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1.

rs1490141530 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    22:31874284 (GRCh38)
    22:32270270 (GRCh37)
    Canonical SPDI:
    NC_000022.11:31874283:A:G
    Gene:
    DEPDC5 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000022.11:g.31874284A>G, NC_000022.10:g.32270270A>G, NG_034067.1:g.125334A>G, NM_014662.6:c.3482A>G, NM_014662.5:c.3482A>G, NM_014662.4:c.3482A>G, NM_014662.3:c.3482A>G, NM_001136029.4:c.3548A>G, NM_001136029.3:c.3548A>G, NM_001136029.2:c.3548A>G, NM_001242896.3:c.3575A>G, NM_001242896.2:c.3575A>G, NM_001242896.1:c.3575A>G, NM_001364320.2:c.3509A>G, NM_001364320.1:c.3509A>G, NM_001364318.2:c.3575A>G, NM_001364318.1:c.3575A>G, NM_001364319.2:c.3341A>G, NM_001364319.1:c.3341A>G, NR_157125.2:n.3472A>G, NR_157125.1:n.3472A>G, NR_146296.2:n.3747A>G, NR_146296.1:n.3764A>G, NM_001363852.2:c.3509A>G, NM_001363852.1:c.3509A>G, NM_001363854.2:c.3341A>G, NM_001363854.1:c.3341A>G, NR_110988.2:n.3481A>G, NR_110988.1:n.3477A>G, NM_001242897.2:c.3275A>G, NM_001242897.1:c.3275A>G, NM_001369901.1:c.3491A>G, NM_001369903.1:c.3482A>G, NR_157128.1:n.3715A>G, NM_001369902.1:c.3491A>G, XM_011530557.3:c.3548A>G, XM_011530557.2:c.3548A>G, XM_011530557.1:c.3548A>G, XM_011530562.3:c.3575A>G, XM_011530562.2:c.3575A>G, XM_011530562.1:c.3575A>G, XM_011530561.3:c.3314A>G, XM_011530561.2:c.3314A>G, XM_011530561.1:c.3314A>G, XM_011530563.3:c.3275A>G, XM_011530563.2:c.3275A>G, XM_011530563.1:c.3275A>G, XM_011530569.3:c.1469A>G, XM_011530569.2:c.1469A>G, XM_011530569.1:c.1469A>G, XM_011530565.3:c.3575A>G, XM_011530565.2:c.3575A>G, XM_011530565.1:c.3575A>G, XM_024452305.2:c.1442A>G, XM_024452305.1:c.1442A>G, XM_047441628.1:c.3482A>G, XM_047441626.1:c.3248A>G, XM_047441625.1:c.3314A>G, XM_047441629.1:c.3341A>G, XM_047441627.1:c.3248A>G, XM_047441630.1:c.3248A>G, XM_047441632.1:c.2582A>G, XR_007067997.1:n.3781A>G, XM_047441631.1:c.3575A>G, XM_047441633.1:c.3341A>G, XM_047441634.1:c.*61A>G, NP_055477.1:p.Gln1161Arg, NP_001129501.1:p.Gln1183Arg, NP_001229825.1:p.Gln1192Arg, NP_001351249.1:p.Gln1170Arg, NP_001351247.1:p.Gln1192Arg, NP_001351248.1:p.Gln1114Arg, NP_001350781.1:p.Gln1170Arg, NP_001350783.1:p.Gln1114Arg, NP_001229826.1:p.Gln1092Arg, NP_001356830.1:p.Gln1164Arg, NP_001356832.1:p.Gln1161Arg, NP_001356831.1:p.Gln1164Arg, XP_011528859.1:p.Gln1183Arg, XP_011528864.1:p.Gln1192Arg, XP_011528863.1:p.Gln1105Arg, XP_011528865.1:p.Gln1092Arg, XP_011528871.1:p.Gln490Arg, XP_011528867.1:p.Gln1192Arg, XP_024308073.1:p.Gln481Arg, XP_047297584.1:p.Gln1161Arg, XP_047297582.1:p.Gln1083Arg, XP_047297581.1:p.Gln1105Arg, XP_047297585.1:p.Gln1114Arg, XP_047297583.1:p.Gln1083Arg, XP_047297586.1:p.Gln1083Arg, XP_047297588.1:p.Gln861Arg, XP_047297587.1:p.Gln1192Arg, XP_047297589.1:p.Gln1114Arg

    2.

    rs1489676591 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      22:31876253 (GRCh38)
      22:32272239 (GRCh37)
      Canonical SPDI:
      NC_000022.11:31876252:G:A
      Gene:
      DEPDC5 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000022.11:g.31876253G>A, NC_000022.10:g.32272239G>A, NG_034067.1:g.127303G>A, NM_014662.6:c.3700G>A, NM_014662.5:c.3700G>A, NM_014662.4:c.3700G>A, NM_014662.3:c.3700G>A, NM_001136029.4:c.3766G>A, NM_001136029.3:c.3766G>A, NM_001136029.2:c.3766G>A, NM_001242896.3:c.3793G>A, NM_001242896.2:c.3793G>A, NM_001242896.1:c.3793G>A, NM_001364320.2:c.3727G>A, NM_001364320.1:c.3727G>A, NM_001364318.2:c.3793G>A, NM_001364318.1:c.3793G>A, NM_001364319.2:c.3559G>A, NM_001364319.1:c.3559G>A, NR_157125.2:n.3690G>A, NR_157125.1:n.3690G>A, NR_146296.2:n.3965G>A, NR_146296.1:n.3982G>A, NM_001363852.2:c.3727G>A, NM_001363852.1:c.3727G>A, NM_001363854.2:c.3559G>A, NM_001363854.1:c.3559G>A, NM_001242897.2:c.3493G>A, NM_001242897.1:c.3493G>A, NM_001369901.1:c.3709G>A, NM_001369903.1:c.3700G>A, NM_001369902.1:c.3709G>A, XM_011530557.3:c.3766G>A, XM_011530557.2:c.3766G>A, XM_011530557.1:c.3766G>A, XM_011530562.3:c.3793G>A, XM_011530562.2:c.3793G>A, XM_011530562.1:c.3793G>A, XM_011530561.3:c.3532G>A, XM_011530561.2:c.3532G>A, XM_011530561.1:c.3532G>A, XM_011530563.3:c.3493G>A, XM_011530563.2:c.3493G>A, XM_011530563.1:c.3493G>A, XM_011530569.3:c.1687G>A, XM_011530569.2:c.1687G>A, XM_011530569.1:c.1687G>A, XM_024452305.2:c.1660G>A, XM_024452305.1:c.1660G>A, XM_047441628.1:c.3700G>A, XM_047441626.1:c.3466G>A, XM_047441625.1:c.3532G>A, XM_047441629.1:c.3559G>A, XM_047441627.1:c.3466G>A, XM_047441630.1:c.3466G>A, XM_047441632.1:c.2800G>A, XR_007067997.1:n.3999G>A, XM_047441631.1:c.3863G>A, NP_055477.1:p.Glu1234Lys, NP_001129501.1:p.Glu1256Lys, NP_001229825.1:p.Glu1265Lys, NP_001351249.1:p.Glu1243Lys, NP_001351247.1:p.Glu1265Lys, NP_001351248.1:p.Glu1187Lys, NP_001350781.1:p.Glu1243Lys, NP_001350783.1:p.Glu1187Lys, NP_001229826.1:p.Glu1165Lys, NP_001356830.1:p.Glu1237Lys, NP_001356832.1:p.Glu1234Lys, NP_001356831.1:p.Glu1237Lys, XP_011528859.1:p.Glu1256Lys, XP_011528864.1:p.Glu1265Lys, XP_011528863.1:p.Glu1178Lys, XP_011528865.1:p.Glu1165Lys, XP_011528871.1:p.Glu563Lys, XP_024308073.1:p.Glu554Lys, XP_047297584.1:p.Glu1234Lys, XP_047297582.1:p.Glu1156Lys, XP_047297581.1:p.Glu1178Lys, XP_047297585.1:p.Glu1187Lys, XP_047297583.1:p.Glu1156Lys, XP_047297586.1:p.Glu1156Lys, XP_047297588.1:p.Glu934Lys, XP_047297587.1:p.Arg1288Lys

      3.

      rs1489170079 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        22:31906470 (GRCh38)
        22:32302456 (GRCh37)
        Canonical SPDI:
        NC_000022.11:31906469:G:A,NC_000022.11:31906469:G:T
        Gene:
        DEPDC5 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000022.11:g.31906470G>A, NC_000022.11:g.31906470G>T, NC_000022.10:g.32302456G>A, NC_000022.10:g.32302456G>T, NG_034067.1:g.157520G>A, NG_034067.1:g.157520G>T, NM_014662.6:c.4692G>A, NM_014662.6:c.4692G>T, NM_014662.5:c.4692G>A, NM_014662.5:c.4692G>T, NM_014662.4:c.4692G>A, NM_014662.4:c.4692G>T, NM_014662.3:c.4692G>A, NM_014662.3:c.4692G>T, NM_001136029.4:c.4758G>A, NM_001136029.4:c.4758G>T, NM_001136029.3:c.4758G>A, NM_001136029.3:c.4758G>T, NM_001136029.2:c.4758G>A, NM_001136029.2:c.4758G>T, NM_001242896.3:c.4785G>A, NM_001242896.3:c.4785G>T, NM_001242896.2:c.4785G>A, NM_001242896.2:c.4785G>T, NM_001242896.1:c.4785G>A, NM_001242896.1:c.4785G>T, NM_001364320.2:c.4719G>A, NM_001364320.2:c.4719G>T, NM_001364320.1:c.4719G>A, NM_001364320.1:c.4719G>T, NM_001364318.2:c.4785G>A, NM_001364318.2:c.4785G>T, NM_001364318.1:c.4785G>A, NM_001364318.1:c.4785G>T, NM_001364319.2:c.4551G>A, NM_001364319.2:c.4551G>T, NM_001364319.1:c.4551G>A, NM_001364319.1:c.4551G>T, NR_157125.2:n.4682G>A, NR_157125.2:n.4682G>T, NR_157125.1:n.4682G>A, NR_157125.1:n.4682G>T, NR_157126.2:n.4554G>A, NR_157126.2:n.4554G>T, NR_157126.1:n.4554G>A, NR_157126.1:n.4554G>T, NR_146296.2:n.4957G>A, NR_146296.2:n.4957G>T, NR_146296.1:n.4974G>A, NR_146296.1:n.4974G>T, NM_001363852.2:c.4719G>A, NM_001363852.2:c.4719G>T, NM_001363852.1:c.4719G>A, NM_001363852.1:c.4719G>T, NM_001363854.2:c.4551G>A, NM_001363854.2:c.4551G>T, NM_001363854.1:c.4551G>A, NM_001363854.1:c.4551G>T, NR_110988.2:n.4582G>A, NR_110988.2:n.4582G>T, NR_110988.1:n.4578G>A, NR_110988.1:n.4578G>T, NM_001242897.2:c.4485G>A, NM_001242897.2:c.4485G>T, NM_001242897.1:c.4485G>A, NM_001242897.1:c.4485G>T, NM_001369901.1:c.4701G>A, NM_001369901.1:c.4701G>T, NM_001369903.1:c.4692G>A, NM_001369903.1:c.4692G>T, NR_157128.1:n.4816G>A, NR_157128.1:n.4816G>T, NM_001369902.1:c.4701G>A, NM_001369902.1:c.4701G>T, XM_011530557.3:c.4758G>A, XM_011530557.3:c.4758G>T, XM_011530557.2:c.4758G>A, XM_011530557.2:c.4758G>T, XM_011530557.1:c.4758G>A, XM_011530557.1:c.4758G>T, XM_011530562.3:c.*65G>A, XM_011530562.3:c.*65G>T, XM_011530562.2:c.*65G>A, XM_011530562.2:c.*65G>T, XM_011530562.1:c.*65G>A, XM_011530562.1:c.*65G>T, XM_011530561.3:c.4524G>A, XM_011530561.3:c.4524G>T, XM_011530561.2:c.4524G>A, XM_011530561.2:c.4524G>T, XM_011530561.1:c.4524G>A, XM_011530561.1:c.4524G>T, XM_011530563.3:c.4485G>A, XM_011530563.3:c.4485G>T, XM_011530563.2:c.4485G>A, XM_011530563.2:c.4485G>T, XM_011530563.1:c.4485G>A, XM_011530563.1:c.4485G>T, XM_011530569.3:c.2679G>A, XM_011530569.3:c.2679G>T, XM_011530569.2:c.2679G>A, XM_011530569.2:c.2679G>T, XM_011530569.1:c.2679G>A, XM_011530569.1:c.2679G>T, XM_024452305.2:c.2652G>A, XM_024452305.2:c.2652G>T, XM_024452305.1:c.2652G>A, XM_024452305.1:c.2652G>T, XM_047441628.1:c.*65G>A, XM_047441628.1:c.*65G>T, XM_047441626.1:c.4458G>A, XM_047441626.1:c.4458G>T, XM_047441625.1:c.4524G>A, XM_047441625.1:c.4524G>T, XM_047441629.1:c.*65G>A, XM_047441629.1:c.*65G>T, XM_047441627.1:c.4458G>A, XM_047441627.1:c.4458G>T, XM_047441630.1:c.*65G>A, XM_047441630.1:c.*65G>T, XM_047441632.1:c.3792G>A, XM_047441632.1:c.3792G>T

