_005267516.4:c.4327T>C, XM_005267516.3:c.4327T>C, XM_005267516.2:c.4327T>C, XM_005267516.1:c.4327T>C, NM_015556.4:c.4327T>C, NM_015556.3:c.4327T>C, NM_015556.2:c.4327T>C, NM_015556.1:c.4327T>C, NM_001284247.3:c.4327T>C, NM_001284247.2:c.4327T>C, NM_001284247.1:c.4327T>C, NM_001284245.3:c.4264T>C, NM_001284245.2:c.4264T>C, NM_001284245.1:c.4264T>C, XM_011536638.3:c.2752T>C, XM_011536638.2:c.2752T>C, XM_011536638.1:c.2752T>C, XM_011536632.2:c.4327T>C, XM_011536632.1:c.4327T>C, XM_017021185.2:c.4327T>C, XM_017021185.1:c.4327T>C, NM_001284246.2:c.4264T>C, NM_001284246.1:c.4264T>C, XM_024449529.2:c.4327T>C, XM_024449529.1:c.4327T>C, NM_001354286.2:c.4264T>C, NM_001354286.1:c.4264T>C, NM_001354285.2:c.4327T>C, NM_001354285.1:c.4327T>C, NM_001354288.2:c.4264T>C, NM_001354288.1:c.4264T>C, NM_001354287.2:c.4264T>C, NM_001354287.1:c.4264T>C, NM_001354289.2:c.2782T>C, NM_001354289.1:c.2782T>C, XM_017021198.2:c.2845T>C, XM_017021198.1:c.2845T>C, XM_047431220.1:c.4327T>C, XM_047431214.1:c.4327T>C, XM_047431215.1:c.4327T>C, XM_047431213.1:c.4327T>C, XM_047431226.1:c.4327T>C, XM_047431212.1:c.4327T>C, XM_047431227.1:c.4327T>C, XM_047431211.1:c.4327T>C, XM_047431232.1:c.4327T>C, XM_047431228.1:c.4327T>C, XM_047431222.1:c.4327T>C, XM_047431233.1:c.4264T>C, XM_047431234.1:c.4264T>C, XM_047431225.1:c.4327T>C, XM_047431235.1:c.4180T>C, XM_047431236.1:c.4117T>C, XM_047431237.1:c.4117T>C, XM_047431216.1:c.4327T>C, XM_047431217.1:c.4327T>C, XM_047431229.1:c.4327T>C, XM_047431223.1:c.4327T>C, XM_047431218.1:c.4327T>C, XM_047431209.1:c.4327T>C, XM_047431224.1:c.4327T>C, XM_047431219.1:c.4327T>C, XM_047431240.1:c.2845T>C, XM_047431231.1:c.4327T>C, NM_001386936.1:c.4264T>C, XM_047431244.1:c.2845T>C, XM_047431248.1:c.2782T>C, XM_047431241.1:c.2845T>C, XM_047431250.1:c.2782T>C, XM_047431251.1:c.2782T>C, XM_047431239.1:c.2845T>C, XM_047431243.1:c.2845T>C, XM_047431245.1:c.2845T>C, XM_047431238.1:c.2845T>C, XM_047431253.1:c.2782T>C, XM_047431246.1:c.2845T>C, XM_047431242.1:c.2845T>C, XM_047431247.1:c.2782T>C, XM_047431249.1:c.2782T>C, XM_047431252.1:c.2782T>C, XP_005267573.1:p.Ser1443Pro, NP_056371.1:p.Ser1443Pro, NP_001271176.1:p.Ser1443Pro, NP_001271174.1:p.Ser1422Pro, XP_011534940.1:p.Ser918Pro, XP_011534934.1:p.Ser1443Pro, XP_016876674.1:p.Ser1443Pro, NP_001271175.1:p.Ser1422Pro, XP_024305297.1:p.Ser1443Pro, NP_001341215.1:p.Ser1422Pro, NP_001341214.1:p.Ser1443Pro, NP_001341217.1:p.Ser1422Pro, NP_001341216.1:p.Ser1422Pro, NP_001341218.1:p.Ser928Pro, XP_016876687.1:p.Ser949Pro, XP_047287176.1:p.Ser1443Pro, XP_047287170.1:p.Ser1443Pro, XP_047287171.1:p.Ser1443Pro, XP_047287169.1:p.Ser1443Pro, XP_047287182.1:p.Ser1443Pro, XP_047287168.1:p.Ser1443Pro, XP_047287183.1:p.Ser1443Pro, XP_047287167.1:p.Ser1443Pro, XP_047287188.1:p.Ser1443Pro, XP_047287184.1:p.Ser1443Pro, XP_047287178.1:p.Ser1443Pro, XP_047287189.1:p.Ser1422Pro, XP_047287190.1:p.Ser1422Pro, XP_047287181.1:p.Ser1443Pro, XP_047287191.1:p.Ser1394Pro, XP_047287192.1:p.Ser1373Pro, XP_047287193.1:p.Ser1373Pro, XP_047287172.1:p.Ser1443Pro, XP_047287173.1:p.Ser1443Pro, XP_047287185.1:p.Ser1443Pro, XP_047287179.1:p.Ser1443Pro, XP_047287174.1:p.Ser1443Pro, XP_047287165.1:p.Ser1443Pro, XP_047287180.1:p.Ser1443Pro, XP_047287175.1:p.Ser1443Pro, XP_047287196.1:p.Ser949Pro, XP_047287187.1:p.Ser1443Pro, NP_001373865.1:p.Ser1422Pro, XP_047287200.1:p.Ser949Pro, XP_047287204.1:p.Ser928Pro, XP_047287197.1:p.Ser949Pro, XP_047287206.1:p.Ser928Pro, XP_047287207.1:p.Ser928Pro, XP_047287195.1:p.Ser949Pro, XP_047287199.1:p.Ser949Pro, XP_047287201.1:p.Ser949Pro, XP_047287194.1:p.Ser949Pro, XP_047287209.1:p.Ser928Pro, XP_047287202.1:p.Ser949Pro, XP_047287198.1:p.Ser949Pro, XP_047287203.1:p.Ser928Pro, XP_047287205.1:p.Ser928Pro, XP_047287208.1:p.Ser928Pro

        4.

        rs1489958715 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:71723810 (GRCh38)
          14:72190527 (GRCh37)
          Canonical SPDI:
          NC_000014.9:71723809:G:A
          Gene:
          SIPA1L1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (GnomAD_exomes)
          A=0.000035/1 (TOMMO)
          HGVS:
          NC_000014.9:g.71723810G>A, NC_000014.8:g.72190527G>A, XM_005267516.5:c.4435G>A, XM_005267516.4:c.4435G>A, XM_005267516.3:c.4435G>A, XM_005267516.2:c.4435G>A, XM_005267516.1:c.4435G>A, NM_015556.4:c.4435G>A, NM_015556.3:c.4435G>A, NM_015556.2:c.4435G>A, NM_015556.1:c.4435G>A, NM_001284247.3:c.4435G>A, NM_001284247.2:c.4435G>A, NM_001284247.1:c.4435G>A, NM_001284245.3:c.4372G>A, NM_001284245.2:c.4372G>A, NM_001284245.1:c.4372G>A, XM_011536638.3:c.2860G>A, XM_011536638.2:c.2860G>A, XM_011536638.1:c.2860G>A, XM_011536632.2:c.4435G>A, XM_011536632.1:c.4435G>A, XM_017021185.2:c.4435G>A, XM_017021185.1:c.4435G>A, NM_001284246.2:c.4372G>A, NM_001284246.1:c.4372G>A, XM_024449529.2:c.4435G>A, XM_024449529.1:c.4435G>A, NM_001354286.2:c.4372G>A, NM_001354286.1:c.4372G>A, NM_001354285.2:c.4435G>A, NM_001354285.1:c.4435G>A, NM_001354288.2:c.4372G>A, NM_001354288.1:c.4372G>A, NM_001354287.2:c.4372G>A, NM_001354287.1:c.4372G>A, NM_001354289.2:c.2890G>A, NM_001354289.1:c.2890G>A, XM_017021198.2:c.2953G>A, XM_017021198.1:c.2953G>A, XM_047431220.1:c.4435G>A, XM_047431214.1:c.4435G>A, XM_047431215.1:c.4435G>A, XM_047431213.1:c.4435G>A, XM_047431226.1:c.4435G>A, XM_047431212.1:c.4435G>A, XM_047431227.1:c.4435G>A, XM_047431211.1:c.4435G>A, XM_047431232.1:c.4435G>A, XM_047431228.1:c.4435G>A, XM_047431222.1:c.4435G>A, XM_047431233.1:c.4372G>A, XM_047431234.1:c.4372G>A, XM_047431225.1:c.4435G>A, XM_047431235.1:c.4288G>A, XM_047431236.1:c.4225G>A, XM_047431237.1:c.4225G>A, XM_047431216.1:c.4435G>A, XM_047431217.1:c.4435G>A, XM_047431229.1:c.4435G>A, XM_047431223.1:c.4435G>A, XM_047431218.1:c.4435G>A, XM_047431209.1:c.4435G>A, XM_047431224.1:c.4435G>A, XM_047431219.1:c.4435G>A, XM_047431240.1:c.2953G>A, XM_047431231.1:c.4435G>A, NM_001386936.1:c.4372G>A, XM_047431244.1:c.2953G>A, XM_047431248.1:c.2890G>A, XM_047431241.1:c.2953G>A, XM_047431250.1:c.2890G>A, XM_047431251.1:c.2890G>A, XM_047431239.1:c.2953G>A, XM_047431243.1:c.2953G>A, XM_047431245.1:c.2953G>A, XM_047431238.1:c.2953G>A, XM_047431253.1:c.2890G>A, XM_047431246.1:c.2953G>A, XM_047431242.1:c.2953G>A, XM_047431247.1:c.2890G>A, XM_047431249.1:c.2890G>A, XM_047431252.1:c.2890G>A, XP_005267573.1:p.Ala1479Thr, NP_056371.1:p.Ala1479Thr, NP_001271176.1:p.Ala1479Thr, NP_001271174.1:p.Ala1458Thr, XP_011534940.1:p.Ala954Thr, XP_011534934.1:p.Ala1479Thr, XP_016876674.1:p.Ala1479Thr, NP_001271175.1:p.Ala1458Thr, XP_024305297.1:p.Ala1479Thr, NP_001341215.1:p.Ala1458Thr, NP_001341214.1:p.Ala1479Thr, NP_001341217.1:p.Ala1458Thr, NP_001341216.1:p.Ala1458Thr, NP_001341218.1:p.Ala964Thr, XP_016876687.1:p.Ala985Thr, XP_047287176.1:p.Ala1479Thr, XP_047287170.1:p.Ala1479Thr, XP_047287171.1:p.Ala1479Thr, XP_047287169.1:p.Ala1479Thr, XP_047287182.1:p.Ala1479Thr, XP_047287168.1:p.Ala1479Thr, XP_047287183.1:p.Ala1479Thr, XP_047287167.1:p.Ala1479Thr, XP_047287188.1:p.Ala1479Thr, XP_047287184.1:p.Ala1479Thr, XP_047287178.1:p.Ala1479Thr, XP_047287189.1:p.Ala1458Thr, XP_047287190.1:p.Ala1458Thr, XP_047287181.1:p.Ala1479Thr, XP_047287191.1:p.Ala1430Thr, XP_047287192.1:p.Ala1409Thr, XP_047287193.1:p.Ala1409Thr, XP_047287172.1:p.Ala1479Thr, XP_047287173.1:p.Ala1479Thr, XP_047287185.1:p.Ala1479Thr, XP_047287179.1:p.Ala1479Thr, XP_047287174.1:p.Ala1479Thr, XP_047287165.1:p.Ala1479Thr, XP_047287180.1:p.Ala1479Thr, XP_047287175.1:p.Ala1479Thr, XP_047287196.1:p.Ala985Thr, XP_047287187.1:p.Ala1479Thr, NP_001373865.1:p.Ala1458Thr, XP_047287200.1:p.Ala985Thr, XP_047287204.1:p.Ala964Thr, XP_047287197.1:p.Ala985Thr, XP_047287206.1:p.Ala964Thr, XP_047287207.1:p.Ala964Thr, XP_047287195.1:p.Ala985Thr, XP_047287199.1:p.Ala985Thr, XP_047287201.1:p.Ala985Thr, XP_047287194.1:p.Ala985Thr, XP_047287209.1:p.Ala964Thr, XP_047287202.1:p.Ala985Thr, XP_047287198.1:p.Ala985Thr, XP_047287203.1:p.Ala964Thr, XP_047287205.1:p.Ala964Thr, XP_047287208.1:p.Ala964Thr

          5.

