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Items: 1 to 20 of 744

1.

rs1490193273 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:114465787 (GRCh38)
    10:116225546 (GRCh37)
    Canonical SPDI:
    NC_000010.11:114465786:G:A
    Gene:
    ABLIM1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000043/1 (ALFA)
    A=0.000008/2 (GnomAD_exomes)
    A=0.000008/2 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000010.11:g.114465787G>A, NC_000010.10:g.116225546G>A, NG_029872.2:g.360857C>T, NM_002313.7:c.1352C>T, NM_002313.6:c.1352C>T, NM_002313.5:c.1352C>T, NM_006720.4:c.488C>T, NM_006720.3:c.488C>T, NM_001322884.3:c.1121C>T, NM_001322884.2:c.1121C>T, NM_001322884.1:c.1121C>T, NM_001322885.3:c.1121C>T, NM_001322885.2:c.1121C>T, NM_001322885.1:c.1121C>T, NM_001322886.3:c.1121C>T, NM_001322886.2:c.1121C>T, NM_001322886.1:c.1121C>T, NM_001322882.2:c.1256C>T, NM_001322882.1:c.1256C>T, NM_001003407.2:c.1172C>T, NM_001003407.1:c.1172C>T, NM_001322883.2:c.1172C>T, NM_001322883.1:c.1172C>T, NM_001352442.2:c.896C>T, NM_001352442.1:c.896C>T, NM_001322887.2:c.1172C>T, NM_001322887.1:c.1172C>T, NM_001352443.2:c.404C>T, NM_001352443.1:c.404C>T, NM_001322888.2:c.404C>T, NM_001322888.1:c.404C>T, NM_001322889.2:c.488C>T, NM_001322889.1:c.488C>T, NM_001322891.2:c.404C>T, NM_001322891.1:c.404C>T, NM_001322893.2:c.404C>T, NM_001322893.1:c.404C>T, NM_001322890.2:c.404C>T, NM_001322890.1:c.404C>T, NM_001322892.2:c.404C>T, NM_001322892.1:c.404C>T, NM_001322894.2:c.404C>T, NM_001322894.1:c.404C>T, NM_001322895.2:c.404C>T, NM_001322895.1:c.404C>T, NM_001322896.2:c.326C>T, NM_001322896.1:c.326C>T, NM_001322897.2:c.326C>T, NM_001322897.1:c.326C>T, NM_001322899.2:c.404C>T, NM_001322899.1:c.404C>T, NM_001322898.2:c.404C>T, NM_001322898.1:c.404C>T, NM_001322900.2:c.326C>T, NM_001322900.1:c.326C>T, NM_001352440.1:c.1124C>T, NM_001352441.1:c.1124C>T, XM_006717846.4:c.488C>T, XM_006717846.3:c.488C>T, XM_006717846.2:c.488C>T, XM_006717846.1:c.488C>T, XM_006717837.3:c.1256C>T, XM_006717837.2:c.1256C>T, XM_006717837.1:c.1256C>T, XM_011539802.3:c.1226C>T, XM_011539802.2:c.1226C>T, XM_011539802.1:c.1208C>T, XM_011539801.3:c.980C>T, XM_011539801.2:c.980C>T, XM_011539801.1:c.1295C>T, NM_006719.3:c.896C>T, XM_024448014.2:c.1208C>T, XM_024448014.1:c.1208C>T, XM_024448016.2:c.1124C>T, XM_024448016.1:c.1124C>T, XM_024448018.2:c.1208C>T, XM_024448018.1:c.1208C>T, XM_024448010.2:c.1397C>T, XM_024448010.1:c.980C>T, XM_017016245.2:c.1205C>T, XM_017016245.1:c.1205C>T, XM_017016256.2:c.1124C>T, XM_017016256.1:c.1124C>T, XM_017016250.2:c.1121C>T, XM_017016250.1:c.1121C>T, XM_024448011.2:c.1397C>T, XM_024448011.1:c.980C>T, XM_017016247.2:c.1397C>T, XM_017016247.1:c.980C>T, XM_017016255.2:c.1121C>T, XM_017016255.1:c.1121C>T, XM_024448013.2:c.896C>T, XM_024448013.1:c.896C>T, NM_006719.2:c.896C>T, XM_047425233.1:c.1172C>T, XM_047425243.1:c.1172C>T, NM_001003408.1:c.1256C>T, XM_047425229.1:c.1397C>T, XM_047425231.1:c.1313C>T, XM_047425232.1:c.1313C>T, XM_047425234.1:c.1397C>T, XM_047425236.1:c.1397C>T, XM_047425237.1:c.1313C>T, XM_047425238.1:c.1313C>T, XM_047425239.1:c.1313C>T, XM_047425240.1:c.1397C>T, XM_047425242.1:c.1313C>T, XM_047425246.1:c.1124C>T, XM_047425244.1:c.1397C>T, XM_047425245.1:c.1313C>T, NP_002304.3:p.Thr451Met, NP_006711.3:p.Thr163Met, NP_001309813.1:p.Thr374Met, NP_001309814.1:p.Thr374Met, NP_001309815.1:p.Thr374Met, NP_001309811.1:p.Thr419Met, NP_001003407.1:p.Thr391Met, NP_001309812.1:p.Thr391Met, NP_001339371.1:p.Thr299Met, NP_001309816.1:p.Thr391Met, NP_001339372.1:p.Thr135Met, NP_001309817.1:p.Thr135Met, NP_001309818.1:p.Thr163Met, NP_001309820.1:p.Thr135Met, NP_001309822.1:p.Thr135Met, NP_001309819.1:p.Thr135Met, NP_001309821.1:p.Thr135Met, NP_001309823.1:p.Thr135Met, NP_001309824.1:p.Thr135Met, NP_001309825.1:p.Thr109Met, NP_001309826.1:p.Thr109Met, NP_001309828.1:p.Thr135Met, NP_001309827.1:p.Thr135Met, NP_001309829.1:p.Thr109Met, NP_001339369.1:p.Thr375Met, NP_001339370.1:p.Thr375Met, XP_006717909.1:p.Thr163Met, XP_006717900.1:p.Thr419Met, XP_011538104.2:p.Thr409Met, XP_011538103.2:p.Thr327Met, XP_024303782.1:p.Thr403Met, XP_024303784.1:p.Thr375Met, XP_024303786.1:p.Thr403Met, XP_024303778.2:p.Thr466Met, XP_016871734.1:p.Thr402Met, XP_016871745.1:p.Thr375Met, XP_016871739.1:p.Thr374Met, XP_024303779.2:p.Thr466Met, XP_016871736.2:p.Thr466Met, XP_016871744.1:p.Thr374Met, XP_024303781.1:p.Thr299Met, XP_047281189.1:p.Thr391Met, XP_047281199.1:p.Thr391Met, XP_047281185.1:p.Thr466Met, XP_047281187.1:p.Thr438Met, XP_047281188.1:p.Thr438Met, XP_047281190.1:p.Thr466Met, XP_047281192.1:p.Thr466Met, XP_047281193.1:p.Thr438Met, XP_047281194.1:p.Thr438Met, XP_047281195.1:p.Thr438Met, XP_047281196.1:p.Thr466Met, XP_047281198.1:p.Thr438Met, XP_047281202.1:p.Thr375Met, XP_047281200.1:p.Thr466Met, XP_047281201.1:p.Thr438Met

    2.

    rs1489706095 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:114473115 (GRCh38)
      10:116232874 (GRCh37)
      Canonical SPDI:
      NC_000010.11:114473114:C:T
      Gene:
      ABLIM1 (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_000010.11:g.114473115C>T, NC_000010.10:g.116232874C>T, NG_029872.2:g.353529G>A, NM_002313.7:c.1137G>A, NM_002313.6:c.1137G>A, NM_002313.5:c.1137G>A, NM_006720.4:c.273G>A, NM_006720.3:c.273G>A, NM_001322884.3:c.906G>A, NM_001322884.2:c.906G>A, NM_001322884.1:c.906G>A, NM_001322885.3:c.906G>A, NM_001322885.2:c.906G>A, NM_001322885.1:c.906G>A, NM_001322886.3:c.906G>A, NM_001322886.2:c.906G>A, NM_001322886.1:c.906G>A, NM_001322882.2:c.1041G>A, NM_001322882.1:c.1041G>A, NM_001003407.2:c.957G>A, NM_001003407.1:c.957G>A, NM_001322883.2:c.957G>A, NM_001322883.1:c.957G>A, NM_001352442.2:c.681G>A, NM_001352442.1:c.681G>A, NM_001322887.2:c.957G>A, NM_001322887.1:c.957G>A, NM_001352443.2:c.189G>A, NM_001352443.1:c.189G>A, NM_001322888.2:c.189G>A, NM_001322888.1:c.189G>A, NM_001322889.2:c.273G>A, NM_001322889.1:c.273G>A, NM_001322891.2:c.189G>A, NM_001322891.1:c.189G>A, NM_001322893.2:c.189G>A, NM_001322893.1:c.189G>A, NM_001322890.2:c.189G>A, NM_001322890.1:c.189G>A, NM_001322892.2:c.189G>A, NM_001322892.1:c.189G>A, NM_001322894.2:c.189G>A, NM_001322894.1:c.189G>A, NM_001322895.2:c.189G>A, NM_001322895.1:c.189G>A, NM_001322896.2:c.111G>A, NM_001322896.1:c.111G>A, NM_001322897.2:c.111G>A, NM_001322897.1:c.111G>A, NM_001322899.2:c.189G>A, NM_001322899.1:c.189G>A, NM_001322898.2:c.189G>A, NM_001322898.1:c.189G>A, NM_001322900.2:c.111G>A, NM_001322900.1:c.111G>A, NM_001352440.1:c.909G>A, NM_001352441.1:c.909G>A, XM_006717846.4:c.273G>A, XM_006717846.3:c.273G>A, XM_006717846.2:c.273G>A, XM_006717846.1:c.273G>A, XM_006717837.3:c.1041G>A, XM_006717837.2:c.1041G>A, XM_006717837.1:c.1041G>A, XM_011539802.3:c.1011G>A, XM_011539802.2:c.1011G>A, XM_011539802.1:c.993G>A, XM_011539801.3:c.765G>A, XM_011539801.2:c.765G>A, XM_011539801.1:c.1080G>A, NM_006719.3:c.681G>A, XM_024448014.2:c.993G>A, XM_024448014.1:c.993G>A, XM_024448016.2:c.909G>A, XM_024448016.1:c.909G>A, XM_024448018.2:c.993G>A, XM_024448018.1:c.993G>A, XM_024448010.2:c.1182G>A, XM_024448010.1:c.765G>A, XM_017016245.2:c.990G>A, XM_017016245.1:c.990G>A, XM_017016256.2:c.909G>A, XM_017016256.1:c.909G>A, XM_017016250.2:c.906G>A, XM_017016250.1:c.906G>A, XM_024448011.2:c.1182G>A, XM_024448011.1:c.765G>A, XM_017016247.2:c.1182G>A, XM_017016247.1:c.765G>A, XM_017016255.2:c.906G>A, XM_017016255.1:c.906G>A, XM_024448013.2:c.681G>A, XM_024448013.1:c.681G>A, NM_006719.2:c.681G>A, XM_047425233.1:c.957G>A, XM_047425243.1:c.957G>A, NM_001003408.1:c.1041G>A, XM_047425229.1:c.1182G>A, XM_047425231.1:c.1098G>A, XM_047425232.1:c.1098G>A, XM_047425234.1:c.1182G>A, XM_047425236.1:c.1182G>A, XM_047425237.1:c.1098G>A, XM_047425238.1:c.1098G>A, XM_047425239.1:c.1098G>A, XM_047425240.1:c.1182G>A, XM_047425242.1:c.1098G>A, XM_047425246.1:c.909G>A, XM_047425244.1:c.1182G>A, XM_047425245.1:c.1098G>A

      3.

      rs1488751953 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:114571299 (GRCh38)
        10:116331058 (GRCh37)
        Canonical SPDI:
        NC_000010.11:114571298:C:T
        Gene:
        ABLIM1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.114571299C>T, NC_000010.10:g.116331058C>T, NG_029872.2:g.255345G>A, NM_002313.7:c.671G>A, NM_002313.6:c.671G>A, NM_002313.5:c.671G>A, NM_001322884.3:c.440G>A, NM_001322884.2:c.440G>A, NM_001322884.1:c.440G>A, NM_001322885.3:c.440G>A, NM_001322885.2:c.440G>A, NM_001322885.1:c.440G>A, NM_001322886.3:c.440G>A, NM_001322886.2:c.440G>A, NM_001322886.1:c.440G>A, NM_001322882.2:c.491G>A, NM_001322882.1:c.491G>A, NM_001003407.2:c.491G>A, NM_001003407.1:c.491G>A, NM_001322883.2:c.491G>A, NM_001322883.1:c.491G>A, NM_001352442.2:c.215G>A, NM_001352442.1:c.215G>A, NM_001322887.2:c.491G>A, NM_001322887.1:c.491G>A, NM_001352440.1:c.443G>A, NM_001352441.1:c.443G>A, XM_006717837.3:c.491G>A, XM_006717837.2:c.491G>A, XM_006717837.1:c.491G>A, XM_011539802.3:c.461G>A, XM_011539802.2:c.461G>A, XM_011539802.1:c.443G>A, XM_011539801.3:c.215G>A, XM_011539801.2:c.215G>A, XM_011539801.1:c.530G>A, NM_006719.3:c.215G>A, XM_024448014.2:c.443G>A, XM_024448014.1:c.443G>A, XM_024448016.2:c.443G>A, XM_024448016.1:c.443G>A, XM_024448018.2:c.443G>A, XM_024448018.1:c.443G>A, XM_024448010.2:c.632G>A, XM_024448010.1:c.215G>A, XM_017016245.2:c.440G>A, XM_017016245.1:c.440G>A, XM_017016256.2:c.443G>A, XM_017016256.1:c.443G>A, XM_017016250.2:c.440G>A, XM_017016250.1:c.440G>A, XM_024448011.2:c.632G>A, XM_024448011.1:c.215G>A, XM_017016247.2:c.632G>A, XM_017016247.1:c.215G>A, XM_017016255.2:c.440G>A, XM_017016255.1:c.440G>A, XM_024448013.2:c.215G>A, XM_024448013.1:c.215G>A, NM_006719.2:c.215G>A, XM_047425233.1:c.491G>A, XM_047425243.1:c.491G>A, NM_001003408.1:c.491G>A, XM_047425229.1:c.632G>A, XM_047425231.1:c.632G>A, XM_047425232.1:c.632G>A, XM_047425234.1:c.632G>A, XM_047425236.1:c.632G>A, XM_047425237.1:c.632G>A, XM_047425238.1:c.632G>A, XM_047425239.1:c.632G>A, XM_047425240.1:c.632G>A, XM_047425242.1:c.632G>A, XM_047425246.1:c.443G>A, XM_047425244.1:c.632G>A, XM_047425245.1:c.632G>A, NP_002304.3:p.Ser224Asn, NP_001309813.1:p.Ser147Asn, NP_001309814.1:p.Ser147Asn, NP_001309815.1:p.Ser147Asn, NP_001309811.1:p.Ser164Asn, NP_001003407.1:p.Ser164Asn, NP_001309812.1:p.Ser164Asn, NP_001339371.1:p.Ser72Asn, NP_001309816.1:p.Ser164Asn, NP_001339369.1:p.Ser148Asn, NP_001339370.1:p.Ser148Asn, XP_006717900.1:p.Ser164Asn, XP_011538104.2:p.Ser154Asn, XP_011538103.2:p.Ser72Asn, XP_024303782.1:p.Ser148Asn, XP_024303784.1:p.Ser148Asn, XP_024303786.1:p.Ser148Asn, XP_024303778.2:p.Ser211Asn, XP_016871734.1:p.Ser147Asn, XP_016871745.1:p.Ser148Asn, XP_016871739.1:p.Ser147Asn, XP_024303779.2:p.Ser211Asn, XP_016871736.2:p.Ser211Asn, XP_016871744.1:p.Ser147Asn, XP_024303781.1:p.Ser72Asn, XP_047281189.1:p.Ser164Asn, XP_047281199.1:p.Ser164Asn, XP_047281185.1:p.Ser211Asn, XP_047281187.1:p.Ser211Asn, XP_047281188.1:p.Ser211Asn, XP_047281190.1:p.Ser211Asn, XP_047281192.1:p.Ser211Asn, XP_047281193.1:p.Ser211Asn, XP_047281194.1:p.Ser211Asn, XP_047281195.1:p.Ser211Asn, XP_047281196.1:p.Ser211Asn, XP_047281198.1:p.Ser211Asn, XP_047281202.1:p.Ser148Asn, XP_047281200.1:p.Ser211Asn, XP_047281201.1:p.Ser211Asn