        4.

        rs1489128901 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          22:31778122 (GRCh38)
          22:32174108 (GRCh37)
          Canonical SPDI:
          NC_000022.11:31778121:T:G
          Gene:
          DEPDC5 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.0027/5 (Korea1K)
          HGVS:
          NC_000022.11:g.31778122T>G, NC_000022.10:g.32174108T>G, NG_034067.1:g.29172T>G, NM_014662.6:c.437T>G, NM_014662.5:c.437T>G, NM_014662.4:c.437T>G, NM_014662.3:c.437T>G, NM_001136029.4:c.437T>G, NM_001136029.3:c.437T>G, NM_001136029.2:c.437T>G, NM_001007188.4:c.437T>G, NM_001007188.3:c.437T>G, NM_001007188.2:c.437T>G, NM_001242896.3:c.437T>G, NM_001242896.2:c.437T>G, NM_001242896.1:c.437T>G, NM_001364320.2:c.437T>G, NM_001364320.1:c.437T>G, NM_001364318.2:c.437T>G, NM_001364318.1:c.437T>G, NM_001364319.2:c.437T>G, NM_001364319.1:c.437T>G, NR_157125.2:n.526T>G, NR_157125.1:n.526T>G, NR_157126.2:n.526T>G, NR_157126.1:n.526T>G, NR_146296.2:n.526T>G, NR_146296.1:n.543T>G, NM_001363852.2:c.437T>G, NM_001363852.1:c.437T>G, NM_001363854.2:c.437T>G, NM_001363854.1:c.437T>G, NR_110988.2:n.643T>G, NR_110988.1:n.639T>G, NM_001242897.2:c.437T>G, NM_001242897.1:c.437T>G, NM_001369901.1:c.353T>G, NM_001369903.1:c.437T>G, NR_157128.1:n.643T>G, NM_001369902.1:c.353T>G, XM_011530557.3:c.437T>G, XM_011530557.2:c.437T>G, XM_011530557.1:c.437T>G, XM_011530562.3:c.437T>G, XM_011530562.2:c.437T>G, XM_011530562.1:c.437T>G, XM_011530561.3:c.437T>G, XM_011530561.2:c.437T>G, XM_011530561.1:c.437T>G, XM_011530563.3:c.437T>G, XM_011530563.2:c.437T>G, XM_011530563.1:c.437T>G, XM_011530565.3:c.437T>G, XM_011530565.2:c.437T>G, XM_011530565.1:c.437T>G, XM_017029113.2:c.437T>G, XM_017029113.1:c.437T>G, XM_017029114.2:c.437T>G, XM_017029114.1:c.437T>G, XM_047441628.1:c.437T>G, XM_047441626.1:c.437T>G, XM_047441625.1:c.437T>G, XM_047441629.1:c.437T>G, XM_047441627.1:c.437T>G, XM_047441630.1:c.437T>G, XR_007067997.1:n.643T>G, XM_047441631.1:c.437T>G, XM_047441633.1:c.437T>G, XM_047441634.1:c.437T>G, XM_047441635.1:c.437T>G, XM_047441636.1:c.437T>G, XM_047441637.1:c.437T>G, NP_055477.1:p.Val146Gly, NP_001129501.1:p.Val146Gly, NP_001007189.1:p.Val146Gly, NP_001229825.1:p.Val146Gly, NP_001351249.1:p.Val146Gly, NP_001351247.1:p.Val146Gly, NP_001351248.1:p.Val146Gly, NP_001350781.1:p.Val146Gly, NP_001350783.1:p.Val146Gly, NP_001229826.1:p.Val146Gly, NP_001356830.1:p.Val118Gly, NP_001356832.1:p.Val146Gly, NP_001356831.1:p.Val118Gly, XP_011528859.1:p.Val146Gly, XP_011528864.1:p.Val146Gly, XP_011528863.1:p.Val146Gly, XP_011528865.1:p.Val146Gly, XP_011528867.1:p.Val146Gly, XP_016884602.1:p.Val146Gly, XP_016884603.1:p.Val146Gly, XP_047297584.1:p.Val146Gly, XP_047297582.1:p.Val146Gly, XP_047297581.1:p.Val146Gly, XP_047297585.1:p.Val146Gly, XP_047297583.1:p.Val146Gly, XP_047297586.1:p.Val146Gly, XP_047297587.1:p.Val146Gly, XP_047297589.1:p.Val146Gly, XP_047297590.1:p.Val146Gly, XP_047297591.1:p.Val146Gly, XP_047297592.1:p.Val146Gly, XP_047297593.1:p.Val146Gly

          5.

          rs1487780320 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            22:31906294 (GRCh38)
            22:32302280 (GRCh37)
            Canonical SPDI:
            NC_000022.11:31906293:A:C
            Gene:
            DEPDC5 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_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)
            C=0.000354/6 (TOMMO)
            HGVS:
            NC_000022.11:g.31906294A>C, NC_000022.10:g.32302280A>C, NG_034067.1:g.157344A>C, NM_014662.6:c.4516A>C, NM_014662.5:c.4516A>C, NM_014662.4:c.4516A>C, NM_014662.3:c.4516A>C, NM_001136029.4:c.4582A>C, NM_001136029.3:c.4582A>C, NM_001136029.2:c.4582A>C, NM_001242896.3:c.4609A>C, NM_001242896.2:c.4609A>C, NM_001242896.1:c.4609A>C, NM_001364320.2:c.4543A>C, NM_001364320.1:c.4543A>C, NM_001364318.2:c.4609A>C, NM_001364318.1:c.4609A>C, NM_001364319.2:c.4375A>C, NM_001364319.1:c.4375A>C, NR_157125.2:n.4506A>C, NR_157125.1:n.4506A>C, NR_157126.2:n.4378A>C, NR_157126.1:n.4378A>C, NR_146296.2:n.4781A>C, NR_146296.1:n.4798A>C, NM_001363852.2:c.4543A>C, NM_001363852.1:c.4543A>C, NM_001363854.2:c.4375A>C, NM_001363854.1:c.4375A>C, NR_110988.2:n.4406A>C, NR_110988.1:n.4402A>C, NM_001242897.2:c.4309A>C, NM_001242897.1:c.4309A>C, NM_001369901.1:c.4525A>C, NM_001369903.1:c.4516A>C, NR_157128.1:n.4640A>C, NM_001369902.1:c.4525A>C, XM_011530557.3:c.4582A>C, XM_011530557.2:c.4582A>C, XM_011530557.1:c.4582A>C, XM_011530562.3:c.4437A>C, XM_011530562.2:c.4437A>C, XM_011530562.1:c.4437A>C, XM_011530561.3:c.4348A>C, XM_011530561.2:c.4348A>C, XM_011530561.1:c.4348A>C, XM_011530563.3:c.4309A>C, XM_011530563.2:c.4309A>C, XM_011530563.1:c.4309A>C, XM_011530569.3:c.2503A>C, XM_011530569.2:c.2503A>C, XM_011530569.1:c.2503A>C, XM_024452305.2:c.2476A>C, XM_024452305.1:c.2476A>C, XM_047441628.1:c.4344A>C, XM_047441626.1:c.4282A>C, XM_047441625.1:c.4348A>C, XM_047441629.1:c.4203A>C, XM_047441627.1:c.4282A>C, XM_047441630.1:c.4110A>C, XM_047441632.1:c.3616A>C, NP_055477.1:p.Asn1506His, NP_001129501.1:p.Asn1528His, NP_001229825.1:p.Asn1537His, NP_001351249.1:p.Asn1515His, NP_001351247.1:p.Asn1537His, NP_001351248.1:p.Asn1459His, NP_001350781.1:p.Asn1515His, NP_001350783.1:p.Asn1459His, NP_001229826.1:p.Asn1437His, NP_001356830.1:p.Asn1509His, NP_001356832.1:p.Asn1506His, NP_001356831.1:p.Asn1509His, XP_011528859.1:p.Asn1528His, XP_011528864.1:p.Arg1479Ser, XP_011528863.1:p.Asn1450His, XP_011528865.1:p.Asn1437His, XP_011528871.1:p.Asn835His, XP_024308073.1:p.Asn826His, XP_047297584.1:p.Arg1448Ser, XP_047297582.1:p.Asn1428His, XP_047297581.1:p.Asn1450His, XP_047297585.1:p.Arg1401Ser, XP_047297583.1:p.Asn1428His, XP_047297586.1:p.Arg1370Ser, XP_047297588.1:p.Asn1206His

            6.

            rs1486987288 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:31838760 (GRCh38)
              22:32234746 (GRCh37)
              Canonical SPDI:
              NC_000022.11:31838759:C:T
              Gene:
              DEPDC5 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000022.11:g.31838760C>T, NC_000022.10:g.32234746C>T, NG_034067.1:g.89810C>T, NM_014662.6:c.2403C>T, NM_014662.5:c.2403C>T, NM_014662.4:c.2403C>T, NM_014662.3:c.2403C>T, NM_001136029.4:c.2403C>T, NM_001136029.3:c.2403C>T, NM_001136029.2:c.2403C>T, NM_001242896.3:c.2430C>T, NM_001242896.2:c.2430C>T, NM_001242896.1:c.2430C>T, NM_001364320.2:c.2430C>T, NM_001364320.1:c.2430C>T, NM_001364318.2:c.2430C>T, NM_001364318.1:c.2430C>T, NM_001364319.2:c.2196C>T, NM_001364319.1:c.2196C>T, NR_157125.2:n.2393C>T, NR_157125.1:n.2393C>T, NR_157126.2:n.2519C>T, NR_157126.1:n.2519C>T, NR_146296.2:n.2519C>T, NR_146296.1:n.2536C>T, NM_001363852.2:c.2430C>T, NM_001363852.1:c.2430C>T, NM_001363854.2:c.2196C>T, NM_001363854.1:c.2196C>T, NR_110988.2:n.2402C>T, NR_110988.1:n.2398C>T, NM_001242897.2:c.2196C>T, NM_001242897.1:c.2196C>T, NM_001369901.1:c.2346C>T, NM_001369903.1:c.2403C>T, NR_157128.1:n.2636C>T, NM_001369902.1:c.2346C>T, XM_011530557.3:c.2403C>T, XM_011530557.2:c.2403C>T, XM_011530557.1:c.2403C>T, XM_011530562.3:c.2430C>T, XM_011530562.2:c.2430C>T, XM_011530562.1:c.2430C>T, XM_011530561.3:c.2169C>T, XM_011530561.2:c.2169C>T, XM_011530561.1:c.2169C>T, XM_011530563.3:c.2196C>T, XM_011530563.2:c.2196C>T, XM_011530563.1:c.2196C>T, XM_011530569.3:c.324C>T, XM_011530569.2:c.324C>T, XM_011530569.1:c.324C>T, XM_011530565.3:c.2430C>T, XM_011530565.2:c.2430C>T, XM_011530565.1:c.2430C>T, XM_024452305.2:c.297C>T, XM_024452305.1:c.297C>T, XM_017029113.2:c.*124C>T, XM_017029113.1:c.*124C>T, XM_047441628.1:c.2403C>T, XM_047441626.1:c.2169C>T, XM_047441625.1:c.2169C>T, XM_047441629.1:c.2196C>T, XM_047441627.1:c.2169C>T, XM_047441630.1:c.2169C>T, XM_047441632.1:c.1437C>T, XR_007067997.1:n.2636C>T, XM_047441631.1:c.2430C>T, XM_047441633.1:c.2196C>T, XM_047441634.1:c.2430C>T, XM_047441635.1:c.2430C>T, XM_047441636.1:c.2403C>T, XM_047441637.1:c.*124C>T