          rs1489047359 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            14:71589306 (GRCh38)
            14:72056023 (GRCh37)
            Canonical SPDI:
            NC_000014.9:71589305:A:C,NC_000014.9:71589305:A:G
            Gene:
            SIPA1L1 (Varview)
            Functional Consequence:
            synonymous_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            G=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.71589306A>C, NC_000014.9:g.71589306A>G, NC_000014.8:g.72056023A>C, NC_000014.8:g.72056023A>G, XM_005267516.5:c.1434A>C, XM_005267516.5:c.1434A>G, XM_005267516.4:c.1434A>C, XM_005267516.4:c.1434A>G, XM_005267516.3:c.1434A>C, XM_005267516.3:c.1434A>G, XM_005267516.2:c.1434A>C, XM_005267516.2:c.1434A>G, XM_005267516.1:c.1434A>C, XM_005267516.1:c.1434A>G, NM_015556.4:c.1434A>C, NM_015556.4:c.1434A>G, NM_015556.3:c.1434A>C, NM_015556.3:c.1434A>G, NM_015556.2:c.1434A>C, NM_015556.2:c.1434A>G, NM_015556.1:c.1434A>C, NM_015556.1:c.1434A>G, NM_001284247.3:c.1434A>C, NM_001284247.3:c.1434A>G, NM_001284247.2:c.1434A>C, NM_001284247.2:c.1434A>G, NM_001284247.1:c.1434A>C, NM_001284247.1:c.1434A>G, NM_001284245.3:c.1434A>C, NM_001284245.3:c.1434A>G, NM_001284245.2:c.1434A>C, NM_001284245.2:c.1434A>G, NM_001284245.1:c.1434A>C, NM_001284245.1:c.1434A>G, XM_011536632.2:c.1434A>C, XM_011536632.2:c.1434A>G, XM_011536632.1:c.1434A>C, XM_011536632.1:c.1434A>G, XM_017021185.2:c.1434A>C, XM_017021185.2:c.1434A>G, XM_017021185.1:c.1434A>C, XM_017021185.1:c.1434A>G, NM_001284246.2:c.1434A>C, NM_001284246.2:c.1434A>G, NM_001284246.1:c.1434A>C, NM_001284246.1:c.1434A>G, XM_024449529.2:c.1434A>C, XM_024449529.2:c.1434A>G, XM_024449529.1:c.1434A>C, XM_024449529.1:c.1434A>G, NM_001354286.2:c.1434A>C, NM_001354286.2:c.1434A>G, NM_001354286.1:c.1434A>C, NM_001354286.1:c.1434A>G, NM_001354285.2:c.1434A>C, NM_001354285.2:c.1434A>G, NM_001354285.1:c.1434A>C, NM_001354285.1:c.1434A>G, NM_001354288.2:c.1434A>C, NM_001354288.2:c.1434A>G, NM_001354288.1:c.1434A>C, NM_001354288.1:c.1434A>G, NM_001354287.2:c.1434A>C, NM_001354287.2:c.1434A>G, NM_001354287.1:c.1434A>C, NM_001354287.1:c.1434A>G, XM_047431220.1:c.1434A>C, XM_047431220.1:c.1434A>G, XM_047431214.1:c.1434A>C, XM_047431214.1:c.1434A>G, XM_047431215.1:c.1434A>C, XM_047431215.1:c.1434A>G, XM_047431213.1:c.1434A>C, XM_047431213.1:c.1434A>G, XM_047431226.1:c.1434A>C, XM_047431226.1:c.1434A>G, XM_047431212.1:c.1434A>C, XM_047431212.1:c.1434A>G, XM_047431227.1:c.1434A>C, XM_047431227.1:c.1434A>G, XM_047431211.1:c.1434A>C, XM_047431211.1:c.1434A>G, XM_047431232.1:c.1434A>C, XM_047431232.1:c.1434A>G, XM_047431228.1:c.1434A>C, XM_047431228.1:c.1434A>G, XM_047431222.1:c.1434A>C, XM_047431222.1:c.1434A>G, XM_047431233.1:c.1434A>C, XM_047431233.1:c.1434A>G, XM_047431234.1:c.1434A>C, XM_047431234.1:c.1434A>G, XM_047431225.1:c.1434A>C, XM_047431225.1:c.1434A>G, XM_047431235.1:c.1434A>C, XM_047431235.1:c.1434A>G, XM_047431236.1:c.1434A>C, XM_047431236.1:c.1434A>G, XM_047431237.1:c.1434A>C, XM_047431237.1:c.1434A>G, XM_047431216.1:c.1434A>C, XM_047431216.1:c.1434A>G, XM_047431217.1:c.1434A>C, XM_047431217.1:c.1434A>G, XM_047431229.1:c.1434A>C, XM_047431229.1:c.1434A>G, XM_047431223.1:c.1434A>C, XM_047431223.1:c.1434A>G, XM_047431218.1:c.1434A>C, XM_047431218.1:c.1434A>G, XM_047431209.1:c.1434A>C, XM_047431209.1:c.1434A>G, XM_047431224.1:c.1434A>C, XM_047431224.1:c.1434A>G, XM_047431219.1:c.1434A>C, XM_047431219.1:c.1434A>G, XM_047431231.1:c.1434A>C, XM_047431231.1:c.1434A>G, NM_001386936.1:c.1434A>C, NM_001386936.1:c.1434A>G, XP_005267573.1:p.Lys478Asn, NP_056371.1:p.Lys478Asn, NP_001271176.1:p.Lys478Asn, NP_001271174.1:p.Lys478Asn, XP_011534934.1:p.Lys478Asn, XP_016876674.1:p.Lys478Asn, NP_001271175.1:p.Lys478Asn, XP_024305297.1:p.Lys478Asn, NP_001341215.1:p.Lys478Asn, NP_001341214.1:p.Lys478Asn, NP_001341217.1:p.Lys478Asn, NP_001341216.1:p.Lys478Asn, XP_047287176.1:p.Lys478Asn, XP_047287170.1:p.Lys478Asn, XP_047287171.1:p.Lys478Asn, XP_047287169.1:p.Lys478Asn, XP_047287182.1:p.Lys478Asn, XP_047287168.1:p.Lys478Asn, XP_047287183.1:p.Lys478Asn, XP_047287167.1:p.Lys478Asn, XP_047287188.1:p.Lys478Asn, XP_047287184.1:p.Lys478Asn, XP_047287178.1:p.Lys478Asn, XP_047287189.1:p.Lys478Asn, XP_047287190.1:p.Lys478Asn, XP_047287181.1:p.Lys478Asn, XP_047287191.1:p.Lys478Asn, XP_047287192.1:p.Lys478Asn, XP_047287193.1:p.Lys478Asn, XP_047287172.1:p.Lys478Asn, XP_047287173.1:p.Lys478Asn, XP_047287185.1:p.Lys478Asn, XP_047287179.1:p.Lys478Asn, XP_047287174.1:p.Lys478Asn, XP_047287165.1:p.Lys478Asn, XP_047287180.1:p.Lys478Asn, XP_047287175.1:p.Lys478Asn, XP_047287187.1:p.Lys478Asn, NP_001373865.1:p.Lys478Asn

            6.

            rs1488290875 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              14:71709544 (GRCh38)
              14:72176261 (GRCh37)
              Canonical SPDI:
              NC_000014.9:71709543:T:G
              Gene:
              SIPA1L1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              G=0.000012/3 (GnomAD_exomes)
              G=0.000014/2 (GnomAD)
              HGVS:
              NC_000014.9:g.71709544T>G, NC_000014.8:g.72176261T>G, XM_005267516.5:c.4151T>G, XM_005267516.4:c.4151T>G, XM_005267516.3:c.4151T>G, XM_005267516.2:c.4151T>G, XM_005267516.1:c.4151T>G, NM_015556.4:c.4151T>G, NM_015556.3:c.4151T>G, NM_015556.2:c.4151T>G, NM_015556.1:c.4151T>G, NM_001284247.3:c.4151T>G, NM_001284247.2:c.4151T>G, NM_001284247.1:c.4151T>G, NM_001284245.3:c.4088T>G, NM_001284245.2:c.4088T>G, NM_001284245.1:c.4088T>G, XM_011536638.3:c.2576T>G, XM_011536638.2:c.2576T>G, XM_011536638.1:c.2576T>G, XM_011536632.2:c.4151T>G, XM_011536632.1:c.4151T>G, XM_017021185.2:c.4151T>G, XM_017021185.1:c.4151T>G, NM_001284246.2:c.4088T>G, NM_001284246.1:c.4088T>G, XM_024449529.2:c.4151T>G, XM_024449529.1:c.4151T>G, NM_001354286.2:c.4088T>G, NM_001354286.1:c.4088T>G, NM_001354285.2:c.4151T>G, NM_001354285.1:c.4151T>G, NM_001354288.2:c.4088T>G, NM_001354288.1:c.4088T>G, NM_001354287.2:c.4088T>G, NM_001354287.1:c.4088T>G, NM_001354289.2:c.2606T>G, NM_001354289.1:c.2606T>G, XM_017021198.2:c.2669T>G, XM_017021198.1:c.2669T>G, XM_047431220.1:c.4151T>G, XM_047431214.1:c.4151T>G, XM_047431215.1:c.4151T>G, XM_047431213.1:c.4151T>G, XM_047431226.1:c.4151T>G, XM_047431212.1:c.4151T>G, XM_047431227.1:c.4151T>G, XM_047431211.1:c.4151T>G, XM_047431232.1:c.4151T>G, XM_047431228.1:c.4151T>G, XM_047431222.1:c.4151T>G, XM_047431233.1:c.4088T>G, XM_047431234.1:c.4088T>G, XM_047431225.1:c.4151T>G, XM_047431235.1:c.4004T>G, XM_047431236.1:c.3941T>G, XM_047431237.1:c.3941T>G, XM_047431216.1:c.4151T>G, XM_047431217.1:c.4151T>G, XM_047431229.1:c.4151T>G, XM_047431223.1:c.4151T>G, XM_047431218.1:c.4151T>G, XM_047431209.1:c.4151T>G, XM_047431224.1:c.4151T>G, XM_047431219.1:c.4151T>G, XM_047431240.1:c.2669T>G, XM_047431231.1:c.4151T>G, NM_001386936.1:c.4088T>G, XM_047431244.1:c.2669T>G, XM_047431248.1:c.2606T>G, XM_047431241.1:c.2669T>G, XM_047431250.1:c.2606T>G, XM_047431251.1:c.2606T>G, XM_047431239.1:c.2669T>G, XM_047431243.1:c.2669T>G, XM_047431245.1:c.2669T>G, XM_047431238.1:c.2669T>G, XM_047431253.1:c.2606T>G, XM_047431246.1:c.2669T>G, XM_047431242.1:c.2669T>G, XM_047431247.1:c.2606T>G, XM_047431249.1:c.2606T>G, XM_047431252.1:c.2606T>G, XP_005267573.1:p.Leu1384Arg, NP_056371.1:p.Leu1384Arg, NP_001271176.1:p.Leu1384Arg, NP_001271174.1:p.Leu1363Arg, XP_011534940.1:p.Leu859Arg, XP_011534934.1:p.Leu1384Arg, XP_016876674.1:p.Leu1384Arg, NP_001271175.1:p.Leu1363Arg, XP_024305297.1:p.Leu1384Arg, NP_001341215.1:p.Leu1363Arg, NP_001341214.1:p.Leu1384Arg, NP_001341217.1:p.Leu1363Arg, NP_001341216.1:p.Leu1363Arg, NP_001341218.1:p.Leu869Arg, XP_016876687.1:p.Leu890Arg, XP_047287176.1:p.Leu1384Arg, XP_047287170.1:p.Leu1384Arg, XP_047287171.1:p.Leu1384Arg, XP_047287169.1:p.Leu1384Arg, XP_047287182.1:p.Leu1384Arg, XP_047287168.1:p.Leu1384Arg, XP_047287183.1:p.Leu1384Arg, XP_047287167.1:p.Leu1384Arg, XP_047287188.1:p.Leu1384Arg, XP_047287184.1:p.Leu1384Arg, XP_047287178.1:p.Leu1384Arg, XP_047287189.1:p.Leu1363Arg, XP_047287190.1:p.Leu1363Arg, XP_047287181.1:p.Leu1384Arg, XP_047287191.1:p.Leu1335Arg, XP_047287192.1:p.Leu1314Arg, XP_047287193.1:p.Leu1314Arg, XP_047287172.1:p.Leu1384Arg, XP_047287173.1:p.Leu1384Arg, XP_047287185.1:p.Leu1384Arg, XP_047287179.1:p.Leu1384Arg, XP_047287174.1:p.Leu1384Arg, XP_047287165.1:p.Leu1384Arg, XP_047287180.1:p.Leu1384Arg, XP_047287175.1:p.Leu1384Arg, XP_047287196.1:p.Leu890Arg, XP_047287187.1:p.Leu1384Arg, NP_001373865.1:p.Leu1363Arg, XP_047287200.1:p.Leu890Arg, XP_047287204.1:p.Leu869Arg, XP_047287197.1:p.Leu890Arg, XP_047287206.1:p.Leu869Arg, XP_047287207.1:p.Leu869Arg, XP_047287195.1:p.Leu890Arg, XP_047287199.1:p.Leu890Arg, XP_047287201.1:p.Leu890Arg, XP_047287194.1:p.Leu890Arg, XP_047287209.1:p.Leu869Arg, XP_047287202.1:p.Leu890Arg, XP_047287198.1:p.Leu890Arg, XP_047287203.1:p.Leu869Arg, XP_047287205.1:p.Leu869Arg, XP_047287208.1:p.Leu869Arg