        4.

        rs1486578935 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:114436302 (GRCh38)
          10:116196061 (GRCh37)
          Canonical SPDI:
          NC_000010.11:114436301:A:G
          Gene:
          ABLIM1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.114436302A>G, NC_000010.10:g.116196061A>G, NG_029872.2:g.390342T>C, NM_002313.7:c.2295T>C, NM_002313.6:c.2295T>C, NM_002313.5:c.2295T>C, NM_006720.4:c.1326T>C, NM_006720.3:c.1326T>C, NM_001322884.3:c.1965T>C, NM_001322884.2:c.1965T>C, NM_001322884.1:c.1965T>C, NM_001322885.3:c.1959T>C, NM_001322885.2:c.1959T>C, NM_001322885.1:c.1959T>C, NM_001322886.3:c.1923T>C, NM_001322886.2:c.1923T>C, NM_001322886.1:c.1923T>C, NM_001322882.2:c.2205T>C, NM_001322882.1:c.2205T>C, NM_001003407.2:c.2115T>C, NM_001003407.1:c.2115T>C, NM_001322883.2:c.2010T>C, NM_001322883.1:c.2010T>C, NM_001352442.2:c.1734T>C, NM_001352442.1:c.1734T>C, NM_001322887.2:c.1869T>C, NM_001322887.1:c.1869T>C, NM_001352443.2:c.1353T>C, NM_001352443.1:c.1353T>C, NM_001322888.2:c.1326T>C, NM_001322888.1:c.1326T>C, NM_001322889.2:c.1290T>C, NM_001322889.1:c.1290T>C, NM_001322891.2:c.1248T>C, NM_001322891.1:c.1248T>C, NM_001322893.2:c.1242T>C, NM_001322893.1:c.1242T>C, NM_001322890.2:c.1248T>C, NM_001322890.1:c.1248T>C, NM_001322892.2:c.1242T>C, NM_001322892.1:c.1242T>C, NM_001322894.2:c.1206T>C, NM_001322894.1:c.1206T>C, NM_001322895.2:c.1206T>C, NM_001322895.1:c.1206T>C, NM_001322896.2:c.1164T>C, NM_001322896.1:c.1164T>C, NM_001322897.2:c.1128T>C, NM_001322897.1:c.1128T>C, NM_001322899.2:c.1101T>C, NM_001322899.1:c.1101T>C, NM_001322898.2:c.1101T>C, NM_001322898.1:c.1101T>C, NM_001322900.2:c.1023T>C, NM_001322900.1:c.1023T>C, NM_001352440.1:c.1926T>C, NM_001352441.1:c.1821T>C, XM_006717846.4:c.1557T>C, XM_006717846.3:c.1557T>C, XM_006717846.2:c.1557T>C, XM_006717846.1:c.1557T>C, XM_006717837.3:c.2325T>C, XM_006717837.2:c.2325T>C, XM_006717837.1:c.2325T>C, XM_011539802.3:c.2295T>C, XM_011539802.2:c.2295T>C, XM_011539802.1:c.2277T>C, XM_011539801.3:c.2049T>C, XM_011539801.2:c.2049T>C, XM_011539801.1:c.2364T>C, NM_006719.3:c.1839T>C, XM_024448014.2:c.2277T>C, XM_024448014.1:c.2277T>C, XM_024448016.2:c.2193T>C, XM_024448016.1:c.2193T>C, XM_024448018.2:c.2052T>C, XM_024448018.1:c.2052T>C, XM_024448010.2:c.2460T>C, XM_024448010.1:c.2043T>C, XM_017016245.2:c.2274T>C, XM_017016245.1:c.2274T>C, XM_017016256.2:c.1968T>C, XM_017016256.1:c.1968T>C, XM_017016250.2:c.2190T>C, XM_017016250.1:c.2190T>C, XM_024448011.2:c.2340T>C, XM_024448011.1:c.1923T>C, XM_017016247.2:c.2235T>C, XM_017016247.1:c.1818T>C, XM_017016255.2:c.2070T>C, XM_017016255.1:c.2070T>C, XM_024448013.2:c.1965T>C, XM_024448013.1:c.1965T>C, NM_006719.2:c.1839T>C, XM_047425233.1:c.2241T>C, XM_047425243.1:c.2016T>C, NM_001003408.1:c.2199T>C, XM_047425229.1:c.2346T>C, XM_047425231.1:c.2262T>C, XM_047425232.1:c.2256T>C, XM_047425234.1:c.2241T>C, XM_047425236.1:c.2199T>C, XM_047425237.1:c.2157T>C, XM_047425238.1:c.2151T>C, XM_047425239.1:c.2115T>C, XM_047425240.1:c.2094T>C, XM_047425242.1:c.2010T>C

          5.

          rs1485913404 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            10:114547681 (GRCh38)
            10:116307440 (GRCh37)
            Canonical SPDI:
            NC_000010.11:114547680:C:G
            Gene:
            ABLIM1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000011/3 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            NC_000010.11:g.114547681C>G, NC_000010.10:g.116307440C>G, NG_029872.2:g.278963G>C, NM_002313.7:c.769G>C, NM_002313.6:c.769G>C, NM_002313.5:c.769G>C, NM_001322884.3:c.538G>C, NM_001322884.2:c.538G>C, NM_001322884.1:c.538G>C, NM_001322885.3:c.538G>C, NM_001322885.2:c.538G>C, NM_001322885.1:c.538G>C, NM_001322886.3:c.538G>C, NM_001322886.2:c.538G>C, NM_001322886.1:c.538G>C, NM_001322882.2:c.589G>C, NM_001322882.1:c.589G>C, NM_001003407.2:c.589G>C, NM_001003407.1:c.589G>C, NM_001322883.2:c.589G>C, NM_001322883.1:c.589G>C, NM_001352442.2:c.313G>C, NM_001352442.1:c.313G>C, NM_001322887.2:c.589G>C, NM_001322887.1:c.589G>C, NM_001352440.1:c.541G>C, NM_001352441.1:c.541G>C, XM_006717837.3:c.589G>C, XM_006717837.2:c.589G>C, XM_006717837.1:c.589G>C, XM_011539802.3:c.559G>C, XM_011539802.2:c.559G>C, XM_011539802.1:c.541G>C, XM_011539801.3:c.313G>C, XM_011539801.2:c.313G>C, XM_011539801.1:c.628G>C, NM_006719.3:c.313G>C, XM_024448014.2:c.541G>C, XM_024448014.1:c.541G>C, XM_024448016.2:c.541G>C, XM_024448016.1:c.541G>C, XM_024448018.2:c.541G>C, XM_024448018.1:c.541G>C, XM_024448010.2:c.730G>C, XM_024448010.1:c.313G>C, XM_017016245.2:c.538G>C, XM_017016245.1:c.538G>C, XM_017016256.2:c.541G>C, XM_017016256.1:c.541G>C, XM_017016250.2:c.538G>C, XM_017016250.1:c.538G>C, XM_024448011.2:c.730G>C, XM_024448011.1:c.313G>C, XM_017016247.2:c.730G>C, XM_017016247.1:c.313G>C, XM_017016255.2:c.538G>C, XM_017016255.1:c.538G>C, XM_024448013.2:c.313G>C, XM_024448013.1:c.313G>C, NM_006719.2:c.313G>C, XM_047425233.1:c.589G>C, XM_047425243.1:c.589G>C, NM_001003408.1:c.589G>C, XM_047425229.1:c.730G>C, XM_047425231.1:c.730G>C, XM_047425232.1:c.730G>C, XM_047425234.1:c.730G>C, XM_047425236.1:c.730G>C, XM_047425237.1:c.730G>C, XM_047425238.1:c.730G>C, XM_047425239.1:c.730G>C, XM_047425240.1:c.730G>C, XM_047425242.1:c.730G>C, XM_047425246.1:c.541G>C, XM_047425244.1:c.730G>C, XM_047425245.1:c.730G>C, NP_002304.3:p.Gly257Arg, NP_001309813.1:p.Gly180Arg, NP_001309814.1:p.Gly180Arg, NP_001309815.1:p.Gly180Arg, NP_001309811.1:p.Gly197Arg, NP_001003407.1:p.Gly197Arg, NP_001309812.1:p.Gly197Arg, NP_001339371.1:p.Gly105Arg, NP_001309816.1:p.Gly197Arg, NP_001339369.1:p.Gly181Arg, NP_001339370.1:p.Gly181Arg, XP_006717900.1:p.Gly197Arg, XP_011538104.2:p.Gly187Arg, XP_011538103.2:p.Gly105Arg, XP_024303782.1:p.Gly181Arg, XP_024303784.1:p.Gly181Arg, XP_024303786.1:p.Gly181Arg, XP_024303778.2:p.Gly244Arg, XP_016871734.1:p.Gly180Arg, XP_016871745.1:p.Gly181Arg, XP_016871739.1:p.Gly180Arg, XP_024303779.2:p.Gly244Arg, XP_016871736.2:p.Gly244Arg, XP_016871744.1:p.Gly180Arg, XP_024303781.1:p.Gly105Arg, XP_047281189.1:p.Gly197Arg, XP_047281199.1:p.Gly197Arg, XP_047281185.1:p.Gly244Arg, XP_047281187.1:p.Gly244Arg, XP_047281188.1:p.Gly244Arg, XP_047281190.1:p.Gly244Arg, XP_047281192.1:p.Gly244Arg, XP_047281193.1:p.Gly244Arg, XP_047281194.1:p.Gly244Arg, XP_047281195.1:p.Gly244Arg, XP_047281196.1:p.Gly244Arg, XP_047281198.1:p.Gly244Arg, XP_047281202.1:p.Gly181Arg, XP_047281200.1:p.Gly244Arg, XP_047281201.1:p.Gly244Arg

            6.