              7.

              rs1486633691 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:31838843 (GRCh38)
                22:32234829 (GRCh37)
                Canonical SPDI:
                NC_000022.11:31838842:G:A
                Gene:
                DEPDC5 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                A=0.000011/3 (TOPMED)
                HGVS:
                NC_000022.11:g.31838843G>A, NC_000022.10:g.32234829G>A, NG_034067.1:g.89893G>A, NM_014662.6:c.2486G>A, NM_014662.5:c.2486G>A, NM_014662.4:c.2486G>A, NM_014662.3:c.2486G>A, NM_001136029.4:c.2486G>A, NM_001136029.3:c.2486G>A, NM_001136029.2:c.2486G>A, NM_001242896.3:c.2513G>A, NM_001242896.2:c.2513G>A, NM_001242896.1:c.2513G>A, NM_001364320.2:c.2513G>A, NM_001364320.1:c.2513G>A, NM_001364318.2:c.2513G>A, NM_001364318.1:c.2513G>A, NM_001364319.2:c.2279G>A, NM_001364319.1:c.2279G>A, NR_157125.2:n.2476G>A, NR_157125.1:n.2476G>A, NR_157126.2:n.2602G>A, NR_157126.1:n.2602G>A, NR_146296.2:n.2602G>A, NR_146296.1:n.2619G>A, NM_001363852.2:c.2513G>A, NM_001363852.1:c.2513G>A, NM_001363854.2:c.2279G>A, NM_001363854.1:c.2279G>A, NR_110988.2:n.2485G>A, NR_110988.1:n.2481G>A, NM_001242897.2:c.2279G>A, NM_001242897.1:c.2279G>A, NM_001369901.1:c.2429G>A, NM_001369903.1:c.2486G>A, NR_157128.1:n.2719G>A, NM_001369902.1:c.2429G>A, XM_011530557.3:c.2486G>A, XM_011530557.2:c.2486G>A, XM_011530557.1:c.2486G>A, XM_011530562.3:c.2513G>A, XM_011530562.2:c.2513G>A, XM_011530562.1:c.2513G>A, XM_011530561.3:c.2252G>A, XM_011530561.2:c.2252G>A, XM_011530561.1:c.2252G>A, XM_011530563.3:c.2279G>A, XM_011530563.2:c.2279G>A, XM_011530563.1:c.2279G>A, XM_011530569.3:c.407G>A, XM_011530569.2:c.407G>A, XM_011530569.1:c.407G>A, XM_011530565.3:c.2513G>A, XM_011530565.2:c.2513G>A, XM_011530565.1:c.2513G>A, XM_024452305.2:c.380G>A, XM_024452305.1:c.380G>A, XM_047441628.1:c.2486G>A, XM_047441626.1:c.2252G>A, XM_047441625.1:c.2252G>A, XM_047441629.1:c.2279G>A, XM_047441627.1:c.2252G>A, XM_047441630.1:c.2252G>A, XM_047441632.1:c.1520G>A, XR_007067997.1:n.2719G>A, XM_047441631.1:c.2513G>A, XM_047441633.1:c.2279G>A, XM_047441634.1:c.2513G>A, XM_047441635.1:c.2513G>A, XM_047441636.1:c.2486G>A, NP_055477.1:p.Arg829Gln, NP_001129501.1:p.Arg829Gln, NP_001229825.1:p.Arg838Gln, NP_001351249.1:p.Arg838Gln, NP_001351247.1:p.Arg838Gln, NP_001351248.1:p.Arg760Gln, NP_001350781.1:p.Arg838Gln, NP_001350783.1:p.Arg760Gln, NP_001229826.1:p.Arg760Gln, NP_001356830.1:p.Arg810Gln, NP_001356832.1:p.Arg829Gln, NP_001356831.1:p.Arg810Gln, XP_011528859.1:p.Arg829Gln, XP_011528864.1:p.Arg838Gln, XP_011528863.1:p.Arg751Gln, XP_011528865.1:p.Arg760Gln, XP_011528871.1:p.Arg136Gln, XP_011528867.1:p.Arg838Gln, XP_024308073.1:p.Arg127Gln, XP_047297584.1:p.Arg829Gln, XP_047297582.1:p.Arg751Gln, XP_047297581.1:p.Arg751Gln, XP_047297585.1:p.Arg760Gln, XP_047297583.1:p.Arg751Gln, XP_047297586.1:p.Arg751Gln, XP_047297588.1:p.Arg507Gln, XP_047297587.1:p.Arg838Gln, XP_047297589.1:p.Arg760Gln, XP_047297590.1:p.Arg838Gln, XP_047297591.1:p.Arg838Gln, XP_047297592.1:p.Arg829Gln

                8.

                rs1486478693 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  22:31819224 (GRCh38)
                  22:32215210 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:31819223:G:A
                  Gene:
                  DEPDC5 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.31819224G>A, NC_000022.10:g.32215210G>A, NG_034067.1:g.70274G>A, NM_014662.6:c.1869G>A, NM_014662.5:c.1869G>A, NM_014662.4:c.1869G>A, NM_014662.3:c.1869G>A, NM_001136029.4:c.1869G>A, NM_001136029.3:c.1869G>A, NM_001136029.2:c.1869G>A, NM_001242896.3:c.1869G>A, NM_001242896.2:c.1869G>A, NM_001242896.1:c.1869G>A, NM_001364320.2:c.1869G>A, NM_001364320.1:c.1869G>A, NM_001364318.2:c.1869G>A, NM_001364318.1:c.1869G>A, NM_001364319.2:c.1869G>A, NM_001364319.1:c.1869G>A, NR_157125.2:n.1954G>A, NR_157125.1:n.1954G>A, NR_157126.2:n.1958G>A, NR_157126.1:n.1958G>A, NR_146296.2:n.1958G>A, NR_146296.1:n.1975G>A, NM_001363852.2:c.1869G>A, NM_001363852.1:c.1869G>A, NM_001363854.2:c.1869G>A, NM_001363854.1:c.1869G>A, NR_110988.2:n.2075G>A, NR_110988.1:n.2071G>A, NM_001242897.2:c.1869G>A, NM_001242897.1:c.1869G>A, NM_001369901.1:c.1785G>A, NM_001369903.1:c.1869G>A, NR_157128.1:n.2075G>A, NM_001369902.1:c.1785G>A, XM_011530557.3:c.1869G>A, XM_011530557.2:c.1869G>A, XM_011530557.1:c.1869G>A, XM_011530562.3:c.1869G>A, XM_011530562.2:c.1869G>A, XM_011530562.1:c.1869G>A, XM_011530561.3:c.1869G>A, XM_011530561.2:c.1869G>A, XM_011530561.1:c.1869G>A, XM_011530563.3:c.1869G>A, XM_011530563.2:c.1869G>A, XM_011530563.1:c.1869G>A, XM_011530565.3:c.1869G>A, XM_011530565.2:c.1869G>A, XM_011530565.1:c.1869G>A, XM_017029113.2:c.1869G>A, XM_017029113.1:c.1869G>A, XM_017029114.2:c.1869G>A, XM_017029114.1:c.1869G>A, XM_047441628.1:c.1869G>A, XM_047441626.1:c.1869G>A, XM_047441625.1:c.1869G>A, XM_047441629.1:c.1869G>A, XM_047441627.1:c.1869G>A, XM_047441630.1:c.1869G>A, XM_047441632.1:c.876G>A, XR_007067997.1:n.2075G>A, XM_047441631.1:c.1869G>A, XM_047441633.1:c.1869G>A, XM_047441634.1:c.1869G>A, XM_047441635.1:c.1869G>A, XM_047441636.1:c.1869G>A, XM_047441637.1:c.1869G>A

                  9.

                  rs1486446289 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:31809622 (GRCh38)
                    22:32205608 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:31809621:G:A
                    Gene:
                    DEPDC5 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                    HGVS:
                    NC_000022.11:g.31809622G>A, NC_000022.10:g.32205608G>A, NG_034067.1:g.60672G>A, NM_014662.6:c.1299G>A, NM_014662.5:c.1299G>A, NM_014662.4:c.1299G>A, NM_014662.3:c.1299G>A, NM_001136029.4:c.1299G>A, NM_001136029.3:c.1299G>A, NM_001136029.2:c.1299G>A, NM_001007188.4:c.1299G>A, NM_001007188.3:c.1299G>A, NM_001007188.2:c.1299G>A, NM_001242896.3:c.1299G>A, NM_001242896.2:c.1299G>A, NM_001242896.1:c.1299G>A, NM_001364320.2:c.1299G>A, NM_001364320.1:c.1299G>A, NM_001364318.2:c.1299G>A, NM_001364318.1:c.1299G>A, NM_001364319.2:c.1299G>A, NM_001364319.1:c.1299G>A, NR_157125.2:n.1384G>A, NR_157125.1:n.1384G>A, NR_157126.2:n.1388G>A, NR_157126.1:n.1388G>A, NR_146296.2:n.1388G>A, NR_146296.1:n.1405G>A, NM_001363852.2:c.1299G>A, NM_001363852.1:c.1299G>A, NM_001363854.2:c.1299G>A, NM_001363854.1:c.1299G>A, NR_110988.2:n.1505G>A, NR_110988.1:n.1501G>A, NM_001242897.2:c.1299G>A, NM_001242897.1:c.1299G>A, NM_001369901.1:c.1215G>A, NM_001369903.1:c.1299G>A, NR_157128.1:n.1505G>A, NM_001369902.1:c.1215G>A, XM_011530557.3:c.1299G>A, XM_011530557.2:c.1299G>A, XM_011530557.1:c.1299G>A, XM_011530562.3:c.1299G>A, XM_011530562.2:c.1299G>A, XM_011530562.1:c.1299G>A, XM_011530561.3:c.1299G>A, XM_011530561.2:c.1299G>A, XM_011530561.1:c.1299G>A, XM_011530563.3:c.1299G>A, XM_011530563.2:c.1299G>A, XM_011530563.1:c.1299G>A, XM_011530565.3:c.1299G>A, XM_011530565.2:c.1299G>A, XM_011530565.1:c.1299G>A, XM_017029113.2:c.1299G>A, XM_017029113.1:c.1299G>A, XM_017029114.2:c.1299G>A, XM_017029114.1:c.1299G>A, XM_047441628.1:c.1299G>A, XM_047441626.1:c.1299G>A, XM_047441625.1:c.1299G>A, XM_047441629.1:c.1299G>A, XM_047441627.1:c.1299G>A, XM_047441630.1:c.1299G>A, XM_047441632.1:c.306G>A, XR_007067997.1:n.1505G>A, XM_047441631.1:c.1299G>A, XM_047441633.1:c.1299G>A, XM_047441634.1:c.1299G>A, XM_047441635.1:c.1299G>A, XM_047441636.1:c.1299G>A, XM_047441637.1:c.1299G>A