              7.

              rs1488178062 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:71702449 (GRCh38)
                14:72169166 (GRCh37)
                Canonical SPDI:
                NC_000014.9:71702448:G:A
                Gene:
                SIPA1L1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.71702449G>A, NC_000014.8:g.72169166G>A, XM_005267516.5:c.3590G>A, XM_005267516.4:c.3590G>A, XM_005267516.3:c.3590G>A, XM_005267516.2:c.3590G>A, XM_005267516.1:c.3590G>A, NM_015556.4:c.3590G>A, NM_015556.3:c.3590G>A, NM_015556.2:c.3590G>A, NM_015556.1:c.3590G>A, NM_001284247.3:c.3590G>A, NM_001284247.2:c.3590G>A, NM_001284247.1:c.3590G>A, NM_001284245.3:c.3590G>A, NM_001284245.2:c.3590G>A, NM_001284245.1:c.3590G>A, XM_011536638.3:c.2015G>A, XM_011536638.2:c.2015G>A, XM_011536638.1:c.2015G>A, XM_011536632.2:c.3590G>A, XM_011536632.1:c.3590G>A, XM_017021185.2:c.3590G>A, XM_017021185.1:c.3590G>A, NM_001284246.2:c.3590G>A, NM_001284246.1:c.3590G>A, XM_024449529.2:c.3590G>A, XM_024449529.1:c.3590G>A, NM_001354286.2:c.3590G>A, NM_001354286.1:c.3590G>A, NM_001354285.2:c.3590G>A, NM_001354285.1:c.3590G>A, NM_001354288.2:c.3590G>A, NM_001354288.1:c.3590G>A, NM_001354287.2:c.3590G>A, NM_001354287.1:c.3590G>A, NM_001354289.2:c.2108G>A, NM_001354289.1:c.2108G>A, XM_017021198.2:c.2108G>A, XM_017021198.1:c.2108G>A, XM_047431220.1:c.3590G>A, XM_047431214.1:c.3590G>A, XM_047431215.1:c.3590G>A, XM_047431213.1:c.3590G>A, XM_047431226.1:c.3590G>A, XM_047431212.1:c.3590G>A, XM_047431227.1:c.3590G>A, XM_047431211.1:c.3590G>A, XM_047431232.1:c.3590G>A, XM_047431228.1:c.3590G>A, XM_047431222.1:c.3590G>A, XM_047431233.1:c.3590G>A, XM_047431234.1:c.3590G>A, XM_047431225.1:c.3590G>A, XM_047431235.1:c.3443G>A, XM_047431236.1:c.3443G>A, XM_047431237.1:c.3443G>A, XM_047431216.1:c.3590G>A, XM_047431217.1:c.3590G>A, XM_047431229.1:c.3590G>A, XM_047431223.1:c.3590G>A, XM_047431218.1:c.3590G>A, XM_047431209.1:c.3590G>A, XM_047431224.1:c.3590G>A, XM_047431219.1:c.3590G>A, XM_047431240.1:c.2108G>A, XM_047431231.1:c.3590G>A, NM_001386936.1:c.3590G>A, XM_047431244.1:c.2108G>A, XM_047431248.1:c.2108G>A, XM_047431241.1:c.2108G>A, XM_047431250.1:c.2108G>A, XM_047431251.1:c.2108G>A, XM_047431239.1:c.2108G>A, XM_047431243.1:c.2108G>A, XM_047431245.1:c.2108G>A, XM_047431238.1:c.2108G>A, XM_047431253.1:c.2108G>A, XM_047431246.1:c.2108G>A, XM_047431242.1:c.2108G>A, XM_047431247.1:c.2108G>A, XM_047431249.1:c.2108G>A, XM_047431252.1:c.2108G>A, XP_005267573.1:p.Ser1197Asn, NP_056371.1:p.Ser1197Asn, NP_001271176.1:p.Ser1197Asn, NP_001271174.1:p.Ser1197Asn, XP_011534940.1:p.Ser672Asn, XP_011534934.1:p.Ser1197Asn, XP_016876674.1:p.Ser1197Asn, NP_001271175.1:p.Ser1197Asn, XP_024305297.1:p.Ser1197Asn, NP_001341215.1:p.Ser1197Asn, NP_001341214.1:p.Ser1197Asn, NP_001341217.1:p.Ser1197Asn, NP_001341216.1:p.Ser1197Asn, NP_001341218.1:p.Ser703Asn, XP_016876687.1:p.Ser703Asn, XP_047287176.1:p.Ser1197Asn, XP_047287170.1:p.Ser1197Asn, XP_047287171.1:p.Ser1197Asn, XP_047287169.1:p.Ser1197Asn, XP_047287182.1:p.Ser1197Asn, XP_047287168.1:p.Ser1197Asn, XP_047287183.1:p.Ser1197Asn, XP_047287167.1:p.Ser1197Asn, XP_047287188.1:p.Ser1197Asn, XP_047287184.1:p.Ser1197Asn, XP_047287178.1:p.Ser1197Asn, XP_047287189.1:p.Ser1197Asn, XP_047287190.1:p.Ser1197Asn, XP_047287181.1:p.Ser1197Asn, XP_047287191.1:p.Ser1148Asn, XP_047287192.1:p.Ser1148Asn, XP_047287193.1:p.Ser1148Asn, XP_047287172.1:p.Ser1197Asn, XP_047287173.1:p.Ser1197Asn, XP_047287185.1:p.Ser1197Asn, XP_047287179.1:p.Ser1197Asn, XP_047287174.1:p.Ser1197Asn, XP_047287165.1:p.Ser1197Asn, XP_047287180.1:p.Ser1197Asn, XP_047287175.1:p.Ser1197Asn, XP_047287196.1:p.Ser703Asn, XP_047287187.1:p.Ser1197Asn, NP_001373865.1:p.Ser1197Asn, XP_047287200.1:p.Ser703Asn, XP_047287204.1:p.Ser703Asn, XP_047287197.1:p.Ser703Asn, XP_047287206.1:p.Ser703Asn, XP_047287207.1:p.Ser703Asn, XP_047287195.1:p.Ser703Asn, XP_047287199.1:p.Ser703Asn, XP_047287201.1:p.Ser703Asn, XP_047287194.1:p.Ser703Asn, XP_047287209.1:p.Ser703Asn, XP_047287202.1:p.Ser703Asn, XP_047287198.1:p.Ser703Asn, XP_047287203.1:p.Ser703Asn, XP_047287205.1:p.Ser703Asn, XP_047287208.1:p.Ser703Asn

                8.

                rs1487966087 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  14:71589182 (GRCh38)
                  14:72055899 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:71589181:G:C,NC_000014.9:71589181:G:T
                  Gene:
                  SIPA1L1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000014.9:g.71589182G>C, NC_000014.9:g.71589182G>T, NC_000014.8:g.72055899G>C, NC_000014.8:g.72055899G>T, XM_005267516.5:c.1310G>C, XM_005267516.5:c.1310G>T, XM_005267516.4:c.1310G>C, XM_005267516.4:c.1310G>T, XM_005267516.3:c.1310G>C, XM_005267516.3:c.1310G>T, XM_005267516.2:c.1310G>C, XM_005267516.2:c.1310G>T, XM_005267516.1:c.1310G>C, XM_005267516.1:c.1310G>T, NM_015556.4:c.1310G>C, NM_015556.4:c.1310G>T, NM_015556.3:c.1310G>C, NM_015556.3:c.1310G>T, NM_015556.2:c.1310G>C, NM_015556.2:c.1310G>T, NM_015556.1:c.1310G>C, NM_015556.1:c.1310G>T, NM_001284247.3:c.1310G>C, NM_001284247.3:c.1310G>T, NM_001284247.2:c.1310G>C, NM_001284247.2:c.1310G>T, NM_001284247.1:c.1310G>C, NM_001284247.1:c.1310G>T, NM_001284245.3:c.1310G>C, NM_001284245.3:c.1310G>T, NM_001284245.2:c.1310G>C, NM_001284245.2:c.1310G>T, NM_001284245.1:c.1310G>C, NM_001284245.1:c.1310G>T, XM_011536632.2:c.1310G>C, XM_011536632.2:c.1310G>T, XM_011536632.1:c.1310G>C, XM_011536632.1:c.1310G>T, XM_017021185.2:c.1310G>C, XM_017021185.2:c.1310G>T, XM_017021185.1:c.1310G>C, XM_017021185.1:c.1310G>T, NM_001284246.2:c.1310G>C, NM_001284246.2:c.1310G>T, NM_001284246.1:c.1310G>C, NM_001284246.1:c.1310G>T, XM_024449529.2:c.1310G>C, XM_024449529.2:c.1310G>T, XM_024449529.1:c.1310G>C, XM_024449529.1:c.1310G>T, NM_001354286.2:c.1310G>C, NM_001354286.2:c.1310G>T, NM_001354286.1:c.1310G>C, NM_001354286.1:c.1310G>T, NM_001354285.2:c.1310G>C, NM_001354285.2:c.1310G>T, NM_001354285.1:c.1310G>C, NM_001354285.1:c.1310G>T, NM_001354288.2:c.1310G>C, NM_001354288.2:c.1310G>T, NM_001354288.1:c.1310G>C, NM_001354288.1:c.1310G>T, NM_001354287.2:c.1310G>C, NM_001354287.2:c.1310G>T, NM_001354287.1:c.1310G>C, NM_001354287.1:c.1310G>T, XM_047431220.1:c.1310G>C, XM_047431220.1:c.1310G>T, XM_047431214.1:c.1310G>C, XM_047431214.1:c.1310G>T, XM_047431215.1:c.1310G>C, XM_047431215.1:c.1310G>T, XM_047431213.1:c.1310G>C, XM_047431213.1:c.1310G>T, XM_047431226.1:c.1310G>C, XM_047431226.1:c.1310G>T, XM_047431212.1:c.1310G>C, XM_047431212.1:c.1310G>T, XM_047431227.1:c.1310G>C, XM_047431227.1:c.1310G>T, XM_047431211.1:c.1310G>C, XM_047431211.1:c.1310G>T, XM_047431232.1:c.1310G>C, XM_047431232.1:c.1310G>T, XM_047431228.1:c.1310G>C, XM_047431228.1:c.1310G>T, XM_047431222.1:c.1310G>C, XM_047431222.1:c.1310G>T, XM_047431233.1:c.1310G>C, XM_047431233.1:c.1310G>T, XM_047431234.1:c.1310G>C, XM_047431234.1:c.1310G>T, XM_047431225.1:c.1310G>C, XM_047431225.1:c.1310G>T, XM_047431235.1:c.1310G>C, XM_047431235.1:c.1310G>T, XM_047431236.1:c.1310G>C, XM_047431236.1:c.1310G>T, XM_047431237.1:c.1310G>C, XM_047431237.1:c.1310G>T, XM_047431216.1:c.1310G>C, XM_047431216.1:c.1310G>T, XM_047431217.1:c.1310G>C, XM_047431217.1:c.1310G>T, XM_047431229.1:c.1310G>C, XM_047431229.1:c.1310G>T, XM_047431223.1:c.1310G>C, XM_047431223.1:c.1310G>T, XM_047431218.1:c.1310G>C, XM_047431218.1:c.1310G>T, XM_047431209.1:c.1310G>C, XM_047431209.1:c.1310G>T, XM_047431224.1:c.1310G>C, XM_047431224.1:c.1310G>T, XM_047431219.1:c.1310G>C, XM_047431219.1:c.1310G>T, XM_047431231.1:c.1310G>C, XM_047431231.1:c.1310G>T, NM_001386936.1:c.1310G>C, NM_001386936.1:c.1310G>T, XP_005267573.1:p.Gly437Ala, XP_005267573.1:p.Gly437Val, NP_056371.1:p.Gly437Ala, NP_056371.1:p.Gly437Val, NP_001271176.1:p.Gly437Ala, NP_001271176.1:p.Gly437Val, NP_001271174.1:p.Gly437Ala, NP_001271174.1:p.Gly437Val, XP_011534934.1:p.Gly437Ala, XP_011534934.1:p.Gly437Val, XP_016876674.1:p.Gly437Ala, XP_016876674.1:p.Gly437Val, NP_001271175.1:p.Gly437Ala, NP_001271175.1:p.Gly437Val, XP_024305297.1:p.Gly437Ala, XP_024305297.1:p.Gly437Val, NP_001341215.1:p.Gly437Ala, NP_001341215.1:p.Gly437Val, NP_001341214.1:p.Gly437Ala, NP_001341214.1:p.Gly437Val, NP_001341217.1:p.Gly437Ala, NP_001341217.1:p.Gly437Val, NP_001341216.1:p.Gly437Ala, NP_001341216.1:p.Gly437Val, XP_047287176.1:p.Gly437Ala, XP_047287176.1:p.Gly437Val, XP_047287170.1:p.Gly437Ala, XP_047287170.1:p.Gly437Val, XP_047287171.1:p.Gly437Ala, XP_047287171.1:p.Gly437Val, XP_047287169.1:p.Gly437Ala, XP_047287169.1:p.Gly437Val, XP_047287182.1:p.Gly437Ala, XP_047287182.1:p.Gly437Val, XP_047287168.1:p.Gly437Ala, XP_047287168.1:p.Gly437Val, XP_047287183.1:p.Gly437Ala, XP_047287183.1:p.Gly437Val, XP_047287167.1:p.Gly437Ala, XP_047287167.1:p.Gly437Val, XP_047287188.1:p.Gly437Ala, XP_047287188.1:p.Gly437Val, XP_047287184.1:p.Gly437Ala, XP_047287184.1:p.Gly437Val, XP_047287178.1:p.Gly437Ala, XP_047287178.1:p.Gly437Val, XP_047287189.1:p.Gly437Ala, XP_047287189.1:p.Gly437Val, XP_047287190.1:p.Gly437Ala, XP_047287190.1:p.Gly437Val, XP_047287181.1:p.Gly437Ala, XP_047287181.1:p.Gly437Val, XP_047287191.1:p.Gly437Ala, XP_047287191.1:p.Gly437Val, XP_047287192.1:p.Gly437Ala, XP_047287192.1:p.Gly437Val, XP_047287193.1:p.Gly437Ala, XP_047287193.1:p.Gly437Val, XP_047287172.1:p.Gly437Ala, XP_047287172.1:p.Gly437Val, XP_047287173.1:p.Gly437Ala, XP_047287173.1:p.Gly437Val, XP_047287185.1:p.Gly437Ala, XP_047287185.1:p.Gly437Val, XP_047287179.1:p.Gly437Ala, XP_047287179.1:p.Gly437Val, XP_047287174.1:p.Gly437Ala, XP_047287174.1:p.Gly437Val, XP_047287165.1:p.Gly437Ala, XP_047287165.1:p.Gly437Val, XP_047287180.1:p.Gly437Ala, XP_047287180.1:p.Gly437Val, XP_047287175.1:p.Gly437Ala, XP_047287175.1:p.Gly437Val, XP_047287187.1:p.Gly437Ala, XP_047287187.1:p.Gly437Val, NP_001373865.1:p.Gly437Ala, NP_001373865.1:p.Gly437Val