            rs1482649589 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              10:114441055 (GRCh38)
              10:116200814 (GRCh37)
              Canonical SPDI:
              NC_000010.11:114441054:T:G
              Gene:
              ABLIM1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.114441055T>G, NC_000010.10:g.116200814T>G, NG_029872.2:g.385589A>C, NM_002313.7:c.2021A>C, NM_002313.6:c.2021A>C, NM_002313.5:c.2021A>C, NM_006720.4:c.1052A>C, NM_006720.3:c.1052A>C, NM_001322884.3:c.1691A>C, NM_001322884.2:c.1691A>C, NM_001322884.1:c.1691A>C, NM_001322885.3:c.1685A>C, NM_001322885.2:c.1685A>C, NM_001322885.1:c.1685A>C, NM_001322886.3:c.1649A>C, NM_001322886.2:c.1649A>C, NM_001322886.1:c.1649A>C, NM_001322882.2:c.1931A>C, NM_001322882.1:c.1931A>C, NM_001003407.2:c.1841A>C, NM_001003407.1:c.1841A>C, NM_001322883.2:c.1736A>C, NM_001322883.1:c.1736A>C, NM_001352442.2:c.1460A>C, NM_001352442.1:c.1460A>C, NM_001322887.2:c.1595A>C, NM_001322887.1:c.1595A>C, NM_001352443.2:c.1079A>C, NM_001352443.1:c.1079A>C, NM_001322888.2:c.1052A>C, NM_001322888.1:c.1052A>C, NM_001322889.2:c.1016A>C, NM_001322889.1:c.1016A>C, NM_001322891.2:c.974A>C, NM_001322891.1:c.974A>C, NM_001322893.2:c.968A>C, NM_001322893.1:c.968A>C, NM_001322890.2:c.974A>C, NM_001322890.1:c.974A>C, NM_001322892.2:c.968A>C, NM_001322892.1:c.968A>C, NM_001322894.2:c.932A>C, NM_001322894.1:c.932A>C, NM_001322895.2:c.932A>C, NM_001322895.1:c.932A>C, NM_001322896.2:c.890A>C, NM_001322896.1:c.890A>C, NM_001322897.2:c.854A>C, NM_001322897.1:c.854A>C, NM_001322899.2:c.827A>C, NM_001322899.1:c.827A>C, NM_001322898.2:c.827A>C, NM_001322898.1:c.827A>C, NM_001322900.2:c.749A>C, NM_001322900.1:c.749A>C, NM_001352440.1:c.1652A>C, NM_001352441.1:c.1547A>C, XM_006717846.4:c.1283A>C, XM_006717846.3:c.1283A>C, XM_006717846.2:c.1283A>C, XM_006717846.1:c.1283A>C, XM_006717837.3:c.2051A>C, XM_006717837.2:c.2051A>C, XM_006717837.1:c.2051A>C, XM_011539802.3:c.2021A>C, XM_011539802.2:c.2021A>C, XM_011539802.1:c.2003A>C, XM_011539801.3:c.1775A>C, XM_011539801.2:c.1775A>C, XM_011539801.1:c.2090A>C, NM_006719.3:c.1565A>C, XM_024448014.2:c.2003A>C, XM_024448014.1:c.2003A>C, XM_024448016.2:c.1919A>C, XM_024448016.1:c.1919A>C, XM_024448018.2:c.1778A>C, XM_024448018.1:c.1778A>C, XM_024448010.2:c.2186A>C, XM_024448010.1:c.1769A>C, XM_017016245.2:c.2000A>C, XM_017016245.1:c.2000A>C, XM_017016256.2:c.1694A>C, XM_017016256.1:c.1694A>C, XM_017016250.2:c.1916A>C, XM_017016250.1:c.1916A>C, XM_024448011.2:c.2066A>C, XM_024448011.1:c.1649A>C, XM_017016247.2:c.1961A>C, XM_017016247.1:c.1544A>C, XM_017016255.2:c.1796A>C, XM_017016255.1:c.1796A>C, XM_024448013.2:c.1691A>C, XM_024448013.1:c.1691A>C, NM_006719.2:c.1565A>C, XM_047425233.1:c.1967A>C, XM_047425243.1:c.1742A>C, NM_001003408.1:c.1925A>C, XM_047425229.1:c.2072A>C, XM_047425231.1:c.1988A>C, XM_047425232.1:c.1982A>C, XM_047425234.1:c.1967A>C, XM_047425236.1:c.1925A>C, XM_047425237.1:c.1883A>C, XM_047425238.1:c.1877A>C, XM_047425239.1:c.1841A>C, XM_047425240.1:c.1820A>C, XM_047425242.1:c.1736A>C, NP_002304.3:p.Gln674Pro, NP_006711.3:p.Gln351Pro, NP_001309813.1:p.Gln564Pro, NP_001309814.1:p.Gln562Pro, NP_001309815.1:p.Gln550Pro, NP_001309811.1:p.Gln644Pro, NP_001003407.1:p.Gln614Pro, NP_001309812.1:p.Gln579Pro, NP_001339371.1:p.Gln487Pro, NP_001309816.1:p.Gln532Pro, NP_001339372.1:p.Gln360Pro, NP_001309817.1:p.Gln351Pro, NP_001309818.1:p.Gln339Pro, NP_001309820.1:p.Gln325Pro, NP_001309822.1:p.Gln323Pro, NP_001309819.1:p.Gln325Pro, NP_001309821.1:p.Gln323Pro, NP_001309823.1:p.Gln311Pro, NP_001309824.1:p.Gln311Pro, NP_001309825.1:p.Gln297Pro, NP_001309826.1:p.Gln285Pro, NP_001309828.1:p.Gln276Pro, NP_001309827.1:p.Gln276Pro, NP_001309829.1:p.Gln250Pro, NP_001339369.1:p.Gln551Pro, NP_001339370.1:p.Gln516Pro, XP_006717909.1:p.Gln428Pro, XP_006717900.1:p.Gln684Pro, XP_011538104.2:p.Gln674Pro, XP_011538103.2:p.Gln592Pro, XP_024303782.1:p.Gln668Pro, XP_024303784.1:p.Gln640Pro, XP_024303786.1:p.Gln593Pro, XP_024303778.2:p.Gln729Pro, XP_016871734.1:p.Gln667Pro, XP_016871745.1:p.Gln565Pro, XP_016871739.1:p.Gln639Pro, XP_024303779.2:p.Gln689Pro, XP_016871736.2:p.Gln654Pro, XP_016871744.1:p.Gln599Pro, XP_024303781.1:p.Gln564Pro, XP_047281189.1:p.Gln656Pro, XP_047281199.1:p.Gln581Pro, XP_047281185.1:p.Gln691Pro, XP_047281187.1:p.Gln663Pro, XP_047281188.1:p.Gln661Pro, XP_047281190.1:p.Gln656Pro, XP_047281192.1:p.Gln642Pro, XP_047281193.1:p.Gln628Pro, XP_047281194.1:p.Gln626Pro, XP_047281195.1:p.Gln614Pro, XP_047281196.1:p.Gln607Pro, XP_047281198.1:p.Gln579Pro

              7.

              rs1481398168 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:114547666 (GRCh38)
                10:116307425 (GRCh37)
                Canonical SPDI:
                NC_000010.11:114547665:C:T
                Gene:
                ABLIM1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.114547666C>T, NC_000010.10:g.116307425C>T, NG_029872.2:g.278978G>A, NM_002313.7:c.784G>A, NM_002313.6:c.784G>A, NM_002313.5:c.784G>A, NM_001322884.3:c.553G>A, NM_001322884.2:c.553G>A, NM_001322884.1:c.553G>A, NM_001322885.3:c.553G>A, NM_001322885.2:c.553G>A, NM_001322885.1:c.553G>A, NM_001322886.3:c.553G>A, NM_001322886.2:c.553G>A, NM_001322886.1:c.553G>A, NM_001322882.2:c.604G>A, NM_001322882.1:c.604G>A, NM_001003407.2:c.604G>A, NM_001003407.1:c.604G>A, NM_001322883.2:c.604G>A, NM_001322883.1:c.604G>A, NM_001352442.2:c.328G>A, NM_001352442.1:c.328G>A, NM_001322887.2:c.604G>A, NM_001322887.1:c.604G>A, NM_001352440.1:c.556G>A, NM_001352441.1:c.556G>A, XM_006717837.3:c.604G>A, XM_006717837.2:c.604G>A, XM_006717837.1:c.604G>A, XM_011539802.3:c.574G>A, XM_011539802.2:c.574G>A, XM_011539802.1:c.556G>A, XM_011539801.3:c.328G>A, XM_011539801.2:c.328G>A, XM_011539801.1:c.643G>A, NM_006719.3:c.328G>A, XM_024448014.2:c.556G>A, XM_024448014.1:c.556G>A, XM_024448016.2:c.556G>A, XM_024448016.1:c.556G>A, XM_024448018.2:c.556G>A, XM_024448018.1:c.556G>A, XM_024448010.2:c.745G>A, XM_024448010.1:c.328G>A, XM_017016245.2:c.553G>A, XM_017016245.1:c.553G>A, XM_017016256.2:c.556G>A, XM_017016256.1:c.556G>A, XM_017016250.2:c.553G>A, XM_017016250.1:c.553G>A, XM_024448011.2:c.745G>A, XM_024448011.1:c.328G>A, XM_017016247.2:c.745G>A, XM_017016247.1:c.328G>A, XM_017016255.2:c.553G>A, XM_017016255.1:c.553G>A, XM_024448013.2:c.328G>A, XM_024448013.1:c.328G>A, NM_006719.2:c.328G>A, XM_047425233.1:c.604G>A, XM_047425243.1:c.604G>A, NM_001003408.1:c.604G>A, XM_047425229.1:c.745G>A, XM_047425231.1:c.745G>A, XM_047425232.1:c.745G>A, XM_047425234.1:c.745G>A, XM_047425236.1:c.745G>A, XM_047425237.1:c.745G>A, XM_047425238.1:c.745G>A, XM_047425239.1:c.745G>A, XM_047425240.1:c.745G>A, XM_047425242.1:c.745G>A, XM_047425246.1:c.556G>A, XM_047425244.1:c.745G>A, XM_047425245.1:c.745G>A, NP_002304.3:p.Gly262Arg, NP_001309813.1:p.Gly185Arg, NP_001309814.1:p.Gly185Arg, NP_001309815.1:p.Gly185Arg, NP_001309811.1:p.Gly202Arg, NP_001003407.1:p.Gly202Arg, NP_001309812.1:p.Gly202Arg, NP_001339371.1:p.Gly110Arg, NP_001309816.1:p.Gly202Arg, NP_001339369.1:p.Gly186Arg, NP_001339370.1:p.Gly186Arg, XP_006717900.1:p.Gly202Arg, XP_011538104.2:p.Gly192Arg, XP_011538103.2:p.Gly110Arg, XP_024303782.1:p.Gly186Arg, XP_024303784.1:p.Gly186Arg, XP_024303786.1:p.Gly186Arg, XP_024303778.2:p.Gly249Arg, XP_016871734.1:p.Gly185Arg, XP_016871745.1:p.Gly186Arg, XP_016871739.1:p.Gly185Arg, XP_024303779.2:p.Gly249Arg, XP_016871736.2:p.Gly249Arg, XP_016871744.1:p.Gly185Arg, XP_024303781.1:p.Gly110Arg, XP_047281189.1:p.Gly202Arg, XP_047281199.1:p.Gly202Arg, XP_047281185.1:p.Gly249Arg, XP_047281187.1:p.Gly249Arg, XP_047281188.1:p.Gly249Arg, XP_047281190.1:p.Gly249Arg, XP_047281192.1:p.Gly249Arg, XP_047281193.1:p.Gly249Arg, XP_047281194.1:p.Gly249Arg, XP_047281195.1:p.Gly249Arg, XP_047281196.1:p.Gly249Arg, XP_047281198.1:p.Gly249Arg, XP_047281202.1:p.Gly186Arg, XP_047281200.1:p.Gly249Arg, XP_047281201.1:p.Gly249Arg

                8.

                rs1480923965 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:114465795 (GRCh38)
                  10:116225554 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:114465794:A:G
                  Gene:
                  ABLIM1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.114465795A>G, NC_000010.10:g.116225554A>G, NG_029872.2:g.360849T>C, NM_002313.7:c.1344T>C, NM_002313.6:c.1344T>C, NM_002313.5:c.1344T>C, NM_006720.4:c.480T>C, NM_006720.3:c.480T>C, NM_001322884.3:c.1113T>C, NM_001322884.2:c.1113T>C, NM_001322884.1:c.1113T>C, NM_001322885.3:c.1113T>C, NM_001322885.2:c.1113T>C, NM_001322885.1:c.1113T>C, NM_001322886.3:c.1113T>C, NM_001322886.2:c.1113T>C, NM_001322886.1:c.1113T>C, NM_001322882.2:c.1248T>C, NM_001322882.1:c.1248T>C, NM_001003407.2:c.1164T>C, NM_001003407.1:c.1164T>C, NM_001322883.2:c.1164T>C, NM_001322883.1:c.1164T>C, NM_001352442.2:c.888T>C, NM_001352442.1:c.888T>C, NM_001322887.2:c.1164T>C, NM_001322887.1:c.1164T>C, NM_001352443.2:c.396T>C, NM_001352443.1:c.396T>C, NM_001322888.2:c.396T>C, NM_001322888.1:c.396T>C, NM_001322889.2:c.480T>C, NM_001322889.1:c.480T>C, NM_001322891.2:c.396T>C, NM_001322891.1:c.396T>C, NM_001322893.2:c.396T>C, NM_001322893.1:c.396T>C, NM_001322890.2:c.396T>C, NM_001322890.1:c.396T>C, NM_001322892.2:c.396T>C, NM_001322892.1:c.396T>C, NM_001322894.2:c.396T>C, NM_001322894.1:c.396T>C, NM_001322895.2:c.396T>C, NM_001322895.1:c.396T>C, NM_001322896.2:c.318T>C, NM_001322896.1:c.318T>C, NM_001322897.2:c.318T>C, NM_001322897.1:c.318T>C, NM_001322899.2:c.396T>C, NM_001322899.1:c.396T>C, NM_001322898.2:c.396T>C, NM_001322898.1:c.396T>C, NM_001322900.2:c.318T>C, NM_001322900.1:c.318T>C, NM_001352440.1:c.1116T>C, NM_001352441.1:c.1116T>C, XM_006717846.4:c.480T>C, XM_006717846.3:c.480T>C, XM_006717846.2:c.480T>C, XM_006717846.1:c.480T>C, XM_006717837.3:c.1248T>C, XM_006717837.2:c.1248T>C, XM_006717837.1:c.1248T>C, XM_011539802.3:c.1218T>C, XM_011539802.2:c.1218T>C, XM_011539802.1:c.1200T>C, XM_011539801.3:c.972T>C, XM_011539801.2:c.972T>C, XM_011539801.1:c.1287T>C, NM_006719.3:c.888T>C, XM_024448014.2:c.1200T>C, XM_024448014.1:c.1200T>C, XM_024448016.2:c.1116T>C, XM_024448016.1:c.1116T>C, XM_024448018.2:c.1200T>C, XM_024448018.1:c.1200T>C, XM_024448010.2:c.1389T>C, XM_024448010.1:c.972T>C, XM_017016245.2:c.1197T>C, XM_017016245.1:c.1197T>C, XM_017016256.2:c.1116T>C, XM_017016256.1:c.1116T>C, XM_017016250.2:c.1113T>C, XM_017016250.1:c.1113T>C, XM_024448011.2:c.1389T>C, XM_024448011.1:c.972T>C, XM_017016247.2:c.1389T>C, XM_017016247.1:c.972T>C, XM_017016255.2:c.1113T>C, XM_017016255.1:c.1113T>C, XM_024448013.2:c.888T>C, XM_024448013.1:c.888T>C, NM_006719.2:c.888T>C, XM_047425233.1:c.1164T>C, XM_047425243.1:c.1164T>C, NM_001003408.1:c.1248T>C, XM_047425229.1:c.1389T>C, XM_047425231.1:c.1305T>C, XM_047425232.1:c.1305T>C, XM_047425234.1:c.1389T>C, XM_047425236.1:c.1389T>C, XM_047425237.1:c.1305T>C, XM_047425238.1:c.1305T>C, XM_047425239.1:c.1305T>C, XM_047425240.1:c.1389T>C, XM_047425242.1:c.1305T>C, XM_047425246.1:c.1116T>C, XM_047425244.1:c.1389T>C, XM_047425245.1:c.1305T>C