                    10.

                    rs1485949754 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      22:31758567 (GRCh38)
                      22:32154553 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:31758566:C:G,NC_000022.11:31758566:C:T
                      Gene:
                      DEPDC5 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000022.11:g.31758567C>G, NC_000022.11:g.31758567C>T, NC_000022.10:g.32154553C>G, NC_000022.10:g.32154553C>T, NG_034067.1:g.9617C>G, NG_034067.1:g.9617C>T, NM_014662.6:c.80C>G, NM_014662.6:c.80C>T, NM_014662.5:c.80C>G, NM_014662.5:c.80C>T, NM_014662.4:c.80C>G, NM_014662.4:c.80C>T, NM_014662.3:c.80C>G, NM_014662.3:c.80C>T, NM_001136029.4:c.80C>G, NM_001136029.4:c.80C>T, NM_001136029.3:c.80C>G, NM_001136029.3:c.80C>T, NM_001136029.2:c.80C>G, NM_001136029.2:c.80C>T, NM_001007188.4:c.80C>G, NM_001007188.4:c.80C>T, NM_001007188.3:c.80C>G, NM_001007188.3:c.80C>T, NM_001007188.2:c.80C>G, NM_001007188.2:c.80C>T, NM_001242896.3:c.80C>G, NM_001242896.3:c.80C>T, NM_001242896.2:c.80C>G, NM_001242896.2:c.80C>T, NM_001242896.1:c.80C>G, NM_001242896.1:c.80C>T, NM_001364320.2:c.80C>G, NM_001364320.2:c.80C>T, NM_001364320.1:c.80C>G, NM_001364320.1:c.80C>T, NM_001364318.2:c.80C>G, NM_001364318.2:c.80C>T, NM_001364318.1:c.80C>G, NM_001364318.1:c.80C>T, NM_001364319.2:c.80C>G, NM_001364319.2:c.80C>T, NM_001364319.1:c.80C>G, NM_001364319.1:c.80C>T, NR_157125.2:n.169C>G, NR_157125.2:n.169C>T, NR_157125.1:n.169C>G, NR_157125.1:n.169C>T, NR_157126.2:n.169C>G, NR_157126.2:n.169C>T, NR_157126.1:n.169C>G, NR_157126.1:n.169C>T, NR_146296.2:n.169C>G, NR_146296.2:n.169C>T, NR_146296.1:n.186C>G, NR_146296.1:n.186C>T, NM_001363852.2:c.80C>G, NM_001363852.2:c.80C>T, NM_001363852.1:c.80C>G, NM_001363852.1:c.80C>T, NM_001363854.2:c.80C>G, NM_001363854.2:c.80C>T, NM_001363854.1:c.80C>G, NM_001363854.1:c.80C>T, NR_110988.2:n.286C>G, NR_110988.2:n.286C>T, NR_110988.1:n.282C>G, NR_110988.1:n.282C>T, NM_001242897.2:c.80C>G, NM_001242897.2:c.80C>T, NM_001242897.1:c.80C>G, NM_001242897.1:c.80C>T, NM_001369901.1:c.80C>G, NM_001369901.1:c.80C>T, NM_001369903.1:c.80C>G, NM_001369903.1:c.80C>T, NR_157128.1:n.286C>G, NR_157128.1:n.286C>T, NM_001369902.1:c.80C>G, NM_001369902.1:c.80C>T, XM_011530557.3:c.80C>G, XM_011530557.3:c.80C>T, XM_011530557.2:c.80C>G, XM_011530557.2:c.80C>T, XM_011530557.1:c.80C>G, XM_011530557.1:c.80C>T, XM_011530562.3:c.80C>G, XM_011530562.3:c.80C>T, XM_011530562.2:c.80C>G, XM_011530562.2:c.80C>T, XM_011530562.1:c.80C>G, XM_011530562.1:c.80C>T, XM_011530561.3:c.80C>G, XM_011530561.3:c.80C>T, XM_011530561.2:c.80C>G, XM_011530561.2:c.80C>T, XM_011530561.1:c.80C>G, XM_011530561.1:c.80C>T, XM_011530563.3:c.80C>G, XM_011530563.3:c.80C>T, XM_011530563.2:c.80C>G, XM_011530563.2:c.80C>T, XM_011530563.1:c.80C>G, XM_011530563.1:c.80C>T, XM_011530565.3:c.80C>G, XM_011530565.3:c.80C>T, XM_011530565.2:c.80C>G, XM_011530565.2:c.80C>T, XM_011530565.1:c.80C>G, XM_011530565.1:c.80C>T, XM_017029113.2:c.80C>G, XM_017029113.2:c.80C>T, XM_017029113.1:c.80C>G, XM_017029113.1:c.80C>T, XM_017029114.2:c.80C>G, XM_017029114.2:c.80C>T, XM_017029114.1:c.80C>G, XM_017029114.1:c.80C>T, XM_047441628.1:c.80C>G, XM_047441628.1:c.80C>T, XM_047441626.1:c.80C>G, XM_047441626.1:c.80C>T, XM_047441625.1:c.80C>G, XM_047441625.1:c.80C>T, XM_047441629.1:c.80C>G, XM_047441629.1:c.80C>T, XM_047441627.1:c.80C>G, XM_047441627.1:c.80C>T, XM_047441630.1:c.80C>G, XM_047441630.1:c.80C>T, XR_007067997.1:n.286C>G, XR_007067997.1:n.286C>T, XM_047441631.1:c.80C>G, XM_047441631.1:c.80C>T, XM_047441633.1:c.80C>G, XM_047441633.1:c.80C>T, XM_047441634.1:c.80C>G, XM_047441634.1:c.80C>T, XM_047441635.1:c.80C>G, XM_047441635.1:c.80C>T, XM_047441636.1:c.80C>G, XM_047441636.1:c.80C>T, XM_047441637.1:c.80C>G, XM_047441637.1:c.80C>T, NP_055477.1:p.Pro27Arg, NP_055477.1:p.Pro27Leu, NP_001129501.1:p.Pro27Arg, NP_001129501.1:p.Pro27Leu, NP_001007189.1:p.Pro27Arg, NP_001007189.1:p.Pro27Leu, NP_001229825.1:p.Pro27Arg, NP_001229825.1:p.Pro27Leu, NP_001351249.1:p.Pro27Arg, NP_001351249.1:p.Pro27Leu, NP_001351247.1:p.Pro27Arg, NP_001351247.1:p.Pro27Leu, NP_001351248.1:p.Pro27Arg, NP_001351248.1:p.Pro27Leu, NP_001350781.1:p.Pro27Arg, NP_001350781.1:p.Pro27Leu, NP_001350783.1:p.Pro27Arg, NP_001350783.1:p.Pro27Leu, NP_001229826.1:p.Pro27Arg, NP_001229826.1:p.Pro27Leu, NP_001356830.1:p.Pro27Arg, NP_001356830.1:p.Pro27Leu, NP_001356832.1:p.Pro27Arg, NP_001356832.1:p.Pro27Leu, NP_001356831.1:p.Pro27Arg, NP_001356831.1:p.Pro27Leu, XP_011528859.1:p.Pro27Arg, XP_011528859.1:p.Pro27Leu, XP_011528864.1:p.Pro27Arg, XP_011528864.1:p.Pro27Leu, XP_011528863.1:p.Pro27Arg, XP_011528863.1:p.Pro27Leu, XP_011528865.1:p.Pro27Arg, XP_011528865.1:p.Pro27Leu, XP_011528867.1:p.Pro27Arg, XP_011528867.1:p.Pro27Leu, XP_016884602.1:p.Pro27Arg, XP_016884602.1:p.Pro27Leu, XP_016884603.1:p.Pro27Arg, XP_016884603.1:p.Pro27Leu, XP_047297584.1:p.Pro27Arg, XP_047297584.1:p.Pro27Leu, XP_047297582.1:p.Pro27Arg, XP_047297582.1:p.Pro27Leu, XP_047297581.1:p.Pro27Arg, XP_047297581.1:p.Pro27Leu, XP_047297585.1:p.Pro27Arg, XP_047297585.1:p.Pro27Leu, XP_047297583.1:p.Pro27Arg, XP_047297583.1:p.Pro27Leu, XP_047297586.1:p.Pro27Arg, XP_047297586.1:p.Pro27Leu, XP_047297587.1:p.Pro27Arg, XP_047297587.1:p.Pro27Leu, XP_047297589.1:p.Pro27Arg, XP_047297589.1:p.Pro27Leu, XP_047297590.1:p.Pro27Arg, XP_047297590.1:p.Pro27Leu, XP_047297591.1:p.Pro27Arg, XP_047297591.1:p.Pro27Leu, XP_047297592.1:p.Pro27Arg, XP_047297592.1:p.Pro27Leu, XP_047297593.1:p.Pro27Arg, XP_047297593.1:p.Pro27Leu

                      11.

                      rs1484498248 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        22:31906353 (GRCh38)
                        22:32302339 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:31906352:A:G
                        Gene:
                        DEPDC5 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000047/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000022.11:g.31906353A>G, NC_000022.10:g.32302339A>G, NG_034067.1:g.157403A>G, NM_014662.6:c.4575A>G, NM_014662.5:c.4575A>G, NM_014662.4:c.4575A>G, NM_014662.3:c.4575A>G, NM_001136029.4:c.4641A>G, NM_001136029.3:c.4641A>G, NM_001136029.2:c.4641A>G, NM_001242896.3:c.4668A>G, NM_001242896.2:c.4668A>G, NM_001242896.1:c.4668A>G, NM_001364320.2:c.4602A>G, NM_001364320.1:c.4602A>G, NM_001364318.2:c.4668A>G, NM_001364318.1:c.4668A>G, NM_001364319.2:c.4434A>G, NM_001364319.1:c.4434A>G, NR_157125.2:n.4565A>G, NR_157125.1:n.4565A>G, NR_157126.2:n.4437A>G, NR_157126.1:n.4437A>G, NR_146296.2:n.4840A>G, NR_146296.1:n.4857A>G, NM_001363852.2:c.4602A>G, NM_001363852.1:c.4602A>G, NM_001363854.2:c.4434A>G, NM_001363854.1:c.4434A>G, NR_110988.2:n.4465A>G, NR_110988.1:n.4461A>G, NM_001242897.2:c.4368A>G, NM_001242897.1:c.4368A>G, NM_001369901.1:c.4584A>G, NM_001369903.1:c.4575A>G, NR_157128.1:n.4699A>G, NM_001369902.1:c.4584A>G, XM_011530557.3:c.4641A>G, XM_011530557.2:c.4641A>G, XM_011530557.1:c.4641A>G, XM_011530562.3:c.4496A>G, XM_011530562.2:c.4496A>G, XM_011530562.1:c.4496A>G, XM_011530561.3:c.4407A>G, XM_011530561.2:c.4407A>G, XM_011530561.1:c.4407A>G, XM_011530563.3:c.4368A>G, XM_011530563.2:c.4368A>G, XM_011530563.1:c.4368A>G, XM_011530569.3:c.2562A>G, XM_011530569.2:c.2562A>G, XM_011530569.1:c.2562A>G, XM_024452305.2:c.2535A>G, XM_024452305.1:c.2535A>G, XM_047441628.1:c.4403A>G, XM_047441626.1:c.4341A>G, XM_047441625.1:c.4407A>G, XM_047441629.1:c.4262A>G, XM_047441627.1:c.4341A>G, XM_047441630.1:c.4169A>G, XM_047441632.1:c.3675A>G, XP_011528864.1:p.Lys1499Arg, XP_047297584.1:p.Lys1468Arg, XP_047297585.1:p.Lys1421Arg, XP_047297586.1:p.Lys1390Arg

                        12.