                  9.

                  rs1486406672 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    14:71650422 (GRCh38)
                    14:72117139 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:71650421:C:G
                    Gene:
                    SIPA1L1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.71650422C>G, NC_000014.8:g.72117139C>G, XM_005267516.5:c.1906C>G, XM_005267516.4:c.1906C>G, XM_005267516.3:c.1906C>G, XM_005267516.2:c.1906C>G, XM_005267516.1:c.1906C>G, NM_015556.4:c.1906C>G, NM_015556.3:c.1906C>G, NM_015556.2:c.1906C>G, NM_015556.1:c.1906C>G, NM_001284247.3:c.1906C>G, NM_001284247.2:c.1906C>G, NM_001284247.1:c.1906C>G, NM_001284245.3:c.1906C>G, NM_001284245.2:c.1906C>G, NM_001284245.1:c.1906C>G, XM_011536638.3:c.331C>G, XM_011536638.2:c.331C>G, XM_011536638.1:c.331C>G, XM_011536632.2:c.1906C>G, XM_011536632.1:c.1906C>G, XM_017021185.2:c.1906C>G, XM_017021185.1:c.1906C>G, NM_001284246.2:c.1906C>G, NM_001284246.1:c.1906C>G, XM_024449529.2:c.1906C>G, XM_024449529.1:c.1906C>G, NM_001354286.2:c.1906C>G, NM_001354286.1:c.1906C>G, NM_001354285.2:c.1906C>G, NM_001354285.1:c.1906C>G, NM_001354288.2:c.1906C>G, NM_001354288.1:c.1906C>G, NM_001354287.2:c.1906C>G, NM_001354287.1:c.1906C>G, NM_001354289.2:c.424C>G, NM_001354289.1:c.424C>G, XM_017021198.2:c.424C>G, XM_017021198.1:c.424C>G, XM_047431220.1:c.1906C>G, XM_047431214.1:c.1906C>G, XM_047431215.1:c.1906C>G, XM_047431213.1:c.1906C>G, XM_047431226.1:c.1906C>G, XM_047431212.1:c.1906C>G, XM_047431227.1:c.1906C>G, XM_047431211.1:c.1906C>G, XM_047431232.1:c.1906C>G, XM_047431228.1:c.1906C>G, XM_047431222.1:c.1906C>G, XM_047431233.1:c.1906C>G, XM_047431234.1:c.1906C>G, XM_047431225.1:c.1906C>G, XM_047431235.1:c.1906C>G, XM_047431236.1:c.1906C>G, XM_047431237.1:c.1906C>G, XM_047431216.1:c.1906C>G, XM_047431217.1:c.1906C>G, XM_047431229.1:c.1906C>G, XM_047431223.1:c.1906C>G, XM_047431218.1:c.1906C>G, XM_047431209.1:c.1906C>G, XM_047431224.1:c.1906C>G, XM_047431219.1:c.1906C>G, XM_047431240.1:c.424C>G, XM_047431231.1:c.1906C>G, NM_001386936.1:c.1906C>G, XM_047431244.1:c.424C>G, XM_047431248.1:c.424C>G, XM_047431241.1:c.424C>G, XM_047431250.1:c.424C>G, XM_047431251.1:c.424C>G, XM_047431239.1:c.424C>G, XM_047431243.1:c.424C>G, XM_047431245.1:c.424C>G, XM_047431238.1:c.424C>G, XM_047431253.1:c.424C>G, XM_047431246.1:c.424C>G, XM_047431242.1:c.424C>G, XM_047431247.1:c.424C>G, XM_047431249.1:c.424C>G, XM_047431252.1:c.424C>G, XP_005267573.1:p.Pro636Ala, NP_056371.1:p.Pro636Ala, NP_001271176.1:p.Pro636Ala, NP_001271174.1:p.Pro636Ala, XP_011534940.1:p.Pro111Ala, XP_011534934.1:p.Pro636Ala, XP_016876674.1:p.Pro636Ala, NP_001271175.1:p.Pro636Ala, XP_024305297.1:p.Pro636Ala, NP_001341215.1:p.Pro636Ala, NP_001341214.1:p.Pro636Ala, NP_001341217.1:p.Pro636Ala, NP_001341216.1:p.Pro636Ala, NP_001341218.1:p.Pro142Ala, XP_016876687.1:p.Pro142Ala, XP_047287176.1:p.Pro636Ala, XP_047287170.1:p.Pro636Ala, XP_047287171.1:p.Pro636Ala, XP_047287169.1:p.Pro636Ala, XP_047287182.1:p.Pro636Ala, XP_047287168.1:p.Pro636Ala, XP_047287183.1:p.Pro636Ala, XP_047287167.1:p.Pro636Ala, XP_047287188.1:p.Pro636Ala, XP_047287184.1:p.Pro636Ala, XP_047287178.1:p.Pro636Ala, XP_047287189.1:p.Pro636Ala, XP_047287190.1:p.Pro636Ala, XP_047287181.1:p.Pro636Ala, XP_047287191.1:p.Pro636Ala, XP_047287192.1:p.Pro636Ala, XP_047287193.1:p.Pro636Ala, XP_047287172.1:p.Pro636Ala, XP_047287173.1:p.Pro636Ala, XP_047287185.1:p.Pro636Ala, XP_047287179.1:p.Pro636Ala, XP_047287174.1:p.Pro636Ala, XP_047287165.1:p.Pro636Ala, XP_047287180.1:p.Pro636Ala, XP_047287175.1:p.Pro636Ala, XP_047287196.1:p.Pro142Ala, XP_047287187.1:p.Pro636Ala, NP_001373865.1:p.Pro636Ala, XP_047287200.1:p.Pro142Ala, XP_047287204.1:p.Pro142Ala, XP_047287197.1:p.Pro142Ala, XP_047287206.1:p.Pro142Ala, XP_047287207.1:p.Pro142Ala, XP_047287195.1:p.Pro142Ala, XP_047287199.1:p.Pro142Ala, XP_047287201.1:p.Pro142Ala, XP_047287194.1:p.Pro142Ala, XP_047287209.1:p.Pro142Ala, XP_047287202.1:p.Pro142Ala, XP_047287198.1:p.Pro142Ala, XP_047287203.1:p.Pro142Ala, XP_047287205.1:p.Pro142Ala, XP_047287208.1:p.Pro142Ala

                    10.