                  9.

                  rs1480780926 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    10:114451636 (GRCh38)
                    10:116211395 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:114451635:A:T
                    Gene:
                    ABLIM1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.114451636A>T, NC_000010.10:g.116211395A>T, NG_029872.2:g.375008T>A, NM_002313.7:c.1582T>A, NM_002313.6:c.1582T>A, NM_002313.5:c.1582T>A, NM_006720.4:c.613T>A, NM_006720.3:c.613T>A, NM_001322884.3:c.1246T>A, NM_001322884.2:c.1246T>A, NM_001322884.1:c.1246T>A, NM_001322885.3:c.1246T>A, NM_001322885.2:c.1246T>A, NM_001322885.1:c.1246T>A, NM_001322886.3:c.1351T>A, NM_001322886.2:c.1351T>A, NM_001322886.1:c.1351T>A, NM_001322882.2:c.1486T>A, NM_001322882.1:c.1486T>A, NM_001003407.2:c.1402T>A, NM_001003407.1:c.1402T>A, NM_001322883.2:c.1297T>A, NM_001322883.1:c.1297T>A, NM_001352442.2:c.1021T>A, NM_001352442.1:c.1021T>A, NM_001322887.2:c.1297T>A, NM_001322887.1:c.1297T>A, NM_001352443.2:c.634T>A, NM_001352443.1:c.634T>A, NM_001322888.2:c.754T>A, NM_001322888.1:c.754T>A, NM_001322889.2:c.718T>A, NM_001322889.1:c.718T>A, NM_001322891.2:c.529T>A, NM_001322891.1:c.529T>A, NM_001322893.2:c.529T>A, NM_001322893.1:c.529T>A, NM_001322890.2:c.529T>A, NM_001322890.1:c.529T>A, NM_001322892.2:c.529T>A, NM_001322892.1:c.529T>A, NM_001322894.2:c.634T>A, NM_001322894.1:c.634T>A, NM_001322895.2:c.634T>A, NM_001322895.1:c.634T>A, NM_001322896.2:c.451T>A, NM_001322896.1:c.451T>A, NM_001322897.2:c.556T>A, NM_001322897.1:c.556T>A, NM_001322899.2:c.529T>A, NM_001322899.1:c.529T>A, NM_001322898.2:c.529T>A, NM_001322898.1:c.529T>A, NM_001322900.2:c.451T>A, NM_001322900.1:c.451T>A, NM_001352440.1:c.1354T>A, NM_001352441.1:c.1249T>A, XM_006717846.4:c.838T>A, XM_006717846.3:c.838T>A, XM_006717846.2:c.838T>A, XM_006717846.1:c.838T>A, XM_006717837.3:c.1606T>A, XM_006717837.2:c.1606T>A, XM_006717837.1:c.1606T>A, XM_011539802.3:c.1576T>A, XM_011539802.2:c.1576T>A, XM_011539802.1:c.1558T>A, XM_011539801.3:c.1330T>A, XM_011539801.2:c.1330T>A, XM_011539801.1:c.1645T>A, NM_006719.3:c.1126T>A, XM_024448014.2:c.1558T>A, XM_024448014.1:c.1558T>A, XM_024448016.2:c.1474T>A, XM_024448016.1:c.1474T>A, XM_024448018.2:c.1333T>A, XM_024448018.1:c.1333T>A, XM_024448010.2:c.1747T>A, XM_024448010.1:c.1330T>A, XM_017016245.2:c.1555T>A, XM_017016245.1:c.1555T>A, XM_017016256.2:c.1249T>A, XM_017016256.1:c.1249T>A, XM_017016250.2:c.1471T>A, XM_017016250.1:c.1471T>A, XM_024448011.2:c.1627T>A, XM_024448011.1:c.1210T>A, XM_017016247.2:c.1522T>A, XM_017016247.1:c.1105T>A, XM_017016255.2:c.1351T>A, XM_017016255.1:c.1351T>A, XM_024448013.2:c.1246T>A, XM_024448013.1:c.1246T>A, NM_006719.2:c.1126T>A, XM_047425233.1:c.1522T>A, XM_047425243.1:c.1297T>A, NM_001003408.1:c.1486T>A, XM_047425229.1:c.1627T>A, XM_047425231.1:c.1543T>A, XM_047425232.1:c.1543T>A, XM_047425234.1:c.1522T>A, XM_047425236.1:c.1627T>A, XM_047425237.1:c.1438T>A, XM_047425238.1:c.1438T>A, XM_047425239.1:c.1543T>A, XM_047425240.1:c.1522T>A, XM_047425242.1:c.1438T>A, XM_047425246.1:c.1249T>A, XM_047425244.1:c.1522T>A, XM_047425245.1:c.1438T>A, NP_002304.3:p.Tyr528Asn, NP_006711.3:p.Tyr205Asn, NP_001309813.1:p.Tyr416Asn, NP_001309814.1:p.Tyr416Asn, NP_001309815.1:p.Tyr451Asn, NP_001309811.1:p.Tyr496Asn, NP_001003407.1:p.Tyr468Asn, NP_001309812.1:p.Tyr433Asn, NP_001339371.1:p.Tyr341Asn, NP_001309816.1:p.Tyr433Asn, NP_001339372.1:p.Tyr212Asn, NP_001309817.1:p.Tyr252Asn, NP_001309818.1:p.Tyr240Asn, NP_001309820.1:p.Tyr177Asn, NP_001309822.1:p.Tyr177Asn, NP_001309819.1:p.Tyr177Asn, NP_001309821.1:p.Tyr177Asn, NP_001309823.1:p.Tyr212Asn, NP_001309824.1:p.Tyr212Asn, NP_001309825.1:p.Tyr151Asn, NP_001309826.1:p.Tyr186Asn, NP_001309828.1:p.Tyr177Asn, NP_001309827.1:p.Tyr177Asn, NP_001309829.1:p.Tyr151Asn, NP_001339369.1:p.Tyr452Asn, NP_001339370.1:p.Tyr417Asn, XP_006717909.1:p.Tyr280Asn, XP_006717900.1:p.Tyr536Asn, XP_011538104.2:p.Tyr526Asn, XP_011538103.2:p.Tyr444Asn, XP_024303782.1:p.Tyr520Asn, XP_024303784.1:p.Tyr492Asn, XP_024303786.1:p.Tyr445Asn, XP_024303778.2:p.Tyr583Asn, XP_016871734.1:p.Tyr519Asn, XP_016871745.1:p.Tyr417Asn, XP_016871739.1:p.Tyr491Asn, XP_024303779.2:p.Tyr543Asn, XP_016871736.2:p.Tyr508Asn, XP_016871744.1:p.Tyr451Asn, XP_024303781.1:p.Tyr416Asn, XP_047281189.1:p.Tyr508Asn, XP_047281199.1:p.Tyr433Asn, XP_047281185.1:p.Tyr543Asn, XP_047281187.1:p.Tyr515Asn, XP_047281188.1:p.Tyr515Asn, XP_047281190.1:p.Tyr508Asn, XP_047281192.1:p.Tyr543Asn, XP_047281193.1:p.Tyr480Asn, XP_047281194.1:p.Tyr480Asn, XP_047281195.1:p.Tyr515Asn, XP_047281196.1:p.Tyr508Asn, XP_047281198.1:p.Tyr480Asn, XP_047281202.1:p.Tyr417Asn, XP_047281200.1:p.Tyr508Asn, XP_047281201.1:p.Tyr480Asn

                    10.

                    rs1480217205 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:114465737 (GRCh38)
                      10:116225496 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:114465736:G:T
                      Gene:
                      ABLIM1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.114465737G>T, NC_000010.10:g.116225496G>T, NG_029872.2:g.360907C>A, NM_002313.7:c.1402C>A, NM_002313.6:c.1402C>A, NM_002313.5:c.1402C>A, NM_006720.4:c.538C>A, NM_006720.3:c.538C>A, NM_001322884.3:c.1171C>A, NM_001322884.2:c.1171C>A, NM_001322884.1:c.1171C>A, NM_001322885.3:c.1171C>A, NM_001322885.2:c.1171C>A, NM_001322885.1:c.1171C>A, NM_001322886.3:c.1171C>A, NM_001322886.2:c.1171C>A, NM_001322886.1:c.1171C>A, NM_001322882.2:c.1306C>A, NM_001322882.1:c.1306C>A, NM_001003407.2:c.1222C>A, NM_001003407.1:c.1222C>A, NM_001322883.2:c.1222C>A, NM_001322883.1:c.1222C>A, NM_001352442.2:c.946C>A, NM_001352442.1:c.946C>A, NM_001322887.2:c.1222C>A, NM_001322887.1:c.1222C>A, NM_001352443.2:c.454C>A, NM_001352443.1:c.454C>A, NM_001322888.2:c.454C>A, NM_001322888.1:c.454C>A, NM_001322889.2:c.538C>A, NM_001322889.1:c.538C>A, NM_001322891.2:c.454C>A, NM_001322891.1:c.454C>A, NM_001322893.2:c.454C>A, NM_001322893.1:c.454C>A, NM_001322890.2:c.454C>A, NM_001322890.1:c.454C>A, NM_001322892.2:c.454C>A, NM_001322892.1:c.454C>A, NM_001322894.2:c.454C>A, NM_001322894.1:c.454C>A, NM_001322895.2:c.454C>A, NM_001322895.1:c.454C>A, NM_001322896.2:c.376C>A, NM_001322896.1:c.376C>A, NM_001322897.2:c.376C>A, NM_001322897.1:c.376C>A, NM_001322899.2:c.454C>A, NM_001322899.1:c.454C>A, NM_001322898.2:c.454C>A, NM_001322898.1:c.454C>A, NM_001322900.2:c.376C>A, NM_001322900.1:c.376C>A, NM_001352440.1:c.1174C>A, NM_001352441.1:c.1174C>A, XM_006717846.4:c.538C>A, XM_006717846.3:c.538C>A, XM_006717846.2:c.538C>A, XM_006717846.1:c.538C>A, XM_006717837.3:c.1306C>A, XM_006717837.2:c.1306C>A, XM_006717837.1:c.1306C>A, XM_011539802.3:c.1276C>A, XM_011539802.2:c.1276C>A, XM_011539802.1:c.1258C>A, XM_011539801.3:c.1030C>A, XM_011539801.2:c.1030C>A, XM_011539801.1:c.1345C>A, NM_006719.3:c.946C>A, XM_024448014.2:c.1258C>A, XM_024448014.1:c.1258C>A, XM_024448016.2:c.1174C>A, XM_024448016.1:c.1174C>A, XM_024448018.2:c.1258C>A, XM_024448018.1:c.1258C>A, XM_024448010.2:c.1447C>A, XM_024448010.1:c.1030C>A, XM_017016245.2:c.1255C>A, XM_017016245.1:c.1255C>A, XM_017016256.2:c.1174C>A, XM_017016256.1:c.1174C>A, XM_017016250.2:c.1171C>A, XM_017016250.1:c.1171C>A, XM_024448011.2:c.1447C>A, XM_024448011.1:c.1030C>A, XM_017016247.2:c.1447C>A, XM_017016247.1:c.1030C>A, XM_017016255.2:c.1171C>A, XM_017016255.1:c.1171C>A, XM_024448013.2:c.946C>A, XM_024448013.1:c.946C>A, NM_006719.2:c.946C>A, XM_047425233.1:c.1222C>A, XM_047425243.1:c.1222C>A, NM_001003408.1:c.1306C>A, XM_047425229.1:c.1447C>A, XM_047425231.1:c.1363C>A, XM_047425232.1:c.1363C>A, XM_047425234.1:c.1447C>A, XM_047425236.1:c.1447C>A, XM_047425237.1:c.1363C>A, XM_047425238.1:c.1363C>A, XM_047425239.1:c.1363C>A, XM_047425240.1:c.1447C>A, XM_047425242.1:c.1363C>A, XM_047425246.1:c.1174C>A, XM_047425244.1:c.1447C>A, XM_047425245.1:c.1363C>A, NP_002304.3:p.Pro468Thr, NP_006711.3:p.Pro180Thr, NP_001309813.1:p.Pro391Thr, NP_001309814.1:p.Pro391Thr, NP_001309815.1:p.Pro391Thr, NP_001309811.1:p.Pro436Thr, NP_001003407.1:p.Pro408Thr, NP_001309812.1:p.Pro408Thr, NP_001339371.1:p.Pro316Thr, NP_001309816.1:p.Pro408Thr, NP_001339372.1:p.Pro152Thr, NP_001309817.1:p.Pro152Thr, NP_001309818.1:p.Pro180Thr, NP_001309820.1:p.Pro152Thr, NP_001309822.1:p.Pro152Thr, NP_001309819.1:p.Pro152Thr, NP_001309821.1:p.Pro152Thr, NP_001309823.1:p.Pro152Thr, NP_001309824.1:p.Pro152Thr, NP_001309825.1:p.Pro126Thr, NP_001309826.1:p.Pro126Thr, NP_001309828.1:p.Pro152Thr, NP_001309827.1:p.Pro152Thr, NP_001309829.1:p.Pro126Thr, NP_001339369.1:p.Pro392Thr, NP_001339370.1:p.Pro392Thr, XP_006717909.1:p.Pro180Thr, XP_006717900.1:p.Pro436Thr, XP_011538104.2:p.Pro426Thr, XP_011538103.2:p.Pro344Thr, XP_024303782.1:p.Pro420Thr, XP_024303784.1:p.Pro392Thr, XP_024303786.1:p.Pro420Thr, XP_024303778.2:p.Pro483Thr, XP_016871734.1:p.Pro419Thr, XP_016871745.1:p.Pro392Thr, XP_016871739.1:p.Pro391Thr, XP_024303779.2:p.Pro483Thr, XP_016871736.2:p.Pro483Thr, XP_016871744.1:p.Pro391Thr, XP_024303781.1:p.Pro316Thr, XP_047281189.1:p.Pro408Thr, XP_047281199.1:p.Pro408Thr, XP_047281185.1:p.Pro483Thr, XP_047281187.1:p.Pro455Thr, XP_047281188.1:p.Pro455Thr, XP_047281190.1:p.Pro483Thr, XP_047281192.1:p.Pro483Thr, XP_047281193.1:p.Pro455Thr, XP_047281194.1:p.Pro455Thr, XP_047281195.1:p.Pro455Thr, XP_047281196.1:p.Pro483Thr, XP_047281198.1:p.Pro455Thr, XP_047281202.1:p.Pro392Thr, XP_047281200.1:p.Pro483Thr, XP_047281201.1:p.Pro455Thr