                        rs1483617202 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          22:31906403 (GRCh38)
                          22:32302389 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:31906402:T:G
                          Gene:
                          DEPDC5 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,terminator_codon_variant,stop_lost
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.0005/1 (Korea1K)
                          HGVS:
                          NC_000022.11:g.31906403T>G, NC_000022.10:g.32302389T>G, NG_034067.1:g.157453T>G, NM_014662.6:c.4625T>G, NM_014662.5:c.4625T>G, NM_014662.4:c.4625T>G, NM_014662.3:c.4625T>G, NM_001136029.4:c.4691T>G, NM_001136029.3:c.4691T>G, NM_001136029.2:c.4691T>G, NM_001242896.3:c.4718T>G, NM_001242896.2:c.4718T>G, NM_001242896.1:c.4718T>G, NM_001364320.2:c.4652T>G, NM_001364320.1:c.4652T>G, NM_001364318.2:c.4718T>G, NM_001364318.1:c.4718T>G, NM_001364319.2:c.4484T>G, NM_001364319.1:c.4484T>G, NR_157125.2:n.4615T>G, NR_157125.1:n.4615T>G, NR_157126.2:n.4487T>G, NR_157126.1:n.4487T>G, NR_146296.2:n.4890T>G, NR_146296.1:n.4907T>G, NM_001363852.2:c.4652T>G, NM_001363852.1:c.4652T>G, NM_001363854.2:c.4484T>G, NM_001363854.1:c.4484T>G, NR_110988.2:n.4515T>G, NR_110988.1:n.4511T>G, NM_001242897.2:c.4418T>G, NM_001242897.1:c.4418T>G, NM_001369901.1:c.4634T>G, NM_001369903.1:c.4625T>G, NR_157128.1:n.4749T>G, NM_001369902.1:c.4634T>G, XM_011530557.3:c.4691T>G, XM_011530557.2:c.4691T>G, XM_011530557.1:c.4691T>G, XM_011530562.3:c.4546T>G, XM_011530562.2:c.4546T>G, XM_011530562.1:c.4546T>G, XM_011530561.3:c.4457T>G, XM_011530561.2:c.4457T>G, XM_011530561.1:c.4457T>G, XM_011530563.3:c.4418T>G, XM_011530563.2:c.4418T>G, XM_011530563.1:c.4418T>G, XM_011530569.3:c.2612T>G, XM_011530569.2:c.2612T>G, XM_011530569.1:c.2612T>G, XM_024452305.2:c.2585T>G, XM_024452305.1:c.2585T>G, XM_047441628.1:c.4453T>G, XM_047441626.1:c.4391T>G, XM_047441625.1:c.4457T>G, XM_047441629.1:c.4312T>G, XM_047441627.1:c.4391T>G, XM_047441630.1:c.4219T>G, XM_047441632.1:c.3725T>G, NP_055477.1:p.Leu1542Arg, NP_001129501.1:p.Leu1564Arg, NP_001229825.1:p.Leu1573Arg, NP_001351249.1:p.Leu1551Arg, NP_001351247.1:p.Leu1573Arg, NP_001351248.1:p.Leu1495Arg, NP_001350781.1:p.Leu1551Arg, NP_001350783.1:p.Leu1495Arg, NP_001229826.1:p.Leu1473Arg, NP_001356830.1:p.Leu1545Arg, NP_001356832.1:p.Leu1542Arg, NP_001356831.1:p.Leu1545Arg, XP_011528859.1:p.Leu1564Arg, XP_011528864.1:p.Ter1516Gly, XP_011528863.1:p.Leu1486Arg, XP_011528865.1:p.Leu1473Arg, XP_011528871.1:p.Leu871Arg, XP_024308073.1:p.Leu862Arg, XP_047297584.1:p.Ter1485Gly, XP_047297582.1:p.Leu1464Arg, XP_047297581.1:p.Leu1486Arg, XP_047297585.1:p.Ter1438Gly, XP_047297583.1:p.Leu1464Arg, XP_047297586.1:p.Ter1407Gly, XP_047297588.1:p.Leu1242Arg

                          13.

                          rs1483477312 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            22:31815186 (GRCh38)
                            22:32211172 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:31815185:G:A,NC_000022.11:31815185:G:C
                            Gene:
                            DEPDC5 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.00005/1 (ALFA)
                            HGVS:
                            NC_000022.11:g.31815186G>A, NC_000022.11:g.31815186G>C, NC_000022.10:g.32211172G>A, NC_000022.10:g.32211172G>C, NG_034067.1:g.66236G>A, NG_034067.1:g.66236G>C, NM_014662.6:c.1640G>A, NM_014662.6:c.1640G>C, NM_014662.5:c.1640G>A, NM_014662.5:c.1640G>C, NM_014662.4:c.1640G>A, NM_014662.4:c.1640G>C, NM_014662.3:c.1640G>A, NM_014662.3:c.1640G>C, NM_001136029.4:c.1640G>A, NM_001136029.4:c.1640G>C, NM_001136029.3:c.1640G>A, NM_001136029.3:c.1640G>C, NM_001136029.2:c.1640G>A, NM_001136029.2:c.1640G>C, NM_001007188.4:c.1640G>A, NM_001007188.4:c.1640G>C, NM_001007188.3:c.1640G>A, NM_001007188.3:c.1640G>C, NM_001007188.2:c.1640G>A, NM_001007188.2:c.1640G>C, NM_001242896.3:c.1640G>A, NM_001242896.3:c.1640G>C, NM_001242896.2:c.1640G>A, NM_001242896.2:c.1640G>C, NM_001242896.1:c.1640G>A, NM_001242896.1:c.1640G>C, NM_001364320.2:c.1640G>A, NM_001364320.2:c.1640G>C, NM_001364320.1:c.1640G>A, NM_001364320.1:c.1640G>C, NM_001364318.2:c.1640G>A, NM_001364318.2:c.1640G>C, NM_001364318.1:c.1640G>A, NM_001364318.1:c.1640G>C, NM_001364319.2:c.1640G>A, NM_001364319.2:c.1640G>C, NM_001364319.1:c.1640G>A, NM_001364319.1:c.1640G>C, NR_157125.2:n.1725G>A, NR_157125.2:n.1725G>C, NR_157125.1:n.1725G>A, NR_157125.1:n.1725G>C, NR_157126.2:n.1729G>A, NR_157126.2:n.1729G>C, NR_157126.1:n.1729G>A, NR_157126.1:n.1729G>C, NR_146296.2:n.1729G>A, NR_146296.2:n.1729G>C, NR_146296.1:n.1746G>A, NR_146296.1:n.1746G>C, NM_001363852.2:c.1640G>A, NM_001363852.2:c.1640G>C, NM_001363852.1:c.1640G>A, NM_001363852.1:c.1640G>C, NM_001363854.2:c.1640G>A, NM_001363854.2:c.1640G>C, NM_001363854.1:c.1640G>A, NM_001363854.1:c.1640G>C, NR_110988.2:n.1846G>A, NR_110988.2:n.1846G>C, NR_110988.1:n.1842G>A, NR_110988.1:n.1842G>C, NM_001242897.2:c.1640G>A, NM_001242897.2:c.1640G>C, NM_001242897.1:c.1640G>A, NM_001242897.1:c.1640G>C, NM_001369901.1:c.1556G>A, NM_001369901.1:c.1556G>C, NM_001369903.1:c.1640G>A, NM_001369903.1:c.1640G>C, NR_157128.1:n.1846G>A, NR_157128.1:n.1846G>C, NM_001369902.1:c.1556G>A, NM_001369902.1:c.1556G>C, XM_011530557.3:c.1640G>A, XM_011530557.3:c.1640G>C, XM_011530557.2:c.1640G>A, XM_011530557.2:c.1640G>C, XM_011530557.1:c.1640G>A, XM_011530557.1:c.1640G>C, XM_011530562.3:c.1640G>A, XM_011530562.3:c.1640G>C, XM_011530562.2:c.1640G>A, XM_011530562.2:c.1640G>C, XM_011530562.1:c.1640G>A, XM_011530562.1:c.1640G>C, XM_011530561.3:c.1640G>A, XM_011530561.3:c.1640G>C, XM_011530561.2:c.1640G>A, XM_011530561.2:c.1640G>C, XM_011530561.1:c.1640G>A, XM_011530561.1:c.1640G>C, XM_011530563.3:c.1640G>A, XM_011530563.3:c.1640G>C, XM_011530563.2:c.1640G>A, XM_011530563.2:c.1640G>C, XM_011530563.1:c.1640G>A, XM_011530563.1:c.1640G>C, XM_011530565.3:c.1640G>A, XM_011530565.3:c.1640G>C, XM_011530565.2:c.1640G>A, XM_011530565.2:c.1640G>C, XM_011530565.1:c.1640G>A, XM_011530565.1:c.1640G>C, XM_017029113.2:c.1640G>A, XM_017029113.2:c.1640G>C, XM_017029113.1:c.1640G>A, XM_017029113.1:c.1640G>C, XM_017029114.2:c.1640G>A, XM_017029114.2:c.1640G>C, XM_017029114.1:c.1640G>A, XM_017029114.1:c.1640G>C, XM_047441628.1:c.1640G>A, XM_047441628.1:c.1640G>C, XM_047441626.1:c.1640G>A, XM_047441626.1:c.1640G>C, XM_047441625.1:c.1640G>A, XM_047441625.1:c.1640G>C, XM_047441629.1:c.1640G>A, XM_047441629.1:c.1640G>C, XM_047441627.1:c.1640G>A, XM_047441627.1:c.1640G>C, XM_047441630.1:c.1640G>A, XM_047441630.1:c.1640G>C, XM_047441632.1:c.647G>A, XM_047441632.1:c.647G>C, XR_007067997.1:n.1846G>A, XR_007067997.1:n.1846G>C, XM_047441631.1:c.1640G>A, XM_047441631.1:c.1640G>C, XM_047441633.1:c.1640G>A, XM_047441633.1:c.1640G>C, XM_047441634.1:c.1640G>A, XM_047441634.1:c.1640G>C, XM_047441635.1:c.1640G>A, XM_047441635.1:c.1640G>C, XM_047441636.1:c.1640G>A, XM_047441636.1:c.1640G>C, XM_047441637.1:c.1640G>A, XM_047441637.1:c.1640G>C, NP_055477.1:p.Ser547Asn, NP_055477.1:p.Ser547Thr, NP_001129501.1:p.Ser547Asn, NP_001129501.1:p.Ser547Thr, NP_001007189.1:p.Ser547Asn, NP_001007189.1:p.Ser547Thr, NP_001229825.1:p.Ser547Asn, NP_001229825.1:p.Ser547Thr, NP_001351249.1:p.Ser547Asn, NP_001351249.1:p.Ser547Thr, NP_001351247.1:p.Ser547Asn, NP_001351247.1:p.Ser547Thr, NP_001351248.1:p.Ser547Asn, NP_001351248.1:p.Ser547Thr, NP_001350781.1:p.Ser547Asn, NP_001350781.1:p.Ser547Thr, NP_001350783.1:p.Ser547Asn, NP_001350783.1:p.Ser547Thr, NP_001229826.1:p.Ser547Asn, NP_001229826.1:p.Ser547Thr, NP_001356830.1:p.Ser519Asn, NP_001356830.1:p.Ser519Thr, NP_001356832.1:p.Ser547Asn, NP_001356832.1:p.Ser547Thr, NP_001356831.1:p.Ser519Asn, NP_001356831.1:p.Ser519Thr, XP_011528859.1:p.Ser547Asn, XP_011528859.1:p.Ser547Thr, XP_011528864.1:p.Ser547Asn, XP_011528864.1:p.Ser547Thr, XP_011528863.1:p.Ser547Asn, XP_011528863.1:p.Ser547Thr, XP_011528865.1:p.Ser547Asn, XP_011528865.1:p.Ser547Thr, XP_011528867.1:p.Ser547Asn, XP_011528867.1:p.Ser547Thr, XP_016884602.1:p.Ser547Asn, XP_016884602.1:p.Ser547Thr, XP_016884603.1:p.Ser547Asn, XP_016884603.1:p.Ser547Thr, XP_047297584.1:p.Ser547Asn, XP_047297584.1:p.Ser547Thr, XP_047297582.1:p.Ser547Asn, XP_047297582.1:p.Ser547Thr, XP_047297581.1:p.Ser547Asn, XP_047297581.1:p.Ser547Thr, XP_047297585.1:p.Ser547Asn, XP_047297585.1:p.Ser547Thr, XP_047297583.1:p.Ser547Asn, XP_047297583.1:p.Ser547Thr, XP_047297586.1:p.Ser547Asn, XP_047297586.1:p.Ser547Thr, XP_047297588.1:p.Ser216Asn, XP_047297588.1:p.Ser216Thr, XP_047297587.1:p.Ser547Asn, XP_047297587.1:p.Ser547Thr, XP_047297589.1:p.Ser547Asn, XP_047297589.1:p.Ser547Thr, XP_047297590.1:p.Ser547Asn, XP_047297590.1:p.Ser547Thr, XP_047297591.1:p.Ser547Asn, XP_047297591.1:p.Ser547Thr, XP_047297592.1:p.Ser547Asn, XP_047297592.1:p.Ser547Thr, XP_047297593.1:p.Ser547Asn, XP_047297593.1:p.Ser547Thr

                            14.