                    rs1485937172 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      14:71709415 (GRCh38)
                      14:72176132 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:71709414:C:G
                      Gene:
                      SIPA1L1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000014.9:g.71709415C>G, NC_000014.8:g.72176132C>G, XM_005267516.5:c.4022C>G, XM_005267516.4:c.4022C>G, XM_005267516.3:c.4022C>G, XM_005267516.2:c.4022C>G, XM_005267516.1:c.4022C>G, NM_015556.4:c.4022C>G, NM_015556.3:c.4022C>G, NM_015556.2:c.4022C>G, NM_015556.1:c.4022C>G, NM_001284247.3:c.4022C>G, NM_001284247.2:c.4022C>G, NM_001284247.1:c.4022C>G, NM_001284245.3:c.3959C>G, NM_001284245.2:c.3959C>G, NM_001284245.1:c.3959C>G, XM_011536638.3:c.2447C>G, XM_011536638.2:c.2447C>G, XM_011536638.1:c.2447C>G, XM_011536632.2:c.4022C>G, XM_011536632.1:c.4022C>G, XM_017021185.2:c.4022C>G, XM_017021185.1:c.4022C>G, NM_001284246.2:c.3959C>G, NM_001284246.1:c.3959C>G, XM_024449529.2:c.4022C>G, XM_024449529.1:c.4022C>G, NM_001354286.2:c.3959C>G, NM_001354286.1:c.3959C>G, NM_001354285.2:c.4022C>G, NM_001354285.1:c.4022C>G, NM_001354288.2:c.3959C>G, NM_001354288.1:c.3959C>G, NM_001354287.2:c.3959C>G, NM_001354287.1:c.3959C>G, NM_001354289.2:c.2477C>G, NM_001354289.1:c.2477C>G, XM_017021198.2:c.2540C>G, XM_017021198.1:c.2540C>G, XM_047431220.1:c.4022C>G, XM_047431214.1:c.4022C>G, XM_047431215.1:c.4022C>G, XM_047431213.1:c.4022C>G, XM_047431226.1:c.4022C>G, XM_047431212.1:c.4022C>G, XM_047431227.1:c.4022C>G, XM_047431211.1:c.4022C>G, XM_047431232.1:c.4022C>G, XM_047431228.1:c.4022C>G, XM_047431222.1:c.4022C>G, XM_047431233.1:c.3959C>G, XM_047431234.1:c.3959C>G, XM_047431225.1:c.4022C>G, XM_047431235.1:c.3875C>G, XM_047431236.1:c.3812C>G, XM_047431237.1:c.3812C>G, XM_047431216.1:c.4022C>G, XM_047431217.1:c.4022C>G, XM_047431229.1:c.4022C>G, XM_047431223.1:c.4022C>G, XM_047431218.1:c.4022C>G, XM_047431209.1:c.4022C>G, XM_047431224.1:c.4022C>G, XM_047431219.1:c.4022C>G, XM_047431240.1:c.2540C>G, XM_047431231.1:c.4022C>G, NM_001386936.1:c.3959C>G, XM_047431244.1:c.2540C>G, XM_047431248.1:c.2477C>G, XM_047431241.1:c.2540C>G, XM_047431250.1:c.2477C>G, XM_047431251.1:c.2477C>G, XM_047431239.1:c.2540C>G, XM_047431243.1:c.2540C>G, XM_047431245.1:c.2540C>G, XM_047431238.1:c.2540C>G, XM_047431253.1:c.2477C>G, XM_047431246.1:c.2540C>G, XM_047431242.1:c.2540C>G, XM_047431247.1:c.2477C>G, XM_047431249.1:c.2477C>G, XM_047431252.1:c.2477C>G, XP_005267573.1:p.Ala1341Gly, NP_056371.1:p.Ala1341Gly, NP_001271176.1:p.Ala1341Gly, NP_001271174.1:p.Ala1320Gly, XP_011534940.1:p.Ala816Gly, XP_011534934.1:p.Ala1341Gly, XP_016876674.1:p.Ala1341Gly, NP_001271175.1:p.Ala1320Gly, XP_024305297.1:p.Ala1341Gly, NP_001341215.1:p.Ala1320Gly, NP_001341214.1:p.Ala1341Gly, NP_001341217.1:p.Ala1320Gly, NP_001341216.1:p.Ala1320Gly, NP_001341218.1:p.Ala826Gly, XP_016876687.1:p.Ala847Gly, XP_047287176.1:p.Ala1341Gly, XP_047287170.1:p.Ala1341Gly, XP_047287171.1:p.Ala1341Gly, XP_047287169.1:p.Ala1341Gly, XP_047287182.1:p.Ala1341Gly, XP_047287168.1:p.Ala1341Gly, XP_047287183.1:p.Ala1341Gly, XP_047287167.1:p.Ala1341Gly, XP_047287188.1:p.Ala1341Gly, XP_047287184.1:p.Ala1341Gly, XP_047287178.1:p.Ala1341Gly, XP_047287189.1:p.Ala1320Gly, XP_047287190.1:p.Ala1320Gly, XP_047287181.1:p.Ala1341Gly, XP_047287191.1:p.Ala1292Gly, XP_047287192.1:p.Ala1271Gly, XP_047287193.1:p.Ala1271Gly, XP_047287172.1:p.Ala1341Gly, XP_047287173.1:p.Ala1341Gly, XP_047287185.1:p.Ala1341Gly, XP_047287179.1:p.Ala1341Gly, XP_047287174.1:p.Ala1341Gly, XP_047287165.1:p.Ala1341Gly, XP_047287180.1:p.Ala1341Gly, XP_047287175.1:p.Ala1341Gly, XP_047287196.1:p.Ala847Gly, XP_047287187.1:p.Ala1341Gly, NP_001373865.1:p.Ala1320Gly, XP_047287200.1:p.Ala847Gly, XP_047287204.1:p.Ala826Gly, XP_047287197.1:p.Ala847Gly, XP_047287206.1:p.Ala826Gly, XP_047287207.1:p.Ala826Gly, XP_047287195.1:p.Ala847Gly, XP_047287199.1:p.Ala847Gly, XP_047287201.1:p.Ala847Gly, XP_047287194.1:p.Ala847Gly, XP_047287209.1:p.Ala826Gly, XP_047287202.1:p.Ala847Gly, XP_047287198.1:p.Ala847Gly, XP_047287203.1:p.Ala826Gly, XP_047287205.1:p.Ala826Gly, XP_047287208.1:p.Ala826Gly

                      11.

                      rs1484086895 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:71588091 (GRCh38)
                        14:72054808 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:71588090:A:G
                        Gene:
                        SIPA1L1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.71588091A>G, NC_000014.8:g.72054808A>G, XM_005267516.5:c.219A>G, XM_005267516.4:c.219A>G, XM_005267516.3:c.219A>G, XM_005267516.2:c.219A>G, XM_005267516.1:c.219A>G, NM_015556.4:c.219A>G, NM_015556.3:c.219A>G, NM_015556.2:c.219A>G, NM_015556.1:c.219A>G, NM_001284247.3:c.219A>G, NM_001284247.2:c.219A>G, NM_001284247.1:c.219A>G, NM_001284245.3:c.219A>G, NM_001284245.2:c.219A>G, NM_001284245.1:c.219A>G, XM_011536632.2:c.219A>G, XM_011536632.1:c.219A>G, XM_017021185.2:c.219A>G, XM_017021185.1:c.219A>G, NM_001284246.2:c.219A>G, NM_001284246.1:c.219A>G, XM_024449529.2:c.219A>G, XM_024449529.1:c.219A>G, NM_001354286.2:c.219A>G, NM_001354286.1:c.219A>G, NM_001354285.2:c.219A>G, NM_001354285.1:c.219A>G, NM_001354288.2:c.219A>G, NM_001354288.1:c.219A>G, NM_001354287.2:c.219A>G, NM_001354287.1:c.219A>G, XM_047431220.1:c.219A>G, XM_047431214.1:c.219A>G, XM_047431215.1:c.219A>G, XM_047431213.1:c.219A>G, XM_047431226.1:c.219A>G, XM_047431212.1:c.219A>G, XM_047431227.1:c.219A>G, XM_047431211.1:c.219A>G, XM_047431232.1:c.219A>G, XM_047431228.1:c.219A>G, XM_047431222.1:c.219A>G, XM_047431233.1:c.219A>G, XM_047431234.1:c.219A>G, XM_047431225.1:c.219A>G, XM_047431235.1:c.219A>G, XM_047431236.1:c.219A>G, XM_047431237.1:c.219A>G, XM_047431216.1:c.219A>G, XM_047431217.1:c.219A>G, XM_047431229.1:c.219A>G, XM_047431223.1:c.219A>G, XM_047431218.1:c.219A>G, XM_047431209.1:c.219A>G, XM_047431224.1:c.219A>G, XM_047431219.1:c.219A>G, XM_047431231.1:c.219A>G, NM_001386936.1:c.219A>G

                        12.

                        rs1483791692 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          14:71739034 (GRCh38)
                          14:72205751 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:71739033:C:G
                          Gene:
                          SIPA1L1 (Varview), LOC124903342 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.71739034C>G, NC_000014.8:g.72205751C>G, XM_005267516.5:c.5288C>G, XM_005267516.4:c.5288C>G, XM_005267516.3:c.5288C>G, XM_005267516.2:c.5288C>G, XM_005267516.1:c.5288C>G, NM_015556.4:c.5288C>G, NM_015556.3:c.5288C>G, NM_015556.2:c.5288C>G, NM_015556.1:c.5288C>G, NM_001284247.3:c.5285C>G, NM_001284247.2:c.5285C>G, NM_001284247.1:c.5285C>G, NM_001284245.3:c.5225C>G, NM_001284245.2:c.5225C>G, NM_001284245.1:c.5225C>G, XM_011536638.3:c.3713C>G, XM_011536638.2:c.3713C>G, XM_011536638.1:c.3713C>G, XM_011536632.2:c.5288C>G, XM_011536632.1:c.5288C>G, XM_017021185.2:c.5285C>G, XM_017021185.1:c.5285C>G, NM_001284246.2:c.5222C>G, NM_001284246.1:c.5222C>G, XM_024449529.2:c.5288C>G, XM_024449529.1:c.5288C>G, NM_001354286.2:c.5222C>G, NM_001354286.1:c.5222C>G, NM_001354285.2:c.5288C>G, NM_001354285.1:c.5288C>G, NM_001354288.2:c.5222C>G, NM_001354288.1:c.5222C>G, NM_001354287.2:c.5222C>G, NM_001354287.1:c.5222C>G, NM_001354289.2:c.3740C>G, NM_001354289.1:c.3740C>G, XM_017021198.2:c.3806C>G, XM_017021198.1:c.3806C>G, XM_047431220.1:c.5288C>G, XM_047431214.1:c.5288C>G, XM_047431215.1:c.5288C>G, XM_047431213.1:c.5288C>G, XM_047431226.1:c.5288C>G, XM_047431212.1:c.5288C>G, XM_047431227.1:c.5288C>G, XM_047431211.1:c.5288C>G, XM_047431232.1:c.5285C>G, XM_047431228.1:c.5288C>G, XM_047431222.1:c.5288C>G, XM_047431233.1:c.5225C>G, XM_047431234.1:c.5222C>G, XM_047431225.1:c.5288C>G, XM_047431235.1:c.5141C>G, XM_047431236.1:c.5078C>G, XM_047431237.1:c.5075C>G, XM_047431216.1:c.5288C>G, XM_047431217.1:c.5288C>G, XM_047431229.1:c.5288C>G, XM_047431223.1:c.5288C>G, XM_047431218.1:c.5288C>G, XM_047431209.1:c.5288C>G, XM_047431224.1:c.5288C>G, XM_047431219.1:c.5288C>G, XM_047431240.1:c.3806C>G, XM_047431231.1:c.5288C>G, NM_001386936.1:c.5225C>G, XM_047431244.1:c.3806C>G, XM_047431248.1:c.3743C>G, XM_047431241.1:c.3806C>G, XM_047431250.1:c.3743C>G, XM_047431251.1:c.3743C>G, XM_047431239.1:c.3806C>G, XM_047431243.1:c.3806C>G, XM_047431245.1:c.3806C>G, XM_047431238.1:c.3806C>G, XM_047431253.1:c.3740C>G, XM_047431246.1:c.3806C>G, XM_047431242.1:c.3806C>G, XM_047431247.1:c.3743C>G, XM_047431249.1:c.3743C>G, XM_047431252.1:c.3740C>G, XP_005267573.1:p.Ala1763Gly, NP_056371.1:p.Ala1763Gly, NP_001271176.1:p.Ala1762Gly, NP_001271174.1:p.Ala1742Gly, XP_011534940.1:p.Ala1238Gly, XP_011534934.1:p.Ala1763Gly, XP_016876674.1:p.Ala1762Gly, NP_001271175.1:p.Ala1741Gly, XP_024305297.1:p.Ala1763Gly, NP_001341215.1:p.Ala1741Gly, NP_001341214.1:p.Ala1763Gly, NP_001341217.1:p.Ala1741Gly, NP_001341216.1:p.Ala1741Gly, NP_001341218.1:p.Ala1247Gly, XP_016876687.1:p.Ala1269Gly, XP_047287176.1:p.Ala1763Gly, XP_047287170.1:p.Ala1763Gly, XP_047287171.1:p.Ala1763Gly, XP_047287169.1:p.Ala1763Gly, XP_047287182.1:p.Ala1763Gly, XP_047287168.1:p.Ala1763Gly, XP_047287183.1:p.Ala1763Gly, XP_047287167.1:p.Ala1763Gly, XP_047287188.1:p.Ala1762Gly, XP_047287184.1:p.Ala1763Gly, XP_047287178.1:p.Ala1763Gly, XP_047287189.1:p.Ala1742Gly, XP_047287190.1:p.Ala1741Gly, XP_047287181.1:p.Ala1763Gly, XP_047287191.1:p.Ala1714Gly, XP_047287192.1:p.Ala1693Gly, XP_047287193.1:p.Ala1692Gly, XP_047287172.1:p.Ala1763Gly, XP_047287173.1:p.Ala1763Gly, XP_047287185.1:p.Ala1763Gly, XP_047287179.1:p.Ala1763Gly, XP_047287174.1:p.Ala1763Gly, XP_047287165.1:p.Ala1763Gly, XP_047287180.1:p.Ala1763Gly, XP_047287175.1:p.Ala1763Gly, XP_047287196.1:p.Ala1269Gly, XP_047287187.1:p.Ala1763Gly, NP_001373865.1:p.Ala1742Gly, XP_047287200.1:p.Ala1269Gly, XP_047287204.1:p.Ala1248Gly, XP_047287197.1:p.Ala1269Gly, XP_047287206.1:p.Ala1248Gly, XP_047287207.1:p.Ala1248Gly, XP_047287195.1:p.Ala1269Gly, XP_047287199.1:p.Ala1269Gly, XP_047287201.1:p.Ala1269Gly, XP_047287194.1:p.Ala1269Gly, XP_047287209.1:p.Ala1247Gly, XP_047287202.1:p.Ala1269Gly, XP_047287198.1:p.Ala1269Gly, XP_047287203.1:p.Ala1248Gly, XP_047287205.1:p.Ala1248Gly, XP_047287208.1:p.Ala1247Gly

                          13.