                      11.

                      rs1478997841 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        10:114547727 (GRCh38)
                        10:116307486 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:114547726:C:A
                        Gene:
                        ABLIM1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.114547727C>A, NC_000010.10:g.116307486C>A, NG_029872.2:g.278917G>T, NM_002313.7:c.723G>T, NM_002313.6:c.723G>T, NM_002313.5:c.723G>T, NM_001322884.3:c.492G>T, NM_001322884.2:c.492G>T, NM_001322884.1:c.492G>T, NM_001322885.3:c.492G>T, NM_001322885.2:c.492G>T, NM_001322885.1:c.492G>T, NM_001322886.3:c.492G>T, NM_001322886.2:c.492G>T, NM_001322886.1:c.492G>T, NM_001322882.2:c.543G>T, NM_001322882.1:c.543G>T, NM_001003407.2:c.543G>T, NM_001003407.1:c.543G>T, NM_001322883.2:c.543G>T, NM_001322883.1:c.543G>T, NM_001352442.2:c.267G>T, NM_001352442.1:c.267G>T, NM_001322887.2:c.543G>T, NM_001322887.1:c.543G>T, NM_001352440.1:c.495G>T, NM_001352441.1:c.495G>T, XM_006717837.3:c.543G>T, XM_006717837.2:c.543G>T, XM_006717837.1:c.543G>T, XM_011539802.3:c.513G>T, XM_011539802.2:c.513G>T, XM_011539802.1:c.495G>T, XM_011539801.3:c.267G>T, XM_011539801.2:c.267G>T, XM_011539801.1:c.582G>T, NM_006719.3:c.267G>T, XM_024448014.2:c.495G>T, XM_024448014.1:c.495G>T, XM_024448016.2:c.495G>T, XM_024448016.1:c.495G>T, XM_024448018.2:c.495G>T, XM_024448018.1:c.495G>T, XM_024448010.2:c.684G>T, XM_024448010.1:c.267G>T, XM_017016245.2:c.492G>T, XM_017016245.1:c.492G>T, XM_017016256.2:c.495G>T, XM_017016256.1:c.495G>T, XM_017016250.2:c.492G>T, XM_017016250.1:c.492G>T, XM_024448011.2:c.684G>T, XM_024448011.1:c.267G>T, XM_017016247.2:c.684G>T, XM_017016247.1:c.267G>T, XM_017016255.2:c.492G>T, XM_017016255.1:c.492G>T, XM_024448013.2:c.267G>T, XM_024448013.1:c.267G>T, NM_006719.2:c.267G>T, XM_047425233.1:c.543G>T, XM_047425243.1:c.543G>T, NM_001003408.1:c.543G>T, XM_047425229.1:c.684G>T, XM_047425231.1:c.684G>T, XM_047425232.1:c.684G>T, XM_047425234.1:c.684G>T, XM_047425236.1:c.684G>T, XM_047425237.1:c.684G>T, XM_047425238.1:c.684G>T, XM_047425239.1:c.684G>T, XM_047425240.1:c.684G>T, XM_047425242.1:c.684G>T, XM_047425246.1:c.495G>T, XM_047425244.1:c.684G>T, XM_047425245.1:c.684G>T

                        12.

                        rs1476146464 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:114437876 (GRCh38)
                          10:116197635 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:114437875:T:C
                          Gene:
                          ABLIM1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                          HGVS:
                          NC_000010.11:g.114437876T>C, NC_000010.10:g.116197635T>C, NG_029872.2:g.388768A>G, NM_002313.7:c.2191A>G, NM_002313.6:c.2191A>G, NM_002313.5:c.2191A>G, NM_006720.4:c.1222A>G, NM_006720.3:c.1222A>G, NM_001322884.3:c.1861A>G, NM_001322884.2:c.1861A>G, NM_001322884.1:c.1861A>G, NM_001322885.3:c.1855A>G, NM_001322885.2:c.1855A>G, NM_001322885.1:c.1855A>G, NM_001322886.3:c.1819A>G, NM_001322886.2:c.1819A>G, NM_001322886.1:c.1819A>G, NM_001322882.2:c.2101A>G, NM_001322882.1:c.2101A>G, NM_001003407.2:c.2011A>G, NM_001003407.1:c.2011A>G, NM_001322883.2:c.1906A>G, NM_001322883.1:c.1906A>G, NM_001352442.2:c.1630A>G, NM_001352442.1:c.1630A>G, NM_001322887.2:c.1765A>G, NM_001322887.1:c.1765A>G, NM_001352443.2:c.1249A>G, NM_001352443.1:c.1249A>G, NM_001322888.2:c.1222A>G, NM_001322888.1:c.1222A>G, NM_001322889.2:c.1186A>G, NM_001322889.1:c.1186A>G, NM_001322891.2:c.1144A>G, NM_001322891.1:c.1144A>G, NM_001322893.2:c.1138A>G, NM_001322893.1:c.1138A>G, NM_001322890.2:c.1144A>G, NM_001322890.1:c.1144A>G, NM_001322892.2:c.1138A>G, NM_001322892.1:c.1138A>G, NM_001322894.2:c.1102A>G, NM_001322894.1:c.1102A>G, NM_001322895.2:c.1102A>G, NM_001322895.1:c.1102A>G, NM_001322896.2:c.1060A>G, NM_001322896.1:c.1060A>G, NM_001322897.2:c.1024A>G, NM_001322897.1:c.1024A>G, NM_001322899.2:c.997A>G, NM_001322899.1:c.997A>G, NM_001322898.2:c.997A>G, NM_001322898.1:c.997A>G, NM_001322900.2:c.919A>G, NM_001322900.1:c.919A>G, NM_001352440.1:c.1822A>G, NM_001352441.1:c.1717A>G, XM_006717846.4:c.1453A>G, XM_006717846.3:c.1453A>G, XM_006717846.2:c.1453A>G, XM_006717846.1:c.1453A>G, XM_006717837.3:c.2221A>G, XM_006717837.2:c.2221A>G, XM_006717837.1:c.2221A>G, XM_011539802.3:c.2191A>G, XM_011539802.2:c.2191A>G, XM_011539802.1:c.2173A>G, XM_011539801.3:c.1945A>G, XM_011539801.2:c.1945A>G, XM_011539801.1:c.2260A>G, NM_006719.3:c.1735A>G, XM_024448014.2:c.2173A>G, XM_024448014.1:c.2173A>G, XM_024448016.2:c.2089A>G, XM_024448016.1:c.2089A>G, XM_024448018.2:c.1948A>G, XM_024448018.1:c.1948A>G, XM_024448010.2:c.2356A>G, XM_024448010.1:c.1939A>G, XM_017016245.2:c.2170A>G, XM_017016245.1:c.2170A>G, XM_017016256.2:c.1864A>G, XM_017016256.1:c.1864A>G, XM_017016250.2:c.2086A>G, XM_017016250.1:c.2086A>G, XM_024448011.2:c.2236A>G, XM_024448011.1:c.1819A>G, XM_017016247.2:c.2131A>G, XM_017016247.1:c.1714A>G, XM_017016255.2:c.1966A>G, XM_017016255.1:c.1966A>G, XM_024448013.2:c.1861A>G, XM_024448013.1:c.1861A>G, NM_006719.2:c.1735A>G, XM_047425233.1:c.2137A>G, XM_047425243.1:c.1912A>G, NM_001003408.1:c.2095A>G, XM_047425229.1:c.2242A>G, XM_047425231.1:c.2158A>G, XM_047425232.1:c.2152A>G, XM_047425234.1:c.2137A>G, XM_047425236.1:c.2095A>G, XM_047425237.1:c.2053A>G, XM_047425238.1:c.2047A>G, XM_047425239.1:c.2011A>G, XM_047425240.1:c.1990A>G, XM_047425242.1:c.1906A>G, NP_002304.3:p.Ile731Val, NP_006711.3:p.Ile408Val, NP_001309813.1:p.Ile621Val, NP_001309814.1:p.Ile619Val, NP_001309815.1:p.Ile607Val, NP_001309811.1:p.Ile701Val, NP_001003407.1:p.Ile671Val, NP_001309812.1:p.Ile636Val, NP_001339371.1:p.Ile544Val, NP_001309816.1:p.Ile589Val, NP_001339372.1:p.Ile417Val, NP_001309817.1:p.Ile408Val, NP_001309818.1:p.Ile396Val, NP_001309820.1:p.Ile382Val, NP_001309822.1:p.Ile380Val, NP_001309819.1:p.Ile382Val, NP_001309821.1:p.Ile380Val, NP_001309823.1:p.Ile368Val, NP_001309824.1:p.Ile368Val, NP_001309825.1:p.Ile354Val, NP_001309826.1:p.Ile342Val, NP_001309828.1:p.Ile333Val, NP_001309827.1:p.Ile333Val, NP_001309829.1:p.Ile307Val, NP_001339369.1:p.Ile608Val, NP_001339370.1:p.Ile573Val, XP_006717909.1:p.Ile485Val, XP_006717900.1:p.Ile741Val, XP_011538104.2:p.Ile731Val, XP_011538103.2:p.Ile649Val, XP_024303782.1:p.Ile725Val, XP_024303784.1:p.Ile697Val, XP_024303786.1:p.Ile650Val, XP_024303778.2:p.Ile786Val, XP_016871734.1:p.Ile724Val, XP_016871745.1:p.Ile622Val, XP_016871739.1:p.Ile696Val, XP_024303779.2:p.Ile746Val, XP_016871736.2:p.Ile711Val, XP_016871744.1:p.Ile656Val, XP_024303781.1:p.Ile621Val, XP_047281189.1:p.Ile713Val, XP_047281199.1:p.Ile638Val, XP_047281185.1:p.Ile748Val, XP_047281187.1:p.Ile720Val, XP_047281188.1:p.Ile718Val, XP_047281190.1:p.Ile713Val, XP_047281192.1:p.Ile699Val, XP_047281193.1:p.Ile685Val, XP_047281194.1:p.Ile683Val, XP_047281195.1:p.Ile671Val, XP_047281196.1:p.Ile664Val, XP_047281198.1:p.Ile636Val

                          13.

                          rs1475221118 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:114547722 (GRCh38)
                            10:116307481 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:114547721:T:C
                            Gene:
                            ABLIM1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.00007/1 (ALFA)
                            HGVS:
                            NC_000010.11:g.114547722T>C, NC_000010.10:g.116307481T>C, NG_029872.2:g.278922A>G, NM_002313.7:c.728A>G, NM_002313.6:c.728A>G, NM_002313.5:c.728A>G, NM_001322884.3:c.497A>G, NM_001322884.2:c.497A>G, NM_001322884.1:c.497A>G, NM_001322885.3:c.497A>G, NM_001322885.2:c.497A>G, NM_001322885.1:c.497A>G, NM_001322886.3:c.497A>G, NM_001322886.2:c.497A>G, NM_001322886.1:c.497A>G, NM_001322882.2:c.548A>G, NM_001322882.1:c.548A>G, NM_001003407.2:c.548A>G, NM_001003407.1:c.548A>G, NM_001322883.2:c.548A>G, NM_001322883.1:c.548A>G, NM_001352442.2:c.272A>G, NM_001352442.1:c.272A>G, NM_001322887.2:c.548A>G, NM_001322887.1:c.548A>G, NM_001352440.1:c.500A>G, NM_001352441.1:c.500A>G, XM_006717837.3:c.548A>G, XM_006717837.2:c.548A>G, XM_006717837.1:c.548A>G, XM_011539802.3:c.518A>G, XM_011539802.2:c.518A>G, XM_011539802.1:c.500A>G, XM_011539801.3:c.272A>G, XM_011539801.2:c.272A>G, XM_011539801.1:c.587A>G, NM_006719.3:c.272A>G, XM_024448014.2:c.500A>G, XM_024448014.1:c.500A>G, XM_024448016.2:c.500A>G, XM_024448016.1:c.500A>G, XM_024448018.2:c.500A>G, XM_024448018.1:c.500A>G, XM_024448010.2:c.689A>G, XM_024448010.1:c.272A>G, XM_017016245.2:c.497A>G, XM_017016245.1:c.497A>G, XM_017016256.2:c.500A>G, XM_017016256.1:c.500A>G, XM_017016250.2:c.497A>G, XM_017016250.1:c.497A>G, XM_024448011.2:c.689A>G, XM_024448011.1:c.272A>G, XM_017016247.2:c.689A>G, XM_017016247.1:c.272A>G, XM_017016255.2:c.497A>G, XM_017016255.1:c.497A>G, XM_024448013.2:c.272A>G, XM_024448013.1:c.272A>G, NM_006719.2:c.272A>G, XM_047425233.1:c.548A>G, XM_047425243.1:c.548A>G, NM_001003408.1:c.548A>G, XM_047425229.1:c.689A>G, XM_047425231.1:c.689A>G, XM_047425232.1:c.689A>G, XM_047425234.1:c.689A>G, XM_047425236.1:c.689A>G, XM_047425237.1:c.689A>G, XM_047425238.1:c.689A>G, XM_047425239.1:c.689A>G, XM_047425240.1:c.689A>G, XM_047425242.1:c.689A>G, XM_047425246.1:c.500A>G, XM_047425244.1:c.689A>G, XM_047425245.1:c.689A>G, NP_002304.3:p.Asp243Gly, NP_001309813.1:p.Asp166Gly, NP_001309814.1:p.Asp166Gly, NP_001309815.1:p.Asp166Gly, NP_001309811.1:p.Asp183Gly, NP_001003407.1:p.Asp183Gly, NP_001309812.1:p.Asp183Gly, NP_001339371.1:p.Asp91Gly, NP_001309816.1:p.Asp183Gly, NP_001339369.1:p.Asp167Gly, NP_001339370.1:p.Asp167Gly, XP_006717900.1:p.Asp183Gly, XP_011538104.2:p.Asp173Gly, XP_011538103.2:p.Asp91Gly, XP_024303782.1:p.Asp167Gly, XP_024303784.1:p.Asp167Gly, XP_024303786.1:p.Asp167Gly, XP_024303778.2:p.Asp230Gly, XP_016871734.1:p.Asp166Gly, XP_016871745.1:p.Asp167Gly, XP_016871739.1:p.Asp166Gly, XP_024303779.2:p.Asp230Gly, XP_016871736.2:p.Asp230Gly, XP_016871744.1:p.Asp166Gly, XP_024303781.1:p.Asp91Gly, XP_047281189.1:p.Asp183Gly, XP_047281199.1:p.Asp183Gly, XP_047281185.1:p.Asp230Gly, XP_047281187.1:p.Asp230Gly, XP_047281188.1:p.Asp230Gly, XP_047281190.1:p.Asp230Gly, XP_047281192.1:p.Asp230Gly, XP_047281193.1:p.Asp230Gly, XP_047281194.1:p.Asp230Gly, XP_047281195.1:p.Asp230Gly, XP_047281196.1:p.Asp230Gly, XP_047281198.1:p.Asp230Gly, XP_047281202.1:p.Asp167Gly, XP_047281200.1:p.Asp230Gly, XP_047281201.1:p.Asp230Gly

                            14.