                            rs1482959617 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:31897520 (GRCh38)
                              22:32293506 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:31897519:C:T
                              Gene:
                              DEPDC5 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              T=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.31897520C>T, NC_000022.10:g.32293506C>T, NG_034067.1:g.148570C>T, NM_014662.6:c.4149C>T, NM_014662.5:c.4149C>T, NM_014662.4:c.4149C>T, NM_014662.3:c.4149C>T, NM_001136029.4:c.4215C>T, NM_001136029.3:c.4215C>T, NM_001136029.2:c.4215C>T, NM_001242896.3:c.4242C>T, NM_001242896.2:c.4242C>T, NM_001242896.1:c.4242C>T, NM_001364320.2:c.4176C>T, NM_001364320.1:c.4176C>T, NM_001364318.2:c.4242C>T, NM_001364318.1:c.4242C>T, NM_001364319.2:c.4008C>T, NM_001364319.1:c.4008C>T, NR_157125.2:n.4139C>T, NR_157125.1:n.4139C>T, NR_157126.2:n.4011C>T, NR_157126.1:n.4011C>T, NR_146296.2:n.4414C>T, NR_146296.1:n.4431C>T, NM_001363852.2:c.4176C>T, NM_001363852.1:c.4176C>T, NM_001363854.2:c.4008C>T, NM_001363854.1:c.4008C>T, NR_110988.2:n.4039C>T, NR_110988.1:n.4035C>T, NM_001242897.2:c.3942C>T, NM_001242897.1:c.3942C>T, NM_001369901.1:c.4158C>T, NM_001369903.1:c.4149C>T, NR_157128.1:n.4273C>T, NM_001369902.1:c.4158C>T, XM_011530557.3:c.4215C>T, XM_011530557.2:c.4215C>T, XM_011530557.1:c.4215C>T, XM_011530561.3:c.3981C>T, XM_011530561.2:c.3981C>T, XM_011530561.1:c.3981C>T, XM_011530563.3:c.3942C>T, XM_011530563.2:c.3942C>T, XM_011530563.1:c.3942C>T, XM_011530569.3:c.2136C>T, XM_011530569.2:c.2136C>T, XM_011530569.1:c.2136C>T, XM_024452305.2:c.2109C>T, XM_024452305.1:c.2109C>T, XM_047441626.1:c.3915C>T, XM_047441625.1:c.3981C>T, XM_047441627.1:c.3915C>T, XM_047441632.1:c.3249C>T, XR_007067997.1:n.5044C>T

                              15.

                              rs1482020611 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                22:31879649 (GRCh38)
                                22:32275635 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:31879648:C:G,NC_000022.11:31879648:C:T
                                Gene:
                                DEPDC5 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000022.11:g.31879649C>G, NC_000022.11:g.31879649C>T, NC_000022.10:g.32275635C>G, NC_000022.10:g.32275635C>T, NG_034067.1:g.130699C>G, NG_034067.1:g.130699C>T, NM_014662.6:c.3837C>G, NM_014662.6:c.3837C>T, NM_014662.5:c.3837C>G, NM_014662.5:c.3837C>T, NM_014662.4:c.3837C>G, NM_014662.4:c.3837C>T, NM_014662.3:c.3837C>G, NM_014662.3:c.3837C>T, NM_001136029.4:c.3903C>G, NM_001136029.4:c.3903C>T, NM_001136029.3:c.3903C>G, NM_001136029.3:c.3903C>T, NM_001136029.2:c.3903C>G, NM_001136029.2:c.3903C>T, NM_001242896.3:c.3930C>G, NM_001242896.3:c.3930C>T, NM_001242896.2:c.3930C>G, NM_001242896.2:c.3930C>T, NM_001242896.1:c.3930C>G, NM_001242896.1:c.3930C>T, NM_001364320.2:c.3864C>G, NM_001364320.2:c.3864C>T, NM_001364320.1:c.3864C>G, NM_001364320.1:c.3864C>T, NM_001364318.2:c.3930C>G, NM_001364318.2:c.3930C>T, NM_001364318.1:c.3930C>G, NM_001364318.1:c.3930C>T, NM_001364319.2:c.3696C>G, NM_001364319.2:c.3696C>T, NM_001364319.1:c.3696C>G, NM_001364319.1:c.3696C>T, NR_157125.2:n.3827C>G, NR_157125.2:n.3827C>T, NR_157125.1:n.3827C>G, NR_157125.1:n.3827C>T, NR_157126.2:n.3699C>G, NR_157126.2:n.3699C>T, NR_157126.1:n.3699C>G, NR_157126.1:n.3699C>T, NR_146296.2:n.4102C>G, NR_146296.2:n.4102C>T, NR_146296.1:n.4119C>G, NR_146296.1:n.4119C>T, NM_001363852.2:c.3864C>G, NM_001363852.2:c.3864C>T, NM_001363852.1:c.3864C>G, NM_001363852.1:c.3864C>T, NM_001363854.2:c.3696C>G, NM_001363854.2:c.3696C>T, NM_001363854.1:c.3696C>G, NM_001363854.1:c.3696C>T, NR_110988.2:n.3727C>G, NR_110988.2:n.3727C>T, NR_110988.1:n.3723C>G, NR_110988.1:n.3723C>T, NM_001242897.2:c.3630C>G, NM_001242897.2:c.3630C>T, NM_001242897.1:c.3630C>G, NM_001242897.1:c.3630C>T, NM_001369901.1:c.3846C>G, NM_001369901.1:c.3846C>T, NM_001369903.1:c.3837C>G, NM_001369903.1:c.3837C>T, NR_157128.1:n.3961C>G, NR_157128.1:n.3961C>T, NM_001369902.1:c.3846C>G, NM_001369902.1:c.3846C>T, XM_011530557.3:c.3903C>G, XM_011530557.3:c.3903C>T, XM_011530557.2:c.3903C>G, XM_011530557.2:c.3903C>T, XM_011530557.1:c.3903C>G, XM_011530557.1:c.3903C>T, XM_011530562.3:c.3930C>G, XM_011530562.3:c.3930C>T, XM_011530562.2:c.3930C>G, XM_011530562.2:c.3930C>T, XM_011530562.1:c.3930C>G, XM_011530562.1:c.3930C>T, XM_011530561.3:c.3669C>G, XM_011530561.3:c.3669C>T, XM_011530561.2:c.3669C>G, XM_011530561.2:c.3669C>T, XM_011530561.1:c.3669C>G, XM_011530561.1:c.3669C>T, XM_011530563.3:c.3630C>G, XM_011530563.3:c.3630C>T, XM_011530563.2:c.3630C>G, XM_011530563.2:c.3630C>T, XM_011530563.1:c.3630C>G, XM_011530563.1:c.3630C>T, XM_011530569.3:c.1824C>G, XM_011530569.3:c.1824C>T, XM_011530569.2:c.1824C>G, XM_011530569.2:c.1824C>T, XM_011530569.1:c.1824C>G, XM_011530569.1:c.1824C>T, XM_011530565.3:c.3821C>G, XM_011530565.3:c.3821C>T, XM_011530565.2:c.3821C>G, XM_011530565.2:c.3821C>T, XM_011530565.1:c.3821C>G, XM_011530565.1:c.3821C>T, XM_024452305.2:c.1797C>G, XM_024452305.2:c.1797C>T, XM_024452305.1:c.1797C>G, XM_024452305.1:c.1797C>T, XM_047441628.1:c.3837C>G, XM_047441628.1:c.3837C>T, XM_047441626.1:c.3603C>G, XM_047441626.1:c.3603C>T, XM_047441625.1:c.3669C>G, XM_047441625.1:c.3669C>T, XM_047441629.1:c.3696C>G, XM_047441629.1:c.3696C>T, XM_047441627.1:c.3603C>G, XM_047441627.1:c.3603C>T, XM_047441630.1:c.3603C>G, XM_047441630.1:c.3603C>T, XM_047441632.1:c.2937C>G, XM_047441632.1:c.2937C>T, XR_007067997.1:n.4136C>G, XR_007067997.1:n.4136C>T, XM_047441631.1:c.*46C>G, XM_047441631.1:c.*46C>T, XM_047441633.1:c.3587C>G, XM_047441633.1:c.3587C>T, XM_047441635.1:c.*46C>G, XM_047441635.1:c.*46C>T, XM_047441636.1:c.*46C>G, XM_047441636.1:c.*46C>T, XP_011528867.1:p.Pro1274Arg, XP_011528867.1:p.Pro1274Leu, XP_047297589.1:p.Pro1196Arg, XP_047297589.1:p.Pro1196Leu

                                16.

                                rs1481214153 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  22:31876222 (GRCh38)
                                  22:32272208 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:31876221:C:T
                                  Gene:
                                  DEPDC5 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.31876222C>T, NC_000022.10:g.32272208C>T, NG_034067.1:g.127272C>T, NM_014662.6:c.3669C>T, NM_014662.5:c.3669C>T, NM_014662.4:c.3669C>T, NM_014662.3:c.3669C>T, NM_001136029.4:c.3735C>T, NM_001136029.3:c.3735C>T, NM_001136029.2:c.3735C>T, NM_001242896.3:c.3762C>T, NM_001242896.2:c.3762C>T, NM_001242896.1:c.3762C>T, NM_001364320.2:c.3696C>T, NM_001364320.1:c.3696C>T, NM_001364318.2:c.3762C>T, NM_001364318.1:c.3762C>T, NM_001364319.2:c.3528C>T, NM_001364319.1:c.3528C>T, NR_157125.2:n.3659C>T, NR_157125.1:n.3659C>T, NR_146296.2:n.3934C>T, NR_146296.1:n.3951C>T, NM_001363852.2:c.3696C>T, NM_001363852.1:c.3696C>T, NM_001363854.2:c.3528C>T, NM_001363854.1:c.3528C>T, NM_001242897.2:c.3462C>T, NM_001242897.1:c.3462C>T, NM_001369901.1:c.3678C>T, NM_001369903.1:c.3669C>T, NM_001369902.1:c.3678C>T, XM_011530557.3:c.3735C>T, XM_011530557.2:c.3735C>T, XM_011530557.1:c.3735C>T, XM_011530562.3:c.3762C>T, XM_011530562.2:c.3762C>T, XM_011530562.1:c.3762C>T, XM_011530561.3:c.3501C>T, XM_011530561.2:c.3501C>T, XM_011530561.1:c.3501C>T, XM_011530563.3:c.3462C>T, XM_011530563.2:c.3462C>T, XM_011530563.1:c.3462C>T, XM_011530569.3:c.1656C>T, XM_011530569.2:c.1656C>T, XM_011530569.1:c.1656C>T, XM_024452305.2:c.1629C>T, XM_024452305.1:c.1629C>T, XM_047441628.1:c.3669C>T, XM_047441626.1:c.3435C>T, XM_047441625.1:c.3501C>T, XM_047441629.1:c.3528C>T, XM_047441627.1:c.3435C>T, XM_047441630.1:c.3435C>T, XM_047441632.1:c.2769C>T, XR_007067997.1:n.3968C>T, XM_047441631.1:c.3832C>T, XP_047297587.1:p.Leu1278Phe

                                  17.