                          rs1482007067 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            14:71672455 (GRCh38)
                            14:72139172 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:71672454:C:G
                            Gene:
                            SIPA1L1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            G=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000014.9:g.71672455C>G, NC_000014.8:g.72139172C>G, XM_005267516.5:c.2937C>G, XM_005267516.4:c.2937C>G, XM_005267516.3:c.2937C>G, XM_005267516.2:c.2937C>G, XM_005267516.1:c.2937C>G, NM_015556.4:c.2937C>G, NM_015556.3:c.2937C>G, NM_015556.2:c.2937C>G, NM_015556.1:c.2937C>G, NM_001284247.3:c.2937C>G, NM_001284247.2:c.2937C>G, NM_001284247.1:c.2937C>G, NM_001284245.3:c.2937C>G, NM_001284245.2:c.2937C>G, NM_001284245.1:c.2937C>G, XM_011536638.3:c.1362C>G, XM_011536638.2:c.1362C>G, XM_011536638.1:c.1362C>G, XM_011536632.2:c.2937C>G, XM_011536632.1:c.2937C>G, XM_017021185.2:c.2937C>G, XM_017021185.1:c.2937C>G, NM_001284246.2:c.2937C>G, NM_001284246.1:c.2937C>G, XM_024449529.2:c.2937C>G, XM_024449529.1:c.2937C>G, NM_001354286.2:c.2937C>G, NM_001354286.1:c.2937C>G, NM_001354285.2:c.2937C>G, NM_001354285.1:c.2937C>G, NM_001354288.2:c.2937C>G, NM_001354288.1:c.2937C>G, NM_001354287.2:c.2937C>G, NM_001354287.1:c.2937C>G, NM_001354289.2:c.1455C>G, NM_001354289.1:c.1455C>G, XM_017021198.2:c.1455C>G, XM_017021198.1:c.1455C>G, XM_047431220.1:c.2937C>G, XM_047431214.1:c.2937C>G, XM_047431215.1:c.2937C>G, XM_047431213.1:c.2937C>G, XM_047431226.1:c.2937C>G, XM_047431212.1:c.2937C>G, XM_047431227.1:c.2937C>G, XM_047431211.1:c.2937C>G, XM_047431232.1:c.2937C>G, XM_047431228.1:c.2937C>G, XM_047431222.1:c.2937C>G, XM_047431233.1:c.2937C>G, XM_047431234.1:c.2937C>G, XM_047431225.1:c.2937C>G, XM_047431235.1:c.2937C>G, XM_047431236.1:c.2937C>G, XM_047431237.1:c.2937C>G, XM_047431216.1:c.2937C>G, XM_047431217.1:c.2937C>G, XM_047431229.1:c.2937C>G, XM_047431223.1:c.2937C>G, XM_047431218.1:c.2937C>G, XM_047431209.1:c.2937C>G, XM_047431224.1:c.2937C>G, XM_047431219.1:c.2937C>G, XM_047431240.1:c.1455C>G, XM_047431231.1:c.2937C>G, NM_001386936.1:c.2937C>G, XM_047431244.1:c.1455C>G, XM_047431248.1:c.1455C>G, XM_047431241.1:c.1455C>G, XM_047431250.1:c.1455C>G, XM_047431251.1:c.1455C>G, XM_047431239.1:c.1455C>G, XM_047431243.1:c.1455C>G, XM_047431245.1:c.1455C>G, XM_047431238.1:c.1455C>G, XM_047431253.1:c.1455C>G, XM_047431246.1:c.1455C>G, XM_047431242.1:c.1455C>G, XM_047431247.1:c.1455C>G, XM_047431249.1:c.1455C>G, XM_047431252.1:c.1455C>G

                            14.

                            rs1481909152 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              14:71589068 (GRCh38)
                              14:72055785 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:71589067:G:A
                              Gene:
                              SIPA1L1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000028/1 (ALFA)
                              A=0.000015/4 (TOPMED)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              NC_000014.9:g.71589068G>A, NC_000014.8:g.72055785G>A, XM_005267516.5:c.1196G>A, XM_005267516.4:c.1196G>A, XM_005267516.3:c.1196G>A, XM_005267516.2:c.1196G>A, XM_005267516.1:c.1196G>A, NM_015556.4:c.1196G>A, NM_015556.3:c.1196G>A, NM_015556.2:c.1196G>A, NM_015556.1:c.1196G>A, NM_001284247.3:c.1196G>A, NM_001284247.2:c.1196G>A, NM_001284247.1:c.1196G>A, NM_001284245.3:c.1196G>A, NM_001284245.2:c.1196G>A, NM_001284245.1:c.1196G>A, XM_011536632.2:c.1196G>A, XM_011536632.1:c.1196G>A, XM_017021185.2:c.1196G>A, XM_017021185.1:c.1196G>A, NM_001284246.2:c.1196G>A, NM_001284246.1:c.1196G>A, XM_024449529.2:c.1196G>A, XM_024449529.1:c.1196G>A, NM_001354286.2:c.1196G>A, NM_001354286.1:c.1196G>A, NM_001354285.2:c.1196G>A, NM_001354285.1:c.1196G>A, NM_001354288.2:c.1196G>A, NM_001354288.1:c.1196G>A, NM_001354287.2:c.1196G>A, NM_001354287.1:c.1196G>A, XM_047431220.1:c.1196G>A, XM_047431214.1:c.1196G>A, XM_047431215.1:c.1196G>A, XM_047431213.1:c.1196G>A, XM_047431226.1:c.1196G>A, XM_047431212.1:c.1196G>A, XM_047431227.1:c.1196G>A, XM_047431211.1:c.1196G>A, XM_047431232.1:c.1196G>A, XM_047431228.1:c.1196G>A, XM_047431222.1:c.1196G>A, XM_047431233.1:c.1196G>A, XM_047431234.1:c.1196G>A, XM_047431225.1:c.1196G>A, XM_047431235.1:c.1196G>A, XM_047431236.1:c.1196G>A, XM_047431237.1:c.1196G>A, XM_047431216.1:c.1196G>A, XM_047431217.1:c.1196G>A, XM_047431229.1:c.1196G>A, XM_047431223.1:c.1196G>A, XM_047431218.1:c.1196G>A, XM_047431209.1:c.1196G>A, XM_047431224.1:c.1196G>A, XM_047431219.1:c.1196G>A, XM_047431231.1:c.1196G>A, NM_001386936.1:c.1196G>A, XP_005267573.1:p.Ser399Asn, NP_056371.1:p.Ser399Asn, NP_001271176.1:p.Ser399Asn, NP_001271174.1:p.Ser399Asn, XP_011534934.1:p.Ser399Asn, XP_016876674.1:p.Ser399Asn, NP_001271175.1:p.Ser399Asn, XP_024305297.1:p.Ser399Asn, NP_001341215.1:p.Ser399Asn, NP_001341214.1:p.Ser399Asn, NP_001341217.1:p.Ser399Asn, NP_001341216.1:p.Ser399Asn, XP_047287176.1:p.Ser399Asn, XP_047287170.1:p.Ser399Asn, XP_047287171.1:p.Ser399Asn, XP_047287169.1:p.Ser399Asn, XP_047287182.1:p.Ser399Asn, XP_047287168.1:p.Ser399Asn, XP_047287183.1:p.Ser399Asn, XP_047287167.1:p.Ser399Asn, XP_047287188.1:p.Ser399Asn, XP_047287184.1:p.Ser399Asn, XP_047287178.1:p.Ser399Asn, XP_047287189.1:p.Ser399Asn, XP_047287190.1:p.Ser399Asn, XP_047287181.1:p.Ser399Asn, XP_047287191.1:p.Ser399Asn, XP_047287192.1:p.Ser399Asn, XP_047287193.1:p.Ser399Asn, XP_047287172.1:p.Ser399Asn, XP_047287173.1:p.Ser399Asn, XP_047287185.1:p.Ser399Asn, XP_047287179.1:p.Ser399Asn, XP_047287174.1:p.Ser399Asn, XP_047287165.1:p.Ser399Asn, XP_047287180.1:p.Ser399Asn, XP_047287175.1:p.Ser399Asn, XP_047287187.1:p.Ser399Asn, NP_001373865.1:p.Ser399Asn

                              15.

                              rs1481881932 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                14:71650438 (GRCh38)
                                14:72117155 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:71650437:T:A
                                Gene:
                                SIPA1L1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.71650438T>A, NC_000014.8:g.72117155T>A, XM_005267516.5:c.1922T>A, XM_005267516.4:c.1922T>A, XM_005267516.3:c.1922T>A, XM_005267516.2:c.1922T>A, XM_005267516.1:c.1922T>A, NM_015556.4:c.1922T>A, NM_015556.3:c.1922T>A, NM_015556.2:c.1922T>A, NM_015556.1:c.1922T>A, NM_001284247.3:c.1922T>A, NM_001284247.2:c.1922T>A, NM_001284247.1:c.1922T>A, NM_001284245.3:c.1922T>A, NM_001284245.2:c.1922T>A, NM_001284245.1:c.1922T>A, XM_011536638.3:c.347T>A, XM_011536638.2:c.347T>A, XM_011536638.1:c.347T>A, XM_011536632.2:c.1922T>A, XM_011536632.1:c.1922T>A, XM_017021185.2:c.1922T>A, XM_017021185.1:c.1922T>A, NM_001284246.2:c.1922T>A, NM_001284246.1:c.1922T>A, XM_024449529.2:c.1922T>A, XM_024449529.1:c.1922T>A, NM_001354286.2:c.1922T>A, NM_001354286.1:c.1922T>A, NM_001354285.2:c.1922T>A, NM_001354285.1:c.1922T>A, NM_001354288.2:c.1922T>A, NM_001354288.1:c.1922T>A, NM_001354287.2:c.1922T>A, NM_001354287.1:c.1922T>A, NM_001354289.2:c.440T>A, NM_001354289.1:c.440T>A, XM_017021198.2:c.440T>A, XM_017021198.1:c.440T>A, XM_047431220.1:c.1922T>A, XM_047431214.1:c.1922T>A, XM_047431215.1:c.1922T>A, XM_047431213.1:c.1922T>A, XM_047431226.1:c.1922T>A, XM_047431212.1:c.1922T>A, XM_047431227.1:c.1922T>A, XM_047431211.1:c.1922T>A, XM_047431232.1:c.1922T>A, XM_047431228.1:c.1922T>A, XM_047431222.1:c.1922T>A, XM_047431233.1:c.1922T>A, XM_047431234.1:c.1922T>A, XM_047431225.1:c.1922T>A, XM_047431235.1:c.1922T>A, XM_047431236.1:c.1922T>A, XM_047431237.1:c.1922T>A, XM_047431216.1:c.1922T>A, XM_047431217.1:c.1922T>A, XM_047431229.1:c.1922T>A, XM_047431223.1:c.1922T>A, XM_047431218.1:c.1922T>A, XM_047431209.1:c.1922T>A, XM_047431224.1:c.1922T>A, XM_047431219.1:c.1922T>A, XM_047431240.1:c.440T>A, XM_047431231.1:c.1922T>A, NM_001386936.1:c.1922T>A, XM_047431244.1:c.440T>A, XM_047431248.1:c.440T>A, XM_047431241.1:c.440T>A, XM_047431250.1:c.440T>A, XM_047431251.1:c.440T>A, XM_047431239.1:c.440T>A, XM_047431243.1:c.440T>A, XM_047431245.1:c.440T>A, XM_047431238.1:c.440T>A, XM_047431253.1:c.440T>A, XM_047431246.1:c.440T>A, XM_047431242.1:c.440T>A, XM_047431247.1:c.440T>A, XM_047431249.1:c.440T>A, XM_047431252.1:c.440T>A, XP_005267573.1:p.Phe641Tyr, NP_056371.1:p.Phe641Tyr, NP_001271176.1:p.Phe641Tyr, NP_001271174.1:p.Phe641Tyr, XP_011534940.1:p.Phe116Tyr, XP_011534934.1:p.Phe641Tyr, XP_016876674.1:p.Phe641Tyr, NP_001271175.1:p.Phe641Tyr, XP_024305297.1:p.Phe641Tyr, NP_001341215.1:p.Phe641Tyr, NP_001341214.1:p.Phe641Tyr, NP_001341217.1:p.Phe641Tyr, NP_001341216.1:p.Phe641Tyr, NP_001341218.1:p.Phe147Tyr, XP_016876687.1:p.Phe147Tyr, XP_047287176.1:p.Phe641Tyr, XP_047287170.1:p.Phe641Tyr, XP_047287171.1:p.Phe641Tyr, XP_047287169.1:p.Phe641Tyr, XP_047287182.1:p.Phe641Tyr, XP_047287168.1:p.Phe641Tyr, XP_047287183.1:p.Phe641Tyr, XP_047287167.1:p.Phe641Tyr, XP_047287188.1:p.Phe641Tyr, XP_047287184.1:p.Phe641Tyr, XP_047287178.1:p.Phe641Tyr, XP_047287189.1:p.Phe641Tyr, XP_047287190.1:p.Phe641Tyr, XP_047287181.1:p.Phe641Tyr, XP_047287191.1:p.Phe641Tyr, XP_047287192.1:p.Phe641Tyr, XP_047287193.1:p.Phe641Tyr, XP_047287172.1:p.Phe641Tyr, XP_047287173.1:p.Phe641Tyr, XP_047287185.1:p.Phe641Tyr, XP_047287179.1:p.Phe641Tyr, XP_047287174.1:p.Phe641Tyr, XP_047287165.1:p.Phe641Tyr, XP_047287180.1:p.Phe641Tyr, XP_047287175.1:p.Phe641Tyr, XP_047287196.1:p.Phe147Tyr, XP_047287187.1:p.Phe641Tyr, NP_001373865.1:p.Phe641Tyr, XP_047287200.1:p.Phe147Tyr, XP_047287204.1:p.Phe147Tyr, XP_047287197.1:p.Phe147Tyr, XP_047287206.1:p.Phe147Tyr, XP_047287207.1:p.Phe147Tyr, XP_047287195.1:p.Phe147Tyr, XP_047287199.1:p.Phe147Tyr, XP_047287201.1:p.Phe147Tyr, XP_047287194.1:p.Phe147Tyr, XP_047287209.1:p.Phe147Tyr, XP_047287202.1:p.Phe147Tyr, XP_047287198.1:p.Phe147Tyr, XP_047287203.1:p.Phe147Tyr, XP_047287205.1:p.Phe147Tyr, XP_047287208.1:p.Phe147Tyr

                                16.