                            rs1473633676 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:114444080 (GRCh38)
                              10:116203839 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:114444079:G:A
                              Gene:
                              ABLIM1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              A=0.000016/4 (GnomAD_exomes)
                              A=0.000019/5 (TOPMED)
                              HGVS:
                              NC_000010.11:g.114444080G>A, NC_000010.10:g.116203839G>A, NG_029872.2:g.382564C>T, NM_002313.7:c.1882C>T, NM_002313.6:c.1882C>T, NM_002313.5:c.1882C>T, NM_006720.4:c.913C>T, NM_006720.3:c.913C>T, NM_001322884.3:c.1552C>T, NM_001322884.2:c.1552C>T, NM_001322884.1:c.1552C>T, NM_001322885.3:c.1546C>T, NM_001322885.2:c.1546C>T, NM_001322885.1:c.1546C>T, NM_001322886.3:c.1510C>T, NM_001322886.2:c.1510C>T, NM_001322886.1:c.1510C>T, NM_001322882.2:c.1792C>T, NM_001322882.1:c.1792C>T, NM_001003407.2:c.1702C>T, NM_001003407.1:c.1702C>T, NM_001322883.2:c.1597C>T, NM_001322883.1:c.1597C>T, NM_001352442.2:c.1321C>T, NM_001352442.1:c.1321C>T, NM_001322887.2:c.1456C>T, NM_001322887.1:c.1456C>T, NM_001352443.2:c.940C>T, NM_001352443.1:c.940C>T, NM_001322888.2:c.913C>T, NM_001322888.1:c.913C>T, NM_001322889.2:c.877C>T, NM_001322889.1:c.877C>T, NM_001322891.2:c.835C>T, NM_001322891.1:c.835C>T, NM_001322893.2:c.829C>T, NM_001322893.1:c.829C>T, NM_001322890.2:c.835C>T, NM_001322890.1:c.835C>T, NM_001322892.2:c.829C>T, NM_001322892.1:c.829C>T, NM_001322894.2:c.793C>T, NM_001322894.1:c.793C>T, NM_001322895.2:c.793C>T, NM_001322895.1:c.793C>T, NM_001322896.2:c.751C>T, NM_001322896.1:c.751C>T, NM_001322897.2:c.715C>T, NM_001322897.1:c.715C>T, NM_001322899.2:c.688C>T, NM_001322899.1:c.688C>T, NM_001322898.2:c.688C>T, NM_001322898.1:c.688C>T, NM_001322900.2:c.610C>T, NM_001322900.1:c.610C>T, NM_001352440.1:c.1513C>T, NM_001352441.1:c.1408C>T, XM_006717846.4:c.1144C>T, XM_006717846.3:c.1144C>T, XM_006717846.2:c.1144C>T, XM_006717846.1:c.1144C>T, XM_006717837.3:c.1912C>T, XM_006717837.2:c.1912C>T, XM_006717837.1:c.1912C>T, XM_011539802.3:c.1882C>T, XM_011539802.2:c.1882C>T, XM_011539802.1:c.1864C>T, XM_011539801.3:c.1636C>T, XM_011539801.2:c.1636C>T, XM_011539801.1:c.1951C>T, NM_006719.3:c.1426C>T, XM_024448014.2:c.1864C>T, XM_024448014.1:c.1864C>T, XM_024448016.2:c.1780C>T, XM_024448016.1:c.1780C>T, XM_024448018.2:c.1639C>T, XM_024448018.1:c.1639C>T, XM_024448010.2:c.2047C>T, XM_024448010.1:c.1630C>T, XM_017016245.2:c.1861C>T, XM_017016245.1:c.1861C>T, XM_017016256.2:c.1555C>T, XM_017016256.1:c.1555C>T, XM_017016250.2:c.1777C>T, XM_017016250.1:c.1777C>T, XM_024448011.2:c.1927C>T, XM_024448011.1:c.1510C>T, XM_017016247.2:c.1822C>T, XM_017016247.1:c.1405C>T, XM_017016255.2:c.1657C>T, XM_017016255.1:c.1657C>T, XM_024448013.2:c.1552C>T, XM_024448013.1:c.1552C>T, NM_006719.2:c.1426C>T, XM_047425233.1:c.1828C>T, XM_047425243.1:c.1603C>T, NM_001003408.1:c.1786C>T, XM_047425229.1:c.1933C>T, XM_047425231.1:c.1849C>T, XM_047425232.1:c.1843C>T, XM_047425234.1:c.1828C>T, XM_047425236.1:c.1786C>T, XM_047425237.1:c.1744C>T, XM_047425238.1:c.1738C>T, XM_047425239.1:c.1702C>T, XM_047425240.1:c.1681C>T, XM_047425242.1:c.1597C>T, NP_002304.3:p.Arg628Trp, NP_006711.3:p.Arg305Trp, NP_001309813.1:p.Arg518Trp, NP_001309814.1:p.Arg516Trp, NP_001309815.1:p.Arg504Trp, NP_001309811.1:p.Arg598Trp, NP_001003407.1:p.Arg568Trp, NP_001309812.1:p.Arg533Trp, NP_001339371.1:p.Arg441Trp, NP_001309816.1:p.Arg486Trp, NP_001339372.1:p.Arg314Trp, NP_001309817.1:p.Arg305Trp, NP_001309818.1:p.Arg293Trp, NP_001309820.1:p.Arg279Trp, NP_001309822.1:p.Arg277Trp, NP_001309819.1:p.Arg279Trp, NP_001309821.1:p.Arg277Trp, NP_001309823.1:p.Arg265Trp, NP_001309824.1:p.Arg265Trp, NP_001309825.1:p.Arg251Trp, NP_001309826.1:p.Arg239Trp, NP_001309828.1:p.Arg230Trp, NP_001309827.1:p.Arg230Trp, NP_001309829.1:p.Arg204Trp, NP_001339369.1:p.Arg505Trp, NP_001339370.1:p.Arg470Trp, XP_006717909.1:p.Arg382Trp, XP_006717900.1:p.Arg638Trp, XP_011538104.2:p.Arg628Trp, XP_011538103.2:p.Arg546Trp, XP_024303782.1:p.Arg622Trp, XP_024303784.1:p.Arg594Trp, XP_024303786.1:p.Arg547Trp, XP_024303778.2:p.Arg683Trp, XP_016871734.1:p.Arg621Trp, XP_016871745.1:p.Arg519Trp, XP_016871739.1:p.Arg593Trp, XP_024303779.2:p.Arg643Trp, XP_016871736.2:p.Arg608Trp, XP_016871744.1:p.Arg553Trp, XP_024303781.1:p.Arg518Trp, XP_047281189.1:p.Arg610Trp, XP_047281199.1:p.Arg535Trp, XP_047281185.1:p.Arg645Trp, XP_047281187.1:p.Arg617Trp, XP_047281188.1:p.Arg615Trp, XP_047281190.1:p.Arg610Trp, XP_047281192.1:p.Arg596Trp, XP_047281193.1:p.Arg582Trp, XP_047281194.1:p.Arg580Trp, XP_047281195.1:p.Arg568Trp, XP_047281196.1:p.Arg561Trp, XP_047281198.1:p.Arg533Trp

                              15.

                              rs1473609541 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                10:114441076 (GRCh38)
                                10:116200835 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:114441075:G:C
                                Gene:
                                ABLIM1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.00001/2 (GnomAD_exomes)
                                C=0.000019/5 (TOPMED)
                                HGVS:
                                NC_000010.11:g.114441076G>C, NC_000010.10:g.116200835G>C, NG_029872.2:g.385568C>G, NM_002313.7:c.2000C>G, NM_002313.6:c.2000C>G, NM_002313.5:c.2000C>G, NM_006720.4:c.1031C>G, NM_006720.3:c.1031C>G, NM_001322884.3:c.1670C>G, NM_001322884.2:c.1670C>G, NM_001322884.1:c.1670C>G, NM_001322885.3:c.1664C>G, NM_001322885.2:c.1664C>G, NM_001322885.1:c.1664C>G, NM_001322886.3:c.1628C>G, NM_001322886.2:c.1628C>G, NM_001322886.1:c.1628C>G, NM_001322882.2:c.1910C>G, NM_001322882.1:c.1910C>G, NM_001003407.2:c.1820C>G, NM_001003407.1:c.1820C>G, NM_001322883.2:c.1715C>G, NM_001322883.1:c.1715C>G, NM_001352442.2:c.1439C>G, NM_001352442.1:c.1439C>G, NM_001322887.2:c.1574C>G, NM_001322887.1:c.1574C>G, NM_001352443.2:c.1058C>G, NM_001352443.1:c.1058C>G, NM_001322888.2:c.1031C>G, NM_001322888.1:c.1031C>G, NM_001322889.2:c.995C>G, NM_001322889.1:c.995C>G, NM_001322891.2:c.953C>G, NM_001322891.1:c.953C>G, NM_001322893.2:c.947C>G, NM_001322893.1:c.947C>G, NM_001322890.2:c.953C>G, NM_001322890.1:c.953C>G, NM_001322892.2:c.947C>G, NM_001322892.1:c.947C>G, NM_001322894.2:c.911C>G, NM_001322894.1:c.911C>G, NM_001322895.2:c.911C>G, NM_001322895.1:c.911C>G, NM_001322896.2:c.869C>G, NM_001322896.1:c.869C>G, NM_001322897.2:c.833C>G, NM_001322897.1:c.833C>G, NM_001322899.2:c.806C>G, NM_001322899.1:c.806C>G, NM_001322898.2:c.806C>G, NM_001322898.1:c.806C>G, NM_001322900.2:c.728C>G, NM_001322900.1:c.728C>G, NM_001352440.1:c.1631C>G, NM_001352441.1:c.1526C>G, XM_006717846.4:c.1262C>G, XM_006717846.3:c.1262C>G, XM_006717846.2:c.1262C>G, XM_006717846.1:c.1262C>G, XM_006717837.3:c.2030C>G, XM_006717837.2:c.2030C>G, XM_006717837.1:c.2030C>G, XM_011539802.3:c.2000C>G, XM_011539802.2:c.2000C>G, XM_011539802.1:c.1982C>G, XM_011539801.3:c.1754C>G, XM_011539801.2:c.1754C>G, XM_011539801.1:c.2069C>G, NM_006719.3:c.1544C>G, XM_024448014.2:c.1982C>G, XM_024448014.1:c.1982C>G, XM_024448016.2:c.1898C>G, XM_024448016.1:c.1898C>G, XM_024448018.2:c.1757C>G, XM_024448018.1:c.1757C>G, XM_024448010.2:c.2165C>G, XM_024448010.1:c.1748C>G, XM_017016245.2:c.1979C>G, XM_017016245.1:c.1979C>G, XM_017016256.2:c.1673C>G, XM_017016256.1:c.1673C>G, XM_017016250.2:c.1895C>G, XM_017016250.1:c.1895C>G, XM_024448011.2:c.2045C>G, XM_024448011.1:c.1628C>G, XM_017016247.2:c.1940C>G, XM_017016247.1:c.1523C>G, XM_017016255.2:c.1775C>G, XM_017016255.1:c.1775C>G, XM_024448013.2:c.1670C>G, XM_024448013.1:c.1670C>G, NM_006719.2:c.1544C>G, XM_047425233.1:c.1946C>G, XM_047425243.1:c.1721C>G, NM_001003408.1:c.1904C>G, XM_047425229.1:c.2051C>G, XM_047425231.1:c.1967C>G, XM_047425232.1:c.1961C>G, XM_047425234.1:c.1946C>G, XM_047425236.1:c.1904C>G, XM_047425237.1:c.1862C>G, XM_047425238.1:c.1856C>G, XM_047425239.1:c.1820C>G, XM_047425240.1:c.1799C>G, XM_047425242.1:c.1715C>G, NP_002304.3:p.Pro667Arg, NP_006711.3:p.Pro344Arg, NP_001309813.1:p.Pro557Arg, NP_001309814.1:p.Pro555Arg, NP_001309815.1:p.Pro543Arg, NP_001309811.1:p.Pro637Arg, NP_001003407.1:p.Pro607Arg, NP_001309812.1:p.Pro572Arg, NP_001339371.1:p.Pro480Arg, NP_001309816.1:p.Pro525Arg, NP_001339372.1:p.Pro353Arg, NP_001309817.1:p.Pro344Arg, NP_001309818.1:p.Pro332Arg, NP_001309820.1:p.Pro318Arg, NP_001309822.1:p.Pro316Arg, NP_001309819.1:p.Pro318Arg, NP_001309821.1:p.Pro316Arg, NP_001309823.1:p.Pro304Arg, NP_001309824.1:p.Pro304Arg, NP_001309825.1:p.Pro290Arg, NP_001309826.1:p.Pro278Arg, NP_001309828.1:p.Pro269Arg, NP_001309827.1:p.Pro269Arg, NP_001309829.1:p.Pro243Arg, NP_001339369.1:p.Pro544Arg, NP_001339370.1:p.Pro509Arg, XP_006717909.1:p.Pro421Arg, XP_006717900.1:p.Pro677Arg, XP_011538104.2:p.Pro667Arg, XP_011538103.2:p.Pro585Arg, XP_024303782.1:p.Pro661Arg, XP_024303784.1:p.Pro633Arg, XP_024303786.1:p.Pro586Arg, XP_024303778.2:p.Pro722Arg, XP_016871734.1:p.Pro660Arg, XP_016871745.1:p.Pro558Arg, XP_016871739.1:p.Pro632Arg, XP_024303779.2:p.Pro682Arg, XP_016871736.2:p.Pro647Arg, XP_016871744.1:p.Pro592Arg, XP_024303781.1:p.Pro557Arg, XP_047281189.1:p.Pro649Arg, XP_047281199.1:p.Pro574Arg, XP_047281185.1:p.Pro684Arg, XP_047281187.1:p.Pro656Arg, XP_047281188.1:p.Pro654Arg, XP_047281190.1:p.Pro649Arg, XP_047281192.1:p.Pro635Arg, XP_047281193.1:p.Pro621Arg, XP_047281194.1:p.Pro619Arg, XP_047281195.1:p.Pro607Arg, XP_047281196.1:p.Pro600Arg, XP_047281198.1:p.Pro572Arg

                                16.