                                  rs1480889523 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    22:31879672 (GRCh38)
                                    22:32275658 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:31879671:G:T
                                    Gene:
                                    DEPDC5 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000022.11:g.31879672G>T, NC_000022.10:g.32275658G>T, NG_034067.1:g.130722G>T, NM_014662.6:c.3860G>T, NM_014662.5:c.3860G>T, NM_014662.4:c.3860G>T, NM_014662.3:c.3860G>T, NM_001136029.4:c.3926G>T, NM_001136029.3:c.3926G>T, NM_001136029.2:c.3926G>T, NM_001242896.3:c.3953G>T, NM_001242896.2:c.3953G>T, NM_001242896.1:c.3953G>T, NM_001364320.2:c.3887G>T, NM_001364320.1:c.3887G>T, NM_001364318.2:c.3953G>T, NM_001364318.1:c.3953G>T, NM_001364319.2:c.3719G>T, NM_001364319.1:c.3719G>T, NR_157125.2:n.3850G>T, NR_157125.1:n.3850G>T, NR_157126.2:n.3722G>T, NR_157126.1:n.3722G>T, NR_146296.2:n.4125G>T, NR_146296.1:n.4142G>T, NM_001363852.2:c.3887G>T, NM_001363852.1:c.3887G>T, NM_001363854.2:c.3719G>T, NM_001363854.1:c.3719G>T, NR_110988.2:n.3750G>T, NR_110988.1:n.3746G>T, NM_001242897.2:c.3653G>T, NM_001242897.1:c.3653G>T, NM_001369901.1:c.3869G>T, NM_001369903.1:c.3860G>T, NR_157128.1:n.3984G>T, NM_001369902.1:c.3869G>T, XM_011530557.3:c.3926G>T, XM_011530557.2:c.3926G>T, XM_011530557.1:c.3926G>T, XM_011530562.3:c.3953G>T, XM_011530562.2:c.3953G>T, XM_011530562.1:c.3953G>T, XM_011530561.3:c.3692G>T, XM_011530561.2:c.3692G>T, XM_011530561.1:c.3692G>T, XM_011530563.3:c.3653G>T, XM_011530563.2:c.3653G>T, XM_011530563.1:c.3653G>T, XM_011530569.3:c.1847G>T, XM_011530569.2:c.1847G>T, XM_011530569.1:c.1847G>T, XM_011530565.3:c.3844G>T, XM_011530565.2:c.3844G>T, XM_011530565.1:c.3844G>T, XM_024452305.2:c.1820G>T, XM_024452305.1:c.1820G>T, XM_047441628.1:c.3860G>T, XM_047441626.1:c.3626G>T, XM_047441625.1:c.3692G>T, XM_047441629.1:c.3719G>T, XM_047441627.1:c.3626G>T, XM_047441630.1:c.3626G>T, XM_047441632.1:c.2960G>T, XR_007067997.1:n.4159G>T, XM_047441631.1:c.*69G>T, XM_047441633.1:c.3610G>T, XM_047441635.1:c.*69G>T, XM_047441636.1:c.*69G>T, NP_055477.1:p.Ser1287Ile, NP_001129501.1:p.Ser1309Ile, NP_001229825.1:p.Ser1318Ile, NP_001351249.1:p.Ser1296Ile, NP_001351247.1:p.Ser1318Ile, NP_001351248.1:p.Ser1240Ile, NP_001350781.1:p.Ser1296Ile, NP_001350783.1:p.Ser1240Ile, NP_001229826.1:p.Ser1218Ile, NP_001356830.1:p.Ser1290Ile, NP_001356832.1:p.Ser1287Ile, NP_001356831.1:p.Ser1290Ile, XP_011528859.1:p.Ser1309Ile, XP_011528864.1:p.Ser1318Ile, XP_011528863.1:p.Ser1231Ile, XP_011528865.1:p.Ser1218Ile, XP_011528871.1:p.Ser616Ile, XP_011528867.1:p.Ala1282Ser, XP_024308073.1:p.Ser607Ile, XP_047297584.1:p.Ser1287Ile, XP_047297582.1:p.Ser1209Ile, XP_047297581.1:p.Ser1231Ile, XP_047297585.1:p.Ser1240Ile, XP_047297583.1:p.Ser1209Ile, XP_047297586.1:p.Ser1209Ile, XP_047297588.1:p.Ser987Ile, XP_047297589.1:p.Ala1204Ser

                                    18.

                                    rs1479941161 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      22:31837148 (GRCh38)
                                      22:32233134 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:31837147:A:G,NC_000022.11:31837147:A:T
                                      Gene:
                                      DEPDC5 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      T=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      NC_000022.11:g.31837148A>G, NC_000022.11:g.31837148A>T, NC_000022.10:g.32233134A>G, NC_000022.10:g.32233134A>T, NG_034067.1:g.88198A>G, NG_034067.1:g.88198A>T, NM_014662.6:c.2320A>G, NM_014662.6:c.2320A>T, NM_014662.5:c.2320A>G, NM_014662.5:c.2320A>T, NM_014662.4:c.2320A>G, NM_014662.4:c.2320A>T, NM_014662.3:c.2320A>G, NM_014662.3:c.2320A>T, NM_001136029.4:c.2320A>G, NM_001136029.4:c.2320A>T, NM_001136029.3:c.2320A>G, NM_001136029.3:c.2320A>T, NM_001136029.2:c.2320A>G, NM_001136029.2:c.2320A>T, NM_001242896.3:c.2347A>G, NM_001242896.3:c.2347A>T, NM_001242896.2:c.2347A>G, NM_001242896.2:c.2347A>T, NM_001242896.1:c.2347A>G, NM_001242896.1:c.2347A>T, NM_001364320.2:c.2347A>G, NM_001364320.2:c.2347A>T, NM_001364320.1:c.2347A>G, NM_001364320.1:c.2347A>T, NM_001364318.2:c.2347A>G, NM_001364318.2:c.2347A>T, NM_001364318.1:c.2347A>G, NM_001364318.1:c.2347A>T, NM_001364319.2:c.2113A>G, NM_001364319.2:c.2113A>T, NM_001364319.1:c.2113A>G, NM_001364319.1:c.2113A>T, NR_157125.2:n.2310A>G, NR_157125.2:n.2310A>T, NR_157125.1:n.2310A>G, NR_157125.1:n.2310A>T, NR_157126.2:n.2436A>G, NR_157126.2:n.2436A>T, NR_157126.1:n.2436A>G, NR_157126.1:n.2436A>T, NR_146296.2:n.2436A>G, NR_146296.2:n.2436A>T, NR_146296.1:n.2453A>G, NR_146296.1:n.2453A>T, NM_001363852.2:c.2347A>G, NM_001363852.2:c.2347A>T, NM_001363852.1:c.2347A>G, NM_001363852.1:c.2347A>T, NM_001363854.2:c.2113A>G, NM_001363854.2:c.2113A>T, NM_001363854.1:c.2113A>G, NM_001363854.1:c.2113A>T, NR_110988.2:n.2319A>G, NR_110988.2:n.2319A>T, NR_110988.1:n.2315A>G, NR_110988.1:n.2315A>T, NM_001242897.2:c.2113A>G, NM_001242897.2:c.2113A>T, NM_001242897.1:c.2113A>G, NM_001242897.1:c.2113A>T, NM_001369901.1:c.2263A>G, NM_001369901.1:c.2263A>T, NM_001369903.1:c.2320A>G, NM_001369903.1:c.2320A>T, NR_157128.1:n.2553A>G, NR_157128.1:n.2553A>T, NM_001369902.1:c.2263A>G, NM_001369902.1:c.2263A>T, NG_045516.1:g.11A>G, NG_045516.1:g.11A>T, XM_011530557.3:c.2320A>G, XM_011530557.3:c.2320A>T, XM_011530557.2:c.2320A>G, XM_011530557.2:c.2320A>T, XM_011530557.1:c.2320A>G, XM_011530557.1:c.2320A>T, XM_011530562.3:c.2347A>G, XM_011530562.3:c.2347A>T, XM_011530562.2:c.2347A>G, XM_011530562.2:c.2347A>T, XM_011530562.1:c.2347A>G, XM_011530562.1:c.2347A>T, XM_011530561.3:c.2086A>G, XM_011530561.3:c.2086A>T, XM_011530561.2:c.2086A>G, XM_011530561.2:c.2086A>T, XM_011530561.1:c.2086A>G, XM_011530561.1:c.2086A>T, XM_011530563.3:c.2113A>G, XM_011530563.3:c.2113A>T, XM_011530563.2:c.2113A>G, XM_011530563.2:c.2113A>T, XM_011530563.1:c.2113A>G, XM_011530563.1:c.2113A>T, XM_011530569.3:c.241A>G, XM_011530569.3:c.241A>T, XM_011530569.2:c.241A>G, XM_011530569.2:c.241A>T, XM_011530569.1:c.241A>G, XM_011530569.1:c.241A>T, XM_011530565.3:c.2347A>G, XM_011530565.3:c.2347A>T, XM_011530565.2:c.2347A>G, XM_011530565.2:c.2347A>T, XM_011530565.1:c.2347A>G, XM_011530565.1:c.2347A>T, XM_024452305.2:c.214A>G, XM_024452305.2:c.214A>T, XM_024452305.1:c.214A>G, XM_024452305.1:c.214A>T, XM_017029113.2:c.*41A>G, XM_017029113.2:c.*41A>T, XM_017029113.1:c.*41A>G, XM_017029113.1:c.*41A>T, XM_047441628.1:c.2320A>G, XM_047441628.1:c.2320A>T, XM_047441626.1:c.2086A>G, XM_047441626.1:c.2086A>T, XM_047441625.1:c.2086A>G, XM_047441625.1:c.2086A>T, XM_047441629.1:c.2113A>G, XM_047441629.1:c.2113A>T, XM_047441627.1:c.2086A>G, XM_047441627.1:c.2086A>T, XM_047441630.1:c.2086A>G, XM_047441630.1:c.2086A>T, XM_047441632.1:c.1354A>G, XM_047441632.1:c.1354A>T, XR_007067997.1:n.2553A>G, XR_007067997.1:n.2553A>T, XM_047441631.1:c.2347A>G, XM_047441631.1:c.2347A>T, XM_047441633.1:c.2113A>G, XM_047441633.1:c.2113A>T, XM_047441634.1:c.2347A>G, XM_047441634.1:c.2347A>T, XM_047441635.1:c.2347A>G, XM_047441635.1:c.2347A>T, XM_047441636.1:c.2320A>G, XM_047441636.1:c.2320A>T, XM_047441637.1:c.*41A>G, XM_047441637.1:c.*41A>T, NP_055477.1:p.Ile774Val, NP_055477.1:p.Ile774Phe, NP_001129501.1:p.Ile774Val, NP_001129501.1:p.Ile774Phe, NP_001229825.1:p.Ile783Val, NP_001229825.1:p.Ile783Phe, NP_001351249.1:p.Ile783Val, NP_001351249.1:p.Ile783Phe, NP_001351247.1:p.Ile783Val, NP_001351247.1:p.Ile783Phe, NP_001351248.1:p.Ile705Val, NP_001351248.1:p.Ile705Phe, NP_001350781.1:p.Ile783Val, NP_001350781.1:p.Ile783Phe, NP_001350783.1:p.Ile705Val, NP_001350783.1:p.Ile705Phe, NP_001229826.1:p.Ile705Val, NP_001229826.1:p.Ile705Phe, NP_001356830.1:p.Ile755Val, NP_001356830.1:p.Ile755Phe, NP_001356832.1:p.Ile774Val, NP_001356832.1:p.Ile774Phe, NP_001356831.1:p.Ile755Val, NP_001356831.1:p.Ile755Phe, XP_011528859.1:p.Ile774Val, XP_011528859.1:p.Ile774Phe, XP_011528864.1:p.Ile783Val, XP_011528864.1:p.Ile783Phe, XP_011528863.1:p.Ile696Val, XP_011528863.1:p.Ile696Phe, XP_011528865.1:p.Ile705Val, XP_011528865.1:p.Ile705Phe, XP_011528871.1:p.Ile81Val, XP_011528871.1:p.Ile81Phe, XP_011528867.1:p.Ile783Val, XP_011528867.1:p.Ile783Phe, XP_024308073.1:p.Ile72Val, XP_024308073.1:p.Ile72Phe, XP_047297584.1:p.Ile774Val, XP_047297584.1:p.Ile774Phe, XP_047297582.1:p.Ile696Val, XP_047297582.1:p.Ile696Phe, XP_047297581.1:p.Ile696Val, XP_047297581.1:p.Ile696Phe, XP_047297585.1:p.Ile705Val, XP_047297585.1:p.Ile705Phe, XP_047297583.1:p.Ile696Val, XP_047297583.1:p.Ile696Phe, XP_047297586.1:p.Ile696Val, XP_047297586.1:p.Ile696Phe, XP_047297588.1:p.Ile452Val, XP_047297588.1:p.Ile452Phe, XP_047297587.1:p.Ile783Val, XP_047297587.1:p.Ile783Phe, XP_047297589.1:p.Ile705Val, XP_047297589.1:p.Ile705Phe, XP_047297590.1:p.Ile783Val, XP_047297590.1:p.Ile783Phe, XP_047297591.1:p.Ile783Val, XP_047297591.1:p.Ile783Phe, XP_047297592.1:p.Ile774Val, XP_047297592.1:p.Ile774Phe