                                rs1481820348 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->AATATAC [Show Flanks]
                                  Chromosome:
                                  14:71589177 (GRCh38)
                                  14:72055895 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:71589177::AATATAC
                                  Gene:
                                  SIPA1L1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant
                                  HGVS:
                                  NC_000014.9:g.71589177_71589178insAATATAC, NC_000014.8:g.72055894_72055895insAATATAC, XM_005267516.5:c.1305_1306insAATATAC, XM_005267516.4:c.1305_1306insAATATAC, XM_005267516.3:c.1305_1306insAATATAC, XM_005267516.2:c.1305_1306insAATATAC, XM_005267516.1:c.1305_1306insAATATAC, NM_015556.4:c.1305_1306insAATATAC, NM_015556.3:c.1305_1306insAATATAC, NM_015556.2:c.1305_1306insAATATAC, NM_015556.1:c.1305_1306insAATATAC, NM_001284247.3:c.1305_1306insAATATAC, NM_001284247.2:c.1305_1306insAATATAC, NM_001284247.1:c.1305_1306insAATATAC, NM_001284245.3:c.1305_1306insAATATAC, NM_001284245.2:c.1305_1306insAATATAC, NM_001284245.1:c.1305_1306insAATATAC, XM_011536632.2:c.1305_1306insAATATAC, XM_011536632.1:c.1305_1306insAATATAC, XM_017021185.2:c.1305_1306insAATATAC, XM_017021185.1:c.1305_1306insAATATAC, NM_001284246.2:c.1305_1306insAATATAC, NM_001284246.1:c.1305_1306insAATATAC, XM_024449529.2:c.1305_1306insAATATAC, XM_024449529.1:c.1305_1306insAATATAC, NM_001354286.2:c.1305_1306insAATATAC, NM_001354286.1:c.1305_1306insAATATAC, NM_001354285.2:c.1305_1306insAATATAC, NM_001354285.1:c.1305_1306insAATATAC, NM_001354288.2:c.1305_1306insAATATAC, NM_001354288.1:c.1305_1306insAATATAC, NM_001354287.2:c.1305_1306insAATATAC, NM_001354287.1:c.1305_1306insAATATAC, XM_047431220.1:c.1305_1306insAATATAC, XM_047431214.1:c.1305_1306insAATATAC, XM_047431215.1:c.1305_1306insAATATAC, XM_047431213.1:c.1305_1306insAATATAC, XM_047431226.1:c.1305_1306insAATATAC, XM_047431212.1:c.1305_1306insAATATAC, XM_047431227.1:c.1305_1306insAATATAC, XM_047431211.1:c.1305_1306insAATATAC, XM_047431232.1:c.1305_1306insAATATAC, XM_047431228.1:c.1305_1306insAATATAC, XM_047431222.1:c.1305_1306insAATATAC, XM_047431233.1:c.1305_1306insAATATAC, XM_047431234.1:c.1305_1306insAATATAC, XM_047431225.1:c.1305_1306insAATATAC, XM_047431235.1:c.1305_1306insAATATAC, XM_047431236.1:c.1305_1306insAATATAC, XM_047431237.1:c.1305_1306insAATATAC, XM_047431216.1:c.1305_1306insAATATAC, XM_047431217.1:c.1305_1306insAATATAC, XM_047431229.1:c.1305_1306insAATATAC, XM_047431223.1:c.1305_1306insAATATAC, XM_047431218.1:c.1305_1306insAATATAC, XM_047431209.1:c.1305_1306insAATATAC, XM_047431224.1:c.1305_1306insAATATAC, XM_047431219.1:c.1305_1306insAATATAC, XM_047431231.1:c.1305_1306insAATATAC, NM_001386936.1:c.1305_1306insAATATAC, XP_005267573.1:p.Ser436fs, NP_056371.1:p.Ser436fs, NP_001271176.1:p.Ser436fs, NP_001271174.1:p.Ser436fs, XP_011534934.1:p.Ser436fs, XP_016876674.1:p.Ser436fs, NP_001271175.1:p.Ser436fs, XP_024305297.1:p.Ser436fs, NP_001341215.1:p.Ser436fs, NP_001341214.1:p.Ser436fs, NP_001341217.1:p.Ser436fs, NP_001341216.1:p.Ser436fs, XP_047287176.1:p.Ser436fs, XP_047287170.1:p.Ser436fs, XP_047287171.1:p.Ser436fs, XP_047287169.1:p.Ser436fs, XP_047287182.1:p.Ser436fs, XP_047287168.1:p.Ser436fs, XP_047287183.1:p.Ser436fs, XP_047287167.1:p.Ser436fs, XP_047287188.1:p.Ser436fs, XP_047287184.1:p.Ser436fs, XP_047287178.1:p.Ser436fs, XP_047287189.1:p.Ser436fs, XP_047287190.1:p.Ser436fs, XP_047287181.1:p.Ser436fs, XP_047287191.1:p.Ser436fs, XP_047287192.1:p.Ser436fs, XP_047287193.1:p.Ser436fs, XP_047287172.1:p.Ser436fs, XP_047287173.1:p.Ser436fs, XP_047287185.1:p.Ser436fs, XP_047287179.1:p.Ser436fs, XP_047287174.1:p.Ser436fs, XP_047287165.1:p.Ser436fs, XP_047287180.1:p.Ser436fs, XP_047287175.1:p.Ser436fs, XP_047287187.1:p.Ser436fs, NP_001373865.1:p.Ser436fs

                                  17.

                                  rs1481048939 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    14:71650444 (GRCh38)
                                    14:72117161 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:71650443:A:T
                                    Gene:
                                    SIPA1L1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.71650444A>T, NC_000014.8:g.72117161A>T, XM_005267516.5:c.1928A>T, XM_005267516.4:c.1928A>T, XM_005267516.3:c.1928A>T, XM_005267516.2:c.1928A>T, XM_005267516.1:c.1928A>T, NM_015556.4:c.1928A>T, NM_015556.3:c.1928A>T, NM_015556.2:c.1928A>T, NM_015556.1:c.1928A>T, NM_001284247.3:c.1928A>T, NM_001284247.2:c.1928A>T, NM_001284247.1:c.1928A>T, NM_001284245.3:c.1928A>T, NM_001284245.2:c.1928A>T, NM_001284245.1:c.1928A>T, XM_011536638.3:c.353A>T, XM_011536638.2:c.353A>T, XM_011536638.1:c.353A>T, XM_011536632.2:c.1928A>T, XM_011536632.1:c.1928A>T, XM_017021185.2:c.1928A>T, XM_017021185.1:c.1928A>T, NM_001284246.2:c.1928A>T, NM_001284246.1:c.1928A>T, XM_024449529.2:c.1928A>T, XM_024449529.1:c.1928A>T, NM_001354286.2:c.1928A>T, NM_001354286.1:c.1928A>T, NM_001354285.2:c.1928A>T, NM_001354285.1:c.1928A>T, NM_001354288.2:c.1928A>T, NM_001354288.1:c.1928A>T, NM_001354287.2:c.1928A>T, NM_001354287.1:c.1928A>T, NM_001354289.2:c.446A>T, NM_001354289.1:c.446A>T, XM_017021198.2:c.446A>T, XM_017021198.1:c.446A>T, XM_047431220.1:c.1928A>T, XM_047431214.1:c.1928A>T, XM_047431215.1:c.1928A>T, XM_047431213.1:c.1928A>T, XM_047431226.1:c.1928A>T, XM_047431212.1:c.1928A>T, XM_047431227.1:c.1928A>T, XM_047431211.1:c.1928A>T, XM_047431232.1:c.1928A>T, XM_047431228.1:c.1928A>T, XM_047431222.1:c.1928A>T, XM_047431233.1:c.1928A>T, XM_047431234.1:c.1928A>T, XM_047431225.1:c.1928A>T, XM_047431235.1:c.1928A>T, XM_047431236.1:c.1928A>T, XM_047431237.1:c.1928A>T, XM_047431216.1:c.1928A>T, XM_047431217.1:c.1928A>T, XM_047431229.1:c.1928A>T, XM_047431223.1:c.1928A>T, XM_047431218.1:c.1928A>T, XM_047431209.1:c.1928A>T, XM_047431224.1:c.1928A>T, XM_047431219.1:c.1928A>T, XM_047431240.1:c.446A>T, XM_047431231.1:c.1928A>T, NM_001386936.1:c.1928A>T, XM_047431244.1:c.446A>T, XM_047431248.1:c.446A>T, XM_047431241.1:c.446A>T, XM_047431250.1:c.446A>T, XM_047431251.1:c.446A>T, XM_047431239.1:c.446A>T, XM_047431243.1:c.446A>T, XM_047431245.1:c.446A>T, XM_047431238.1:c.446A>T, XM_047431253.1:c.446A>T, XM_047431246.1:c.446A>T, XM_047431242.1:c.446A>T, XM_047431247.1:c.446A>T, XM_047431249.1:c.446A>T, XM_047431252.1:c.446A>T, XP_005267573.1:p.Gln643Leu, NP_056371.1:p.Gln643Leu, NP_001271176.1:p.Gln643Leu, NP_001271174.1:p.Gln643Leu, XP_011534940.1:p.Gln118Leu, XP_011534934.1:p.Gln643Leu, XP_016876674.1:p.Gln643Leu, NP_001271175.1:p.Gln643Leu, XP_024305297.1:p.Gln643Leu, NP_001341215.1:p.Gln643Leu, NP_001341214.1:p.Gln643Leu, NP_001341217.1:p.Gln643Leu, NP_001341216.1:p.Gln643Leu, NP_001341218.1:p.Gln149Leu, XP_016876687.1:p.Gln149Leu, XP_047287176.1:p.Gln643Leu, XP_047287170.1:p.Gln643Leu, XP_047287171.1:p.Gln643Leu, XP_047287169.1:p.Gln643Leu, XP_047287182.1:p.Gln643Leu, XP_047287168.1:p.Gln643Leu, XP_047287183.1:p.Gln643Leu, XP_047287167.1:p.Gln643Leu, XP_047287188.1:p.Gln643Leu, XP_047287184.1:p.Gln643Leu, XP_047287178.1:p.Gln643Leu, XP_047287189.1:p.Gln643Leu, XP_047287190.1:p.Gln643Leu, XP_047287181.1:p.Gln643Leu, XP_047287191.1:p.Gln643Leu, XP_047287192.1:p.Gln643Leu, XP_047287193.1:p.Gln643Leu, XP_047287172.1:p.Gln643Leu, XP_047287173.1:p.Gln643Leu, XP_047287185.1:p.Gln643Leu, XP_047287179.1:p.Gln643Leu, XP_047287174.1:p.Gln643Leu, XP_047287165.1:p.Gln643Leu, XP_047287180.1:p.Gln643Leu, XP_047287175.1:p.Gln643Leu, XP_047287196.1:p.Gln149Leu, XP_047287187.1:p.Gln643Leu, NP_001373865.1:p.Gln643Leu, XP_047287200.1:p.Gln149Leu, XP_047287204.1:p.Gln149Leu, XP_047287197.1:p.Gln149Leu, XP_047287206.1:p.Gln149Leu, XP_047287207.1:p.Gln149Leu, XP_047287195.1:p.Gln149Leu, XP_047287199.1:p.Gln149Leu, XP_047287201.1:p.Gln149Leu, XP_047287194.1:p.Gln149Leu, XP_047287209.1:p.Gln149Leu, XP_047287202.1:p.Gln149Leu, XP_047287198.1:p.Gln149Leu, XP_047287203.1:p.Gln149Leu, XP_047287205.1:p.Gln149Leu, XP_047287208.1:p.Gln149Leu

                                    18.