                                rs1472650832 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:114441065 (GRCh38)
                                  10:116200824 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:114441064:C:T
                                  Gene:
                                  ABLIM1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000021/3 (GnomAD)
                                  T=0.000023/6 (TOPMED)
                                  HGVS:
                                  NC_000010.11:g.114441065C>T, NC_000010.10:g.116200824C>T, NG_029872.2:g.385579G>A, NM_002313.7:c.2011G>A, NM_002313.6:c.2011G>A, NM_002313.5:c.2011G>A, NM_006720.4:c.1042G>A, NM_006720.3:c.1042G>A, NM_001322884.3:c.1681G>A, NM_001322884.2:c.1681G>A, NM_001322884.1:c.1681G>A, NM_001322885.3:c.1675G>A, NM_001322885.2:c.1675G>A, NM_001322885.1:c.1675G>A, NM_001322886.3:c.1639G>A, NM_001322886.2:c.1639G>A, NM_001322886.1:c.1639G>A, NM_001322882.2:c.1921G>A, NM_001322882.1:c.1921G>A, NM_001003407.2:c.1831G>A, NM_001003407.1:c.1831G>A, NM_001322883.2:c.1726G>A, NM_001322883.1:c.1726G>A, NM_001352442.2:c.1450G>A, NM_001352442.1:c.1450G>A, NM_001322887.2:c.1585G>A, NM_001322887.1:c.1585G>A, NM_001352443.2:c.1069G>A, NM_001352443.1:c.1069G>A, NM_001322888.2:c.1042G>A, NM_001322888.1:c.1042G>A, NM_001322889.2:c.1006G>A, NM_001322889.1:c.1006G>A, NM_001322891.2:c.964G>A, NM_001322891.1:c.964G>A, NM_001322893.2:c.958G>A, NM_001322893.1:c.958G>A, NM_001322890.2:c.964G>A, NM_001322890.1:c.964G>A, NM_001322892.2:c.958G>A, NM_001322892.1:c.958G>A, NM_001322894.2:c.922G>A, NM_001322894.1:c.922G>A, NM_001322895.2:c.922G>A, NM_001322895.1:c.922G>A, NM_001322896.2:c.880G>A, NM_001322896.1:c.880G>A, NM_001322897.2:c.844G>A, NM_001322897.1:c.844G>A, NM_001322899.2:c.817G>A, NM_001322899.1:c.817G>A, NM_001322898.2:c.817G>A, NM_001322898.1:c.817G>A, NM_001322900.2:c.739G>A, NM_001322900.1:c.739G>A, NM_001352440.1:c.1642G>A, NM_001352441.1:c.1537G>A, XM_006717846.4:c.1273G>A, XM_006717846.3:c.1273G>A, XM_006717846.2:c.1273G>A, XM_006717846.1:c.1273G>A, XM_006717837.3:c.2041G>A, XM_006717837.2:c.2041G>A, XM_006717837.1:c.2041G>A, XM_011539802.3:c.2011G>A, XM_011539802.2:c.2011G>A, XM_011539802.1:c.1993G>A, XM_011539801.3:c.1765G>A, XM_011539801.2:c.1765G>A, XM_011539801.1:c.2080G>A, NM_006719.3:c.1555G>A, XM_024448014.2:c.1993G>A, XM_024448014.1:c.1993G>A, XM_024448016.2:c.1909G>A, XM_024448016.1:c.1909G>A, XM_024448018.2:c.1768G>A, XM_024448018.1:c.1768G>A, XM_024448010.2:c.2176G>A, XM_024448010.1:c.1759G>A, XM_017016245.2:c.1990G>A, XM_017016245.1:c.1990G>A, XM_017016256.2:c.1684G>A, XM_017016256.1:c.1684G>A, XM_017016250.2:c.1906G>A, XM_017016250.1:c.1906G>A, XM_024448011.2:c.2056G>A, XM_024448011.1:c.1639G>A, XM_017016247.2:c.1951G>A, XM_017016247.1:c.1534G>A, XM_017016255.2:c.1786G>A, XM_017016255.1:c.1786G>A, XM_024448013.2:c.1681G>A, XM_024448013.1:c.1681G>A, NM_006719.2:c.1555G>A, XM_047425233.1:c.1957G>A, XM_047425243.1:c.1732G>A, NM_001003408.1:c.1915G>A, XM_047425229.1:c.2062G>A, XM_047425231.1:c.1978G>A, XM_047425232.1:c.1972G>A, XM_047425234.1:c.1957G>A, XM_047425236.1:c.1915G>A, XM_047425237.1:c.1873G>A, XM_047425238.1:c.1867G>A, XM_047425239.1:c.1831G>A, XM_047425240.1:c.1810G>A, XM_047425242.1:c.1726G>A, NP_002304.3:p.Asp671Asn, NP_006711.3:p.Asp348Asn, NP_001309813.1:p.Asp561Asn, NP_001309814.1:p.Asp559Asn, NP_001309815.1:p.Asp547Asn, NP_001309811.1:p.Asp641Asn, NP_001003407.1:p.Asp611Asn, NP_001309812.1:p.Asp576Asn, NP_001339371.1:p.Asp484Asn, NP_001309816.1:p.Asp529Asn, NP_001339372.1:p.Asp357Asn, NP_001309817.1:p.Asp348Asn, NP_001309818.1:p.Asp336Asn, NP_001309820.1:p.Asp322Asn, NP_001309822.1:p.Asp320Asn, NP_001309819.1:p.Asp322Asn, NP_001309821.1:p.Asp320Asn, NP_001309823.1:p.Asp308Asn, NP_001309824.1:p.Asp308Asn, NP_001309825.1:p.Asp294Asn, NP_001309826.1:p.Asp282Asn, NP_001309828.1:p.Asp273Asn, NP_001309827.1:p.Asp273Asn, NP_001309829.1:p.Asp247Asn, NP_001339369.1:p.Asp548Asn, NP_001339370.1:p.Asp513Asn, XP_006717909.1:p.Asp425Asn, XP_006717900.1:p.Asp681Asn, XP_011538104.2:p.Asp671Asn, XP_011538103.2:p.Asp589Asn, XP_024303782.1:p.Asp665Asn, XP_024303784.1:p.Asp637Asn, XP_024303786.1:p.Asp590Asn, XP_024303778.2:p.Asp726Asn, XP_016871734.1:p.Asp664Asn, XP_016871745.1:p.Asp562Asn, XP_016871739.1:p.Asp636Asn, XP_024303779.2:p.Asp686Asn, XP_016871736.2:p.Asp651Asn, XP_016871744.1:p.Asp596Asn, XP_024303781.1:p.Asp561Asn, XP_047281189.1:p.Asp653Asn, XP_047281199.1:p.Asp578Asn, XP_047281185.1:p.Asp688Asn, XP_047281187.1:p.Asp660Asn, XP_047281188.1:p.Asp658Asn, XP_047281190.1:p.Asp653Asn, XP_047281192.1:p.Asp639Asn, XP_047281193.1:p.Asp625Asn, XP_047281194.1:p.Asp623Asn, XP_047281195.1:p.Asp611Asn, XP_047281196.1:p.Asp604Asn, XP_047281198.1:p.Asp576Asn

                                  17.

                                  rs1470800968 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:114465744 (GRCh38)
                                    10:116225503 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:114465743:G:A
                                    Gene:
                                    ABLIM1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    HGVS:
                                    NC_000010.11:g.114465744G>A, NC_000010.10:g.116225503G>A, NG_029872.2:g.360900C>T, NM_002313.7:c.1395C>T, NM_002313.6:c.1395C>T, NM_002313.5:c.1395C>T, NM_006720.4:c.531C>T, NM_006720.3:c.531C>T, NM_001322884.3:c.1164C>T, NM_001322884.2:c.1164C>T, NM_001322884.1:c.1164C>T, NM_001322885.3:c.1164C>T, NM_001322885.2:c.1164C>T, NM_001322885.1:c.1164C>T, NM_001322886.3:c.1164C>T, NM_001322886.2:c.1164C>T, NM_001322886.1:c.1164C>T, NM_001322882.2:c.1299C>T, NM_001322882.1:c.1299C>T, NM_001003407.2:c.1215C>T, NM_001003407.1:c.1215C>T, NM_001322883.2:c.1215C>T, NM_001322883.1:c.1215C>T, NM_001352442.2:c.939C>T, NM_001352442.1:c.939C>T, NM_001322887.2:c.1215C>T, NM_001322887.1:c.1215C>T, NM_001352443.2:c.447C>T, NM_001352443.1:c.447C>T, NM_001322888.2:c.447C>T, NM_001322888.1:c.447C>T, NM_001322889.2:c.531C>T, NM_001322889.1:c.531C>T, NM_001322891.2:c.447C>T, NM_001322891.1:c.447C>T, NM_001322893.2:c.447C>T, NM_001322893.1:c.447C>T, NM_001322890.2:c.447C>T, NM_001322890.1:c.447C>T, NM_001322892.2:c.447C>T, NM_001322892.1:c.447C>T, NM_001322894.2:c.447C>T, NM_001322894.1:c.447C>T, NM_001322895.2:c.447C>T, NM_001322895.1:c.447C>T, NM_001322896.2:c.369C>T, NM_001322896.1:c.369C>T, NM_001322897.2:c.369C>T, NM_001322897.1:c.369C>T, NM_001322899.2:c.447C>T, NM_001322899.1:c.447C>T, NM_001322898.2:c.447C>T, NM_001322898.1:c.447C>T, NM_001322900.2:c.369C>T, NM_001322900.1:c.369C>T, NM_001352440.1:c.1167C>T, NM_001352441.1:c.1167C>T, XM_006717846.4:c.531C>T, XM_006717846.3:c.531C>T, XM_006717846.2:c.531C>T, XM_006717846.1:c.531C>T, XM_006717837.3:c.1299C>T, XM_006717837.2:c.1299C>T, XM_006717837.1:c.1299C>T, XM_011539802.3:c.1269C>T, XM_011539802.2:c.1269C>T, XM_011539802.1:c.1251C>T, XM_011539801.3:c.1023C>T, XM_011539801.2:c.1023C>T, XM_011539801.1:c.1338C>T, NM_006719.3:c.939C>T, XM_024448014.2:c.1251C>T, XM_024448014.1:c.1251C>T, XM_024448016.2:c.1167C>T, XM_024448016.1:c.1167C>T, XM_024448018.2:c.1251C>T, XM_024448018.1:c.1251C>T, XM_024448010.2:c.1440C>T, XM_024448010.1:c.1023C>T, XM_017016245.2:c.1248C>T, XM_017016245.1:c.1248C>T, XM_017016256.2:c.1167C>T, XM_017016256.1:c.1167C>T, XM_017016250.2:c.1164C>T, XM_017016250.1:c.1164C>T, XM_024448011.2:c.1440C>T, XM_024448011.1:c.1023C>T, XM_017016247.2:c.1440C>T, XM_017016247.1:c.1023C>T, XM_017016255.2:c.1164C>T, XM_017016255.1:c.1164C>T, XM_024448013.2:c.939C>T, XM_024448013.1:c.939C>T, NM_006719.2:c.939C>T, XM_047425233.1:c.1215C>T, XM_047425243.1:c.1215C>T, NM_001003408.1:c.1299C>T, XM_047425229.1:c.1440C>T, XM_047425231.1:c.1356C>T, XM_047425232.1:c.1356C>T, XM_047425234.1:c.1440C>T, XM_047425236.1:c.1440C>T, XM_047425237.1:c.1356C>T, XM_047425238.1:c.1356C>T, XM_047425239.1:c.1356C>T, XM_047425240.1:c.1440C>T, XM_047425242.1:c.1356C>T, XM_047425246.1:c.1167C>T, XM_047425244.1:c.1440C>T, XM_047425245.1:c.1356C>T

                                    18.