                                      19.

                                      rs1479727000 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        22:31870686 (GRCh38)
                                        22:32266672 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:31870685:G:A
                                        Gene:
                                        DEPDC5 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000022.11:g.31870686G>A, NC_000022.10:g.32266672G>A, NG_034067.1:g.121736G>A, NM_014662.6:c.3334G>A, NM_014662.5:c.3334G>A, NM_014662.4:c.3334G>A, NM_014662.3:c.3334G>A, NM_001136029.4:c.3400G>A, NM_001136029.3:c.3400G>A, NM_001136029.2:c.3400G>A, NM_001242896.3:c.3427G>A, NM_001242896.2:c.3427G>A, NM_001242896.1:c.3427G>A, NM_001364320.2:c.3361G>A, NM_001364320.1:c.3361G>A, NM_001364318.2:c.3427G>A, NM_001364318.1:c.3427G>A, NM_001364319.2:c.3193G>A, NM_001364319.1:c.3193G>A, NR_157125.2:n.3324G>A, NR_157125.1:n.3324G>A, NR_157126.2:n.3516G>A, NR_157126.1:n.3516G>A, NR_146296.2:n.3516G>A, NR_146296.1:n.3533G>A, NM_001363852.2:c.3361G>A, NM_001363852.1:c.3361G>A, NM_001363854.2:c.3193G>A, NM_001363854.1:c.3193G>A, NR_110988.2:n.3333G>A, NR_110988.1:n.3329G>A, NM_001242897.2:c.3127G>A, NM_001242897.1:c.3127G>A, NM_001369901.1:c.3343G>A, NM_001369903.1:c.3334G>A, NR_157128.1:n.3567G>A, NM_001369902.1:c.3343G>A, XM_011530557.3:c.3400G>A, XM_011530557.2:c.3400G>A, XM_011530557.1:c.3400G>A, XM_011530562.3:c.3427G>A, XM_011530562.2:c.3427G>A, XM_011530562.1:c.3427G>A, XM_011530561.3:c.3166G>A, XM_011530561.2:c.3166G>A, XM_011530561.1:c.3166G>A, XM_011530563.3:c.3127G>A, XM_011530563.2:c.3127G>A, XM_011530563.1:c.3127G>A, XM_011530569.3:c.1321G>A, XM_011530569.2:c.1321G>A, XM_011530569.1:c.1321G>A, XM_011530565.3:c.3427G>A, XM_011530565.2:c.3427G>A, XM_011530565.1:c.3427G>A, XM_024452305.2:c.1294G>A, XM_024452305.1:c.1294G>A, XM_047441628.1:c.3334G>A, XM_047441626.1:c.3100G>A, XM_047441625.1:c.3166G>A, XM_047441629.1:c.3193G>A, XM_047441627.1:c.3100G>A, XM_047441630.1:c.3100G>A, XM_047441632.1:c.2434G>A, XR_007067997.1:n.3633G>A, XM_047441631.1:c.3427G>A, XM_047441633.1:c.3193G>A, XM_047441634.1:c.3427G>A, XM_047441635.1:c.3427G>A, XM_047441636.1:c.3334G>A, NP_055477.1:p.Gly1112Arg, NP_001129501.1:p.Gly1134Arg, NP_001229825.1:p.Gly1143Arg, NP_001351249.1:p.Gly1121Arg, NP_001351247.1:p.Gly1143Arg, NP_001351248.1:p.Gly1065Arg, NP_001350781.1:p.Gly1121Arg, NP_001350783.1:p.Gly1065Arg, NP_001229826.1:p.Gly1043Arg, NP_001356830.1:p.Gly1115Arg, NP_001356832.1:p.Gly1112Arg, NP_001356831.1:p.Gly1115Arg, XP_011528859.1:p.Gly1134Arg, XP_011528864.1:p.Gly1143Arg, XP_011528863.1:p.Gly1056Arg, XP_011528865.1:p.Gly1043Arg, XP_011528871.1:p.Gly441Arg, XP_011528867.1:p.Gly1143Arg, XP_024308073.1:p.Gly432Arg, XP_047297584.1:p.Gly1112Arg, XP_047297582.1:p.Gly1034Arg, XP_047297581.1:p.Gly1056Arg, XP_047297585.1:p.Gly1065Arg, XP_047297583.1:p.Gly1034Arg, XP_047297586.1:p.Gly1034Arg, XP_047297588.1:p.Gly812Arg, XP_047297587.1:p.Gly1143Arg, XP_047297589.1:p.Gly1065Arg, XP_047297590.1:p.Gly1143Arg, XP_047297591.1:p.Gly1143Arg, XP_047297592.1:p.Gly1112Arg

                                        20.

                                        rs1479108198 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          22:31843135 (GRCh38)
                                          22:32239121 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:31843134:T:A
                                          Gene:
                                          DEPDC5 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000022.11:g.31843135T>A, NC_000022.10:g.32239121T>A, NG_034067.1:g.94185T>A, NM_014662.6:c.2529T>A, NM_014662.5:c.2529T>A, NM_014662.4:c.2529T>A, NM_014662.3:c.2529T>A, NM_001136029.4:c.2529T>A, NM_001136029.3:c.2529T>A, NM_001136029.2:c.2529T>A, NM_001242896.3:c.2556T>A, NM_001242896.2:c.2556T>A, NM_001242896.1:c.2556T>A, NM_001364320.2:c.2556T>A, NM_001364320.1:c.2556T>A, NM_001364318.2:c.2556T>A, NM_001364318.1:c.2556T>A, NM_001364319.2:c.2322T>A, NM_001364319.1:c.2322T>A, NR_157125.2:n.2519T>A, NR_157125.1:n.2519T>A, NR_157126.2:n.2645T>A, NR_157126.1:n.2645T>A, NR_146296.2:n.2645T>A, NR_146296.1:n.2662T>A, NM_001363852.2:c.2556T>A, NM_001363852.1:c.2556T>A, NM_001363854.2:c.2322T>A, NM_001363854.1:c.2322T>A, NR_110988.2:n.2528T>A, NR_110988.1:n.2524T>A, NM_001242897.2:c.2322T>A, NM_001242897.1:c.2322T>A, NM_001369901.1:c.2472T>A, NM_001369903.1:c.2529T>A, NR_157128.1:n.2762T>A, NM_001369902.1:c.2472T>A, XM_011530557.3:c.2529T>A, XM_011530557.2:c.2529T>A, XM_011530557.1:c.2529T>A, XM_011530562.3:c.2556T>A, XM_011530562.2:c.2556T>A, XM_011530562.1:c.2556T>A, XM_011530561.3:c.2295T>A, XM_011530561.2:c.2295T>A, XM_011530561.1:c.2295T>A, XM_011530563.3:c.2322T>A, XM_011530563.2:c.2322T>A, XM_011530563.1:c.2322T>A, XM_011530569.3:c.450T>A, XM_011530569.2:c.450T>A, XM_011530569.1:c.450T>A, XM_011530565.3:c.2556T>A, XM_011530565.2:c.2556T>A, XM_011530565.1:c.2556T>A, XM_024452305.2:c.423T>A, XM_024452305.1:c.423T>A, XM_047441628.1:c.2529T>A, XM_047441626.1:c.2295T>A, XM_047441625.1:c.2295T>A, XM_047441629.1:c.2322T>A, XM_047441627.1:c.2295T>A, XM_047441630.1:c.2295T>A, XM_047441632.1:c.1563T>A, XR_007067997.1:n.2762T>A, XM_047441631.1:c.2556T>A, XM_047441633.1:c.2322T>A, XM_047441634.1:c.2556T>A, XM_047441635.1:c.2556T>A, XM_047441636.1:c.2529T>A, NP_055477.1:p.Tyr843Ter, NP_001129501.1:p.Tyr843Ter, NP_001229825.1:p.Tyr852Ter, NP_001351249.1:p.Tyr852Ter, NP_001351247.1:p.Tyr852Ter, NP_001351248.1:p.Tyr774Ter, NP_001350781.1:p.Tyr852Ter, NP_001350783.1:p.Tyr774Ter, NP_001229826.1:p.Tyr774Ter, NP_001356830.1:p.Tyr824Ter, NP_001356832.1:p.Tyr843Ter, NP_001356831.1:p.Tyr824Ter, XP_011528859.1:p.Tyr843Ter, XP_011528864.1:p.Tyr852Ter, XP_011528863.1:p.Tyr765Ter, XP_011528865.1:p.Tyr774Ter, XP_011528871.1:p.Tyr150Ter, XP_011528867.1:p.Tyr852Ter, XP_024308073.1:p.Tyr141Ter, XP_047297584.1:p.Tyr843Ter, XP_047297582.1:p.Tyr765Ter, XP_047297581.1:p.Tyr765Ter, XP_047297585.1:p.Tyr774Ter, XP_047297583.1:p.Tyr765Ter, XP_047297586.1:p.Tyr765Ter, XP_047297588.1:p.Tyr521Ter, XP_047297587.1:p.Tyr852Ter, XP_047297589.1:p.Tyr774Ter, XP_047297590.1:p.Tyr852Ter, XP_047297591.1:p.Tyr852Ter, XP_047297592.1:p.Tyr843Ter

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