                                    rs1480353102 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:71589079 (GRCh38)
                                      14:72055796 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:71589078:G:A
                                      Gene:
                                      SIPA1L1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000047/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.71589079G>A, NC_000014.8:g.72055796G>A, XM_005267516.5:c.1207G>A, XM_005267516.4:c.1207G>A, XM_005267516.3:c.1207G>A, XM_005267516.2:c.1207G>A, XM_005267516.1:c.1207G>A, NM_015556.4:c.1207G>A, NM_015556.3:c.1207G>A, NM_015556.2:c.1207G>A, NM_015556.1:c.1207G>A, NM_001284247.3:c.1207G>A, NM_001284247.2:c.1207G>A, NM_001284247.1:c.1207G>A, NM_001284245.3:c.1207G>A, NM_001284245.2:c.1207G>A, NM_001284245.1:c.1207G>A, XM_011536632.2:c.1207G>A, XM_011536632.1:c.1207G>A, XM_017021185.2:c.1207G>A, XM_017021185.1:c.1207G>A, NM_001284246.2:c.1207G>A, NM_001284246.1:c.1207G>A, XM_024449529.2:c.1207G>A, XM_024449529.1:c.1207G>A, NM_001354286.2:c.1207G>A, NM_001354286.1:c.1207G>A, NM_001354285.2:c.1207G>A, NM_001354285.1:c.1207G>A, NM_001354288.2:c.1207G>A, NM_001354288.1:c.1207G>A, NM_001354287.2:c.1207G>A, NM_001354287.1:c.1207G>A, XM_047431220.1:c.1207G>A, XM_047431214.1:c.1207G>A, XM_047431215.1:c.1207G>A, XM_047431213.1:c.1207G>A, XM_047431226.1:c.1207G>A, XM_047431212.1:c.1207G>A, XM_047431227.1:c.1207G>A, XM_047431211.1:c.1207G>A, XM_047431232.1:c.1207G>A, XM_047431228.1:c.1207G>A, XM_047431222.1:c.1207G>A, XM_047431233.1:c.1207G>A, XM_047431234.1:c.1207G>A, XM_047431225.1:c.1207G>A, XM_047431235.1:c.1207G>A, XM_047431236.1:c.1207G>A, XM_047431237.1:c.1207G>A, XM_047431216.1:c.1207G>A, XM_047431217.1:c.1207G>A, XM_047431229.1:c.1207G>A, XM_047431223.1:c.1207G>A, XM_047431218.1:c.1207G>A, XM_047431209.1:c.1207G>A, XM_047431224.1:c.1207G>A, XM_047431219.1:c.1207G>A, XM_047431231.1:c.1207G>A, NM_001386936.1:c.1207G>A, XP_005267573.1:p.Gly403Arg, NP_056371.1:p.Gly403Arg, NP_001271176.1:p.Gly403Arg, NP_001271174.1:p.Gly403Arg, XP_011534934.1:p.Gly403Arg, XP_016876674.1:p.Gly403Arg, NP_001271175.1:p.Gly403Arg, XP_024305297.1:p.Gly403Arg, NP_001341215.1:p.Gly403Arg, NP_001341214.1:p.Gly403Arg, NP_001341217.1:p.Gly403Arg, NP_001341216.1:p.Gly403Arg, XP_047287176.1:p.Gly403Arg, XP_047287170.1:p.Gly403Arg, XP_047287171.1:p.Gly403Arg, XP_047287169.1:p.Gly403Arg, XP_047287182.1:p.Gly403Arg, XP_047287168.1:p.Gly403Arg, XP_047287183.1:p.Gly403Arg, XP_047287167.1:p.Gly403Arg, XP_047287188.1:p.Gly403Arg, XP_047287184.1:p.Gly403Arg, XP_047287178.1:p.Gly403Arg, XP_047287189.1:p.Gly403Arg, XP_047287190.1:p.Gly403Arg, XP_047287181.1:p.Gly403Arg, XP_047287191.1:p.Gly403Arg, XP_047287192.1:p.Gly403Arg, XP_047287193.1:p.Gly403Arg, XP_047287172.1:p.Gly403Arg, XP_047287173.1:p.Gly403Arg, XP_047287185.1:p.Gly403Arg, XP_047287179.1:p.Gly403Arg, XP_047287174.1:p.Gly403Arg, XP_047287165.1:p.Gly403Arg, XP_047287180.1:p.Gly403Arg, XP_047287175.1:p.Gly403Arg, XP_047287187.1:p.Gly403Arg, NP_001373865.1:p.Gly403Arg

                                      19.

                                      rs1479785824 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:71588279 (GRCh38)
                                        14:72054996 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:71588278:A:G
                                        Gene:
                                        SIPA1L1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000014.9:g.71588279A>G, NC_000014.8:g.72054996A>G, XM_005267516.5:c.407A>G, XM_005267516.4:c.407A>G, XM_005267516.3:c.407A>G, XM_005267516.2:c.407A>G, XM_005267516.1:c.407A>G, NM_015556.4:c.407A>G, NM_015556.3:c.407A>G, NM_015556.2:c.407A>G, NM_015556.1:c.407A>G, NM_001284247.3:c.407A>G, NM_001284247.2:c.407A>G, NM_001284247.1:c.407A>G, NM_001284245.3:c.407A>G, NM_001284245.2:c.407A>G, NM_001284245.1:c.407A>G, XM_011536632.2:c.407A>G, XM_011536632.1:c.407A>G, XM_017021185.2:c.407A>G, XM_017021185.1:c.407A>G, NM_001284246.2:c.407A>G, NM_001284246.1:c.407A>G, XM_024449529.2:c.407A>G, XM_024449529.1:c.407A>G, NM_001354286.2:c.407A>G, NM_001354286.1:c.407A>G, NM_001354285.2:c.407A>G, NM_001354285.1:c.407A>G, NM_001354288.2:c.407A>G, NM_001354288.1:c.407A>G, NM_001354287.2:c.407A>G, NM_001354287.1:c.407A>G, XM_047431220.1:c.407A>G, XM_047431214.1:c.407A>G, XM_047431215.1:c.407A>G, XM_047431213.1:c.407A>G, XM_047431226.1:c.407A>G, XM_047431212.1:c.407A>G, XM_047431227.1:c.407A>G, XM_047431211.1:c.407A>G, XM_047431232.1:c.407A>G, XM_047431228.1:c.407A>G, XM_047431222.1:c.407A>G, XM_047431233.1:c.407A>G, XM_047431234.1:c.407A>G, XM_047431225.1:c.407A>G, XM_047431235.1:c.407A>G, XM_047431236.1:c.407A>G, XM_047431237.1:c.407A>G, XM_047431216.1:c.407A>G, XM_047431217.1:c.407A>G, XM_047431229.1:c.407A>G, XM_047431223.1:c.407A>G, XM_047431218.1:c.407A>G, XM_047431209.1:c.407A>G, XM_047431224.1:c.407A>G, XM_047431219.1:c.407A>G, XM_047431231.1:c.407A>G, NM_001386936.1:c.407A>G, XP_005267573.1:p.Gln136Arg, NP_056371.1:p.Gln136Arg, NP_001271176.1:p.Gln136Arg, NP_001271174.1:p.Gln136Arg, XP_011534934.1:p.Gln136Arg, XP_016876674.1:p.Gln136Arg, NP_001271175.1:p.Gln136Arg, XP_024305297.1:p.Gln136Arg, NP_001341215.1:p.Gln136Arg, NP_001341214.1:p.Gln136Arg, NP_001341217.1:p.Gln136Arg, NP_001341216.1:p.Gln136Arg, XP_047287176.1:p.Gln136Arg, XP_047287170.1:p.Gln136Arg, XP_047287171.1:p.Gln136Arg, XP_047287169.1:p.Gln136Arg, XP_047287182.1:p.Gln136Arg, XP_047287168.1:p.Gln136Arg, XP_047287183.1:p.Gln136Arg, XP_047287167.1:p.Gln136Arg, XP_047287188.1:p.Gln136Arg, XP_047287184.1:p.Gln136Arg, XP_047287178.1:p.Gln136Arg, XP_047287189.1:p.Gln136Arg, XP_047287190.1:p.Gln136Arg, XP_047287181.1:p.Gln136Arg, XP_047287191.1:p.Gln136Arg, XP_047287192.1:p.Gln136Arg, XP_047287193.1:p.Gln136Arg, XP_047287172.1:p.Gln136Arg, XP_047287173.1:p.Gln136Arg, XP_047287185.1:p.Gln136Arg, XP_047287179.1:p.Gln136Arg, XP_047287174.1:p.Gln136Arg, XP_047287165.1:p.Gln136Arg, XP_047287180.1:p.Gln136Arg, XP_047287175.1:p.Gln136Arg, XP_047287187.1:p.Gln136Arg, NP_001373865.1:p.Gln136Arg

                                        20.

                                        rs1476799974 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          14:71705298 (GRCh38)
                                          14:72172015 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:71705297:G:T
                                          Gene:
                                          SIPA1L1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000014.9:g.71705298G>T, NC_000014.8:g.72172015G>T, XM_005267516.5:c.3786G>T, XM_005267516.4:c.3786G>T, XM_005267516.3:c.3786G>T, XM_005267516.2:c.3786G>T, XM_005267516.1:c.3786G>T, NM_015556.4:c.3786G>T, NM_015556.3:c.3786G>T, NM_015556.2:c.3786G>T, NM_015556.1:c.3786G>T, NM_001284247.3:c.3786G>T, NM_001284247.2:c.3786G>T, NM_001284247.1:c.3786G>T, NM_001284245.3:c.3723G>T, NM_001284245.2:c.3723G>T, NM_001284245.1:c.3723G>T, XM_011536638.3:c.2211G>T, XM_011536638.2:c.2211G>T, XM_011536638.1:c.2211G>T, XM_011536632.2:c.3786G>T, XM_011536632.1:c.3786G>T, XM_017021185.2:c.3786G>T, XM_017021185.1:c.3786G>T, NM_001284246.2:c.3723G>T, NM_001284246.1:c.3723G>T, XM_024449529.2:c.3786G>T, XM_024449529.1:c.3786G>T, NM_001354286.2:c.3723G>T, NM_001354286.1:c.3723G>T, NM_001354285.2:c.3786G>T, NM_001354285.1:c.3786G>T, NM_001354288.2:c.3723G>T, NM_001354288.1:c.3723G>T, NM_001354287.2:c.3723G>T, NM_001354287.1:c.3723G>T, NM_001354289.2:c.2241G>T, NM_001354289.1:c.2241G>T, XM_017021198.2:c.2304G>T, XM_017021198.1:c.2304G>T, XM_047431220.1:c.3786G>T, XM_047431214.1:c.3786G>T, XM_047431215.1:c.3786G>T, XM_047431213.1:c.3786G>T, XM_047431226.1:c.3786G>T, XM_047431212.1:c.3786G>T, XM_047431227.1:c.3786G>T, XM_047431211.1:c.3786G>T, XM_047431232.1:c.3786G>T, XM_047431228.1:c.3786G>T, XM_047431222.1:c.3786G>T, XM_047431233.1:c.3723G>T, XM_047431234.1:c.3723G>T, XM_047431225.1:c.3786G>T, XM_047431235.1:c.3639G>T, XM_047431236.1:c.3576G>T, XM_047431237.1:c.3576G>T, XM_047431216.1:c.3786G>T, XM_047431217.1:c.3786G>T, XM_047431229.1:c.3786G>T, XM_047431223.1:c.3786G>T, XM_047431218.1:c.3786G>T, XM_047431209.1:c.3786G>T, XM_047431224.1:c.3786G>T, XM_047431219.1:c.3786G>T, XM_047431240.1:c.2304G>T, XM_047431231.1:c.3786G>T, NM_001386936.1:c.3723G>T, XM_047431244.1:c.2304G>T, XM_047431248.1:c.2241G>T, XM_047431241.1:c.2304G>T, XM_047431250.1:c.2241G>T, XM_047431251.1:c.2241G>T, XM_047431239.1:c.2304G>T, XM_047431243.1:c.2304G>T, XM_047431245.1:c.2304G>T, XM_047431238.1:c.2304G>T, XM_047431253.1:c.2241G>T, XM_047431246.1:c.2304G>T, XM_047431242.1:c.2304G>T, XM_047431247.1:c.2241G>T, XM_047431249.1:c.2241G>T, XM_047431252.1:c.2241G>T

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