                                    rs1470493333 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:114436285 (GRCh38)
                                      10:116196044 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:114436284:A:G
                                      Gene:
                                      ABLIM1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.114436285A>G, NC_000010.10:g.116196044A>G, NG_029872.2:g.390359T>C, NM_002313.7:c.2312T>C, NM_002313.6:c.2312T>C, NM_002313.5:c.2312T>C, NM_006720.4:c.1343T>C, NM_006720.3:c.1343T>C, NM_001322884.3:c.1982T>C, NM_001322884.2:c.1982T>C, NM_001322884.1:c.1982T>C, NM_001322885.3:c.1976T>C, NM_001322885.2:c.1976T>C, NM_001322885.1:c.1976T>C, NM_001322886.3:c.1940T>C, NM_001322886.2:c.1940T>C, NM_001322886.1:c.1940T>C, NM_001322882.2:c.2222T>C, NM_001322882.1:c.2222T>C, NM_001003407.2:c.2132T>C, NM_001003407.1:c.2132T>C, NM_001322883.2:c.2027T>C, NM_001322883.1:c.2027T>C, NM_001352442.2:c.1751T>C, NM_001352442.1:c.1751T>C, NM_001322887.2:c.1886T>C, NM_001322887.1:c.1886T>C, NM_001352443.2:c.1370T>C, NM_001352443.1:c.1370T>C, NM_001322888.2:c.1343T>C, NM_001322888.1:c.1343T>C, NM_001322889.2:c.1307T>C, NM_001322889.1:c.1307T>C, NM_001322891.2:c.1265T>C, NM_001322891.1:c.1265T>C, NM_001322893.2:c.1259T>C, NM_001322893.1:c.1259T>C, NM_001322890.2:c.1265T>C, NM_001322890.1:c.1265T>C, NM_001322892.2:c.1259T>C, NM_001322892.1:c.1259T>C, NM_001322894.2:c.1223T>C, NM_001322894.1:c.1223T>C, NM_001322895.2:c.1223T>C, NM_001322895.1:c.1223T>C, NM_001322896.2:c.1181T>C, NM_001322896.1:c.1181T>C, NM_001322897.2:c.1145T>C, NM_001322897.1:c.1145T>C, NM_001322899.2:c.1118T>C, NM_001322899.1:c.1118T>C, NM_001322898.2:c.1118T>C, NM_001322898.1:c.1118T>C, NM_001322900.2:c.1040T>C, NM_001322900.1:c.1040T>C, NM_001352440.1:c.1943T>C, NM_001352441.1:c.1838T>C, XM_006717846.4:c.1574T>C, XM_006717846.3:c.1574T>C, XM_006717846.2:c.1574T>C, XM_006717846.1:c.1574T>C, XM_006717837.3:c.2342T>C, XM_006717837.2:c.2342T>C, XM_006717837.1:c.2342T>C, XM_011539802.3:c.2312T>C, XM_011539802.2:c.2312T>C, XM_011539802.1:c.2294T>C, XM_011539801.3:c.2066T>C, XM_011539801.2:c.2066T>C, XM_011539801.1:c.2381T>C, NM_006719.3:c.1856T>C, XM_024448014.2:c.2294T>C, XM_024448014.1:c.2294T>C, XM_024448016.2:c.2210T>C, XM_024448016.1:c.2210T>C, XM_024448018.2:c.2069T>C, XM_024448018.1:c.2069T>C, XM_024448010.2:c.2477T>C, XM_024448010.1:c.2060T>C, XM_017016245.2:c.2291T>C, XM_017016245.1:c.2291T>C, XM_017016256.2:c.1985T>C, XM_017016256.1:c.1985T>C, XM_017016250.2:c.2207T>C, XM_017016250.1:c.2207T>C, XM_024448011.2:c.2357T>C, XM_024448011.1:c.1940T>C, XM_017016247.2:c.2252T>C, XM_017016247.1:c.1835T>C, XM_017016255.2:c.2087T>C, XM_017016255.1:c.2087T>C, XM_024448013.2:c.1982T>C, XM_024448013.1:c.1982T>C, NM_006719.2:c.1856T>C, XM_047425233.1:c.2258T>C, XM_047425243.1:c.2033T>C, NM_001003408.1:c.2216T>C, XM_047425229.1:c.2363T>C, XM_047425231.1:c.2279T>C, XM_047425232.1:c.2273T>C, XM_047425234.1:c.2258T>C, XM_047425236.1:c.2216T>C, XM_047425237.1:c.2174T>C, XM_047425238.1:c.2168T>C, XM_047425239.1:c.2132T>C, XM_047425240.1:c.2111T>C, XM_047425242.1:c.2027T>C, NP_002304.3:p.Met771Thr, NP_006711.3:p.Met448Thr, NP_001309813.1:p.Met661Thr, NP_001309814.1:p.Met659Thr, NP_001309815.1:p.Met647Thr, NP_001309811.1:p.Met741Thr, NP_001003407.1:p.Met711Thr, NP_001309812.1:p.Met676Thr, NP_001339371.1:p.Met584Thr, NP_001309816.1:p.Met629Thr, NP_001339372.1:p.Met457Thr, NP_001309817.1:p.Met448Thr, NP_001309818.1:p.Met436Thr, NP_001309820.1:p.Met422Thr, NP_001309822.1:p.Met420Thr, NP_001309819.1:p.Met422Thr, NP_001309821.1:p.Met420Thr, NP_001309823.1:p.Met408Thr, NP_001309824.1:p.Met408Thr, NP_001309825.1:p.Met394Thr, NP_001309826.1:p.Met382Thr, NP_001309828.1:p.Met373Thr, NP_001309827.1:p.Met373Thr, NP_001309829.1:p.Met347Thr, NP_001339369.1:p.Met648Thr, NP_001339370.1:p.Met613Thr, XP_006717909.1:p.Met525Thr, XP_006717900.1:p.Met781Thr, XP_011538104.2:p.Met771Thr, XP_011538103.2:p.Met689Thr, XP_024303782.1:p.Met765Thr, XP_024303784.1:p.Met737Thr, XP_024303786.1:p.Met690Thr, XP_024303778.2:p.Met826Thr, XP_016871734.1:p.Met764Thr, XP_016871745.1:p.Met662Thr, XP_016871739.1:p.Met736Thr, XP_024303779.2:p.Met786Thr, XP_016871736.2:p.Met751Thr, XP_016871744.1:p.Met696Thr, XP_024303781.1:p.Met661Thr, XP_047281189.1:p.Met753Thr, XP_047281199.1:p.Met678Thr, XP_047281185.1:p.Met788Thr, XP_047281187.1:p.Met760Thr, XP_047281188.1:p.Met758Thr, XP_047281190.1:p.Met753Thr, XP_047281192.1:p.Met739Thr, XP_047281193.1:p.Met725Thr, XP_047281194.1:p.Met723Thr, XP_047281195.1:p.Met711Thr, XP_047281196.1:p.Met704Thr, XP_047281198.1:p.Met676Thr

                                      19.

                                      rs1469896098 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:114473122 (GRCh38)
                                        10:116232881 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:114473121:T:C
                                        Gene:
                                        ABLIM1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.00005/1 (ALFA)
                                        HGVS:
                                        NC_000010.11:g.114473122T>C, NC_000010.10:g.116232881T>C, NG_029872.2:g.353522A>G, NM_002313.7:c.1130A>G, NM_002313.6:c.1130A>G, NM_002313.5:c.1130A>G, NM_006720.4:c.266A>G, NM_006720.3:c.266A>G, NM_001322884.3:c.899A>G, NM_001322884.2:c.899A>G, NM_001322884.1:c.899A>G, NM_001322885.3:c.899A>G, NM_001322885.2:c.899A>G, NM_001322885.1:c.899A>G, NM_001322886.3:c.899A>G, NM_001322886.2:c.899A>G, NM_001322886.1:c.899A>G, NM_001322882.2:c.1034A>G, NM_001322882.1:c.1034A>G, NM_001003407.2:c.950A>G, NM_001003407.1:c.950A>G, NM_001322883.2:c.950A>G, NM_001322883.1:c.950A>G, NM_001352442.2:c.674A>G, NM_001352442.1:c.674A>G, NM_001322887.2:c.950A>G, NM_001322887.1:c.950A>G, NM_001352443.2:c.182A>G, NM_001352443.1:c.182A>G, NM_001322888.2:c.182A>G, NM_001322888.1:c.182A>G, NM_001322889.2:c.266A>G, NM_001322889.1:c.266A>G, NM_001322891.2:c.182A>G, NM_001322891.1:c.182A>G, NM_001322893.2:c.182A>G, NM_001322893.1:c.182A>G, NM_001322890.2:c.182A>G, NM_001322890.1:c.182A>G, NM_001322892.2:c.182A>G, NM_001322892.1:c.182A>G, NM_001322894.2:c.182A>G, NM_001322894.1:c.182A>G, NM_001322895.2:c.182A>G, NM_001322895.1:c.182A>G, NM_001322896.2:c.104A>G, NM_001322896.1:c.104A>G, NM_001322897.2:c.104A>G, NM_001322897.1:c.104A>G, NM_001322899.2:c.182A>G, NM_001322899.1:c.182A>G, NM_001322898.2:c.182A>G, NM_001322898.1:c.182A>G, NM_001322900.2:c.104A>G, NM_001322900.1:c.104A>G, NM_001352440.1:c.902A>G, NM_001352441.1:c.902A>G, XM_006717846.4:c.266A>G, XM_006717846.3:c.266A>G, XM_006717846.2:c.266A>G, XM_006717846.1:c.266A>G, XM_006717837.3:c.1034A>G, XM_006717837.2:c.1034A>G, XM_006717837.1:c.1034A>G, XM_011539802.3:c.1004A>G, XM_011539802.2:c.1004A>G, XM_011539802.1:c.986A>G, XM_011539801.3:c.758A>G, XM_011539801.2:c.758A>G, XM_011539801.1:c.1073A>G, NM_006719.3:c.674A>G, XM_024448014.2:c.986A>G, XM_024448014.1:c.986A>G, XM_024448016.2:c.902A>G, XM_024448016.1:c.902A>G, XM_024448018.2:c.986A>G, XM_024448018.1:c.986A>G, XM_024448010.2:c.1175A>G, XM_024448010.1:c.758A>G, XM_017016245.2:c.983A>G, XM_017016245.1:c.983A>G, XM_017016256.2:c.902A>G, XM_017016256.1:c.902A>G, XM_017016250.2:c.899A>G, XM_017016250.1:c.899A>G, XM_024448011.2:c.1175A>G, XM_024448011.1:c.758A>G, XM_017016247.2:c.1175A>G, XM_017016247.1:c.758A>G, XM_017016255.2:c.899A>G, XM_017016255.1:c.899A>G, XM_024448013.2:c.674A>G, XM_024448013.1:c.674A>G, NM_006719.2:c.674A>G, XM_047425233.1:c.950A>G, XM_047425243.1:c.950A>G, NM_001003408.1:c.1034A>G, XM_047425229.1:c.1175A>G, XM_047425231.1:c.1091A>G, XM_047425232.1:c.1091A>G, XM_047425234.1:c.1175A>G, XM_047425236.1:c.1175A>G, XM_047425237.1:c.1091A>G, XM_047425238.1:c.1091A>G, XM_047425239.1:c.1091A>G, XM_047425240.1:c.1175A>G, XM_047425242.1:c.1091A>G, XM_047425246.1:c.902A>G, XM_047425244.1:c.1175A>G, XM_047425245.1:c.1091A>G, NP_002304.3:p.Asp377Gly, NP_006711.3:p.Asp89Gly, NP_001309813.1:p.Asp300Gly, NP_001309814.1:p.Asp300Gly, NP_001309815.1:p.Asp300Gly, NP_001309811.1:p.Asp345Gly, NP_001003407.1:p.Asp317Gly, NP_001309812.1:p.Asp317Gly, NP_001339371.1:p.Asp225Gly, NP_001309816.1:p.Asp317Gly, NP_001339372.1:p.Asp61Gly, NP_001309817.1:p.Asp61Gly, NP_001309818.1:p.Asp89Gly, NP_001309820.1:p.Asp61Gly, NP_001309822.1:p.Asp61Gly, NP_001309819.1:p.Asp61Gly, NP_001309821.1:p.Asp61Gly, NP_001309823.1:p.Asp61Gly, NP_001309824.1:p.Asp61Gly, NP_001309825.1:p.Asp35Gly, NP_001309826.1:p.Asp35Gly, NP_001309828.1:p.Asp61Gly, NP_001309827.1:p.Asp61Gly, NP_001309829.1:p.Asp35Gly, NP_001339369.1:p.Asp301Gly, NP_001339370.1:p.Asp301Gly, XP_006717909.1:p.Asp89Gly, XP_006717900.1:p.Asp345Gly, XP_011538104.2:p.Asp335Gly, XP_011538103.2:p.Asp253Gly, XP_024303782.1:p.Asp329Gly, XP_024303784.1:p.Asp301Gly, XP_024303786.1:p.Asp329Gly, XP_024303778.2:p.Asp392Gly, XP_016871734.1:p.Asp328Gly, XP_016871745.1:p.Asp301Gly, XP_016871739.1:p.Asp300Gly, XP_024303779.2:p.Asp392Gly, XP_016871736.2:p.Asp392Gly, XP_016871744.1:p.Asp300Gly, XP_024303781.1:p.Asp225Gly, XP_047281189.1:p.Asp317Gly, XP_047281199.1:p.Asp317Gly, XP_047281185.1:p.Asp392Gly, XP_047281187.1:p.Asp364Gly, XP_047281188.1:p.Asp364Gly, XP_047281190.1:p.Asp392Gly, XP_047281192.1:p.Asp392Gly, XP_047281193.1:p.Asp364Gly, XP_047281194.1:p.Asp364Gly, XP_047281195.1:p.Asp364Gly, XP_047281196.1:p.Asp392Gly, XP_047281198.1:p.Asp364Gly, XP_047281202.1:p.Asp301Gly, XP_047281200.1:p.Asp392Gly, XP_047281201.1:p.Asp364Gly

                                        20.

                                        rs1466365408 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          10:114684299 (GRCh38)
                                          10:116444058 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:114684298:C:G,NC_000010.11:114684298:C:T
                                          Gene:
                                          ABLIM1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.114684299C>G, NC_000010.11:g.114684299C>T, NC_000010.10:g.116444058C>G, NC_000010.10:g.116444058C>T, NG_029872.2:g.142345G>C, NG_029872.2:g.142345G>A, NM_001322882.2:c.55G>C, NM_001322882.2:c.55G>A, NM_001322882.1:c.55G>C, NM_001322882.1:c.55G>A, NM_001003407.2:c.55G>C, NM_001003407.2:c.55G>A, NM_001003407.1:c.55G>C, NM_001003407.1:c.55G>A, NM_001322883.2:c.55G>C, NM_001322883.2:c.55G>A, NM_001322883.1:c.55G>C, NM_001322883.1:c.55G>A, NM_001322887.2:c.55G>C, NM_001322887.2:c.55G>A, NM_001322887.1:c.55G>C, NM_001322887.1:c.55G>A, XM_006717837.3:c.55G>C, XM_006717837.3:c.55G>A, XM_006717837.2:c.55G>C, XM_006717837.2:c.55G>A, XM_006717837.1:c.55G>C, XM_006717837.1:c.55G>A, XM_047425233.1:c.55G>C, XM_047425233.1:c.55G>A, XM_047425243.1:c.55G>C, XM_047425243.1:c.55G>A, NM_001003408.1:c.55G>C, NM_001003408.1:c.55G>A, NP_001309811.1:p.Asp19His, NP_001309811.1:p.Asp19Asn, NP_001003407.1:p.Asp19His, NP_001003407.1:p.Asp19Asn, NP_001309812.1:p.Asp19His, NP_001309812.1:p.Asp19Asn, NP_001309816.1:p.Asp19His, NP_001309816.1:p.Asp19Asn, XP_006717900.1:p.Asp19His, XP_006717900.1:p.Asp19Asn, XP_047281189.1:p.Asp19His, XP_047281189.1:p.Asp19Asn, XP_047281199.1:p.Asp19His, XP_047281199.1:p.Asp19Asn

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